Gene Number:                 1
Celera Gene:                 hCG14819 - 207000006862219
Celera Transcript:           hCT2264290 - 207000006862221
Public Transcript Accession: NM_000104
Celera Protein:              hCP1815983 - 207000006862213
Public Protein Accession:    NP_000095
Gene Symbol:                 CYP1B1
Protein Name:                cytochrome P450, family 1, subfamily B, polypeptide 1;CP1B;GLC3A
Celera Genomic Axis:         GA_x5YUV32W5TR(48745307..48754486)
Chromosome:                  Chr2
OMIM number:                 601771
OMIM Information:            CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1;CYP1B1


Transcript Sequence (SEQ ID NO:1):
GACTCTGGAGTGGGAGTGGGAGCGAGCGCTTCTGCGACTCCAGTTGTGAGAGCCGCAAGGGCATGGGAATTGACGCCACTCACCGACCCCCAGTCTCAAT
CTCAACGCTGTGAGGAAACCTCGACTTTGCCAGGTCCCCAAGGGCAGCGGGGCTCGGCGAGCGAGGCACCCTTCTCCGTCCCCATCCCAATCCAAGCGYT
CCTGGCACTGACGACGCCAAGAGACTCGAGTGGGAGTTAAAGCTTCCAGTGAGGGCAGCAGGTGTCCAGGCCGGGCCTGCGGGTTCCTGTTGACGTCTTG
CCCTAGGCAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCAYGGGCACCAGCCTCAGCCCGAACGAC
CCTTGGCYGCTAAACCCGCTGTCCATCYAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAAC
GGAGGCGGCAGCTCSGGTCCGCGCCCCCGGGCCCGTTTGCGTRSCCACTGATCGRAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCG
CCYGGCGCGGCGCWACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAG
CAGGGCTCGGCCTTCGCCGACCGGCCGKCCTTCGCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCACTGGAAGG
TGCAGCGGCGCGCAGCCCACAGCATGATGCGCAACTTCTTCACGCGCCAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGA
GCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGMGCCTTCCTCGWCCYGAGGCCGCTGACCRTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGT
TTCGGCTGCCGCTACAKCCACGACGWCCCCGAGTTCCGTGAGCTGCTCAGCCACAACRAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACG
TSATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTT
CTTGAGGCACTGMKAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCAC
GGTGGTGGCGCGCGGCTGGATTTGGAGAACKTACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGC
TCCTCYTCTTCACCAGGTATCCTGATGTGCAGACTYGAGTGCAGGCAGAATTGGATCAGGTCRTGKGGAGGGACCRTCTGCCTTGTRTGGGTRACCAGCC
CAACCTGCYCTATGTCCTGGCCTTCCTTTATRAAGCCATGMRCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTC
TTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCASTGAAGTGGCCTAACCYGGAGAACTTTGATCSAG
STCRATTCTTGGACAAGGAHGGCCTCATCARCAAGGACCTGACCAGCAGAGTGATGATTTTTTCWGTGGGCAAAAGGYGGTGCATTGGCGAAGAACTTTC
TAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATGRGCCTGCGAAAATGAATTTCAGTTATGGTCTA
ACCATTAAACCCAAGTCATTTAAAGTCAATGTCACTCTCAGAGAGTCCATGGAGCTCCTTGATAGTGCTGTCCAAAATTTACAAGCCAAGGAAACTTGCC
AATAAGAAGCAAGAGGCAAGCTGAAATTTTAGAAATATTCACATCTTCGGAGATGAGGAGTAAAATTCAGTTTTTTTCCAGTTCCTCTTTTGTGCTGCTT
CTCAATTAGCGTTTAAGATGATTTTTTGAAAGTTAACATTAATGCCTGCTTTTTGGAAAGTCAGAATCAGAAGATAGTCTTGGAAGCTGTTTGGAAAAGA
CAGTGGAGATGAGGGCCTAGGTCATGACTCTCCAGGCCTTCACTGTGCCACACTCACAGATGACAGGGCTTGCGGTACCAAAGGCTCTTTATCTTCCAGA
CTACAGCTCCTATTAATG

Protein Sequence    (SEQ ID NO:698):
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGE
RAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVA
VANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSA
EKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPVKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEP
AKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ


SNP Information

Context             (SEQ ID NO:1395):
GGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATG
R
GCCTGCGAAAATGAATTTCAGTTATGGTCTAACCATTAAACCCAAGTCATTTAAAGTCAATGTCACTCTCAGAGAGTCCATGGAGCTCCTTGATAGTGCT
Celera SNP ID:            hCV27859809
SNP Position Transcript:  1869
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 499, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:1396):
CTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGT
R
GCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGC
Celera SNP ID:            hCV27540473
SNP Position Transcript:  543
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 57, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:1397):
GCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGT
R
TGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGC
Celera SNP ID:            hCV27000175
SNP Position Transcript:  1487
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 372, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:1398):
GCCTGCGGGTTCCTGTTGACGTCTTGCCCTAGGCAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCA
Y
GGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCAT
Celera SNP ID:            hCV27861787
SNP Position Transcript:  375
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 1, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:1399):
TCTTCACGCGCCAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGG
M
GCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCC
Celera SNP ID:            hCV25473489
SNP Position Transcript:  937
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,7)   caucasian(C,38)   total(A,3|C,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:698, 188, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:1400):
TGGCGCGCGGCTGGATTTGGAGAACGTACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTC
Y
TCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCT
Celera SNP ID:            hCV27861788
SNP Position Transcript:  1406
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 345, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:1401):
CTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACC
R
TCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCAT
Celera SNP ID:            hCV918707
SNP Position Transcript:  1476
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,33)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 368, (H,CAT)   (R,CGT)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 368, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:1402):
GCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAAC
R
AAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGA
Celera SNP ID:            hCV25632546
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,1|G,35)   total(A,1|G,45)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 229, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,38)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 229, (K,AAA)   (E,GAA)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 229, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1403):
AGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACG
W
CCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAGTACTTCCCC
Celera SNP ID:            hCV25632547
SNP Position Transcript:  1026
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 218, (D,GAC)   (V,GTC)   



Context             (SEQ ID NO:1404):
TCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGT
S
ATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCT
Celera SNP ID:            hCV25472256
SNP Position Transcript:  1102
SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,30)   caucasian(G,40)   total(C,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:698, 243, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:1405):
TCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCG
R
AAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATA
Celera SNP ID:            hCV27541281
SNP Position Transcript:  555
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 61, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:1406):
CAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTC
W
GTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAA
Celera SNP ID:            hCV25632548
SNP Position Transcript:  1765
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:698, 464, (S,TCA)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,38)   total(A,75|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:698, 464, (S,TCA)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:698, 464, (S,TCA)   (S,TCT)   



Context             (SEQ ID NO:1407):
TTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAG
S
TCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCT
Celera SNP ID:            hCV25632549
SNP Position Transcript:  1701
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 443, (A,GCT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,32)   total(C,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 443, (A,GCT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,38)   total(C,72|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 443, (A,GCT)   (G,GGT)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 443, (A,GCT)   (G,GGT)      



Context             (SEQ ID NO:1408):
GTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGT
R
ACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACAC
Celera SNP ID:            hCV27537005
SNP Position Transcript:  1493
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 374, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:1409):
GCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTGC
K
AAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCG
Celera SNP ID:            hCV27541282
SNP Position Transcript:  1214
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 281, (E,GAA)   (X,TAA)      



Context             (SEQ ID NO:1410):
CAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGC
R
CTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAAC
Celera SNP ID:            hCV27537006
SNP Position Transcript:  1542
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 390, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:1411):
GACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTAT
R
AAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGT
Celera SNP ID:            hCV27541283
SNP Position Transcript:  1532
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 387, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1412):
AGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGA
H
GGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCT
Celera SNP ID:            hCV3099975
SNP Position Transcript:  1720
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,23)   caucasian(C,25|T,13)   total(C,38|T,36)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 449, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,22)   caucasian(C,24|T,10)   total(C,38|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 449, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,24)   caucasian(C,24|T,14)   total(C,38|T,38)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 449, (D,GAC)   (D,GAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|T,8)      total(C,4|T,8) ;no_pop(T,-|C,-|A,-)   ;no_pop(T,-|C,-)   no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 449, (D,GAC)   (D,GAT)      449, (E,GAA)   (D,GAC)   (D,GAT)      449, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:1413):
ACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACC
Y
GGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGC
Celera SNP ID:            hCV27537007
SNP Position Transcript:  1683
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 437, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1414):
TATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCA
S
TGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGT
Celera SNP ID:            hCV3099976
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(C,12|G,24)   caucasian(C,23|G,11)   total(C,35|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 432, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,21)   caucasian(C,17|G,9)   total(C,28|G,30)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 432, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,25)   caucasian(C,24|G,12)   total(C,35|G,37)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 432, (L,CTG)   (V,GTG)   

SNP Source:               Celera;HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(C,144|G,164)   Chinese(C,2|G,56)   Japanese(C,2|G,18)   African(G,27|C,73)   no_pop(C,4|G,9)      total(G,9|C,4) ;Caucasian(G,114|C,213)      total(G,114|C,213);no_pop(G,-|C,-)   ;;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 432, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:1415):
TTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGC
Y
CTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTAC
Celera SNP ID:            hCV27531808
SNP Position Transcript:  1509
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 379, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:1416):
CGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCATGGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATC
Y
AGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCC
Celera SNP ID:            hCV27859205
SNP Position Transcript:  428
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 19, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:1417):
CCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACC
Y
GAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGC
Celera SNP ID:            hCV27859206
SNP Position Transcript:  951
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 193, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1418):
GTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACA
K
CCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAG
Celera SNP ID:            hCV27859207
SNP Position Transcript:  1017
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 215, (S,AGC)   (I,ATC)      



Context             (SEQ ID NO:1419):
GTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATC
S
AGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTT
Celera SNP ID:            hCV27859208
SNP Position Transcript:  1698
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 442, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:1420):
ATCTCAACGCTGTGAGGAAACCTCGACTTTGCCAGGTCCCCAAGGGCAGCGGGGCTCGGCGAGCGAGGCACCCTTCTCCGTCCCCATCCCAATCCAAGCG
Y
TCCTGGCACTGACGACGCCAAGAGACTCGAGTGGGAGTTAAAGCTTCCAGTGAGGGCAGCAGGTGTCCAGGCCGGGCCTGCGGGTTCCTGTTGACGTCTT
Celera SNP ID:            hCV27835232
SNP Position Transcript:  199
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,5)   caucasian(C,36)   total(C,59|T,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:698, None



Context             (SEQ ID NO:1421):
TGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTG
S
CCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCA
Celera SNP ID:            hCV27529370
SNP Position Transcript:  544
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 57, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:1422):
CCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTG
K
GGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCAC
Celera SNP ID:            hCV27529371
SNP Position Transcript:  1466
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 365, (G,GGG)   (W,TGG)      



Context             (SEQ ID NO:1423):
TAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGG
Y
GGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATGAGCCTGCGAA
Celera SNP ID:            hCV27529372
SNP Position Transcript:  1778
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 469, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:1424):
CAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCG
W
CCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTC
Celera SNP ID:            hCV27859802
SNP Position Transcript:  948
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 192, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:1425):
AGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACC
R
TCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTT
Celera SNP ID:            hCV27859803
SNP Position Transcript:  965
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 198, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:1426):
AGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCC
Y
GGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAG
Celera SNP ID:            hCV27530813
SNP Position Transcript:  603
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 77, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1427):
TGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTG
M
GAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGC
Celera SNP ID:            hCV27859804
SNP Position Transcript:  1213
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 280, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:1428):
GGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCGGCTGGATTTGGAGAAC
K
TACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCA
Celera SNP ID:            hCV27859805
SNP Position Transcript:  1331
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 320, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:1429):
CAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCATGGGCACCAGCCTCAGCCCGAACGACCCTTGGC
Y
GCTAAACCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGG
Celera SNP ID:            hCV25632538
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 12, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:1430):
GTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCA
R
CAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATC
Celera SNP ID:            hCV11642651
SNP Position Transcript:  1731
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,31|G,5)   total(A,65|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 453, (N,AAC)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,32|G,6)   total(A,66|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 453, (N,AAC)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,2)   caucasian(A,34|G,4)   total(A,64|G,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 453, (N,AAC)   (S,AGC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(G,59|A,268)      total(G,59|A,268) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 453, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:1431):
CCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGC
W
ACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAGGGCTCGGCCTT
Celera SNP ID:            hCV25632539
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,2|T,38)   total(A,2|T,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 81, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:1432):
CCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAGGGCTCGGCCTTCGCCGACCGGCCG
K
CCTTCGCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCACTGGAAGGTGCAGCGGCGCGCAGCCCACAGCATGAT
Celera SNP ID:            hCV11642652
SNP Position Transcript:  728
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,2)   caucasian(G,24|T,12)   total(G,30|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 119, (A,GCC)   (S,TCC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,14|T,16)   caucasian(G,23|T,15)   total(G,37|T,31)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 119, (A,GCC)   (S,TCC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   ;no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 119, (A,GCC)   (S,TCC)      119, (S,TCC)   (A,GCC)      



Context             (SEQ ID NO:1433):
GGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACT
Y
GAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGC
Celera SNP ID:            hCV27859806
SNP Position Transcript:  1436
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 355, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1434):
CAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTC
R
TGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGT
Celera SNP ID:            hCV27859807
SNP Position Transcript:  1463
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 364, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:1435):
CCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTC
S
GGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTA
Celera SNP ID:            hCV11642653
SNP Position Transcript:  515
SNP Source:               Applera
Population(Allele,Count): african american(C,14|G,24)   caucasian(C,24|G,16)   total(C,38|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 48, (R,CGG)   (G,GGG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 48, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:1436):
GCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATG
M
GCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAA
Celera SNP ID:            hCV27530815
SNP Position Transcript:  1541
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 390, (S,AGC)   (R,CGC)      



Context             (SEQ ID NO:1437):
GGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTC
R
ATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAG
Celera SNP ID:            hCV27859808
SNP Position Transcript:  1704
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:698, 444, (Q,CAA)   (R,CGA)      



Gene Number:                 1
Celera Gene:                 hCG14819 - 207000006862219
Celera Transcript:           hCT5840 - 207000006862222
Public Transcript Accession: NM_000104
Celera Protein:              hCP35331 - 207000006862216
Public Protein Accession:    NP_000095
Gene Symbol:                 CYP1B1
Protein Name:                cytochrome P450, family 1, subfamily B, polypeptide 1;CP1B;GLC3A
Celera Genomic Axis:         GA_x5YUV32W5TR(48745307..48753862)
Chromosome:                  Chr2
OMIM number:                 601771
OMIM Information:            CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1;CYP1B1


Transcript Sequence (SEQ ID NO:2):
GACTCTGGAGTGGGAGTGGGAGCGAGCGCTTCTGCGACTCCAGTTGTGAGAGCCGCAAGGGCATGGGAATTGACGCCACTCACCGACCCCCAGTCTCAAT
CTCAACGCTGTGAGGAAACCTCGACTTTGCCAGGTCCCCAAGGGCAGCGGGGCTCGGCGAGCGAGGCACCCTTCTCCGTCCCCATCCCAATCCAAGCGYT
CCTGGCACTGACGACGCCAAGAGACTCGAGTGGGAGTTAAAGCTTCCAGTGAGGGCAGCAGGTGTCCAGGCCGGGCCTGCGGGTTCCTGTTGACGTCTTG
CCCTAGGCAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCAYGGGCACCAGCCTCAGCCCGAACGAC
CCTTGGCYGCTAAACCCGCTGTCCATCYAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAAC
GGAGGCGGCAGCTCSGGTCCGCGCCCCCGGGCCCGTTTGCGTRSCCACTGATCGRAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCG
CCYGGCGCGGCGCWACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAG
CAGGGCTCGGCCTTCGCCGACCGGCCGKCCTTCGCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCACTGGAAGG
TGCAGCGGCGCGCAGCCCACAGCATGATGCGCAACTTCTTCACGCGCCAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGA
GCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGMGCCTTCCTCGWCCYGAGGCCGCTGACCRTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGT
TTCGGCTGCCGCTACAKCCACGACGWCCCCGAGTTCCGTGAGCTGCTCAGCCACAACRAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACG
TSATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTT
CTTGAGGCACTGMKAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCAC
GGTGGTGGCGCGCGGCTGGATTTGGAGAACKTACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGC
TCCTCYTCTTCACCAGGTATCCTGATGTGCAGACTYGAGTGCAGGCAGAATTGGATCAGGTCRTGKGGAGGGACCRTCTGCCTTGTRTGGGTRACCAGCC
CAACCTGCYCTATGTCCTGGCCTTCCTTTATRAAGCCATGMRCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTC
TTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCASTGAAGTGGCCTAACCYGGAGAACTTTGATCSAG
STCRATTCTTGGACAAGGAHGGCCTCATCARCAAGGACCTGACCAGCAGAGTGATGATTTTTTCWGTGGGCAAAAGGYGGTGCATTGGCGAAGAACTTTC
TAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATGRGCCTGCGAAAATGAATTTCAGTTATGGTCTA
ACCATTAAACCCAAGTCATTTAAAGTCAATGTCACTCTCAGAGAGTCCATGGAGCTCCTTGATAGTGCTGTCCAAAATTTACAAGCCAAGGAAACTTGCC
AATAAGAAGCAAGAGGCAAGCTGAAATTTTAGAAATATTCACATCTTCGGAGATGAGGAGTAAAATTCAGTTTTTTTCCAGTTCCTCTTTTGTGCTGCTT
CTCAATTAGCGTTTAAGGTGAGSATAAATCAACTGTCCATCAGGTGAGGTGTGCTCCATACCCAGCGGTTCTTCATGAGTAGTGGGCTATGCAGGAGCTT
CTGGGAGATTTTTTTGAGTCAAAGACTTAAAGGGCCCAATGAATTATTATATACATACTGCATCTTGGTTATTTCTGAAGGTAGCATTCTTTGGAGTTAA
AATGCACATATAGACACATACACCCAAACACTTACACCAAACWACTGAATGAAGMAGTATTTTGGTAACCAGGCCATTTTTGGTGGGAATCCAAGATTGG
TCTCCCATATGCAGAAATAGACAAAAAGTATATTAAACAAAGTTTCAGAGTATATTGTTGAAGAGACAGAGACAAGTAATTTCAGTGTAAAGTGTGTGAT
TGAAGGTGATAAGGGAAAAGATAAAGACCAGAAATTCCCTTTTCACCTTTTCAGGAAAATAACTTAGACTCTAGTATTTATGGGTGGATTTATCCTTTTG
CCTTCTGGTATACTTCCTTACTTTTAAGGATAAATCATAAAGTCAGTTGCTCAAAAAGAAATCAATAGTTGAATTAGTGAGTATAGTGGGGTTCCATGAK
TTATCATGAATTTTAAAGTATGCATTATTAAATTGTAAAACTCCAAGGTGATGTTGTACCTCTTTTGCTTGCCAAAGTACAGAATTTGAATTATCAGCAA
ARAAAAAAAAAAAAGCCAGCCAAGCTTTAAATTATGTGACCATAATGTACTGATTTCAGTAAGTCTCATAGGTTAAAAAAAAAAGTCACCAAATAGTGTG
AAATATATTACTTAACTGTCCGTAAGCAGTATATTAGTATTATCTTGTTCAGGAAAAGGTTGAATAATATATGCCTTGTNTAATATTGAAAATTGAAAAG
TACAACTAACGCAACCAAGTGTGCTAAAAATGAGCTTGATTAAATCAACCACCTATTTTTGACATGGAAATGAAGCAGGGTTTCTTTTCTTCACTCAAAT
TTTGGCGAATCTCAAAATTAGATCCTAAGATGTGTTCTTATTTTTATAACATCTTTATTGAAATTCTATTTATAATACAGAATCTTGTTTTGAAAATAAC
CTAATTAATATATTAAAATTCCAAATTCATGGCATGCTTAAATTTTAACTAAATTTTAAAGCCATTCTGATTATTGAGTTCCAGTTGAAGTTAGTGGAAA
TCTGAACATTCTCCTGTGGAAGGCAGAGAAATCTAAGCTGTGTCTGCCCAATGAATAATGGAAAATGCCATGAATTACCTGGATGTTCTTTTTACGAGGT
GACAAGAGTTGGGGACAGAACTCCCATTACAACTGACCAAGTTTCTCTTCTAGATGATTTTTTGAAAGTTAACATTAATGCCTGCTTTTTGGAAAGTCAG
AATCAGAAGATAGTCTTGGAAGCTGTTTGGAAAAGACAGTGGAGATGAGGTCAGTTGTGTTTTTTAAGATGGCAATTACTTTGGTAGCTGGGAAAGCATA
AAGCTCAAATGAAATGTATGCATTCACATTTAGAAAAGTGAATTGAAGTTTCAAGTTTTAAAGTTCATTGCAATTAAACTTCCAAAGAAAGTTCTACAGT
GTCCTAAGTGCTAAGTGCTTATTACATTTTATTAAGCTTTTTGGAATCTTTGTACCAAAATTTTAAAAAAGGGAGTTTTTGATAGTTGTGTGTATGTGTG
TGTGGGGTGGGGGGATGGTAAGAGAAAAGAGAGAAACACTGAAAAGAAGGAAAGATGGTTAAACATTTTCCCACTCATTCTGAATTAATTAATTTGGAGC
ACAAAATTCAAAGCATGGACATTTAGAAGAAAGATGTTTGGCGTAGCAGAGTTAAATCTCAAATAGGCTATTAAAAAAGTCTACAACATAGCAGATCTGT
TTTGTGGTTTGGAATATTAAAAAACTTCATGTAATTTTATTTTAAAATTTCATAGCTGTACTTCTTGAATATAAAAAATCATGCCAGTATTTTTAAAGGC
ATTAGAGTCAACTACACAAAGCAGGCTTGCCCAGTACATTTAAATTTTTTGGCACTTGCCATTCCAAAATATTATGCCCCACCAAGGCTGAGACAGTGAA
TTTGGGCTGCTGTAGCCTATTTTTTTAGATTGAGAAATGTGTAGCTGCAAAAATAATCATGAACCAATCTGGATGCCTCATTATGTCAACCAGGTCCAGA
TGTGCTATAATCTGTTTTTACGTATGTAGGCCCAGTCGTCATCAGATGCTTGCGGCAAAAGGAAAGCTGTGTTTATATGGAAGAAAGTAAGGTGCTTGGA
GTTTACCTGGCTTWTTTAATATGCTTATAACCTAGTTAAAGAAAGGAAAAGAAAACAAAAAACGAATGAAAATAACTGAATTTGGAGGCTGGAGTAATCA
GATTACTGCTTTAATCAGAAACCCTCATTGTGTTTCTACCGGAGAGAGAATGTATTTGCTGACAACCATTAAAGTCAGAAGTTTTACTCCAGGTTATTGC
AATAAAGTATAATGTTTATTAAATGCTTCATTTGTATGTCAAAGCTTTGACTCTATAAGCAAATTGCTTTTTTCCAAAACAAAAAGATGTCTCAGGTTTG
TTTTGTGAATTTTCTAAAAGCTTTCATGTCCCAGAACTTAGCCTTTACCTGTGAAGTGTTACTACAGCCTTAATATTTTCCTAGTAGATCTATATTAGAT
CAAATAGTTGCATAGCAGTATATGTTAATTTGTGTGTTTTTAGCTGTGACACAACTGTGTGATTAAAAGGTATACTTTAGTAGACATTTATAACTCAAGG
ATACCTTCTTATTTAATCTTTTCTTATTTTTGTACTTTATCATGAATGCTTTTAGTGTGTGCATAATAGCTACAGTGCATAGTTGTAGACAAAGTACATT
CTGGGGAAACAACATTTATATGTAGCCTTTACTGTTTGATATACCAAATTAAAAAAAAATTGTATCTCATTACTTATACTGGGACMCCATTACCAAAATA
ATAAAAATCACTTTCATAATCTTGTTATGA

Protein Sequence    (SEQ ID NO:699):
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGE
RAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVA
VANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSA
EKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPVKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEP
AKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ


SNP Information

Context             (SEQ ID NO:1438):
GGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATG
R
GCCTGCGAAAATGAATTTCAGTTATGGTCTAACCATTAAACCCAAGTCATTTAAAGTCAATGTCACTCTCAGAGAGTCCATGGAGCTCCTTGATAGTGCT
Celera SNP ID:            hCV27859809
SNP Position Transcript:  1869
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 499, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:1439):
CTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGT
R
GCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGC
Celera SNP ID:            hCV27540473
SNP Position Transcript:  543
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 57, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:1440):
GCCTTCTGGTATACTTCCTTACTTTTAAGGATAAATCATAAAGTCAGTTGCTCAAAAAGAAATCAATAGTTGAATTAGTGAGTATAGTGGGGTTCCATGA
K
TTATCATGAATTTTAAAGTATGCATTATTAAATTGTAAAACTCCAAGGTGATGTTGTACCTCTTTTGCTTGCCAAAGTACAGAATTTGAATTATCAGCAA
Celera SNP ID:            hCV8811031
SNP Position Transcript:  2700
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1441):
GCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGT
R
TGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGC
Celera SNP ID:            hCV27000175
SNP Position Transcript:  1487
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 372, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:1442):
TATCATGAATTTTAAAGTATGCATTATTAAATTGTAAAACTCCAAGGTGATGTTGTACCTCTTTTGCTTGCCAAAGTACAGAATTTGAATTATCAGCAAA
R
AAAAAAAAAAAAGCCAGCCAAGCTTTAAATTATGTGACCATAATGTACTGATTTCAGTAAGTCTCATAGGTTAAAAAAAAAAGTCACCAAATAGTGTGAA
Celera SNP ID:            hCV8811032
SNP Position Transcript:  2802
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1443):
AAAAAGTCACCAAATAGTGTGAAATATATTACTTAACTGTCCGTAAGCAGTATATTAGTATTATCTTGTTCAGGAAAAGGTTGAATAATATATGCCTTGT
N
TAATATTGAAAATTGAAAAGTACAACTAACGCAACCAAGTGTGCTAAAAATGAGCTTGATTAAATCAACCACCTATTTTTGACATGGAAATGAAGCAGGG
Celera SNP ID:            hCV8811033
SNP Position Transcript:  2980
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   ;JBIC-allele(A,230|G,1255)   total(G,1255|A,230)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1444):
GCGTTTAAGGTGAGCATAAATCAACTGTCCATCAGGTGAGGTGTGCTCCATACCCAGCGGTTCTTCATGAGTAGTGGGCTATGCAGGAGCTTCTGGGAGA
T
TTTTTTGAGTCAAAGACTTAAAGGGCCCAATGAATTATTATATACATACTGCATCTTGGTTATTTCTGAAGGTAGCATTCTTTGGAGTTAAAATGCACAT
Celera SNP ID:            hCV27000176
SNP Position Transcript:  2209
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|-,13)   total(-,13|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1445):
GCCTGCGGGTTCCTGTTGACGTCTTGCCCTAGGCAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCA
Y
GGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCAT
Celera SNP ID:            hCV27861787
SNP Position Transcript:  375
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 1, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:1446):
TCTTCACGCGCCAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGG
M
GCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCC
Celera SNP ID:            hCV25473489
SNP Position Transcript:  937
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,7)   caucasian(C,38)   total(A,3|C,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:699, 188, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:1447):
TGGCGCGCGGCTGGATTTGGAGAACGTACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTC
Y
TCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCT
Celera SNP ID:            hCV27861788
SNP Position Transcript:  1406
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 345, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:1448):
CTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACC
R
TCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCAT
Celera SNP ID:            hCV918707
SNP Position Transcript:  1476
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,33)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 368, (H,CAT)   (R,CGT)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 368, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:1449):
GCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAAC
R
AAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGA
Celera SNP ID:            hCV25632546
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,1|G,35)   total(A,1|G,45)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 229, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,38)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 229, (K,AAA)   (E,GAA)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 229, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1450):
AGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACG
W
CCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAGTACTTCCCC
Celera SNP ID:            hCV25632547
SNP Position Transcript:  1026
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 218, (D,GAC)   (V,GTC)   



Context             (SEQ ID NO:1451):
TCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGT
S
ATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCT
Celera SNP ID:            hCV25472256
SNP Position Transcript:  1102
SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,30)   caucasian(G,40)   total(C,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:699, 243, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:1452):
TCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCG
R
AAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATA
Celera SNP ID:            hCV27541281
SNP Position Transcript:  555
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 61, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:1453):
CAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTC
W
GTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAA
Celera SNP ID:            hCV25632548
SNP Position Transcript:  1765
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:699, 464, (S,TCA)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,38)   total(A,75|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:699, 464, (S,TCA)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,38)   total(A,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:699, 464, (S,TCA)   (S,TCT)   



Context             (SEQ ID NO:1454):
GTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGT
R
ACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACAC
Celera SNP ID:            hCV27537005
SNP Position Transcript:  1493
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 374, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:1455):
TTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAG
S
TCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCT
Celera SNP ID:            hCV25632549
SNP Position Transcript:  1701
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 443, (A,GCT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,32)   total(C,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 443, (A,GCT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,38)   total(C,72|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 443, (A,GCT)   (G,GGT)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 443, (A,GCT)   (G,GGT)      



Context             (SEQ ID NO:1456):
GCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTGC
K
AAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCG
Celera SNP ID:            hCV27541282
SNP Position Transcript:  1214
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 281, (E,GAA)   (X,TAA)      



Context             (SEQ ID NO:1457):
CAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGC
R
CTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAAC
Celera SNP ID:            hCV27537006
SNP Position Transcript:  1542
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 390, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:1458):
GTTTTTACGTATGTAGGCCCAGTCGTCATCAGATGCTTGCGGCAAAAGGAAAGCTGTGTTTATATGGAAGAAAGTAAGGTGCTTGGAGTTTACCTGGCTT
W
TTTAATATGCTTATAACCTAGTTAAAGAAAGGAAAAGAAAACAAAAAACGAATGAAAATAACTGAATTTGGAGGCTGGAGTAATCAGATTACTGCTTTAA
Celera SNP ID:            hCV3099974
SNP Position Transcript:  4414
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,9|A,10)      total(A,10|T,9) ;no_pop(T,-|A,-)   ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1459):
GACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTAT
R
AAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGT
Celera SNP ID:            hCV27541283
SNP Position Transcript:  1532
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 387, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1460):
AGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGA
H
GGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCT
Celera SNP ID:            hCV3099975
SNP Position Transcript:  1720
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,23)   caucasian(C,25|T,13)   total(C,38|T,36)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 449, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,22)   caucasian(C,24|T,10)   total(C,38|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 449, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,24)   caucasian(C,24|T,14)   total(C,38|T,38)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 449, (D,GAC)   (D,GAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|T,8)      total(C,4|T,8) ;no_pop(T,-|C,-|A,-)   ;no_pop(T,-|C,-)   no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 449, (D,GAC)   (D,GAT)      449, (E,GAA)   (D,GAC)   (D,GAT)      449, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:1461):
ACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACC
Y
GGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGC
Celera SNP ID:            hCV27537007
SNP Position Transcript:  1683
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 437, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1462):
TATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCA
S
TGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGT
Celera SNP ID:            hCV3099976
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(C,12|G,24)   caucasian(C,23|G,11)   total(C,35|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 432, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,21)   caucasian(C,17|G,9)   total(C,28|G,30)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 432, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,25)   caucasian(C,24|G,12)   total(C,35|G,37)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 432, (L,CTG)   (V,GTG)   

SNP Source:               Celera;HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(C,144|G,164)   Chinese(C,2|G,56)   Japanese(C,2|G,18)   African(G,27|C,73)   no_pop(C,4|G,9)      total(G,9|C,4) ;Caucasian(G,114|C,213)      total(G,114|C,213);no_pop(G,-|C,-)   ;;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 432, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:1463):
TTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGC
Y
CTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTAC
Celera SNP ID:            hCV27531808
SNP Position Transcript:  1509
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 379, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:1464):
GAAATTTTAGAAATATTCACATCTTCGGAGATGAGGAGTAAAATTCAGTTTTTTTCCAGTTCCTCTTTTGTGCTGCTTCTCAATTAGCGTTTAAGGTGAG
S
ATAAATCAACTGTCCATCAGGTGAGGTGTGCTCCATACCCAGCGGTTCTTCATGAGTAGTGGGCTATGCAGGAGCTTCTGGGAGATTTTTTTGAGTCAAA
Celera SNP ID:            hCV8811021
SNP Position Transcript:  2123
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1465):
TAGACAAAGTACATTCTGGGGAAACAACATTTATATGTAGCCTTTACTGTTTGATATACCAAATTAAAAAAAAATTGTATCTCATTACTTATACTGGGAC
M
CCATTACCAAAATAATAAAAATCACTTTCATAATCTTGTTATGA
Celera SNP ID:            hCV8811041
SNP Position Transcript:  5086
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1466):
CGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCATGGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATC
Y
AGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCC
Celera SNP ID:            hCV27859205
SNP Position Transcript:  428
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 19, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:1467):
CCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACC
Y
GAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGC
Celera SNP ID:            hCV27859206
SNP Position Transcript:  951
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 193, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1468):
GTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACA
K
CCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCCTGGCTGCAG
Celera SNP ID:            hCV27859207
SNP Position Transcript:  1017
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 215, (S,AGC)   (I,ATC)      



Context             (SEQ ID NO:1469):
GTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATC
S
AGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTT
Celera SNP ID:            hCV27859208
SNP Position Transcript:  1698
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 442, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:1470):
ATCTCAACGCTGTGAGGAAACCTCGACTTTGCCAGGTCCCCAAGGGCAGCGGGGCTCGGCGAGCGAGGCACCCTTCTCCGTCCCCATCCCAATCCAAGCG
Y
TCCTGGCACTGACGACGCCAAGAGACTCGAGTGGGAGTTAAAGCTTCCAGTGAGGGCAGCAGGTGTCCAGGCCGGGCCTGCGGGTTCCTGTTGACGTCTT
Celera SNP ID:            hCV27835232
SNP Position Transcript:  199
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,5)   caucasian(C,36)   total(C,59|T,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:699, None



Context             (SEQ ID NO:1471):
TGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTG
S
CCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCA
Celera SNP ID:            hCV27529370
SNP Position Transcript:  544
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 57, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:1472):
CCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTG
K
GGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCAC
Celera SNP ID:            hCV27529371
SNP Position Transcript:  1466
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 365, (G,GGG)   (W,TGG)      



Context             (SEQ ID NO:1473):
TAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGG
Y
GGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATGAGCCTGCGAA
Celera SNP ID:            hCV27529372
SNP Position Transcript:  1778
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 469, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:1474):
CAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCG
W
CCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTC
Celera SNP ID:            hCV27859802
SNP Position Transcript:  948
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 192, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:1475):
AGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACC
R
TCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTT
Celera SNP ID:            hCV27859803
SNP Position Transcript:  965
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 198, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:1476):
AGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCC
Y
GGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAG
Celera SNP ID:            hCV27530813
SNP Position Transcript:  603
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 77, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:1477):
TGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTG
M
GAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGC
Celera SNP ID:            hCV27859804
SNP Position Transcript:  1213
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 280, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:1478):
ATTATTATATACATACTGCATCTTGGTTATTTCTGAAGGTAGCATTCTTTGGAGTTAAAATGCACATATAGACACATACACCCAAACACTTACACCAAAC
W
ACTGAATGAAGAAGTATTTTGGTAACCAGGCCATTTTTGGTGGGAATCCAAGATTGGTCTCCCATATGCAGAAATAGACAAAAAGTATATTAAACAAAGT
Celera SNP ID:            hCV11642650
SNP Position Transcript:  2343
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Context             (SEQ ID NO:1479):
GGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCGGCTGGATTTGGAGAAC
K
TACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCA
Celera SNP ID:            hCV27859805
SNP Position Transcript:  1331
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 320, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:1480):
CAAAGGTCCCAGTTCCTTCTCGGAGCCGGCTGTCCCGCGCCACTGGAAACCGCACCTCCCCGCAGCATGGGCACCAGCCTCAGCCCGAACGACCCTTGGC
Y
GCTAAACCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGG
Celera SNP ID:            hCV25632538
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 12, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:1481):
GTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCA
R
CAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTTTTTCTCTTCATCTCCATC
Celera SNP ID:            hCV11642651
SNP Position Transcript:  1731
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,31|G,5)   total(A,65|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 453, (N,AAC)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,32|G,6)   total(A,66|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 453, (N,AAC)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,2)   caucasian(A,34|G,4)   total(A,64|G,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 453, (N,AAC)   (S,AGC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(G,59|A,268)      total(G,59|A,268) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 453, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:1482):
CCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGC
W
ACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAGGGCTCGGCCTT
Celera SNP ID:            hCV25632539
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,2|T,38)   total(A,2|T,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 81, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:1483):
CCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAGGCCCTGGTGCAGCAGGGCTCGGCCTTCGCCGACCGGCCG
K
CCTTCGCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCACTGGAAGGTGCAGCGGCGCGCAGCCCACAGCATGAT
Celera SNP ID:            hCV11642652
SNP Position Transcript:  728
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,2)   caucasian(G,24|T,12)   total(G,30|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 119, (A,GCC)   (S,TCC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,14|T,16)   caucasian(G,23|T,15)   total(G,37|T,31)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 119, (A,GCC)   (S,TCC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   ;no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 119, (A,GCC)   (S,TCC)      119, (S,TCC)   (A,GCC)      



Context             (SEQ ID NO:1484):
GGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACT
Y
GAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGC
Celera SNP ID:            hCV27859806
SNP Position Transcript:  1436
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 355, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1485):
CAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTC
R
TGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGT
Celera SNP ID:            hCV27859807
SNP Position Transcript:  1463
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 364, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:1486):
CCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTC
S
GGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGCTA
Celera SNP ID:            hCV11642653
SNP Position Transcript:  515
SNP Source:               Applera
Population(Allele,Count): african american(C,14|G,24)   caucasian(C,24|G,16)   total(C,38|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 48, (R,CGG)   (G,GGG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 48, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:1487):
GCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATG
M
GCTTCTCCAGCTTTGTGCCTGTCACTATTCCTCATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAA
Celera SNP ID:            hCV27530815
SNP Position Transcript:  1541
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 390, (S,AGC)   (R,CGC)      



Context             (SEQ ID NO:1488):
GGCTACCACATTCCCAAGGACACTGTGGTTTTTGTCAACCAGTGGTCTGTGAATCATGACCCAGTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTC
R
ATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAG
Celera SNP ID:            hCV27859808
SNP Position Transcript:  1704
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:699, 444, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:1489):
ATACTGCATCTTGGTTATTTCTGAAGGTAGCATTCTTTGGAGTTAAAATGCACATATAGACACATACACCCAAACACTTACACCAAACTACTGAATGAAG
M
AGTATTTTGGTAACCAGGCCATTTTTGGTGGGAATCCAAGATTGGTCTCCCATATGCAGAAATAGACAAAAAGTATATTAAACAAAGTTTCAGAGTATAT
Celera SNP ID:            hCV918686
SNP Position Transcript:  2355
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   no_pop(A,-|C,-)   JBIC-allele(C,219|A,1268)   total(A,1268|C,219)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:699, None   



Gene Number:                 2
Celera Gene:                 hCG14894 - 206000044122650
Celera Transcript:           hCT2291708 - 206000044122651
Public Transcript Accession: NM_003742
Celera Protein:              hCP1793422 - 206000044122592
Public Protein Accession:    NP_003733
Gene Symbol:                 ABCB11
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 11;ABC16;BSEP;PFIC-2;PFIC2;PGY4;SPGP
Celera Genomic Axis:         GA_x5YUV32W8UP(25403016..25511410)
Chromosome:                  Chr2
OMIM number:                 603201
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11;ABCB11


Transcript Sequence (SEQ ID NO:3):
GAATGATGAAAACCGAGGTTGGAAAAGGTTGTGAAACCTTTTAACTCTCCACAGTGGAGTCCATTATTTCCTCTGGCTTCCTCAAATTCATATTCACAGG
GTCGTTGGCTGTGGGTTGCAATTACCATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTTGAGTCAGATAAATC
ATATAATAATGATAAGAAATCAAGGTTACAAGAYGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATYAACTGAY
ATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTYATTG
ACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAA
TGGAACACGTTGTGGGTTGCTGAACATYGAGAGCGAAATGATCAAATTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATT
CAAATATGCTTTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGAAAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACT
GCAATTCAGTSGGGGAGCTGAATACAAGATTCTCTGATGATRTTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGAC
CTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGKTTGGAAACTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACC
ATTGGTCTGAGTGTGTCCAAGTTTACGGACTAYGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGG
CTGCTTTTGGTGGTGRGAAAARAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGRATAGTGATGGGATTCTT
TACTGGATTCGTGTGGTGTCTCATCTTTTTGWGTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAGAATATACACCAGGAACC
CTTGTCCAGATTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTGGAAGCCTTTGCAACTGGACGTGCAGCAGCCACCA
GCATTTTTGARACAATAGACAGGAAACCCATCATTGACTGCATGTCAGAAGATGGTTACAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGT
GACCTTCCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGGYCATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGA
GCTGGARAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATGGTGACCGTGGRTGGCCATGACATTCGCTCTCTTAACATTC
AGTGGCTTAGAGATCAGATTGGGATAGTGGAGCAAGAGCCAGTTCTGTTCTCTACCACCATTGCAGAAAATATTCGCTATGGCAGAGAAGATGCAACAAT
GGAAGACATAGTCCAAGCTGCCAAGGAGGCCAATGCCTACAACTTCATCATGGACCTGCCACAGCAATTTGACACCCTTGTTGGAGAAGGAGGAGGCCAG
ATGAGTGGTGGCCAGAAACAAAGGGTAGCTATCGCCAGAGCCCTCATCYGAAATCCCAAGATTCTGCTTTTGGACATGGCCACCTCAGCTCTGGACAATG
AGAGTGAAGCCATGGTGCAAGAAGTGCTGAGTAAGATTCAGCATGGGCACACAATCATTTCAGTTGCTCATCGCTTGTCTACGGTCAGAGCTGCAGATAC
CATCATTGGTTTTGAACATGGCACTGCAGTGGAAAGAGGGACCCATGAAGAATTACTGGAAAGGAAAGGTGTTTACTTCACTCTAGTGACTTTGCAAAGC
CAGGGAAATCAAGCTCTTAATGAAGAGGACATAAAGGATGCAACTGAAGATGACRTGCTTGCGAGGACCTTTAGCAGAGGGAGCTACCAGGATAGTTTAA
GGGCTTCCATCCGGCAACGCTCCAAGTCTCAGCTTTCTTACCTGGTGCACGAACCTCCATTAGCTGTTGTAGATCATAAGTCTACCTATGAAGAAGATAG
AAAGGACAAGGACATTCCTGTGCAGGAAGAAGTTGAACCTGCCCCAGTTAGGAGGATTCTGAAATTCAGTGCTCCAGAATGGCCCTACATGCTGGTAGGG
TCTGTGGGTGCAGCTGTGAACGGGACAGTCACACCCTTGTATGCCTTTTTATTCAGCCAGATTCTTGGGACTTTTTCAATTCCTGATAAAGAGGAACAAA
GGTCACAGATCAATGGTGTGTGCCTACTTTTTGTAGCAATGGGCTGTGTATCTCTTTTCACCCAATTTCTACAGGGATATGCCTTTGCTAAATCTGGGGA
GCTCCTAACAAAAAGGCTACGTAAATTTGGTTTCAGGGCAATGCTGGGGCAAGATATTGCCTGGTTTGATGACCTCAGAAATAGCCCTGGAGCATTGACA
ACAAGACTTGCTACAGATGCTTCCCAAGTTCAAGGGGCTGCCGGCTCTCAGATCGGGATGATAGTCAATTCCTTCACTAACGTCACTGTGGCCATGATCA
TTGCCTTCTCCTTTAGCTGGAAGCTGAGCCTGGTCATCTTGTGCTTCTTCCCCTTCTTGGCTTTATCAGGAGCCACACAGACCAGGATGTTGACAGGATT
TGCCTCTCGAGATAAGCAGGCCCTGGAGATGGTGGGACAGATTACAAATGAAGCCCTCAGTAACATCCGCACTGTTGCTGGAATTGGAAAGGAGAGGCGG
TTCATTGAAGCACTTGAGACTGAGCTGGAGAAGCCCTTCAAGACAGCCATTCAGAAAGCCAATATTTACRGATTCTGCTTTGCCTTTGCCCAGTGCATCA
TGTTTATTGCGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAGCTATGTGTTCAGGGTGATCTCTGCAGTTGT
ACTGAGTGCRACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACYGACAA
CCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGATTGATTTTGTTGATTGTAAATTTACATATCCTTCTYGACCTG
ACTCGCAAGTTCTGAATGGTCTCTCAGTGTCGATTAGTCCAGGGCAGACACTGGCGTTTGTTGGGAGCAGTGGATGTGGCAAAAGCACTAGCATTCAGCT
GTTGGAACGTTTCTATGATCCTGATCAAGGGAAGGTGATGATAGATGGTCATGACAGCAAAAAAGTAAATGTCCAGTTCCTCYGCTCAAACATTGGAATT
GTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACCAAAGAAATTCCCATGRAAAGAGTCATAGCAGCTG
CAAAACAGGCTCAGCTGCATGATTTTGTCATGTCACTCCCAGAGAAATATGAAACTAACGTTGGGTCCCAGGGGTCTCAACTCTCTAGAGGGGAGAAACA
ACGCATTGCTATTGCTCGGGCCATTGTACGAGATCCTAAAATCTTGCTACTAGATGAAGCCACTTCTGCCTTAGACACAGAAAGTGAAAAGACGGTGCAG
GTTGCTCTAGACAAAGCCAGAGAGGGTCGGACCTGCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGATATCATTGCTGTCATGGCACAGG
GGGTGGTGATTGAAAAGGGGACCCATGAAGAACTGATGGCCCAAAAAGGAGCCTACTACAAACTAGTCACCACTGGATCCCCCATCAGTTGACCCAATGC
AAGAATCTCAGACACACATGACGCACCAGTTACAGGGGTTGTTTTTAAAGAAAAAAACAATCCCAGCAGGAGGGATTGCTGGGATTGTTTTTTCTTTAAA
GAAGAATGTTAATATTTTACTTTTACAGTCATTTTCCTACATCGGAATCCAAGCTAATTTCTAATGGCCTTCCATAATAATTCTGCTTTAGATGTGTATA
CAGAAAATGAAAGAAACTAGGGTCCATRTGAGGGAAAACCCAATGTCAAGTGGCAGCTCAGCCACCACTCAGKGCTTCTCTGTGCAGGAGCCAGTCCTGA
TTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGGRCAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACA
GAGGCGGGTCTRTAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGATTTGAAAAGAACAGAAGGACTGAAGACCAGCTGTGTTTCTTAA
CTAAATTTGTCTTTCAAGTGAAACCAGCTTCCTTCATCTCTAAGGCTAAGGATAGGGAAAGGGTGGATGCTCTCAGGCTGAGGGAGGCAGAAAGGGAAAG
TATTAGCATGAGCTTTCCAGTTAGGGCTGTTGATTTATGCTTTAACTTCAGAGTGAGTGTAGGGGTGGTGATGCTA

Protein Sequence    (SEQ ID NO:700):
MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQEL
QIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNT
RFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKRE
VERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRK
PIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGI
VEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEV
LSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSK
SQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCL
LFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKL
SLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASY
RYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLS
VSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDF
VMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTH
EELMAQKGAYYKLVTTGSPIS


SNP Information

Context             (SEQ ID NO:1490):
GAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGGACAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACAGAGGCGGGTCT
R
TAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGATTTGAAAAGAACAGAAGGACTGAAGACCAGCTGTGTTTCTTAACTAAATTTGTCT
Celera SNP ID:            hCV8813542
SNP Position Transcript:  4512
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,8)      total(G,8|A,5)Gaucasian(A,25|G,35)   Ghinese(A,8|G,12)   Japanese(A,15|G,23)   African(G,15|A,45)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   Caucasian(A,25|G,35)   African American (pooled) - WICGR(G,32|A,68)   African-American(G,15|A,45)   no_pop(G,-|A,-)   Asians(A,23|G,35)   Asian (pooled) - WICGR(A,39|G,45)   Caucasian (pooled) - WICGR(A,36|G,60)   total(G,222|A,236)   no_pop(A,-|G,-)   JBIG-allele(A,643|G,842)   total(G,842|A,643)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:700, None   



Context             (SEQ ID NO:1491):
GATAAATCATATAATAATGATAAGAAATCAAGGTTACAAGATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCAT
Y
AACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTT
Celera SNP ID:            hCV25634284
SNP Position Transcript:  293
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 56, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:1492):
AGCCACCACTCAGTGCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGG
R
CAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACAGAGGCGGGTCTGTAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGATTT
Celera SNP ID:            hCV8813543
SNP Position Transcript:  4460
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:700, None   



Context             (SEQ ID NO:1493):
CATATAATAATGATAAGAAATCAAGGTTACAAGATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGA
Y
ATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTTATTG
Celera SNP ID:            hCV25634285
SNP Position Transcript:  300
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 58, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:1494):
CCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGGTCATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGA
R
AAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATGGTGACCGTGGATGGCCATGACATTCGCTCTCTTAACATTCAGTGGCT
Celera SNP ID:            hCV1010678
SNP Position Transcript:  1507
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 461, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1495):
GTCATTTTCCTACATCGGAATCCAAGCTAATTTCTAATGGCCTTCCATAATAATTCTGCTTTAGATGTGTATACAGAAAATGAAAGAAACTAGGGTCCAT
R
TGAGGGAAAACCCAATGTCAAGTGGCAGCTCAGCCACCACTCAGTGCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCA
Celera SNP ID:            hCV8813544
SNP Position Transcript:  4328
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,71|G,1380)   total(G,1380|A,71)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:700, None   



Context             (SEQ ID NO:1496):
CTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTT
Y
ATTGACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGA
Celera SNP ID:            hCV25634286
SNP Position Transcript:  396
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,38)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 90, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:1497):
GAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGAAAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATGGTGACCGTGG
R
TGGCCATGACATTCGCTCTCTTAACATTCAGTGGCTTAGAGATCAGATTGGGATAGTGGAGCAAGAGCCAGTTCTGTTCTCTACCACCATTGCAGAAAAT
Celera SNP ID:            hCV27860860
SNP Position Transcript:  1571
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 482, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:1498):
CATAATAATTCTGCTTTAGATGTGTATACAGAAAATGAAAGAAACTAGGGTCCATGTGAGGGAAAACCCAATGTCAAGTGGCAGCTCAGCCACCACTCAG
K
GCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGGACAGAGAACTGTCT
Celera SNP ID:            hCV27509145
SNP Position Transcript:  4373
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:700, None   



Context             (SEQ ID NO:1499):
CCGCTCAAACATTGGAATTGTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACCAAAGAAATTCCCATG
R
AAAGAGTCATAGCAGCTGCAAAACAGGCTCAGCTGCATGATTTTGTCATGTCACTCCCAGAGAAATATGAAACTAACGTTGGGTCCCAGGGGTCTCAACT
Celera SNP ID:            hCV8813563
SNP Position Transcript:  3682
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;no_pop(G,-|A,-)   ;African American (pooled) - WICGR(A,3|G,97)   no_pop(G,-|A,-)   Asian (pooled) - WICGR(G,84)   Caucasian (pooled) - WICGR(A,1|G,95)   total(G,276|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 1186, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1500):
AGTTGTACTGAGTGCGACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGAC
Y
GACAACCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGATTGATTTTGTTGATTGTAAATTTACATATCCTTCTCG
Celera SNP ID:            hCV894448
SNP Position Transcript:  3295
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 1057, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1501):
CGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAGCTATGTGTTCAGGGTGATCTCTGCAGTTGTACTGAGTGC
R
ACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACCGACAACCCCCAATCA
Celera SNP ID:            hCV8813572
SNP Position Transcript:  3210
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 1028, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:1502):
CACTGTTGCTGGAATTGGAAAGGAGAGGCGGTTCATTGAAGCACTTGAGACTGAGCTGGAGAAGCCCTTCAAGACAGCCATTCAGAAAGCCAATATTTAC
R
GATTCTGCTTTGCCTTTGCCCAGTGCATCATGTTTATTGCGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAG
Celera SNP ID:            hCV560420
SNP Position Transcript:  3070
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 982, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:1503):
TCCAAGTTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTG
R
GAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGG
Celera SNP ID:            hCV27860859
SNP Position Transcript:  1016
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 297, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:1504):
ACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTTGAGTCAGATAAATCATATAATAATGATAAGAAATCAAGGTTACAAGA
Y
GAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCAT
Celera SNP ID:            hCV27505203
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,366|T,1109)   total(C,366|T,1109) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 36, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1505):
AGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAATGGAACACGTTGTGGGTTGCTGAACAT
Y
GAGAGCGAAATGATCAAATTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAAATATGCTTTTGGGTCATTGCCGCAG
Celera SNP ID:            hCV25634302
SNP Position Transcript:  528
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,3)   caucasian(C,40)   total(C,59|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 134, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:1506):
TTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGAAAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGT
S
GGGGAGCTGAATACAAGATTCTCTGATGATATTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCT
Celera SNP ID:            hCV25634303
SNP Position Transcript:  711
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 195, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:1507):
TACAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGTGACCTTCCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGG
Y
CATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGAAAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGA
Celera SNP ID:            hCV25473960
SNP Position Transcript:  1457
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,16)   caucasian(C,17|T,15)   total(C,33|T,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 444, (A,GCC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 444, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:1508):
TCAGGGGTTGGAAACTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTA
Y
GAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAA
Celera SNP ID:            hCV16182454
SNP Position Transcript:  933
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 269, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1509):
GAAAATGAGAAAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTGGGGGAGCTGAATACAAGATTCTCTGATGAT
R
TTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGGTTG
Celera SNP ID:            hCV25634304
SNP Position Transcript:  742
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,40)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 206, (I,ATT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,40)   total(A,76|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 206, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:1510):
TTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAA
R
AGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTC
Celera SNP ID:            hCV16182455
SNP Position Transcript:  1022
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 299, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:1511):
GATATTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGG
K
TTGGAAACTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTATGAGCTG
Celera SNP ID:            hCV27859362
SNP Position Transcript:  839
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 238, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:1512):
AAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTG
W
GTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAGAATATACACCAGGAACCCTTGTCCAGATTTTCCTCAGTGTCATAGTAGG
Celera SNP ID:            hCV27859363
SNP Position Transcript:  1132
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 336, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:1513):
CCGACAACCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGATTGATTTTGTTGATTGTAAATTTACATATCCTTCT
Y
GACCTGACTCGCAAGTTCTGAATGGTCTCTCAGTGTCGATTAGTCCAGGGCAGACACTGGCGTTTGTTGGGAGCAGTGGATGTGGCAAAAGCACTAGCAT
Celera SNP ID:            hCV27859364
SNP Position Transcript:  3394
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 1090, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1514):
TTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTGGAAGCCTTTGCAACTGGACGTGCAGCAGCCACCAGCATTTTTGA
R
ACAATAGACAGGAAACCCATCATTGACTGCATGTCAGAAGATGGTTACAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGTGACCTTCCATT
Celera SNP ID:            hCV25634254
SNP Position Transcript:  1311
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 395, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:1515):
AAGCACTAGCATTCAGCTGTTGGAACGTTTCTATGATCCTGATCAAGGGAAGGTGATGATAGATGGTCATGACAGCAAAAAAGTAAATGTCCAGTTCCTC
Y
GCTCAAACATTGGAATTGTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACCAAAGAAATTCCCATGGA
Celera SNP ID:            hCV5842
SNP Position Transcript:  3583
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 1153, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:1516):
CATGGACCTGCCACAGCAATTTGACACCCTTGTTGGAGAAGGAGGAGGCCAGATGAGTGGTGGCCAGAAACAAAGGGTAGCTATCGCCAGAGCCCTCATC
Y
GAAATCCCAAGATTCTGCTTTTGGACATGGCCACCTCAGCTCTGGACAATGAGAGTGAAGCCATGGTGCAAGAAGTGCTGAGTAAGATTCAGCATGGGCA
Celera SNP ID:            hCV1010680
SNP Position Transcript:  1849
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 575, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1517):
CATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGG
R
ATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGTGTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAG
Celera SNP ID:            hCV25473309
SNP Position Transcript:  1083
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,12)   caucasian(A,37|G,1)   total(A,55|G,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 319, (G,GGA)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:700, 319, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:1518):
ACTGGAAAGGAAAGGTGTTTACTTCACTCTAGTGACTTTGCAAAGCCAGGGAAATCAAGCTCTTAATGAAGAGGACATAAAGGATGCAACTGAAGATGAC
R
TGCTTGCGAGGACCTTTAGCAGAGGGAGCTACCAGGATAGTTTAAGGGCTTCCATCCGGCAACGCTCCAAGTCTCAGCTTTCTTACCTGGTGCACGAACC
Celera SNP ID:            hCV25634265
SNP Position Transcript:  2155
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,39|G,1)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:700, 677, (M,ATG)   (V,GTG)   



Gene Number:                 2
Celera Gene:                 hCG14894 - 206000044122650
Celera Transcript:           hCT5915 - 206000044122638
Public Transcript Accession: NM_003742
Celera Protein:              hCP35175 - 206000044122596
Public Protein Accession:    NP_003733
Gene Symbol:                 ABCB11
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 11;ABC16;BSEP;PFIC-2;PFIC2;PGY4;SPGP
Celera Genomic Axis:         GA_x5YUV32W8UP(25403016..25511410)
Chromosome:                  Chr2
OMIM number:                 603201
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11;ABCB11


Transcript Sequence (SEQ ID NO:4):
GAATGATGAAAACCGAGGTTGGAAAAGGTTGTGAAACCTTTTAACTCTCCACAGTGGAGTCCATTATTTCCTCTGGCTTCCTCAAATTCATATTCACAGG
GTCGTTGGCTGTGGGTTGCAATTACCATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTTGAGTCAGATAAATC
ATGTGAGTGGCTTTTTTCCCTCACTGCATCTTGTACAAGGAGAGATAATAATGATAAGAAATCAAGGTTACAAGAYGAGAAGAAAGGTGATGGCGTTAGA
GTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATYAACTGAYATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAG
GCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTYATTGACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAAGCATGTGTGAATAACAC
CATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAATGGAACACGTTGTGGGTTGCTGAACATYGAGAGCGAAATGATCAAATTTGCCAGTTAC
TATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAAATATGCTTTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGAAAATTTT
ACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTSGGGGAGCTGAATACAAGATTCTCTGATGATRTTAATAAAATCAATGA
TGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGKTTGGAAACTGACCTTGGTT
ATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTAYGAGCTGAAGGCCTATGCCAAAGCAG
GGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGRGAAAARAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGC
CCAGCGTTGGGGAATTAGAAAAGGRATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGWGTTATGCACTGGCCTTCTGGTACGGC
TCCACACTTGTCCTGGATGAAGGAGAATATACACCAGGAACCCTTGTCCAGATTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTC
CTTGTTTGGAAGCCTTTGCAACTGGACGTGCAGCAGCCACCAGCATTTTTGARACAATAGACAGGAAACCCATCATTGACTGCATGTCAGAAGATGGTTA
CAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGTGACCTTCCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGGYC
ATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGARAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAA
TGGTGACCGTGGRTGGCCATGACATTCGCTCTCTTAACATTCAGTGGCTTAGAGATCAGATTGGGATAGTGGAGCAAGAGCCAGTTCTGTTCTCTACCAC
CATTGCAGAAAATATTCGCTATGGCAGAGAAGATGCAACAATGGAAGACATAGTCCAAGCTGCCAAGGAGGCCAATGCCTACAACTTCATCATGGACCTG
CCACAGCAATTTGACACCCTTGTTGGAGAAGGAGGAGGCCAGATGAGTGGTGGCCAGAAACAAAGGGTAGCTATCGCCAGAGCCCTCATCYGAAATCCCA
AGATTCTGCTTTTGGACATGGCCACCTCAGCTCTGGACAATGAGAGTGAAGCCATGGTGCAAGAAGTGCTGAGTAAGATTCAGCATGGGCACACAATCAT
TTCAGTTGCTCATCGCTTGTCTACGGTCAGAGCTGCAGATACCATCATTGGTTTTGAACATGGCACTGCAGTGGAAAGAGGGACCCATGAAGAATTACTG
GAAAGGAAAGGTGTTTACTTCACTCTAGTGACTTTGCAAAGCCAGGGAAATCAAGCTCTTAATGAAGAGGACATAAAGGATGCAACTGAAGATGACRTGC
TTGCGAGGACCTTTAGCAGAGGGAGCTACCAGGATAGTTTAAGGGCTTCCATCCGGCAACGCTCCAAGTCTCAGCTTTCTTACCTGGTGCACGAACCTCC
ATTAGCTGTTGTAGATCATAAGTCTACCTATGAAGAAGATAGAAAGGACAAGGACATTCCTGTGCAGGAAGAAGTTGAACCTGCCCCAGTTAGGAGGATT
CTGAAATTCAGTGCTCCAGAATGGCCCTACATGCTGGTAGGGTCTGTGGGTGCAGCTGTGAACGGGACAGTCACACCCTTGTATGCCTTTTTATTCAGCC
AGATTCTTGGGACTTTTTCAATTCCTGATAAAGAGGAACAAAGGTCACAGATCAATGGTGTGTGCCTACTTTTTGTAGCAATGGGCTGTGTATCTCTTTT
CACCCAATTTCTACAGGGATATGCCTTTGCTAAATCTGGGGAGCTCCTAACAAAAAGGCTACGTAAATTTGGTTTCAGGGCAATGCTGGGGCAAGATATT
GCCTGGTTTGATGACCTCAGAAATAGCCCTGGAGCATTGACAACAAGACTTGCTACAGATGCTTCCCAAGTTCAAGGGGCTGCCGGCTCTCAGATCGGGA
TGATAGTCAATTCCTTCACTAACGTCACTGTGGCCATGATCATTGCCTTCTCCTTTAGCTGGAAGCTGAGCCTGGTCATCTTGTGCTTCTTCCCCTTCTT
GGCTTTATCAGGAGCCACACAGACCAGGATGTTGACAGGATTTGCCTCTCGAGATAAGCAGGCCCTGGAGATGGTGGGACAGATTACAAATGAAGCCCTC
AGTAACATCCGCACTGTTGCTGGAATTGGAAAGGAGAGGCGGTTCATTGAAGCACTTGAGACTGAGCTGGAGAAGCCCTTCAAGACAGCCATTCAGAAAG
CCAATATTTACRGATTCTGCTTTGCCTTTGCCCAGTGCATCATGTTTATTGCGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGG
GCTCCATTTCAGCTATGTGTTCAGGGTGATCTCTGCAGTTGTACTGAGTGCRACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCT
AAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACYGACAACCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGA
TTGATTTTGTTGATTGTAAATTTACATATCCTTCTYGACCTGACTCGCAAGTTCTGAATGGTCTCTCAGTGTCGATTAGTCCAGGGCAGACACTGGCGTT
TGTTGGGAGCAGTGGATGTGGCAAAAGCACTAGCATTCAGCTGTTGGAACGTTTCTATGATCCTGATCAAGGGAAGGTGATGATAGATGGTCATGACAGC
AAAAAAGTAAATGTCCAGTTCCTCYGCTCAAACATTGGAATTGTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAG
ACAACACCAAAGAAATTCCCATGRAAAGAGTCATAGCAGCTGCAAAACAGGCTCAGCTGCATGATTTTGTCATGTCACTCCCAGAGAAATATGAAACTAA
CGTTGGGTCCCAGGGGTCTCAACTCTCTAGAGGGGAGAAACAACGCATTGCTATTGCTCGGGCCATTGTACGAGATCCTAAAATCTTGCTACTAGATGAA
GCCACTTCTGCCTTAGACACAGAAAGTGAAAAGACGGTGCAGGTTGCTCTAGACAAAGCCAGAGAGGGTCGGACCTGCATTGTCATTGCCCATCGCTTGT
CCACCATCCAGAACGCGGATATCATTGCTGTCATGGCACAGGGGGTGGTGATTGAAAAGGGGACCCATGAAGAACTGATGGCCCAAAAAGGAGCCTACTA
CAAACTAGTCACCACTGGATCCCCCATCAGTTGACCCAATGCAAGAATCTCAGACACACATGACGCACCAGTTACAGGGGTTGTTTTTAAAGAAAAAAAC
AATCCCAGCAGGAGGGATTGCTGGGATTGTTTTTTCTTTAAAGAAGAATGTTAATATTTTACTTTTACAGTCATTTTCCTACATCGGAATCCAAGCTAAT
TTCTAATGGCCTTCCATAATAATTCTGCTTTAGATGTGTATACAGAAAATGAAAGAAACTAGGGTCCATRTGAGGGAAAACCCAATGTCAAGTGGCAGCT
CAGCCACCACTCAGKGCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAG
GRCAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACAGAGGCGGGTCTRTAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGAT
TTGAAAAGAACAGAAGGACTGAAGACCAGCTGTGTTTCTTAACTAAATTTGTCTTTCAAGTGAAACCAGCTTCCTTCATCTCTAAGGCTAAGGATAGGGA
AAGGGTGGATGCTCTCAGGCTGAGGGAGGCAGAAAGGGAAAGTATTAGCATGAGCTTTCCAGTTAGGGCTGTTGATTTATGCTTTAACTTCAGAGTGAGT
GTAGGGGTGGTGATGCTA

Protein Sequence    (SEQ ID NO:701):
MSDSVILRSIKKFGEENDGFESDKSCEWLFSLTASCTRRDNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTM
TDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRME
IGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVIS
SMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATG
RAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDI
RSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMAT
SALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGS
YQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIP
DKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNV
TVAMIIAFSFSWKLSLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFA
FAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFT
YPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPME
RVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADII
AVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS


SNP Information

Context             (SEQ ID NO:1519):
GAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGGACAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACAGAGGCGGGTCT
R
TAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGATTTGAAAAGAACAGAAGGACTGAAGACCAGCTGTGTTTCTTAACTAAATTTGTCT
Celera SNP ID:            hCV8813542
SNP Position Transcript:  4554
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,8)      total(G,8|A,5)Gaucasian(A,25|G,35)   Ghinese(A,8|G,12)   Japanese(A,15|G,23)   African(G,15|A,45)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   Caucasian(A,25|G,35)   African American (pooled) - WICGR(G,32|A,68)   African-American(G,15|A,45)   no_pop(G,-|A,-)   Asians(A,23|G,35)   Asian (pooled) - WICGR(A,39|G,45)   Caucasian (pooled) - WICGR(A,36|G,60)   total(G,222|A,236)   no_pop(A,-|G,-)   JBIG-allele(A,643|G,842)   total(G,842|A,643)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:701, None   



Context             (SEQ ID NO:1520):
ACAAGGAGAGATAATAATGATAAGAAATCAAGGTTACAAGATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCAT
Y
AACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTT
Celera SNP ID:            hCV25634284
SNP Position Transcript:  335
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 70, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:1521):
AGCCACCACTCAGTGCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGG
R
CAGAGAACTGTCTTTCATTTTTGAACCCTCGGTGTACACAGAGGCGGGTCTGTAACAGGCAATCAACAAACGTTTCTTGAGCTAGACCAAGGTCAGATTT
Celera SNP ID:            hCV8813543
SNP Position Transcript:  4502
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:701, None   



Context             (SEQ ID NO:1522):
GAGATAATAATGATAAGAAATCAAGGTTACAAGATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGA
Y
ATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTTATTG
Celera SNP ID:            hCV25634285
SNP Position Transcript:  342
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 72, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:1523):
CCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGGTCATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGA
R
AAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATGGTGACCGTGGATGGCCATGACATTCGCTCTCTTAACATTCAGTGGCT
Celera SNP ID:            hCV1010678
SNP Position Transcript:  1549
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 475, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1524):
GTCATTTTCCTACATCGGAATCCAAGCTAATTTCTAATGGCCTTCCATAATAATTCTGCTTTAGATGTGTATACAGAAAATGAAAGAAACTAGGGTCCAT
R
TGAGGGAAAACCCAATGTCAAGTGGCAGCTCAGCCACCACTCAGTGCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCA
Celera SNP ID:            hCV8813544
SNP Position Transcript:  4370
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,71|G,1380)   total(G,1380|A,71)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:701, None   



Context             (SEQ ID NO:1525):
CTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTT
Y
ATTGACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGA
Celera SNP ID:            hCV25634286
SNP Position Transcript:  438
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,38)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 104, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:1526):
GAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGAAAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATGGTGACCGTGG
R
TGGCCATGACATTCGCTCTCTTAACATTCAGTGGCTTAGAGATCAGATTGGGATAGTGGAGCAAGAGCCAGTTCTGTTCTCTACCACCATTGCAGAAAAT
Celera SNP ID:            hCV27860860
SNP Position Transcript:  1613
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 496, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:1527):
CATAATAATTCTGCTTTAGATGTGTATACAGAAAATGAAAGAAACTAGGGTCCATGTGAGGGAAAACCCAATGTCAAGTGGCAGCTCAGCCACCACTCAG
K
GCTTCTCTGTGCAGGAGCCAGTCCTGATTAATATGTGGGAATTAGTGAGACATCAGGGAGTAAGTGACACTTTGAACTCCTCAAGGACAGAGAACTGTCT
Celera SNP ID:            hCV27509145
SNP Position Transcript:  4415
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:701, None   



Context             (SEQ ID NO:1528):
CCGCTCAAACATTGGAATTGTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACCAAAGAAATTCCCATG
R
AAAGAGTCATAGCAGCTGCAAAACAGGCTCAGCTGCATGATTTTGTCATGTCACTCCCAGAGAAATATGAAACTAACGTTGGGTCCCAGGGGTCTCAACT
Celera SNP ID:            hCV8813563
SNP Position Transcript:  3724
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;no_pop(G,-|A,-)   ;African American (pooled) - WICGR(A,3|G,97)   no_pop(G,-|A,-)   Asian (pooled) - WICGR(G,84)   Caucasian (pooled) - WICGR(A,1|G,95)   total(G,276|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 1200, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:1529):
AGTTGTACTGAGTGCGACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGAC
Y
GACAACCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGATTGATTTTGTTGATTGTAAATTTACATATCCTTCTCG
Celera SNP ID:            hCV894448
SNP Position Transcript:  3337
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 1071, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1530):
CGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAGCTATGTGTTCAGGGTGATCTCTGCAGTTGTACTGAGTGC
R
ACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACCGACAACCCCCAATCA
Celera SNP ID:            hCV8813572
SNP Position Transcript:  3252
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 1042, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:1531):
CACTGTTGCTGGAATTGGAAAGGAGAGGCGGTTCATTGAAGCACTTGAGACTGAGCTGGAGAAGCCCTTCAAGACAGCCATTCAGAAAGCCAATATTTAC
R
GATTCTGCTTTGCCTTTGCCCAGTGCATCATGTTTATTGCGAATTCTGCTTCCTACAGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAG
Celera SNP ID:            hCV560420
SNP Position Transcript:  3112
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 996, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:1532):
TCCAAGTTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTG
R
GAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGG
Celera SNP ID:            hCV27860859
SNP Position Transcript:  1058
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 311, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:1533):
ATGATGGTTTTGAGTCAGATAAATCATGTGAGTGGCTTTTTTCCCTCACTGCATCTTGTACAAGGAGAGATAATAATGATAAGAAATCAAGGTTACAAGA
Y
GAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCAT
Celera SNP ID:            hCV27505203
SNP Position Transcript:  276
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,366|T,1109)   total(C,366|T,1109) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 50, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1534):
AGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAATGGAACACGTTGTGGGTTGCTGAACAT
Y
GAGAGCGAAATGATCAAATTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAAATATGCTTTTGGGTCATTGCCGCAG
Celera SNP ID:            hCV25634302
SNP Position Transcript:  570
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,3)   caucasian(C,40)   total(C,59|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 148, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:1535):
TTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGAAAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGT
S
GGGGAGCTGAATACAAGATTCTCTGATGATATTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCT
Celera SNP ID:            hCV25634303
SNP Position Transcript:  753
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 209, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:1536):
TACAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGTGACCTTCCATTATCCTTCCAGACCAGAGGTGAAGATTCTAAATGACCTCAACATGG
Y
CATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGAAAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGA
Celera SNP ID:            hCV25473960
SNP Position Transcript:  1499
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,16)   caucasian(C,17|T,15)   total(C,33|T,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 458, (A,GCC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 458, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:1537):
TCAGGGGTTGGAAACTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTA
Y
GAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAA
Celera SNP ID:            hCV16182454
SNP Position Transcript:  975
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 283, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1538):
GAAAATGAGAAAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTGGGGGAGCTGAATACAAGATTCTCTGATGAT
R
TTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGGTTG
Celera SNP ID:            hCV25634304
SNP Position Transcript:  784
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,40)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 220, (I,ATT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,40)   total(A,76|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 220, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:1539):
TTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTGGCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAA
R
AGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTC
Celera SNP ID:            hCV16182455
SNP Position Transcript:  1064
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 313, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:1540):
GATATTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGG
K
TTGGAAACTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTATGAGCTG
Celera SNP ID:            hCV27859362
SNP Position Transcript:  881
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 252, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:1541):
AAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTG
W
GTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAGAATATACACCAGGAACCCTTGTCCAGATTTTCCTCAGTGTCATAGTAGG
Celera SNP ID:            hCV27859363
SNP Position Transcript:  1174
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 350, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:1542):
CCGACAACCCCCAATCAGTGTATACAATACTGCAGGTGAAAAATGGGACAACTTCCAGGGGAAGATTGATTTTGTTGATTGTAAATTTACATATCCTTCT
Y
GACCTGACTCGCAAGTTCTGAATGGTCTCTCAGTGTCGATTAGTCCAGGGCAGACACTGGCGTTTGTTGGGAGCAGTGGATGTGGCAAAAGCACTAGCAT
Celera SNP ID:            hCV27859364
SNP Position Transcript:  3436
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 1104, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1543):
TTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTGGAAGCCTTTGCAACTGGACGTGCAGCAGCCACCAGCATTTTTGA
R
ACAATAGACAGGAAACCCATCATTGACTGCATGTCAGAAGATGGTTACAAGTTGGATCGAATCAAGGGTGAAATTGAATTCCATAATGTGACCTTCCATT
Celera SNP ID:            hCV25634254
SNP Position Transcript:  1353
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 409, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:1544):
AAGCACTAGCATTCAGCTGTTGGAACGTTTCTATGATCCTGATCAAGGGAAGGTGATGATAGATGGTCATGACAGCAAAAAAGTAAATGTCCAGTTCCTC
Y
GCTCAAACATTGGAATTGTTTCCCAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACCAAAGAAATTCCCATGGA
Celera SNP ID:            hCV5842
SNP Position Transcript:  3625
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 1167, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:1545):
CATGGACCTGCCACAGCAATTTGACACCCTTGTTGGAGAAGGAGGAGGCCAGATGAGTGGTGGCCAGAAACAAAGGGTAGCTATCGCCAGAGCCCTCATC
Y
GAAATCCCAAGATTCTGCTTTTGGACATGGCCACCTCAGCTCTGGACAATGAGAGTGAAGCCATGGTGCAAGAAGTGCTGAGTAAGATTCAGCATGGGCA
Celera SNP ID:            hCV1010680
SNP Position Transcript:  1891
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 589, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:1546):
CATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGG
R
ATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGTGTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAG
Celera SNP ID:            hCV25473309
SNP Position Transcript:  1125
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,12)   caucasian(A,37|G,1)   total(A,55|G,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 333, (G,GGA)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:701, 333, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:1547):
ACTGGAAAGGAAAGGTGTTTACTTCACTCTAGTGACTTTGCAAAGCCAGGGAAATCAAGCTCTTAATGAAGAGGACATAAAGGATGCAACTGAAGATGAC
R
TGCTTGCGAGGACCTTTAGCAGAGGGAGCTACCAGGATAGTTTAAGGGCTTCCATCCGGCAACGCTCCAAGTCTCAGCTTTCTTACCTGGTGCACGAACC
Celera SNP ID:            hCV25634265
SNP Position Transcript:  2197
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,39|G,1)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:701, 691, (M,ATG)   (V,GTG)   



Gene Number:                 3
Celera Gene:                 hCG15017 - 145000147699189
Celera Transcript:           hCT6038 - 145000147699190
Public Transcript Accession: NM_007045
Celera Protein:              hCP35730 - 197000069409116
Public Protein Accession:    NP_008976
Gene Symbol:                 FOP
Protein Name:                FGFR1 oncogene partner;FOP
Celera Genomic Axis:         GA_x54KRFTF0F9(3520319..3562839)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:5):
CGGCCGCGTAGCCCGCGCGCGGAGCGTACCCTGCTGCGGCCGTTGGCCGTTAGCGCGGCTTCGGCGGTTGTCTTGGAGAAGCAAGATGGCGGCGACGRCG
GCCGCAGTGGTGGCCGAGGAGGACACGGAGCTGCGGGACCTGCTGGTGCAGACGCTGGAGAACAGCGGGGTCCTGAACCGCATCAAGGCTGAACTCCGAG
CAGCTGTGTTTTTAGCACTAGAGGAGCAAGAAAAAGTAGAGAACAAAACTCCTTTAGTTAATGAGAGCCTGAAAAAGTTTTTAAATACCAAAGACGGTCG
TTTAGTGGCTAGTCTTGTTGCAGAATTTCTTCAGTTTTTTAACCTTGACTTTACTTTGGCTGTTTTTCAACCTGAAACTAGCACACTGCAAGGTCTCGAA
GGTCGAGAGAATTTAGCCCGAGATTTAGGTATAATTGAAGCAGAAGGTACTGTGGGTGGACCCTTATTATTAGAAGTGATCAGGCGCTGTCAACAGAAAG
AAAAAGGGCCAACCACTGGGGAAGGTGCACTTGATCTATCTGATGTACATTCTCCACCAAAGTCACCAGAGGGAAAAACAAGTGCACAGACAACACCAAG
TAAGATACCAAGGTATAAAGGACAAGGTAAGAAGAAGACAAGCGGGCAGAAGGSTGGTGACAAGAAGGCCAATGATGAGGCCAATCAGAGTGATAYAAGT
GTCTCCTTGTCAGAACCCAAGAGCAAAAGCAGCCTTCACTTACTGTCCCATGAAACAAAAATTGGATCTTTTCTAAGCAACAGAACTTTAGATGGCAAAG
ACAAAGCTGGCCTTTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATCCCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAAKGA
ACCTAGGAAGCAASCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCTYCTTTAAAAGACTCT
GAGAGTAAAAGGGGAAATACAGTTTTGAAAGATCTGAAATTGATCAGTGATAAAATTGGATCACTTGGATTAGGAACTGGAGAAGATGATGACTATGTTG
ATGATTTTAATAGTACCAGCCATCGCTCAGAGAAAAGTGAGATAAGTATTGGTGAAGAGATAGAAGAAGACCTTTCTGTGGAAATAGATGACATCAATAC
CAGTGATAAGCTTGATGACCTCACACAAGATCTGACTGTATCCCAGCTCAGTGATGTTGCGGATTATCTGGAAGATGTTGCATAGACACGAAGAAGGAAG
TATTCTAATTAACAAGGACAGAGGACTGACCGGTTCCATTTTTTTTTTTTTCCAGACAATCACTCAGCTGGAATGTCTGCTCTCTATTGGTGCCTTGCAT
TTCAAAAACACTGCAGATATTTTTTAAAAGTAATTTTCATTTTACTAAACAAAATACTTCCTATTTGAGCCCATGTGTGGAAGATTTAATATTCTTAATT
TAACTGTACATTTCTTTATGGAAATTGATTATCTACACTCAGTTTCATTACAGGGAAGGAACCCATGAAAACATCAGTGTTAAGAGCATGATGAAAGGTG
TCAATAAAGCCGTAGGATCGCGCAACCCTTTGTGTGTGTGGCTGCTGGTACGTGTGATCTTTGAAAACCTTGGCTTTAGCCCTCTGGAATCAGAGCTTAC
CCACCATAGTATATTTTGATATTAGGTGGTTCTACACATAGTTGGCAAAATGACTTGGTAAATTTGTAATGCTGAAGTATATTAGTATAAGTTAAATTTG
ATGTGTCAACTTTATTTTGTATTTCCTTCCATTTGGAAGGTTTGTTAGACCATTAAGGTTATATTAAAGTACTCTTGTGTGTGCTATTTAGTTTTGCTTG
TTTTAAAGAAATCTAGMAGTGGTTATGAGTTTTAATTCATAGAATTGTCAATAACATAACATTTGCAATCGTCATTCCTCCTGTTATCCATGTAAGCAGC
TTTAGTCGTAGGTTCTCTTCATTATAATTTATTATCTGTAAAGATTCCTTGAAACTTATTCAGTACCAAAATGCATCTGAAACCATTAAGCAGTGCTTTT
ATTTCAGATCTGTAAGTTAATTGTATTAAAATCCAAATTGGAATGAAATAGTAGTAATGGCCTAAGACCATGTTCAGTTTGACAAGCTTTATATACTGTA
CATAATTTCATTGTAACCCTTAAAAATAGAGCCAATAATAGAATTTCCACAGTCTCATTTATACRGTTAAAGCATTATTGCTATTATGTAGGTCACGGAT
GTTTATAATACTAAAGTATTTTAAAATGTGCAAGTAGAAAAAACAGTAGAAAGTGATGCATGCATATTTATATATAAGTAAAGCAGGATTGTGCTGTTTT
TGCACTTTATAATTTCAATTAAGTTGCGGCTTTTTACTACAAGTTAACTTTATTAGTAAAAGGAGCAAATTAGACCTAATTCATTGATCTCGGTTAAGTG
AGCAGACTGYATGACTTGTGTAATGCCAGTTTCTCATTTCATATTAGCCTAAATATTACAGAAATTACTCCTTGGGCTCTAAAATGTAGAGGAAATGAAA
ATGTAAGGATTAAGGCTGTGTAACAGAATCTGGCTTTTTAAAATTTAAGTGAAACTAAGCTGTAAACATCAAGAGGAAGTAGGACATAAACTGGGCCGGT
ACAGCCTGGGAGCCCTGTGTATTTCTGCCCTCYGTCTGTGAGCTGCTATCTCAGTCTCCTTCAGCTCTTCATGTCTTAGTAAACAGCACCACGTGCAGAT
GTAATCTTGTTGCAGTCCCCCAGTGTGGTTGTTATAAAATGCATTTCTTTGTAAGTCATCTCTGTAAACAGTCACTTTCTAAAAGCACTATAGTTCTGGT
CCCCTGGAATCTGGATCACATGTATGATTTATTTTTAATATTTGATAGGAACTAGGTTTCAGTGAAATGRTTTGAAAGCATAGCAGGATGTGGCTTTTTA
AATTTATGAAACTTTCGAACAGTAGCAACTGAAATTTGTCACTTTTCTGTTACGCAGAGAATCAGACCTTTTGATAATATTTGGGAGGGTAAAAGAAATA
TGCCAAATATGAAACTTTTTTGTCAGCACTACATACATCTTTTTTTTGCGGGGGGCGGGGGGGACAGAGTCT

Protein Sequence    (SEQ ID NO:702):
MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETST
LQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEAN
QSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAP
SLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA


SNP Information

Context             (SEQ ID NO:1548):
CCACCAAAGTCACCAGAGGGAAAAACAAGTGCACAGACAACACCAAGTAAGATACCAAGGTATAAAGGACAAGGTAAGAAGAAGACAAGCGGGCAGAAGG
S
TGGTGACAAGAAGGCCAATGATGAGGCCAATCAGAGTGATACAAGTGTCTCCTTGTCAGAACCCAAGAGCAAAAGCAGCCTTCACTTACTGTCCCATGAA
Celera SNP ID:            hCV25635104
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 190, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:1549):
TTGTATTTCCTTCCATTTGGAAGGTTTGTTAGACCATTAAGGTTATATTAAAGTACTCTTGTGTGTGCTATTTAGTTTTGCTTGTTTTAAAGAAATCTAG
M
AGTGGTTATGAGTTTTAATTCATAGAATTGTCAATAACATAACATTTGCAATCGTCATTCCTCCTGTTATCCATGTAAGCAGCTTTAGTCGTAGGTTCTC
Celera SNP ID:            hCV9699288
SNP Position Transcript:  1917
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,10)      total(A,10|C,3) ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:702, None   



Context             (SEQ ID NO:1550):
TTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATCCCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAAGGAACCTAGGAAGCAA
S
CAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCTTCTTTAAAAGACTCTGAGAGTAAAAGGGG
Celera SNP ID:            hCV25635096
SNP Position Transcript:  914
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 277, (P,CCA)   (A,GCA)   



Context             (SEQ ID NO:1551):
CGGTTTGAGGAAGGAACCTAGGAAGCAAGCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCT
Y
CTTTAAAAGACTCTGAGAGTAAAAGGGGAAATACAGTTTTGAAAGATCTGAAATTGATCAGTGATAAAATTGGATCACTTGGATTAGGAACTGGAGAAGA
Celera SNP ID:            hCV25635097
SNP Position Transcript:  986
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 301, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:1552):
CGGCCGCGTAGCCCGCGCGCGGAGCGTACCCTGCTGCGGCCGTTGGCCGTTAGCGCGGCTTCGGCGGTTGTCTTGGAGAAGCAAGATGGCGGCGACG
R
CGGCCGCAGTGGTGGCCGAGGAGGACACGGAGCTGCGGGACCTGCTGGTGCAGACGCTGGAGAACAGCGGGGTCCTGAACCGCATCAAGGCTGAACTCCG
Celera SNP ID:            hCV29429225
SNP Position Transcript:  98
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 5, (T,ACG)   (A,GCG)      



Context             (SEQ ID NO:1553):
GCTTTTTAAAATTTAAGTGAAACTAAGCTGTAAACATCAAGAGGAAGTAGGACATAAACTGGGCCGGTACAGCCTGGGAGCCCTGTGTATTTCTGCCCTC
Y
GTCTGTGAGCTGCTATCTCAGTCTCCTTCAGCTCTTCATGTCTTAGTAAACAGCACCACGTGCAGATGTAATCTTGTTGCAGTCCCCCAGTGTGGTTGTT
Celera SNP ID:            hCV610577
SNP Position Transcript:  2733
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:702, None   



Context             (SEQ ID NO:1554):
TAATTTCAATTAAGTTGCGGCTTTTTACTACAAGTTAACTTTATTAGTAAAAGGAGCAAATTAGACCTAATTCATTGATCTCGGTTAAGTGAGCAGACTG
Y
ATGACTTGTGTAATGCCAGTTTCTCATTTCATATTAGCCTAAATATTACAGAAATTACTCCTTGGGCTCTAAAATGTAGAGGAAATGAAAATGTAAGGAT
Celera SNP ID:            hCV27888056
SNP Position Transcript:  2510
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:702, None   



Context             (SEQ ID NO:1555):
AGACCATGTTCAGTTTGACAAGCTTTATATACTGTACATAATTTCATTGTAACCCTTAAAAATAGAGCCAATAATAGAATTTCCACAGTCTCATTTATAC
R
GTTAAAGCATTATTGCTATTATGTAGGTCACGGATGTTTATAATACTAAAGTATTTTAAAATGTGCAAGTAGAAAAAACAGTAGAAAGTGATGCATGCAT
Celera SNP ID:            hCV11224508
SNP Position Transcript:  2265
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:702, None   



Context             (SEQ ID NO:1556):
AGTCACTTTCTAAAAGCACTATAGTTCTGGTCCCCTGGAATCTGGATCACATGTATGATTTATTTTTAATATTTGATAGGAACTAGGTTTCAGTGAAATG
R
TTTGAAAGCATAGCAGGATGTGGCTTTTTAAATTTATGAAACTTTCGAACAGTAGCAACTGAAATTTGTCACTTTTCTGTTACGCAGAGAATCAGACCTT
Celera SNP ID:            hCV3263659
SNP Position Transcript:  2970
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,14)      total(G,1|A,14) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:702, None   



Context             (SEQ ID NO:1557):
CCAAGTAAGATACCAAGGTATAAAGGACAAGGTAAGAAGAAGACAAGCGGGCAGAAGGCTGGTGACAAGAAGGCCAATGATGAGGCCAATCAGAGTGATA
Y
AAGTGTCTCCTTGTCAGAACCCAAGAGCAAAAGCAGCCTTCACTTACTGTCCCATGAAACAAAAATTGGATCTTTTCTAAGCAACAGAACTTTAGATGGC
Celera SNP ID:            hCV25921839
SNP Position Transcript:  696
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 204, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:1558):
AAGACAAAGCTGGCCTTTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATCCCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAA
K
GAACCTAGGAAGCAAGCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCTTCTTTAAAAGACT
Celera SNP ID:            hCV25635092
SNP Position Transcript:  898
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,39|T,1)   total(G,74|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:702, 271, (K,AAG)   (N,AAT)   



Gene Number:                 3
Celera Gene:                 hCG15017 - 145000147699189
Celera Transcript:           hCT1961267 - 145000147699207
Public Transcript Accession: NM_007045
Celera Protein:              hCP1774679 - 197000069409118
Public Protein Accession:    NP_008976
Gene Symbol:                 FOP
Protein Name:                FGFR1 oncogene partner;FOP
Celera Genomic Axis:         GA_x54KRFTF0F9(3520319..3562839)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:6):
CGGCCGCGTAGCCCGCGCGCGGAGCGTACCCTGCTGCGGCCGTTGGCCGTTAGCGCGGCTTCGGCGGTTGTCTTGGAGAAGCAAGATGGCGGCGACGRCG
GCCGCAGTGGTGGCCGAGGAGGACACGGAGCTGCGGGACCTGCTGGTGCAGACGCTGGAGAACAGCGGGGTCCTGAACCGCATCAAGGCTGAACTCCGAG
CAGCTGTGTTTTTAGCACTAGAGGAGCAAGAAAAAGTAGAGAACAAAACTCCTTTAGTTAATGAGAGCCTGAAAAAGTTTTTAAATACCAAAGACGGTCG
TTTAGTGGCTAGTCTTGTTGCAGAATTTCTTCAGTTTTTTAACCTTGACTTTACTTTGGCTGTTTTTCAACCTGAAACTAGCACACTGCAAGGTCTCGAA
GGTCGAGAGAATTTAGCCCGAGATTTAGGTATAATTGAAGCAGAAGGTACTGTGGGTGGACCCTTATTATTAGAAGTGATCAGGCGCTGTCAACAGAAAG
AAAAAGGGCCAACCACTGGGGAAGGTGCACTTGATCTATCTGATGTACATTCTCCACCAAAGTCACCAGAGGGAAAAACAAGTGCACAGACAACACCAAG
TAAGAAGGCCAATGATGAGGCCAATCAGAGTGATAYAAGTGTCTCCTTGTCAGAACCCAAGAGCAAAAGCAGCCTTCACTTACTGTCCCATGAAACAAAA
ATTGGATCTTTTCTAAGCAACAGAACTTTAGATGGCAAAGACAAAGCTGGCCTTTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATC
CCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAAKGAACCTAGGAAGCAASCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGG
ACTCAGCTCCCTGGCGGGAGCCCCTYCTTTAAAAGACTCTGAGAGTAAAAGGGGAAATACAGTTTTGAAAGATCTGAAATTGATCAGTGATAAAATTGGA
TCACTTGGATTAGGAACTGGAGAAGATGATGACTATGTTGATGATTTTAATAGTACCAGCCATCGCTCAGAGAAAAGTGAGATAAGTATTGGTGAAGAGA
TAGAAGAAGACCTTTCTGTGGAAATAGATGACATCAATACCAGTGATAAGCTTGATGACCTCACACAAGATCTGACTGTATCCCAGCTCAGTGATGTTGC
GGATTATCTGGAAGATGTTGCATAGACACGAAGAAGGAAGTATTCTAATTAACAAGGACAGAGGACTGACCGGTTCCATTTTTTTTTTTTTCCAGACAAT
CACTCAGCTGGAATGTCTGCTCTCTATTGGTGCCTTGCATTTCAAAAACACTGCAGATATTTTTTAAAAGTAATTTTCATTTTACTAAACAAAATACTTC
CTATTTGAGCCCATGTGTGGAAGATTTAATATTCTTAATTTAACTGTACATTTCTTTATGGAAATTGATTATCTACACTCAGTTTCATTACAGGGAAGGA
ACCCATGAAAACATCAGTGTTAAGAGCATGATGAAAGGTGTCAATAAAGCCGTAGGATCGCGCAACCCTTTGTGTGTGTGGCTGCTGGTACGTGTGATCT
TTGAAAACCTTGGCTTTAGCCCTCTGGAATCAGAGCTTACCCACCATAGTATATTTTGATATTAGGTGGTTCTACACATAGTTGGCAAAATGACTTGGTA
AATTTGTAATGCTGAAGTATATTAGTATAAGTTAAATTTGATGTGTCAACTTTATTTTGTATTTCCTTCCATTTGGAAGGTTTGTTAGACCATTAAGGTT
ATATTAAAGTACTCTTGTGTGTGCTATTTAGTTTTGCTTGTTTTAAAGAAATCTAGMAGTGGTTATGAGTTTTAATTCATAGAATTGTCAATAACATAAC
ATTTGCAATCGTCATTCCTCCTGTTATCCATGTAAGCAGCTTTAGTCGTAGGTTCTCTTCATTATAATTTATTATCTGTAAAGATTCCTTGAAACTTATT
CAGTACCAAAATGCATCTGAAACCATTAAGCAGTGCTTTTATTTCAGATCTGTAAGTTAATTGTATTAAAATCCAAATTGGAATGAAATAGTAGTAATGG
CCTAAGACCATGTTCAGTTTGACAAGCTTTATATACTGTACATAATTTCATTGTAACCCTTAAAAATAGAGCCAATAATAGAATTTCCACAGTCTCATTT
ATACRGTTAAAGCATTATTGCTATTATGTAGGTCACGGATGTTTATAATACTAAAGTATTTTAAAATGTGCAAGTAGAAAAAACAGTAGAAAGTGATGCA
TGCATATTTATATATAAGTAAAGCAGGATTGTGCTGTTTTTGCACTTTATAATTTCAATTAAGTTGCGGCTTTTTACTACAAGTTAACTTTATTAGTAAA
AGGAGCAAATTAGACCTAATTCATTGATCTCGGTTAAGTGAGCAGACTGYATGACTTGTGTAATGCCAGTTTCTCATTTCATATTAGCCTAAATATTACA
GAAATTACTCCTTGGGCTCTAAAATGTAGAGGAAATGAAAATGTAAGGATTAAGGCTGTGTAACAGAATCTGGCTTTTTAAAATTTAAGTGAAACTAAGC
TGTAAACATCAAGAGGAAGTAGGACATAAACTGGGCCGGTACAGCCTGGGAGCCCTGTGTATTTCTGCCCTCYGTCTGTGAGCTGCTATCTCAGTCTCCT
TCAGCTCTTCATGTCTTAGTAAACAGCACCACGTGCAGATGTAATCTTGTTGCAGTCCCCCAGTGTGGTTGTTATAAAATGCATTTCTTTGTAAGTCATC
TCTGTAAACAGTCACTTTCTAAAAGCACTATAGTTCTGGTCCCCTGGAATCTGGATCACATGTATGATTTATTTTTAATATTTGATAGGAACTAGGTTTC
AGTGAAATGRTTTGAAAGCATAGCAGGATGTGGCTTTTTAAATTTATGAAACTTTCGAACAGTAGCAACTGAAATTTGTCACTTTTCTGTTACGCAGAGA
ATCAGACCTTTTGATAATATTTGGGAGGGTAAAAGAAATATGCCAAATATGAAACTTTTTTGTCAGCACTACATACATCTTTTTTTTGCGGGGGGCGGGG
GGGACAGAGTCT

Protein Sequence    (SEQ ID NO:703):
MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETST
LQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLL
SHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLI
SDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA


SNP Information

Context             (SEQ ID NO:1559):
TTGTATTTCCTTCCATTTGGAAGGTTTGTTAGACCATTAAGGTTATATTAAAGTACTCTTGTGTGTGCTATTTAGTTTTGCTTGTTTTAAAGAAATCTAG
M
AGTGGTTATGAGTTTTAATTCATAGAATTGTCAATAACATAACATTTGCAATCGTCATTCCTCCTGTTATCCATGTAAGCAGCTTTAGTCGTAGGTTCTC
Celera SNP ID:            hCV9699288
SNP Position Transcript:  1857
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,10)      total(A,10|C,3) ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:703, None   



Context             (SEQ ID NO:1560):
TTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATCCCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAAGGAACCTAGGAAGCAA
S
CAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCTTCTTTAAAAGACTCTGAGAGTAAAAGGGG
Celera SNP ID:            hCV25635096
SNP Position Transcript:  854
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:703, 257, (P,CCA)   (A,GCA)   



Context             (SEQ ID NO:1561):
CGGTTTGAGGAAGGAACCTAGGAAGCAAGCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCT
Y
CTTTAAAAGACTCTGAGAGTAAAAGGGGAAATACAGTTTTGAAAGATCTGAAATTGATCAGTGATAAAATTGGATCACTTGGATTAGGAACTGGAGAAGA
Celera SNP ID:            hCV25635097
SNP Position Transcript:  926
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:703, 281, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:1562):
CGGCCGCGTAGCCCGCGCGCGGAGCGTACCCTGCTGCGGCCGTTGGCCGTTAGCGCGGCTTCGGCGGTTGTCTTGGAGAAGCAAGATGGCGGCGACG
R
CGGCCGCAGTGGTGGCCGAGGAGGACACGGAGCTGCGGGACCTGCTGGTGCAGACGCTGGAGAACAGCGGGGTCCTGAACCGCATCAAGGCTGAACTCCG
Celera SNP ID:            hCV29429225
SNP Position Transcript:  98
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:703, 5, (T,ACG)   (A,GCG)      



Context             (SEQ ID NO:1563):
GCTTTTTAAAATTTAAGTGAAACTAAGCTGTAAACATCAAGAGGAAGTAGGACATAAACTGGGCCGGTACAGCCTGGGAGCCCTGTGTATTTCTGCCCTC
Y
GTCTGTGAGCTGCTATCTCAGTCTCCTTCAGCTCTTCATGTCTTAGTAAACAGCACCACGTGCAGATGTAATCTTGTTGCAGTCCCCCAGTGTGGTTGTT
Celera SNP ID:            hCV610577
SNP Position Transcript:  2673
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:703, None   



Context             (SEQ ID NO:1564):
TAATTTCAATTAAGTTGCGGCTTTTTACTACAAGTTAACTTTATTAGTAAAAGGAGCAAATTAGACCTAATTCATTGATCTCGGTTAAGTGAGCAGACTG
Y
ATGACTTGTGTAATGCCAGTTTCTCATTTCATATTAGCCTAAATATTACAGAAATTACTCCTTGGGCTCTAAAATGTAGAGGAAATGAAAATGTAAGGAT
Celera SNP ID:            hCV27888056
SNP Position Transcript:  2450
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:703, None   



Context             (SEQ ID NO:1565):
AGACCATGTTCAGTTTGACAAGCTTTATATACTGTACATAATTTCATTGTAACCCTTAAAAATAGAGCCAATAATAGAATTTCCACAGTCTCATTTATAC
R
GTTAAAGCATTATTGCTATTATGTAGGTCACGGATGTTTATAATACTAAAGTATTTTAAAATGTGCAAGTAGAAAAAACAGTAGAAAGTGATGCATGCAT
Celera SNP ID:            hCV11224508
SNP Position Transcript:  2205
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:703, None   



Context             (SEQ ID NO:1566):
AGTCACTTTCTAAAAGCACTATAGTTCTGGTCCCCTGGAATCTGGATCACATGTATGATTTATTTTTAATATTTGATAGGAACTAGGTTTCAGTGAAATG
R
TTTGAAAGCATAGCAGGATGTGGCTTTTTAAATTTATGAAACTTTCGAACAGTAGCAACTGAAATTTGTCACTTTTCTGTTACGCAGAGAATCAGACCTT
Celera SNP ID:            hCV3263659
SNP Position Transcript:  2910
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,14)      total(G,1|A,14) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:703, None   



Context             (SEQ ID NO:1567):
CTATCTGATGTACATTCTCCACCAAAGTCACCAGAGGGAAAAACAAGTGCACAGACAACACCAAGTAAGAAGGCCAATGATGAGGCCAATCAGAGTGATA
Y
AAGTGTCTCCTTGTCAGAACCCAAGAGCAAAAGCAGCCTTCACTTACTGTCCCATGAAACAAAAATTGGATCTTTTCTAAGCAACAGAACTTTAGATGGC
Celera SNP ID:            hCV25921839
SNP Position Transcript:  636
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:703, 184, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:1568):
AAGACAAAGCTGGCCTTTGTCCAGATGAAGATGATATGGAAGGAGATTCTTTCTTTGATGATCCCATTCCTAAGCCAGAGAAAACTTACGGTTTGAGGAA
K
GAACCTAGGAAGCAAGCAGGAAGTCTGGCCTCGCTCTCGGATGCACCCCCCTTAAAAAGTGGACTCAGCTCCCTGGCGGGAGCCCCTTCTTTAAAAGACT
Celera SNP ID:            hCV25635092
SNP Position Transcript:  838
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,39|T,1)   total(G,74|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:703, 251, (K,AAG)   (N,AAT)   



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT2303051 - 209000073632497
Public Transcript Accession: NM_003872
Celera Protein:              hCP1807716 - 209000073632560
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11218859..11335153)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:7):
AGAGAGGAGCAGAGCATGTTTGGGACATAACAAAGGATCTGAGTACCCAAACACCGTACGCCACCCAACTCCTCTTGTAACGCCATCGCGCGTGGCATTG
TGTTGGGTTCTGCGTGTGTGGCATCGGAGTCGTGGAATTTAGGGGGAACAAGGCTTTTCCCCCCGTCCCCCCGGGGTCTCCCTTGGGTGGGGGCGACACG
GCCAAGGGCGGCGCGCCCTGGGGGTGCCCGGGGGCGCTTCTTCCCCAGGGCGTTACGCACCGGCGGCCCGGCGCGGAGGAGCTACTCTCCTCCTGGTGAG
GTGGAAATTCCAGCAAGAATAGAGGTGAAGACAAGCCACCAGGACTCAGGAGGGAAACGCTGACCATTAGAAACCTCTGCATAAGACGTTGTAAGGAGGA
AAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCACYTTCTCCAAAATGGATATGTTTCCTCTCACCT
GGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCAC
CTCTCCCGGTTACCCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCT
CACTTTGAAATCGAGAAGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACA
TCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGAT
CTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGAC
TGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACT
GCAAGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATC
GACRGGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAAC
TTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAAC
AAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGC
CATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTG
TACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTA
GAATCCGCCCTCAGACCTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCT
CTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGG
TTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCG
GAGGAGACAGTATCACTGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCC
CAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATAC
CCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGACTCCAAGCCCACGGTAGAGACGCTGGGACCCACTG
TGAAGAGCGAAGAGACAACCACCCCCTACCCCACCGAAGAGGAGGCCACAGAGTGTGGGGAGAACTGCAGCTTTGAGGATGACAAAGATTTGCAGCTCCC
TTCGGGATTCAATTGCAACTTCGATTTCCTCGAGGAGCCCTGTGGTTGGATGTATGACCATGCCAAGTGGCTCCGGACCACCTGGGCCAGCAGCTCCAGC
CCAAACGACCGGACGTTTCCAGATGACAGGAATTTCTTGCGGCTGCAGAGTGACAGCCAGAGAGAGGGCCAGTATGCCCGGCTCATCAGCCCCCCTGTCC
ACCTGCCCCGAAGCCCGGTGTGCATGGAGTTCCAGTACCAGGCCACGGGCGGCCGCGGGGTGGCGCTGCAGGTGGTGCGGGAAGCCAGCCAGGAGAGCAA
GTTGCTGTGGGTCATCCGTGAGGACCAGGGCGGCGAGTGGAAGCACGGGCGGATCATCCTGCCCAGCTACGACATGGAGTACCAGATTGTGTTCGAGGGA
GTGATAGGGAAAGGACGTTCCGGAGAGATTGCCATTGATGACATTCGGATAAGCACTGATGTCCCACTGGAGAACTGCATGGAACCCATCTCGGCTTTTG
CAGATGAATACGAGGTGGACTGGAGCAATTCTTCTTCTGCAACCTCAGGGTCTGGCGCCCCCTCGACCGACAAAGAAAAGAGCTGGCTGTACACCCTGGA
TCCCATCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGC
CTGAGYTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTAYGATGGCCTTAAGCACAAGGTCAAGATGAACCACCARAAGTGCTGCTCCG
AGGCATGACRGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCAT
AATCTCGATCAAACCRATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCC
TCCTAGGACCGCGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGT
TTGTGAGTTTGWATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTT
TCCAGAATAGAAGTGGAGCAGTGATCATTATTCTCCGCTTTCTCTTTCTAATCAACACTTGAAAAGCAAAGTGTCTTTTCAGCCTTTCCATCTTTACAAA
TAAAACTCAAAAAAGCCGTCCAGCTTATCCCATCCTCTGATTGTCTTCTGACTTAAGGGATTTACTGTGGTGTAGGTTCTGCCAGCCAACCCTACAAGCT
GCCATTTCCAGTCCTAGCATTTAAGTAGGATGTTGTTGCCTTTAACTTTTCTTATCCAGGGGAAAATTGCCATTTTAGGGTCAGCATGAACAGCTCTTTC
TTGTATGCGATTTAAAACAAACTGGAAAGGAAACTTCACACGTCAAAATCCATAGAAGCGCCTGGACGAGGCTTAAAGTGCTTTGTGAGTGAATAGGAGC
CATTCGCTAATTCTAGACCCACAGTGTCTGGTGGTGGGGCTTCCCTTGTGGGGCTTCTGGTGGTGGTTTTGCCTTTTCTTTTCCCTCCTCCATGTTCTTC
TAAAACATATACATATATACATACACACATACACATATTCTTCAGGTCTCTAAGCCCCTGGAAGCAGCATTGTGTGATATTCTCAGAGGCAGGGGAAAAT
AGAGGGAAAAATAGAGACTATTGGTATGTTCTCCCCATCAGCGAGTTATTGTAACTGGTCACCACTGGACGGGAAGGAGAACAGAGGAGAGGGAAAGAGA
AGCCCAACCTCTGTGATCATATGAGGGCCAAGGCTGAGCAGTGTAGACAGAGACCCTTTGAAATGCATTTGTCTCTCAAATAGACTAGTAAACACCGACT
TCTCCTTTGGGTTACAAACACCATTTCAACCTTTCGGGAGAGTCAGAGCTAGGATGTACAAGAACTGATTCTAACCAGAAGTCCGCAAGTACTGTGGACA
AGAATGCTTAACCATGCTGCTTCAGCCTTGAGAGACCTAGGTTCTTACACATATGCACACACGCATACACACATGCACGCACACACACATACACACATGC
ACGCACGCACGCATGCACACCAATTTATGTTTTTATTAAGTGCCTTGAAAAAATGAAGAAAAATGTATTTTCCCTTTATGTAAAAATTAGTGAATATCTT
ATGAATTAAGGCATTCCTCTTTCCCTAACCCCGATGGCTCCATTCCCAAGTACCCCAACTCACTGCTGATCCTATTAAAGGAATGAGTCCTGCTACCCGA
GTGGTAGTCATAGCCCTAGATGACTCTCAACTACTCTTCAAAGGGAGGCATCAGGAATAGAATGAAACTGTGTGAAGGATAAGATTGTTCGCATCAAGAT
CCAAATCTTGATTTCATATTAACGCCTAAGGATTGCCTGTGTGCTGGAAATATATTTGAAACTCAACCAGTATGCCCAGCCTATTGCATATCATTGTCAG
ACCATTTTTGCTGCTGTGGTCACCCACGATTTCATTTGTCTTATACCCAGGTGAAAGGGGAAGGGTGAATGGGACTGGCTGGTTCCTTTAAATGTTAACT
TATGGAAATGCTAGTTCAAATGGTAATGTCACAGTGTTTTGTATGCAGAGAGCAAGAGTTCAACCAACAGCTGTTTATTCATGTGTGTGTGTCTTTGCTG
CTTTGAGTTCTCTGTATCTACTGTGTATGTGAATGGTCATGTGGGACTCAGTGGTGGTGTTGTGACTTTGACCTAGGGTCCGAGTGTCACAGCTGATCTT
GGCACTCGGCACTCATTGGCACAGTGGTAGTTAGAGGTGAAAAGTAGAGCTGTCAAGCCCAAGGGCTTAGCTTTAGGGCTCCTCCTGAGTTCGGCCCACA
GTAGAAGCAAGATTTTAACTAGCCCCTTTTCCTCTTCACCCTCCCATGATGCGCAGTGTTCAGAAAGCTGGTAAGTCCTAGGGATTTCCAGAAGTAGCCT
GCAGAAGAAGGTAAGTTTGAAAGCCACTCCAGGGGTCCTGATGCTGTCATGCTCAGTGAGCCATTTTACAGTTCTCCAAAGTCTAGCCCTGTTTCGGACC
TGCACTTCACCTCTAAGTTATGTACAACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTT
GAATGCTAAAAAGAAGCAGGGTACGSAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGSTCTGTCRTAAGACAGAAAGAAAGACGCTGGGCCCA
ATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGACCCATCTCCTTGAGTCATTCCCTTTGGGAAACCCC
ACTGCCAGTATTGATCTCCTTTTTGCCTTGTACTGAATGACACATTACCTCCACACTCTCCCGGACTAGGTGGTCAACAGGGCCACAGGGTTGCTTTCTG
TCTTTGGTGGGGCAGGGGAGTTGACAGGGATGAGGGTCCAAGGAATAAGCATGAATGACAAGAAAACAAGGGAAAGAGTTAACCTGTCACATAGCAGGTT
AACTTTTTCAGGGTTTGCAGTTAGAGGTATTCGACCATTCACTGGCTGAGCCAGATCACGGGAACTTGAGAGCTTTTACTGTGATTCTTCAATGTAAAAA
ATAAACAACAATGTCAAACTGTGTTTATATGATTTGTATAAAGCCTTTTTAAGATTACTATTTAAATAAACATTATACCAGAGAT

Protein Sequence    (SEQ ID NO:704):
MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL
LGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP
LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS
DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA
PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG
VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT
VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYA
RLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENC
MEPISAFADEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKM
NHQKCCSEA


SNP Information

Context             (SEQ ID NO:1569):
TCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAG
Y
TCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCAT
Celera SNP ID:            hCV25636146
SNP Position Transcript:  3106
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 876, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 876, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:1570):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 128, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1571):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:704, 158, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1572):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1882
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 468, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 468, (V,GTC)   (V,GTT)      468, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1573):
CGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTG
W
ATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAA
Celera SNP ID:            hCV11722403
SNP Position Transcript:  3512
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|T,3|-,8)   total(A,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1574):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  1204
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 242, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1575):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 290, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1576):
CGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGAC
R
GATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATC
Celera SNP ID:            hCV29134890
SNP Position Transcript:  3210
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1577):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1549
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:704, 357, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:704, 357, (Y,TAC)   (Y,TAT)      357, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1578):
AAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  2152
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 558, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 558, (P,CCG)   (P,CCT)      558, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:1579):
GGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTA
Y
GATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGA
Celera SNP ID:            hCV29134888
SNP Position Transcript:  3151
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 891, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1580):
GTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCA
R
AAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGA
Celera SNP ID:            hCV29134889
SNP Position Transcript:  3187
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:704, 903, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1581):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  846
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:704, 123, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:704, 123, (K,AAG)   (R,AGG)      123, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1582):
TGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTC
R
TAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGACCCATCT
Celera SNP ID:            hCV2186445
SNP Position Transcript:  5772
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;POOLE|_CEPH(G,71|A,118)   total(G,71|A,118)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1583):
AGAAACCTCTGCATAAGACGTTGTAAGGAGGAAAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCAC
Y
TTCTCCAAAATGGATATGTTTCCTCTCACCTGGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTC
Celera SNP ID:            hCV8807769
SNP Position Transcript:  469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1584):
TCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTG
S
TCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGA
Celera SNP ID:            hCV2186446
SNP Position Transcript:  5765
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   POOLE|_CEPH(C,68|G,120)   total(G,120|C,68)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1585):
AACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACG
S
AGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTT
Celera SNP ID:            hCV2186447
SNP Position Transcript:  5726
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None   



Context             (SEQ ID NO:1586):
CACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACC
R
ATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTG
Celera SNP ID:            hCV25636153
SNP Position Transcript:  3316
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:704, None



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT2303052 - 209000073632580
Public Transcript Accession: NM_003872
Celera Protein:              hCP1807717 - 209000073632566
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11218859..11242201)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:8):
AGAGAGGAGCAGAGCATGTTTGGGACATAACAAAGGATCTGAGTACCCAAACACCGTACGCCACCCAACTCCTCTTGTAACGCCATCGCGCGTGGCATTG
TGTTGGGTTCTGCGTGTGTGGCATCGGAGTCGTGGAATTTAGGGGGAACAAGGCTTTTCCCCCCGTCCCCCCGGGGTCTCCCTTGGGTGGGGGCGACACG
GCCAAGGGCGGCGCGCCCTGGGGGTGCCCGGGGGCGCTTCTTCCCCAGGGCGTTACGCACCGGCGGCCCGGCGCGGAGGAGCTACTCTCCTCCTGGTGAG
GTGGAAATTCCAGCAAGAATAGAGGTGAAGACAAGCCACCAGGACTCAGGAGGGAAACGCTGACCATTAGAAACCTCTGCATAAGACGTTGTAAGGAGGA
AAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCACYTTCTCCAAAATGGATATGTTTCCTCTCACCT
GGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCAC
CTCTCCCGGTTACCCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCT
CACTTTGAAATCGAGAAGCACGACTGCAACTTGCTGTCTGCTTGGAAAATTTCACTCACAAGCCGCAGCTTTGCCTGACTCAGTGCAATCCAAGGCCAYC
ATCTCTGGTGAACTTCCCTTGACTCCTCCCTCCAGCCACTTGCAGAAATGCAAATCCTGGGCACCCACAGGCTGTTTGGGGGCCTGTATAGAAGCTGTGG
GCAGAAACCAGAGGCCACTGTGGTACTGCTGGACTCCTGCAGCCAAAGGACAAAAGGGCGAGACTACGGGCCGTCTGGGCAAACAGAGAGAAGCCACTTT
ATTCCCTGTGGAGTGGAGGATGCTAGGATGTTGCTGCTCCRGCAGACAGAGGCCTTTCGCTTGAGTCATCAGCCAACAGACTGAATGTTATGGTTTTAGA
AACCCATACACAAAGTTGAGTGGTTTTTTCCATTTCTAAAATTTAAAATGTATGTATTTTTAAAACACCCACCTGCATGTAATACACAGCTTGTTCAGGA
GTTCTCAAACAGCCCCAGCACCCACCCCATCCCAGAGGCTCAACCAAATAAAACCAAAACCAGGAGGCTGGGTCCTTTTAAGCACTGGTAATTTCTACCT
GTAATTCCAGCCCTTTGGGAGGCCGAGGCAGGCAGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAA
ATACAAAAAAAATTAGCCAAGCTTGGTGGTGCGTGCCTGTAATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGCT
GCAGTGAGCTGAGATTGTGCCACTGCACTCCGGCCTGGGTGAAAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAATTGGTAATTTCTAGATGGG
TACCTTGATGGGTCTCAGAAAGAGCAAAACCCACTAGCAAGAAATGAAAGAACATTTCTTAGGCTAAAATCCTCAAGGAAGTCTACATAAATGATTGTAT
GTGCTATGTTCAGCCCAGCAATRTCTCATATACCACGTATCATTGAAGAATGACATTCCATTTAGGTGAAGTGTCCAGATACTGAAATATCCACCTTTAA
AGTTCTTAAAAGAGAACTTTAAAGAGTTCCAAGAGTTCTTTTTTAAAGGATTTCTGATAAAGAACATTCTAAATCATGTGCTGCACTTCCCTGTCTTTTT
AAAACCTACATTGAGAGGAGTCAACTTTTTCTCAATGATTCAGGCTTTTAATTCTAAGCTTCACTTTTGTGACAGCAGCCAGTATTGCCATAATTGGAAC
AGGCAGATTAAGATTTGAATTTTTATTGACCTTTTAAACTTCCCAGGCCTCAGTTTCCTCATCTGCAAAGCTGTCATAATAATAAATATCTTGCAAGATT
GCTCTGCCTTTTTATGTAGATGCCCAATAAGTTAGCAACTGTGTTAGCATCATTGGACTTTGTCAGGGGACAGTTTGGGACTATTTTCTATCAATCCTCC
TGCTTTCACACATCCTGTTACGAGTATGCCTGTCTCCTGTAGCCTTCCCATTCTGACTTGTTTTTGCTTTTTTATGGGGTTATCAATTTTGCTTCAGGAG
CCCTTGCTGTCTCTTGGGAAGTTTGAGTTCTGGGACCTAAGCTTTGCTCAAGCCAGTGCAATCCCAAGGCCAGCATTTCCAGTTGGCTTCAGCCAGCCAA
GCTTGCAGCAGAGTTAGGACTGGGGAGTGATCCCCAAGTGACAAAGCGTAAGAGCAACAGAGGATGGAGTTCTCAACATCAGTGTAGCTGCTCACAATCT
TTTTTTCTGAACTCCCCCACACCGTTATATTCTGCATATTTAAGGTTTTGGATATTTGCCTCTAAGTGTCCTAGATAAACAAGGTGCTCTTGTGTTTATT
TACAGCCAGAGGGGCCCTCTATATCTTAGAAGATATGTCTGTTTCTCCCAAAGTAAGAGATGATATCTTAGAAAGGTAGCAGTTTCCCAGTTGATAACCT
GATCATAGTAAACAGAGAGATCAGACCAGACCTTAGTCATCTGGCCCCTCCCCATTCAGCCAGCAGTGTTTCCCTGTGCTCAGTAAACACCCTCGATTCC
CTGCAAACAACCAAGCATAGTCTTGCATCTGCATGAGCCCCCTGAGTTCCCAGGGCTCCAGCCCTCCTTTCCCTCCCTCCACAGTGTCCAGCTGCAAGCT
CCCATCTTCCTCCCCTGAGTTTCCTTGCTTCCTGCAGTTCCCTTTTATCACCCTTTCCTCTGAACTCCCAGAGCACTTGATGTTGCCTGAGTCCCTTGCT
TTTTGTTCATATGTGGTCATCTTGAGTTCTCAGCAAGTAAATTCTACAAGGGCACAAAGCATGTACTTCATATCTAAACTCCCATGGCGCCTAGTCTAGG
AGGGTGCTAGGCAGGTGTGTGCAGGTGATTTCGTGATATTTTTTACATTGGAAATGCCAGGCAATAGGTCAGCATGAGCTGAATCTGTGTTGGAAGGCAG
ACAGATCTGTGTTCCCTATTTGTCCCTCTGGGAATATGACATAATCTTAGGGGGTAGGACACAGGCCAAGAATGTCACTAACTGATTTGGGACATGAGTC
TCTCACCAACAAAATGGTAATAGACCATTCATTCATTCATCAGGAAATAGCTATTAAACACCTACTATGTGCTAAGCACGTTGGTATTATTGGGAATACA
GTGATGAATAAATCATATTCTTTTCCCTAAAGTCACTGTTACTCTTTCCATTTTACAGATGAAGAAACTTGGGCTCAAAGAAGTTAAGCAACTGGCCCAA
GGTTCTACTCCCATAAGTGGCAGAGAAGGGTTTTGAAGCCAGATACCCTAGTTTTCAATCTCTGCTTTACTCTTGTGCTGTCTGCCTCCCCGGCATCATG
CATTTGGCAGGGGACATGATATGGACCTGTTACGTGGGCCCACAGCATCCAGGTCCAGCCTAAGCTGGGAAGATCAAGGAAGGCTCCCTGGAGGAGGTGA
CGCCTATACKAATTCTAAAGAATTTGGCCAGGCAGCAGGGAGTGTGTTTGGCTGGTGTCATAGGCAGACAGCAGCATGCCCAAAGACAAGAAGGAGGGAG
GGTTTGATGCCTTCAGGAACCAAAATAATTGAACATGCCTGAACCCAATTTCTTAACCAGTGAGCATTGTAAGGGTAGACTAAAAGGGGCTGTCCTTGTG
ACTTGCTGACACAAACCCTTTTCCCGGTGAAGAGGTGCCTGAGCAATACTATTTAATTGTATTTCCTGGCCAGACAACTTCCACCATCTCCTTAGGAGAC
AGGGTGGTCAGGAAGCAGGAAAGACTAAGATGATGGGGACTCTCTGCTGTCCCCACCTTCCCTGTCCATTGTAGGGTCTCTGCAGCCTCATACCCTATGT
CCAGCGACCTCCCCCACCCCGCCGCCAGTGGAATGCCTGAAAGTGGGGTTTGGCCTGGGAAAGTCCAGGTAACACTTCAGATTAAGCTCCTCTTGTCAAT
TTCCTGCTACACAAGACTTTCTGAATCCAAGTCTCTTTCCTATGAATAGAGGGCGGGAGGCCAGATTGCCCAGTTGGAGGTGTGGCTTCAGCTGGTCTCC
GTTGAAGTCTGAAAAGCCAACAAAGCATAGTGAGAATTCTGTGTGGTTCAAGAGGGTGCCTTGTGCTTGTTGAGGAGAGGCCGTTGGCTTGATCACTCAC
GACACTATTACTGACGTTATTATTTACTGCCTGCCCAACCACAGAAATATTCTGATTCCCCTAAGGAGCCAGTGAGCAGTAATAATTTTCTGTATTGCAA
CAATCCTCCTAATGACAGAAACAGATCCACCTCCAGGTACGTGGTGGACGAATGGGAGCAGCTGGCTGCTGGCCCCACACTTACCAACCTTGACCACAGG
GTCCACCCAGCAACTCCACCTCACCCATGGATCRGGGGGAAAAACAACTCACAGACTGTTCTCCTCTTACCAAGGTTAAAACGCAGCTGGAATTACTTTG
GGCAGTTTGTTTTTAAAAATGAGTGTTGCAATTGTAACTGTCTCAATGCAAGCTTCGCTGTAGATGCCCTTCTTAACAATATGCTTTATCTTCTGACTGA
GAAAATCACTTGAGATGTTATCATGCMCAATCCCACTTGTTCTGCCTCTCCACCCTGGCACCTTCTCCGAACCCAGAGATCCCAGAGGGCCAGCATCTCA
CCCCATGTAACTCCATGTAATTCTCCCATCTAATTACACCGGCTGAGAGTCTGTCTTAAGAAATTCAGTGGGAGCTCCAGGTGTGGAGGGGATAAAGAAG
AGATGGAAATATACCAAGTGAAAACATCAGATTTTTCTAAAAAGGGATTTGTGTATTTTCCTGGAGTCATGAGTCCTATAGAAAAAAATTTATATTCTTT
TTGTTTTGTCCTTTTTACTGGCAAGGGATTTAAGCCTTTGGATTAAGAGAAACTCAAAAGATAATTTAATTCCATTCTTATACTTCTGCCTGGATAAATA
ATTCCAG

Protein Sequence    (SEQ ID NO:705):
MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCNLLSAWKISLTSRSFA


SNP Information

Context             (SEQ ID NO:1587):
AGCAAAACCCACTAGCAAGAAATGAAAGAACATTTCTTAGGCTAAAATCCTCAAGGAAGTCTACATAAATGATTGTATGTGCTATGTTCAGCCCAGCAAT
R
TCTCATATACCACGTATCATTGAAGAATGACATTCCATTTAGGTGAAGTGTCCAGATACTGAAATATCCACCTTTAAAGTTCTTAAAAGAGAACTTTAAA
Celera SNP ID:            hCV8807797
SNP Position Transcript:  1723
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;SG_12_A(A,3|G,14)   SG_12_AA(A,4|G,19)   total(G,33|A,7)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1588):
TGCAATTGTAACTGTCTCAATGCAAGCTTCGCTGTAGATGCCCTTCTTAACAATATGCTTTATCTTCTGACTGAGAAAATCACTTGAGATGTTATCATGC
M
CAATCCCACTTGTTCTGCCTCTCCACCCTGGCACCTTCTCCGAACCCAGAGATCCCAGAGGGCCAGCATCTCACCCCATGTAACTCCATGTAATTCTCCC
Celera SNP ID:            hCV29134868
SNP Position Transcript:  4827
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1589):
GGGGACATGATATGGACCTGTTACGTGGGCCCACAGCATCCAGGTCCAGCCTAAGCTGGGAAGATCAAGGAAGGCTCCCTGGAGGAGGTGACGCCTATAC
K
AATTCTAAAGAATTTGGCCAGGCAGCAGGGAGTGTGTTTGGCTGGTGTCATAGGCAGACAGCAGCATGCCCAAAGACAAGAAGGAGGGAGGGTTTGATGC
Celera SNP ID:            hCV8807798
SNP Position Transcript:  3710
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1590):
AGAAACCTCTGCATAAGACGTTGTAAGGAGGAAAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCAC
Y
TTCTCCAAAATGGATATGTTTCCTCTCACCTGGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTC
Celera SNP ID:            hCV8807769
SNP Position Transcript:  469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1591):
CAGGTACGTGGTGGACGAATGGGAGCAGCTGGCTGCTGGCCCCACACTTACCAACCTTGACCACAGGGTCCACCCAGCAACTCCACCTCACCCATGGATC
R
GGGGGAAAAACAACTCACAGACTGTTCTCCTCTTACCAAGGTTAAAACGCAGCTGGAATTACTTTGGGCAGTTTGTTTTTAAAAATGAGTGTTGCAATTG
Celera SNP ID:            hCV8807802
SNP Position Transcript:  4634
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1592):
AGCCAAAGGACAAAAGGGCGAGACTACGGGCCGTCTGGGCAAACAGAGAGAAGCCACTTTATTCCCTGTGGAGTGGAGGATGCTAGGATGTTGCTGCTCC
R
GCAGACAGAGGCCTTTCGCTTGAGTCATCAGCCAACAGACTGAATGTTATGGTTTTAGAAACCCATACACAAAGTTGAGTGGTTTTTTCCATTTCTAAAA
Celera SNP ID:            hCV8807796
SNP Position Transcript:  1041
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIC-allele(G,267|A,1010)   total(G,267|A,1010)no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Context             (SEQ ID NO:1593):
CTCACTTTGAAATCGAGAAGCACGACTGCAACTTGCTGTCTGCTTGGAAAATTTCACTCACAAGCCGCAGCTTTGCCTGACTCAGTGCAATCCAAGGCCA
Y
CATCTCTGGTGAACTTCCCTTGACTCCTCCCTCCAGCCACTTGCAGAAATGCAAATCCTGGGCACCCACAGGCTGTTTGGGGGCCTGTATAGAAGCTGTG
Celera SNP ID:            hCV27479216
SNP Position Transcript:  799
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,181|C,1318)   total(C,1318|T,181) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:705, None   



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT1967277 - 209000073632477
Public Transcript Accession: NM_003872
Celera Protein:              hCP1781621 - 209000073632538
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11218859..11335153)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:9):
AGAGAGGAGCAGAGCATGTTTGGGACATAACAAAGGATCTGAGTACCCAAACACCGTACGCCACCCAACTCCTCTTGTAACGCCATCGCGCGTGGCATTG
TGTTGGGTTCTGCGTGTGTGGCATCGGAGTCGTGGAATTTAGGGGGAACAAGGCTTTTCCCCCCGTCCCCCCGGGGTCTCCCTTGGGTGGGGGCGACACG
GCCAAGGGCGGCGCGCCCTGGGGGTGCCCGGGGGCGCTTCTTCCCCAGGGCGTTACGCACCGGCGGCCCGGCGCGGAGGAGCTACTCTCCTCCTGGTGAG
GTGGAAATTCCAGCAAGAATAGAGGTGAAGACAAGCCACCAGGACTCAGGAGGGAAACGCTGACCATTAGAAACCTCTGCATAAGACGTTGTAAGGAGGA
AAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCACYTTCTCCAAAATGGATATGTTTCCTCTCACCT
GGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCAC
CTCTCCCGGTTACCCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCT
CACTTTGAAATCGAGAAGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACA
TCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGAT
CTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGAC
TGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACT
GCAAGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATC
GACRGGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAAC
TTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAAC
AAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGC
CATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTG
TACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTA
GAATCCGCCCTCAGACCTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCT
CTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGG
TTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCG
GAGGAGACAGTATCACTGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCC
CAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATAC
CCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGACTCCAAGCCCACGGTAGAGACGCTGGGACCCACTG
TGAAGAGCGAAGAGACAACCACCCCCTACCCCACCGAAGAGGAGGCCACAGAGTGTGGGGAGAACTGCAGCTTTGAGGATGACAAAGATTTGCAGCTCCC
TTCGGGATTCAATTGCAACTTCGATTTCCTCGAGGAGCCCTGTGGTTGGATGTATGACCATGCCAAGTGGCTCCGGACCACCTGGGCCAGCAGCTCCAGC
CCAAACGACCGGACGTTTCCAGATGACAGGAATTTCTTGCGGCTGCAGAGTGACAGCCAGAGAGAGGGCCAGTATGCCCGGCTCATCAGCCCCCCTGTCC
ACCTGCCCCGAAGCCCGGTGTGCATGGAGTTCCAGTACCAGGCCACGGGCGGCCGCGGGGTGGCGCTGCAGGTGGTGCGGGAAGCCAGCCAGGAGAGCAA
GTTGCTGTGGGTCATCCGTGAGGACCAGGGCGGCGAGTGGAAGCACGGGCGGATCATCCTGCCCAGCTACGACATGGAGTACCAGATTGTGTTCGAGGGA
GTGATAGGGAAAGGACGTTCCGGAGAGATTGCCATTGATGACATTCGGATAAGCACTGATGTCCCACTGGAGAACTGCATGGAACCCATCTCGGCTTTTG
CAGTGGACATCCCAGAAATACATGAGAGAGAAGGATATGAAGATGAAATTGATGATGAATACGAGGTGGACTGGAGCAATTCTTCTTCTGCAACCTCAGG
GTCTGGCGCCCCCTCGACCGACAAAGAAAAGAGCTGGCTGTACACCCTGGATCCCATCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTG
GGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGYTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCT
AYGATGGCCTTAAGCACAAGGTCAAGATGAACCACCARAAGTGCTGCTCCGAGGCATGACRGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAA
GAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACCRATCCAGAATACCGAAGGTATGGACAGGACAGAA
AAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTC
TGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTGWATTATTATTATTATTATTATTATTATTATTATATTTT
ATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAAGTGGAGCAGTGATCATTATTCTCCGCTTTCTCTTTCT
AATCAACACTTGAAAAGCAAAGTGTCTTTTCAGCCTTTCCATCTTTACAAATAAAACTCAAAAAAGCCGTCCAGCTTATCCCATCCTCTGATTGTCTTCT
GACTTAAGGGATTTACTGTGGTGTAGGTTCTGCCAGCCAACCCTACAAGCTGCCATTTCCAGTCCTAGCATTTAAGTAGGATGTTGTTGCCTTTAACTTT
TCTTATCCAGGGGAAAATTGCCATTTTAGGGTCAGCATGAACAGCTCTTTCTTGTATGCGATTTAAAACAAACTGGAAAGGAAACTTCACACGTCAAAAT
CCATAGAAGCGCCTGGACGAGGCTTAAAGTGCTTTGTGAGTGAATAGGAGCCATTCGCTAATTCTAGACCCACAGTGTCTGGTGGTGGGGCTTCCCTTGT
GGGGCTTCTGGTGGTGGTTTTGCCTTTTCTTTTCCCTCCTCCATGTTCTTCTAAAACATATACATATATACATACACACATACACATATTCTTCAGGTCT
CTAAGCCCCTGGAAGCAGCATTGTGTGATATTCTCAGAGGCAGGGGAAAATAGAGGGAAAAATAGAGACTATTGGTATGTTCTCCCCATCAGCGAGTTAT
TGTAACTGGTCACCACTGGACGGGAAGGAGAACAGAGGAGAGGGAAAGAGAAGCCCAACCTCTGTGATCATATGAGGGCCAAGGCTGAGCAGTGTAGACA
GAGACCCTTTGAAATGCATTTGTCTCTCAAATAGACTAGTAAACACCGACTTCTCCTTTGGGTTACAAACACCATTTCAACCTTTCGGGAGAGTCAGAGC
TAGGATGTACAAGAACTGATTCTAACCAGAAGTCCGCAAGTACTGTGGACAAGAATGCTTAACCATGCTGCTTCAGCCTTGAGAGACCTAGGTTCTTACA
CATATGCACACACGCATACACACATGCACGCACACACACATACACACATGCACGCACGCACGCATGCACACCAATTTATGTTTTTATTAAGTGCCTTGAA
AAAATGAAGAAAAATGTATTTTCCCTTTATGTAAAAATTAGTGAATATCTTATGAATTAAGGCATTCCTCTTTCCCTAACCCCGATGGCTCCATTCCCAA
GTACCCCAACTCACTGCTGATCCTATTAAAGGAATGAGTCCTGCTACCCGAGTGGTAGTCATAGCCCTAGATGACTCTCAACTACTCTTCAAAGGGAGGC
ATCAGGAATAGAATGAAACTGTGTGAAGGATAAGATTGTTCGCATCAAGATCCAAATCTTGATTTCATATTAACGCCTAAGGATTGCCTGTGTGCTGGAA
ATATATTTGAAACTCAACCAGTATGCCCAGCCTATTGCATATCATTGTCAGACCATTTTTGCTGCTGTGGTCACCCACGATTTCATTTGTCTTATACCCA
GGTGAAAGGGGAAGGGTGAATGGGACTGGCTGGTTCCTTTAAATGTTAACTTATGGAAATGCTAGTTCAAATGGTAATGTCACAGTGTTTTGTATGCAGA
GAGCAAGAGTTCAACCAACAGCTGTTTATTCATGTGTGTGTGTCTTTGCTGCTTTGAGTTCTCTGTATCTACTGTGTATGTGAATGGTCATGTGGGACTC
AGTGGTGGTGTTGTGACTTTGACCTAGGGTCCGAGTGTCACAGCTGATCTTGGCACTCGGCACTCATTGGCACAGTGGTAGTTAGAGGTGAAAAGTAGAG
CTGTCAAGCCCAAGGGCTTAGCTTTAGGGCTCCTCCTGAGTTCGGCCCACAGTAGAAGCAAGATTTTAACTAGCCCCTTTTCCTCTTCACCCTCCCATGA
TGCGCAGTGTTCAGAAAGCTGGTAAGTCCTAGGGATTTCCAGAAGTAGCCTGCAGAAGAAGGTAAGTTTGAAAGCCACTCCAGGGGTCCTGATGCTGTCA
TGCTCAGTGAGCCATTTTACAGTTCTCCAAAGTCTAGCCCTGTTTCGGACCTGCACTTCACCTCTAAGTTATGTACAACTCAACCTGCATCCCTCTAAAA
GTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGSAGGGCTACATGTAGATACCACAC
CAAGGCTGGAGGCTGSTCTGTCRTAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTG
TGGGTAGGCTAGCTGACCCATCTCCTTGAGTCATTCCCTTTGGGAAACCCCACTGCCAGTATTGATCTCCTTTTTGCCTTGTACTGAATGACACATTACC
TCCACACTCTCCCGGACTAGGTGGTCAACAGGGCCACAGGGTTGCTTTCTGTCTTTGGTGGGGCAGGGGAGTTGACAGGGATGAGGGTCCAAGGAATAAG
CATGAATGACAAGAAAACAAGGGAAAGAGTTAACCTGTCACATAGCAGGTTAACTTTTTCAGGGTTTGCAGTTAGAGGTATTCGACCATTCACTGGCTGA
GCCAGATCACGGGAACTTGAGAGCTTTTACTGTGATTCTTCAATGTAAAAAATAAACAACAATGTCAAACTGTGTTTATATGATTTGTATAAAGCCTTTT
TAAGATTACTATTTAAATAAACATTATACCAGAGAT

Protein Sequence    (SEQ ID NO:706):
MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL
LGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP
LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS
DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA
PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG
VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT
VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYA
RLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENC
MEPISAFAVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTL
ENYNFELYDGLKHKVKMNHQKCCSEA


SNP Information

Context             (SEQ ID NO:1594):
TCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAG
Y
TCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCAT
Celera SNP ID:            hCV25636146
SNP Position Transcript:  3157
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 893, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 893, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:1595):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 128, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1596):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:706, 158, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1597):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1882
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 468, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 468, (V,GTC)   (V,GTT)      468, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1598):
CGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTG
W
ATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAA
Celera SNP ID:            hCV11722403
SNP Position Transcript:  3563
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|T,3|-,8)   total(A,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1599):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  1204
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 242, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1600):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 290, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1601):
CGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGAC
R
GATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATC
Celera SNP ID:            hCV29134890
SNP Position Transcript:  3261
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1602):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1549
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:706, 357, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:706, 357, (Y,TAC)   (Y,TAT)      357, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1603):
AAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  2152
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 558, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 558, (P,CCG)   (P,CCT)      558, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:1604):
GGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTA
Y
GATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGA
Celera SNP ID:            hCV29134888
SNP Position Transcript:  3202
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 908, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1605):
GTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCA
R
AAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGA
Celera SNP ID:            hCV29134889
SNP Position Transcript:  3238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:706, 920, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1606):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  846
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:706, 123, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:706, 123, (K,AAG)   (R,AGG)      123, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1607):
TGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTC
R
TAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGACCCATCT
Celera SNP ID:            hCV2186445
SNP Position Transcript:  5823
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;POOLE|_CEPH(G,71|A,118)   total(G,71|A,118)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1608):
AGAAACCTCTGCATAAGACGTTGTAAGGAGGAAAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCAC
Y
TTCTCCAAAATGGATATGTTTCCTCTCACCTGGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTC
Celera SNP ID:            hCV8807769
SNP Position Transcript:  469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1609):
TCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTG
S
TCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGA
Celera SNP ID:            hCV2186446
SNP Position Transcript:  5816
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   POOLE|_CEPH(C,68|G,120)   total(G,120|C,68)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1610):
AACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACG
S
AGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTT
Celera SNP ID:            hCV2186447
SNP Position Transcript:  5777
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None   



Context             (SEQ ID NO:1611):
CACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACC
R
ATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTG
Celera SNP ID:            hCV25636153
SNP Position Transcript:  3367
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:706, None



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT2303056 - 209000073632511
Public Transcript Accession: NM_003872
Celera Protein:              hCP1807719 - 209000073632564
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11218859..11283286)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:10):
AGAGAGGAGCAGAGCATGTTTGGGACATAACAAAGGATCTGAGTACCCAAACACCGTACGCCACCCAACTCCTCTTGTAACGCCATCGCGCGTGGCATTG
TGTTGGGTTCTGCGTGTGTGGCATCGGAGTCGTGGAATTTAGGGGGAACAAGGCTTTTCCCCCCGTCCCCCCGGGGTCTCCCTTGGGTGGGGGCGACACG
GCCAAGGGCGGCGCGCCCTGGGGGTGCCCGGGGGCGCTTCTTCCCCAGGGCGTTACGCACCGGCGGCCCGGCGCGGAGGAGCTACTCTCCTCCTGGTGAG
GTGGAAATTCCAGCAAGAATAGAGGTGAAGACAAGCCACCAGGACTCAGGAGGGAAACGCTGACCATTAGAAACCTCTGCATAAGACGTTGTAAGGAGGA
AAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCACYTTCTCCAAAATGGATATGTTTCCTCTCACCT
GGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCAC
CTCTCCCGGTTACCCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCT
CACTTTGAAATCGAGAAGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACA
TCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGAT
CTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGAC
TGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACT
GCAAGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATC
GACRGGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAAC
TTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAAC
AAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGC
CATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTG
TACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTA
GAATCCGCCCTCAGACCTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCT
CTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGG
TTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCG
GAGGAGACAGTATCACTGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCC
CAGGACCCAGCAGCCAAAGGTAGGCTGTTCTTGGAGGCCTCTGTAACGTTACCCTCAACAGGGAGGCTAAGTGTGGTACAGGGAGTTGAGACTGATGATG
TCCCATCTAAACAGTCGTCATCCAACTCCTGAAATCCAATAAAACAAATATCGTTTGAGAGATTACTTTGTGCCAGGCACTGTGCTAAATACCTTATTTC
TGACTCTTTTKTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGTTCTCGGCTCACTGCAACCTCCGCCT
CCAGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTGGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAATTTTTGTATTTCTGGTAGAGATG
GGGTTTCACCGTATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCTCAAAGTGCTGGGATTATAGGCATGAACCACC
GCGCCCGGCCTGGACTCTTTTTTAATCGTTACAACATCTGTGCAAAGTAGATCTTTTTGTCACTCCCATTTYAGAGATGATAAACTGACACTTGATATCA
TGCCCAGGGTCACACAGTTCACCTGTGATAGAGCCGATTCAGAAACCGGAAGTCTGACTCCAAAGTCCAGATGCCTAACCCCTACTGAACACTGCCTTTT
TATAAAGTTCAACACTCTTTATACACTCTTTCAGATAAAGTTTCCTTGAAATTGGCCAGACATCTAAAGGGGATGTGGTTTTTGGAGGCCAAGCTATAGA
AACTAGAGGATGACTTCCAAAAATAACGATGTTTTTCTGAATGTCGCTGCATTCCTTTGTATTCTCCTAGTTTTGACTGCTTAGATCTTTCCGGCCTCTC
AGACTGAGGCAAGGGAGAAGCAAGAGAAACTCACCCCGAGCCAGAAGCTCAGGCCAGTACAGCTTACTCCCCTGCCACCAGAGTGAAGGTCAGCCTTCAA
CACAGAYACAAGGAGCCCCAGAAGGGGAGGAGAYGTCATACCTCTGTCCCTCCCCAGATCAGTCTCCTGGCAGGCCAGGCTCTCTGATTCTTATCTCTAG
TTACCCCTTGTTTTTCTCAAAAGAACAGGTCCCTAAAAAAGGAGGGAGTTTGCATGTCTCGGGGCCACCTTTGCTAAGCAAATGTCTCCATTCTGAATAC
AGAGGCAAGAGTTGGGTTGGAGGTTTTGCGATGCTGAGGTAAACTCCCAGCTCTCAACTCCAGAGGCTTAGAAAGGCTCAGGGCTTGGTAACTGGAACCT
TGCATCGATGGAGCAGAAGTTGGACCGCAGGCTTCCCCATGGAGAGCTGAGCCTGGTTTTTCTTGGGAAAGAAGTTGATCTTTGCCATTGTGGGAGACAG
CCCTATCCGAGACAGTGCTTCTGGTTCAGAATTGTGGACGCAGGGCATCCTGAAAACTGGAGCGGTCCTGCTGAATTTCTGGGGGCTAATCAGCTGCAGG
CCCTGGCCACCCACTCCTGTCCTTCCCCCGGATGAGTGTCTCCAAGTGTACTCTAGGCTGGTCCTCCAAAGCAGCCCCCTGCTCCCCGCATCATCAGTTT
TATGTACTGGGGCTCCRTGTGAGGTTTCTTTTGACAGGAGTGCTTTCCCTAAACAAAGGTTTGGGAAACAGTCTAAGACTATCGATGTGTGACCAGAAGA
CAGTGTCATTGGCCTAGGGGTCATTTTCCCRTAAGGTTCTCAGTGAGCTAGGAACTATCAGTCAGCTTGGGTTACCTCAATGGAGGCTTTCACRCATTAG
AAAAAGAAGTGTYCCTTTCCCTGTAGACCAGGAATTCAGAACGGTCAAAGATCGCCCAAACTGCCTTCCCCSCTCTCTAGCCAAAGTCAGCTGAAAACGC
AGTTGGAGCCAAATTCTTCCCCAGATACTCCATTTTAGTCACCAGGTAAAAGACACAACCTGGAAATTGCCACCTTTGTTTACTTCCTATTTTCCATAAT
TCTGGGTCCATAACCACCTTCCAAATGAATAAAATCCTTGGTCTGAAAATGAAGCTCGCGTGGATCAGAATGTCCCAGTGACCAGGAATCAACTAGGAAG
CTGCCTTCCTAGCAGGACGTGCGGGGCAGGGAGGAGAAGGGGAAGGAAAGGGAAGAAGGTGATAGGGACTGGGTCCCACACCAGAAGGGCTGAGTGGCCT
CTCTCCCTGCAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGA
GGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGGTAAGATGACATTTCCTCCTCTTTGCATCTCACCCACATGGTC
CTCTGACCCTGGCATCCCAYGAGGCCCTGGGAGGGCTGTGGAGGGGGCAGCCATCCCAGGAGCTGGAAATGCTGCAGACCCCTGCCATGTTCTCCTGCCT
CAGACCACGGGTACTGCAGCCTCTGGACTTGGGACAGTTTCTCAAGGGATGTACTTTGTCTTTTTTAAGGGATCATTTCAGTTCTCCAACCCGAGTCTCT
CAAAAACAAATCATAACCACACACCACCCACCCAAATTCAATTAGACCCTGGCTCTTCAGGCCAGAGGGCTGTGGCTGTTGATTTAGGGAAGAAAAAAAC
CCCTCATGATAATAAAGTAATCGGTTTATGTCTG

Protein Sequence    (SEQ ID NO:707):
MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL
LGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP
LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS
DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA
PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG
VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKVGCSWRPL


SNP Information

Context             (SEQ ID NO:1612):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:707, 128, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1613):
TTACCTCAATGGAGGCTTTCACACATTAGAAAAAGAAGTGTCCCTTTCCCTGTAGACCAGGAATTCAGAACGGTCAAAGATCGCCCAAACTGCCTTCCCC
S
CTCTCTAGCCAAAGTCAGCTGAAAACGCAGTTGGAGCCAAATTCTTCCCCAGATACTCCATTTTAGTCACCAGGTAAAAGACACAACCTGGAAATTGCCA
Celera SNP ID:            hCV2186492
SNP Position Transcript:  3972
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,12)      total(G,1|C,12) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1614):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:707, 158, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1615):
CCTAGGGGTCATTTTCCCGTAAGGTTCTCAGTGAGCTAGGAACTATCAGTCAGCTTGGGTTACCTCAATGGAGGCTTTCACACATTAGAAAAAGAAGTGT
Y
CCTTTCCCTGTAGACCAGGAATTCAGAACGGTCAAAGATCGCCCAAACTGCCTTCCCCCCTCTCTAGCCAAAGTCAGCTGAAAACGCAGTTGGAGCCAAA
Celera SNP ID:            hCV2186493
SNP Position Transcript:  3913
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,5|C,6)      total(C,6|T,5) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1616):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1882
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:707, 468, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:707, 468, (V,GTC)   (V,GTT)      468, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1617):
CAGAAGACAGTGTCATTGGCCTAGGGGTCATTTTCCCGTAAGGTTCTCAGTGAGCTAGGAACTATCAGTCAGCTTGGGTTACCTCAATGGAGGCTTTCAC
R
CATTAGAAAAAGAAGTGTCCCTTTCCCTGTAGACCAGGAATTCAGAACGGTCAAAGATCGCCCAAACTGCCTTCCCCCCTCTCTAGCCAAAGTCAGCTGA
Celera SNP ID:            hCV2186494
SNP Position Transcript:  3894
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1618):
TTGACAGGAGTGCTTTCCCTAAACAAAGGTTTGGGAAACAGTCTAAGACTATCGATGTGTGACCAGAAGACAGTGTCATTGGCCTAGGGGTCATTTTCCC
R
TAAGGTTCTCAGTGAGCTAGGAACTATCAGTCAGCTTGGGTTACCTCAATGGAGGCTTTCACACATTAGAAAAAGAAGTGTCCCTTTCCCTGTAGACCAG
Celera SNP ID:            hCV2186495
SNP Position Transcript:  3831
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,10)      total(G,10|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1619):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  1204
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:707, 242, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1620):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:707, 290, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1621):
AAGTGCTGGGATTATAGGCATGAACCACCGCGCCCGGCCTGGACTCTTTTTTAATCGTTACAACATCTGTGCAAAGTAGATCTTTTTGTCACTCCCATTT
Y
AGAGATGATAAACTGACACTTGATATCATGCCCAGGGTCACACAGTTCACCTGTGATAGAGCCGATTCAGAAACCGGAAGTCTGACTCCAAAGTCCAGAT
Celera SNP ID:            hCV3266961
SNP Position Transcript:  2672
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1622):
CCCCGAGCCAGAAGCTCAGGCCAGTACAGCTTACTCCCCTGCCACCAGAGTGAAGGTCAGCCTTCAACACAGACACAAGGAGCCCCAGAAGGGGAGGAGA
Y
GTCATACCTCTGTCCCTCCCCAGATCAGTCTCCTGGCAGGCCAGGCTCTCTGATTCTTATCTCTAGTTACCCCTTGTTTTTCTCAAAAGAACAGGTCCCT
Celera SNP ID:            hCV29134882
SNP Position Transcript:  3134
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1623):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1549
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:707, 357, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:707, 357, (Y,TAC)   (Y,TAT)      357, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1624):
AGGCAAGGGAGAAGCAAGAGAAACTCACCCCGAGCCAGAAGCTCAGGCCAGTACAGCTTACTCCCCTGCCACCAGAGTGAAGGTCAGCCTTCAACACAGA
Y
ACAAGGAGCCCCAGAAGGGGAGGAGACGTCATACCTCTGTCCCTCCCCAGATCAGTCTCCTGGCAGGCCAGGCTCTCTGATTCTTATCTCTAGTTACCCC
Celera SNP ID:            hCV8807905
SNP Position Transcript:  3107
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   JBIC-allele(T,566|C,921)   total(C,921|T,566) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1625):
CTGTCCTTCCCCCGGATGAGTGTCTCCAAGTGTACTCTAGGCTGGTCCTCCAAAGCAGCCCCCTGCTCCCCGCATCATCAGTTTTATGTACTGGGGCTCC
R
TGTGAGGTTTCTTTTGACAGGAGTGCTTTCCCTAAACAAAGGTTTGGGAAACAGTCTAAGACTATCGATGTGTGACCAGAAGACAGTGTCATTGGCCTAG
Celera SNP ID:            hCV8807906
SNP Position Transcript:  3717
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1626):
GGAAAGGGAAGAAGGTGATAGGGACTGGGTCCCACACCAGAAGGGCTGAGTGGCCTCTCTCCCTGCAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  4345
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1627):
ACAGTCGTCATCCAACTCCTGAAATCCAATAAAACAAATATCGTTTGAGAGATTACTTTGTGCCAGGCACTGTGCTAAATACCTTATTTCTGACTCTTTT
K
TTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGTTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAA
Celera SNP ID:            hCV26480029
SNP Position Transcript:  2311
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,1|-,8)   total(G,1|-,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1628):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  846
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:707, 123, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:707, 123, (K,AAG)   (R,AGG)      123, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1629):
AGAAACCTCTGCATAAGACGTTGTAAGGAGGAAAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCAC
Y
TTCTCCAAAATGGATATGTTTCCTCTCACCTGGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTC
Celera SNP ID:            hCV8807769
SNP Position Transcript:  469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:707, None   



Context             (SEQ ID NO:1630):
TGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGGTAAGATGACATTTCCTCCTCTTTGCATCTCACCCACATGGTCCTCTGACCCTGGCATCCCA
Y
GAGGCCCTGGGAGGGCTGTGGAGGGGGCAGCCATCCCAGGAGCTGGAAATGCTGCAGACCCCTGCCATGTTCTCCTGCCTCAGACCACGGGTACTGCAGC
Celera SNP ID:            hCV25636137
SNP Position Transcript:  4520
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,24|T,2)   total(C,56|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:707, None



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT1967278 - 209000073632575
Public Transcript Accession: NM_003872
Celera Protein:              hCP1781632 - 209000073632562
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11218859..11316731)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:11):
AGAGAGGAGCAGAGCATGTTTGGGACATAACAAAGGATCTGAGTACCCAAACACCGTACGCCACCCAACTCCTCTTGTAACGCCATCGCGCGTGGCATTG
TGTTGGGTTCTGCGTGTGTGGCATCGGAGTCGTGGAATTTAGGGGGAACAAGGCTTTTCCCCCCGTCCCCCCGGGGTCTCCCTTGGGTGGGGGCGACACG
GCCAAGGGCGGCGCGCCCTGGGGGTGCCCGGGGGCGCTTCTTCCCCAGGGCGTTACGCACCGGCGGCCCGGCGCGGAGGAGCTACTCTCCTCCTGGTGAG
GTGGAAATTCCAGCAAGAATAGAGGTGAAGACAAGCCACCAGGACTCAGGAGGGAAACGCTGACCATTAGAAACCTCTGCATAAGACGTTGTAAGGAGGA
AAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCACYTTCTCCAAAATGGATATGTTTCCTCTCACCT
GGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCAC
CTCTCCCGGTTACCCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCT
CACTTTGAAATCGAGAAGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACA
TCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGAT
CTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGAC
TGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACT
GCAAGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATC
GACRGGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAAC
TTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAAC
AAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGC
CATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTG
TACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTA
GAATCCGCCCTCAGACCTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCT
CTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGG
TTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCG
GAGGAGACAGTATCACTGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCC
CAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATAC
CCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGACTCCAAGCCCACGGTAGAGACGCTGGGACCCACTG
TGAAGAGCGAAGAGACAACCACCCCCTACCCCACCGAAGAGGAGGCCACAGAGTGTGGGGAGAACTGCAGCTTTGAGGATGACAAAGATTTGCAGCTCCC
TTCGGGATTCAATTGCAACTTCGATTTCCTCGAGGAGCCCTGTGGTTGGATGTATGACCATGCCAAGTGGCTCCGGACCACCTGGGCCAGCAGCTCCAGC
CCAAACGACCGGACGTTTCCAGATGACAGGAATTTCTTGCGGCTGCAGAGTGACAGCCAGAGAGAGGGCCAGTATGCCCGGCTCATCAGCCCCCCTGTCC
ACCTGCCCCGAAGCCCGGTGTGCATGGAGTTCCAGTACCAGGCCACGGGCGGCCGCGGGGTGGCGCTGCAGGTGGTGCGGGAAGCCAGCCAGGAGAGCAA
GTTGCTGTGGGTCATCCGTGAGGACCAGGGCGGCGAGTGGAAGCACGGGCGGATCATCCTGCCCAGCTACGACATGGAGTACCAGATTGTGTTCGAGGGA
GTGATAGGGAAAGGACGTTCCGGAGAGATTGCCATTGATGACATTCGGATAAGCACTGATGTCCCACTGGAGAACTGCATGGAACCCATCTCGGCTTTTG
CAGGGGGCACCCTCCTGCCAGGGACCGAGCCCACAGTGGACACGGTGCCCATGCAGCCCATCCCAGCCTACTGGTATTACGTAATGGCCGCCGGGGGCGC
CGTGCTGGTGCTGGTCTCCGTCGCGCTGGCCCTGGTGCTCCACTACCACCGGTTCCGCTATGCGGCCAAGAAGACCGATCACTCCATCACCTACAAAACC
TCCCACTACACCAACGGGGCCCCTCTGGCGGTGGAGCCCACCCTAACCATTAAGCTAGAGCAAGACCGTGGCTCGCACTGCTGAGGGCCGAAGCAAGAAC
AGCACCCAAAACAAACGAGAAAGACTGCAAACATGTTGCCTCGATTTTGCACTTTTTTCTCCTCGCCTAGTTTCTGTGTGAACTCTCAGACATCTCTTTC
CCGGATCCCCAACCCTGAGCACTCTTATCAATCCCAACCATCCTCCTTGGGTTCATTTTGGTTTCTGGKTTTTCTTTTTCCTTTTTGTTGATTCCAAACC
AACAAACCCAACTCTAATGCTGCATCTTGGACTATCCGAAGAGATCCACCCCCAAGCACTCCACAACTCAAGGCTCAGCTGGTTTTGTTCCAGAGACTGG
TTCGCTTGTTTTTTCCCCTTGCCTTATCCCATACCTCCTCTCAGTGGGCAGTCTGCCAGGAGACGTGAGGGGAAGCCTGGATCTGTGTGTATGTACATAG
TAGACATGTGTGTGTGTGAATAGCTCTCTGTGTGTGGGTGTGTGAGAGAGCGGCTGGTTCATTGTGTGTGTGTTTGGGCGAGGGGTGAGTGTTCAGAGAG
GGCCCCTTTAACTCTTATGTTACTTCTCCTGGGGTACATTTTACAAGAAAATAATATACTGTACAAGTTTTGTTTACTTGGAGAAGAGATTGAAGCTTTT
TGTTGCCTTATCTAGCTCTGGCTGGGTTTCTGTTGGCTGTCATTGTCATCTCCAGGTACCTAAAGAAATAGAGGCCACATGGGATGCAGTGTGGCTTCTC
CCATCCCTATCCCCAACYCACCTGACCCAAGAGAAGGTTCCCCTAGCACACTCAAACAAGACCCCCTTGTCTTCTGGTGTCTTTGAAATGTCAAGATAAC
AGCCACTGGGTGTCTGCGGAACCACCTCTCCAGCCCTAAAGCAAATCTGTCTCATGTTGCCTTATAAAAGAGAAGCTCATAATGAATGTTTAGCCTTTAT
CAGTTACATCCAATCTTGGAATAAGTCATAGAGAATAACAAGTCTGGGACTGAYGTAGGAAAAACAGTAGTCTGTTTAAGTTGAGAGGAGGAGGAGGTGG
ACGAGAGAAGGGAGGAGAGGGAAGAACTGAAATGTCTCCTCACCCAGGGTGGTTATTGGGCCCAACTTGGRATGGGGTTGAGTACGAAGGTTAAAAAACA
TATACTTTGGTATTATATTGGTCATTGTAATAGCAGTTGTAAAATATGGGGGGAAAAGGGATCATTTGCTTTCCTTTCATGGTGTTAATGTGTGCCTGAA
TCTATAGCCGCTAAAATGTAAGGCTGTCCACCTGACTTATTTAAATATTATCAGAGAATAGAAAGTAATCACTTTTTAAGTGTACCTATGTGCTGCCCCT
TAAAACATTCATGGCATCTGGCAAATAGACCCTTGTAGGCTGGCCTGGCATATTCAGATGTTGCCGCATCATCACAGAGAAGGTCAAATGAAGATGTAAC
CATTGCTGCTCATGTGTCTTCTCTAAGCAACAAGGGGAGCGGGATGTAAGAGAGAAGTTGCTAATGATACTGTACAAAGGATGGATTAAATAATGAAGTC
AATTTCATTGATAGAAAATGCAAATTTTAAGATTCTCAGTGTATGAGGTCTCAGCCTCGGGAGCATTTATTTTTTACTTTCCTGCTAAAAATCCACTGGG
GAGGTATAAAATTCACTCCAAAGAAGTTTGCCTGGGCCAAAAGCCTCCAGGTTCCTTCTGAGAACAAAATACTAATGATTTTTTTTTTTTTTTTGGCTGC
TTGGGASAGACTTTCAGCATTCTTTCACGATATCCAGATATGTCCCTTCAGCACACACACTCAACTTTCTCATCTGGTTCGTTTCATCCTCCCGAAAGAA
YGGTGCTCTCCCACTCTTACTCTATTTCAAAGAGCTACTCTGTCTCAACCACAGCAGCCCTGCCAAGAAAAGGCAAGATGAAAGGCTAGAGCATGTGCTA
CCTTGAGATTTCAAGAAGTGTCCTACCTCAGCTGARGATGGAGAAACGGGGAGTGGAGAGGGGATCAGCCCAGGGTACCATGTGATGACTAATATGCCAC
TCATTAAGGGCTTTTACCTCGGCTGTCCACATCCAGTCATGCATTTGGGGCCAGGCATGCCTGCGAAATGATTGACATTCCTGTAGGTGCCCCATAGAGG
TGTGGCATTGAGAAATTATGTCTGGAAAATACAGCCAGTGTAGTGACCAGCTGAGTTACCATATASCCTGATGATTCCCCTTCTGTAACAGAAGGTGACA
ACAACTTTGTGAACTTTCTATATCTTTATCTGATGCCCCAAGTGGCATCWTCTTTATGTACATGCCTTAGTTGAGAATATGAGACTGCTCTAATCTTTGT
GAATGCCTTCACACTTCAGCTGAGGATGTCACCTTCTCTGTCACTCCCCATCCTGCAACCTCTGCCTTTGCTCTGTCTACCCCAGCAATTTTCATAGTGT
TATCCAGGTACTGTGCTAAAAGGTCAGCTCTTCTGTAAAATGCCATGCTTCGCAGCTTCAAAAAGCAAAATTCTGTATTTCATGGAGGGAGGGAAGGGTC
ATTCTCTTCTAAGAAAAATAGACTGGACAGGCGAATGCATGCATGCATGTGTTTAGAGTTGCTTCTCAGAAGACAAAGAGATGATAGCAACTATTAAAAT
ATGAATGAATGAATGAGTGAATGAGTTGAAGGCCTAGCTCGGGCTGATAAAGCTTTTGCCTTAGTAGAGGTTTTATGTCAACACCTTCAGGAGGGAAGCC
CTTATTTCTGGGTTGAACTCCCCTTCCATGATATTATGCTAGCAATTGCCATCACTTAGTTCCTGGCGAAGGCAGAAAAAGAAAACAAAAAATCAGCATT
GTCATTGACAAAACTGGATGCTGAAGATAAAGTAAAATTGTCTTTTCCCTTGTCCCACATTTTTGGGATTAAAGCCAGAATTGAATAGGAAATACAGTAC
TATTTCTGAAGTTGATAGCCGATCTTTAAGAAGACCCTGTCTTTAAAATGAAACTAGCAGGCAAACACCTAAATAATCGAAAATTACCAAAGAACAACAA
CGAAACAAGAAAACCTAAAGATTTTTACTTCCTATTCTTATTCCTTTCCTTATTACTGTGACACCCCTTGCATTGCTCAGTTGCCTGTGTGTCAAAATAA
CTTGTGGACGTTGGAAATTATTTGAAAATGTATTGTGTGGAATGTAATAAAATGATGATATTTTTATAC

Protein Sequence    (SEQ ID NO:708):
MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL
LGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP
LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS
DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA
PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG
VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT
VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYA
RLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENC
MEPISAFAGGTLLPGTEPTVDTVPMQPIPAYWYYVMAAGGAVLVLVSVALALVLHYHRFRYAAKKTDHSITYKTSHYTNGAPLAVEPTLTIKLEQDRGSH
C


SNP Information

Context             (SEQ ID NO:1631):
AAATGATTGACATTCCTGTAGGTGCCCCATAGAGGTGTGGCATTGAGAAATTATGTCTGGAAAATACAGCCAGTGTAGTGACCAGCTGAGTTACCATATA
S
CCTGATGATTCCCCTTCTGTAACAGAAGGTGACAACAACTTTGTGAACTTTCTATATCTTTATCTGATGCCCCAAGTGGCATCATCTTTATGTACATGCC
Celera SNP ID:            hCV2186466
SNP Position Transcript:  5366
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|C,6)      total(G,3|C,6) ;no_pop(C,-|G,-)   JBIC-allele(C,285|G,1182)   total(G,1182|C,285)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1632):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 128, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1633):
TTGGGAGAGACTTTCAGCATTCTTTCACGATATCCAGATATGTCCCTTCAGCACACACACTCAACTTTCTCATCTGGTTCGTTTCATCCTCCCGAAAGAA
Y
GGTGCTCTCCCACTCTTACTCTATTTCAAAGAGCTACTCTGTCTCAACCACAGCAGCCCTGCCAAGAAAAGGCAAGATGAAAGGCTAGAGCATGTGCTAC
Celera SNP ID:            hCV2186467
SNP Position Transcript:  5001
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,1)   total(C,67|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1634):
TACTCTGTCTCAACCACAGCAGCCCTGCCAAGAAAAGGCAAGATGAAAGGCTAGAGCATGTGCTACCTTGAGATTTCAAGAAGTGTCCTACCTCAGCTGA
R
GATGGAGAAACGGGGAGTGGAGAGGGGATCAGCCCAGGGTACCATGTGATGACTAATATGCCACTCATTAAGGGCTTTTACCTCGGCTGTCCACATCCAG
Celera SNP ID:            hCV25772212
SNP Position Transcript:  5136
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,1)   caucasian(A,20)   total(A,33|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None



Context             (SEQ ID NO:1635):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:708, 158, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1636):
ATGTTGCCTTATAAAAGAGAAGCTCATAATGAATGTTTAGCCTTTATCAGTTACATCCAATCTTGGAATAAGTCATAGAGAATAACAAGTCTGGGACTGA
Y
GTAGGAAAAACAGTAGTCTGTTTAAGTTGAGAGGAGGAGGAGGTGGACGAGAGAAGGGAGGAGAGGGAAGAACTGAAATGTCTCCTCACCCAGGGTGGTT
Celera SNP ID:            hCV2186469
SNP Position Transcript:  4154
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,9)      total(C,9|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1637):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1882
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 468, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 468, (V,GTC)   (V,GTT)      468, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1638):
TCTGTTTAAGTTGAGAGGAGGAGGAGGTGGACGAGAGAAGGGAGGAGAGGGAAGAACTGAAATGTCTCCTCACCCAGGGTGGTTATTGGGCCCAACTTGG
R
ATGGGGTTGAGTACGAAGGTTAAAAAACATATACTTTGGTATTATATTGGTCATTGTAATAGCAGTTGTAAAATATGGGGGGAAAAGGGATCATTTGCTT
Celera SNP ID:            hCV16079278
SNP Position Transcript:  4271
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,416|G,1069)   total(G,1069|A,416)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1639):
TTCCTGCTAAAAATCCACTGGGGAGGTATAAAATTCACTCCAAAGAAGTTTGCCTGGGCCAAAAGCCTCCAGGTTCCTTCTGAGAACAAAATACTAATGA
T
TTTTTTTTTTTTTTTGGCTGCTTGGGAGAGACTTTCAGCATTCTTTCACGATATCCAGATATGTCCCTTCAGCACACACACTCAACTTTCTCATCTGGTT
Celera SNP ID:            hCV8486777
SNP Position Transcript:  4879
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,6)   total(T,6|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1640):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  1204
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 242, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1641):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 290, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1642):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1549
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:708, 357, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:708, 357, (Y,TAC)   (Y,TAT)      357, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1643):
AAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  2152
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 558, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:708, 558, (P,CCG)   (P,CCT)      558, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:1644):
AGTTTCTGTGTGAACTCTCAGACATCTCTTTCCCGGATCCCCAACCCTGAGCACTCTTATCAATCCCAACCATCCTCCTTGGGTTCATTTTGGTTTCTGG
K
TTTTCTTTTTCCTTTTTGTTGATTCCAAACCAACAAACCCAACTCTAATGCTGCATCTTGGACTATCCGAAGAGATCCACCCCCAAGCACTCCACAACTC
Celera SNP ID:            hCV26480037
SNP Position Transcript:  3369
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,14)   total(G,1|T,14) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1645):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  846
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:708, 123, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:708, 123, (K,AAG)   (R,AGG)      123, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1646):
TAAAATTCACTCCAAAGAAGTTTGCCTGGGCCAAAAGCCTCCAGGTTCCTTCTGAGAACAAAATACTAATGATTTTTTTTTTTTTTTTGGCTGCTTGGGA
S
AGACTTTCAGCATTCTTTCACGATATCCAGATATGTCCCTTCAGCACACACACTCAACTTTCTCATCTGGTTCGTTTCATCCTCCCGAAAGAACGGTGCT
Celera SNP ID:            hCV25742180
SNP Position Transcript:  4907
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,29)   caucasian(C,2|G,36)   total(C,3|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None



Context             (SEQ ID NO:1647):
AGAAACCTCTGCATAAGACGTTGTAAGGAGGAAAATAAAAGAGAGAAAAACACAAAGATTTAAACAAGAAACCTACGAACCCAGCTCTGGAAAGAGCCAC
Y
TTCTCCAAAATGGATATGTTTCCTCTCACCTGGGTTTTCTTAGCCCTCTACTTTTCAAGACACCAAGTGAGAGGCCAACCAGACCCACCGTGCGGAGGTC
Celera SNP ID:            hCV8807769
SNP Position Transcript:  469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1648):
CTGGCTGGGTTTCTGTTGGCTGTCATTGTCATCTCCAGGTACCTAAAGAAATAGAGGCCACATGGGATGCAGTGTGGCTTCTCCCATCCCTATCCCCAAC
Y
CACCTGACCCAAGAGAAGGTTCCCCTAGCACACTCAAACAAGACCCCCTTGTCTTCTGGTGTCTTTGAAATGTCAAGATAACAGCCACTGGGTGTCTGCG
Celera SNP ID:            hCV2186470
SNP Position Transcript:  3918
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,8)      total(C,8|T,3) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Context             (SEQ ID NO:1649):
GCTGAGTTACCATATACCCTGATGATTCCCCTTCTGTAACAGAAGGTGACAACAACTTTGTGAACTTTCTATATCTTTATCTGATGCCCCAAGTGGCATC
W
TCTTTATGTACATGCCTTAGTTGAGAATATGAGACTGCTCTAATCTTTGTGAATGCCTTCACACTTCAGCTGAGGATGTCACCTTCTCTGTCACTCCCCA
Celera SNP ID:            hCV2186465
SNP Position Transcript:  5450
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|A,6)      total(A,6|T,4) ;JBIC-allele(A,299|T,1196)   total(A,299|T,1196)   no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:708, None   



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT6225 - 209000073632559
Public Transcript Accession: NM_003872
Celera Protein:              hCP34805 - 209000073632540
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11222813..11335153)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:12):
GCCGGCTGGCTTGGGAATCCAAGCGCTGGCCCAACTAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCACCTCTCCCGGTTAC
CCCCAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCTCACTTTGAAATCG
AGAAGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCAC
CATCATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGC
TCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCA
TCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACTGCAAGTACGATTG
GCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGACRGGGATCCTC
TCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATG
TTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCA
TGGTGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAG
GGAGCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCA
AAAACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTAGAATCCGCCCTCA
GACCTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCTCTCAGGCCTCATT
GCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGGTTCCCTCGAATCC
CTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCGGAGGAGACAGTAT
CACTGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAG
CCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGT
CGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGACTCCAAGCCCACGGTAGAGACGCTGGGACCCACTGTGAAGAGCGAAGA
GACAACCACCCCCTACCCCACCGAAGAGGAGGCCACAGAGTGTGGGGAGAACTGCAGCTTTGAGGATGACAAAGATTTGCAGCTCCCTTCGGGATTCAAT
TGCAACTTCGATTTCCTCGAGGAGCCCTGTGGTTGGATGTATGACCATGCCAAGTGGCTCCGGACCACCTGGGCCAGCAGCTCCAGCCCAAACGACCGGA
CGTTTCCAGATGACAGGAATTTCTTGCGGCTGCAGAGTGACAGCCAGAGAGAGGGCCAGTATGCCCGGCTCATCAGCCCCCCTGTCCACCTGCCCCGAAG
CCCGGTGTGCATGGAGTTCCAGTACCAGGCCACGGGCGGCCGCGGGGTGGCGCTGCAGGTGGTGCGGGAAGCCAGCCAGGAGAGCAAGTTGCTGTGGGTC
ATCCGTGAGGACCAGGGCGGCGAGTGGAAGCACGGGCGGATCATCCTGCCCAGCTACGACATGGAGTACCAGATTGTGTTCGAGGGAGTGATAGGGAAAG
GACGTTCCGGAGAGATTGCCATTGATGACATTCGGATAAGCACTGATGTCCCACTGGAGAACTGCATGGAACCCATCTCGGCTTTTGCAGTGGACATCCC
AGAAATACATGAGAGAGAAGGATATGAAGATGAAATTGATGATGAATACGAGGTGGACTGGAGCAATTCTTCTTCTGCAACCTCAGGGTCTGGCGCCCCC
TCGACCGACAAAGAAAAGAGCTGGCTGTACACCCTGGATCCCATCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTG
CAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGYTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTAYGATGGCCTTAA
GCACAAGGTCAAGATGAACCACCARAAGTGCTGCTCCGAGGCATGACRGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGA
AGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACCRATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAG
GAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAA
CAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTGWATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCT
GTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAAGTGGAGCAGTGATCATTATTCTCCGCTTTCTCTTTCTAATCAACACTTGA
AAAGCAAAGTGTCTTTTCAGCCTTTCCATCTTTACAAATAAAACTCAAAAAAGCCGTCCAGCTTATCCCATCCTCTGATTGTCTTCTGACTTAAGGGATT
TACTGTGGTGTAGGTTCTGCCAGCCAACCCTACAAGCTGCCATTTCCAGTCCTAGCATTTAAGTAGGATGTTGTTGCCTTTAACTTTTCTTATCCAGGGG
AAAATTGCCATTTTAGGGTCAGCATGAACAGCTCTTTCTTGTATGCGATTTAAAACAAACTGGAAAGGAAACTTCACACGTCAAAATCCATAGAAGCGCC
TGGACGAGGCTTAAAGTGCTTTGTGAGTGAATAGGAGCCATTCGCTAATTCTAGACCCACAGTGTCTGGTGGTGGGGCTTCCCTTGTGGGGCTTCTGGTG
GTGGTTTTGCCTTTTCTTTTCCCTCCTCCATGTTCTTCTAAAACATATACATATATACATACACACATACACATATTCTTCAGGTCTCTAAGCCCCTGGA
AGCAGCATTGTGTGATATTCTCAGAGGCAGGGGAAAATAGAGGGAAAAATAGAGACTATTGGTATGTTCTCCCCATCAGCGAGTTATTGTAACTGGTCAC
CACTGGACGGGAAGGAGAACAGAGGAGAGGGAAAGAGAAGCCCAACCTCTGTGATCATATGAGGGCCAAGGCTGAGCAGTGTAGACAGAGACCCTTTGAA
ATGCATTTGTCTCTCAAATAGACTAGTAAACACCGACTTCTCCTTTGGGTTACAAACACCATTTCAACCTTTCGGGAGAGTCAGAGCTAGGATGTACAAG
AACTGATTCTAACCAGAAGTCCGCAAGTACTGTGGACAAGAATGCTTAACCATGCTGCTTCAGCCTTGAGAGACCTAGGTTCTTACACATATGCACACAC
GCATACACACATGCACGCACACACACATACACACATGCACGCACGCACGCATGCACACCAATTTATGTTTTTATTAAGTGCCTTGAAAAAATGAAGAAAA
ATGTATTTTCCCTTTATGTAAAAATTAGTGAATATCTTATGAATTAAGGCATTCCTCTTTCCCTAACCCCGATGGCTCCATTCCCAAGTACCCCAACTCA
CTGCTGATCCTATTAAAGGAATGAGTCCTGCTACCCGAGTGGTAGTCATAGCCCTAGATGACTCTCAACTACTCTTCAAAGGGAGGCATCAGGAATAGAA
TGAAACTGTGTGAAGGATAAGATTGTTCGCATCAAGATCCAAATCTTGATTTCATATTAACGCCTAAGGATTGCCTGTGTGCTGGAAATATATTTGAAAC
TCAACCAGTATGCCCAGCCTATTGCATATCATTGTCAGACCATTTTTGCTGCTGTGGTCACCCACGATTTCATTTGTCTTATACCCAGGTGAAAGGGGAA
GGGTGAATGGGACTGGCTGGTTCCTTTAAATGTTAACTTATGGAAATGCTAGTTCAAATGGTAATGTCACAGTGTTTTGTATGCAGAGAGCAAGAGTTCA
ACCAACAGCTGTTTATTCATGTGTGTGTGTCTTTGCTGCTTTGAGTTCTCTGTATCTACTGTGTATGTGAATGGTCATGTGGGACTCAGTGGTGGTGTTG
TGACTTTGACCTAGGGTCCGAGTGTCACAGCTGATCTTGGCACTCGGCACTCATTGGCACAGTGGTAGTTAGAGGTGAAAAGTAGAGCTGTCAAGCCCAA
GGGCTTAGCTTTAGGGCTCCTCCTGAGTTCGGCCCACAGTAGAAGCAAGATTTTAACTAGCCCCTTTTCCTCTTCACCCTCCCATGATGCGCAGTGTTCA
GAAAGCTGGTAAGTCCTAGGGATTTCCAGAAGTAGCCTGCAGAAGAAGGTAAGTTTGAAAGCCACTCCAGGGGTCCTGATGCTGTCATGCTCAGTGAGCC
ATTTTACAGTTCTCCAAAGTCTAGCCCTGTTTCGGACCTGCACTTCACCTCTAAGTTATGTACAACTCAACCTGCATCCCTCTAAAAGTCCTATATCCAT
ATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGSAGGGCTACATGTAGATACCACACCAAGGCTGGAGGC
TGSTCTGTCRTAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGC
TGACCCATCTCCTTGAGTCATTCCCTTTGGGAAACCCCACTGCCAGTATTGATCTCCTTTTTGCCTTGTACTGAATGACACATTACCTCCACACTCTCCC
GGACTAGGTGGTCAACAGGGCCACAGGGTTGCTTTCTGTCTTTGGTGGGGCAGGGGAGTTGACAGGGATGAGGGTCCAAGGAATAAGCATGAATGACAAG
AAAACAAGGGAAAGAGTTAACCTGTCACATAGCAGGTTAACTTTTTCAGGGTTTGCAGTTAGAGGTATTCGACCATTCACTGGCTGAGCCAGATCACGGG
AACTTGAGAGCTTTTACTGTGATTCTTCAATGTAAAAAATAAACAACAATGTCAAACTGTGTTTATATGATTTGTATAAAGCCTTTTTAAGATTACTATT
TAAATAAACATTATACCAGAGAT

Protein Sequence    (SEQ ID NO:709):
MLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDG
IPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGW
TPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGI
ALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEAR
AFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYP
TEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEF
QYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAVDIPEIHERE
GYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMN
HQKCCSEA


SNP Information

Context             (SEQ ID NO:1650):
TCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAG
Y
TCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCAT
Celera SNP ID:            hCV25636146
SNP Position Transcript:  2644
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 775, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 775, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:1651):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  349
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 10, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1652):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:709, 40, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1653):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1369
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 350, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 350, (V,GTC)   (V,GTT)      350, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1654):
CGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTG
W
ATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAA
Celera SNP ID:            hCV11722403
SNP Position Transcript:  3050
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|T,3|-,8)   total(A,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None   



Context             (SEQ ID NO:1655):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  691
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 124, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1656):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  835
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 172, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1657):
CGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGAC
R
GATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATC
Celera SNP ID:            hCV29134890
SNP Position Transcript:  2748
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None   



Context             (SEQ ID NO:1658):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1036
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:709, 239, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:709, 239, (Y,TAC)   (Y,TAT)      239, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1659):
AAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  1639
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 440, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 440, (P,CCG)   (P,CCT)      440, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:1660):
GGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTA
Y
GATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGA
Celera SNP ID:            hCV29134888
SNP Position Transcript:  2689
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 790, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1661):
GTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCA
R
AAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGA
Celera SNP ID:            hCV29134889
SNP Position Transcript:  2725
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:709, 802, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1662):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  333
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:709, 5, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:709, 5, (K,AAG)   (R,AGG)      5, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1663):
TGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTC
R
TAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGACCCATCT
Celera SNP ID:            hCV2186445
SNP Position Transcript:  5310
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;POOLE|_CEPH(G,71|A,118)   total(G,71|A,118)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None   



Context             (SEQ ID NO:1664):
TCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTG
S
TCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGA
Celera SNP ID:            hCV2186446
SNP Position Transcript:  5303
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   POOLE|_CEPH(C,68|G,120)   total(G,120|C,68)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None   



Context             (SEQ ID NO:1665):
AACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACG
S
AGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTT
Celera SNP ID:            hCV2186447
SNP Position Transcript:  5264
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None   



Context             (SEQ ID NO:1666):
CACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACC
R
ATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTG
Celera SNP ID:            hCV25636153
SNP Position Transcript:  2854
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:709, None



Gene Number:                 4
Celera Gene:                 hCG15204 - 209000073632476
Celera Transcript:           hCT2303055 - 209000073632593
Public Transcript Accession: NM_003872
Celera Protein:              hCP1807712 - 209000073632569
Public Protein Accession:    NP_003863
Gene Symbol:                 NRP2
Protein Name:                neuropilin 2;NPN2;PRO2714;VEGF1265R2;VEGF165R2
Celera Genomic Axis:         GA_x5YUV32VWPT(11222315..11335153)
Chromosome:                  Chr2
OMIM number:                 602070
OMIM Information:            NEUROPILIN 2;NRP2


Transcript Sequence (SEQ ID NO:13):
CTGGGACCTGCCAGGGACCTCCAGCTCCCCAAAATGCGATCTCAAGCCGTGAGCTGCTCAGGCTTTCAGGCGGAGCAAAGCACTGGCACCCTGGGAGCCG
GCAGCGGGTGGCCAGGGCGAGGCCAAGCYACACCTCTGACTCACCCGGTGTGCGCCGGCCGGGAAGGGGGCCTGGTTCAGCCGCCGCCGCCGGCGACGAG
AACCAATTCTGGGAAGGAGCAAGATGGGGCAGAAGACCCACCGTGCGGAGGTCGTTTGAATTCCAAAGATGCTGGCTATATCACCTCTCCCGGTTACCCC
CAGGACTACCCCTCCCACCAGAACTGCGAGTGGATTGTTTACGCCCCCGAACCCAACCAGAAGATTGTCCTCAACTTCAACCCTCACTTTGAAATCGAGA
AGCACGACTGCAAGTATGACTTTATCGAGATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCAT
CATCTCCTCGGGCTCCATGCTCTACATCARGTTCACCTCCGACTAYGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCT
GAAGATTGCTCAAAAAACTTCACAAGCCCCAACSGGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCC
TGGCCAAACCCAAGATGGAGATCATCCTGCAGTTCCTGATCTTTGACCTGGAGCATGACCCTTTGCAGGTGGGAGAGGGGGACTGCAAGTACGATTGGCT
GGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGACRGGGATCCTCTCC
CTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTC
CTCTGGGCATGGAGTCTGGCCGGATTGCTAAYGAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGG
TGATGACAATGGCTGGACCCCCAACTTGGATTCCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGA
GCGATTTCCAGGGAAACACAGAATGGCTACTAYGTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAA
ACCACAAGGTATTTCAAGCCAACAACGATGCAACTGAGGTGGTTCTGAACAAGCTCCACGCTCCACTGCTGACAAGGTTTGTTAGAATCCGCCCTCAGAC
CTGGCACTCAGGTATCGCCCTCCGGCTGGAGCTCTTCGGCTGCCGGGTCACAGATGCTCCCTGCTCCAACATGCTGGGGATGCTCTCAGGCCTCATTGCA
GACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGTYAGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTC
AGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCATCATCCAGGGAGCCCGCGGAGGAGACAGTATCAC
TGCTGTGGAAGCCAGAGCATTTGTGCGCAAGTTCAAAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCA
AAGCTGTTCGAAGGGAACATGCACTATGACACCCCKGACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGC
CGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCTGTGACTGGACAGACTCCAAGCCCACGGTAGAGACGCTGGGACCCACTGTGAAGAGCGAAGAGAC
AACCACCCCCTACCCCACCGAAGAGGAGGCCACAGAGTGTGGGGAGAACTGCAGCTTTGAGGATGACAAAGATTTGCAGCTCCCTTCGGGATTCAATTGC
AACTTCGATTTCCTCGAGGAGCCCTGTGGTTGGATGTATGACCATGCCAAGTGGCTCCGGACCACCTGGGCCAGCAGCTCCAGCCCAAACGACCGGACGT
TTCCAGATGACAGGAATTTCTTGCGGCTGCAGAGTGACAGCCAGAGAGAGGGCCAGTATGCCCGGCTCATCAGCCCCCCTGTCCACCTGCCCCGAAGCCC
GGTGTGCATGGAGTTCCAGTACCAGGCCACGGGCGGCCGCGGGGTGGCGCTGCAGGTGGTGCGGGAAGCCAGCCAGGAGAGCAAGTTGCTGTGGGTCATC
CGTGAGGACCAGGGCGGCGAGTGGAAGCACGGGCGGATCATCCTGCCCAGCTACGACATGGAGTACCAGATTGTGTTCGAGGGAGTGATAGGGAAAGGAC
GTTCCGGAGAGATTGCCATTGATGACATTCGGATAAGCACTGATGTCCCACTGGAGAACTGCATGGAACCCATCTCGGCTTTTGCAGTGGACATCCCAGA
AATACATGAGAGAGAAGGATATGAAGATGAAATTGATGATGAATACGAGGTGGACTGGAGCAATTCTTCTTCTGCAACCTCAGGGTCTGGCGCCCCCTCG
ACCGACAAAGAAAAGAGCTGGCTGTACACCCTGGATCCCATCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAG
GCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGYTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTAYGATGGCCTTAAGCA
CAAGGTCAAGATGAACCACCARAAGTGCTGCTCCGAGGCATGACRGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGA
TTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACCRATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAG
GAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAG
GAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTGWATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTG
AGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAAGTGGAGCAGTGATCATTATTCTCCGCTTTCTCTTTCTAATCAACACTTGAAAA
GCAAAGTGTCTTTTCAGCCTTTCCATCTTTACAAATAAAACTCAAAAAAGCCGTCCAGCTTATCCCATCCTCTGATTGTCTTCTGACTTAAGGGATTTAC
TGTGGTGTAGGTTCTGCCAGCCAACCCTACAAGCTGCCATTTCCAGTCCTAGCATTTAAGTAGGATGTTGTTGCCTTTAACTTTTCTTATCCAGGGGAAA
ATTGCCATTTTAGGGTCAGCATGAACAGCTCTTTCTTGTATGCGATTTAAAACAAACTGGAAAGGAAACTTCACACGTCAAAATCCATAGAAGCGCCTGG
ACGAGGCTTAAAGTGCTTTGTGAGTGAATAGGAGCCATTCGCTAATTCTAGACCCACAGTGTCTGGTGGTGGGGCTTCCCTTGTGGGGCTTCTGGTGGTG
GTTTTGCCTTTTCTTTTCCCTCCTCCATGTTCTTCTAAAACATATACATATATACATACACACATACACATATTCTTCAGGTCTCTAAGCCCCTGGAAGC
AGCATTGTGTGATATTCTCAGAGGCAGGGGAAAATAGAGGGAAAAATAGAGACTATTGGTATGTTCTCCCCATCAGCGAGTTATTGTAACTGGTCACCAC
TGGACGGGAAGGAGAACAGAGGAGAGGGAAAGAGAAGCCCAACCTCTGTGATCATATGAGGGCCAAGGCTGAGCAGTGTAGACAGAGACCCTTTGAAATG
CATTTGTCTCTCAAATAGACTAGTAAACACCGACTTCTCCTTTGGGTTACAAACACCATTTCAACCTTTCGGGAGAGTCAGAGCTAGGATGTACAAGAAC
TGATTCTAACCAGAAGTCCGCAAGTACTGTGGACAAGAATGCTTAACCATGCTGCTTCAGCCTTGAGAGACCTAGGTTCTTACACATATGCACACACGCA
TACACACATGCACGCACACACACATACACACATGCACGCACGCACGCATGCACACCAATTTATGTTTTTATTAAGTGCCTTGAAAAAATGAAGAAAAATG
TATTTTCCCTTTATGTAAAAATTAGTGAATATCTTATGAATTAAGGCATTCCTCTTTCCCTAACCCCGATGGCTCCATTCCCAAGTACCCCAACTCACTG
CTGATCCTATTAAAGGAATGAGTCCTGCTACCCGAGTGGTAGTCATAGCCCTAGATGACTCTCAACTACTCTTCAAAGGGAGGCATCAGGAATAGAATGA
AACTGTGTGAAGGATAAGATTGTTCGCATCAAGATCCAAATCTTGATTTCATATTAACGCCTAAGGATTGCCTGTGTGCTGGAAATATATTTGAAACTCA
ACCAGTATGCCCAGCCTATTGCATATCATTGTCAGACCATTTTTGCTGCTGTGGTCACCCACGATTTCATTTGTCTTATACCCAGGTGAAAGGGGAAGGG
TGAATGGGACTGGCTGGTTCCTTTAAATGTTAACTTATGGAAATGCTAGTTCAAATGGTAATGTCACAGTGTTTTGTATGCAGAGAGCAAGAGTTCAACC
AACAGCTGTTTATTCATGTGTGTGTGTCTTTGCTGCTTTGAGTTCTCTGTATCTACTGTGTATGTGAATGGTCATGTGGGACTCAGTGGTGGTGTTGTGA
CTTTGACCTAGGGTCCGAGTGTCACAGCTGATCTTGGCACTCGGCACTCATTGGCACAGTGGTAGTTAGAGGTGAAAAGTAGAGCTGTCAAGCCCAAGGG
CTTAGCTTTAGGGCTCCTCCTGAGTTCGGCCCACAGTAGAAGCAAGATTTTAACTAGCCCCTTTTCCTCTTCACCCTCCCATGATGCGCAGTGTTCAGAA
AGCTGGTAAGTCCTAGGGATTTCCAGAAGTAGCCTGCAGAAGAAGGTAAGTTTGAAAGCCACTCCAGGGGTCCTGATGCTGTCATGCTCAGTGAGCCATT
TTACAGTTCTCCAAAGTCTAGCCCTGTTTCGGACCTGCACTTCACCTCTAAGTTATGTACAACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATT
CACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGSAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGS
TCTGTCRTAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGA
CCCATCTCCTTGAGTCATTCCCTTTGGGAAACCCCACTGCCAGTATTGATCTCCTTTTTGCCTTGTACTGAATGACACATTACCTCCACACTCTCCCGGA
CTAGGTGGTCAACAGGGCCACAGGGTTGCTTTCTGTCTTTGGTGGGGCAGGGGAGTTGACAGGGATGAGGGTCCAAGGAATAAGCATGAATGACAAGAAA
ACAAGGGAAAGAGTTAACCTGTCACATAGCAGGTTAACTTTTTCAGGGTTTGCAGTTAGAGGTATTCGACCATTCACTGGCTGAGCCAGATCACGGGAAC
TTGAGAGCTTTTACTGTGATTCTTCAATGTAAAAAATAAACAACAATGTCAAACTGTGTTTATATGATTTGTATAAAGCCTTTTTAAGATTACTATTTAA
ATAAACATTATACCAGAGAT

Protein Sequence    (SEQ ID NO:710):
MRSQAVSCSGFQAEQSTGTLGAGSGWPGRGQATPLTHPVCAGREGGLVQPPPPATRTNSGKEQDGAEDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEW
IVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPN
GTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAK
DGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYY
VKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQE
YLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDT
PDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGW
MYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHG
RIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTL
DPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMNHQKCCSEA


SNP Information

Context             (SEQ ID NO:1667):
TCCTCATCACCATCATCGCCATGAGCTCACTGGGCGTCCTCCTGGGGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAG
Y
TCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCAT
Celera SNP ID:            hCV25636146
SNP Position Transcript:  2841
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 936, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 936, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:1668):
GTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCAAGTTCACCTCCGACTA
Y
GCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAACGGGACCATCGAAT
Celera SNP ID:            hCV25636155
SNP Position Transcript:  546
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 171, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1669):
CACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCCAAC
S
GGACCATCGAATCTCCTGGGTTTCCTGAGAAGTATCCACACAACTTGGACTGCACCTTTACCATCCTGGCCAAACCCAAGATGGAGATCATCCTGCAGTT
Celera SNP ID:            hCV25636165
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:710, 201, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:1670):
CCAACATGCTGGGGATGCTCTCAGGCCTCATTGCAGACTCCCAGATCTCCGCCTCTTCCACCCAGGAATACCTCTGGAGCCCCAGTGCAGCCCGCCTGGT
Y
AGCAGCCGCTCGGGCTGGTTCCCTCGAATCCCTCAGGCCCAGCCCGGTGAGGAGTGGCTTCAGGTAGATCTGGGAACACCCAAGACAGTGAAAGGTGTCA
Celera SNP ID:            hCV8807897
SNP Position Transcript:  1566
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,34|T,2)   total(C,64|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 511, (V,GTC)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 511, (V,GTC)   (V,GTT)      511, (V,GTT)   (V,GTC)      



Context             (SEQ ID NO:1671):
CGGTGGCTAAGTCATTGCAGGAACGGGGCTGTGTTCTCTGCTGGGACAAAACAGGAGCTCATCTCTTTGGGGTCACAGTTCTATTTTGTTTGTGAGTTTG
W
ATTATTATTATTATTATTATTATTATTATTATATTTTATTTCTTTGGTCTGTGAGCAACTCAAAGAGGCAGAAGAGGAGAATGACTTTTCCAGAATAGAA
Celera SNP ID:            hCV11722403
SNP Position Transcript:  3247
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|T,3|-,8)   total(A,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None   



Context             (SEQ ID NO:1672):
AGTACGATTGGCTGGACATCTGGGATGGCATTCCACATGTTGGCCCCCTGATTGGCAAGTACTGTGGGACCAAAACACCCTCTGAACTTCGTTCATCGAC
R
GGGATCCTCTCCCTGACCTTTCACACGGACATGGCGGTGGCCAAGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTC
Celera SNP ID:            hCV16171536
SNP Position Transcript:  888
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 285, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1673):
AGGATGGCTTCTCTGCGCGTTACTACCTGGTCCACCAAGAGCCACTAGAGAACTTTCAGTGCAATGTTCCTCTGGGCATGGAGTCTGGCCGGATTGCTAA
Y
GAACAGATCAGTGCCTCATCTACCTACTCTGATGGGAGGTGGACCCCTCAACAAAGCCGGCTCCATGGTGATGACAATGGCTGGACCCCCAACTTGGATT
Celera SNP ID:            hCV16171537
SNP Position Transcript:  1032
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,9)   total(C,2|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 333, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1674):
CGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGAC
R
GATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATC
Celera SNP ID:            hCV29134890
SNP Position Transcript:  2945
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None   



Context             (SEQ ID NO:1675):
CCAACAAGGAGTATCTCCAGGTGGACCTGCGCTTTTTAACCATGCTCACGGCCATCGCAACACAGGGAGCGATTTCCAGGGAAACACAGAATGGCTACTA
Y
GTCAAATCCTACAAGCTGGAAGTCAGCACTAATGGAGAGGACTGGATGGTGTACCGGCATGGCAAAAACCACAAGGTATTTCAAGCCAACAACGATGCAA
Celera SNP ID:            hCV2186500
SNP Position Transcript:  1233
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(C,22|T,12)   total(C,31|T,39)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:710, 400, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,321|C,978)   total(C,978|T,321)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:710, 400, (Y,TAC)   (Y,TAT)      400, (Y,TAT)   (Y,TAC)      



Context             (SEQ ID NO:1676):
AAGTCTCCTACAGCCTAAACGGCAAGGACTGGGAATACATTCAGGACCCCAGGACCCAGCAGCCAAAGCTGTTCGAAGGGAACATGCACTATGACACCCC
K
GACATCCGAAGGTTTGACCCCATTCCGGCACAGTATGTGCGGGTATACCCGGAGAGGTGGTCGCCGGCGGGGATTGGGATGCGGCTGGAGGTGCTGGGCT
Celera SNP ID:            hCV8807907
SNP Position Transcript:  1836
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,22)   caucasian(G,3|T,23)   total(G,13|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 601, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;JBIC-allele(G,344|T,379)   total(G,344|T,379)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 601, (P,CCG)   (P,CCT)      601, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:1677):
GGGCCACCTGTGCAGGCCTCCTGCTCTACTGCACCTGTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTA
Y
GATGGCCTTAAGCACAAGGTCAAGATGAACCACCAAAAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGA
Celera SNP ID:            hCV29134888
SNP Position Transcript:  2886
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 951, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:1678):
CCAAAATGCGATCTCAAGCCGTGAGCTGCTCAGGCTTTCAGGCGGAGCAAAGCACTGGCACCCTGGGAGCCGGCAGCGGGTGGCCAGGGCGAGGCCAAGC
Y
ACACCTCTGACTCACCCGGTGTGCGCCGGCCGGGAAGGGGGCCTGGTTCAGCCGCCGCCGCCGGCGACGAGAACCAATTCTGGGAAGGAGCAAGATGGGG
Celera SNP ID:            hCV27481816
SNP Position Transcript:  129
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 32, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1679):
GTTCCTACTCGGGCCTGAGCTCCCGAAGCTGCACCACACTGGAGAACTACAACTTCGAGCTCTACGATGGCCTTAAGCACAAGGTCAAGATGAACCACCA
R
AAGTGCTGCTCCGAGGCATGACGGATTGCACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGA
Celera SNP ID:            hCV29134889
SNP Position Transcript:  2922
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:710, 963, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1680):
ATTCGGGATGGGGACAGTGAATCCGCAGACCTCCTGGGCAAACACTGTGGGAACATCGCCCCGCCCACCATCATCTCCTCGGGCTCCATGCTCTACATCA
R
GTTCACCTCCGACTACGCCCGGCAGGGGGCAGGCTTCTCTCTGCGCTACGAGATCTTCAAGACAGGCTCTGAAGATTGCTCAAAAAACTTCACAAGCCCC
Celera SNP ID:            hCV2186509
SNP Position Transcript:  530
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,40)   total(A,72|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:710, 166, (K,AAG)   (R,AGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,8)      total(G,3|A,8) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:710, 166, (K,AAG)   (R,AGG)      166, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:1681):
TGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTC
R
TAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGACCCATCT
Celera SNP ID:            hCV2186445
SNP Position Transcript:  5507
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;POOLE|_CEPH(G,71|A,118)   total(G,71|A,118)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None   



Context             (SEQ ID NO:1682):
TCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACGCAGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTG
S
TCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTTGGTGTGTTTGTTATCTTTATCTGTGGGTAGGCTAGCTGA
Celera SNP ID:            hCV2186446
SNP Position Transcript:  5500
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   POOLE|_CEPH(C,68|G,120)   total(G,120|C,68)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None   



Context             (SEQ ID NO:1683):
AACTCAACCTGCATCCCTCTAAAAGTCCTATATCCATATTCACCATTGGCTAATTTGAGGCCCTGAGTGGGCCTTGAATGCTAAAAAGAAGCAGGGTACG
S
AGGGCTACATGTAGATACCACACCAAGGCTGGAGGCTGGTCTGTCATAAGACAGAAAGAAAGACGCTGGGCCCAATTTTGACTTGGCCAGGGGACACCTT
Celera SNP ID:            hCV2186447
SNP Position Transcript:  5461
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None   



Context             (SEQ ID NO:1684):
CACCTGAATCCTATCTGACGTTTCATTCCAGCAAGAGGGGCTGGGGAAGATTACATTTTTTTTTCCTTTGGAAACTGAATGCCATAATCTCGATCAAACC
R
ATCCAGAATACCGAAGGTATGGACAGGACAGAAAAGCGAGTCGCAGGAGGAAGGGAGATGCAGCCGCACAGGGGATGATTACCCTCCTAGGACCGCGGTG
Celera SNP ID:            hCV25636153
SNP Position Transcript:  3051
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:710, None



Gene Number:                 5
Celera Gene:                 hCG15257 - 116000144873091
Celera Transcript:           hCT6278 - 116000144873092
Public Transcript Accession: NM_014959
Celera Protein:              hCP36799 - 197000069371877
Public Protein Accession:    NP_055774
Gene Symbol:                 TUCAN
Protein Name:                tumor up-regulated CARD-containing antagonist of caspase nine;CARD8;CARDINAL;DACAR;KIAA0955;NDPP1
Celera Genomic Axis:         GA_x5YUV32VSLL(249927..291519)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:14):
CTAGTTCTCAACTTCTTTTGAAATAATGTTCATAGAGAAGGAGGGCTGTCTGAGATTCGAGGGAAACAAGCTCTCAGGACTTCCGGTCGCCATGATGGCT
GTGGGCGGTAAACGCGGTTAGTGCAAGCATCTGGGCCATCTTCAATGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAA
GGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTYTGTGACATCTCACMT
TTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTGWTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTGC
TCAGAAGAGAATCAAATAGTTTCCTCTTATGCTTCTAAAGTCTGTTTTGAGATCGAAGAAGATTATAAAAATCGTCAGTTTCTGGGGCCTGAAGGAAATG
TGGATGTTGAGTTGRTTGATAAGAGCACAAACAGATACAGCGTTTGGTTCCCCACTGCTGGCTGGTATCTGTGGTCAGCCACAGGCCTCGGCTTCCTGGT
AAGGGATGAGGTCACAGTGACGATTGCGTTTGGTTCCTGGAGTCAGCACCTGGCCCTGGACCTGCAGCACCATGAACAGTGGCTGGTGGGCGGCCCCTTG
TTTGATGTCACTGCAGAGCCAGAGGAGGCTGTCGCCGAAATCCACCTCCCCCACTTCATCTCCCTCCRAGGTGAGGTGGACGTCTCCTGGTTTCTCGTTG
CCCATTTTAAGAATGAAGGGATGGTCCTGGAGCATCCAGCCCGGGTGGAGCCTTTCTATGCTGTCCTGGAAAGCCCCAGCTTCTCTCTGATGGGCATCCT
GCTGCGGATCGCCAGTGGGACTCGCCTCTCCATCCCCATCACTTCCAACACATTGATCTATTATCACCCCCACCCCGAAGATATTAAGTTCCACTTGTAC
CTTGTCCCCAGCGACGCCTTGCTAACAAAGGCGATAGATGATGAGGAAGATCGCTTCCATGGTGTGCGCCTGCAGACTTCGCCCCCAATGGAACCCCTGA
ACTTTGGTTCCAGTTATATTGTGTCTAATTCTGCTAACCTGAAAGTAATGCCCAAGGAGTTGAAATTGTCCTACAGGAGCCCTGGAGAAATTCAGCACTT
CTCAAAATTCTATGCTGGGCAGATGAAGGAACCCATTCAACTTGAGATTACTGAAAAAAGACATGGGACTTTGGTGTGGGATACTGAGGTGAAGCCAGTG
GATCTCCAGCTTGTAGCTGCATCAGCCCCTCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCCRAGCCAGGATGGGGGACCTGA
AAGGGGTGCTCGATGATCTCCARGACAATGAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTT
GCTGAGCATGGTGGAGAAGAAAGGGGACCTGGCCCTGGAYGTGSTCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAG
AATTTGTAAAATGAGTCAGTTAGGTAGTCTGGAAGAGAGAATCCAGCGTTCTCATTGGAAATGGATAAACAGAAATGTGATCATTGATTTCAGTGTTCAA
GACAGAAGAAGACTGGGTAACATCTATCACACAGGCTTTCAGGACAGACTTGTAACCTGGCATGTACCTATTGACTGTATCCTCATGCATTTTCCTCAAG
AATGTCTGAAGAAGGTAGTAATATTCCTTTTAAATTTTTTCCAACCATTGCTTGATATATCACTATTTTATCCATTGACATGATTCTTGAAGACCCAGGA
TAAAGGACATCCGGATAGGTGTGTTTATGAAGGATGGGGCCTGGAAAGGCAACTTTTCCTGATTAATGTGAAAAATAATTCCTATGGACACTCCGTTTGA
AGTATCACCTTCTCATAACTAAAAGCAGAAAAGCTAACAAAAGCTTCTCAGCTGAGGACACTCAAGGCATACATGATGACAGTCTTTTTTTTTTTTGTAT
GTTAGGACTTTAACACTTTATCTATGGCTACTGTTATTAGAACAATGTAAATGTATTTGCTGAAAGAGAGCACAAAAATGGGAGAAAATGCAAACATGAG
CAGAAAATATTTTCCCACTGGTGTGTAGCCTGCTACAAGGAGTTGTTGGGTTAAATGTTCATGGTCAACTCCAAGGAATACTGAGATGAAATGTGGTAAA
TCAACTCCACAGAACCACCAAAAAGAAAATGAGGGTAATTCAGCTTATTCTGAGACAGACATTCCTGGCAATGTACCATACAAAAAATAAGCCAACTCTG
ACATTTGGATTCTACCATAGACTCTGTCATTTTGTAGCCATTTCAGCTGTCTTTTGATTAATGTTTTCGTGGCACACATATTTCCATCCTTTTATGTTTA
ATCTGTTTAAAACAAGTTCCTAGTAGACACCATCTGGTTGAGTCAGTTTTTTTTATGGTGTATTTTGAACCCATTCTGATAGTCTCTTTTAACTGGAAGA
TTTCAATTACTTACGTTAATGTAATKATTAATATGTTAGGATTTATCCTCAGTCAGCCAGTTTGTTATGTCTTTTCTATTCTACTGTTATCACATTTGTA
CCACTTAAAGTGGAATCTAGGCACTTTATCACCATTTAGATCCTATTACCTTTTCTCATCTAGGATATAGTTATCTTCTACATAATCTTTCTGTATCTTA
AAACCCATCAATAAATTATTATATATTTTCTACTTTTAATCACTCAGAAGATTTAAAAAACTCATGAGAAGAGTAATCTGTTATGTTTTTCCAGATATTT
ACCATTTCTGTTGCTCTTCCTTCATTATTTTCCAAATTTCGTTCTGCAAATTTCCACTTCYTCTGATAGACGTTTTTTAGTTCTTTTAGAGTGGTTCTGA
TAGGTACAGATTCTCTTATTTTTTGCTTCCTCTGAGGACATCTTTTTCTCACCTTCATTCTCAGTGATGTTTTTTGCTTGTAGTATTTTTAGTTGACATT
GTTTTCTGTTCAGCAGTTTCCTTTTAGCTTMCGTATTTCCTGATGAGAAATCTGCAGTCATTCAAATTGTTGTTTCCCTGTATGTAGTGTGTCATTTTTC
TGTCAGATTTCAAGGTATTTATCTTTAGTTTTTAGCCATTTCATTATGTTGGGGATGAGTTTCCTTGTTTTATTCCCTTTGGAATTTGCTCCAATTCATA
AATTTGCAGTTTTATGTCTTTTACCAAACTTAGAGGTTTTCAGCCTAATTTCTAAAAATACTTTTTATTAGCCTGATTTTCATCTTTATAGGAAATAGTT
TAAGTGATGACAAGTTCCAATAGCTTATATGCCCAGAAGGCCTTCAAAATAAGAATTTTGAAAGAATACAGAAAACAAACTTTTATATCCTTCTCATGTC
TTCTACTGTAAAATTCATATGCTTTGCTACTCTAAACCTAGTTTGAAATCAACAGTCTTGAGAATAGATGAAAATTTTGATGAATAGTGGAATTCTTTTA
AATGGAAACCTCTTACAYGTGATTTTCCTTGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTATRTTTTGTTTTTTTCCTCCTCT
TCTGAGACTCTTATTGTGGAAATGTTAGACTTTTATGTTTTCCTAAATGTCCCTGATATTCTACTTATTTAGAACATCTTTTCATTTTTTCCATTATTCT
GATTGGGTAATTTTAATTTGTCTATTTTCAAATTTGCTGGAGTGTTCACCTGTTGTTRTCTGTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTT
TGGTCACTGTATGTATCAGTTCTAAAATTTCCATTTTGTTCTCTATATTTTAAATTTCTTGSCTTATATTCTATTTTCCTGCAAATGTGTCAGCATTTGC
TTGTTTGAGCTTTTTTTTTTTCAAGACAGGGTCTCAACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGG
TTCAAGCGATTATTGTGCCTCAGCCTCCWGAGTAGCTGGRATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGT
TTTGCTATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTACACCTGGCA
CATTTGAGTATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTC
TGTCTCCCGGGCTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCAACACGCCCGGCTAATTTTTTTTWAAAAATATT
TTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGG
CATGAGCCACCGTGCCTGGCCTCATTTGAGTATTTTTATAATGTCTCTTTTAAAGTCTTTGTCAGATAATTYCACTGTACATGTTATTCAGTGTTTGGTG
TCCACTGAGTTGTCATTTGCCAGACAAGTGGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGATATGTACCCTCGAMATGTGAATGTTATCT
TATGAGACTCTGTTTTATTTGTATCCAACAGAAGATGTTTATTATTTATTTGGCTTTCTGTGAACTGAGGTCTTAATATCAGCTCATTTTAAAAGTCTTT
GCAGTGGTATTCGGATCTATCCTGTGTGTGCCTATGAGATTGGGTGCAGTGTATCCTGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAG
CGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGTYTTTATATGRTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTRAG
GACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTAAATTGTTACATTTGAAGAATGTACTTCATAAATTTACAAAAATAAAAAAATA
GGTTAATGTTATTAAAACAAAAAGGCACACA

Protein Sequence    (SEQ ID NO:711):
MMRQRQSHYCSVLFLSVNYLGGTFPGDICSEENQIVSSYASKVCFEIEEDYKNRQFLGPEGNVDVELIDKSTNRYSVWFPTAGWYLWSATGLGFLVRDEV
TVTIAFGSWSQHLALDLQHHEQWLVGGPLFDVTAEPEEAVAEIHLPHFISLQGEVDVSWFLVAHFKNEGMVLEHPARVEPFYAVLESPSFSLMGILLRIA
SGTRLSIPITSNTLIYYHPHPEDIKFHLYLVPSDALLTKAIDDEEDRFHGVRLQTSPPMEPLNFGSSYIVSNSANLKVMPKELKLSYRSPGEIQHFSKFY
AGQMKEPIQLEITEKRHGTLVWDTEVKPVDLQLVAASAPPPFSGAAFVKENHRQLQARMGDLKGVLDDLQDNEVLTENEKELVEQEKTRQSKNEALLSMV
EKKGDLALDVLFRSISERDPYLVSYLRQQNL


SNP Information

Context             (SEQ ID NO:1685):
TGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGTCTTTATATG
R
TCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTAAGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTAAATTGTTAC
Celera SNP ID:            hCV1028673
SNP Position Transcript:  5057
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_A(A,0|G,84)   TSC_42_C(A,0|G,84)   TSC_42_AA(A,0|G,84)   total(G,252) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1686):
CTCATGAGAAGAGTAATCTGTTATGTTTTTCCAGATATTTACCATTTCTGTTGCTCTTCCTTCATTATTTTCCAAATTTCGTTCTGCAAATTTCCACTTC
Y
TCTGATAGACGTTTTTTAGTTCTTTTAGAGTGGTTCTGATAGGTACAGATTCTCTTATTTTTTGCTTCCTCTGAGGACATCTTTTTCTCACCTTCATTCT
Celera SNP ID:            hCV29332537
SNP Position Transcript:  2961
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1687):
TCTTGAAGACCCAGGATAAAGGACATCCGGATAGGTGTGTTTATGAAGGATGGGGCCTGGAAAGGCAACTTTTCCTGATTAATGTGAAAAATAATTCCTA
T
GGACACTCCGTTTGAAGTATCACCTTCTCATAACTAAAAGCAGAAAAGCTAACAAAAGCTTCTCAGCTGAGGACACTCAAGGCATACATGATGACAGTCT
Celera SNP ID:            hCV27064130
SNP Position Transcript:  1985
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,12)   total(T,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1688):
CTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCAAGCGATTATTGTGCCTCAGCCTCCTGAGTAGCTGG
R
ATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTTGCTATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTC
Celera SNP ID:            hCV1526327
SNP Position Transcript:  4140
SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,9)   total(G,9|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1689):
GATACTGAGGTGAAGCCAGTGGATCTCCAGCTTGTAGCTGCATCAGCCCCTCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCC
R
AGCCAGGATGGGGGACCTGAAAGGGGTGCTCGATGATCTCCAAGACAATGAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGG
Celera SNP ID:            hCV25952322
SNP Position Transcript:  1380
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,38)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 356, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:1690):
GACACCATCTGGTTGAGTCAGTTTTTTTTATGGTGTATTTTGAACCCATTCTGATAGTCTCTTTTAACTGGAAGATTTCAATTACTTACGTTAATGTAAT
K
ATTAATATGTTAGGATTTATCCTCAGTCAGCCAGTTTGTTATGTCTTTTCTATTCTACTGTTATCACATTTGTACCACTTAAAGTGGAATCTAGGCACTT
Celera SNP ID:            hCV2078231
SNP Position Transcript:  2626
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,5)      total(G,2|T,5) ;no_pop(G,-|T,-)   Caucasian(G,28|T,48)   African-American(G,29|T,41)   no_pop(T,-|G,-)   Asians(G,20|T,46)   total(G,77|T,135) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1691):
GTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTTTGGTCACTGTATGTATCAGTTCTAAAATTTCCATTTTGTTCTCTATATTTTAAATTTCTTG
S
CTTATATTCTATTTTCCTGCAAATGTGTCAGCATTTGCTTGTTTGAGCTTTTTTTTTTTCAAGACAGGGTCTCAACTCTGTTACCCAGGCTGGAGTGCAG
Celera SNP ID:            hCV8164309
SNP Position Transcript:  3962
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|G,9)      total(G,9|C,5) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1692):
AAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTTTGTGACATCTCAC
M
TTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTGTTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTG
Celera SNP ID:            hCV25636573
SNP Position Transcript:  299
SNP Source:               Applera
Population(Allele,Count): african american(A,36|C,2)   caucasian(A,40)   total(A,76|C,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:711, None



Context             (SEQ ID NO:1693):
TATGCTTTGCTACTCTAAACCTAGTTTGAAATCAACAGTCTTGAGAATAGATGAAAATTTTGATGAATAGTGGAATTCTTTTAAATGGAAACCTCTTACA
Y
GTGATTTTCCTTGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTATGTTTTGTTTTTTTCCTCCTCTTCTGAGACTCTTATTGTG
Celera SNP ID:            hCV27064129
SNP Position Transcript:  3618
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,6)      total(C,6|T,6) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1694):
CTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAGGGGACCTGGCCCTGGA
Y
GTGCTCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAGAATTTGTAAAATGAGTCAGTTAGGTAGTCTGGAAGAGAGA
Celera SNP ID:            hCV25953503
SNP Position Transcript:  1540
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:711, 409, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:711, 409, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1695):
CACCATGAACAGTGGCTGGTGGGCGGCCCCTTGTTTGATGTCACTGCAGAGCCAGAGGAGGCTGTCGCCGAAATCCACCTCCCCCACTTCATCTCCCTCC
R
AGGTGAGGTGGACGTCTCCTGGTTTCTCGTTGCCCATTTTAAGAATGAAGGGATGGTCCTGGAGCATCCAGCCCGGGTGGAGCCTTTCTATGCTGTCCTG
Celera SNP ID:            hCV25636592
SNP Position Transcript:  768
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 152, (Q,CAA)   (R,CGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 152, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:1696):
CTGCAGCCTCTGTCTCCCGGGCTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCAACACGCCCGGCTAATTTTTTTT
W
AAAAATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTTCCAAAGTGCTGG
Celera SNP ID:            hCV3218831
SNP Position Transcript:  4491
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|T,4)   total(A,2|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1697):
ATTCTACTTATTTAGAACATCTTTTCATTTTTTCCATTATTCTGATTGGGTAATTTTAATTTGTCTATTTTCAAATTTGCTGGAGTGTTCACCTGTTGTT
R
TCTGTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTTTGGTCACTGTATGTATCAGTTCTAAAATTTCCATTTTGTTCTCTATATTTTAAATTTC
Celera SNP ID:            hCV3218832
SNP Position Transcript:  3858
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,9)   total(G,2|A,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1698):
AGTGTATCCTGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGT
Y
TTTATATGCTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTAAGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTA
Celera SNP ID:            hCV8832758
SNP Position Transcript:  5048
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   TSC_42_T(T,0|C,84)   TSC_42_C(T,0|C,84)   TSC_42_TT(T,0|C,84)   total(C,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1699):
TCTGAGGACATCTTTTTCTCACCTTCATTCTCAGTGATGTTTTTTGCTTGTAGTATTTTTAGTTGACATTGTTTTCTGTTCAGCAGTTTCCTTTTAGCTT
M
CGTATTTCCTGATGAGAAATCTGCAGTCATTCAAATTGTTGTTTCCCTGTATGTAGTGTGTCATTTTTCTGTCAGATTTCAAGGTATTTATCTTTAGTTT
Celera SNP ID:            hCV3218833
SNP Position Transcript:  3131
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,5)      total(A,4|C,5) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1700):
CAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGTCTTTATATGCTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGT
R
AGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTAAATTGTTACATTTGAAGAATGTACTTCATAAATTTACAAAAATAAAAAAA
Celera SNP ID:            hCV3218826
SNP Position Transcript:  5098
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2) ;ASG_42_A(G,34|A,49)   ASG_42_G(G,34|A,49)   total(G,68|A,98)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1701):
GAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAGGGGACCTGGCCCTGGACGTG
S
TCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAGAATTTGTAAAATGAGTCAGTTAGGTAGTCTGGAAGAGAGAATCC
Celera SNP ID:            hCV25953508
SNP Position Transcript:  1544
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,38)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 411, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:1702):
AATAGTTTCCTCTTATGCTTCTAAAGTCTGTTTTGAGATCGAAGAAGATTATAAAAATCGTCAGTTTCTGGGGCCTGAAGGAAATGTGGATGTTGAGTTG
R
TTGATAAGAGCACAAACAGATACAGCGTTTGGTTCCCCACTGCTGGCTGGTATCTGTGGTCAGCCACAGGCCTCGGCTTCCTGGTAAGGGATGAGGTCAC
Celera SNP ID:            hCV2078249
SNP Position Transcript:  515
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,12)   total(G,1|A,12) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 68, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1703):
CAGCCCCTCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCCAAGCCAGGATGGGGGACCTGAAAGGGGTGCTCGATGATCTCCA
R
GACAATGAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAG
Celera SNP ID:            hCV3218834
SNP Position Transcript:  1423
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,16|G,22)   total(A,41|G,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:711, 370, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;JBIC-allele(G,434|A,1031)   total(G,434|A,1031)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:711, 370, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1704):
TATTCAGTGTTTGGTGTCCACTGAGTTGTCATTTGCCAGACAAGTGGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGATATGTACCCTCGA
M
ATGTGAATGTTATCTTATGAGACTCTGTTTTATTTGTATCCAACAGAAGATGTTTATTATTTATTTGGCTTTCTGTGAACTGAGGTCTTAATATCAGCTC
Celera SNP ID:            hCV3218827
SNP Position Transcript:  4785
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1705):
TCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTCATTTGAGTATTTTTATAATGTCTCTTTTAAAGTCTTTGTCAGATAATT
Y
CACTGTACATGTTATTCAGTGTTTGGTGTCCACTGAGTTGTCATTTGCCAGACAAGTGGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGAT
Celera SNP ID:            hCV3218828
SNP Position Transcript:  4672
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1706):
GAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTTTGTGACATCTCACATTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTG
W
TCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTGCTCAGAAGAGAATCAAATAGTTTCCTCTTATGCTTCTAAAGTCT
Celera SNP ID:            hCV11708080
SNP Position Transcript:  343
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,28)   caucasian(A,12|T,28)   total(A,22|T,56)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 10, (X,TGA)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|T,11)      total(A,6|T,11) ;no_pop(T,-|A,-)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:711, 10, (X,TGA)   (C,TGT)      



Context             (SEQ ID NO:1707):
GGGTCTCAACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCAAGCGATTATTGTGCCTCAGCCTCC
W
GAGTAGCTGGGATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTTGCTATGTTGGCCAGGCTGGTTTTGAA
Celera SNP ID:            hCV1731026
SNP Position Transcript:  4129
SNP Source:               Celera
Population(Allele,Count): no_pop(A,5|T,7)   total(A,5|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1708):
ATGAATAGTGGAATTCTTTTAAATGGAAACCTCTTACACGTGATTTTCCTTGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTAT
R
TTTTGTTTTTTTCCTCCTCTTCTGAGACTCTTATTGTGGAAATGTTAGACTTTTATGTTTTCCTAAATGTCCCTGATATTCTACTTATTTAGAACATCTT
Celera SNP ID:            hCV1731027
SNP Position Transcript:  3680
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,6)      total(G,6|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:711, None   



Context             (SEQ ID NO:1709):
GACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCT
Y
TGTGACATCTCACATTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTGTTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTC
Celera SNP ID:            hCV15879957
SNP Position Transcript:  285
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,18|T,22)   total(C,24|T,54)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:711, None

SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,31)   caucasian(C,15|T,21)   total(C,20|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:711, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,397|T,1096)   total(C,397|T,1096)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:711, None   



Gene Number:                 5
Celera Gene:                 hCG15257 - 116000144873091
Celera Transcript:           hCT1771165 - 116000144873106
Public Transcript Accession: NM_014959
Celera Protein:              hCP1727371 - 197000069371878
Public Protein Accession:    NP_055774
Gene Symbol:                 TUCAN
Protein Name:                tumor up-regulated CARD-containing antagonist of caspase nine;CARD8;CARDINAL;DACAR;KIAA0955;NDPP1
Celera Genomic Axis:         GA_x5YUV32VSLL(249927..297759)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:15):
TTATTTCAAAAGAAGTTGAGACCCAGAGAAACCGACCTAAGGGGATTCTCCCATTTGGCCCGTCCTCCCCTAAAGTCACCACCTGCTGCTTTTCTGGAGC
GCTTACCAGTGACCAAGAGGAACAGAACACAGAGCAGCCTGGCAGTGTCCAAGCARCAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACT
CACATGAGAAGGAGGGCTGTCTGAGATTCGAGGGAAACAAGCTCTCAGGACTTCCGGTCGCCATGATGGCTGTGGGCGGTAAACGCGGTTAGTGCAAGCA
TCTGGGCCATCTTCAATGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTG
AGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTYTGTGACATCTCACMTTTTTTCCAAGAAGATGATGAGACAGAGGC
AGAGCCATTATTGWTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTGCTCAGAAGAGAATCAAATAGTTTCCTCTTA
TGCTTCTAAAGTCTGTTTTGAGATCGAAGAAGATTATAAAAATCGTCAGTTTCTGGGGCCTGAAGGAAATGTGGATGTTGAGTTGRTTGATAAGAGCACA
AACAGATACAGCGTTTGGTTCCCCACTGCTGGCTGGTATCTGTGGTCAGCCACAGGCCTCGGCTTCCTGGTAAGGGATGAGGTCACAGTGACGATTGCGT
TTGGTTCCTGGAGTCAGCACCTGGCCCTGGACCTGCAGCACCATGAACAGTGGCTGGTGGGCGGCCCCTTGTTTGATGTCACTGCAGAGCCAGAGGAGGC
TGTCGCCGAAATCCACCTCCCCCACTTCATCTCCCTCCRAGGTGAGGTGGACGTCTCCTGGTTTCTCGTTGCCCATTTTAAGAATGAAGGGATGGTCCTG
GAGCATCCAGCCCGGGTGGAGCCTTTCTATGCTGTCCTGGAAAGCCCCAGCTTCTCTCTGATGGGCATCCTGCTGCGGATCGCCAGTGGGACTCGCCTCT
CCATCCCCATCACTTCCAACACATTGATCTATTATCACCCCCACCCCGAAGATATTAAGTTCCACTTGTACCTTGTCCCCAGCGACGCCTTGCTAACAAA
GGCGATAGATGATGAGGAAGATCGCTTCCATGGTGTGCGCCTGCAGACTTCGCCCCCAATGGAACCCCTGAACTTTGGTTCCAGTTATATTGTGTCTAAT
TCTGCTAACCTGAAAGTAATGCCCAAGGAGTTGAAATTGTCCTACAGGAGCCCTGGAGAAATTCAGCACTTCTCAAAATTCTATGCTGGGCAGATGAAGG
AACCCATTCAACTTGAGATTACTGAAAAAAGACATGGGACTTTGGTGTGGGATACTGAGGTGAAGCCAGTGGATCTCCAGCTTGTAGCTGCATCAGCCCC
TCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCCRAGCCAGGATGGGGGACCTGAAAGGGGTGCTCGATGATCTCCARGACAAT
GAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAGGGGACC
TGGCCCTGGAYGTGSTCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAGAATTTGTAAAATGAGTCAGTTAGGTAGTC
TGGAAGAGAGAATCCAGCGTTCTCATTGGAAATGGATAAACAGAAATGTGATCATTGATTTCAGTGTTCAAGACAGAAGAAGACTGGGTAACATCTATCA
CACAGGCTTTCAGGACAGACTTGTAACCTGGCATGTACCTATTGACTGTATCCTCATGCATTTTCCTCAAGAATGTCTGAAGAAGGTAGTAATATTCCTT
TTAAATTTTTTCCAACCATTGCTTGATATATCACTATTTTATCCATTGACATGATTCTTGAAGACCCAGGATAAAGGACATCCGGATAGGTGTGTTTATG
AAGGATGGGGCCTGGAAAGGCAACTTTTCCTGATTAATGTGAAAAATAATTCCTATGGACACTCCGTTTGAAGTATCACCTTCTCATAACTAAAAGCAGA
AAAGCTAACAAAAGCTTCTCAGCTGAGGACACTCAAGGCATACATGATGACAGTCTTTTTTTTTTTTGTATGTTAGGACTTTAACACTTTATCTATGGCT
ACTGTTATTAGAACAATGTAAATGTATTTGCTGAAAGAGAGCACAAAAATGGGAGAAAATGCAAACATGAGCAGAAAATATTTTCCCACTGGTGTGTAGC
CTGCTACAAGGAGTTGTTGGGTTAAATGTTCATGGTCAACTCCAAGGAATACTGAGATGAAATGTGGTAAATCAACTCCACAGAACCACCAAAAAGAAAA
TGAGGGTAATTCAGCTTATTCTGAGACAGACATTCCTGGCAATGTACCATACAAAAAATAAGCCAACTCTGACATTTGGATTCTACCATAGACTCTGTCA
TTTTGTAGCCATTTCAGCTGTCTTTTGATTAATGTTTTCGTGGCACACATATTTCCATCCTTTTATGTTTAATCTGTTTAAAACAAGTTCCTAGTAGACA
CCATCTGGTTGAGTCAGTTTTTTTTATGGTGTATTTTGAACCCATTCTGATAGTCTCTTTTAACTGGAAGATTTCAATTACTTACGTTAATGTAATKATT
AATATGTTAGGATTTATCCTCAGTCAGCCAGTTTGTTATGTCTTTTCTATTCTACTGTTATCACATTTGTACCACTTAAAGTGGAATCTAGGCACTTTAT
CACCATTTAGATCCTATTACCTTTTCTCATCTAGGATATAGTTATCTTCTACATAATCTTTCTGTATCTTAAAACCCATCAATAAATTATTATATATTTT
CTACTTTTAATCACTCAGAAGATTTAAAAAACTCATGAGAAGAGTAATCTGTTATGTTTTTCCAGATATTTACCATTTCTGTTGCTCTTCCTTCATTATT
TTCCAAATTTCGTTCTGCAAATTTCCACTTCYTCTGATAGACGTTTTTTAGTTCTTTTAGAGTGGTTCTGATAGGTACAGATTCTCTTATTTTTTGCTTC
CTCTGAGGACATCTTTTTCTCACCTTCATTCTCAGTGATGTTTTTTGCTTGTAGTATTTTTAGTTGACATTGTTTTCTGTTCAGCAGTTTCCTTTTAGCT
TMCGTATTTCCTGATGAGAAATCTGCAGTCATTCAAATTGTTGTTTCCCTGTATGTAGTGTGTCATTTTTCTGTCAGATTTCAAGGTATTTATCTTTAGT
TTTTAGCCATTTCATTATGTTGGGGATGAGTTTCCTTGTTTTATTCCCTTTGGAATTTGCTCCAATTCATAAATTTGCAGTTTTATGTCTTTTACCAAAC
TTAGAGGTTTTCAGCCTAATTTCTAAAAATACTTTTTATTAGCCTGATTTTCATCTTTATAGGAAATAGTTTAAGTGATGACAAGTTCCAATAGCTTATA
TGCCCAGAAGGCCTTCAAAATAAGAATTTTGAAAGAATACAGAAAACAAACTTTTATATCCTTCTCATGTCTTCTACTGTAAAATTCATATGCTTTGCTA
CTCTAAACCTAGTTTGAAATCAACAGTCTTGAGAATAGATGAAAATTTTGATGAATAGTGGAATTCTTTTAAATGGAAACCTCTTACAYGTGATTTTCCT
TGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTATRTTTTGTTTTTTTCCTCCTCTTCTGAGACTCTTATTGTGGAAATGTTAGA
CTTTTATGTTTTCCTAAATGTCCCTGATATTCTACTTATTTAGAACATCTTTTCATTTTTTCCATTATTCTGATTGGGTAATTTTAATTTGTCTATTTTC
AAATTTGCTGGAGTGTTCACCTGTTGTTRTCTGTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTTTGGTCACTGTATGTATCAGTTCTAAAATT
TCCATTTTGTTCTCTATATTTTAAATTTCTTGSCTTATATTCTATTTTCCTGCAAATGTGTCAGCATTTGCTTGTTTGAGCTTTTTTTTTTTCAAGACAG
GGTCTCAACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCAAGCGATTATTGTGCCTCAGCCTCCW
GAGTAGCTGGRATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTTGCTATGTTGGCCAGGCTGGTTTTGAA
CTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTACACCTGGCACATTTGAGTATTTTTTTTTTTTTTTTTTT
TTTTGAGATGGAGTCTCGCTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGTCTCCCGGGCTCAAGCGATTCTCTTGC
CTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCAACACGCCCGGCTAATTTTTTTTWAAAAATATTTTTAGTAGAGACAGGGTTTCACCATTTTG
GCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTCATTTGA
GTATTTTTATAATGTCTCTTTTAAAGTCTTTGTCAGATAATTYCACTGTACATGTTATTCAGTGTTTGGTGTCCACTGAGTTGTCATTTGCCAGACAAGT
GGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGATATGTACCCTCGAMATGTGAATGTTATCTTATGAGACTCTGTTTTATTTGTATCCAAC
AGAAGATGTTTATTATTTATTTGGCTTTCTGTGAACTGAGGTCTTAATATCAGCTCATTTTAAAAGTCTTTGCAGTGGTATTCGGATCTATCCTGTGTGT
GCCTATGAGATTGGGTGCAGTGTATCCTGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAGCGCAATGAATGCTCAAGTTGGGGTTGGGC
GTTAGAATTCATAAAAGTYTTTATATGRTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTRAGGACAGTGGAATTTTGCAGTTGTCTATACC
TTATCTTGAAGTAGAACTAAATTGTTACATTTGAAGAATGTACTTCATAAATTTACAAAAATAAAAAAATAGGTTAATGTTATTAAAACAAAAAGGCACA
CA

Protein Sequence    (SEQ ID NO:712):
MMRQRQSHYCSVLFLSVNYLGGTFPGDICSEENQIVSSYASKVCFEIEEDYKNRQFLGPEGNVDVELIDKSTNRYSVWFPTAGWYLWSATGLGFLVRDEV
TVTIAFGSWSQHLALDLQHHEQWLVGGPLFDVTAEPEEAVAEIHLPHFISLQGEVDVSWFLVAHFKNEGMVLEHPARVEPFYAVLESPSFSLMGILLRIA
SGTRLSIPITSNTLIYYHPHPEDIKFHLYLVPSDALLTKAIDDEEDRFHGVRLQTSPPMEPLNFGSSYIVSNSANLKVMPKELKLSYRSPGEIQHFSKFY
AGQMKEPIQLEITEKRHGTLVWDTEVKPVDLQLVAASAPPPFSGAAFVKENHRQLQARMGDLKGVLDDLQDNEVLTENEKELVEQEKTRQSKNEALLSMV
EKKGDLALDVLFRSISERDPYLVSYLRQQNL


SNP Information

Context             (SEQ ID NO:1710):
TGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGTCTTTATATG
R
TCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTAAGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTAAATTGTTAC
Celera SNP ID:            hCV1028673
SNP Position Transcript:  5228
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_A(A,0|G,84)   TSC_42_C(A,0|G,84)   TSC_42_AA(A,0|G,84)   total(G,252) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1711):
CTCATGAGAAGAGTAATCTGTTATGTTTTTCCAGATATTTACCATTTCTGTTGCTCTTCCTTCATTATTTTCCAAATTTCGTTCTGCAAATTTCCACTTC
Y
TCTGATAGACGTTTTTTAGTTCTTTTAGAGTGGTTCTGATAGGTACAGATTCTCTTATTTTTTGCTTCCTCTGAGGACATCTTTTTCTCACCTTCATTCT
Celera SNP ID:            hCV29332537
SNP Position Transcript:  3132
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1712):
TCTTGAAGACCCAGGATAAAGGACATCCGGATAGGTGTGTTTATGAAGGATGGGGCCTGGAAAGGCAACTTTTCCTGATTAATGTGAAAAATAATTCCTA
T
GGACACTCCGTTTGAAGTATCACCTTCTCATAACTAAAAGCAGAAAAGCTAACAAAAGCTTCTCAGCTGAGGACACTCAAGGCATACATGATGACAGTCT
Celera SNP ID:            hCV27064130
SNP Position Transcript:  2156
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,12)   total(T,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1713):
CTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCAAGCGATTATTGTGCCTCAGCCTCCTGAGTAGCTGG
R
ATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTTGCTATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTC
Celera SNP ID:            hCV1526327
SNP Position Transcript:  4311
SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,9)   total(G,9|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1714):
GATACTGAGGTGAAGCCAGTGGATCTCCAGCTTGTAGCTGCATCAGCCCCTCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCC
R
AGCCAGGATGGGGGACCTGAAAGGGGTGCTCGATGATCTCCAAGACAATGAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGG
Celera SNP ID:            hCV25952322
SNP Position Transcript:  1551
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,38)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 356, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:1715):
GACACCATCTGGTTGAGTCAGTTTTTTTTATGGTGTATTTTGAACCCATTCTGATAGTCTCTTTTAACTGGAAGATTTCAATTACTTACGTTAATGTAAT
K
ATTAATATGTTAGGATTTATCCTCAGTCAGCCAGTTTGTTATGTCTTTTCTATTCTACTGTTATCACATTTGTACCACTTAAAGTGGAATCTAGGCACTT
Celera SNP ID:            hCV2078231
SNP Position Transcript:  2797
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,5)      total(G,2|T,5) ;no_pop(G,-|T,-)   Caucasian(G,28|T,48)   African-American(G,29|T,41)   no_pop(T,-|G,-)   Asians(G,20|T,46)   total(G,77|T,135) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1716):
GTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTTTGGTCACTGTATGTATCAGTTCTAAAATTTCCATTTTGTTCTCTATATTTTAAATTTCTTG
S
CTTATATTCTATTTTCCTGCAAATGTGTCAGCATTTGCTTGTTTGAGCTTTTTTTTTTTCAAGACAGGGTCTCAACTCTGTTACCCAGGCTGGAGTGCAG
Celera SNP ID:            hCV8164309
SNP Position Transcript:  4133
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|G,9)      total(G,9|C,5) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1717):
AAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTTTGTGACATCTCAC
M
TTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTGTTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTG
Celera SNP ID:            hCV25636573
SNP Position Transcript:  470
SNP Source:               Applera
Population(Allele,Count): african american(A,36|C,2)   caucasian(A,40)   total(A,76|C,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:712, None



Context             (SEQ ID NO:1718):
TATGCTTTGCTACTCTAAACCTAGTTTGAAATCAACAGTCTTGAGAATAGATGAAAATTTTGATGAATAGTGGAATTCTTTTAAATGGAAACCTCTTACA
Y
GTGATTTTCCTTGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTATGTTTTGTTTTTTTCCTCCTCTTCTGAGACTCTTATTGTG
Celera SNP ID:            hCV27064129
SNP Position Transcript:  3789
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,6)      total(C,6|T,6) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1719):
CTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAGGGGACCTGGCCCTGGA
Y
GTGCTCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAGAATTTGTAAAATGAGTCAGTTAGGTAGTCTGGAAGAGAGA
Celera SNP ID:            hCV25953503
SNP Position Transcript:  1711
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:712, 409, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:712, 409, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1720):
CACCATGAACAGTGGCTGGTGGGCGGCCCCTTGTTTGATGTCACTGCAGAGCCAGAGGAGGCTGTCGCCGAAATCCACCTCCCCCACTTCATCTCCCTCC
R
AGGTGAGGTGGACGTCTCCTGGTTTCTCGTTGCCCATTTTAAGAATGAAGGGATGGTCCTGGAGCATCCAGCCCGGGTGGAGCCTTTCTATGCTGTCCTG
Celera SNP ID:            hCV25636592
SNP Position Transcript:  939
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 152, (Q,CAA)   (R,CGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 152, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:1721):
CTGCAGCCTCTGTCTCCCGGGCTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCAACACGCCCGGCTAATTTTTTTT
W
AAAAATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTTCCAAAGTGCTGG
Celera SNP ID:            hCV3218831
SNP Position Transcript:  4662
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|T,4)   total(A,2|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1722):
ATTCTACTTATTTAGAACATCTTTTCATTTTTTCCATTATTCTGATTGGGTAATTTTAATTTGTCTATTTTCAAATTTGCTGGAGTGTTCACCTGTTGTT
R
TCTGTGTCGTCCCACTGAGTGCATTCACCACCTTTTAAATTTTGGTCACTGTATGTATCAGTTCTAAAATTTCCATTTTGTTCTCTATATTTTAAATTTC
Celera SNP ID:            hCV3218832
SNP Position Transcript:  4029
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,9)   total(G,2|A,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1723):
AGTGTATCCTGTTAGCTCCATTCTCAGGGCGTTTGAATGTGAATTAGGACCAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGT
Y
TTTATATGCTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGTAAGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTA
Celera SNP ID:            hCV8832758
SNP Position Transcript:  5219
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   TSC_42_T(T,0|C,84)   TSC_42_C(T,0|C,84)   TSC_42_TT(T,0|C,84)   total(C,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1724):
TCTGAGGACATCTTTTTCTCACCTTCATTCTCAGTGATGTTTTTTGCTTGTAGTATTTTTAGTTGACATTGTTTTCTGTTCAGCAGTTTCCTTTTAGCTT
M
CGTATTTCCTGATGAGAAATCTGCAGTCATTCAAATTGTTGTTTCCCTGTATGTAGTGTGTCATTTTTCTGTCAGATTTCAAGGTATTTATCTTTAGTTT
Celera SNP ID:            hCV3218833
SNP Position Transcript:  3302
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,5)      total(A,4|C,5) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1725):
CAGCGCAATGAATGCTCAAGTTGGGGTTGGGCGTTAGAATTCATAAAAGTCTTTATATGCTCAGATTCTGCAGCTCCATCCTCTTCATGATTGTGATCGT
R
AGGACAGTGGAATTTTGCAGTTGTCTATACCTTATCTTGAAGTAGAACTAAATTGTTACATTTGAAGAATGTACTTCATAAATTTACAAAAATAAAAAAA
Celera SNP ID:            hCV3218826
SNP Position Transcript:  5269
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2) ;ASG_42_A(G,34|A,49)   ASG_42_G(G,34|A,49)   total(G,68|A,98)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1726):
TGGCCCGTCCTCCCCTAAAGTCACCACCTGCTGCTTTTCTGGAGCGCTTACCAGTGACCAAGAGGAACAGAACACAGAGCAGCCTGGCAGTGTCCAAGCA
R
CAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACTCACATGAGAAGGAGGGCTGTCTGAGATTCGAGGGAAACAAGCTCTCAGGACTTCCG
Celera SNP ID:            hCV11464243
SNP Position Transcript:  156
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1727):
GAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAGGGGACCTGGCCCTGGACGTG
S
TCTTCAGAAGCATTAGTGAAAGGGACCCTTACCTCGTGTCCTATCTTAGACAGCAGAATTTGTAAAATGAGTCAGTTAGGTAGTCTGGAAGAGAGAATCC
Celera SNP ID:            hCV25953508
SNP Position Transcript:  1715
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,38)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 411, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:1728):
AATAGTTTCCTCTTATGCTTCTAAAGTCTGTTTTGAGATCGAAGAAGATTATAAAAATCGTCAGTTTCTGGGGCCTGAAGGAAATGTGGATGTTGAGTTG
R
TTGATAAGAGCACAAACAGATACAGCGTTTGGTTCCCCACTGCTGGCTGGTATCTGTGGTCAGCCACAGGCCTCGGCTTCCTGGTAAGGGATGAGGTCAC
Celera SNP ID:            hCV2078249
SNP Position Transcript:  686
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,12)   total(G,1|A,12) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 68, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1729):
CAGCCCCTCCTCCTTTCTCAGGTGCAGCCTTTGTGAAGGAGAACCACCGGCAACTCCAAGCCAGGATGGGGGACCTGAAAGGGGTGCTCGATGATCTCCA
R
GACAATGAGGTTCTTACTGAGAATGAGAAGGAGCTGGTGGAGCAGGAAAAGACACGGCAGAGCAAGAATGAGGCCTTGCTGAGCATGGTGGAGAAGAAAG
Celera SNP ID:            hCV3218834
SNP Position Transcript:  1594
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,16|G,22)   total(A,41|G,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:712, 370, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;JBIC-allele(G,434|A,1031)   total(G,434|A,1031)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:712, 370, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:1730):
TATTCAGTGTTTGGTGTCCACTGAGTTGTCATTTGCCAGACAAGTGGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGATATGTACCCTCGA
M
ATGTGAATGTTATCTTATGAGACTCTGTTTTATTTGTATCCAACAGAAGATGTTTATTATTTATTTGGCTTTCTGTGAACTGAGGTCTTAATATCAGCTC
Celera SNP ID:            hCV3218827
SNP Position Transcript:  4956
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1731):
TCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTCATTTGAGTATTTTTATAATGTCTCTTTTAAAGTCTTTGTCAGATAATT
Y
CACTGTACATGTTATTCAGTGTTTGGTGTCCACTGAGTTGTCATTTGCCAGACAAGTGGAGATTTTTGCAGCTCATCCTTGTATTCTCAGTAGTTCCGAT
Celera SNP ID:            hCV3218828
SNP Position Transcript:  4843
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1732):
GAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCTTTGTGACATCTCACATTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTG
W
TCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTCCCAGGAGACATTTGCTCAGAAGAGAATCAAATAGTTTCCTCTTATGCTTCTAAAGTCT
Celera SNP ID:            hCV11708080
SNP Position Transcript:  514
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,28)   caucasian(A,12|T,28)   total(A,22|T,56)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 10, (X,TGA)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|T,11)      total(A,6|T,11) ;no_pop(T,-|A,-)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:712, 10, (X,TGA)   (C,TGT)      



Context             (SEQ ID NO:1733):
GGGTCTCAACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCAAGCGATTATTGTGCCTCAGCCTCC
W
GAGTAGCTGGGATTACAGGCATGCACCACCACAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTTGCTATGTTGGCCAGGCTGGTTTTGAA
Celera SNP ID:            hCV1731026
SNP Position Transcript:  4300
SNP Source:               Celera
Population(Allele,Count): no_pop(A,5|T,7)   total(A,5|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1734):
ATGAATAGTGGAATTCTTTTAAATGGAAACCTCTTACACGTGATTTTCCTTGCCATCTAGAAATAAACCATAGTATTTATGTTGAATCAATCAATATTAT
R
TTTTGTTTTTTTCCTCCTCTTCTGAGACTCTTATTGTGGAAATGTTAGACTTTTATGTTTTCCTAAATGTCCCTGATATTCTACTTATTTAGAACATCTT
Celera SNP ID:            hCV1731027
SNP Position Transcript:  3851
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,6)      total(G,6|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:712, None   



Context             (SEQ ID NO:1735):
GACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGGGTATACAGGGAGCTACCCTGTGTTTCTGAGACCCT
Y
TGTGACATCTCACATTTTTTCCAAGAAGATGATGAGACAGAGGCAGAGCCATTATTGTTCCGTGCTGTTCCTGAGTGTCAACTATCTGGGGGGGACATTC
Celera SNP ID:            hCV15879957
SNP Position Transcript:  456
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,18|T,22)   total(C,24|T,54)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:712, None

SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,31)   caucasian(C,15|T,21)   total(C,20|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:712, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,397|T,1096)   total(C,397|T,1096)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:712, None   



Gene Number:                 6
Celera Gene:                 hCG15674 - 146000220871181
Celera Transcript:           hCT6699 - 146000220871182
Public Transcript Accession: NM_012421
Celera Protein:              hCP34668 - 197000064953139
Public Protein Accession:    NP_036553
Gene Symbol:                 RLF
Protein Name:                rearranged L-myc fusion sequence
Celera Genomic Axis:         GA_x5YUV32W802(42895949..42975520)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:16):
TGCCTACGCGCTGGTGGGCCGTGGGAAGATGGCGGACGGAAAGGGAGACGCCGCCGCTGTCGCCGGGGCTGGGGCTGAGGCTCCGGCGGTAGCGGGAGCC
GGAGATGGAGTCGAGACTGAGTCCATGGTTCGGGGTCATCGCCCCGTATCTCCAGCGCCGGGAGCCTCGGGACTGCGGCCGTGTCTGTGGCAGCTGGAGA
CAGAGCTGAGGGAGCAAGAGGTGTCGGAGGTCTCATCTTTGAACTACTGCCGGAGCTTCTGCCAGACCTTATTGCAATATGCAAGCAACAAGAATGCATC
AGAACATATTGTGTATCTTCTGGAGGTATATCGACTTGCCATCCAAAGCTTTGCCAGTGCACGTCCATACTTAACTACTGAATGTGAAGATGTCCTCTTA
GTGCTTGGCAGATTAGTACTGAGTTGTTTCGAATTACTGCTTTCAGTGTCTGAAAGTGAACTGCCATGTGAAGTCTGGCTACCATTCCTTCAGTCTCTAC
AGGAGTCACATGATGCATTATTGGAATTTGGGAATAATAACCTACAAATATTGGTTCATGTYACCAAGGAAGGGGTGTGGAAAAACCCAGTTCTTCTTAA
AATTCTGTCTCAACAGCCAGTAGAAACGGAGGAAGTCAATAAATTGATTGCACAAGAAGGACCTTCCTTTCTGCAAATGCGAATAAAACATTTGTTGAAA
TCTAACTGCATCCCCCAGGCTACTGCTTTATCAAAACTATGTGCAGAATCTAAAGAAATTTCAAATGTGTCATCTTTTCAGCAAGCCTATATCACATGTT
TATGTTCTATGCTCCCTAATGAAGATGCTATTAAGGAGATTGCAAAGGTCGACTGCAAGGAAGTACTAGACATCATTTGTAATCTGGAATCTGAGGGGCA
GGATAACACAGCATTTGTTCTTTGTACGACTTACCTTACCCAGCAGCTCCAAACTGCAAGTGTATATTGTTCTTGGGAACTGACTCTTTTTTGGAGTAAA
CTGCAAAGAAGAATTGACCCTTCTTTAGATACTTTTTTGGAGCGCTGTCGTCAGTTTGGTGTCATAGCTAAAACGCAGCAGCATTTATTTTGCCTCATTA
GAGTTATACAAACTGAAGCACAAGATGCTGGTCTTGGGGTGTCAATTTTACTGTGTGTCAGAGCTCTTCAACTCAGATCAAGTGAAGATGAGGAAATGAA
GGCATCAGTTTGTAAAACAATTGCCTGTCTTTTACCAGAAGATTTAGAAGTTAGACGAGCCTGTCAGCTTACAGAATTCTTAATTGAACCCAGTTTGGAT
GGATTTAATATGTTAGAAGAACTATATTTGCAACCAGATCAAAAATTTGATGAAGAAAATGCACCGGTTCCAAATTCTCTTCGATGTGAGCTCTTACTAG
CTTTAAAAGCCCACTGGCCTTTTGATCCTGAGTTTTGGGACTGGAAAACTTTAAAACGACACTGCCACCAACTTTTAGGACAAGAAGCCTCAGATTCTGA
TGATGATTTAAGTGGCTATGAAATGTCCATTAATGACACAGATGTTTTAGAGTCATTTCTCAGTGACTATGATGAGGGTAAAGAAGATAAACAATATAGA
AGAAGAGATTTGACAGATCAGCATAAGGAGAAAAGAGACAAAAAACCTATTGGCTCTTCTGAAAGATATCAGAGGTGGCTTCAGTACAAGTTTTTCTGTT
TGTTATGTAAGCGGGAATGTATAGAGGCTAGAATTCTTCATCATTYTAAGATGCATATGGAAGATGGAATTTACACCTGTCCAGTTTGTATTAAAAAATT
TAAGAGAAAAGAAATGTTTGTTCCTCATGTGATGGAGCATGTTAAAATGCCACCAAGCAGAAGGGACCGCTCTAAAAAGAAATTRCTGTTAAAAGGCTCT
CAAAAGGGTATTTGTCCTAAGAGCCCCTCTGCAATCCCAGAGCAAAACCATTCATTGAATGACCAAGCCAAAGGAGAGTCTCATGAATATGTCACRTTCA
GCAAATTAGAAGATTGCCACCTGCAAGACARAGATTTGTATCCATGTCCCGGTACAGACTGTTCCCGTGTGTTTAAGCAATTTAAATACTTAAGTGTGCA
TCTTAAAGCTGAACACCAAAATAATGATGAAAATGCCAAGCACTACTTGGATATGAAAAATAGAAGAGAGAAGTGTACTTACTGTCGACGACATTTTATG
TCTGCTTTTCACCTTCGAGAGCAYGAACAAGTGCATTGTGGGCCTCAGCCTTATATGTGTGTATCTATAGATTGCTATGCTAGGTTTGGATCAGTAAATG
AACTACTTAACCATAAACAAAAGCATGACGATCTGCGTTACAAATGTGAATTAAATGGCTGTAATATTGTTTTCAGTGACTTGGGACAGCTTTACCACCA
TGAAGCACAACACTTTAGGGATGCATCTTACACATGCAACTTCCTTGGCTGTAAAAAGTTCTATTACTCCAAAATTGAATACCAGAATCACCTCTCAATG
CATAATGTTGAAAATTCAAATGGAGACATAAAGAAATCAGTGAAACTTGAGGAGTCTGCAACAGGTGAAAAGCAAGATTGTATTAATCAGCCCCATCTAC
TTAACCAAACTGATAAATCACATTTACCTGAAGATCTTTTCTGTGCAGAATCAGCTAATTCTCAAATAGATACAGAAACTGCAGAAAACCTGAAAGAAAA
CAGTGACAGTAATTCTAGTGATCAGTTAAGTCATAGCTCTTCAGCTTCAATGAATGAAGAGCTAATTGACACACTAGATCACTCTGAAACTATGCAGGAT
GTATTGTTATCTAATGAGAAAGYCTTTGGGCCCTCCAGTTTAAAAGAAAAATGTTCCAGTATGGCAGTTTGTTTTGACGGGACTAAGTTTACCTGTGRTT
TTGATGGCTGTGGTTCCACATACAAAAATGCAAGAGGAATGCAGAAACATTTACGGAAGGTTCATCCATACCATTTCAAGCCCAAAAAGATAAAGACGAA
AGATCTGTTTCCCTCTTTGGGTAATGAACATAATCAGACAACTGAAAAGTTGGATGCAGAACCTAAACCCTGCTCAGATACAAACAGTGACTCYCCAGAT
GAAGGTCTAGATCACAATATTCACATTAAATGTAAACGAGAACATCAAGGTTATTCCTCAGAATCCTCCATTTGTGCTTCTAAAAGGCCCTGTACAGAGG
ATACCATGTTGGAACTTCTGTTACGCTTGAAACATTTAAGCTTGAAAAACTCAATAACACATGGATCTTTCTCAGGGTCATTGCAGGGGTACCCATCCAG
TGGTGCTAAGTCTCTTCAGTCAGTTTCATCTATCTCAGACCTTAATTTTCAGAATCAAGATGAAAACATGCCAAGTCAGTACCTTGCACAGTTGGCGGCT
AAGCCGTTTTTCTGTGAGCTTCAAGGATGCAAATATGAATTTGTGACCAGAGAGGCTCTGTTAATGCATTATCTTAAAAAGCATAATTATTCAAAAGAAA
AAGTCCTTCAGTTAACCATGTTCCAACATCGGTATTCCCCATTTCAGTGTCATATTTGCCAAAGGTCATTTACAAGAAAAACACACCTTAGGATTCATTA
TAAAAATAAACATCAAATTGGCAGTGACAGAGCAACTCACAAACTATTAGATAATGAAAAGTGTGATCATGAAGGCCCATGTTCAGTAGATAGGTTGAAA
GGTGATTGTTCTGCAGAACTTGGAGGTGATCCCAGTAGTAACTCTGAGAAACCACACTGTCATCCTAAAAAGGATGAATGTAGTTCTGAAACAGATTTGG
AATCATCTTGTGAAGAAACAGAAAGTAAAACATCTGACATTTCATCACCAATAGGCAGCCATAGAGAAGAACAAGAAGGAAGAGAGGGCAGAGGTAGCAG
GCGAACTGTTGCTAAAGGAAATCTGTGTTATATTTTGAATAAATACCACAAACCATTCCATTGTATTCATAAAACTTGCAACTCCTCATTCACCAATCTA
AAAGGCTTAATTCGCCATTACAGAACTGTACATCAGTACAACAAAGAACAGTTATGTTTGGAGAAAGACAAAGCAAGAACCAAAAGGGAACTTGTCAAAT
GTAAAAAGATATTTGCTTGCAAATATAAGGAATGTAATAAACGCTTCCTGTGTTCCAAAGCTCTTGCTAAGCACTGTAGTGATTCTCATAACCTAGACCA
TATTGAAGAGCCTAAAGTACTTTCCGAAGCTGGATCTGCAGCAAGGTTTTCTTGTAACCAGCCTCAGTGCCCTGCTGTTTTTTATACATTCAACAAGTTG
AAGCACCACTTGATGGAACAGCATAATATTGAAGGGGAAATACATTCAGATTATGAAATTCATTGTGATCTTAATGGCTGTGGCCAGATTTTCACCCATC
GCAGTAATTACTCACAACATGTATATTACCGACATAAAGACTATTAYGATGATTTGTTTAGAAGCCAGAAAGTAGCAAATGAGAGACTACTAAGGAGTGA
AAAGGTATGTCAAACAGCTGATACTCAGGGGCATGAACATCAGACCACCAGGAGATCATTTAATGCTAAGTCTAAAAAATGTGGCTTAATCAAAGAAAAG
AAAGCCCCAATAAGTTTTAAAACCAGAGCTGAGGCCCTCCATATGTGTGTGGAGCACTCTGAGCWCWCWCWGTACCCCTGCATGGTTCAAGGATGCTTAT
CTGTGGTGAAGTTGGAGAGCAGCATTGTGAGGCATTACAAACGCACTCATCAGATGAGTAGTGCCTATTTAGAGCAACAGATGGAGAATCTTGTTGTTTG
CGTTAAGTACGGTACCAAAATTAAGGAGGAACCCCCTTCTGAAGCAGATCCCTGTATAAAGAAAGAAGAAAATAGAAGCTGTGAATCAGAGYGCACAGAA
CACAGCCATTCCCYGGGTGACAGTAGTGCACCCATCCAGAACACTGATTGCTGTCATTCAAGTGAAAGGGATGGAGGTCAGAAAGGGTGCATAGAAAGCA
GCTCAGTATTTGATGCAGATACTCTGCTCTACAGGGGAACTTTGAAATGTAAYCATAGTTCCAAAACCACTTCCCTAGAASAGTGTAATATAGTTCAGCC
TCCTCCTCCTTGTAAAATAGAAAATTCCATACCTAATCCCAATGGGACTGAAAGTGGGACTTATTTCACAAGTTTCCAGCTGCCTTTACCAAGGATCAAA
GAATCAGAAACTAGGCAGCATAGTTCAGGGCAAGAAAACACTGTAAAAAATCCAACCCATGTCCCAAAAGAGAATTTTAGGAAACATTCACAGCCCCGGT
CATTTGATTTGAAGACTTACAAACCTATGGGATTTGAATCTTCATTTCTGAAATTTATTCAGGAAAGTGAAGAGAAAGADGATGATTTTGATGATTGGGA
GCCTTCAGAGCACTTAACATTAAGTAATTCTTCACAGTCCAGTAATGATTTAACAGGGAATGTTGTGGCAAATAATATGGTGAATGACAGTGAACCTGAA
GTTGACATACCTCATTCTTCCAGTGACTCTACAATTCATGAGAACCTGACTGCAATCCCACCTTTAATAGTAGCTGAAACAACAACAGTTCCTTCCTTGG
AAAACCTGAGGGTTGTATTGGACAAAGCATTAACAGACTGTGGAGAGCTTGCCTTAAAACAGCTTCATTATCTTCGGCCAGTGGTGGTTCTTGAAAGATC
TAAGTTTTCCACACCAATTTTAGACTTATTTCCAACAAAAAAGACAGATGAGCTTTGTGTAGGAAGTTCATAAGTAGCAATTTTGTTTTAGTAACAGACT
GGCTCCAACACTGCAACATGGGGACATTTGCCAACTCGAACAAAGGCTGAGAAGCAGCCACACCGTTGTTTAGGGTAGAATAGGCTGTGTATTTACATGA
ATGTATAATATCTATGTCAGCAGTATTGGCTGAGTCCATTAGCTCTCCAGTTGGTTTAATGATTGGGTTTATTTTTGTTTGTTTGTTTATTAAAAAAATG
GAACTGTACACTTGTTTGGTGCTAATTAATACATCAAAATATACTGGGGCTTCCTTTTTCAAATTAAGTGTGCATGATTGTATATGGAACAAATACTAAG
GTCCCAGGGTGGGAGGGCTAGGGAAAGGGATATGGAGTTCTTACTTGACTTGAATGTGCACCTGAGGGTGCTTTGTGTAATATATTGTACACTACAGCAT
CTTATATTTTTTGAGTTGAGTTTCAATAAATTACAATTTTTCACCCA

Protein Sequence    (SEQ ID NO:713):
MADGKGDAAAVAGAGAEAPAVAGAGDGVETESMVRGHRPVSPAPGASGLRPCLWQLETELREQEVSEVSSLNYCRSFCQTLLQYASNKNASEHIVYLLEV
YRLAIQSFASARPYLTTECEDVLLVLGRLVLSCFELLLSVSESELPCEVWLPFLQSLQESHDALLEFGNNNLQILVHVTKEGVWKNPVLLKILSQQPVET
EEVNKLIAQEGPSFLQMRIKHLLKSNCIPQATALSKLCAESKEISNVSSFQQAYITCLCSMLPNEDAIKEIAKVDCKEVLDIICNLESEGQDNTAFVLCT
TYLTQQLQTASVYCSWELTLFWSKLQRRIDPSLDTFLERCRQFGVIAKTQQHLFCLIRVIQTEAQDAGLGVSILLCVRALQLRSSEDEEMKASVCKTIAC
LLPEDLEVRRACQLTEFLIEPSLDGFNMLEELYLQPDQKFDEENAPVPNSLRCELLLALKAHWPFDPEFWDWKTLKRHCHQLLGQEASDSDDDLSGYEMS
INDTDVLESFLSDYDEGKEDKQYRRRDLTDQHKEKRDKKPIGSSERYQRWLQYKFFCLLCKRECIEARILHHSKMHMEDGIYTCPVCIKKFKRKEMFVPH
VMEHVKMPPSRRDRSKKKLLLKGSQKGICPKSPSAIPEQNHSLNDQAKGESHEYVTFSKLEDCHLQDRDLYPCPGTDCSRVFKQFKYLSVHLKAEHQNND
ENAKHYLDMKNRREKCTYCRRHFMSAFHLREHEQVHCGPQPYMCVSIDCYARFGSVNELLNHKQKHDDLRYKCELNGCNIVFSDLGQLYHHEAQHFRDAS
YTCNFLGCKKFYYSKIEYQNHLSMHNVENSNGDIKKSVKLEESATGEKQDCINQPHLLNQTDKSHLPEDLFCAESANSQIDTETAENLKENSDSNSSDQL
SHSSSASMNEELIDTLDHSETMQDVLLSNEKVFGPSSLKEKCSSMAVCFDGTKFTCGFDGCGSTYKNARGMQKHLRKVHPYHFKPKKIKTKDLFPSLGNE
HNQTTEKLDAEPKPCSDTNSDSPDEGLDHNIHIKCKREHQGYSSESSICASKRPCTEDTMLELLLRLKHLSLKNSITHGSFSGSLQGYPSSGAKSLQSVS
SISDLNFQNQDENMPSQYLAQLAAKPFFCELQGCKYEFVTREALLMHYLKKHNYSKEKVLQLTMFQHRYSPFQCHICQRSFTRKTHLRIHYKNKHQIGSD
RATHKLLDNEKCDHEGPCSVDRLKGDCSAELGGDPSSNSEKPHCHPKKDECSSETDLESSCEETESKTSDISSPIGSHREEQEGREGRGSRRTVAKGNLC
YILNKYHKPFHCIHKTCNSSFTNLKGLIRHYRTVHQYNKEQLCLEKDKARTKRELVKCKKIFACKYKECNKRFLCSKALAKHCSDSHNLDHIEEPKVLSE
AGSAARFSCNQPQCPAVFYTFNKLKHHLMEQHNIEGEIHSDYEIHCDLNGCGQIFTHRSNYSQHVYYRHKDYYDDLFRSQKVANERLLRSEKVCQTADTQ
GHEHQTTRRSFNAKSKKCGLIKEKKAPISFKTRAEALHMCVEHSEHTQYPCMVQGCLSVVKLESSIVRHYKRTHQMSSAYLEQQMENLVVCVKYGTKIKE
EPPSEADPCIKKEENRSCESERTEHSHSPGDSSAPIQNTDCCHSSERDGGQKGCIESSSVFDADTLLYRGTLKCNHSSKTTSLEQCNIVQPPPPCKIENS
IPNPNGTESGTYFTSFQLPLPRIKESETRQHSSGQENTVKNPTHVPKENFRKHSQPRSFDLKTYKPMGFESSFLKFIQESEEKEDDFDDWEPSEHLTLSN
SSQSSNDLTGNVVANNMVNDSEPEVDIPHSSSDSTIHENLTAIPPLIVAETTTVPSLENLRVVLDKALTDCGELALKQLHYLRPVVVLERSKFSTPILDL
FPTKKTDELCVGSS


SNP Information

Context             (SEQ ID NO:1736):
CCTATTGGCTCTTCTGAAAGATATCAGAGGTGGCTTCAGTACAAGTTTTTCTGTTTGTTATGTAAGCGGGAATGTATAGAGGCTAGAATTCTTCATCATT
Y
TAAGATGCATATGGAAGATGGAATTTACACCTGTCCAGTTTGTATTAAAAAATTTAAGAGAAAAGAAATGTTTGTTCCTCATGTGATGGAGCATGTTAAA
Celera SNP ID:            hCV25953005
SNP Position Transcript:  1746
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,4)   total(C,14|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 573, (S,TCT)   (F,TTT)   



Context             (SEQ ID NO:1737):
GGAAACATTCACAGCCCCGGTCATTTGATTTGAAGACTTACAAACCTATGGGATTTGAATCTTCATTTCTGAAATTTATTCAGGAAAGTGAAGAGAAAGA
D
GATGATTTTGATGATTGGGAGCCTTCAGAGCACTTAACATTAAGTAATTCTTCACAGTCCAGTAATGATTTAACAGGGAATGTTGTGGCAAATAATATGG
Celera SNP ID:            hCV2515247
SNP Position Transcript:  5380
SNP Source:               Applera
Population(Allele,Count): african american(A,30|T,6)   caucasian(A,25|T,5)   total(A,55|T,11)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1784, (E,GAA)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,5)   caucasian(A,33|T,7)   total(A,60|T,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1784, (E,GAA)   (D,GAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|A,8)   total(A,8|T,2)Caucasian(T,77|A,233)   Chinese(G,0|A,60)   Japanese(T,2|A,18)   African(T,26|A,72)   total(A,383|T,105)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1784, (E,GAA)   (D,GAT)      1784, (E,GAA)   (E,GAG)   (D,GAT)      



Context             (SEQ ID NO:1738):
GCTCTCAAAAGGGTATTTGTCCTAAGAGCCCCTCTGCAATCCCAGAGCAAAACCATTCATTGAATGACCAAGCCAAAGGAGAGTCTCATGAATATGTCAC
R
TTCAGCAAATTAGAAGATTGCCACCTGCAAGACAGAGATTTGTATCCATGTCCCGGTACAGACTGTTCCCGTGTGTTTAAGCAATTTAAATACTTAAGTG
Celera SNP ID:            hCV25953143
SNP Position Transcript:  1996
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,30|G,2)   total(A,68|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 656, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:1739):
CAGTTAAGTCATAGCTCTTCAGCTTCAATGAATGAAGAGCTAATTGACACACTAGATCACTCTGAAACTATGCAGGATGTATTGTTATCTAATGAGAAAG
Y
CTTTGGGCCCTCCAGTTTAAAAGAAAAATGTTCCAGTATGGCAGTTTGTTTTGACGGGACTAAGTTTACCTGTGGTTTTGATGGCTGTGGTTCCACATAC
Celera SNP ID:            hCV25636920
SNP Position Transcript:  2823
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,36)   total(C,2|T,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 932, (A,GCC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 932, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:1740):
GATGTATTGTTATCTAATGAGAAAGTCTTTGGGCCCTCCAGTTTAAAAGAAAAATGTTCCAGTATGGCAGTTTGTTTTGACGGGACTAAGTTTACCTGTG
R
TTTTGATGGCTGTGGTTCCACATACAAAAATGCAAGAGGAATGCAGAAACATTTACGGAAGGTTCATCCATACCATTTCAAGCCCAAAAAGATAAAGACG
Celera SNP ID:            hCV25636921
SNP Position Transcript:  2898
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,4|G,34)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 957, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:1741):
AGACGAAAGATCTGTTTCCCTCTTTGGGTAATGAACATAATCAGACAACTGAAAAGTTGGATGCAGAACCTAAACCCTGCTCAGATACAAACAGTGACTC
Y
CCAGATGAAGGTCTAGATCACAATATTCACATTAAATGTAAACGAGAACATCAAGGTTATTCCTCAGAATCCTCCATTTGTGCTTCTAAAAGGCCCTGTA
Celera SNP ID:            hCV15953453
SNP Position Transcript:  3094
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 1022, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:1742):
ATGATGAAAATGCCAAGCACTACTTGGATATGAAAAATAGAAGAGAGAAGTGTACTTACTGTCGACGACATTTTATGTCTGCTTTTCACCTTCGAGAGCA
Y
GAACAAGTGCATTGTGGGCCTCAGCCTTATATGTGTGTATCTATAGATTGCTATGCTAGGTTTGGATCAGTAAATGAACTACTTAACCATAAACAAAAGC
Celera SNP ID:            hCV25636914
SNP Position Transcript:  2224
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 732, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:1743):
TGCCATGTGAAGTCTGGCTACCATTCCTTCAGTCTCTACAGGAGTCACATGATGCATTATTGGAATTTGGGAATAATAACCTACAAATATTGGTTCATGT
Y
ACCAAGGAAGGGGTGTGGAAAAACCCAGTTCTTCTTAAAATTCTGTCTCAACAGCCAGTAGAAACGGAGGAAGTCAATAAATTGATTGCACAAGAAGGAC
Celera SNP ID:            hCV25636917
SNP Position Transcript:  562
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 178, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:1744):
GAAAGGGTGCATAGAAAGCAGCTCAGTATTTGATGCAGATACTCTGCTCTACAGGGGAACTTTGAAATGTAATCATAGTTCCAAAACCACTTCCCTAGAA
S
AGTGTAATATAGTTCAGCCTCCTCCTCCTTGTAAAATAGAAAATTCCATACCTAATCCCAATGGGACTGAAAGTGGGACTTATTTCACAAGTTTCCAGCT
Celera SNP ID:            hCV25636918
SNP Position Transcript:  5081
SNP Source:               Applera
Population(Allele,Count): african american(C,27|G,1)   caucasian(C,34)   total(C,61|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1685, (Q,CAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,2)   total(C,31|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1685, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:1745):
ACCAAAATTAAGGAGGAACCCCCTTCTGAAGCAGATCCCTGTATAAAGAAAGAAGAAAATAGAAGCTGTGAATCAGAGCGCACAGAACACAGCCATTCCC
Y
GGGTGACAGTAGTGCACCCATCCAGAACACTGATTGCTGTCATTCAAGTGAAAGGGATGGAGGTCAGAAAGGGTGCATAGAAAGCAGCTCAGTATTTGAT
Celera SNP ID:            hCV25951562
SNP Position Transcript:  4914
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1629, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:1746):
GTCATTCAAGTGAAAGGGATGGAGGTCAGAAAGGGTGCATAGAAAGCAGCTCAGTATTTGATGCAGATACTCTGCTCTACAGGGGAACTTTGAAATGTAA
Y
CATAGTTCCAAAACCACTTCCCTAGAACAGTGTAATATAGTTCAGCCTCCTCCTCCTTGTAAAATAGAAAATTCCATACCTAATCCCAATGGGACTGAAA
Celera SNP ID:            hCV25636919
SNP Position Transcript:  5053
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,32)   total(C,2|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 1675, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,38)   total(C,1|T,69)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 1675, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1747):
CAGATTATGAAATTCATTGTGATCTTAATGGCTGTGGCCAGATTTTCACCCATCGCAGTAATTACTCACAACATGTATATTACCGACATAAAGACTATTA
Y
GATGATTTGTTTAGAAGCCAGAAAGTAGCAAATGAGAGACTACTAAGGAGTGAAAAGGTATGTCAAACAGCTGATACTCAGGGGCATGAACATCAGACCA
Celera SNP ID:            hCV25951670
SNP Position Transcript:  4447
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,14)   total(C,2|T,44)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 1473, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:1748):
TCTAAAAAATGTGGCTTAATCAAAGAAAAGAAAGCCCCAATAAGTTTTAAAACCAGAGCTGAGGCCCTCCATATGTGTGTGGAGCACTCTGAGCACACAC
W
GTACCCCTGCATGGTTCAAGGATGCTTATCTGTGGTGAAGTTGGAGAGCAGCATTGTGAGGCATTACAAACGCACTCATCAGATGAGTAGTGCCTATTTA
Celera SNP ID:            hCV9631165
SNP Position Transcript:  4671
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1548, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:1749):
AGTCTAAAAAATGTGGCTTAATCAAAGAAAAGAAAGCCCCAATAAGTTTTAAAACCAGAGCTGAGGCCCTCCATATGTGTGTGGAGCACTCTGAGCACAC
W
CAGTACCCCTGCATGGTTCAAGGATGCTTATCTGTGGTGAAGTTGGAGAGCAGCATTGTGAGGCATTACAAACGCACTCATCAGATGAGTAGTGCCTATT
Celera SNP ID:            hCV9631166
SNP Position Transcript:  4669
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 1547, (T,ACA)   (T,ACT)      



Context             (SEQ ID NO:1750):
TAAGTCTAAAAAATGTGGCTTAATCAAAGAAAAGAAAGCCCCAATAAGTTTTAAAACCAGAGCTGAGGCCCTCCATATGTGTGTGGAGCACTCTGAGCAC
W
CACAGTACCCCTGCATGGTTCAAGGATGCTTATCTGTGGTGAAGTTGGAGAGCAGCATTGTGAGGCATTACAAACGCACTCATCAGATGAGTAGTGCCTA
Celera SNP ID:            hCV9631176
SNP Position Transcript:  4667
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1547, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:1751):
GCAATCCCAGAGCAAAACCATTCATTGAATGACCAAGCCAAAGGAGAGTCTCATGAATATGTCACATTCAGCAAATTAGAAGATTGCCACCTGCAAGACA
R
AGATTTGTATCCATGTCCCGGTACAGACTGTTCCCGTGTGTTTAAGCAATTTAAATACTTAAGTGTGCATCTTAAAGCTGAACACCAAAATAATGATGAA
Celera SNP ID:            hCV25953642
SNP Position Transcript:  2031
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,2|G,12)   total(A,3|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 668, (K,AAA)   (R,AGA)   



Context             (SEQ ID NO:1752):
GCTAAGTCTAAAAAATGTGGCTTAATCAAAGAAAAGAAAGCCCCAATAAGTTTTAAAACCAGAGCTGAGGCCCTCCATATGTGTGTGGAGCACTCTGAGC
W
CACACAGTACCCCTGCATGGTTCAAGGATGCTTATCTGTGGTGAAGTTGGAGAGCAGCATTGTGAGGCATTACAAACGCACTCATCAGATGAGTAGTGCC
Celera SNP ID:            hCV9631177
SNP Position Transcript:  4665
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1546, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:1753):
TGTTGTTTGCGTTAAGTACGGTACCAAAATTAAGGAGGAACCCCCTTCTGAAGCAGATCCCTGTATAAAGAAAGAAGAAAATAGAAGCTGTGAATCAGAG
Y
GCACAGAACACAGCCATTCCCCGGGTGACAGTAGTGCACCCATCCAGAACACTGATTGCTGTCATTCAAGTGAAAGGGATGGAGGTCAGAAAGGGTGCAT
Celera SNP ID:            hCV25953903
SNP Position Transcript:  4892
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,32)   total(C,66|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:713, 1622, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:1754):
TTTGTATTAAAAAATTTAAGAGAAAAGAAATGTTTGTTCCTCATGTGATGGAGCATGTTAAAATGCCACCAAGCAGAAGGGACCGCTCTAAAAAGAAATT
R
CTGTTAAAAGGCTCTCAAAAGGGTATTTGTCCTAAGAGCCCCTCTGCAATCCCAGAGCAAAACCATTCATTGAATGACCAAGCCAAAGGAGAGTCTCATG
Celera SNP ID:            hCV25952495
SNP Position Transcript:  1885
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:713, 619, (L,TTA)   (L,TTG)   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT1965930 - 206000044039734
Public Transcript Accession: NM_001852
Celera Protein:              hCP1781493 - 206000044039715
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42819177..42836384)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:17):
GCCAGAGGAGAGGGGAGCAAGGTGGGCGGGAGCTGGGGAGAGCCTGCAGCAAGATCTGCAGAGCCCGAGGTGCTCTCGGCMTGGGCCCTGGAGAGGACGT
AGGGAGCCCCAGCCCACCCTGCCCGCGAACAGCCAGCGCTGGAGGAGCGCCGGGAGACTCTGCCGTCGGTGCGTGCGCGGACACGCACCCGTCCCCCTTG
GTCTCGCCGCCAGCCATGGCCGCCGCTACGGCCTCCCCCCGCAGCCTCCTTGTTCTCCTCCAGGTGGTAGTGCTCGCTCTGGCGCAGATTAGAGGTCCAC
CGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGT
TYTGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAGYTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAG
GCCTCATCCCCCTYCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCTYTGGCACATYTGGACGCTTCTTCAGGGTGACA
ATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGAAGCCCGGGATTGATGGTTTAAC
TGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGGCTTCCTGGTCCTCCTGGCCTTCCGGGCCCTGGTTTTGCTGGA
CCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGAC
CCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCC
AGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGTGGGTGCCTCT
GGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAYGGGCCCTCATGGATATAAAG
GCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGTGACGAGGGCAGCCCAGG
TATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGC
AGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGCSTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTG
AGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACA
GAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGRCCC
CAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGA
AAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCC
AGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGAT
GCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGG
GCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCRTTCCTGGCATCGTGGG
AGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCC
CCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTG
GCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCAT
CAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAG
GAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGA
AAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACC
AAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACA
GTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGGTGACTGCTGCTGGGTGACTC
CCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACATCATCTCCCTTCTCTTTCTCGCATAACTC
CCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGGATATTGGAGTTACTCTATCCTGGAGTTAA
CTAGGATAGAG

Protein Sequence    (SEQ ID NO:714):
MGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGH
AGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGIT
GPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERG
PVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGP
PGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNT
GPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1755):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  1446
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 241, (L,CTA)   (V,GTA) 



Context             (SEQ ID NO:1756):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1505
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:714, 260, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:714, 260, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1757):
CAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAGCTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCT
Y
CTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCTCTGGCACATCTGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGA
Celera SNP ID:            hCV2245307
SNP Position Transcript:  514
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   TSC_42_A(C,25|T,58)   TSC_42_C(C,25|T,58)   TSC_42_AA(C,16|T,67)   total(C,66|T,183)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1758):
GGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGTT
Y
TGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAGCTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGC
Celera SNP ID:            hCV2245308
SNP Position Transcript:  402
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1759):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  1180
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 152, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1760):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2827
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1761):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1697
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:714, 324, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1762):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  1419
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 232, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1763):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  1420
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 232, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1764):
GCCAGAGGAGAGGGGAGCAAGGTGGGCGGGAGCTGGGGAGAGCCTGCAGCAAGATCTGCAGAGCCCGAGGTGCTCTCGGC
M
TGGGCCCTGGAGAGGACGTAGGGAGCCCCAGCCCACCCTGCCCGCGAACAGCCAGCGCTGGAGGAGCGCCGGGAGACTCTGCCGTCGGTGCGTGCGCGGA
Celera SNP ID:            hCV16064524
SNP Position Transcript:  81
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1765):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  2184
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 487, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:714, 487, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1766):
CGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGTTCTGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAG
Y
TGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTG
Celera SNP ID:            hCV11729559
SNP Position Transcript:  465
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1767):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  2444
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:714, 573, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:714, 573, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1768):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2635
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1769):
CGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCTCTGGCACAT
Y
TGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGA
Celera SNP ID:            hCV2245305
SNP Position Transcript:  578
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   Caucasian(C,78)   African-American(T,1|C,75)   no_pop(T,-|C,-)   Asians(T,3|C,79)   total(C,232|T,4)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Context             (SEQ ID NO:1770):
TGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCT
Y
TGGCACATCTGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGC
Celera SNP ID:            hCV2245306
SNP Position Transcript:  569
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:714, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT2343352 - 206000044039823
Public Transcript Accession: NM_001852
Celera Protein:              hCP1908058 - 206000044039709
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42820777..42836344)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:18):
CAGCCTGCTAGGCACAACCTTACATTCCATCTGTGATTTATTTGAGCTGTCCACGTCTCCATCTATTCCCCACCGCGACCGCGCAAGGGCAAACTGGCAC
AGTGGAAGGAGTCGGGCAGATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTYTGAGCCAGTTTCTTCGACTGC
AAACTGGGGCCCGTAATAGSGCCCGCCTCCCGGTTYTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTG
CCTGGATCCGACGGCATCGACGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGTTYTGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTAT
AGCCGCCGACAGACAAGGAGYTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTYCTCTCCTTTCCCCTCCTTGTGGGGTAGGAG
GCGACTCAACCCCTCACCCTGCCTYTGGCACATYTGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAG
CCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCA
AGGGCCAGCCCGGGCTTCCTGGTCCTCCTGGCCTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGG
AATCCGAGGCCCCAAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAA
GGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTC
TGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAG
GGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAYGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAA
GGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGG
GCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGG
CCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGG
AAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCC
CTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGRCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAA
GACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAG
CAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGG
CCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCA
AGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCA
GGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCRTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTG
GAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAA
CGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCY
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
CCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCC
TAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCG
AAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTG
TCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCA
GTTCCTGATCCCATCTCACTCTCTGGACCTACCAGGTGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTC
CCTGCCTCCCAGCTCAGTATTTAAACATCATCTCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAA
AAGCTCCCAAGTTGGGTACAAACCAGG

Protein Sequence    (SEQ ID NO:715):
MGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGH
AGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGIT
GPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERG
PVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGP
PGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNT
GPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1771):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  1402
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 241, (L,CTA)   (V,GTA) 



Context             (SEQ ID NO:1772):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1461
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:715, 260, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:715, 260, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1773):
CAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAGCTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCT
Y
CTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCTCTGGCACATCTGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGA
Celera SNP ID:            hCV2245307
SNP Position Transcript:  470
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   TSC_42_A(C,25|T,58)   TSC_42_C(C,25|T,58)   TSC_42_AA(C,16|T,67)   total(C,66|T,183)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1774):
GGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGTT
Y
TGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAGCTGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGC
Celera SNP ID:            hCV2245308
SNP Position Transcript:  358
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1775):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  1136
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 152, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1776):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  1376
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 232, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1777):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  2140
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 487, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 487, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1778):
ATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTCTGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAG
S
GCCCGCCTCCCGGTTCTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGA
Celera SNP ID:            hCV9630220
SNP Position Transcript:  220
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1779):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2783
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1780):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  1375
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:715, 232, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1781):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1653
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:715, 324, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1782):
CGCGGCGCCGGCCCGCACCACAAGGACGCCGTTTGTTCTGCAAAAACCTCAAACCAGCCCTGACATGCGGAGCCCGTTATAGCCGCCGACAGACAAGGAG
Y
TGCTGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTG
Celera SNP ID:            hCV11729559
SNP Position Transcript:  421
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1783):
TGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTCTGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAGCGCCCGCCTCCCGGTT
Y
TGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGCGGCGCCGGCCCGC
Celera SNP ID:            hCV2245310
SNP Position Transcript:  236
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1784):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  2400
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:715, 573, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:715, 573, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1785):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2591
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1786):
CCGCGCAAGGGCAAACTGGCACAGTGGAAGGAGTCGGGCAGATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTT
Y
TGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAGCGCCCGCCTCCCGGTTCTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGT
Celera SNP ID:            hCV2245311
SNP Position Transcript:  179
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1787):
CGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCTCTGGCACAT
Y
TGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGA
Celera SNP ID:            hCV2245305
SNP Position Transcript:  534
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   Caucasian(C,78)   African-American(T,1|C,75)   no_pop(T,-|C,-)   Asians(T,3|C,79)   total(C,232|T,4)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Context             (SEQ ID NO:1788):
TGTTCAGTCCGCCGGCCGCAGCTCACAGCGAGGCCTCATCCCCCTCCTCTCCTTTCCCCTCCTTGTGGGGTAGGAGGCGACTCAACCCCTCACCCTGCCT
Y
TGGCACATCTGGACGCTTCTTCAGGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGC
Celera SNP ID:            hCV2245306
SNP Position Transcript:  525
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:715, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT2343353 - 206000044039693
Public Transcript Accession: NM_001852
Celera Protein:              hCP1908057 - 206000044039706
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42831892..42836344)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:19):
AGGTGGTCTGGGAAACCTTCCCTGATGAAGCAAATTAGCTGAGACCCAGGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACA
GAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGRCCC
CAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGA
AAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCC
AGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGAT
GCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGG
GCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCRTTCCTGGCATCGTGGG
AGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCC
CCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTG
GCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCAT
CAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAG
GAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGA
AAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACC
AAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACA
GTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGGTGACTGCTGCTGGGTGACTC
CCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACATCATCTCCCTTCTCTTTCTCGCATAACTC
CCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGG

Protein Sequence    (SEQ ID NO:716):
MGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDA
GAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPG
IVGAVGQIGNTGPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEP
GSIKGP


SNP Information

Context             (SEQ ID NO:1789):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  684
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:716, 198, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:716, 198, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1790):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  1327
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:716, None   



Context             (SEQ ID NO:1791):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  944
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:716, 284, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:716, 284, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1792):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  197
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:716, 35, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1793):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  1135
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:716, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT2343354 - 206000044039767
Public Transcript Accession: NM_001852
Celera Protein:              hCP1908060 - 206000044039713
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42820777..42836344)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:20):
CAGCCTGCTAGGCACAACCTTACATTCCATCTGTGATTTATTTGAGCTGTCCACGTCTCCATCTATTCCCCACCGCGACCGCGCAAGGGCAAACTGGCAC
AGTGGAAGGAGTCGGGCAGATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTYTGAGCCAGTTTCTTCGACTGC
AAACTGGGGCCCGTAATAGSGCCCGCCTCCCGGTTYTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTG
CCTGGATCCGACGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAG
ACGGGAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGGCTTCCTGGTCCTCC
TGGCCTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGGGACCCTGGA
CCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCA
ACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCC
GGGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAG
GGAGAGAYGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTG
GGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGG
GACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGG
ACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAG
AAATTGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGA
GCAGGGCCCCCCCGGAATTCCAGGRCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGAC
CCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACC
CTGGCCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCC
CGGGAGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGT
GCCAAGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTG
GCCCTCGGGGCRTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGG
ACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCA
GGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCT
CTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTG
GGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGG
GAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCC
TTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCT
CGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGAC
CTACCAGGTGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACAT
CATCTCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGG

Protein Sequence    (SEQ ID NO:717):
MGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGH
AGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGIT
GPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERG
PVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGP
PGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNT
GPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1794):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  1402
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 241, (L,CTA)   (V,GTA) 



Context             (SEQ ID NO:1795):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1233
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:717, 260, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:717, 260, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1796):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  908
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 152, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1797):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2555
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:717, None   



Context             (SEQ ID NO:1798):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1425
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:717, 324, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1799):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  1147
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 232, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1800):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  1148
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 232, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1801):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  1912
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 487, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:717, 487, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1802):
ATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTCTGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAG
S
GCCCGCCTCCCGGTTCTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGA
Celera SNP ID:            hCV9630220
SNP Position Transcript:  220
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:717, None   



Context             (SEQ ID NO:1803):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  2172
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:717, 573, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:717, 573, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1804):
TGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTTCTGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAGCGCCCGCCTCCCGGTT
Y
TGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGGTGACAATGGGCCC
Celera SNP ID:            hCV2245310
SNP Position Transcript:  236
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:717, None   



Context             (SEQ ID NO:1805):
CCGCGCAAGGGCAAACTGGCACAGTGGAAGGAGTCGGGCAGATCCAGGGCGGACTCCTGGCGCCGCCGCCCACTCTCAGTGACCATGGACCCTTCACGTT
Y
TGAGCCAGTTTCTTCGACTGCAAACTGGGGCCCGTAATAGCGCCCGCCTCCCGGTTCTGAGTATTCTAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGT
Celera SNP ID:            hCV2245311
SNP Position Transcript:  179
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:717, None   



Context             (SEQ ID NO:1806):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2363
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:717, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT6700 - 206000044039600
Public Transcript Accession: NM_001852
Celera Protein:              hCP34669 - 206000044039710
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42819479..42836384)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:21):
GGCMTCCCTCCCGGCAACCCCSCCGGTCCTCTCAGAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGA
CGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGAAGCCC
GGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGGCTTCCTGGTCCTCCTGGCCTTCCGG
GCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGGGACCCTGGACCAGATGGACC
ATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCC
GGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGG
GAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAYGGG
CCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGT
GACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCA
CGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGG
CCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCC
CAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCC
CCGGAATTCCAGGRCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGC
CGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGC
GGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGG
GCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGA
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
RTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACC
CCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGG
AGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTT
ACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGC
ACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGT
AGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGC
ATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCG
GGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGGTGA
CTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACATCATCTCCCTTC
TCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGGATATTGGAGTTA
CTCTATCCTGGAGTTAACTAGGATAGAG

Protein Sequence    (SEQ ID NO:718):
MGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGH
AGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGIT
GPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERG
PVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGP
PGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNT
GPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1807):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  963
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 241, (L,CTA)   (V,GTA)



Context             (SEQ ID NO:1808):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1022
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:718, 260, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:718, 260, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1809):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  697
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 152, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1810):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2344
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:718, None   



Context             (SEQ ID NO:1811):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1214
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:718, 324, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1812):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 232, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1813):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  937
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 232, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1814):
GGC
M
TCCCTCCCGGCAACCCCGCCGGTCCTCTCAGAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGC
Celera SNP ID:            hCV16064532
SNP Position Transcript:  4
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:718, None   



Context             (SEQ ID NO:1815):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  1701
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 487, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:718, 487, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1816):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  1961
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:718, 573, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:718, 573, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1817):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2152
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:718, None   



Context             (SEQ ID NO:1818):
GGCCTCCCTCCCGGCAACCCC
S
CCGGTCCTCTCAGAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGGTGACAATGGG
Celera SNP ID:            hCV16069767
SNP Position Transcript:  22
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:718, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT2335855 - 206000044039722
Public Transcript Accession: NM_001852
Celera Protein:              hCP1810527 - 206000044039708
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42819177..42836384)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:22):
GCCAGAGGAGAGGGGAGCAAGGTGGGCGGGAGCTGGGGAGAGCCTGCAGCAAGATCTGCAGAGCCCGAGGTGCTCTCGGCMTGGGCCCTGGAGAGGACGT
AGGGAGCCCCAGCCCACCCTGCCCGCGAACAGCCAGCGCTGGAGGAGCGCCGGGAGACTCTGCCGTCGGTGCGTGCGCGGACACGCACCCGTCCCCCTTG
GTCTCGCCGCCAGCCATGGCCGCCGCTACGGCCTCCCCCCGCAGCCTCCTTGTTCTCCTCCAGGTGGTAGTGCTCGCTCTGGCGCAGATTAGAGGTCCAC
CGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCC
GGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGGGAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATG
GGGATCCCTGGAGTCAAGGGCCAGCCCGGGCTTCCTGGTCCTCCTGGCCTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCC
TCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAAC
CATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCG
GGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGG
GTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAYGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGG
GCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGC
CCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAA
GTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATT
CTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCA
GTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGRCCCCAAGGCTTGCCAGGCGTCAAAGGAGACA
AGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCC
GGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCC
GGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGG
CGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGG
GCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCRTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGG
CCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGC
CTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGG
CTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGAC
AGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTC
TGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGT
GGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTTYC
TCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATG
ACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGGTGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAG
CCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACATCATCTCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAG
GCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGGATATTGGAGTTACTCTATCCTGGAGTTAACTAGGATAGAG

Protein Sequence    (SEQ ID NO:719):
MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAGPPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGV
KGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGHAGKRGI
LGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPG
PQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGPPGPRGL
AGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1819):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  1218
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 335, (L,CTA)   (V,GTA)   



Context             (SEQ ID NO:1820):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1277
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:719, 354, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:719, 354, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1821):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  952
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 246, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1822):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2599
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:719, None   



Context             (SEQ ID NO:1823):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1469
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:719, 418, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1824):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  1191
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 326, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1825):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  1192
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 326, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1826):
GCCAGAGGAGAGGGGAGCAAGGTGGGCGGGAGCTGGGGAGAGCCTGCAGCAAGATCTGCAGAGCCCGAGGTGCTCTCGGC
M
TGGGCCCTGGAGAGGACGTAGGGAGCCCCAGCCCACCCTGCCCGCGAACAGCCAGCGCTGGAGGAGCGCCGGGAGACTCTGCCGTCGGTGCGTGCGCGGA
Celera SNP ID:            hCV16064524
SNP Position Transcript:  81
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:719, None   



Context             (SEQ ID NO:1827):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  1956
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 581, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:719, 581, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1828):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  2216
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:719, 667, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:719, 667, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1829):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2407
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:719, None   



Gene Number:                 7
Celera Gene:                 hCG15675 - 206000044039732
Celera Transcript:           hCT2343351 - 206000044039700
Public Transcript Accession: NM_001852
Celera Protein:              hCP1908059 - 206000044039711
Public Protein Accession:    NP_001843
Gene Symbol:                 COL9A2
Protein Name:                collagen, type IX, alpha 2;DJ39G22.4;EDM2;MED
Celera Genomic Axis:         GA_x5YUV32W802(42820175..42836344)
Chromosome:                  Chr1
OMIM number:                 120260
OMIM Information:            COLLAGEN, TYPE IX, ALPHA-2;COL9A2


Transcript Sequence (SEQ ID NO:23):
ACGTCTCCCTTCCGAGGGCCGCCGGGGGCTGCGGGCGCGCGGAGAGGTCCACCGGGAGAGCGGGGCCCCCCGGGTCCCCCGGGACCGCCGGGAGTGCCTG
GATCCGACGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAAGCTGGGCCAGATGGGCCAGACGG
GAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGGCTTCCTGGTCCTCCTGGC
CTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGGGACCCTGGACCAG
ATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTG
TCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGT
CCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAG
AGAYGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGA
GAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACC
CCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAA
AAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAAT
TGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAG
GGCCCCCCCGGAATTCCAGGRCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAG
GGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGG
CCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGG
AGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCA
AGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCC
TCGGGGCRTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGG
GGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGG
CTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCYGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGC
CCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTG
GACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGACYCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAG
GGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCC
AGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTTYCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGG
AGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTAC
CAGGTGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAACATCATC
TCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGGTACAAACCAGG

Protein Sequence    (SEQ ID NO:720):
MGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGH
AGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGIT
GPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERG
PVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGP
PGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNT
GPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP


SNP Information

Context             (SEQ ID NO:1830):
CCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAYRGCCCGGAAGTCCAGGCCACCAGGGC
S
TAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCRGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAA
Celera SNP ID:            hCV16171417
SNP Position Transcript:  970
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 241, (L,CTA)   (V,GTA)  



Context             (SEQ ID NO:1831):
CAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCC
R
GGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGG
Celera SNP ID:            hCV2515304
SNP Position Transcript:  1029
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:720, 260, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:720, 260, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:1832):
AAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGA
Y
GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAG
Celera SNP ID:            hCV16171415
SNP Position Transcript:  704
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 152, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:1833):
GTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACCAAAACAAACATCTTAATCTGCACCTT
Y
CTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTGCCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAAT
Celera SNP ID:            hCV16064558
SNP Position Transcript:  2351
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:720, None   



Context             (SEQ ID NO:1834):
GACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGG
R
CCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAG
Celera SNP ID:            hCV25471977
SNP Position Transcript:  1221
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:720, 324, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:1835):
GATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGA
Y
AGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCT
Celera SNP ID:            hCV25922766
SNP Position Transcript:  943
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,1)   caucasian(C,28)   total(C,53|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 232, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:1836):
ATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGAC
R
GCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTT
Celera SNP ID:            hCV25472491
SNP Position Transcript:  944
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,5)   caucasian(A,26|G,2)   total(A,43|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 232, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:1837):
AGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGC
R
TTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCC
Celera SNP ID:            hCV25473548
SNP Position Transcript:  1708
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,40)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 487, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,27|G,716)   total(G,716|A,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:720, 487, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:1838):
ACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGC
Y
GCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAGAGCCTGGCAGGCAT
Celera SNP ID:            hCV15851504
SNP Position Transcript:  1968
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:720, 573, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:720, 573, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1839):
TGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGACCTTCTGTCTGGGAC
Y
CAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGGCCAACACACAGGGCAAGTGGTGTCG
Celera SNP ID:            hCV15851505
SNP Position Transcript:  2159
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:720, None   



Gene Number:                 8
Celera Gene:                 hCG15752 - 146000219494834
Celera Transcript:           hCT6780 - 146000219494835
Public Transcript Accession: NM_003662
Celera Protein:              hCP35318 - 197000069451369
Public Protein Accession:    NP_003653
Gene Symbol:                 PIR
Protein Name:                Pirin
Celera Genomic Axis:         GA_x5YUV32W4U7(13916714..14025611)
Chromosome:                  ChrX
OMIM number:                 300101
OMIM Information:            BONE MARROW KINASE, X-LINKED;BMX


Transcript Sequence (SEQ ID NO:24):
CAACTTATCTATGGAACAAACGATTCTGTAGTGCTTAGAATGTGACAGGCTCATTTAATTCTCATTTCAGCCCGATAAGGCTGGCACTATTATCATCACC
ATCCTCATTTTATAGAGGAGGAACCAGAGGCACAGAGAGACTGAGCCACCTGTCCCAGGTCATGTCAAGTGGTGCCTCCCAGCGGTGGAGGCAGCACTGG
AATCCGTGCCGCCAAGCTCCGCCGGCTGGGTGACAGGGAGACTACAGTTAAAAACAGATTTCCCACAAGACCGACCGGAGCGCCGATCAGAGCACCTGCC
CGGGCCACACATTTCCTCCTGGAGCACAGCAAGTGCCGCCTAAATTACCCGAGTGAGCATCTCTTCCCGGCACGAGAGGCAGGGAGGCCAAAGGGCCGCC
AAGCTGGCCTGGGAGAGGCGTAGGGCGGAGCGAGAGTGGAGTGACATTCCCGAGGGCGGAGCCCCAGGGCCTCCGAGACCCGTAGACTCCCGCCTCCCGC
CTCCTCTAGGCCGCCGGCCGCGAAGCGCTGAGTCACGGTGAGGCKACTGGACCCACACTCTCTTAACCTGCCCTCCCTGCACTCGCTCCCGGCGGCTCTT
CGCGTCACCCCCGCCGCTAAGGCTCCAGGTGCCGCTACCGCAGCGTGAGTACCTGGGGCTCCTGCAGGGGTCCACTAGCCCTCCATCCTCTACAGCTCAG
CATCAGAACACTCTCTTTTTAGACTCCGATATGGGGTCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGASGG
TCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAATCTGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCATCC
ACATCGAGGTTTTGAAACAGTATCCTACCTCCTGGAAGGGGGCAGCATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTG
CAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCTGAGATGCCTTKCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAG
AGAAGATGGTGGAGCYTCAGTACCAGGAACTGAAAAGTGAAGAAATCCCTAAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCT
GGGAATAAAGTCCAAGGTTTACACTCGCACACCAACCTTATATTTGGACTTCAAATTGGACCCAGGAGCCAAACATTCCCAACCTATCCCTAAAGGGTGG
ACAAGCTTCATTTACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTG
ACAGTGTCCARGYGGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGT
GATGAACACCAATGAAGAGATTTCTCAAGCTATTCTTGATTTCAGAAACGCAAAAAATGGGTTTGAAAGGGCCAAAACCTGGAAATCAAAGATTGGGAAC
TAGTGGAAAGCGGAAGAGCAGGTCTTGATGTGTCCTAGAATTTTGCCATTTCTGAGATTGAGCCATTGAAGGCATTCCATTTCTAAAGCTTATTTAGCCG
GTGCTTCTAAAGAATTSCACACTAACGTGATAACATGGTTTTTGTAACAATAAATGTAGGATATTTCCTGGCACATGCAAATAAACCTAATCATTGTTTC
TTTAAAAATCA

Protein Sequence    (SEQ ID NO:721):
MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRGFETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGIL
HAEMPCSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKVYTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGD
VYIGPDDAQQKIEPHHTAVLGEGDSVQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN


SNP Information

Context             (SEQ ID NO:1840):
CAGCATCAGAACACTCTCTTTTTAGACTCCGATATGGGGTCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGA
S
GGTCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAATCTGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCAT
Celera SNP ID:            hCV25631272
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(G,34)   total(C,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 23, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:1841):
CATTCCCGAGGGCGGAGCCCCAGGGCCTCCGAGACCCGTAGACTCCCGCCTCCCGCCTCCTCTAGGCCGCCGGCCGCGAAGCGCTGAGTCACGGTGAGGC
K
ACTGGACCCACACTCTCTTAACCTGCCCTCCCTGCACTCGCTCCCGGCGGCTCTTCGCGTCACCCCCGCCGCTAAGGCTCCAGGTGCCGCTACCGCAGCG
Celera SNP ID:            hCV15960446
SNP Position Transcript:  545
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:721, None   



Context             (SEQ ID NO:1842):
GGCCGGGGCATTCTGCACGCTGAGATGCCTTGCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGC
Y
TCAGTACCAGGAACTGAAAAGTGAAGAAATCCCTAAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCTGGGAATAAAGTCCAAG
Celera SNP ID:            hCV12120418
SNP Position Transcript:  1116
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 129, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:1843):
TTTACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCA
R
GTGGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCA
Celera SNP ID:            hCV338228
SNP Position Transcript:  1411
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,25)   caucasian(A,30|G,4)   total(A,41|G,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 227, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,5)      total(G,4|A,5) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 227, (Q,CAA)   (Q,CAG)      227, (Q,CAG)   (Q,CAA)      



Context             (SEQ ID NO:1844):
ATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTGCAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCTGAGATGCCTT
K
CTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGCCTCAGTACCAGGAACTGAAAAGTGAAGAAATC
Celera SNP ID:            hCV25765508
SNP Position Transcript:  1047
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,1)   caucasian(G,6)   total(G,15|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 106, (C,TGC)   (F,TTC)   



Context             (SEQ ID NO:1845):
TACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCAAG
Y
GGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCAAT
Celera SNP ID:            hCV25631294
SNP Position Transcript:  1413
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,1|T,35)   total(C,5|T,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:721, 228, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:1846):
AGCAGGTCTTGATGTGTCCTAGAATTTTGCCATTTCTGAGATTGAGCCATTGAAGGCATTCCATTTCTAAAGCTTATTTAGCCGGTGCTTCTAAAGAATT
S
CACACTAACGTGATAACATGGTTTTTGTAACAATAAATGTAGGATATTTCCTGGCACATGCAAATAAACCTAATCATTGTTTCTTTAAAAATCA
Celera SNP ID:            hCV8816892
SNP Position Transcript:  1717
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:721, None   



Gene Number:                 8
Celera Gene:                 hCG15752 - 146000219494834
Celera Transcript:           hCT1961274 - 146000219494860
Public Transcript Accession: NM_003662
Celera Protein:              hCP1777348 - 197000069451371
Public Protein Accession:    NP_003653
Gene Symbol:                 PIR
Protein Name:                Pirin
Celera Genomic Axis:         GA_x5YUV32W4U7(13916714..14025116)
Chromosome:                  ChrX
OMIM number:                 300101
OMIM Information:            BONE MARROW KINASE, X-LINKED;BMX


Transcript Sequence (SEQ ID NO:25):
CCCGCCTCCTCTAGGCCGCCGGCCGCGAAGCGCTGAGTCACGCCCTCCATCCTCTACAGCTCAGCATCAGAACACTCTCTTTTTAGACTCCGATATGGGG
TCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGASGGTCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAATC
TGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCATCCACATCGAGGTTTTGAAACAGTATCCTACCTCCTGGA
AGGGGGCAGCATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTGCAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCT
GAGATGCCTTKCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGCYTCAGTACCAGGAACTGAAAA
GTGAAGAAATCCCTAAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCTGGGAATAAAGTCCAAGGTTTACACTCGCACACCAAC
CTTATATTTGGACTTCAAATTGGACCCAGGAGCCAAACATTCCCAACCTATCCCTAAAGGGTGGACAAGCTTCATTTACACGATATCTGGAGATGTGTAT
ATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCARGYGGAGAACAAGGATCCCAAGAGAA
GCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCAATGAAGAGATTTCTCAAGCTATTCT
TGATTTCAGAAACGCAAAAAATGGGTTTGAAAGGGCCAAAACCTGGAAATCAAAGATTGGGAACTAGTGGAAAGCGGAAGAGCAGGTCTTGATGTGTCCT
AGAATTTTGCCATTTCTGAGATTGAGCCATTGAAGGCATTCCATTTCTAAAGCTTATTTAGCCGGTGCTTCTAAAGAATTSCACACTAACGTGATAACAT
GGTTTTTGTAACAATAAATGTAGGATATTTCCTGGCACATGCAAATAAACCTAATCATTGTTTCTTTAAAAATCA

Protein Sequence    (SEQ ID NO:722):
MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRGFETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGIL
HAEMPCSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKVYTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGD
VYIGPDDAQQKIEPHHTAVLGEGDSVQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN


SNP Information

Context             (SEQ ID NO:1847):
CAGCATCAGAACACTCTCTTTTTAGACTCCGATATGGGGTCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGA
S
GGTCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAATCTGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCAT
Celera SNP ID:            hCV25631272
SNP Position Transcript:  162
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(G,34)   total(C,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 23, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:1848):
GGCCGGGGCATTCTGCACGCTGAGATGCCTTGCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGC
Y
TCAGTACCAGGAACTGAAAAGTGAAGAAATCCCTAAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCTGGGAATAAAGTCCAAG
Celera SNP ID:            hCV12120418
SNP Position Transcript:  480
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 129, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:1849):
TTTACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCA
R
GTGGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCA
Celera SNP ID:            hCV338228
SNP Position Transcript:  775
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,25)   caucasian(A,30|G,4)   total(A,41|G,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 227, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,5)      total(G,4|A,5) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 227, (Q,CAA)   (Q,CAG)      227, (Q,CAG)   (Q,CAA)      



Context             (SEQ ID NO:1850):
ATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTGCAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCTGAGATGCCTT
K
CTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGCCTCAGTACCAGGAACTGAAAAGTGAAGAAATC
Celera SNP ID:            hCV25765508
SNP Position Transcript:  411
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,1)   caucasian(G,6)   total(G,15|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 106, (C,TGC)   (F,TTC)   



Context             (SEQ ID NO:1851):
TACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAAAAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCAAG
Y
GGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCATTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCAAT
Celera SNP ID:            hCV25631294
SNP Position Transcript:  777
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,1|T,35)   total(C,5|T,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:722, 228, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:1852):
AGCAGGTCTTGATGTGTCCTAGAATTTTGCCATTTCTGAGATTGAGCCATTGAAGGCATTCCATTTCTAAAGCTTATTTAGCCGGTGCTTCTAAAGAATT
S
CACACTAACGTGATAACATGGTTTTTGTAACAATAAATGTAGGATATTTCCTGGCACATGCAAATAAACCTAATCATTGTTTCTTTAAAAATCA
Celera SNP ID:            hCV8816892
SNP Position Transcript:  1081
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:722, None   



Gene Number:                 9
Celera Gene:                 hCG15848 - 146000220474494
Celera Transcript:           hCT6878 - 146000220474495
Public Transcript Accession: NM_007348
Celera Protein:              hCP35549 - 197000064932342
Public Protein Accession:    NP_031374
Gene Symbol:                 ATF6
Protein Name:                activating transcription factor 6
Celera Genomic Axis:         GA_x5YUV32W2NG(94208..292030)
Chromosome:                  Chr1
OMIM number:                 605537
OMIM Information:            ACTIVATING TRANSCRIPTION FACTOR 6;ATF6


Transcript Sequence (SEQ ID NO:26):
GCARAAGTAGTTTGTCTTTAMTAGGCCACCGTCTCGTCAGCGTTACGGAGTATTTTGTCCGCCTGCCGCCGCCGTCCCAGATATTAATCACGGAGTTCCA
GGGAGAAGGAACTTGTGAAATGGGGGAGCCGGCTGGGGTTGCCGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTYTCACAGGCTGGATGAAGATTGG
GATTCTGCTCTCTTTGCTGAACTYGGTTATTTCACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTTG
ATTTTGATTTGGATTTGNTGCCTTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCYCAGCCACTTTC
TCCAGCCTCCTCAAGTTATTCAGTCTCRTCTCCTCGGTCAGTGGRCTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCT
CAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCASCGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGTYCTAGGAACAAGA
CTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAGCCCAAGCCTTTATTGCTTCCAGCAGCACCCAAGACTCAAAC
AAACTCCAGTGTTCCAGCAAAAACCATCATTATTCAGACAGTACCAACGCTTATGCCATTGGCAAAGCAGCAACCAATTATCAGTTTACAACCTGCACCC
ACTAAAGGCCAGACGGTTTTGCTGTCTCAGCCTACTGTGGTACAACTTCAAGCACCTGGAGTTCTGCCCTCTGCTCAGCCAGTCCTTGCTGTTGCTGGGG
GAGTCACACAGCTCCCTAATCACGTGGTGAATGTGGTACCAGCCCCTTCAGCGAATAGCCCAGTGAATGGAAAACTTTCCGTGACTAAACCTGTCCTACA
AAGTACCATGAGAAATGTCGGTTCAGATATTGCTGTGCTAAGGAGACAGCAACGTATGATAAAAAATCGAGAATCCGCTTGTCAGTCTCGCAAGAAGAAG
AAAGAATATATGCTAGGGTTAGAGGCGAGATTAAAGGCTGCCCTCTCASAAAACGAGCAACTGAAGAAAGAAAATGGAACACTGAAGCGGCAGCTGGATG
AAGTTGTGTCAGAGAACCAGAGGCTTAAAGTCCCTAGTCCAAAGCGAAGAGTTGTCTGTGTGATGATAGTATTGGCATTTATAATACTGAACTATGGACC
TATGAGCATGTTGGAACAGGATTCCAGGAGAATGAACCCTAGTGTGAGCCCTGCAAATCAAAGGAGGCACCTTCTAGGATTTTCTGCTAAAGAGGCACAG
GACACATCAGATGGTATTATCCAGAAAAACAGCTACAGATATGATCATTCTGTTTCAAATGACAAAGCCCTGATGGTGCTAACTGAAGAACCATTGCTTT
ACATTCCTCCACCTCCTTGTCAGCCCCTAATTAAYACAACAGAGTCTCTCAGGTTAAATCATGAACTTCGAGGATGGGTTCATAGACATGAAGTAGAAAG
GACCAAGTCWAGAAGAATGACAAATAATCAACAGAAAACCCGTATTCTTCAGGGTGCTCTGGAACAGGGCTCAAATTCTCAGCTGATGGCTGTTCAATAC
ACAGAAACCACTAGTAGTATCAGCAGGAACTCAGGGAGTGAGCTACAAGTGTATTATGCTTCACCCAGAAGTTATCAAGACTTTTTTGAAGCCATCCGCA
GAAGGGGAGACACATTTTATGTTGTGTCATTTCGAAGGGATCACCTGCTGTTACCAGCTACCACCCATAACAAGACCACAAGACCAAAAATGTCAATTGT
GTTACCAGCAATAAACATAAATGAGAATGTGATCAATGGGCAGGACTACGAAGTGATGATGCAGATTGACTGTCAGGTGATGGACACCAGGATCCTCCAT
ATCAAAAGTTCGTCRGTTCCTCCTTACCTCCGAGATCAGCAGAGGAATCAAACCAACACCTTCTTTGGCTCCCCTCCCGCAGCCACAGAGGCAACCCACG
TTGTCAGCACCATCCCTGAGTCATTACAATAGCACCCTGCAGCTATGCTGGAAAACTGAGCGTGGGACCCTGCCAGACTGAAGAGCAGGTGAGCAAAATG
CTGCTTTCTGCCTTGGTGGCAGGCAGAGAACTGTCTCGTACTAGAATTCAAGGAGRAAAGAAGAAGAAATAAAAGAAGCTGCTCCATTTTTCATCATCTA
CCCATCTATTTGGAAAGCACTGGAATTCAGATGCAAGAGAACAATGTTTCTTCAGTGGCAAATGTAGCCCTGCATCCTCCAGTGTTACCTGGTGTAGATT
TTTTTTTCTGTACCTTTCTAAACCTCTCTTCCCTCTGTGATGGTTTTGTGTTTAAACARTCATCTTCTTTTAAATAATATCCACCTCTCCTTTTTGCCAT
TTCACTTATTGATTCATAAAGTGAATTTTATTTAAAGCTATGCCACACATGCATGTTCAAATGGTTTCCACTGATTCGATTTTTCATTCATTTAATGCAA
ACCCATTCTGGATATTGTGCTTATTTGAGAAAACACATTTCAAAACCAGAAAAGCCAAAAACACTCCAAAAACAAGCAAAACAATTTGGAGCTTTAGATA
AAAGGAAAAACTCCCAGTTGGTAAAGTTTATCTTTACTTAGGATTTGTGGCTCACACCTAAACAAAGGGGGTCAGGGAGTGGGTACAAATTTGAGAAAAT
AGAAGGGTAAGGGAAGGGCCAGTGGTGGGGTTTGGAGAGAGGAGATAGCTCCATTAATACACATGTTTAAAAGATGGAAAGTTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGYGGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGACGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATGGAAAGTTCGATGTGACTGCAGTATGAGAT
TAAAGCCACAACTATTGTTTATTTTGGGGACTCTAGGCCACCAAGTATTAGCACACATACTTATGTTTTCTCTACTAATCTGGTCCAGGTCCTCATGGAC
CACAGGACAAAGCTTTCATTTTCATTCATTCTTCTATTGAAATTATACCAAATTCAGCTGAGGAATATGGAAGTAACTTTAGACTTAAACAAGACAAAAG
TTTTTTCACTGAAGAATTGACAAGTATTTGCTCCTTAAAACAAYGCAGATTAGTGAACGTGGATTCCTGCTGAGGGAGTGCATCCCATAATATGGCAATA
ATTTTCAGTTTCTCCAACGAAAAGATAGTGAAGGAATTAAATCTTTTGTCCTCCCATGGTTAAAAAAAAAAAAAAGCTGTGTTCATTTTTACTGTACTAT
GCCTCTTTTTTCACCATAGTAGACAATTATGTTTCATTTGATGAATTCATAGAACTGGATCTCATACAGCGATGTCCTCTCTAATGTTCTACCTTTCAGT
TTCTAAAGTGAGTCTTCCTCCCTCTCCTACAAAACTTTTCAATTTTTTGATGTAACTCATCTACAAATACTGTTTCTTACCCCAGTTGACTTGCCTTTGT
CAGATTTCTTCTTGTTCCACACTATAGCAATCAATTTCTCTTCTTCCTTACAAGAAAGGGAACGAGAAATTGTAGCAACCTCTCAAGGATTATATGCAGC
TAGTTAGTTTTCTGCCTGTGAAATTAGGTCTGGCTCCTAAATAATTTTAAAGAACCATCAGCACTTCTAACTCTCTGGACAGGTGCCTCTTTGTCCAAGC
TAGTTAAATGCTTTCCAAGGAAATCAGTTCAACTTTTGTGAGCGGGGAAAAGCAGGGCTTTATTGTTGTGTTACCTGGGAGTCTGGAGTTTGAAAAGTGC
TAATTAACCTTCCTCTTTTTCCACATTACAAACCTTTTTAAGCAGCGCAGCACTCCCYTTAGATTTGGCTATCCTGGGTGATTTTCAGACAAGAACCATT
TTCTCTGGGGACCATTCTTCTGCTGGGTGCCAAGGAATATAAGGCAAATGCCCAGAAGACCTTCAGGTGACTGGGCAGTCTTATCATGGGATATTTCTTC
TGGCCCTGCCCCTTCCCATTCTGTAATGTGAATTAGCCACACCAGAGGCTGTGACCATGGCTAGTAGACAGTGGCAACATAGTCATCCCCAAGATGCTAA
TCTTCTGCTGGRACTGTCATACGTTATCATGGTCAATGTAAACCTGGTTTGTGTGGGGTGATTATAAATAGAGTTTCCCTCCTCTCTGTGACAGAATCAC
AGGAGAAGGACCCATCTCGTGGCCTTCTTGTTCTTAGCGCTTCACTTTTACTTCATCCCTCGATTCCCAGCTTTTTCTATCATCATTTTRCCAACTCCTC
AGATGCAAGACTTTGGTTATGTCATACTCACCAACGTTAGTCCCTCTCTTCCAGGTGAAAAGGTGGGTAGCGGTTGGGAGGGAGTCTCCACTGAAGAGCA
GGAAGGTGGTAGCAGGGCCGGCAGCTCTGCCACAGAGCTAGGGGTGCCTGTAAGGTGCCGCCTAGAGCAGCCTGGGAGCTTTGCCTTCTTTTGTCTCTCA
CTAGCCCTTCTACTCTTTGTCATTGCCTGTTCTTGAGTGGATCTTTGARATGAGGGGACAGGATTCTCCTAAGGGTAGAGTTTCAGGAAATGAGTGAAAG
GCAATTGACAAATGCAAAGAAGTAGTCACTTTTTAAATTGCYGGCAAAGCTATAATTAATCCCTAGGCACAATTGTAGTTTTTATTTTAATGTTTGTATG
CACAAGGCCCTTTAGGAAATGAGAAGTTGCCATGCCAGATTAATTTTTTTTTTTTTTTTTGGTGGGATTGCCTTTTGGGGGTTGCAGCCAGAAATTGTGG
GTAATGTGTGTATTTTTTTATTTATTAAATTTTAAACAGGATTGTGCAAGCTTATGAGACAATTAGATAAACTCATGGAGGAGGCAGGTCCTCCTGTTAT
TAGATGATTTTGTGCTCTTKGGGCTGACAATAATACACTCTTGRGAAGTGATGGTAGAGACTGATGGGAATAGTCTTTCTGCCTGGTTGCAAGTCCCAAA
TTTTTAAGGSTTAATGGAAGTAAGTGGATGTTTCCTCATGTTAACTACTGAATCAGATGTTAGGAGCTTGTCCCTTTGGGGTTGACTTATGCCCAGCAGT
ACAGGGACACAGCTTCATTAGAGTGTTAGTGTAAACTAACTCCAAAGTTAGGAGTTAATGTGAAAGGATCATCCTTGAAACAARTCTGCTGTTTGCCATG
CTTGTAGTACAGAAACTTCACATGGAGTTTTGGGTGGGATTTGTGTTTTCACAAGTAAAAAATCCCTCACGATTATAAAACTCAGAGCATCATCTAATTT
TTTTTTTTAATGACTACAAGTTCCAGCACAAAACTGGCATTTCTTTGCCATTTCTTGCCAGTAAGAAGTTGACACGGAGGTATTTGAAAGCAATGTTATG
TGAGTCATTCTTAAGTGTTCCAAGTAAGTTTAGAAACAGAAAAGGAACTTGGGATTCAAATTGATTTTTCAAATCATTTTTAAAGAGACATCATCCTGAC
TAAATCTTAGCCTGAACCTTCCTCCCCTGTGTGTATTCCCCGGTAGTCACCGCAGCGAGATGCTGGTGAGACTGCCGTGGTGGCATTTAGCATCGTTAAA
ACTGGAAAACTCTCAAGCTCTTTGCCACTTTCCTACTATTTTTTGATTCTTGCCATTTTACCAAGCTTAGGTTGTGAAACTTGACAGAAATGTATTACAG
GAAAARCTTATAATTGTATTTGACTTTCTAACACATTGCAAAGTTTCAAAGTGACTTTCACTTTCAACAACATATTAGAAGTAACCACTTTTGCTTTCAC
AGCCTGAAGAGTTAGAGCCTGATCTGATGCCCCCTTTCACTCTGAAGTCATGGGAAATTTTCCAGCCATGAAAGCCCTCTTTCCACTGCATACTGATGGG
CTGACTCAGCTTCCTTCAGCCGACTGAGATCTTTTCATACTATTGGCTATTTCATACCAATTAACCTCTTAAATAAGATTGTGAATTGCCAAAATTGATA
GACACTTATTACCACCTGTGGACTCCATATTCCTTACCACAAATGTTATTTTCATCAGTCCTGAGTCATTTTAACTTACAGAAATTAGGATTGTTGCTGC
TAATATGAATACCAATTATAACTTTTAGAAACAAGAATAAAGCCTAAAAGAGAATGAAATATAAGAAATGTTCGTTCCCACCCCTAATAACATTTGGAAG
TGAATATTCCCATTTTCTTCCACCCACAGGGATTGGGATTGATTTTTAATTTCCTAGGAAACAATACTAGACTACCCAAAAAGATGTTGCCAGAATCCAA
AAGGAACTATGCTCGTAAAAGAAATGCAGTTTTCTCCTACCTAAAAAAAAGAAAGTAAAGTGTGTTCTGTTCTTATCTTTTTAATGACTAAGCTTTAAAC
AGTTTATTTTGGGTAAGACTAGAACTTTCRGCCATTTGTTCTAATATSTGTGTTATTAGATGCAATAGAATTTATGAAAAGAAGAATGACAAAGGTATCT
GATTAGAAAATTTGATCTTACGCATGAATCCATGTCATGGCCAGCCACTGTCACATAGTGGGTGCCATTCTCAACATATTGGTTTGCTAACTTTAAGCAT
TAGGGATTTAGCACACTAAAATACTTTTAATTATATTAGGTTTGGTAACTAAGGAGTAAATAAATCATAATTTATCATTTGCCAAGGCCAACAAACAACA
CTATTGTGCTGTTTGCTCTCAATGAAGTTGAATAAACCAGGAGGCTTGGCATATCCCCTTTATGTTAATCCCAGCTAGAGATTAGTAGGTTGACTTTCAC
AGCAATTGTATATTGATCCATTTTAACTCATCCTTGCCATAATTTCCAGGCCAGTCACCAGGACAGAGGAGATGATGGGGAAACAGAGCTTTAGATGAAA
ACTACTATGCACTACTAGCCTTAGAGGCACTGGTTTCCTGTTACCACTTTGGCAAGTATGGATGGTCTAAGTCCAGTAGGGCTTCATCCATGGAGCCATT
AGAACTGAGGGGGGAGTGTTAGAGATGCCATTTCACCAGGATCTTTTTGCTCAGGTTGTACCCATGCCAATTGAAGAACGTGTTAAAGATGAGGAGGAGA
GATGTACCATTCTCTCCCTTAATAATGATGTTGGTTTGCAAAACCTAAAGAAATAATAACAACAGACTATTTCATACTTTCAAGCAAGTCTTTATACTAC
CTGTTATTTCTCTAAAATTCAAATAAAGAATTTTTAAACTTA

Protein Sequence    (SEQ ID NO:723):
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSY
SVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPA
KTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNV
GSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQ
DSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRM
TNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAINI
NENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ


SNP Information

Context             (SEQ ID NO:1853):
TATACCAAATTCAGCTGAGGAATATGGAAGTAACTTTAGACTTAAACAAGACAAAAGTTTTTTCACTGAAGAATTGACAAGTATTTGCTCCTTAAAACAA
Y
GCAGATTAGTGAACGTGGATTCCTGCTGAGGGAGTGCATCCCATAATATGGCAATAATTTTCAGTTTCTCCAACGAAAAGATAGTGAAGGAATTAAATCT
Celera SNP ID:            hCV15755974
SNP Position Transcript:  3444
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1854):
ATTTATTAAATTTTAAACAGGATTGTGCAAGCTTATGAGACAATTAGATAAACTCATGGAGGAGGCAGGTCCTCCTGTTATTAGATGATTTTGTGCTCTT
K
GGGCTGACAATAATACACTCTTGGGAAGTGATGGTAGAGACTGATGGGAATAGTCTTTCTGCCTGGTTGCAAGTCCCAAATTTTTAAGGGTTAATGGAAG
Celera SNP ID:            hCV15755975
SNP Position Transcript:  5220
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,725|G,772)   total(G,772|T,725)no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1855):
AAAGAAAGTAAAGTGTGTTCTGTTCTTATCTTTTTAATGACTAAGCTTTAAACAGTTTATTTTGGGTAAGACTAGAACTTTCAGCCATTTGTTCTAATAT
S
TGTGTTATTAGATGCAATAGAATTTATGAAAAGAAGAATGACAAAGGTATCTGATTAGAAAATTTGATCTTACGCATGAATCCATGTCATGGCCAGCCAC
Celera SNP ID:            hCV15755976
SNP Position Transcript:  6748
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1856):
TTTTCTCCTACCTAAAAAAAAGAAAGTAAAGTGTGTTCTGTTCTTATCTTTTTAATGACTAAGCTTTAAACAGTTTATTTTGGGTAAGACTAGAACTTTC
R
GCCATTTGTTCTAATATCTGTGTTATTAGATGCAATAGAATTTATGAAAAGAAGAATGACAAAGGTATCTGATTAGAAAATTTGATCTTACGCATGAATC
Celera SNP ID:            hCV16191849
SNP Position Transcript:  6730
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1857):
GGGAGCCGGCTGGGGTTGCCGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTTTCACAGGCTGGATGAAGATTGGGATTCTGCTCTCTTTGCTGAACT
Y
GGTTATTTCACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTTGATTTTGATTTGGATTTGATGCCTT
Celera SNP ID:            hCV15860707
SNP Position Transcript:  224
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,32|T,4)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 35, (L,CTC)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 35, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:1858):
TTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCA
S
CGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGTCCTAGGAACAAGACTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTC
Celera SNP ID:            hCV22275523
SNP Position Transcript:  552
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(C,5|G,35)   total(C,9|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 145, (P,CCG)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 145, (P,CCG)   (A,GCG)      



Context             (SEQ ID NO:1859):
TGAACTCGGTTATTTCACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTTGATTTTGATTTGGATTTG
N
TGCCTTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTCAAGTTA
Celera SNP ID:            hCV25631983
SNP Position Transcript:  318
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,31|G,3)   total(A,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 67, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,359|T,744)   total(C,359|T,744) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 67, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:1860):
ATGCTTGTAGTACAGAAACTTCACATGGAGTTTTGGGTGGGATTTGTGTTTTCACAAGTAAAAAATCCCTCACGATTATAAAACTCAGAGCATCATCTAA
T
TTTTTTTTTTAATGACTACAAGTTCCAGCACAAAACTGGCATTTCTTTGCCATTTCTTGCCAGTAAGAAGTTGACACGGAGGTATTTGAAAGCAATGTTA
Celera SNP ID:            hCV9079338
SNP Position Transcript:  5598
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,4)   total(T,4|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1861):
ATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTCAAGTTATTCAGTCTCGTCTCCTCGGTCAGTGG
R
CTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTC
Celera SNP ID:            hCV26368340
SNP Position Transcript:  445
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 109, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:1862):
CAGATATTAATCACGGAGTTCCAGGGAGAAGGAACTTGTGAAATGGGGGAGCCGGCTGGGGTTGCCGGCACCATGGAGTCACCTTTTAGCCCGGGACTCT
Y
TCACAGGCTGGATGAAGATTGGGATTCTGCTCTCTTTGCTGAACTCGGTTATTTCACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTAT
Celera SNP ID:            hCV25631978
SNP Position Transcript:  178
SNP Source:               Applera
Population(Allele,Count): african american(T,26)   caucasian(C,1|T,37)   total(C,1|T,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 20, (S,TCT)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,33)   total(C,1|T,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 20, (S,TCT)   (F,TTT)   



Context             (SEQ ID NO:1863):
TGGTGGGGTTTGGAGAGAGGAGATAGCTCCATTAATACACATGTTTAAAAGATGGAAAGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG
Y
GGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGACGGGCGCC
Celera SNP ID:            hCV26368422
SNP Position Transcript:  2923
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1864):
TGTAAGGTGCCGCCTAGAGCAGCCTGGGAGCTTTGCCTTCTTTTGTCTCTCACTAGCCCTTCTACTCTTTGTCATTGCCTGTTCTTGAGTGGATCTTTGA
R
ATGAGGGGACAGGATTCTCCTAAGGGTAGAGTTTCAGGAAATGAGTGAAAGGCAATTGACAAATGCAAAGAAGTAGTCACTTTTTAAATTGCTGGCAAAG
Celera SNP ID:            hCV16029813
SNP Position Transcript:  4849
SNP Source:               dbSNP
Population(Allele,Count): JBIG-allele(G,706|A,775)   total(G,706|A,775)no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1865):
TCTTTGAGATGAGGGGACAGGATTCTCCTAAGGGTAGAGTTTCAGGAAATGAGTGAAAGGCAATTGACAAATGCAAAGAAGTAGTCACTTTTTAAATTGC
Y
GGCAAAGCTATAATTAATCCCTAGGCACAATTGTAGTTTTTATTTTAATGTTTGTATGCACAAGGCCCTTTAGGAAATGAGAAGTTGCCATGCCAGATTA
Celera SNP ID:            hCV353390
SNP Position Transcript:  4942
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1866):
GACAGAATCACAGGAGAAGGACCCATCTCGTGGCCTTCTTGTTCTTAGCGCTTCACTTTTACTTCATCCCTCGATTCCCAGCTTTTTCTATCATCATTTT
R
CCAACTCCTCAGATGCAAGACTTTGGTTATGTCATACTCACCAACGTTAGTCCCTCTCTTCCAGGTGAAAAGGTGGGTAGCGGTTGGGAGGGAGTCTCCA
Celera SNP ID:            hCV353391
SNP Position Transcript:  4590
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1867):
GTGCAAGCTTATGAGACAATTAGATAAACTCATGGAGGAGGCAGGTCCTCCTGTTATTAGATGATTTTGTGCTCTTTGGGCTGACAATAATACACTCTTG
R
GAAGTGATGGTAGAGACTGATGGGAATAGTCTTTCTGCCTGGTTGCAAGTCCCAAATTTTTAAGGGTTAATGGAAGTAAGTGGATGTTTCCTCATGTTAA
Celera SNP ID:            hCV27484222
SNP Position Transcript:  5244
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,350|G,1141)   total(G,1141|A,350) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1868):
GTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCAGCGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGT
Y
CTAGGAACAAGACTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAGCCCAAGCCTTTATTGCTTCCAGCAGCACC
Celera SNP ID:            hCV25631989
SNP Position Transcript:  588
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,35|T,5)   total(C,63|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 157, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:1869):
CTTTATTGTTGTGTTACCTGGGAGTCTGGAGTTTGAAAAGTGCTAATTAACCTTCCTCTTTTTCCACATTACAAACCTTTTTAAGCAGCGCAGCACTCCC
Y
TTAGATTTGGCTATCCTGGGTGATTTTCAGACAAGAACCATTTTCTCTGGGGACCATTCTTCTGCTGGGTGCCAAGGAATATAAGGCAAATGCCCAGAAG
Celera SNP ID:            hCV353392
SNP Position Transcript:  4158
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;JBIC-allele(T,715|C,768)   total(C,768|T,715)no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1870):
CTGAGCGTGGGACCCTGCCAGACTGAAGAGCAGGTGAGCAAAATGCTGCTTTCTGCCTTGGTGGCAGGCAGAGAACTGTCTCGTACTAGAATTCAAGGAG
R
AAAGAAGAAGAAATAAAAGAAGCTGCTCCATTTTTCATCATCTACCCATCTATTTGGAAAGCACTGGAATTCAGATGCAAGAGAACAATGTTTCTTCAGT
Celera SNP ID:            hCV353393
SNP Position Transcript:  2256
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,5)      total(G,5|A,5) ;no_pop(A,-|G,-)   ;POOLE|_CEPH(G,41|A,147)   total(G,41|A,147)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1871):
CTTCCCATTCTGTAATGTGAATTAGCCACACCAGAGGCTGTGACCATGGCTAGTAGACAGTGGCAACATAGTCATCCCCAAGATGCTAATCTTCTGCTGG
R
ACTGTCATACGTTATCATGGTCAATGTAAACCTGGTTTGTGTGGGGTGATTATAAATAGAGTTTCCCTCCTCTCTGTGACAGAATCACAGGAGAAGGACC
Celera SNP ID:            hCV16029815
SNP Position Transcript:  4412
SNP Source:               dbSNP
Population(Allele,Count): JBIG-allele(G,382|A,1107)   total(G,382|A,1107)no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1872):
AAAACTCTCAAGCTCTTTGCCACTTTCCTACTATTTTTTGATTCTTGCCATTTTACCAAGCTTAGGTTGTGAAACTTGACAGAAATGTATTACAGGAAAA
R
CTTATAATTGTATTTGACTTTCTAACACATTGCAAAGTTTCAAAGTGACTTTCACTTTCAACAACATATTAGAAGTAACCACTTTTGCTTTCACAGCCTG
Celera SNP ID:            hCV353386
SNP Position Transcript:  6006
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1873):
ACAGATATGATCATTCTGTTTCAAATGACAAAGCCCTGATGGTGCTAACTGAAGAACCATTGCTTTACATTCCTCCACCTCCTTGTCAGCCCCTAATTAA
Y
ACAACAGAGTCTCTCAGGTTAAATCATGAACTTCGAGGATGGGTTCATAGACATGAAGTAGAAAGGACCAAGTCAAGAAGAATGACAAATAATCAACAGA
Celera SNP ID:            hCV9620281
SNP Position Transcript:  1535
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 472, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1874):
GACTTATGCCCAGCAGTACAGGGACACAGCTTCATTAGAGTGTTAGTGTAAACTAACTCCAAAGTTAGGAGTTAATGTGAAAGGATCATCCTTGAAACAA
R
TCTGCTGTTTGCCATGCTTGTAGTACAGAAACTTCACATGGAGTTTTGGGTGGGATTTGTGTTTTCACAAGTAAAAAATCCCTCACGATTATAAAACTCA
Celera SNP ID:            hCV353388
SNP Position Transcript:  5484
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   JBIC-allele(G,720|A,773)   total(G,720|A,773) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1875):
GCAACGTATGATAAAAAATCGAGAATCCGCTTGTCAGTCTCGCAAGAAGAAGAAAGAATATATGCTAGGGTTAGAGGCGAGATTAAAGGCTGCCCTCTCA
S
AAAACGAGCAACTGAAGAAAGAAAATGGAACACTGAAGCGGCAGCTGGATGAAGTTGTGTCAGAGAACCAGAGGCTTAAAGTCCCTAGTCCAAAGCGAAG
Celera SNP ID:            hCV26368356
SNP Position Transcript:  1149
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:723, 344, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:1876):
CACCTCCTTGTCAGCCCCTAATTAACACAACAGAGTCTCTCAGGTTAAATCATGAACTTCGAGGATGGGTTCATAGACATGAAGTAGAAAGGACCAAGTC
W
AGAAGAATGACAAATAATCAACAGAAAACCCGTATTCTTCAGGGTGCTCTGGAACAGGGCTCAAATTCTCAGCTGATGGCTGTTCAATACACAGAAACCA
Celera SNP ID:            hCV26368381
SNP Position Transcript:  1610
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 497, (S,TCA)   (S,TCT)      



Context             (SEQ ID NO:1877):
TTGTGCTCTTTGGGCTGACAATAATACACTCTTGGGAAGTGATGGTAGAGACTGATGGGAATAGTCTTTCTGCCTGGTTGCAAGTCCCAAATTTTTAAGG
S
TTAATGGAAGTAAGTGGATGTTTCCTCATGTTAACTACTGAATCAGATGTTAGGAGCTTGTCCCTTTGGGGTTGACTTATGCCCAGCAGTACAGGGACAC
Celera SNP ID:            hCV353389
SNP Position Transcript:  5310
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,4)      total(G,4|C,2) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1878):
GCAAAAGTAGTTTGTCTTTA
M
TAGGCCACCGTCTCGTCAGCGTTACGGAGTATTTTGTCCGCCTGCCGCCGCCGTCCCAGATATTAATCACGGAGTTCCAGGGAGAAGGAACTTGTGAAAT
Celera SNP ID:            hCV27836313
SNP Position Transcript:  21
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(A,1|C,39)   total(A,1|C,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:723, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(A,1|C,31)   total(A,1|C,63)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:723, None



Context             (SEQ ID NO:1879):
ACATAAATGAGAATGTGATCAATGGGCAGGACTACGAAGTGATGATGCAGATTGACTGTCAGGTGATGGACACCAGGATCCTCCATATCAAAAGTTCGTC
R
GTTCCTCCTTACCTCCGAGATCAGCAGAGGAATCAAACCAACACCTTCTTTGGCTCCCCTCCCGCAGCCACAGAGGCAACCCACGTTGTCAGCACCATCC
Celera SNP ID:            hCV9620376
SNP Position Transcript:  2015
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 632, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:1880):
CAAATGTAGCCCTGCATCCTCCAGTGTTACCTGGTGTAGATTTTTTTTTCTGTACCTTTCTAAACCTCTCTTCCCTCTGTGATGGTTTTGTGTTTAAACA
R
TCATCTTCTTTTAAATAATATCCACCTCTCCTTTTTGCCATTTCACTTATTGATTCATAAAGTGAATTTTATTTAAAGCTATGCCACACATGCATGTTCA
Celera SNP ID:            hCV9620377
SNP Position Transcript:  2459
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1881):
GCA
R
AAGTAGTTTGTCTTTACTAGGCCACCGTCTCGTCAGCGTTACGGAGTATTTTGTCCGCCTGCCGCCGCCGTCCCAGATATTAATCACGGAGTTCCAGGGA
Celera SNP ID:            hCV16188132
SNP Position Transcript:  4
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,28)   caucasian(A,5|G,35)   total(A,7|G,63)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:723, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(A,4|G,30)   total(A,5|G,55)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:723, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,132|G,1351)   total(G,1351|A,132)   no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:723, None   



Context             (SEQ ID NO:1882):
TTGATAATCTTGATTTTGATTTGGATTTGATGCCTTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACC
Y
CAGCCACTTTCTCCAGCCTCCTCAAGTTATTCAGTCTCGTCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGT
Celera SNP ID:            hCV1498763
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(C,4|T,30)   total(C,7|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 90, (P,CCC)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 90, (P,CCC)   (P,CCT)      90, (P,CCT)   (P,CCC)      



Context             (SEQ ID NO:1883):
AGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTCAAGTTATTCAGTCTC
R
TCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTG
Celera SNP ID:            hCV1498764
SNP Position Transcript:  428
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,4|G,30)   total(A,9|G,61)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 103, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,6)      total(G,6|A,1) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:723, 103, (S,TCA)   (S,TCG)      103, (S,TCG)   (S,TCA)      



Gene Number:                 10
Celera Gene:                 hCG16212 - 116000144873121
Celera Transcript:           hCT7244 - 116000144873122
Public Transcript Accession: NM_002152
Celera Protein:              hCP35265 - 197000069371885
Public Protein Accession:    NP_002143
Gene Symbol:                 HRC
Protein Name:                histidine rich calcium binding protein
Celera Genomic Axis:         GA_x5YUV32VSLL(1195030..1199250)
Chromosome:                  Chr19
OMIM number:                 142705
OMIM Information:            HISTIDINE-RICH CALCIUM-BINDING PROTEIN;HRC


Transcript Sequence (SEQ ID NO:27):
GAGGGGTGTCCAGAGCCAGGCAGCAAGGACCAGAGGAAGGTGGACAGAGACCGAAAGGACAAAGGAGAGACACAGAGAAAAAAAGAGACCAACCCCAAAG
GGACAAAGACCCCAACGTTTGTCCACATTGCCGCAGAGGCAGCTGGAGCCAGTGCTGCCTGTCCGTCCCCATGGGCCACCATAGGCCATGGCTGCACRCT
TCTGTCCTCTGGGCTGGGGTGGCCAGCCTGCTCCTCCCCCYGGCCATGACCCAGCAGCTCAGAGGGGATGGGCTRGGCTTCAGAAACCGGAACAACARCA
CTGGAGTCGCCGGGCTCTCCGAGGAGGCATCAGCAGAGCTTCGCCACCACCTCCACAGCCCTAGAGACCATCCAGATGAGAACAAGGATGTTTCCACAGA
GAATGGGCATCATTTCTGGAGCCACCCAGACCGTGAAAAGGAGGATGAAGATGTCKCCAAGGAATATGGGCACCTACTCCCAGGCCACAGGTCCCAAGAC
CACAAAGTCGGAGATGAGGGTGTCTCAGGTGAGGAGGTCTTTGCAGAGCATGGTGGGCAGGCCCGTGGGCACAGAGGCCAYGGGAGTGAAGACACGGAAG
ACTCAGCTGAGCACAGGCACCACCTCCCCAGCCACAGGAGCCACAGCCATCAAGACGAGGATGAGGATGAAGTTGTGTCCAGTGAGCATCACCATCATAT
CCTCAGGCATGGACACCGAGGCCATGATGGGGAAGATGATGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGCCTCCACTGAGTAT
GGACACCAGGCCCACAGGCACCGAGGCCATGGGAGTGAAGAGGATGAGGATGTCTCAGATGGACACCATCATCATGGCCCCAGCCACAGGCACCAAGGCC
ATGAAGAAGATGACGATGATGATGATGATGATGATGATGATGATGATGATGATGTCTCCATTGAATATAGACACCAGGCTCACAGGCACCAAGGCCACGG
GATTGAAGAGGATGAAGATGTCTCAGATGGACACCATCATCGCGACCCCAGCCACAGGCACCGAAGCCATGAAGAAGATGACAATGATGATGATGATGTC
TCCACTGAGTATGGACACCAGGCCCACAGGCACCAAGACCACAGAAAGGAAGAGGTTGAGGCTGTCTCAGGTGAACACCACCATCATGTCCCTGACCACA
GGCACCAAGGCCACAGAGACGAGGAAGAAGATGAGGATGTGTCCACTGAACGTTGGCACCAGGGTCCCCAACATGTCCACCATGGCCTTGTAGATGAGGA
AGAGGAAGAAGAGGAGATCACAGTCCAGTTYGGCCACTATGTTGCAAGCCACCAACCTCGAGGCCACAAGAGTGATGAAGAGGACTTCCAAGATGAGTAT
AAAACAGAAGTCCCTCACCATCACCACCACAGAGTCCCCAGGGAGGAAGATGAGGAGGTCTCTGCTGAGCTTGGCCACCAGGCCCCCAGCCACAGGCAAA
GCCACCAAGATGAAGAAACTGGCCATGGTCAAAGAGGGTCCATCAAAGAGATGAGCCATCACCCCCCAGGACACACAGTGGTCAAGGATAGAAGCCATTT
GAGGAAGGATGATTCTGAGGAGGAAAAGGAGAAGGAAGAGGACCCCGGCTCCCATGAGGAAGACGATGAAAGTTCAGAGCAGGGAGAGAAAGGCACCCAT
CATGGCAGCCGGGACCAGGAAGATGAGGAGGATGAGGAGGAAGGTCATGGCCTCAGCCTGAACCAGGAGGAGGAAGAAGAGGAAGACAAGGAGGAGGAGG
AGGAGGAAGAAGACGAGGAGAGGAGGGAAGAGAGGGCTGAGGTTGGGGCCCCACTGAGCCCAGACCACAGCGAGGAGGAAGAGGAGGAGGAGGAGGGGCT
GGAGGAAGATGAGCCCCGCTTCACCATCATCCCCAACCCACTGGACAGGAGAGAGGAGGCTGGAGGTGCCTCCAGCRAGGAGGAAAGCGGTGAGGACACA
GGTCCACAGGATGCTCAGGAGTATGGGAACTACCAGCCAGGGTCCCTGTGTGGCTACTGCTCCTTCTGCAATCGATGCACTGAATGTGAGAGCTGTCACT
GTGATGAGGAGAACATGGGTGAGCACTGCGACCAGTGCCAGCACTGTCAGTTCTGCTATCTCTGCCCGCTGGTCTGCGAAACGGTCTGCGCTCCAGGAAG
CTACGTTGACTATTTCTCCTCGTCCCTTTATCAGGCCCTGGCAGACATGCTGGAAACGCCGGAACCCTGACCCAGTCGCTCGACTGCGACGCAGGTGTAC
CTCCCCCTGCCTTCCAACCCCTTTCCACGAGCTATATTTATTTCTCCGAATAAACGTGCTCCCCGAAACCTCATT

Protein Sequence    (SEQ ID NO:724):
MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNNTGVAGLSEEASAELRHHLHSPRDHPDENKDVSTENGHHFWSHPDREKEDEDVAKEYG
HLLPGHRSQDHKVGDEGVSGEEVFAEHGGQARGHRGHGSEDTEDSAEHRHHLPSHRSHSHQDEDEDEVVSSEHHHHILRHGHRGHDGEDDEGEEEEEEEE
EEEEEASTEYGHQAHRHRGHGSEEDEDVSDGHHHHGPSHRHQGHEEDDDDDDDDDDDDDDDVSIEYRHQAHRHQGHGIEEDEDVSDGHHHRDPSHRHRSH
EEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSGEHHHHVPDHRHQGHRDEEEDEDVSTERWHQGPQHVHHGLVDEEEEEEEITVQFGHYVASHQPRGHK
SDEEDFQDEYKTEVPHHHHHRVPREEDEEVSAELGHQAPSHRQSHQDEETGHGQRGSIKEMSHHPPGHTVVKDRSHLRKDDSEEEKEKEEDPGSHEEDDE
SSEQGEKGTHHGSRDQEDEEDEEEGHGLSLNQEEEEEEDKEEEEEEEDEERREERAEVGAPLSPDHSEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGGA
SSEEESGEDTGPQDAQEYGNYQPGSLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQFCYLCPLVCETVCAPGSYVDYFSSSLYQALADMLETPEP


SNP Information

Context             (SEQ ID NO:1884):
GCTTCTGTCCTCTGGGCTGGGGTGGCCAGCCTGCTCCTCCCCCCGGCCATGACCCAGCAGCTCAGAGGGGATGGGCTGGGCTTCAGAAACCGGAACAACA
R
CACTGGAGTCGCCGGGCTCTCCGAGGAGGCATCAGCAGAGCTTCGCCACCACCTCCACAGCCCTAGAGACCATCCAGATGAGAACAAGGATGTTTCCACA
Celera SNP ID:            hCV2885905
SNP Position Transcript:  298
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,6)   caucasian(A,18|G,20)   total(A,26|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 43, (N,AAC)   (S,AGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3)Caucasian(A,104|G,206)   Chinese(A,17|G,41)   Japanese(A,6|G,14)   African(G,43|A,55)    ;JBIC-allele(A,477|G,1006)   total(G,1006|A,477)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 43, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:1885):
AAGGGACAAAGACCCCAACGTTTGTCCACATTGCCGCAGAGGCAGCTGGAGCCAGTGCTGCCTGTCCGTCCCCATGGGCCACCATAGGCCATGGCTGCAC
R
CTTCTGTCCTCTGGGCTGGGGTGGCCAGCCTGCTCCTCCCCCCGGCCATGACCCAGCAGCTCAGAGGGGATGGGCTGGGCTTCAGAAACCGGAACAACAA
Celera SNP ID:            hCV25633958
SNP Position Transcript:  198
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(G,38)   total(A,3|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 10, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:1886):
GCCACCATAGGCCATGGCTGCACGCTTCTGTCCTCTGGGCTGGGGTGGCCAGCCTGCTCCTCCCCCCGGCCATGACCCAGCAGCTCAGAGGGGATGGGCT
R
GGCTTCAGAAACCGGAACAACAACACTGGAGTCGCCGGGCTCTCCGAGGAGGCATCAGCAGAGCTTCGCCACCACCTCCACAGCCCTAGAGACCATCCAG
Celera SNP ID:            hCV2885906
SNP Position Transcript:  275
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,9)   caucasian(A,19|G,17)   total(A,28|G,26)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:724, 35, (L,CTA)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(G,382|A,891)   total(G,382|A,891)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:724, 35, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:1887):
AGCTGGAGCCAGTGCTGCCTGTCCGTCCCCATGGGCCACCATAGGCCATGGCTGCACGCTTCTGTCCTCTGGGCTGGGGTGGCCAGCCTGCTCCTCCCCC
Y
GGCCATGACCCAGCAGCTCAGAGGGGATGGGCTGGGCTTCAGAAACCGGAACAACAACACTGGAGTCGCCGGGCTCTCCGAGGAGGCATCAGCAGAGCTT
Celera SNP ID:            hCV25633959
SNP Position Transcript:  241
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,1)   caucasian(C,38)   total(C,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 24, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:1888):
GGAAGAGGAGGAGGAGGAGGGGCTGGAGGAAGATGAGCCCCGCTTCACCATCATCCCCAACCCACTGGACAGGAGAGAGGAGGCTGGAGGTGCCTCCAGC
R
AGGAGGAAAGCGGTGAGGACACAGGTCCACAGGATGCTCAGGAGTATGGGAACTACCAGCCAGGGTCCCTGTGTGGCTACTGCTCCTTCTGCAATCGATG
Celera SNP ID:            hCV25633960
SNP Position Transcript:  1977
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,22)   caucasian(G,40)   total(A,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 603, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:1889):
CAGCCCTAGAGACCATCCAGATGAGAACAAGGATGTTTCCACAGAGAATGGGCATCATTTCTGGAGCCACCCAGACCGTGAAAAGGAGGATGAAGATGTC
K
CCAAGGAATATGGGCACCTACTCCCAGGCCACAGGTCCCAAGACCACAAAGTCGGAGATGAGGGTGTCTCAGGTGAGGAGGTCTTTGCAGAGCATGGTGG
Celera SNP ID:            hCV11506744
SNP Position Transcript:  456
SNP Source:               Applera
Population(Allele,Count): african american(G,5|T,5)   caucasian(G,16|T,20)   total(G,21|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 96, (A,GCC)   (S,TCC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,18)   caucasian(G,17|T,21)   total(G,23|T,39)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 96, (A,GCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,5)      total(G,5|T,1) ;JBIC-allele(G,407|T,1072)   total(G,407|T,1072)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:724, 96, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:1890):
ATGAGGATGTGTCCACTGAACGTTGGCACCAGGGTCCCCAACATGTCCACCATGGCCTTGTAGATGAGGAAGAGGAAGAAGAGGAGATCACAGTCCAGTT
Y
GGCCACTATGTTGCAAGCCACCAACCTCGAGGCCACAAGAGTGATGAAGAGGACTTCCAAGATGAGTATAAAACAGAAGTCCCTCACCATCACCACCACA
Celera SNP ID:            hCV2885904
SNP Position Transcript:  1331
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;JBIC-allele(T,28|C,1465)   total(C,1465|T,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:724, 387, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:1891):
CAGGCCACAGGTCCCAAGACCACAAAGTCGGAGATGAGGGTGTCTCAGGTGAGGAGGTCTTTGCAGAGCATGGTGGGCAGGCCCGTGGGCACAGAGGCCA
Y
GGGAGTGAAGACACGGAAGACTCAGCTGAGCACAGGCACCACCTCCCCAGCCACAGGAGCCACAGCCATCAAGACGAGGATGAGGATGAAGTTGTGTCCA
Celera SNP ID:            hCV25633957
SNP Position Transcript:  581
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,5)   caucasian(C,37|T,1)   total(C,48|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:724, 137, (H,CAC)   (H,CAT)   



Gene Number:                 11
Celera Gene:                 hCG1640452 - 104000117025026
Celera Transcript:           hCT1640579 - 104000117025027
Public Transcript Accession: NM_000257
Celera Protein:              hCP1613750 - 197000069452932
Public Protein Accession:    NP_000248
Gene Symbol:                 MYH6
Protein Name:                myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1);MYHC;MYHCA
Celera Genomic Axis:         GA_x5YUV32VVQK(29369130..29394461)
Chromosome:                  Chr14
OMIM number:                 160710
OMIM Information:            MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA;MYH6


Transcript Sequence (SEQ ID NO:28):
GGGAAGCACCAAGATGACCGATGCCCAGATGGCTGACTTTGGGGCAGCGGCCCAGTACCTCCGCAAGTCAGAGAAGGAGCGTCTAGAGGCCCAGACCCGG
CCCTTTGACATTCGCACTGAGTGCTTCGTGCCCGATGACAAGGAAGAGTTTGTCAAAGCCAAGATTTTGTCCCGGGAGRGAGGCAAGGTCATTGCTGAAA
CCGAGAATGGGAAGACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATTSAGGACATGGCCATGCTGACCTTCCT
GCACGAGCCCGCGGTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATATACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAG
TGGCTRCCGGTGTACAATGCCGARGTGGTGGCCGCCTACMGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATC
AGTACATGCTGACAGATCGGGAGAACCAGTCCATCCTCATCACGGGAGAATCCGGGGCGGGGAAGACTGTGAACACCAAGCGTGTCATCCAGTACTTTGC
CAGCATTGCAGCCATAGGTGACCGTGGCAAGAAGGACAATGCCAATGCGAACAAGGGCACCCTGGAGGACCAGATCATCCAGGCCAACCCCGCTCTGGAG
GCCTTCGGCAATGCCAAGACTGTCCGGAACGACAACTCCTCCCGCTTTGGGAAATTCATTAGGATCCACTTTGGGGCCACTGGAAAGCTGGCTTCTGCAG
ACATAGAGACCTACCTGCTGGARAAGTCCCGGGTGATCTTCCAGCTGAAAGCTGAGAGAAACTACCACATCTTCTACCAGATTCTGTCCAACAAGAAGCC
GGAGTTGCTGGACATGCTGCTGGTCACCAACAATCCCTACGACTACGCCTTCGTGTCTCAGGGAGAGGTGTCCGTGGCCTCCATTGATGACTCCGAGGAG
CTCATGGCCACCGATAGTGCCTTTGACGTGCTGGGCTTCACTTCAGAGGAGAAAGCTGGCGTCTACAAGCTGACGGGAGCCATCATGCACTACGGGAACA
TGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGCMMGASGGCACCGAAGATGCTGACAAGTCGGCCTACCTCATGGGGCTGAACTCAGCTGACCT
GCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAACGAGTATGTCACCAAGGGGCAGAGCGTGCAGCAGGTGTACTACTCCATYGGGGCTCTGGCC
AAGGCAGTGTATGAGAAGATGTTCAACTGGATGGTGACGCGCATCAAYGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTGGACA
TCGCTGGCTTCGAGATCTTCGACTTCAACAGCTTTGAGCAGCTCTGCATCAACTTCACCAACGAGAAGCTGCAGCAGTTCTTCAACCACCACATGTTCGT
GCTGGAGCAGGAGGAGTACAAGAAGGAGGGCATTGAGTGGACATTCATTGACTTTGGCATGGACCTGCAGGCCTGCATTGACCTCATCGAGAAGCCCATG
GGCATCATGTCCATCCTGGAGGAGGAGTGCATGTTCCCCAAGGCCACTGACATGACCTTCAAGGCCAAGCTGTACGACAACCACCTGGGCAAGTCCAACA
ATTTCCAGAAGCCACGCAACATCAAGGGGAAGCAGGAAGCCCACTTCTCCCTGATCCACTACGCCGGCACTGTGGACTACAACATCCTGGGCTGGCTGGA
AAAAAACAAGGATCCTCTCAACGAGACTGTTGTGGCCCTGTACCAGAAGTCCTCCCTCAAGCTCATGGCCACTCTCTTCTCCTCCTACGCAACTGCCGAT
ACTGGGGACAGTGGTAAAAGCAAAGGAGGCAAGAAAAAGGGCTCATCCTTCCAGACGGTGTCGGCTCTCCACCGGGAAAATCTCAACAAGCTAATGACCA
ACCTGAGGACCACCCATCCTCACTTTGTGCGTTGCATCATCCCCAATGAGCGGAAGGCTCCAGGGGTGATGGACAACCCCCTGGTCATGCACCAGCTGCG
CTGCAATGGCGTGCTGGAGGGCATCCGCATCTGCAGGAAGGGCTTCCCCAACCGCATCCTCTACGGGGACTTCCGGCAGAGGTATCGCATCCTGAACCCA
GTGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAGGGGACAGAGAAGCTGCTCAGCTCTCTGGACATTGATCACAACCAGTACAAGTTTGGCCACA
CCAAGGTGTTCTTCAAGGCAGGGCTGCTTGGGCTGCTGGAGGAGATGCGGGATGAGAGGMTGAGCCGCATCATCACGCGCATGCAGGCCCAAGCCCRGGG
CCAGCTCATGCGCATTGAGTTCAAGAAGATAGTGGAACGCAGGGATGCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCATGGGGGTCAAGAATTGG
CCCTGGATGAAGCTCTACTTCAAGATCAAGCCGCTGCTGAAGAGCGCAGAGACGGAGAAGGAGATGGCCACCATGAAGGAAGAGTTCGGGCGCATCAAAG
AGACGCTGGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGACCTGCAGCTCCAAGTGCAGGCGGA
ACAAGACAACCTCAATGATGCTGAGGAGCGCTGCGACCAGCTGATCAAAAACAAGATTCAGCTGGAGGCCAAAGTAAAGGAGATGAATGAGAGGCTGGAG
GATGAGGAGGAGATGAACGCGGAGCTCACTGCCAAGAAGCGCAAGYTGGAAGACGAGTGCTCAGAGCTCAAGAAGGACATTGATGACCTGGAGCTGACAC
TGGCCAAGGTGGAGAAGGAGAAGCATGCAACAGAGAACAAGGTGAAGAACCTAACAGAGGAGATGGCTGGGCTGGATGAAATCATCGCTAAGCTGACCAA
GGAGAAGAAAGCTCTACAAGAGGCCCATCAGCAGGCCCTGGATGACCTTCAGGTTGAGGAAGACAAGGTCAACAGCCTGTCCAAGTCTAAGGTCAAGCTG
GAGCAGCAGGTGGATGATCTGGAGGGATCCCTAGAGCAAGAGAAGAAGGTGCGCATGGACCTGGAGCGAGCAAAGCGGAAACTGGAGGGCGACCTGAAGC
TGACCCAGGAGAGCATCATGGACCTGGAAAATGATAAACTGCAGCTGGAAGAAAAGCTTAAGAAGAAGGAGTTTGACATTAATCAGCAGAACAGTAAGAT
TGAGGATGAGCAGGYGCTGGCCCTTCAACTACAGAAGAAACTGAAGGAAAACCAGGCACGCATCGAGGAGCTGGAGGAGGAGCTGGAGGCCGAGCGCACC
RCCAGGGCTAAGGTGGAGAARCTGCGCTCAGACCTGTCTCGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCCGTGCAGA
TCGAGATGAACAAGAAGCGCGAGGCCGAGTTCCAGAAGATGCGGCGGGACCTGGAGGAGGCCACGCTGCAGCACGAGGCCACTGCCGCGGCCCTGCGCAA
GAAGCACGCCGACAGCGTGGCCGAGCTGGGCGAGCAGATCGACAACCTGCAGCGGGTGAAGCAGAAGCTGGAGAAGGAGAAGAGCGAGTTCAAGCTGGAG
CTGGATGACGTCACCTCCAACATGGAGCAGATCATCAAGGCCAAGGCAGCAAACCTGGAGAAAGTGTCTCGGACGCTGGAGGACCAGGCCAATGAGTACC
GCGTGAAGCTAGAAGAGGCCCAACGCTCCCTCAATGATTTCACCACCCAGCGAGCCAAGCTGCAGACCGAGAATGGAGAGTTGGCCCGGCAGCTAGAGSA
AAAGGAGGCGCTAATCTCGCAGCTGACCCGGGGGAAGCTCTCTTATACCCAGCAAATGGAGGACCTCAAAAGGCAGCTGGAGGAGGAGGGCAAGGCGAAG
AACGCCCTGGCCCATGCACTGCAGTCRGCCCGGCATGACTGCGACCTGCTGCGGGAGCAGTACGAGGAGGAGACAGAGGCCAAGGCCGAGCTGCAGCGCG
TCCTGTCCAAGGCCAACTCGGAGGTGGCCCAGTGGAGGACCAAGTATGAGACGGACGCCATTCAGCGGACTGAGGAGCTCGAAGAGGCCAAAAAGAAGCT
GGCCCAGCGGCTGCAGGATGCCGAGGAGGCCGTGGAGGCTGTTAATGCCAAGTGCTCCTCACTGGAGAAGACCAAGCACCGGCTACAGAATGAGATAGAG
GACTTGATGGTGGACGTAGAGCGCTCCAAYGCYGCTGCTGCAGCCCTGGACAAGAAGCAGAGAAACTTTGACAAGATCCTGGCCGAGTGGAAGCAGAAGT
ATGAGGAGTCGCAGTCTGAGCTGGAGTCCTCACAGAAGGAGGCTCGCTCCCTCAGCACAGAGCTCTTCAAGCTCAAGAACGCCTACGAGGAGTCCCTGGA
GCACCTAGAGACCTTCAAGCGGGAGAACAAGAACCTTCAGGARGAAATCTCGGACCTTACTGAGCAGCTAGGAGAAGGAGGAAAGAATGTGCATGAGCTG
GAGAAGGTCCKCAAACAGCTGGAGGTGGAGAAGCTGGAGCTGCAGTCAGCCCTGGAGGAGGCAGAGGCCTCCCTGGAGCACGAGGAGGGCAAGATCCTCC
GGGCCCAGCTAGAGTTCAACCAGATCAAGGCAGAGATCGAGCGGAAGCTGGCAGAGAAGGACGAGGAGATGGAACAGGCCAAGCGCAACCACCWGCGGGT
GGTGGACTCGCTGCAGACCTCCCTGGATGCAGAGACACGCAGCCGCAACGAGGYCCTGAGGGTGAAGAAGAAGATGGAAGGAGACCTCAATGAGATGGAG
ATCCAGCTCAGCCAYGCCAACCGCATGGCYGCCGAGGCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGCTGAAGGACACCCAGATCCAGCTGGAYGATG
CGGTCCGTGCCAACGACGACCTGAAGGAGAACATCGCCATCGTGGAGCGGCGCAACAACCTGCTGCAGGCTGAGCTGGAGGAGCTGCGTGCCGTGGTGGA
GCAGACAGAGCGGTCCCGGAAGCTGGCGGAGCAGGAGCTGATTGAGACCAGCGAGCGGGTGCAGCTGCTGCATTCCCAGAACACCAGCCTCATCAACCAG
AAGAAGAAGATGGAGTCKGAYCTGWCCCAGCTCCAGTCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGCYGAGGAGAAGGCCAAGAAGGCCATCA
CGGATGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAGCGCATGAAGAAGAACATGGAGCAGACCATTAAGGACCT
GCAGCACCGGCTGGACGAGGCCGAGCAGATCGCCCTCAAGGGAGGCAAGAAGCAGCTGCAGAAGCTGGAAGCGCGGGTGCGGGAGCTGGAGGGTGAGCTG
GAGGCCGAGCAGAAGCGCAACGCAGAGTCGGTGAAGGGCATGAGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAGACAGAGGAAGACAAAAAGA
ACCTGCTGCGGCTACAGGACCTGGTGGACAAGCTGCAACTGAAGGTCAAGGCCTACAAGCGCCAGGCCGAGGAGGCGGAGGAGCAAGCCAACACCAACCT
GTCCAAGTTCCRCAAGGTGCAGCATGAGCTGGATGAGGCAGAGGAGCGGGCGGACATCGCTGAGTCCCAGGTCAACAAGCTTCGAGCCAAGAGCCGTGAC
ATTGGTGCCAAGCAAAAAATGCACGATGAGGAGTGACACTGCCTCGGGAACCTCACTCTTGCCAACCTGTAATAAATATGAGTGCCAAACTCTGCCTGAG
CCCATCTGTCCTTCCTGCCAGCTGTCCATCCTGGATCAGGGCAGTAGGGGGCCTGAGAGGAGGGAGGCCCCCAGCCCCTGTATCA

Protein Sequence    (SEQ ID NO:725):
MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPA
VLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAA
IGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGL
CHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQE
EYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGV
LEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMR
IEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKA
LQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQ
VLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKAANLEKVSRTLEDQANEYRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEAL
ISQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRL
QDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLET
FKRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSL
QTSLDAETRSRNEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTER
SRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQSEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRL
DEAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFR
KVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE


SNP Information

Context             (SEQ ID NO:1892):
ACCTTCAAGCGGGAGAACAAGAACCTTCAGGAGGAAATCTCGGACCTTACTGAGCAGCTAGGAGAAGGAGGAAAGAATGTGCATGAGCTGGAGAAGGTCC
K
CAAACAGCTGGAGGTGGAGAAGCTGGAGCTGCAGTCAGCCCTGGAGGAGGCAGAGGCCTCCCTGGAGCACGAGGAGGGCAAGATCCTCCGGGCCCAGCTA
Celera SNP ID:            hCV25767444
SNP Position Transcript:  4611
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1533, (R,CGC)   (L,CTC)   



Context             (SEQ ID NO:1893):
ACCTCAAGGAGCGCTACGCGGCCTGGATGATATATACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAATGCCGA
R
GTGGTGGCCGCCTACCGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATCAGTACATGCTGACAGATCGGGAGA
Celera SNP ID:            hCV25471921
SNP Position Transcript:  424
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(A,8|G,30)   total(A,13|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 137, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,9|G,29)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 137, (E,GAA)   (E,GAG)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 137, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:1894):
TCACCAAGGGGCAGAGCGTGCAGCAGGTGTACTACTCCATCGGGGCTCTGGCCAAGGCAGTGTATGAGAAGATGTTCAACTGGATGGTGACGCGCATCAA
Y
GCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTGGACATCGCTGGCTTCGAGATCTTCGACTTCAACAGCTTTGAGCAGCTCTGCA
Celera SNP ID:            hCV25767463
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,34|T,2)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 445, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:1895):
ATCCTCCGGGCCCAGCTAGAGTTCAACCAGATCAAGGCAGAGATCGAGCGGAAGCTGGCAGAGAAGGACGAGGAGATGGAACAGGCCAAGCGCAACCACC
W
GCGGGTGGTGGACTCGCTGCAGACCTCCCTGGATGCAGAGACACGCAGCCGCAACGAGGTCCTGAGGGTGAAGAAGAAGATGGAAGGAGACCTCAATGAG
Celera SNP ID:            hCV25473355
SNP Position Transcript:  4794
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,40)   total(A,75|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1594, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:1896):
CGCGGCCTGGATGATATATACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAATGCCGAGGTGGTGGCCGCCTAC
M
GGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATCAGTACATGCTGACAGATCGGGAGAACCAGTCCATCCTCAT
Celera SNP ID:            hCV25471922
SNP Position Transcript:  440
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,4|C,34)   total(A,4|C,72)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 143, (R,AGG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,4|C,36)   total(A,4|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 143, (R,AGG)   (R,CGG)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 143, (R,AGG)   (R,CGG)      



Context             (SEQ ID NO:1897):
CTCGCTCCCTCAGCACAGAGCTCTTCAAGCTCAAGAACGCCTACGAGGAGTCCCTGGAGCACCTAGAGACCTTCAAGCGGGAGAACAAGAACCTTCAGGA
R
GAAATCTCGGACCTTACTGAGCAGCTAGGAGAAGGAGGAAAGAATGTGCATGAGCTGGAGAAGGTCCGCAAACAGCTGGAGGTGGAGAAGCTGGAGCTGC
Celera SNP ID:            hCV25767464
SNP Position Transcript:  4543
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1510, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:1898):
CCCAGAACACCAGCCTCATCAACCAGAAGAAGAAGATGGAGTCGGATCTGACCCAGCTCCAGTCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGC
Y
GAGGAGAAGGCCAAGAAGGCCATCACGGATGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAGCGCATGAAGAAGA
Celera SNP ID:            hCV29359089
SNP Position Transcript:  5275
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1754, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:1899):
AGCTGGCGGAGCAGGAGCTGATTGAGACCAGCGAGCGGGTGCAGCTGCTGCATTCCCAGAACACCAGCCTCATCAACCAGAAGAAGAAGATGGAGTCGGA
Y
CTGACCCAGCTCCAGTCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGCCGAGGAGAAGGCCAAGAAGGCCATCACGGATGCCGCCATGATGGCAG
Celera SNP ID:            hCV27468809
SNP Position Transcript:  5221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1736, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1900):
GCGTCTAGAGGCCCAGACCCGGCCCTTTGACATTCGCACTGAGTGCTTCGTGCCCGATGACAAGGAAGAGTTTGTCAAAGCCAAGATTTTGTCCCGGGAG
R
GAGGCAAGGTCATTGCTGAAACCGAGAATGGGAAGACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATTGAGGA
Celera SNP ID:            hCV2478335
SNP Position Transcript:  179
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,9)   total(G,9|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 56, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:1901):
CAAAAACAAGATTCAGCTGGAGGCCAAAGTAAAGGAGATGAATGAGAGGCTGGAGGATGAGGAGGAGATGAACGCGGAGCTCACTGCCAAGAAGCGCAAG
Y
TGGAAGACGAGTGCTCAGAGCTCAAGAAGGACATTGATGACCTGGAGCTGACACTGGCCAAGGTGGAGAAGGAGAAGCATGCAACAGAGAACAAGGTGAA
Celera SNP ID:            hCV27129022
SNP Position Transcript:  2846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 945, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:1902):
CCGTGGAGGCTGTTAATGCCAAGTGCTCCTCACTGGAGAAGACCAAGCACCGGCTACAGAATGAGATAGAGGACTTGATGGTGGACGTAGAGCGCTCCAA
Y
GCTGCTGCTGCAGCCCTGGACAAGAAGCAGAGAAACTTTGACAAGATCCTGGCCGAGTGGAAGCAGAAGTATGAGGAGTCGCAGTCTGAGCTGGAGTCCT
Celera SNP ID:            hCV27129024
SNP Position Transcript:  4330
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1439, (N,AAC)   (N,AAT)      1439, (N,AAT)   (N,AAC)      



Context             (SEQ ID NO:1903):
CCGCGTGAAGCTAGAAGAGGCCCAACGCTCCCTCAATGATTTCACCACCCAGCGAGCCAAGCTGCAGACCGAGAATGGAGAGTTGGCCCGGCAGCTAGAG
S
AAAAGGAGGCGCTAATCTCGCAGCTGACCCGGGGGAAGCTCTCTTATACCCAGCAAATGGAGGACCTCAAAAGGCAGCTGGAGGAGGAGGGCAAGGCGAA
Celera SNP ID:            hCV25637900
SNP Position Transcript:  3899
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1296, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:1904):
CAGAGACACGCAGCCGCAACGAGGTCCTGAGGGTGAAGAAGAAGATGGAAGGAGACCTCAATGAGATGGAGATCCAGCTCAGCCACGCCAACCGCATGGC
Y
GCCGAGGCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGCTGAAGGACACCCAGATCCAGCTGGACGATGCGGTCCGTGCCAACGACGACCTGAAGGAGA
Celera SNP ID:            hCV2478362
SNP Position Transcript:  4930
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,8)   caucasian(C,15|T,23)   total(C,41|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1639, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,6)      total(C,6|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1639, (A,GCC)   (A,GCT)      1639, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:1905):
TGGAGGCTGTTAATGCCAAGTGCTCCTCACTGGAGAAGACCAAGCACCGGCTACAGAATGAGATAGAGGACTTGATGGTGGACGTAGAGCGCTCCAATGC
Y
GCTGCTGCAGCCCTGGACAAGAAGCAGAGAAACTTTGACAAGATCCTGGCCGAGTGGAAGCAGAAGTATGAGGAGTCGCAGTCTGAGCTGGAGTCCTCAC
Celera SNP ID:            hCV27129025
SNP Position Transcript:  4333
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1440, (A,GCC)   (A,GCT)      1440, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:1906):
AGCCCGCGGTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATATACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCT
R
CCGGTGTACAATGCCGAGGTGGTGGCCGCCTACCGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATCAGTACA
Celera SNP ID:            hCV2478339
SNP Position Transcript:  406
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,4|G,36)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 131, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,3|G,33)   total(A,5|G,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 131, (L,CTA)   (L,CTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 131, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:1907):
ATCATGGACCTGGAAAATGATAAACTGCAGCTGGAAGAAAAGCTTAAGAAGAAGGAGTTTGACATTAATCAGCAGAACAGTAAGATTGAGGATGAGCAGG
Y
GCTGGCCCTTCAACTACAGAAGAAACTGAAGGAAAACCAGGCACGCATCGAGGAGCTGGAGGAGGAGCTGGAGGCCGAGCGCACCGCCAGGGCTAAGGTG
Celera SNP ID:            hCV2478356
SNP Position Transcript:  3315
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,5)      total(C,5|T,4) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1101, (A,GCG)   (V,GTG)      1101, (V,GTG)   (A,GCG)      



Context             (SEQ ID NO:1908):
CTCTCTGGACATTGATCACAACCAGTACAAGTTTGGCCACACCAAGGTGTTCTTCAAGGCAGGGCTGCTTGGGCTGCTGGAGGAGATGCGGGATGAGAGG
M
TGAGCCGCATCATCACGCGCATGCAGGCCCAAGCCCGGGGCCAGCTCATGCGCATTGAGTTCAAGAAGATAGTGGAACGCAGGGATGCCCTGCTGGTAAT
Celera SNP ID:            hCV2478349
SNP Position Transcript:  2360
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,12)   total(A,1|C,12) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 783, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:1909):
TGAGGATGAGCAGGTGCTGGCCCTTCAACTACAGAAGAAACTGAAGGAAAACCAGGCACGCATCGAGGAGCTGGAGGAGGAGCTGGAGGCCGAGCGCACC
R
CCAGGGCTAAGGTGGAGAAGCTGCGCTCAGACCTGTCTCGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCCGTGCAGAT
Celera SNP ID:            hCV2478358
SNP Position Transcript:  3401
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,4|G,36)   total(A,4|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1130, (T,ACC)   (A,GCC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1130, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:1910):
GGAAGCTGGCGGAGCAGGAGCTGATTGAGACCAGCGAGCGGGTGCAGCTGCTGCATTCCCAGAACACCAGCCTCATCAACCAGAAGAAGAAGATGGAGTC
K
GATCTGACCCAGCTCCAGTCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGCCGAGGAGAAGGCCAAGAAGGCCATCACGGATGCCGCCATGATGG
Celera SNP ID:            hCV8922950
SNP Position Transcript:  5218
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1735, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:1911):
CACACCAAGGTGTTCTTCAAGGCAGGGCTGCTTGGGCTGCTGGAGGAGATGCGGGATGAGAGGCTGAGCCGCATCATCACGCGCATGCAGGCCCAAGCCC
R
GGGCCAGCTCATGCGCATTGAGTTCAAGAAGATAGTGGAACGCAGGGATGCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCATGGGGGTCAAGAAT
Celera SNP ID:            hCV27860255
SNP Position Transcript:  2397
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 795, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:1912):
CCCTTCAACTACAGAAGAAACTGAAGGAAAACCAGGCACGCATCGAGGAGCTGGAGGAGGAGCTGGAGGCCGAGCGCACCGCCAGGGCTAAGGTGGAGAA
R
CTGCGCTCAGACCTGTCTCGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCCGTGCAGATCGAGATGAACAAGAAGCGCG
Celera SNP ID:            hCV25637909
SNP Position Transcript:  3421
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,40)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1136, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:1913):
GGAGGGAGGCAAGGTCATTGCTGAAACCGAGAATGGGAAGACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATT
S
AGGACATGGCCATGCTGACCTTCCTGCACGAGCCCGCGGTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATATACCTACTCGGGCCTCTT
Celera SNP ID:            hCV2227963
SNP Position Transcript:  275
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 88, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:1914):
CCCGGGGGAAGCTCTCTTATACCCAGCAAATGGAGGACCTCAAAAGGCAGCTGGAGGAGGAGGGCAAGGCGAAGAACGCCCTGGCCCATGCACTGCAGTC
R
GCCCGGCATGACTGCGACCTGCTGCGGGAGCAGTACGAGGAGGAGACAGAGGCCAAGGCCGAGCTGCAGCGCGTCCTGTCCAAGGCCAACTCGGAGGTGG
Celera SNP ID:            hCV11436384
SNP Position Transcript:  4027
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1338, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:1915):
ACTCAGCTGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAACGAGTATGTCACCAAGGGGCAGAGCGTGCAGCAGGTGTACTACTCCAT
Y
GGGGCTCTGGCCAAGGCAGTGTATGAGAAGATGTTCAACTGGATGGTGACGCGCATCAACGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAG
Celera SNP ID:            hCV25637929
SNP Position Transcript:  1288
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|T,1)   total(C,75|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 425, (I,ATC)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,17|T,1)   total(C,53|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 425, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:1916):
CAGAGGAGAAAGCTGGCGTCTACAAGCTGACGGGAGCCATCATGCACTACGGGAACATGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGCCAGA
S
GGCACCGAAGATGCTGACAAGTCGGCCTACCTCATGGGGCTGAACTCAGCTGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAACGAGT
Celera SNP ID:            hCV25637937
SNP Position Transcript:  1144
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,26)   total(C,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 377, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:1917):
CTACAGGACCTGGTGGACAAGCTGCAACTGAAGGTCAAGGCCTACAAGCGCCAGGCCGAGGAGGCGGAGGAGCAAGCCAACACCAACCTGTCCAAGTTCC
R
CAAGGTGCAGCATGAGCTGGATGAGGCAGAGGAGCGGGCGGACATCGCTGAGTCCCAGGTCAACAAGCTTCGAGCCAAGAGCCGTGACATTGGTGCCAAG
Celera SNP ID:            hCV25767424
SNP Position Transcript:  5712
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1900, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:1918):
TCCGGAACGACAACTCCTCCCGCTTTGGGAAATTCATTAGGATCCACTTTGGGGCCACTGGAAAGCTGGCTTCTGCAGACATAGAGACCTACCTGCTGGA
R
AAGTCCCGGGTGATCTTCCAGCTGAAAGCTGAGAGAAACTACCACATCTTCTACCAGATTCTGTCCAACAAGAAGCCGGAGTTGCTGGACATGCTGCTGG
Celera SNP ID:            hCV2227967
SNP Position Transcript:  823
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 270, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:1919):
ACTTCAGAGGAGAAAGCTGGCGTCTACAAGCTGACGGGAGCCATCATGCACTACGGGAACATGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGC
M
AGACGGCACCGAAGATGCTGACAAGTCGGCCTACCTCATGGGGCTGAACTCAGCTGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAAC
Celera SNP ID:            hCV16026185
SNP Position Transcript:  1140
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 376, (Q,CAA)   (P,CCA)      



Context             (SEQ ID NO:1920):
TGGAGATCCAGCTCAGCCACGCCAACCGCATGGCTGCCGAGGCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGCTGAAGGACACCCAGATCCAGCTGGA
Y
GATGCGGTCCGTGCCAACGACGACCTGAAGGAGAACATCGCCATCGTGGAGCGGCGCAACAACCTGCTGCAGGCTGAGCTGGAGGAGCTGCGTGCCGTGG
Celera SNP ID:            hCV2227984
SNP Position Transcript:  4996
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,30|T,4)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1661, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1661, (D,GAT)   (D,GAC)      1661, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:1921):
GAGAAGGACGAGGAGATGGAACAGGCCAAGCGCAACCACCAGCGGGTGGTGGACTCGCTGCAGACCTCCCTGGATGCAGAGACACGCAGCCGCAACGAGG
Y
CCTGAGGGTGAAGAAGAAGATGGAAGGAGACCTCAATGAGATGGAGATCCAGCTCAGCCACGCCAACCGCATGGCTGCCGAGGCCCAGAAGCAAGTCAAG
Celera SNP ID:            hCV25637955
SNP Position Transcript:  4854
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1614, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:1922):
AGACCTCCCTGGATGCAGAGACACGCAGCCGCAACGAGGTCCTGAGGGTGAAGAAGAAGATGGAAGGAGACCTCAATGAGATGGAGATCCAGCTCAGCCA
Y
GCCAACCGCATGGCTGCCGAGGCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGCTGAAGGACACCCAGATCCAGCTGGACGATGCGGTCCGTGCCAACG
Celera SNP ID:            hCV25637948
SNP Position Transcript:  4915
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 1634, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:1923):
CTTCAGAGGAGAAAGCTGGCGTCTACAAGCTGACGGGAGCCATCATGCACTACGGGAACATGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGCC
M
GACGGCACCGAAGATGCTGACAAGTCGGCCTACCTCATGGGGCTGAACTCAGCTGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAACG
Celera SNP ID:            hCV16026454
SNP Position Transcript:  1141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:725, 376, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:1924):
GGCGGAGCAGGAGCTGATTGAGACCAGCGAGCGGGTGCAGCTGCTGCATTCCCAGAACACCAGCCTCATCAACCAGAAGAAGAAGATGGAGTCGGATCTG
W
CCCAGCTCCAGTCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGCCGAGGAGAAGGCCAAGAAGGCCATCACGGATGCCGCCATGATGGCAGAGGA
Celera SNP ID:            hCV11436379
SNP Position Transcript:  5225
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:725, 1738, (T,ACC)   (S,TCC)      



Gene Number:                 12
Celera Gene:                 hCG1640554 - 84000314236630
Celera Transcript:           hCT2310397 - 84000314236645
Public Transcript Accession: NM_012296
Celera Protein:              hCP1902315 - 197000069465579
Public Protein Accession:    NP_036428
Gene Symbol:                 GAB2
Protein Name:                GRB2-associated binding protein 2;KIAA0571
Celera Genomic Axis:         GA_x5YUV32VYAU(23582502..23785404)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:29):
GGCCTCCCGCGAGCTGCGCACCGCCGGCCGCTGCCCCAGCTGCCCGAGCCCGCGCCCTCGTCCGCRCGACCCGGCGGGGGGCTCCAGGCCGGCAGCATGA
GCGGCGGCGGCGACGTGGTGTGCACCGGCTGGCTGAGGAAATCGCCTCCCGAGAAGAAGTTGAGGCGCTATGCCTGGAAGAAACGCTGGTTTATCCTGCG
GAGTGGCCGGATGAGCGGTGACCCAGATGTTCTGGAATACTACAAGAACGATCACTCCAAGAAGCCTCTGCGGATCATCAACCTGAACTTCTGTGAGCAG
GTAGATGCAGGCCTGACCTTTRACAAGAAGGAGCTGCAGGATAGTTTTGTGTTTGACATCAAGACCAGTGAACGCACCTTTTACCTGGTGGCTGAGACAG
AAGAGGACATGAATAAGTGGGTCCAGAGCATCTGCCAGATCTGTGGCTTCAATCAGGCTGAGGAGAGCACAGACTCCCTGAGAAATGTTTCCTCAGCCGG
TCATGGCCCCCGCTCTTCTCCAGCYGAGCTCAGCAGCTCTAGCCAGCACCTTCTCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACT
CTGTTCACGTTTGAACCCCCTGTGTCAAACCACATGCAGCCCACCTTGTCCACYAGCGCACCTCAGGAGTATCTCTACTTGCACCAGTGCATAAGCCGAA
GAGCAGAAAATGCAAGGAGTGCCAGCTTCTCTCAGGGCACCAGAGCCTCTTTTCTCATGAGGAGTGACACAGCTGTACAAAAACTTGCCCAGGGCAATGG
ACACTGTGTCAACGGGATCAGTGGTCAAGTCCATGGCTTCTATAGCCTTCCCAAGCCGAGCCGGCACAATACAGAATTCAGAGACAGTACCTACGACCTC
CCCCGCAGCCTGGCCTCCCATGGCCACACCAAGGGCAGCCTCACAGGCTCCGAGACAGATAATGAGGATGTGTACACCTTCAAGACGCCCAGCAACACCC
TGTGCAGGGAGTTYGGGGACCTCCTGGTAGACAATATGGATGTTCCGGCCACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAA
CCACAATGCCATGACAGTGGCCACTCYTGGGGACTCAGCCATAGCTCCCCCACCCCGCCCCCCCAAGCCAAGTCAGGCAGAAACACCTCGATGGGGCAGT
CCTCAGCAGAGACCGCCAATCAGTGAAAATAGCAGATCTGTCGCTGCCACCATCCCCAGACGCAACACCCTCCCTGCAATGGACAACAGCCGACTTCACC
GAGCTTCTTCCTGTGAGACCTACGAGTACCCACAGCGTGGTGGAGAGAGTGCAGGCCGGTCTGCTGAATCCATGAGTGATGGAGTYGGCTCTTTCCTGCC
AGGGAAAATGATTGTGGGCCGATCGGACAGCACCAATTCTGAAGACAACTATGTGCCCATGAATCCAGGTTCTTCCACCCTGTTGGCCATGGAACGAGCA
GGTGATAATTCCCAGAGCGTCTACATCCCAATGAGCCCAGGGGCCCATCACTTTGACTCACTTGGCTACCCATCAACAACCCTTCCTGTGCACCGAGGCC
CCAGCAGAGGAAGTGAGATTCAGCCACCCCCTGTCAACCGCAACCTCAAACCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGT
CATCGATGAACTCCCCTTYAAGTCACCTATCACCAAGTCTTGGKCTAGGGCCAACCACACCTTCAACTCCAGCTCCTCMCAGTACTGCCGCCCCATCTCC
ACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCCMTATGCAAAACCCAGTGTSTGCATCTCCCGTTCCCAGTGGCACGAACA
GTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGACTTCCAGCCGAGCTCCCCAAGCCCCCACCGCAAGCCATCTACTTCATCCGT
CACCTCTGATGAGAAGGTGGACTACGTTCAGGTGGACAAGGAGAAGACCCAGGCCCTGCAGAACACCATGCAGGAGTGGACAGACGTGCGGCAGTCCTCR
GAGCCTTCCAAGGGTGCCAAGCTGTGATGAGAGGGCCACCGCAGAGCCCAGGAGGCAGCATCTCCAGAGCTGGCCCTTCCCATCTCCCCTCTCCCCTCTC
CCGTTCTTCCTCCCATCCACCTCCTCTCTACTCTGCCAGTCTCAGCCTTCAAAGCACTTGACATCAGGGACCCTGAACCCTTCCCCTGGGAGGTGAGGGC
CTGATCRAGGCACCTCCTCTGCCCACTCGGGGCCCAGCTGTGATTTTTATCAGTAATGGCCATGCCTCCACCCACCTTAGTTAGGAGCTACTTCCAAAAA
GCATCCTTCAGCCTCTTCCTGTCCTTTAGACCTGACTCTCTACCAGATGTTTGGAGGGAAGGGCTGGGGCTCTGAGCCAGATTCCACACCTCACGTTCAG
TCACAGCCCTCAGCTATCTTCCCTCCGGCCACTGGGCTACCTCTCCTTCAGTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACC
ARAGTGGATAATGGACTTTTTCAYTCCTGTTTTTCTTGGCAGGAGAGAAGCAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCT
TGAGGGGTAAAGGACTTAGATGCCCAGATGAAGAGGGAAAGCTGACATCTGCAGGGAACCCACTTTGAGGCTGAGGCCATGGCAGGACAGCTGCTGTGGG
GTGCAGAGGCAGAAGATGAAGGACAAAAGGAAGGGAAAACTGATGGCCAACCTAGAGCAGCAAGGAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAA
GGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCTAKGCCCAAGGGCTAKTCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAG
CCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGACCAAGCACATGGGGCAGGAACACATGGTAAAGGGGTGGGGAATATGGGAG
GGAGTGTGGTGTGGATGGGGGTGATGCAGGGACTGAGGGGAACCCTGGGACAGGCACAGGCTGGGCAGAGGCACAGGGCAGTGCAGGGGACTCTGCAGTG
GGGTCGGGAAGTGAGTTTCTTTGCAGTGAGCAGTGCAGTGGAAGTCGGGCACAGAGGTAGCAGACAGATGTGAAGCAGTGGTGAAGGCCATGTAGCAAST
GGGGAAATACATCCAAAGGGCCTGGGAGTTGGGGGGTGCCCAACGCAATCCTTGGGGGTGCAGGGTGGAGCAGAAAGTGAAGGAGGGACACGTGCAAGAG
TGGTGTGCATGGTGGTGTGACATGAGGACCGTTCCTAGGATGGGACAGTGGGTCAGGCAGGACAAGGAGAAAGCAGGGCAGAATGATGCCTAGAGGACCA
CATCAGGCATGGCTGACAGCTTGTGCCCATGGGCTGTGGCGTATGTCAGATCGCAGGGTAGGAACGAGTCTGGCCTGGTGCCGGCCCAGTGTTTCCTCAG
CTCATCCGCCCTCTGTTGCTCCCTAGCATTCCAGGAGCCATCTTGGACTCTCCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGG
CATCACCCAAGGTTCCTTCTCTTAAAMTAAGGGTGGGGGATCTGAATGTTTWTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAG
GACAGMCCAGRCGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCT
CTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGMCCAATGGCCTAGCCATTCTCTAAGTCCCATCSTGGAAGAAGTTATTTCTTC
AAGAGSTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTATTTATTAATGGCTGCTGTCTCCAGTTTCTGGGGTTAAGCACTAAGGACAC
AAGAATCAATCAGACCTTCTCCCTGAACTTAAGATAGCCACAATCAGAAAAAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACASAGACTTCAA
ATGCTGATGGAGGGCASAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCASGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGG
TAGGCCTTAGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGGCTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGT
CTTGGGAAMAAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTGYAGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAG
CTACACTGGGCAGAGTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGAATGTGTGCCTTAAAGGCCCCCTACAAGGGGCCCCATACGACAGAGCTTTT
AACTGGTGCCTTCCSTGTACCCGCAGCAGCCACAAGTGGGCCCAGACTATTGCAGCCTCCCATAAACATGTGAGCATGTTCTGAGTGTGCCATGATGTGA
GTGGACCTGGCTGGAATCTTCGGAGAGCGACTGAGGTGTTCAAATCGAATCTCCCAGGAGGCTTCCTTCCAGCCCCCTATTCTGGTAACTACCAGGAGGC
TTCCTTCCAGCCCCCTATTSTGGTAACTACCAAAATCCCTCGGGTGCAAGTGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGC
AAAGCTSTGGCTCACAGGCCCCAAACTACCAGCCGTATCTAGCATATCCCCACCCTCCACCCACTACCTCCTCCAACAAAGGAGTCAACTCAGTTGAAAA
AACTGGTCCTTTGGCCTATCCATGGGTCAAAGTCCACCTCTCCTGGGGGCCTGGAGAGGACTGAGCCTACGGAAAGGGGATACCTTCCCACTCAGCACTG
CTTCACACAGGCCCCCTGCCTGGGGCTCTCCAAGGAGCCTTCTTCACCCACTTCCAGCTCCACTTCTGCAAGGTTAAGTCAAGTGAGAACGATGAGAAAT
AGGGAGATGGTGTCTCCTTAAGTCCTTGATCTGCCTGTCTGTGGAATGGGAGGTTGGATTAGCTGCGCTGAGGTCCCATCCACAGCTGGTGCTCAGCTGC
TTGAAGGGGAGACTCCCTCCTCTGTAACTTCTTTCTGGGGGATYGGGGTGGGCAGTACCTATCCCCAGTCCCCTCCTAGCTTGACTTTAGTGGTTTCCAA
TGTAGAAGTTAACAAAGTATGCCCCATTCCTGTGACAAAAGCACAACCATTCTGAAGTTACTGGAGCATGGGCTCAGCTCATCCTCCCTCTGGCCCCTTC
TCCCATGGGGACATCTCGGCCCAGCACCCCTATCCCATTTCCAGAGTTCTTCCTTCCCCATCTGGGCCTTCATAAAATGCAGGGGAAGCCAGACTGGTCT
CAGGAGCGCTAAAGCCCTTCCGTGGGGGGTCGTCTTTCTGGGACTAGCCCTGCTGTTTAGGACCTGGGACCACAAYGGGGTACCTGCCGAGGGGGTCCCC
AAGAGATCCAGGCTGTCATGTGATTTATGGTGGCATGTGTTGTGTATTTGTTGGCTACTTGTGTCTTGAAATCTAGAATTATTTCACGCAGAATTGTCAC
TGTTTGTCAGGAAGAGAAAATGGGCTAGTGGAAGCCCAGTCTTGAGTTCTTGTCTTGTTACCATTTAAAATTGACATTTAATTTTCAAATCACTGTTGGT
GCCTAATCACTTAAGTTATTAATTTATTCTGWTGTATTCTTTTTTTTAAATTGTAACATATTTATCCGGTGGGTGGGACAGGAGTGTGTTCAAGTGGGTC
ATGTTTTTGCTGTGGTGACACATGGTACAGGCTTGGAGCTTGCAGGTCCCTTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAARTGCACC
CCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGRGCTTGGTGGTGGAACCYGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATT
GGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCTCTCTACCTCAGCGTCTGTTGTAAAGTGGAAATCATACTAGCATTTACCCATCCAGCTTTCTTAG
GCGTCTAGAGATGGGTTCTGGGCGTGTCTGTCTGCTGCTTTCACAGGTCACTTAGATGTGACATCTTGAGGGTCTGTGACATTGGGCCCAAACTCCACAC
CACCATCACAGCAGGCAGCCCCTGGGGAAGGAGGTAGGTAAAGGCTTGAGAGCTGCCTCCCAGGTGCATCCTCTCCACGGGCAGCATCACCCAGCCCTCA
GT

Protein Sequence    (SEQ ID NO:726):
MSGGGDVVCTGWLRKSPPEKKLRRYAWKKRWFILRSGRMSGDPDVLEYYKNDHSKKPLRIINLNFCEQVDAGLTFNKKELQDSFVFDIKTSERTFYLVAE
TEEDMNKWVQSICQICGFNQAEESTDSLRNVSSAGHGPRSSPAELSSSSQHLLRERKSSAPSHSSQPTLFTFEPPVSNHMQPTLSTSAPQEYLYLHQCIS
RRAENARSASFSQGTRASFLMRSDTAVQKLAQGNGHCVNGISGQVHGFYSLPKPSRHNTEFRDSTYDLPRSLASHGHTKGSLTGSETDNEDVYTFKTPSN
TLCREFGDLLVDNMDVPATPLSAYQIPRTFTLDKNHNAMTVATPGDSAIAPPPRPPKPSQAETPRWGSPQQRPPISENSRSVAATIPRRNTLPAMDNSRL
HRASSCETYEYPQRGGESAGRSAESMSDGVGSFLPGKMIVGRSDSTNSEDNYVPMNPGSSTLLAMERAGDNSQSVYIPMSPGAHHFDSLGYPSTTLPVHR
GPSRGSEIQPPPVNRNLKPDRKAKPTPLDLRNNTVIDELPFKSPITKSWSRANHTFNSSSSQYCRPISTQSITSTDSGDSEENYVPMQNPVSASPVPSGT
NSPAPKKSTGSVDYLALDFQPSSPSPHRKPSTSSVTSDEKVDYVQVDKEKTQALQNTMQEWTDVRQSSEPSKGAKL


SNP Information

Context             (SEQ ID NO:1925):
TCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAAATGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGGGCTTGGTGGTGGAACC
Y
GTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATTGGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCTCTCTACCTCAGCGTCTG
Celera SNP ID:            hCV26530775
SNP Position Transcript:  6153
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1926):
GTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGAATGTGTGCCTTAAAGGCCCCCTACAAGGGGCCCCATACGACAGAGCTTTTAACTGGTGCCTTCC
S
TGTACCCGCAGCAGCCACAAGTGGGCCCAGACTATTGCAGCCTCCCATAAACATGTGAGCATGTTCTGAGTGTGCCATGATGTGAGTGGACCTGGCTGGA
Celera SNP ID:            hCV26530792
SNP Position Transcript:  4615
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1927):
GCTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGTCTTGGGAACAAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTG
Y
AGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAGCTACACTGGGCAGAGTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGA
Celera SNP ID:            hCV26530793
SNP Position Transcript:  4450
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,476|C,1001)   total(C,1001|T,476)no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1928):
AGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCCCTATGCAAAACCCAGTGT
S
TGCATCTCCCGTTCCCAGTGGCACGAACAGTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGACTTCCAGCCGAGCTCCCCAAGC
Celera SNP ID:            hCV966447
SNP Position Transcript:  1871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:726, 592, (S,TCT)   (C,TGT)      



Context             (SEQ ID NO:1929):
AGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGGCTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGTCTTGGGAA
M
AAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTGCAGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAGCTACACTGG
Celera SNP ID:            hCV26530794
SNP Position Transcript:  4409
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|C,9)      total(A,6|C,9) ;JBIC-allele(A,343|C,1146)   total(A,343|C,1146)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1930):
AAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACAGAGACTTCAAATGCTGATGGAGGGCAGAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCA
S
GAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGGTAGGCCTTAGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGGC
Celera SNP ID:            hCV26530795
SNP Position Transcript:  4251
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1931):
TGGGGTCGGGAAGTGAGTTTCTTTGCAGTGAGCAGTGCAGTGGAAGTCGGGCACAGAGGTAGCAGACAGATGTGAAGCAGTGGTGAAGGCCATGTAGCAA
S
TGGGGAAATACATCCAAAGGGCCTGGGAGTTGGGGGGTGCCCAACGCAATCCTTGGGGGTGCAGGGTGGAGCAGAAAGTGAAGGAGGGACACGTGCAAGA
Celera SNP ID:            hCV966448
SNP Position Transcript:  3299
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1932):
GTAGACAATATGGATGTTCCGGCCACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGACAGTGGCCACTC
Y
TGGGGACTCAGCCATAGCTCCCCCACCCCGCCCCCCCAAGCCAAGTCAGGCAGAAACACCTCGATGGGGCAGTCCTCAGCAGAGACCGCCAATCAGTGAA
Celera SNP ID:            hCV26530869
SNP Position Transcript:  1127
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:726, 344, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:1933):
AAGCCCAGTCTTGAGTTCTTGTCTTGTTACCATTTAAAATTGACATTTAATTTTCAAATCACTGTTGGTGCCTAATCACTTAAGTTATTAATTTATTCTG
W
TGTATTCTTTTTTTTAAATTGTAACATATTTATCCGGTGGGTGGGACAGGAGTGTGTTCAAGTGGGTCATGTTTTTGCTGTGGTGACACATGGTACAGGC
Celera SNP ID:            hCV966449
SNP Position Transcript:  5932
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1934):
TTCTCCCTGAACTTAAGATAGCCACAATCAGAAAAAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACAGAGACTTCAAATGCTGATGGAGGGCA
S
AGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCAGGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGGTAGGCCTTAGAAGGGGA
Celera SNP ID:            hCV26530796
SNP Position Transcript:  4217
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1935):
CTAAGGACACAAGAATCAATCAGACCTTCTCCCTGAACTTAAGATAGCCACAATCAGAAAAAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACA
S
AGACTTCAAATGCTGATGGAGGGCAGAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCAGGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAG
Celera SNP ID:            hCV26530797
SNP Position Transcript:  4191
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1936):
CCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGACCAATGGCCTAGCCATTCTCTAAGTCCCATCCTGGAAGAAGTTATTTCTTCAAGAG
S
TGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTATTTATTAATGGCTGCTGTCTCCAGTTTCTGGGGTTAAGCACTAAGGACACAAGAAT
Celera SNP ID:            hCV26530798
SNP Position Transcript:  4006
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1937):
GGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAG
R
CGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCCCCATT
Celera SNP ID:            hCV26530799
SNP Position Transcript:  3811
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1938):
GGCCTCCCGCGAGCTGCGCACCGCCGGCCGCTGCCCCAGCTGCCCGAGCCCGCGCCCTCGTCCGC
R
CGACCCGGCGGGGGGCTCCAGGCCGGCAGCATGAGCGGCGGCGGCGACGTGGTGTGCACCGGCTGGCTGAGGAAATCGCCTCCCGAGAAGAAGTTGAGGC
Celera SNP ID:            hCV8749663
SNP Position Transcript:  66
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1939):
AGAGCATCTGCCAGATCTGTGGCTTCAATCAGGCTGAGGAGAGCACAGACTCCCTGAGAAATGTTTCCTCAGCCGGTCATGGCCCCCGCTCTTCTCCAGC
Y
GAGCTCAGCAGCTCTAGCCAGCACCTTCTCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGT
Celera SNP ID:            hCV25771527
SNP Position Transcript:  525
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(T,40)   total(C,7|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 143, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:1940):
AATGCAGGGGAAGCCAGACTGGTCTCAGGAGCGCTAAAGCCCTTCCGTGGGGGGTCGTCTTTCTGGGACTAGCCCTGCTGTTTAGGACCTGGGACCACAA
Y
GGGGTACCTGCCGAGGGGGTCCCCAAGAGATCCAGGCTGTCATGTGATTTATGGTGGCATGTGTTGTGTATTTGTTGGCTACTTGTGTCTTGAAATCTAG
Celera SNP ID:            hCV8747886
SNP Position Transcript:  5676
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1941):
GTGGGTCATGTTTTTGCTGTGGTGACACATGGTACAGGCTTGGAGCTTGCAGGTCCCTTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAA
R
TGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGGGCTTGGTGGTGGAACCCGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAA
Celera SNP ID:            hCV8747887
SNP Position Transcript:  6094
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1942):
TCACCTCTGATGAGAAGGTGGACTACGTTCAGGTGGACAAGGAGAAGACCCAGGCCCTGCAGAACACCATGCAGGAGTGGACAGACGTGCGGCAGTCCTC
R
GAGCCTTCCAAGGGTGCCAAGCTGTGATGAGAGGGCCACCGCAGAGCCCAGGAGGCAGCATCTCCAGAGCTGGCCCTTCCCATCTCCCCTCTCCCCTCTC
Celera SNP ID:            hCV26530811
SNP Position Transcript:  2100
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 668, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:1943):
TCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAG
M
CCAATGGCCTAGCCATTCTCTAAGTCCCATCCTGGAAGAAGTTATTTCTTCAAGAGCTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGT
Celera SNP ID:            hCV2324228
SNP Position Transcript:  3949
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1944):
GGGACAGCTACCACTGTCCTCTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGACCAATGGCCTAGCCATTCTCTAAGTCCCATC
S
TGGAAGAAGTTATTTCTTCAAGAGCTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTATTTATTAATGGCTGCTGTCTCCAGTTTCTGG
Celera SNP ID:            hCV2324229
SNP Position Transcript:  3981
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1945):
CCCAGATGTTCTGGAATACTACAAGAACGATCACTCCAAGAAGCCTCTGCGGATCATCAACCTGAACTTCTGTGAGCAGGTAGATGCAGGCCTGACCTTT
R
ACAAGAAGGAGCTGCAGGATAGTTTTGTGTTTGACATCAAGACCAGTGAACGCACCTTTTACCTGGTGGCTGAGACAGAAGAGGACATGAATAAGTGGGT
Celera SNP ID:            hCV25743153
SNP Position Transcript:  322
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:726, 76, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:1946):
CCTCCCATGGCCACACCAAGGGCAGCCTCACAGGCTCCGAGACAGATAATGAGGATGTGTACACCTTCAAGACGCCCAGCAACACCCTGTGCAGGGAGTT
Y
GGGGACCTCCTGGTAGACAATATGGATGTTCCGGCCACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGA
Celera SNP ID:            hCV26530870
SNP Position Transcript:  1014
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,676|C,801)   total(C,801|T,676)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 306, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:1947):
GAATGGGAGGTTGGATTAGCTGCGCTGAGGTCCCATCCACAGCTGGTGCTCAGCTGCTTGAAGGGGAGACTCCCTCCTCTGTAACTTCTTTCTGGGGGAT
Y
GGGGTGGGCAGTACCTATCCCCAGTCCCCTCCTAGCTTGACTTTAGTGGTTTCCAATGTAGAAGTTAACAAAGTATGCCCCATTCCTGTGACAAAAGCAC
Celera SNP ID:            hCV26530784
SNP Position Transcript:  5344
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1948):
CCAGCCCCCTATTCTGGTAACTACCAAAATCCCTCGGGTGCAAGTGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGCAAAGCT
S
TGGCTCACAGGCCCCAAACTACCAGCCGTATCTAGCATATCCCCACCCTCCACCCACTACCTCCTCCAACAAAGGAGTCAACTCAGTTGAAAAAACTGGT
Celera SNP ID:            hCV26530788
SNP Position Transcript:  4907
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1949):
TCGGAGAGCGACTGAGGTGTTCAAATCGAATCTCCCAGGAGGCTTCCTTCCAGCCCCCTATTCTGGTAACTACCAGGAGGCTTCCTTCCAGCCCCCTATT
S
TGGTAACTACCAAAATCCCTCGGGTGCAAGTGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGCAAAGCTCTGGCTCACAGGCC
Celera SNP ID:            hCV26530789
SNP Position Transcript:  4820
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1950):
TCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGTCAAACCACATGCAGCCCACCTTGTCCAC
Y
AGCGCACCTCAGGAGTATCTCTACTTGCACCAGTGCATAAGCCGAAGAGCAGAAAATGCAAGGAGTGCCAGCTTCTCTCAGGGCACCAGAGCCTCTTTTC
Celera SNP ID:            hCV25772337
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 186, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:1951):
CCCAAGGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAG
M
CCAGACGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCC
Celera SNP ID:            hCV26530800
SNP Position Transcript:  3806
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1952):
GAGCTTGCAGGTCCCTTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAAATGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGG
R
GCTTGGTGGTGGAACCCGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATTGGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCT
Celera SNP ID:            hCV8747895
SNP Position Transcript:  6136
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1953):
CCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGGCATCACCCAAGGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTT
W
TATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAGACGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCC
Celera SNP ID:            hCV26530801
SNP Position Transcript:  3752
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1954):
CATTCCAGGAGCCATCTTGGACTCTCCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGGCATCACCCAAGGTTCCTTCTCTTAAA
M
TAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAGACGTTTCATTCTACCCT
Celera SNP ID:            hCV26530802
SNP Position Transcript:  3727
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1955):
GAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAAGGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCTAGGCCCAAGGGCTA
K
TCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAGCCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGACCAAGCACATGGGGC
Celera SNP ID:            hCV26530804
SNP Position Transcript:  2965
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1956):
CTAGAGCAGCAAGGAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAAGGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCTA
K
GCCCAAGGGCTAGTCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAGCCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGACC
Celera SNP ID:            hCV26530805
SNP Position Transcript:  2952
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1957):
TCCGGCCACTGGGCTACCTCTCCTTCAGTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACCAAAGTGGATAATGGACTTTTTCA
Y
TCCTGTTTTTCTTGGCAGGAGAGAAGCAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCTTGAGGGGTAAAGGACTTAGATGCC
Celera SNP ID:            hCV26530806
SNP Position Transcript:  2624
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1958):
AACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCC
M
TATGCAAAACCCAGTGTCTGCATCTCCCGTTCCCAGTGGCACGAACAGTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGACTTC
Celera SNP ID:            hCV26530840
SNP Position Transcript:  1853
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:726, 586, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:1959):
CACAGCCCTCAGCTATCTTCCCTCCGGCCACTGGGCTACCTCTCCTTCAGTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACCA
R
AGTGGATAATGGACTTTTTCATTCCTGTTTTTCTTGGCAGGAGAGAAGCAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCTTG
Celera SNP ID:            hCV26530807
SNP Position Transcript:  2602
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1960):
TTCAGCCACCCCCTGTCAACCGCAACCTCAAACCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTT
Y
AAGTCACCTATCACCAAGTCTTGGTCTAGGGCCAACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCA
Celera SNP ID:            hCV2324218
SNP Position Transcript:  1719
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 541, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:1961):
TTCCTCCCATCCACCTCCTCTCTACTCTGCCAGTCTCAGCCTTCAAAGCACTTGACATCAGGGACCCTGAACCCTTCCCCTGGGAGGTGAGGGCCTGATC
R
AGGCACCTCCTCTGCCCACTCGGGGCCCAGCTGTGATTTTTATCAGTAATGGCCATGCCTCCACCCACCTTAGTTAGGAGCTACTTCCAAAAAGCATCCT
Celera SNP ID:            hCV26530808
SNP Position Transcript:  2307
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:726, None   



Context             (SEQ ID NO:1962):
CCTCAAACCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTTCAAGTCACCTATCACCAAGTCTTGG
K
CTAGGGCCAACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAA
Celera SNP ID:            hCV966441
SNP Position Transcript:  1744
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:726, 550, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:1963):
ACAGCCGACTTCACCGAGCTTCTTCCTGTGAGACCTACGAGTACCCACAGCGTGGTGGAGAGAGTGCAGGCCGGTCTGCTGAATCCATGAGTGATGGAGT
Y
GGCTCTTTCCTGCCAGGGAAAATGATTGTGGGCCGATCGGACAGCACCAATTCTGAAGACAACTATGTGCCCATGAATCCAGGTTCTTCCACCCTGTTGG
Celera SNP ID:            hCV26530861
SNP Position Transcript:  1386
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)   JBIG-allele(G,691|A,800)   total(G,691|A,800)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 430, (V,GTG)   (V,GTA)      430, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:1964):
TTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTTCAAGTCACCTATCACCAAGTCTTGGTCTAGGGCCAACCACACCTTCAACTCCAGCTCCTC
M
CAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCCCTATGCAAAACCCAGTGTCTGCATCTC
Celera SNP ID:            hCV966442
SNP Position Transcript:  1779
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:726, 561, (S,TCA)   (S,TCC)      



Gene Number:                 12
Celera Gene:                 hCG1640554 - 84000314236630
Celera Transcript:           hCT1640681 - 84000314236631
Public Transcript Accession: NM_012296
Celera Protein:              hCP1640416 - 197000069465578
Public Protein Accession:    NP_036428
Gene Symbol:                 GAB2
Protein Name:                GRB2-associated binding protein 2;KIAA0571
Celera Genomic Axis:         GA_x5YUV32VYAU(23582502..23709478)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:30):
GAAATTTTGAGAAGTGGTGGGATGAAGAAGATCCCTGAAGAGAGSAGTAACTGAGACAAAGGMGAGGCTAGCAATAGAGAGACAAGTGAGGGAATTAGAC
CTTTGGTATCATCATGAAAAGGCCTGGAAGAAACGCTGGTTTATCCTGCGGAGTGGCCGGATGAGCGGTGACCCAGATGTTCTGGAATACTACAAGAACG
ATCACTCCAAGAAGCCTCTGCGGATCATCAACCTGAACTTCTGTGAGCAGGTAGATGCAGGCCTGACCTTTRACAAGAAGGAGCTGCAGGATAGTTTTGT
GTTTGACATCAAGACCAGTGAACGCACCTTTTACCTGGTGGCTGAGACAGAAGAGGACATGAATAAGTGGGTCCAGAGCATCTGCCAGATCTGTGGCTTC
AATCAGGCTGAGGAGAGCACAGACTCCCTGAGAAATGTTTCCTCAGCCGGTCATGGCCCCCGCTCTTCTCCAGCYGAGCTCAGCAGCTCTAGCCAGCACC
TTCTCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGTCAAACCACATGCAGCCCACCTTGTC
CACYAGCGCACCTCAGGAGTATCTCTACTTGCACCAGTGCATAAGCCGAAGAGCAGAAAATGCAAGGAGTGCCAGCTTCTCTCAGGGCACCAGAGCCTCT
TTTCTCATGAGGAGTGACACAGCTGTACAAAAACTTGCCCAGGGCAATGGACACTGTGTCAACGGGATCAGTGGTCAAGTCCATGGCTTCTATAGCCTTC
CCAAGCCGAGCCGGCACAATACAGAATTCAGAGACAGTACCTACGACCTCCCCCGCAGCCTGGCCTCCCATGGCCACACCAAGGGCAGCCTCACAGGCTC
CGAGACAGATAATGAGGATGTGTACACCTTCAAGACGCCCAGCAACACCCTGTGCAGGGAGTTYGGGGACCTCCTGGTAGACAATATGGATGTTCCGGCC
ACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGACAGTGGCCACTCYTGGGGACTCAGCCATAGCTCCCC
CACCCCGCCCCCCCAAGCCAAGTCAGGCAGAAACACCTCGATGGGGCAGTCCTCAGCAGAGACCGCCAATCAGTGAAAATAGCAGATCTGTCGCTGCCAC
CATCCCCAGACGCAACACCCTCCCTGCAATGGACAACAGCCGACTTCACCGAGCTTCTTCCTGTGAGACCTACGAGTACCCACAGCGTGGTGGAGAGAGT
GCAGGCCGGTCTGCTGAATCCATGAGTGATGGAGTYGGCTCTTTCCTGCCAGGGAAAATGATTGTGGGCCGATCGGACAGCACCAATTCTGAAGACAACT
ATGTGCCCATGAATCCAGGTTCTTCCACCCTGTTGGCCATGGAACGAGCAGGTGATAATTCCCAGAGCGTCTACATCCCAATGAGCCCAGGGGCCCATCA
CTTTGACTCACTTGGCTACCCATCAACAACCCTTCCTGTGCACCGAGGCCCCAGCAGAGGAAGTGAGATTCAGCCACCCCCTGTCAACCGCAACCTCAAA
CCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTTYAAGTCACCTATCACCAAGTCTTGGKCTAGGG
CCAACCACACCTTCAACTCCAGCTCCTCMCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGT
CCMTATGCAAAACCCAGTGTSTGCATCTCCCGTTCCCAGTGGCACGAACAGTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGAC
TTCCAGCCGAGCTCCCCAAGCCCCCACCGCAAGCCATCTACTTCATCCGTCACCTCTGATGAGAAGGTGGACTACGTTCAGGTGGACAAGGAGAAGACCC
AGGCCCTGCAGAACACCATGCAGGAGTGGACAGACGTGCGGCAGTCCTCRGAGCCTTCCAAGGGTGCCAAGCTGTGATGAGAGGGCCACCGCAGAGCCCA
GGAGGCAGCATCTCCAGAGCTGGCCCTTCCCATCTCCCCTCTCCCCTCTCCCGTTCTTCCTCCCATCCACCTCCTCTCTACTCTGCCAGTCTCAGCCTTC
AAAGCACTTGACATCAGGGACCCTGAACCCTTCCCCTGGGAGGTGAGGGCCTGATCRAGGCACCTCCTCTGCCCACTCGGGGCCCAGCTGTGATTTTTAT
CAGTAATGGCCATGCCTCCACCCACCTTAGTTAGGAGCTACTTCCAAAAAGCATCCTTCAGCCTCTTCCTGTCCTTTAGACCTGACTCTCTACCAGATGT
TTGGAGGGAAGGGCTGGGGCTCTGAGCCAGATTCCACACCTCACGTTCAGTCACAGCCCTCAGCTATCTTCCCTCCGGCCACTGGGCTACCTCTCCTTCA
GTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACCARAGTGGATAATGGACTTTTTCAYTCCTGTTTTTCTTGGCAGGAGAGAAG
CAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCTTGAGGGGTAAAGGACTTAGATGCCCAGATGAAGAGGGAAAGCTGACATCT
GCAGGGAACCCACTTTGAGGCTGAGGCCATGGCAGGACAGCTGCTGTGGGGTGCAGAGGCAGAAGATGAAGGACAAAAGGAAGGGAAAACTGATGGCCAA
CCTAGAGCAGCAAGGAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAAGGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCT
AKGCCCAAGGGCTAKTCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAGCCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGA
CCAAGCACATGGGGCAGGAACACATGGTAAAGGGGTGGGGAATATGGGAGGGAGTGTGGTGTGGATGGGGGTGATGCAGGGACTGAGGGGAACCCTGGGA
CAGGCACAGGCTGGGCAGAGGCACAGGGCAGTGCAGGGGACTCTGCAGTGGGGTCGGGAAGTGAGTTTCTTTGCAGTGAGCAGTGCAGTGGAAGTCGGGC
ACAGAGGTAGCAGACAGATGTGAAGCAGTGGTGAAGGCCATGTAGCAASTGGGGAAATACATCCAAAGGGCCTGGGAGTTGGGGGGTGCCCAACGCAATC
CTTGGGGGTGCAGGGTGGAGCAGAAAGTGAAGGAGGGACACGTGCAAGAGTGGTGTGCATGGTGGTGTGACATGAGGACCGTTCCTAGGATGGGACAGTG
GGTCAGGCAGGACAAGGAGAAAGCAGGGCAGAATGATGCCTAGAGGACCACATCAGGCATGGCTGACAGCTTGTGCCCATGGGCTGTGGCGTATGTCAGA
TCGCAGGGTAGGAACGAGTCTGGCCTGGTGCCGGCCCAGTGTTTCCTCAGCTCATCCGCCCTCTGTTGCTCCCTAGCATTCCAGGAGCCATCTTGGACTC
TCCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGGCATCACCCAAGGTTCCTTCTCTTAAAMTAAGGGTGGGGGATCTGAATGTT
TWTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGMCCAGRCGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTC
CCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGMC
CAATGGCCTAGCCATTCTCTAAGTCCCATCSTGGAAGAAGTTATTTCTTCAAGAGSTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTA
TTTATTAATGGCTGCTGTCTCCAGTTTCTGGGGTTAAGCACTAAGGACACAAGAATCAATCAGACCTTCTCCCTGAACTTAAGATAGCCACAATCAGAAA
AAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACASAGACTTCAAATGCTGATGGAGGGCASAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCA
SGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGGTAGGCCTTAGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGG
CTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGTCTTGGGAAMAAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTGY
AGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAGCTACACTGGGCAGAGTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGA
ATGTGTGCCTTAAAGGCCCCCTACAAGGGGCCCCATACGACAGAGCTTTTAACTGGTGCCTTCCSTGTACCCGCAGCAGCCACAAGTGGGCCCAGACTAT
TGCAGCCTCCCATAAACATGTGAGCATGTTCTGAGTGTGCCATGATGTGAGTGGACCTGGCTGGAATCTTCGGAGAGCGACTGAGGTGTTCAAATCGAAT
CTCCCAGGAGGCTTCCTTCCAGCCCCCTATTCTGGTAACTACCAGGAGGCTTCCTTCCAGCCCCCTATTSTGGTAACTACCAAAATCCCTCGGGTGCAAG
TGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGCAAAGCTSTGGCTCACAGGCCCCAAACTACCAGCCGTATCTAGCATATCCC
CACCCTCCACCCACTACCTCCTCCAACAAAGGAGTCAACTCAGTTGAAAAAACTGGTCCTTTGGCCTATCCATGGGTCAAAGTCCACCTCTCCTGGGGGC
CTGGAGAGGACTGAGCCTACGGAAAGGGGATACCTTCCCACTCAGCACTGCTTCACACAGGCCCCCTGCCTGGGGCTCTCCAAGGAGCCTTCTTCACCCA
CTTCCAGCTCCACTTCTGCAAGGTTAAGTCAAGTGAGAACGATGAGAAATAGGGAGATGGTGTCTCCTTAAGTCCTTGATCTGCCTGTCTGTGGAATGGG
AGGTTGGATTAGCTGCGCTGAGGTCCCATCCACAGCTGGTGCTCAGCTGCTTGAAGGGGAGACTCCCTCCTCTGTAACTTCTTTCTGGGGGATYGGGGTG
GGCAGTACCTATCCCCAGTCCCCTCCTAGCTTGACTTTAGTGGTTTCCAATGTAGAAGTTAACAAAGTATGCCCCATTCCTGTGACAAAAGCACAACCAT
TCTGAAGTTACTGGAGCATGGGCTCAGCTCATCCTCCCTCTGGCCCCTTCTCCCATGGGGACATCTCGGCCCAGCACCCCTATCCCATTTCCAGAGTTCT
TCCTTCCCCATCTGGGCCTTCATAAAATGCAGGGGAAGCCAGACTGGTCTCAGGAGCGCTAAAGCCCTTCCGTGGGGGGTCGTCTTTCTGGGACTAGCCC
TGCTGTTTAGGACCTGGGACCACAAYGGGGTACCTGCCGAGGGGGTCCCCAAGAGATCCAGGCTGTCATGTGATTTATGGTGGCATGTGTTGTGTATTTG
TTGGCTACTTGTGTCTTGAAATCTAGAATTATTTCACGCAGAATTGTCACTGTTTGTCAGGAAGAGAAAATGGGCTAGTGGAAGCCCAGTCTTGAGTTCT
TGTCTTGTTACCATTTAAAATTGACATTTAATTTTCAAATCACTGTTGGTGCCTAATCACTTAAGTTATTAATTTATTCTGWTGTATTCTTTTTTTTAAA
TTGTAACATATTTATCCGGTGGGTGGGACAGGAGTGTGTTCAAGTGGGTCATGTTTTTGCTGTGGTGACACATGGTACAGGCTTGGAGCTTGCAGGTCCC
TTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAARTGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGRGCTTGGTGGTGGAA
CCYGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATTGGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCTCTCTACCTCAGCGT
CTGTTGTAAAGTGGAAATCATACTAGCATTTACCCATCCAGCTTTCTTAGGCGTCTAGAGATGGGTTCTGGGCGTGTCTGTCTGCTGCTTTCACAGGTCA
CTTAGATGTGACATCTTGAGGGTCTGTGACATTGGGCCCAAACTCCACACCACCATCACAGCAGGCAGCCCCTGGGGAAGGAGGTAGGTAAAGGCTTGAG
AGCTGCCTCCCAGGTGCATCCTCTCCACGGGCAGCATCACCCAGCCCTCAGT

Protein Sequence    (SEQ ID NO:727):
MSGDPDVLEYYKNDHSKKPLRIINLNFCEQVDAGLTFNKKELQDSFVFDIKTSERTFYLVAETEEDMNKWVQSICQICGFNQAEESTDSLRNVSSAGHGP
RSSPAELSSSSQHLLRERKSSAPSHSSQPTLFTFEPPVSNHMQPTLSTSAPQEYLYLHQCISRRAENARSASFSQGTRASFLMRSDTAVQKLAQGNGHCV
NGISGQVHGFYSLPKPSRHNTEFRDSTYDLPRSLASHGHTKGSLTGSETDNEDVYTFKTPSNTLCREFGDLLVDNMDVPATPLSAYQIPRTFTLDKNHNA
MTVATPGDSAIAPPPRPPKPSQAETPRWGSPQQRPPISENSRSVAATIPRRNTLPAMDNSRLHRASSCETYEYPQRGGESAGRSAESMSDGVGSFLPGKM
IVGRSDSTNSEDNYVPMNPGSSTLLAMERAGDNSQSVYIPMSPGAHHFDSLGYPSTTLPVHRGPSRGSEIQPPPVNRNLKPDRKAKPTPLDLRNNTVIDE
LPFKSPITKSWSRANHTFNSSSSQYCRPISTQSITSTDSGDSEENYVPMQNPVSASPVPSGTNSPAPKKSTGSVDYLALDFQPSSPSPHRKPSTSSVTSD
EKVDYVQVDKEKTQALQNTMQEWTDVRQSSEPSKGAKL


SNP Information

Context             (SEQ ID NO:1965):
TCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAAATGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGGGCTTGGTGGTGGAACC
Y
GTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATTGGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCTCTCTACCTCAGCGTCTG
Celera SNP ID:            hCV26530775
SNP Position Transcript:  6103
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1966):
GTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGAATGTGTGCCTTAAAGGCCCCCTACAAGGGGCCCCATACGACAGAGCTTTTAACTGGTGCCTTCC
S
TGTACCCGCAGCAGCCACAAGTGGGCCCAGACTATTGCAGCCTCCCATAAACATGTGAGCATGTTCTGAGTGTGCCATGATGTGAGTGGACCTGGCTGGA
Celera SNP ID:            hCV26530792
SNP Position Transcript:  4565
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1967):
GCTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGTCTTGGGAACAAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTG
Y
AGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAGCTACACTGGGCAGAGTTGGCAGGGTGCTGGTTCACTCTGCCCAGCCCTGA
Celera SNP ID:            hCV26530793
SNP Position Transcript:  4400
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,476|C,1001)   total(C,1001|T,476)no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1968):
AGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCCCTATGCAAAACCCAGTGT
S
TGCATCTCCCGTTCCCAGTGGCACGAACAGTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGACTTCCAGCCGAGCTCCCCAAGC
Celera SNP ID:            hCV966447
SNP Position Transcript:  1821
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:727, 554, (S,TCT)   (C,TGT)      



Context             (SEQ ID NO:1969):
AGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGGCTTGGGTCCAGTGGAGGAAGAAGGAAGGAGAGGCTTGGAAAGCCTTGTGTCTTGGGAA
M
AAAAGGCCTTTGAGCATATGGGTCCAGCCACTCAGAAGTGCAGGGGCCATGCCTTGGTGTTCCAATAAGTGAATGGAAGCAGTGGTGGTAGCTACACTGG
Celera SNP ID:            hCV26530794
SNP Position Transcript:  4359
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|C,9)      total(A,6|C,9) ;JBIC-allele(A,343|C,1146)   total(A,343|C,1146)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1970):
AAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACAGAGACTTCAAATGCTGATGGAGGGCAGAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCA
S
GAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGGTAGGCCTTAGAAGGGGATGAGTCAGATTTTTACAGAGGAGGAGGGCAGGGC
Celera SNP ID:            hCV26530795
SNP Position Transcript:  4201
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1971):
TGGGGTCGGGAAGTGAGTTTCTTTGCAGTGAGCAGTGCAGTGGAAGTCGGGCACAGAGGTAGCAGACAGATGTGAAGCAGTGGTGAAGGCCATGTAGCAA
S
TGGGGAAATACATCCAAAGGGCCTGGGAGTTGGGGGGTGCCCAACGCAATCCTTGGGGGTGCAGGGTGGAGCAGAAAGTGAAGGAGGGACACGTGCAAGA
Celera SNP ID:            hCV966448
SNP Position Transcript:  3249
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1972):
GTAGACAATATGGATGTTCCGGCCACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGACAGTGGCCACTC
Y
TGGGGACTCAGCCATAGCTCCCCCACCCCGCCCCCCCAAGCCAAGTCAGGCAGAAACACCTCGATGGGGCAGTCCTCAGCAGAGACCGCCAATCAGTGAA
Celera SNP ID:            hCV26530869
SNP Position Transcript:  1077
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:727, 306, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:1973):
AAGCCCAGTCTTGAGTTCTTGTCTTGTTACCATTTAAAATTGACATTTAATTTTCAAATCACTGTTGGTGCCTAATCACTTAAGTTATTAATTTATTCTG
W
TGTATTCTTTTTTTTAAATTGTAACATATTTATCCGGTGGGTGGGACAGGAGTGTGTTCAAGTGGGTCATGTTTTTGCTGTGGTGACACATGGTACAGGC
Celera SNP ID:            hCV966449
SNP Position Transcript:  5882
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1974):
TTCTCCCTGAACTTAAGATAGCCACAATCAGAAAAAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACAGAGACTTCAAATGCTGATGGAGGGCA
S
AGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCAGGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAGTGCCTGAGGTAGGCCTTAGAAGGGGA
Celera SNP ID:            hCV26530796
SNP Position Transcript:  4167
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1975):
CTAAGGACACAAGAATCAATCAGACCTTCTCCCTGAACTTAAGATAGCCACAATCAGAAAAAGGACAAGGACATGAGACAGTGGTGATGGCCATCAGACA
S
AGACTTCAAATGCTGATGGAGGGCAGAGGAAGTACTTAGGGAGGTTGGTGTCAGAGGCAGGAGTGGGGGATCAGGGAAGGTGGATTCTAGGAAAAGGGAG
Celera SNP ID:            hCV26530797
SNP Position Transcript:  4141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1976):
CCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGACCAATGGCCTAGCCATTCTCTAAGTCCCATCCTGGAAGAAGTTATTTCTTCAAGAG
S
TGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTATTTATTAATGGCTGCTGTCTCCAGTTTCTGGGGTTAAGCACTAAGGACACAAGAAT
Celera SNP ID:            hCV26530798
SNP Position Transcript:  3956
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1977):
GGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAG
R
CGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCCCCATT
Celera SNP ID:            hCV26530799
SNP Position Transcript:  3761
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1978):
AGAGCATCTGCCAGATCTGTGGCTTCAATCAGGCTGAGGAGAGCACAGACTCCCTGAGAAATGTTTCCTCAGCCGGTCATGGCCCCCGCTCTTCTCCAGC
Y
GAGCTCAGCAGCTCTAGCCAGCACCTTCTCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGT
Celera SNP ID:            hCV25771527
SNP Position Transcript:  475
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(T,40)   total(C,7|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 105, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:1979):
AATGCAGGGGAAGCCAGACTGGTCTCAGGAGCGCTAAAGCCCTTCCGTGGGGGGTCGTCTTTCTGGGACTAGCCCTGCTGTTTAGGACCTGGGACCACAA
Y
GGGGTACCTGCCGAGGGGGTCCCCAAGAGATCCAGGCTGTCATGTGATTTATGGTGGCATGTGTTGTGTATTTGTTGGCTACTTGTGTCTTGAAATCTAG
Celera SNP ID:            hCV8747886
SNP Position Transcript:  5626
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1980):
GTGGGTCATGTTTTTGCTGTGGTGACACATGGTACAGGCTTGGAGCTTGCAGGTCCCTTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAA
R
TGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGGGGCTTGGTGGTGGAACCCGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAA
Celera SNP ID:            hCV8747887
SNP Position Transcript:  6044
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1981):
TCACCTCTGATGAGAAGGTGGACTACGTTCAGGTGGACAAGGAGAAGACCCAGGCCCTGCAGAACACCATGCAGGAGTGGACAGACGTGCGGCAGTCCTC
R
GAGCCTTCCAAGGGTGCCAAGCTGTGATGAGAGGGCCACCGCAGAGCCCAGGAGGCAGCATCTCCAGAGCTGGCCCTTCCCATCTCCCCTCTCCCCTCTC
Celera SNP ID:            hCV26530811
SNP Position Transcript:  2050
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 630, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:1982):
TCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAG
M
CCAATGGCCTAGCCATTCTCTAAGTCCCATCCTGGAAGAAGTTATTTCTTCAAGAGCTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGT
Celera SNP ID:            hCV2324228
SNP Position Transcript:  3899
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1983):
GGGACAGCTACCACTGTCCTCTGCCCCCATTCCCCTTTCAGCTCCCATGAGCATGCATAGTTCACCAGACCAATGGCCTAGCCATTCTCTAAGTCCCATC
S
TGGAAGAAGTTATTTCTTCAAGAGCTGCACCTCTCCTCCTAGCATTAGTTTAGATCAACTCAAGGAGTATTTATTAATGGCTGCTGTCTCCAGTTTCTGG
Celera SNP ID:            hCV2324229
SNP Position Transcript:  3931
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1984):
CCCAGATGTTCTGGAATACTACAAGAACGATCACTCCAAGAAGCCTCTGCGGATCATCAACCTGAACTTCTGTGAGCAGGTAGATGCAGGCCTGACCTTT
R
ACAAGAAGGAGCTGCAGGATAGTTTTGTGTTTGACATCAAGACCAGTGAACGCACCTTTTACCTGGTGGCTGAGACAGAAGAGGACATGAATAAGTGGGT
Celera SNP ID:            hCV25743153
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:727, 38, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:1985):
CCTCCCATGGCCACACCAAGGGCAGCCTCACAGGCTCCGAGACAGATAATGAGGATGTGTACACCTTCAAGACGCCCAGCAACACCCTGTGCAGGGAGTT
Y
GGGGACCTCCTGGTAGACAATATGGATGTTCCGGCCACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGA
Celera SNP ID:            hCV26530870
SNP Position Transcript:  964
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,676|C,801)   total(C,801|T,676)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 268, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:1986):
GAATGGGAGGTTGGATTAGCTGCGCTGAGGTCCCATCCACAGCTGGTGCTCAGCTGCTTGAAGGGGAGACTCCCTCCTCTGTAACTTCTTTCTGGGGGAT
Y
GGGGTGGGCAGTACCTATCCCCAGTCCCCTCCTAGCTTGACTTTAGTGGTTTCCAATGTAGAAGTTAACAAAGTATGCCCCATTCCTGTGACAAAAGCAC
Celera SNP ID:            hCV26530784
SNP Position Transcript:  5294
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1987):
CCAGCCCCCTATTCTGGTAACTACCAAAATCCCTCGGGTGCAAGTGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGCAAAGCT
S
TGGCTCACAGGCCCCAAACTACCAGCCGTATCTAGCATATCCCCACCCTCCACCCACTACCTCCTCCAACAAAGGAGTCAACTCAGTTGAAAAAACTGGT
Celera SNP ID:            hCV26530788
SNP Position Transcript:  4857
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1988):
TCGGAGAGCGACTGAGGTGTTCAAATCGAATCTCCCAGGAGGCTTCCTTCCAGCCCCCTATTCTGGTAACTACCAGGAGGCTTCCTTCCAGCCCCCTATT
S
TGGTAACTACCAAAATCCCTCGGGTGCAAGTGTAGGGGTAGAGATGGAAGGATGAGAGGTGAAATTGACCTTTTGAAAGCAAAGCTCTGGCTCACAGGCC
Celera SNP ID:            hCV26530789
SNP Position Transcript:  4770
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1989):
GAAATTTTGAGAAGTGGTGGGATGAAGAAGATCCCTGAAGAGAGGAGTAACTGAGACAAAGG
M
GAGGCTAGCAATAGAGAGACAAGTGAGGGAATTAGACCTTTGGTATCATCATGAAAAGGCCTGGAAGAAACGCTGGTTTATCCTGCGGAGTGGCCGGATG
Celera SNP ID:            hCV15968457
SNP Position Transcript:  63
SNP Source:               Applera
Population(Allele,Count): african american(A,11|C,25)   caucasian(A,7|C,23)   total(A,18|C,48)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:727, None

SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,26)   caucasian(A,9|C,29)   total(A,21|C,55)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:727, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   JBIC-allele(A,684|C,816)   total(A,684|C,816) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1990):
CCCAAGGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAG
M
CCAGACGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCCAAACAATGACTTCCTGCCATGTTTGATGGGGACAGCTACCACTGTCCTCTGCCC
Celera SNP ID:            hCV26530800
SNP Position Transcript:  3756
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1991):
TCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGTCAAACCACATGCAGCCCACCTTGTCCAC
Y
AGCGCACCTCAGGAGTATCTCTACTTGCACCAGTGCATAAGCCGAAGAGCAGAAAATGCAAGGAGTGCCAGCTTCTCTCAGGGCACCAGAGCCTCTTTTC
Celera SNP ID:            hCV25772337
SNP Position Transcript:  604
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 148, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:1992):
CCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGGCATCACCCAAGGTTCCTTCTCTTAAACTAAGGGTGGGGGATCTGAATGTTT
W
TATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAGACGTTTCATTCTACCCTGGGGCGAACAGAACTTCTTCCTCCC
Celera SNP ID:            hCV26530801
SNP Position Transcript:  3702
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1993):
GAGCTTGCAGGTCCCTTTCTACTGTGGTGTTGGAGCAGGACAATAAAGTCCACTAGAAATGCACCCCAGAACCAGCTGCCGTGTCCATCTTGTCTTGAGG
R
GCTTGGTGGTGGAACCCGTTCTCACTCCAGTCTGTTCCAATTTTTGCTTTATTTGGAAATAATTGGGTATTTTTCTTGGCTGTGAATAAGAACAAATGCT
Celera SNP ID:            hCV8747895
SNP Position Transcript:  6086
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1994):
CATTCCAGGAGCCATCTTGGACTCTCCTCCCCAGGTTTGAAAGGCCATCAGATTAGCAGGGACGGGGTGTAGGGCATCACCCAAGGTTCCTTCTCTTAAA
M
TAAGGGTGGGGGATCTGAATGTTTTTATGTTGACTGTTCTTGACTAAATTTTCAAGAGTTTCAGAAGCAACAGGACAGACCAGACGTTTCATTCTACCCT
Celera SNP ID:            hCV26530802
SNP Position Transcript:  3677
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1995):
GAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAAGGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCTAGGCCCAAGGGCTA
K
TCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAGCCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGACCAAGCACATGGGGC
Celera SNP ID:            hCV26530804
SNP Position Transcript:  2915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1996):
CTAGAGCAGCAAGGAGCAGGGCTTGGAGCTCGGGTGGTGGAGATGACAAGGACACTGTGGGGTCTGGGTCCCCAGAACTCTGGAGCTACAGGCCACTCTA
K
GCCCAAGGGCTAGTCCTCTTCCCCAGTCCCCTCAGAGGCCCCCGCCAGCCCCACCTTGAAAGCAGCATACAGGGGAAGGCTTGGACCAAGCTGGGCGACC
Celera SNP ID:            hCV26530805
SNP Position Transcript:  2902
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1997):
TCCGGCCACTGGGCTACCTCTCCTTCAGTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACCAAAGTGGATAATGGACTTTTTCA
Y
TCCTGTTTTTCTTGGCAGGAGAGAAGCAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCTTGAGGGGTAAAGGACTTAGATGCC
Celera SNP ID:            hCV26530806
SNP Position Transcript:  2574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:1998):
AACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCC
M
TATGCAAAACCCAGTGTCTGCATCTCCCGTTCCCAGTGGCACGAACAGTCCTGCCCCTAAGAAGAGCACCGGCAGCGTTGATTATCTGGCCCTGGACTTC
Celera SNP ID:            hCV26530840
SNP Position Transcript:  1803
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:727, 548, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:1999):
CACAGCCCTCAGCTATCTTCCCTCCGGCCACTGGGCTACCTCTCCTTCAGTCCCAGAAGACAAGTCTCACCAACCCAGGGAGTCAAGGACCAGCAAACCA
R
AGTGGATAATGGACTTTTTCATTCCTGTTTTTCTTGGCAGGAGAGAAGCAAGGCCACTAAAAGAGGAGATGGTGGAGACGGAGGCTCAGCAGTGGTCTTG
Celera SNP ID:            hCV26530807
SNP Position Transcript:  2552
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:2000):
TTCAGCCACCCCCTGTCAACCGCAACCTCAAACCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTT
Y
AAGTCACCTATCACCAAGTCTTGGTCTAGGGCCAACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCA
Celera SNP ID:            hCV2324218
SNP Position Transcript:  1669
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 503, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2001):
TTCCTCCCATCCACCTCCTCTCTACTCTGCCAGTCTCAGCCTTCAAAGCACTTGACATCAGGGACCCTGAACCCTTCCCCTGGGAGGTGAGGGCCTGATC
R
AGGCACCTCCTCTGCCCACTCGGGGCCCAGCTGTGATTTTTATCAGTAATGGCCATGCCTCCACCCACCTTAGTTAGGAGCTACTTCCAAAAAGCATCCT
Celera SNP ID:            hCV26530808
SNP Position Transcript:  2257
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:727, None   



Context             (SEQ ID NO:2002):
CCTCAAACCTGATCGGAAAGCAAAGCCAACACCACTTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTTCAAGTCACCTATCACCAAGTCTTGG
K
CTAGGGCCAACCACACCTTCAACTCCAGCTCCTCCCAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAA
Celera SNP ID:            hCV966441
SNP Position Transcript:  1694
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:727, 512, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:2003):
ACAGCCGACTTCACCGAGCTTCTTCCTGTGAGACCTACGAGTACCCACAGCGTGGTGGAGAGAGTGCAGGCCGGTCTGCTGAATCCATGAGTGATGGAGT
Y
GGCTCTTTCCTGCCAGGGAAAATGATTGTGGGCCGATCGGACAGCACCAATTCTGAAGACAACTATGTGCCCATGAATCCAGGTTCTTCCACCCTGTTGG
Celera SNP ID:            hCV26530861
SNP Position Transcript:  1336
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)   JBIG-allele(G,691|A,800)   total(G,691|A,800)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 392, (V,GTG)   (V,GTA)      392, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:2004):
GAAATTTTGAGAAGTGGTGGGATGAAGAAGATCCCTGAAGAGAG
S
AGTAACTGAGACAAAGGCGAGGCTAGCAATAGAGAGACAAGTGAGGGAATTAGACCTTTGGTATCATCATGAAAAGGCCTGGAAGAAACGCTGGTTTATC
Celera SNP ID:            hCV25742996
SNP Position Transcript:  45
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,30)   caucasian(C,2|G,36)   total(C,10|G,66)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:727, None

SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,28)   caucasian(C,2|G,32)   total(C,8|G,60)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:727, None



Context             (SEQ ID NO:2005):
TTGACCTGAGGAACAACACCGTCATCGATGAACTCCCCTTCAAGTCACCTATCACCAAGTCTTGGTCTAGGGCCAACCACACCTTCAACTCCAGCTCCTC
M
CAGTACTGCCGCCCCATCTCCACCCAGAGCATCACCAGCACAGACTCAGGAGACAGCGAAGAGAACTATGTCCCTATGCAAAACCCAGTGTCTGCATCTC
Celera SNP ID:            hCV966442
SNP Position Transcript:  1729
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:727, 523, (S,TCA)   (S,TCC)      



Gene Number:                 13
Celera Gene:                 hCG1640630 - 66000115967090
Celera Transcript:           hCT1640757 - 66000115967091
Public Transcript Accession: 
Celera Protein:              hCP1621477 - 197000064927354
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY08(8620787..8623629)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:31):
TTCCGCAGGCAGCTGCATAAGCTGCRGTACCGCCGGACGTCAGAGCCACCTTGGCGTTCACCCTGGGCTCTGCCTATACACTTGGCTGGCCACCCCGAGT
CACCAAGGACAAGGGTCCTTCCCTCAGAACCCTGTCCCACAACCTGGTCAAAAACTCCAAGAAGACCATCAGGCACCAGCATGTCACTCTTAAGAAGTAC
AACCCCCCCAAGCTGGCAGCACCRGGGCCAGCTGCCCCCTGAAGACCAAGGGGACGAGATCTCAGTGTCAGAGGAGCTGGAGCCCAGCACGCTGACCCCG
GCCTCAGCTCTGAAGCCCTCAGACGGCATGACCATCAGCAGCCTGGTGGAAGAGGCTTGCTGCCGCAACTAGCAGTRCCTCGGRMTGGGCACCCTGAGCA
GCAGCCTGAGCTGGGCCAAAGCTCTTCCGCATTTCTCTGGACAACCGCATGTTGACCACCAACTGCTGCAGCTACCCGGGGCTGCTGATCGTGCCCCAGG
GTGTCCAGGACAAYGCCCTGCAGTGGGTGTCCCACTGCTACTACCAGAACTGCTTCCCCGTAATCTGCTGGTRCAGCGGGTGGTCCAAGGCAGTGCTGCT
GCGCTCTGGGGCCTGCAGGGCAGAGGTGTCCTCGGCCTCTTCAAGGCCCAGAACGCACCTTCTCCAGGCCMGTCCCAGGTGGACTCGAGTAGCCTGGAGC
AGGAGAAGTACCTGCAGGCTGTGGTCAGTTCCATGCCCCACTATGCCGACGCGTCGGGACGCAACATGCTTACCGGCTTCTCCTCAGCCCACATGGGCAG
TCACATTCCCAGCCCCRGAGCCAGGGTCATCACACTGTCCAACCCCATGGCGCCCTTGCCCTCCAGATGGACTGCACCCCGAAGTAAGTGGGGCAGTGTC
CAGACCAGCGGGCGCAGCAGTGGGCTTGGYGCCAATATGGGCTCCTGGTTAGTTGGCAGAGACGTGCTGGCCCCACCCCAGGCAACAGGGCCCCCTCGCC
CACCCGGGCTTCCTGCGGCTGCAGCGAGTAGCCCTCTACRTCCTCRGGAACAAAGCCCAGCTCAAGGGTGTGCGGCCAGACTCCCTGCAGCAGTGGGAGC
TGGTGCCCATTGAGGTATTCGAGGAACAGCAGGTGAAGGCCAACTTCAAGAAGCTGCTGAAGGCATGTGTCCCGGGCTGCCCCGCTGCTGAGCCCAGCCC
AGCCTCCTTCCTGTGCTTGCTGGAGGACTCGGAGCGGCTGACCCCAATCCACAAGCTGCTGCAGGTGCCAGTGCTGGTGGTGGAGCCCCTGGATTCAGAC
TCCTCTGTGCTGGTGGGCCTGGAGGATGGCTGGGACATCACCTCYCAGGTGGTATCCTTGGTGCAGCTGCTCTCAGACCCCTTCTATTGCACGCTGGAGA
GCTTCCGCCTGCCAGTGGAGAAGAAGTGGTTGTCCTTCAGTCATCCCTTCAGCCACCGTGGAGCCCACACCCTGGCTGGGCARAGCAGCGGCTTCACACC
TGCCTTCCTGTAGTTCCTGGACTGTGTAACACCAGGTCCATCTGCAGTTCTCCATGGAGTTTGAGTTCAGCCAGTTCTACCTCAGGTTCCTCGGCTGCCA
CCATATGTCCCGCCGTTCCGGACCTTCCTACTTGACTCTGACCCTGAGAGCATTGAGCTGGGGCTGCTGTATGAGGAGAAGGGGGAACGCAGGGGCCAGC
TGCTGTGCAGGTCTTTGTGGGAGTGTGTGGACCGGCTGAGCAAGAGGACGCCCATGTTCTACAATTMCATGCATGCACCCGAGGACACAGAGCTCCCGCA
GCCCTACAGCAACGTGTCCAACCTGAAGGTGTGGGATTTCTACACTGAGGAGATACTGGCCAAGGGCCCTCCCTATGACTGGGAACTGGCCCARGGGCCC
CCTGGGCCCCTGGAGGAAGAACGGTCTGACGGAGGTGCTCCCCAGTGCAGGCACCGCGTGGCGTGGCCCTGCTACGACAGCTGCCCCTGACCCCAGCCTG
ATGCTATCTCACTTCTGCTGGAGGAGCTGCAGAGGCTGGAGACAGAGCTGGGCTAATGCCCTCAGTGATGGAAGGACACCTGGGACCAGGTGAAGGCTGC
ACAGCGCCTGGAAGGCTGGCCAGACGGAAGTGGCACCCCTAGCTCCCTTCTAGTGTCCACTGCACCCCACCACCACCGTTCCTGGGTGTGTGACTGCCGG
AGGGGCCCGTGGGCTCCACCCTGAGCCTCAGCCTGGACAGCGACCAGAGTAGTGGCTCGACCGCTTCTGGCTCCTGCCAGGCTGCCCGCCACAGCACCAG
CACCCTGTGCAGCCAGTTCCAGAGAGCTGAGAGTGAGAACGGGTCCAACGAGGGCACTCTGTAGAAGAAGGAGGCCTTCATGAAGCCTTGGAAGGCCCGC
TGGTTCATGTTGGACAAGACCAGCACCAGCTGTGCTACTRCAACCACTGTGTGGACACAGAGTGCAAGGGTGTCATCGACTGGCGGAGGTGGAGGCTGTG
GCAGGGGCACGCCCTAAGACCATGGATGAGAAGGCTTTCTTTGACGTGAAGACAACACTTTGCGTTTACAACATCTGTGCCCAGGATATGCCCTTGGCCC
AGCAGTGGGTGGACGGGATCCAGAGCTGCCTGTCAGACACCTGAGCCTCCCGGCCCYGCCCAGCTGCTCTGCTTCCGGTCGTTACTGACCACTAGGGGTG
GGCAGGGCTGCCCCAGCCATCTTTACTGCCCCAGCCCTCAACAATATTGAGGCCCTGAGCCCCCAGCACATGGTGCATACAGCCCCTGCCCCATCCCGCC
CYGCCCCACCCAGCTGGCCCTAACTTATTTTGGGGTCACAGC

Protein Sequence    (SEQ ID NO:728):
MPHYADASGRNMLTGFSSAHMGSHIPSPRARVITLSNPMAPLPSRWTAPRSKWGSVQTSGRSSGLGANMGSWLVGRDVLAPPQATGPPRPPGLPAAAASS
PLHPREQSPAQGCAARLPAAVGAGAH


SNP Information

Context             (SEQ ID NO:2006):
GGCTGTGGTCAGTTCCATGCCCCACTATGCCGACGCGTCGGGACGCAACATGCTTACCGGCTTCTCCTCAGCCCACATGGGCAGTCACATTCCCAGCCCC
R
GAGCCAGGGTCATCACACTGTCCAACCCCATGGCGCCCTTGCCCTCCAGATGGACTGCACCCCGAAGTAAGTGGGGCAGTGTCCAGACCAGCGGGCGCAG
Celera SNP ID:            hCV25747666
SNP Position Transcript:  817
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:728, 29, (R,AGA)   (G,GGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|G,1)   total(A,69|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:728, 29, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:2007):
CTGGAGCCCAGCACGCTGACCCCGGCCTCAGCTCTGAAGCCCTCAGACGGCATGACCATCAGCAGCCTGGTGGAAGAGGCTTGCTGCCGCAACTAGCAGT
R
CCTCGGGCTGGGCACCCTGAGCAGCAGCCTGAGCTGGGCCAAAGCTCTTCCGCATTTCTCTGGACAACCGCATGTTGACCACCAACTGCTGCAGCTACCC
Celera SNP ID:            hCV2482660
SNP Position Transcript:  377
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,11)   caucasian(A,28|G,10)   total(A,47|G,21)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Applera
Population(Allele,Count): african american(G,2)   caucasian(A,3|G,5)   total(A,3|G,7)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,9)   total(G,3|A,9) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2008):
TCACACTGTCCAACCCCATGGCGCCCTTGCCCTCCAGATGGACTGCACCCCGAAGTAAGTGGGGCAGTGTCCAGACCAGCGGGCGCAGCAGTGGGCTTGG
Y
GCCAATATGGGCTCCTGGTTAGTTGGCAGAGACGTGCTGGCCCCACCCCAGGCAACAGGGCCCCCTCGCCCACCCGGGCTTCCTGCGGCTGCAGCGAGTA
Celera SNP ID:            hCV2482661
SNP Position Transcript:  930
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,23|T,17)   total(C,46|T,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:728, 66, (G,GGC)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,8)      total(C,3|T,8) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:728, 66, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:2009):
GGCTCCTGGTTAGTTGGCAGAGACGTGCTGGCCCCACCCCAGGCAACAGGGCCCCCTCGCCCACCCGGGCTTCCTGCGGCTGCAGCGAGTAGCCCTCTAC
R
TCCTCGGGAACAAAGCCCAGCTCAAGGGTGTGCGGCCAGACTCCCTGCAGCAGTGGGAGCTGGTGCCCATTGAGGTATTCGAGGAACAGCAGGTGAAGGC
Celera SNP ID:            hCV2482662
SNP Position Transcript:  1040
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,21)   caucasian(A,18|G,22)   total(A,31|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:728, 103, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,9)      total(G,5|A,9) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:728, 103, (H,CAT)   (R,CGT)      103, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:2010):
CTGTATGAGGAGAAGGGGGAACGCAGGGGCCAGCTGCTGTGCAGGTCTTTGTGGGAGTGTGTGGACCGGCTGAGCAAGAGGACGCCCATGTTCTACAATT
M
CATGCATGCACCCGAGGACACAGAGCTCCCGCAGCCCTACAGCAACGTGTCCAACCTGAAGGTGTGGGATTTCTACACTGAGGAGATACTGGCCAAGGGC
Celera SNP ID:            hCV2482663
SNP Position Transcript:  1767
SNP Source:               Applera
Population(Allele,Count): african american(A,34|C,2)   caucasian(A,37|C,1)   total(A,71|C,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,5|A,6)   total(A,6|C,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2011):
ACTTTGCGTTTACAACATCTGTGCCCAGGATATGCCCTTGGCCCAGCAGTGGGTGGACGGGATCCAGAGCTGCCTGTCAGACACCTGAGCCTCCCGGCCC
Y
GCCCAGCTGCTCTGCTTCCGGTCGTTACTGACCACTAGGGGTGGGCAGGGCTGCCCCAGCCATCTTTACTGCCCCAGCCCTCAACAATATTGAGGCCCTG
Celera SNP ID:            hCV2482664
SNP Position Transcript:  2657
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,5)   total(C,5|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2012):
GCAGGGCTGCCCCAGCCATCTTTACTGCCCCAGCCCTCAACAATATTGAGGCCCTGAGCCCCCAGCACATGGTGCATACAGCCCCTGCCCCATCCCGCCC
Y
GCCCCACCCAGCTGGCCCTAACTTATTTTGGGGTCACAGC
Celera SNP ID:            hCV2482665
SNP Position Transcript:  2802
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,10)   total(C,10|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2013):
TTCCGCAGGCAGCTGCATAAGCTGC
R
GTACCGCCGGACGTCAGAGCCACCTTGGCGTTCACCCTGGGCTCTGCCTATACACTTGGCTGGCCACCCCGAGTCACCAAGGACAAGGGTCCTTCCCTCA
Celera SNP ID:            hCV27855555
SNP Position Transcript:  26
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,17)   caucasian(G,20)   total(A,1|G,37)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2014):
TCCCGCAGCCCTACAGCAACGTGTCCAACCTGAAGGTGTGGGATTTCTACACTGAGGAGATACTGGCCAAGGGCCCTCCCTATGACTGGGAACTGGCCCA
R
GGGCCCCCTGGGCCCCTGGAGGAAGAACGGTCTGACGGAGGTGCTCCCCAGTGCAGGCACCGCGTGGCGTGGCCCTGCTACGACAGCTGCCCCTGACCCC
Celera SNP ID:            hCV25743764
SNP Position Transcript:  1894
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,19)   caucasian(A,11|G,21)   total(A,24|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,16)   caucasian(A,18|G,18)   total(A,36|G,34)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2015):
CCAGCACGCTGACCCCGGCCTCAGCTCTGAAGCCCTCAGACGGCATGACCATCAGCAGCCTGGTGGAAGAGGCTTGCTGCCGCAACTAGCAGTACCTCGG
R
CTGGGCACCCTGAGCAGCAGCCTGAGCTGGGCCAAAGCTCTTCCGCATTTCTCTGGACAACCGCATGTTGACCACCAACTGCTGCAGCTACCCGGGGCTG
Celera SNP ID:            hCV25746801
SNP Position Transcript:  384
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,26)   caucasian(A,8|G,30)   total(A,14|G,56)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,3)   caucasian(A,4|G,12)   total(A,5|G,15)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2016):
GGCCAAAGCTCTTCCGCATTTCTCTGGACAACCGCATGTTGACCACCAACTGCTGCAGCTACCCGGGGCTGCTGATCGTGCCCCAGGGTGTCCAGGACAA
Y
GCCCTGCAGTGGGTGTCCCACTGCTACTACCAGAACTGCTTCCCCGTAATCTGCTGGTGCAGCGGGTGGTCCAAGGCAGTGCTGCTGCGCTCTGGGGCCT
Celera SNP ID:            hCV25749037
SNP Position Transcript:  514
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,11)   caucasian(C,19|T,15)   total(C,36|T,26)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2017):
CAGCACGCTGACCCCGGCCTCAGCTCTGAAGCCCTCAGACGGCATGACCATCAGCAGCCTGGTGGAAGAGGCTTGCTGCCGCAACTAGCAGTACCTCGGG
M
TGGGCACCCTGAGCAGCAGCCTGAGCTGGGCCAAAGCTCTTCCGCATTTCTCTGGACAACCGCATGTTGACCACCAACTGCTGCAGCTACCCGGGGCTGC
Celera SNP ID:            hCV25746802
SNP Position Transcript:  385
SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,24)   caucasian(A,10|C,28)   total(A,18|C,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|C,4)   caucasian(A,6|C,8)   total(A,10|C,12)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2018):
CAATCCACAAGCTGCTGCAGGTGCCAGTGCTGGTGGTGGAGCCCCTGGATTCAGACTCCTCTGTGCTGGTGGGCCTGGAGGATGGCTGGGACATCACCTC
Y
CAGGTGGTATCCTTGGTGCAGCTGCTCTCAGACCCCTTCTATTGCACGCTGGAGAGCTTCCGCCTGCCAGTGGAGAAGAAGTGGTTGTCCTTCAGTCATC
Celera SNP ID:            hCV26207574
SNP Position Transcript:  1345
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2019):
TCAGAACCCTGTCCCACAACCTGGTCAAAAACTCCAAGAAGACCATCAGGCACCAGCATGTCACTCTTAAGAAGTACAACCCCCCCAAGCTGGCAGCACC
R
GGGCCAGCTGCCCCCTGAAGACCAAGGGGACGAGATCTCAGTGTCAGAGGAGCTGGAGCCCAGCACGCTGACCCCGGCCTCAGCTCTGAAGCCCTCAGAC
Celera SNP ID:            hCV27834079
SNP Position Transcript:  224
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,26)   caucasian(A,8|G,30)   total(A,16|G,56)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2020):
GTGCAGCGGGTGGTCCAAGGCAGTGCTGCTGCGCTCTGGGGCCTGCAGGGCAGAGGTGTCCTCGGCCTCTTCAAGGCCCAGAACGCACCTTCTCCAGGCC
M
GTCCCAGGTGGACTCGAGTAGCCTGGAGCAGGAGAAGTACCTGCAGGCTGTGGTCAGTTCCATGCCCCACTATGCCGACGCGTCGGGACGCAACATGCTT
Celera SNP ID:            hCV25748159
SNP Position Transcript:  671
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,3)   caucasian(A,40)   total(A,69|C,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2021):
TACCCGGGGCTGCTGATCGTGCCCCAGGGTGTCCAGGACAATGCCCTGCAGTGGGTGTCCCACTGCTACTACCAGAACTGCTTCCCCGTAATCTGCTGGT
R
CAGCGGGTGGTCCAAGGCAGTGCTGCTGCGCTCTGGGGCCTGCAGGGCAGAGGTGTCCTCGGCCTCTTCAAGGCCCAGAACGCACCTTCTCCAGGCCAGT
Celera SNP ID:            hCV25748613
SNP Position Transcript:  573
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,27)   caucasian(A,3|G,37)   total(A,8|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2022):
TCTATTGCACGCTGGAGAGCTTCCGCCTGCCAGTGGAGAAGAAGTGGTTGTCCTTCAGTCATCCCTTCAGCCACCGTGGAGCCCACACCCTGGCTGGGCA
R
AGCAGCGGCTTCACACCTGCCTTCCTGTAGTTCCTGGACTGTGTAACACCAGGTCCATCTGCAGTTCTCCATGGAGTTTGAGTTCAGCCAGTTCTACCTC
Celera SNP ID:            hCV25771685
SNP Position Transcript:  1483
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,40)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None



Context             (SEQ ID NO:2023):
CGGGTCCAACGAGGGCACTCTGTAGAAGAAGGAGGCCTTCATGAAGCCTTGGAAGGCCCGCTGGTTCATGTTGGACAAGACCAGCACCAGCTGTGCTACT
R
CAACCACTGTGTGGACACAGAGTGCAAGGGTGTCATCGACTGGCGGAGGTGGAGGCTGTGGCAGGGGCACGCCCTAAGACCATGGATGAGAAGGCTTTCT
Celera SNP ID:            hCV27989686
SNP Position Transcript:  2440
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:728, None   



Context             (SEQ ID NO:2024):
TGGTTAGTTGGCAGAGACGTGCTGGCCCCACCCCAGGCAACAGGGCCCCCTCGCCCACCCGGGCTTCCTGCGGCTGCAGCGAGTAGCCCTCTACATCCTC
R
GGAACAAAGCCCAGCTCAAGGGTGTGCGGCCAGACTCCCTGCAGCAGTGGGAGCTGGTGCCCATTGAGGTATTCGAGGAACAGCAGGTGAAGGCCAACTT
Celera SNP ID:            hCV25769063
SNP Position Transcript:  1046
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,4|G,36)   total(A,7|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:728, 105, (Q,CAG)   (R,CGG)   



Gene Number:                 14
Celera Gene:                 hCG1640757 - 145000147123920
Celera Transcript:           hCT1953147 - 145000147123967
Public Transcript Accession: NM_013325
Celera Protein:              hCP1765714 - 197000064951707
Public Protein Accession:    NP_037457
Gene Symbol:                 Apg4B
Protein Name:                autophagin-1;AUTL1;DKFZp586D1822;KIAA0943;MGC1353
Celera Genomic Axis:         GA_x5YUV32VWPT(47163330..47199594)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:32):
TTGCTGGCCCGTCGGAGCGACGCCGCTCGGGTCAGTCGGCGGCCGGACTGGGAAGATGGACGCAGCTACTCTGACCTACGACACTCTCCGGTTTGCTGAG
TTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATTTTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTA
GACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGRAGGTTGTCGGGACATTTCACTCTCCAGTAAATGTGGCCCTTGGCGTTACTGAGTCCTAAG
AGGGGGGACAGGCCCCACCTCGGACACAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGA
GATTGGAGGTGGACACAAAGGAAGAGRCAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGA
TAGCGCAAATGGGAGTTGGCGAAGGCAAGTCCATAGGCCAGTGGTACGGGCCCAACACTGTCGCCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTG
GAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCRTTCCCTGTGCAGGCGCCACTGCG
TTTCCTGCAGATTCCGACCGGCACTGCAAYGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCC
TGCGCCTGGGGCTCACGGACATCAACGAGGCCTACGTGGAGACGCTGAAGCACTGCTTCATGATGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAA
CAGCGCCCACTACTTCATCGGCTACGTTGGTGAGGAGCTCATCTACCTGGACCCCCACACCACGCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATC
CCGGACGAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATG
ACTTCARTGATTGGTGCCAGCAAGTCAAAAAGCTRTCTCTGCTYGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCWGCAGCCTTCACATCTGGCCTG
CCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCCAGGTGGGGTCCCTCGGAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGAC
TCAGAAGATGAAGACTTTGAAATCCTGTCCCTTTGAAAATCCTGGGGTCGGGGGTGGCACCTGTGAGAGCCTGGGGCTCCTGGTGCCGCTGCGTTTCATC
CATCCCGCCCGCTCGCCTGCCGAGGGCTGCGCCCCGTGCTGCCTCCCCCCAGAGGGCCACCCGCTGTGCTCGTGGACTGAGGCTGCGCTGCCCGGGAGGC
CTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAGYGTTCTCTCG
ACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGTC
AGACACAGACATGAATTTCTKGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACYGCGGCCCCACG
CCCAAGGAYTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTGG
AGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGGAAACCTGAAGATGGCGTGCACAGGACACAGCGTGGK
CGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCC
CAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAGYCAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTT
GCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTTAGGGCCAAAAGGGGAAAACCACTTGAGTCTTGTGGTGTGTGGTGGGCAGACACCACA
GGGTGGCATCACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGC
ACTCTGCCCCRCTGCTCTGCTGCCTGTCCTGGGAAAGTAKCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATG
AGCAGCTACTGCGGCRTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCYRGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCAC
TGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATTTCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGGT
GGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCRCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGKAATGTGTGGGA
CMCCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCAATTCTTAATGG
CAAATAATAAGTTTCAGTAG

Protein Sequence    (SEQ ID NO:729):
MLRCGQMIFAQALVCRHLGRDWRWTQRKRQPDSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTV
VMEEIRRLCRTSVPCAGATAFPADSDRHCNGFPAGAEVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEEL
IYLDPHTTQPAVEPTDGCFIPDESFHCQHPPCRMSIAELDPSIAVGFFCKTEDDFNDWCQQVKKLSLLGGALPMFELVEQQPSHLACPDVLNLSLGESCQ
VQVGSLGDSSDVERLERFFDSEDEDFEILSL


SNP Information

Context             (SEQ ID NO:2025):
CTGGGTAGAAAATACAGCATTTTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTAGACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTG
R
AGGTTGTCGGGACATTTCACTCTCCAGTAAATGTGGCCCTTGGCGTTACTGAGTCCTAAGAGGGGGGACAGGCCCCACCTCGGACACAGGCTGGGGCTGC
Celera SNP ID:            hCV27833838
SNP Position Transcript:  240
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,14)   total(A,1|G,51)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:729, None



Context             (SEQ ID NO:2026):
ACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCC
R
CTGCTCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTG
Celera SNP ID:            hCV7440088
SNP Position Transcript:  2411
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2027):
GGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGAC
M
CCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCAATTCTTAATGGCA
Celera SNP ID:            hCV27469813
SNP Position Transcript:  2802
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2028):
TCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGC
R
TTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCCGGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGG
Celera SNP ID:            hCV410264
SNP Position Transcript:  2516
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2029):
TGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAG
Y
CAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTT
Celera SNP ID:            hCV410265
SNP Position Transcript:  2143
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,17)   caucasian(C,15|T,23)   total(C,28|T,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,3)   total(C,3|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2030):
GAGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGGAAACCTGAAGATGGCGTGCACAGGACACAGCGTGG
K
CGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCC
Celera SNP ID:            hCV410267
SNP Position Transcript:  2000
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,16)   caucasian(G,8|T,20)   total(G,18|T,36)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Applera
Population(Allele,Count): african american(G,19|T,19)   caucasian(G,15|T,23)   total(G,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Celera
Population(Allele,Count): no_pop(G,4|T,4)   total(G,4|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2031):
ACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGA
Y
TGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTGGAGGAACGAA
Celera SNP ID:            hCV25638803
SNP Position Transcript:  1809
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36|T,4)   total(C,73|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,20|T,2)   total(C,46|T,2)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None



Context             (SEQ ID NO:2032):
GCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCT
Y
GGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCC
Celera SNP ID:            hCV25638820
SNP Position Transcript:  1144
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,7|T,33)   total(C,10|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:729, 268, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2033):
CCCGGGAGGCCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAG
Y
GTTCTCTCGACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTT
Celera SNP ID:            hCV410269
SNP Position Transcript:  1591
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,14|T,6)   total(C,26|T,12)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,11)   caucasian(C,21|T,15)   total(C,44|T,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;POOLE|_CEPH(C,74|T,114)   total(C,74|T,114)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2034):
CAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAG
R
CAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCA
Celera SNP ID:            hCV25638813
SNP Position Transcript:  427
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:729, 29, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:2035):
GCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGTCAGACACAGACATGAATTTCT
K
GGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGACTGGGCTGCTCTC
Celera SNP ID:            hCV11536251
SNP Position Transcript:  1721
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(G,19|T,1)   total(G,33|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               Celera
Population(Allele,Count): no_pop(-,4|G,4)   total(G,4|-,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2036):
TTTGAAGTTGTCAGACACAGACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACAC
Y
GCGGCCCCACGCCCAAGGACTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGA
Celera SNP ID:            hCV25638807
SNP Position Transcript:  1789
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None



Context             (SEQ ID NO:2037):
AGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGAC
G
GGGGGGGCGGGGCCTCCACCTGTGACAGTCAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCC
Celera SNP ID:            hCV11536252
SNP Position Transcript:  2114
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,3)   total(G,3|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2038):
ACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGC
Y
GGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATT
Celera SNP ID:            hCV25638808
SNP Position Transcript:  2564
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,18)   total(C,45|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None



Context             (SEQ ID NO:2039):
GCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCT
R
TCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCT
Celera SNP ID:            hCV25638816
SNP Position Transcript:  1135
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:729, 265, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:2040):
TTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGC
W
GCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCCAGGTGGGGTCCCTCGGAGATTCTTCTGATGTAGAG
Celera SNP ID:            hCV11536245
SNP Position Transcript:  1179
SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,31|T,9)   total(A,65|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:729, 280, (Q,CAG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:729, 280, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:2041):
GAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCA
R
TGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGAC
Celera SNP ID:            hCV25638834
SNP Position Transcript:  1107
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,33|G,1)   total(A,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:729, 256, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:2042):
GAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGC
R
TTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAG
Celera SNP ID:            hCV25638826
SNP Position Transcript:  677
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:729, 113, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2043):
ACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAA
Y
GGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGG
Celera SNP ID:            hCV25638827
SNP Position Transcript:  730
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:729, 130, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2044):
CATTGAAGACATAGTGTATTTCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCC
R
CGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGG
Celera SNP ID:            hCV7440082
SNP Position Transcript:  2745
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,16|G,22)   total(A,39|G,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;POOLE|_CEPH(G,51|A,137)   total(G,51|A,137)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2045):
CAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCC
R
GAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATTT
Celera SNP ID:            hCV7440083
SNP Position Transcript:  2565
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,19)   caucasian(A,7|G,15)   total(A,16|G,34)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2046):
TGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGG
K
AATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCA
Celera SNP ID:            hCV7440075
SNP Position Transcript:  2789
SNP Source:               Applera
Population(Allele,Count): african american(G,14|T,20)   caucasian(G,22|T,16)   total(G,36|T,36)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Context             (SEQ ID NO:2047):
CGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCCACTGCTCTGCTGCCTGTCCTGGGAAAGTA
K
CTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCT
Celera SNP ID:            hCV7440084
SNP Position Transcript:  2440
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:729, None   



Gene Number:                 14
Celera Gene:                 hCG1640757 - 145000147123920
Celera Transcript:           hCT1640884 - 145000147123921
Public Transcript Accession: NM_013325
Celera Protein:              hCP1605229 - 197000064951703
Public Protein Accession:    NP_037457
Gene Symbol:                 Apg4B
Protein Name:                autophagin-1;AUTL1;DKFZp586D1822;KIAA0943;MGC1353
Celera Genomic Axis:         GA_x5YUV32VWPT(47176681..47199594)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:33):
CTACTCTGACCTACGACACTCTCCGGTTTGCTGAGTTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATTTTCAC
AGAAAAGGACGAGATCTTGTCTGATGTGGCATCTAGACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGGGGGGACAGGCCCCACCTCGGACACA
GGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAGRC
AGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCAA
GTCCATAGGCCAGTGGTACGGGCCCAACACTGTCGCCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATG
GACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCRTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCA
AYGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGA
GGCCTACGTGGAGACGCTGAAGCACTGCTTCATGATGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAACAGCGCCCACTACTTCATCGGCTACGTT
GGTGAGGAGCTCATCTACCTGGACCCCCACACCACGCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATCCCGGACGAGAGCTTCCACTGCCAGCACC
CGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCARTGATTGGTGCCAGCAAGTCAA
AAAGCTRTCTCTGCTYGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCWGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGAT
TCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAGAAGATGAAGACTTTGAAATCCTGTCCCTTTGAAAATCCTGGGGTCGGGGGTGGCACCTGT
GAGAGCCTGGGGCTCCTGGTGCCGCTGCGTTTCATCCATCCCGCCCGCTCGCCTGCCGAGGGCTGCGCCCCGTGCTGCCTCCCCCCAGAGGGCCACCCGC
TGTGCTCGTGGACTGAGGCTGCGCTGCCCGGGAGGCCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCG
GAGCCGTCTGTTAGGAGCTTCCAGAGYGTTCTCTCGACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGT
GGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGTCAGACACAGACATGAATTTCTKGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTG
GCGTGAGAGGAGCGGCAGCCACACYGCGGCCCCACGCCCAAGGAYTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGG
CTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTGGAGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGG
AAACCTGAAGATGGCGTGCACAGGACACAGCGTGGKCGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTC
CCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAGYCAGGCTTGAGGGTGGACGGCG
TGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTTAGGGCCAAAAGGGGAAAACCA
CTTGAGTCTTGTGGTGTGTGGTGGGCAGACACCACAGGGTGGCATCACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTG
ACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCCRCTGCTCTGCTGCCTGTCCTGGGAAAGTAKCTTTGCCCCACTAGGAAATGTAAA
CAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCRTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCY
RGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATT
TCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCRCGTCCGAGTTCATGGTGCG
CCGCTGTGCTGGGAGCTGCAGTGGKAATGTGTGGGACMCCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTG
TTCATTCTTAGTAGTATAGTTTGCAATTCTTAATGGCAAATAATAAGTTTCAGTAG

Protein Sequence    (SEQ ID NO:730):
MLRCGQMIFAQALVCRHLGRDWRWTQRKRQPDSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTV
VMEEIRRLCRTSVPCAGATAFPADSDRHCNGFPAGAEVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEEL
IYLDPHTTQPAVEPTDGCFIPDESFHCQHPPCRMSIAELDPSIAVGFFCKTEDDFNDWCQQVKKLSLLGGALPMFELVEQQPSHLACPDVLNLSLDSSDV
ERLERFFDSEDEDFEILSL


SNP Information

Context             (SEQ ID NO:2048):
ACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCC
R
CTGCTCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTG
Celera SNP ID:            hCV7440088
SNP Position Transcript:  2247
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2049):
GGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGAC
M
CCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCAATTCTTAATGGCA
Celera SNP ID:            hCV27469813
SNP Position Transcript:  2638
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2050):
TCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGC
R
TTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCCGGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGG
Celera SNP ID:            hCV410264
SNP Position Transcript:  2352
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2051):
TGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAG
Y
CAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTT
Celera SNP ID:            hCV410265
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,17)   caucasian(C,15|T,23)   total(C,28|T,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,3)   total(C,3|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2052):
GAGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGGAAACCTGAAGATGGCGTGCACAGGACACAGCGTGG
K
CGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCC
Celera SNP ID:            hCV410267
SNP Position Transcript:  1836
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,16)   caucasian(G,8|T,20)   total(G,18|T,36)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Applera
Population(Allele,Count): african american(G,19|T,19)   caucasian(G,15|T,23)   total(G,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Celera
Population(Allele,Count): no_pop(G,4|T,4)   total(G,4|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2053):
ACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGA
Y
TGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTGGAGGAACGAA
Celera SNP ID:            hCV25638803
SNP Position Transcript:  1645
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36|T,4)   total(C,73|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,20|T,2)   total(C,46|T,2)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None



Context             (SEQ ID NO:2054):
GCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCT
Y
GGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGC
Celera SNP ID:            hCV25638820
SNP Position Transcript:  1016
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,7|T,33)   total(C,10|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:730, 268, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2055):
CCCGGGAGGCCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAG
Y
GTTCTCTCGACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTT
Celera SNP ID:            hCV410269
SNP Position Transcript:  1427
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,14|T,6)   total(C,26|T,12)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,11)   caucasian(C,21|T,15)   total(C,44|T,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;POOLE|_CEPH(C,74|T,114)   total(C,74|T,114)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2056):
CAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAG
R
CAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCA
Celera SNP ID:            hCV25638813
SNP Position Transcript:  299
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:730, 29, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:2057):
GCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGTCAGACACAGACATGAATTTCT
K
GGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGACTGGGCTGCTCTC
Celera SNP ID:            hCV11536251
SNP Position Transcript:  1557
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(G,19|T,1)   total(G,33|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               Celera
Population(Allele,Count): no_pop(-,4|G,4)   total(G,4|-,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2058):
TTTGAAGTTGTCAGACACAGACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACAC
Y
GCGGCCCCACGCCCAAGGACTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGA
Celera SNP ID:            hCV25638807
SNP Position Transcript:  1625
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None



Context             (SEQ ID NO:2059):
AGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGAC
G
GGGGGGGCGGGGCCTCCACCTGTGACAGTCAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCC
Celera SNP ID:            hCV11536252
SNP Position Transcript:  1950
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,3)   total(G,3|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2060):
ACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGC
Y
GGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATT
Celera SNP ID:            hCV25638808
SNP Position Transcript:  2400
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,18)   total(C,45|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None



Context             (SEQ ID NO:2061):
GCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCT
R
TCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTG
Celera SNP ID:            hCV25638816
SNP Position Transcript:  1007
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:730, 265, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:2062):
TTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGC
W
GCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAGAAGATGAAGAC
Celera SNP ID:            hCV11536245
SNP Position Transcript:  1051
SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,31|T,9)   total(A,65|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:730, 280, (Q,CAG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:730, 280, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:2063):
GAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCA
R
TGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGAC
Celera SNP ID:            hCV25638834
SNP Position Transcript:  979
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,33|G,1)   total(A,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:730, 256, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:2064):
GAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGC
R
TTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAG
Celera SNP ID:            hCV25638826
SNP Position Transcript:  549
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:730, 113, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2065):
ACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAA
Y
GGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGG
Celera SNP ID:            hCV25638827
SNP Position Transcript:  602
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:730, 130, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2066):
CATTGAAGACATAGTGTATTTCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCC
R
CGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGG
Celera SNP ID:            hCV7440082
SNP Position Transcript:  2581
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,16|G,22)   total(A,39|G,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;POOLE|_CEPH(G,51|A,137)   total(G,51|A,137)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2067):
CAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCC
R
GAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATTT
Celera SNP ID:            hCV7440083
SNP Position Transcript:  2401
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,19)   caucasian(A,7|G,15)   total(A,16|G,34)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2068):
TGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGG
K
AATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCA
Celera SNP ID:            hCV7440075
SNP Position Transcript:  2625
SNP Source:               Applera
Population(Allele,Count): african american(G,14|T,20)   caucasian(G,22|T,16)   total(G,36|T,36)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Context             (SEQ ID NO:2069):
CGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCCACTGCTCTGCTGCCTGTCCTGGGAAAGTA
K
CTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCT
Celera SNP ID:            hCV7440084
SNP Position Transcript:  2276
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:730, None   



Gene Number:                 14
Celera Gene:                 hCG1640757 - 145000147123920
Celera Transcript:           hCT2303820 - 145000147123937
Public Transcript Accession: NM_013325
Celera Protein:              hCP1809065 - 197000064951706
Public Protein Accession:    NP_037457
Gene Symbol:                 Apg4B
Protein Name:                autophagin-1;AUTL1;DKFZp586D1822;KIAA0943;MGC1353
Celera Genomic Axis:         GA_x5YUV32VWPT(47163330..47199594)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:34):
TTGCTGGCCCGTCGGAGCGACGCCGCTCGGGTCAGTCGGCGGCCGGACTGGGAAGATGGACGCAGCTACTCTGACCTACGACACTCTCCGGTTTGCTGAG
TTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATTTTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTA
GACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGGGGGGACAGGCCCCACCTCGGACACAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGAT
CTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAGRCAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTC
ATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCAAGTCCATAGGCCAGTGGTACGGGCCCAACACTGTCG
CCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTT
GTGCAGGACCAGCRTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAAYGGATTCCCTGCCGGAGCTGAGGTCACCAACAGG
CCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGGCCTACGTGGAGACGCTGAAGCACTGCTTCATGA
TGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAACAGCGCCCACTACTTCATCGGCTACGTTGGTGAGGAGCTCATCTACCTGGACCCCCACACCAC
GCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATCCCGGACGAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCG
TCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCARTGATTGGTGCCAGCAAGTCAAAAAGCTRTCTCTGCTYGGAGGTGCCCTGCCCATGT
TTGAGCTGGTGGAGCWGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGA
CTCAGAAGATGAAGACTTTGAAATCCTGTCCCTTTGAAAATCCTGGGGTCGGGGGTGGCACCTGTGAGAGCCTGGGGCTCCTGGTGCCGCTGCGTTTCAT
CCATCCCGCCCGCTCGCCTGCCGAGGGCTGCGCCCCGTGCTGCCTCCCCCCAGAGGGCCACCCGCTGTGCTCGTGGACTGAGGCTGCGCTGCCCGGGAGG
CCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAGYGTTCTCTC
GACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGT
CAGACACAGACATGAATTTCTKGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACYGCGGCCCCAC
GCCCAAGGAYTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTG
GAGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGGAAACCTGAAGATGGCGTGCACAGGACACAGCGTGG
KCGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCC
CCAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAGYCAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCT
TGCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTTAGGGCCAAAAGGGGAAAACCACTTGAGTCTTGTGGTGTGTGGTGGGCAGACACCAC
AGGGTGGCATCACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTG
CACTCTGCCCCRCTGCTCTGCTGCCTGTCCTGGGAAAGTAKCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCAT
GAGCAGCTACTGCGGCRTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCYRGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCA
CTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATTTCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGG
TGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCRCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGKAATGTGTGGG
ACMCCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCAATTCTTAATG
GCAAATAATAAGTTTCAGTAG

Protein Sequence    (SEQ ID NO:731):
MDAATLTYDTLRFAEFEDFPETSEPVWILGRKYSIFTEKDEILSDVASRLWFTYRKNFPAIGGTGPTSDTGWGCMLRCGQMIFAQALVCRHLGRDWRWTQ
RKRQPDSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTVVMEEIRRLCRTSVPCAGATAFPADSD
RHCNGFPAGAEVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEELIYLDPHTTQPAVEPTDGCFIPDESFH
CQHPPCRMSIAELDPSIAVGFFCKTEDDFNDWCQQVKKLSLLGGALPMFELVEQQPSHLACPDVLNLSLDSSDVERLERFFDSEDEDFEILSL


SNP Information

Context             (SEQ ID NO:2070):
ACCTGGTGGCATTTCCAGAACCTCAGCCCCGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCC
R
CTGCTCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTG
Celera SNP ID:            hCV7440088
SNP Position Transcript:  2312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2071):
GGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGAC
M
CCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCAATTCTTAATGGCA
Celera SNP ID:            hCV27469813
SNP Position Transcript:  2703
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2072):
TCTGCTGCCTGTCCTGGGAAAGTAGCTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGC
R
TTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCCGGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGG
Celera SNP ID:            hCV410264
SNP Position Transcript:  2417
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2073):
TGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGACGGGGGGGGCGGGGCCTCCACCTGTGACAG
Y
CAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCCTCCCATGCCGCTGAGGTGTTAGGTGGTTT
Celera SNP ID:            hCV410265
SNP Position Transcript:  2044
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,17)   caucasian(C,15|T,23)   total(C,28|T,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,3)   total(C,3|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2074):
GAGGAACGAAGGCGAGGTTCCTCCTTGCTTTGGGGAGAAAAGTATTCAGGAAGTGGGTGTGTGGGAAACCTGAAGATGGCGTGCACAGGACACAGCGTGG
K
CGGCCTGGGCAGAAGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCC
Celera SNP ID:            hCV410267
SNP Position Transcript:  1901
SNP Source:               Applera
Population(Allele,Count): african american(G,10|T,16)   caucasian(G,8|T,20)   total(G,18|T,36)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Applera
Population(Allele,Count): african american(G,19|T,19)   caucasian(G,15|T,23)   total(G,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Celera
Population(Allele,Count): no_pop(G,4|T,4)   total(G,4|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2075):
ACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGA
Y
TGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGAGATGAGGTTGGAGGAACGAA
Celera SNP ID:            hCV25638803
SNP Position Transcript:  1710
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36|T,4)   total(C,73|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,20|T,2)   total(C,46|T,2)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None



Context             (SEQ ID NO:2076):
GCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCT
Y
GGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGC
Celera SNP ID:            hCV25638820
SNP Position Transcript:  1081
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,7|T,33)   total(C,10|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:731, 342, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2077):
CCCGGGAGGCCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAG
Y
GTTCTCTCGACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTT
Celera SNP ID:            hCV410269
SNP Position Transcript:  1492
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,14|T,6)   total(C,26|T,12)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,11)   caucasian(C,21|T,15)   total(C,44|T,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;POOLE|_CEPH(C,74|T,114)   total(C,74|T,114)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2078):
CAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAG
R
CAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCA
Celera SNP ID:            hCV25638813
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:731, 103, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:2079):
GCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGAATTAAAGTCCTGTTTGAAGTTGTCAGACACAGACATGAATTTCT
K
GGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACACTGCGGCCCCACGCCCAAGGACTGGGCTGCTCTC
Celera SNP ID:            hCV11536251
SNP Position Transcript:  1622
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(G,19|T,1)   total(G,33|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               Celera
Population(Allele,Count): no_pop(-,4|G,4)   total(G,4|-,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2080):
TTTGAAGTTGTCAGACACAGACATGAATTTCTGGGGCGCTCCCTGAGTCAGAGTCTCAGAAGACCTGTGCAGGCTGGCGTGAGAGGAGCGGCAGCCACAC
Y
GCGGCCCCACGCCCAAGGACTGGGCTGCTCTCGAGGGGGGCGCGCCCACCGCTGTGTCCTCTCTGCCCAGCCTGGCTTACCAAGGGCTACCTCAGTGGGA
Celera SNP ID:            hCV25638807
SNP Position Transcript:  1690
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None



Context             (SEQ ID NO:2081):
AGGGCGGCTGGCTGTCCTGGAGCTGCTGCTGGAGCCTGCCCTCAGAGTGTCCCTTTCCAGTGCTGTGGCATTCTGTGGCAGCTTCCCCAGGTGTGGTGAC
G
GGGGGGGCGGGGCCTCCACCTGTGACAGTCAGGCTTGAGGGTGGACGGCGTGCCTCTCCCAGGAGCCTTCCCCATGTCCTTGCCTTGCTGAGAATTGCCC
Celera SNP ID:            hCV11536252
SNP Position Transcript:  2015
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,3)   total(G,3|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2082):
ACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGC
Y
GGAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATT
Celera SNP ID:            hCV25638808
SNP Position Transcript:  2465
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,18)   total(C,45|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None



Context             (SEQ ID NO:2083):
GCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCT
R
TCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTG
Celera SNP ID:            hCV25638816
SNP Position Transcript:  1072
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:731, 339, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:2084):
TTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGC
W
GCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAGAAGATGAAGAC
Celera SNP ID:            hCV11536245
SNP Position Transcript:  1116
SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,31|T,9)   total(A,65|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:731, 354, (Q,CAG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:731, 354, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:2085):
GAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCA
R
TGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGAC
Celera SNP ID:            hCV25638834
SNP Position Transcript:  1044
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,33|G,1)   total(A,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:731, 330, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:2086):
GAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGC
R
TTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAG
Celera SNP ID:            hCV25638826
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:731, 187, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2087):
ACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAA
Y
GGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGG
Celera SNP ID:            hCV25638827
SNP Position Transcript:  667
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:731, 204, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2088):
CATTGAAGACATAGTGTATTTCCTCGTATCCTTTCTCCCTTGGGTGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCC
R
CGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGGGAATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGG
Celera SNP ID:            hCV7440082
SNP Position Transcript:  2646
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,16|G,22)   total(A,39|G,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;POOLE|_CEPH(G,51|A,137)   total(G,51|A,137)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2089):
CAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCTGCTGCTTGTGTAGGTCGGGGAGCC
R
GAGATCCCCGAGGACGCGCGCCGGACAGTCGGCACTGACCGGCCCACCTGGTAGCAGAGGACACCCCCAGCCCCCCAAGCATTGAAGACATAGTGTATTT
Celera SNP ID:            hCV7440083
SNP Position Transcript:  2466
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,19)   caucasian(A,7|G,15)   total(A,16|G,34)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2090):
TGTAGTTGGGGTGGGGAAGCAGGGAAGGCTGGTGCGATCTCCATTCCTTGGGCTCCGCGTCCGAGTTCATGGTGCGCCGCTGTGCTGGGAGCTGCAGTGG
K
AATGTGTGGGACACCTTGACCAAAGGGGAGCTTTGTCTCGTGTGTTTTGAAAAAGGCTTAATGAAGAGAATGTTGTTCATTCTTAGTAGTATAGTTTGCA
Celera SNP ID:            hCV7440075
SNP Position Transcript:  2690
SNP Source:               Applera
Population(Allele,Count): african american(G,14|T,20)   caucasian(G,22|T,16)   total(G,36|T,36)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Context             (SEQ ID NO:2091):
CGATTCCAGCACCCACCACCGCCTGACCCTGTGTAACCTGCTGTCCCGGGTCCCAGAGTGCACTCTGCCCCACTGCTCTGCTGCCTGTCCTGGGAAAGTA
K
CTTTGCCCCACTAGGAAATGTAAACAGGAGGGCTTGGGGAGCGTGGGCACTTTTCTCATGAGCAGCTACTGCGGCGTTGGCAGGACTCGCTGCTGCTGCT
Celera SNP ID:            hCV7440084
SNP Position Transcript:  2341
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:731, None   



Gene Number:                 14
Celera Gene:                 hCG1640757 - 145000147123920
Celera Transcript:           hCT2303819 - 145000147123954
Public Transcript Accession: NM_013325
Celera Protein:              hCP1809063 - 197000064951704
Public Protein Accession:    NP_037457
Gene Symbol:                 Apg4B
Protein Name:                autophagin-1;AUTL1;DKFZp586D1822;KIAA0943;MGC1353
Celera Genomic Axis:         GA_x5YUV32VWPT(47163330..47194536)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:35):
TTGCTGGCCCGTCGGAGCGACGCCGCTCGGGTCAGTCGGCGGCCGGACTGGGAAGATGGACGCAGCTACTCTGACCTACGACACTCTCCGGTTTGCTGAG
TTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATTTTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTA
GACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGGGGGGACAGGCCCCACCTCGGACACAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGAT
CTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAGRCAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTC
ATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCAAGTCCATAGGCCAGTGGTACGGGCCCAACACTGTCG
CCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTT
GTGCAGGACCAGCRTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAAYGGATTCCCTGCCGGAGCTGAGGTCACCAACAGG
CCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGGCCTACGTGGAGACGCTGAAGCACTGCTTCATGA
TGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAACAGCGCCCACTACTTCATCGGCTACGTTGGTGAGGAGCTCATCTACCTGGACCCCCACACCAC
GCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATCCCGGACGAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCG
TCCATCGCTGTGGTACGTGGCGGCCACCTGAGCACACAGGCATTTGGTGCTGAATGCTGTTTGGGAATGACGAGGAAAACTTTCGGATTTTTGCGTTTTT
TTTTTCAGCATGTTGSG

Protein Sequence    (SEQ ID NO:732):
MDAATLTYDTLRFAEFEDFPETSEPVWILGRKYSIFTEKDEILSDVASRLWFTYRKNFPAIGGTGPTSDTGWGCMLRCGQMIFAQALVCRHLGRDWRWTQ
RKRQPDSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTVVMEEIRRLCRTSVPCAGATAFPADSD
RHCNGFPAGAEVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEELIYLDPHTTQPAVEPTDGCFIPDESFH
CQHPPCRMSIAELDPSIAVVRGGHLSTQAFGAECCLGMTRKTFGFLRFFFQHVG


SNP Information

Context             (SEQ ID NO:2092):
GAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGC
R
TTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAG
Celera SNP ID:            hCV25638826
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:732, 187, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2093):
ACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAA
Y
GGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGG
Celera SNP ID:            hCV25638827
SNP Position Transcript:  667
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:732, 204, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2094):
CGTGGCGGCCACCTGAGCACACAGGCATTTGGTGCTGAATGCTGTTTGGGAATGACGAGGAAAACTTTCGGATTTTTGCGTTTTTTTTTTCAGCATGTTG
S
G
Celera SNP ID:            hCV25638828
SNP Position Transcript:  1116
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,38)   total(C,2|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:732, 354, (A,GCG)   (G,GGG)   



Context             (SEQ ID NO:2095):
CAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAG
R
CAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCA
Celera SNP ID:            hCV25638813
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:732, 103, (R,AGA)   (R,AGG)   



Gene Number:                 14
Celera Gene:                 hCG1640757 - 145000147123920
Celera Transcript:           hCT1953146 - 145000147123985
Public Transcript Accession: NM_013325
Celera Protein:              hCP1765711 - 197000064951708
Public Protein Accession:    NP_037457
Gene Symbol:                 Apg4B
Protein Name:                autophagin-1;AUTL1;DKFZp586D1822;KIAA0943;MGC1353
Celera Genomic Axis:         GA_x5YUV32VWPT(47163330..47198350)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:36):
TTGCTGGCCCGTCGGAGCGACGCCGCTCGGGTCAGTCGGCGGCCGGACTGGGAAGATGGACGCAGCTACTCTGACCTACGACACTCTCCGGTTTGCTGAG
TTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATTTTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTA
GACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGGGGGGACAGGCCCCACCTCGGACACAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGAT
CTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAGRCAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTC
ATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCAAGTCCATAGGCCAGTGGTACGGGCCCAACACTGTCG
CCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTT
GTGCAGGACCAGCRTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAAYGGATTCCCTGCCGGAGCTGAGGTCACCAACAGG
CCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGGCCTACGTGGAGACGCTGAAGCACTGCTTCATGA
TGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAACAGCGCCCACTACTTCATCGGCTACGTTGGTGAGGAGCTCATCTACCTGGACCCCCACACCAC
GCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATCCCGGACGAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCG
TCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCARTGATTGGTGCCAGCAAGTCAAAAAGCTRTCTCTGCTYGGAGGTGCCCTGCCCATGT
TTGAGCTGGTGGAGCWGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCCAGGTGGGGTCCCTCGGAGG
TACGATCTGTGCCCTTGCTTCYCCAGTCCTGGCCCCCTTGGTTTTGACCATTAAGGTGTGTGTGAGCCTGAGCCGTGAGCACTTGGCAGTGGTTCGCCTG
TGAGACCAGGTATGGAGTGGAGCGTCCCCTCCTCCAAGCTTGCGCCCAGCAGCCCAGGACCCACCTCGTCTTCCCCACCAGCGCTGCCTGCCSGGGCGCT
GTGGAGCTGGGCGTGCTACCATGGAGTCCTCAGGGGTCTGGAGCAGACAGAACATGCAGGCTCTGTGGTGACGCAGTCCTGGGTGGGGGACTGGTTCACT
TGGGCACCACTGGCCATGGGTGGCGTAGACCCCTCGGACCATGGCCAGCGTGCCGCAGGAGCCGGCCTGGGCTCGTGCAGTGAAGTGAGTGGCCGTGAGC
GCGTCCTCCTCATCYCTGTCTCCCTGTGGRAAACTCTACAAACAAGGCAATGGCAATGGAACCACTCCTGATGACCACGAGGGTCAGACGCGGGACAGAG
GCCCCTCAGGCCTGAGATTGTGCCGGCCGCCCCCTGCCCTCCTCACCCTGCCCTGCTCCTCTTCTCTGCTCCCTCCCCCCATATTCGCAGGTCTGCACAA
CCCCCGGACCTGTTCACACCCGCATGGGGACAGCTGTCTGTGGGCTGCAGAGCAGGCACTGCTCAGTCTGCCCCACGCCAAGGGCCCTTRACTCACACCC
AGGTGGCCCACCCAAGATGCCTGATGCGCTATGTCCTGTTCCTTCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAGAAGATGAAGA
CTTTGAAATCCTGTCCCTTTGAAAATCCTGGGGTCGGGGGTGGCACCTGTGAGAGCCTGGGGCTCCTGGTGCCGCTGCGTTTCATCCATCCCGCCCGCTC
GCCTGCCGAGGGCTGCGCCCCGTGCTGCCTCCCCCCAGAGGGCCACCCGCTGTGCTCGTGGACTGAGGCTGCGCTGCCCGGGAGGCCTTACTGCTTGGTG
TCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAGYGTTCTCTCGACACTGCCAGCCCC
GTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGA

Protein Sequence    (SEQ ID NO:733):
MDAATLTYDTLRFAEFEDFPETSEPVWILGRKYSIFTEKDEILSDVASRLWFTYRKNFPAIGGTGPTSDTGWGCMLRCGQMIFAQALVCRHLGRDWRWTQ
RKRQPDSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTVVMEEIRRLCRTSVPCAGATAFPADSD
RHCNGFPAGAEVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEELIYLDPHTTQPAVEPTDGCFIPDESFH
CQHPPCRMSIAELDPSIAVGFFCKTEDDFNDWCQQVKKLSLLGGALPMFELVEQQPSHLACPDVLNLSLGESCQVQVGSLGGTICALASPVLAPLVLTIK
VCVSLSREHLAVVRL


SNP Information

Context             (SEQ ID NO:2096):
GCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCT
Y
GGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCC
Celera SNP ID:            hCV25638820
SNP Position Transcript:  1081
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,7|T,33)   total(C,10|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:733, 342, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2097):
CCCGGGAGGCCTTACTGCTTGGTGTCAGACTGCCCAGCTCAGAGTGCCCGTCAGGGCCTGTGCATCCGCACGCGGAGCCGTCTGTTAGGAGCTTCCAGAG
Y
GTTCTCTCGACACTGCCAGCCCCGTGTTAGCACCTGGGCCTCAGTCCCACTTGCTCCCAGGCGCCGGTTCTGTGGTTGGTTTGGA
Celera SNP ID:            hCV410269
SNP Position Transcript:  2277
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,14|T,6)   total(C,26|T,12)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,11)   caucasian(C,21|T,15)   total(C,44|T,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;POOLE|_CEPH(C,74|T,114)   total(C,74|T,114)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None   



Context             (SEQ ID NO:2098):
CAGGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAG
R
CAGCCAGACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCA
Celera SNP ID:            hCV25638813
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:733, 103, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:2099):
CTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCCAGGTGGGGTCCCTCGGAGGTACGATCTGTGCCCTTGCTTC
Y
CCAGTCCTGGCCCCCTTGGTTTTGACCATTAAGGTGTGTGTGAGCCTGAGCCGTGAGCACTTGGCAGTGGTTCGCCTGTGAGACCAGGTATGGAGTGGAG
Celera SNP ID:            hCV25638821
SNP Position Transcript:  1222
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:733, 389, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:2100):
GCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCT
R
TCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCT
Celera SNP ID:            hCV25638816
SNP Position Transcript:  1072
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:733, 339, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:2101):
TTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGC
W
GCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGGTGAGAGCTGCCAAGTCCAGGTGGGGTCCCTCGGAGGTACGATCTGTGCCCTT
Celera SNP ID:            hCV11536245
SNP Position Transcript:  1116
SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,31|T,9)   total(A,65|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:733, 354, (Q,CAG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:733, 354, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:2102):
TTCGCCTGTGAGACCAGGTATGGAGTGGAGCGTCCCCTCCTCCAAGCTTGCGCCCAGCAGCCCAGGACCCACCTCGTCTTCCCCACCAGCGCTGCCTGCC
S
GGGCGCTGTGGAGCTGGGCGTGCTACCATGGAGTCCTCAGGGGTCTGGAGCAGACAGAACATGCAGGCTCTGTGGTGACGCAGTCCTGGGTGGGGGACTG
Celera SNP ID:            hCV11536246
SNP Position Transcript:  1393
SNP Source:               Applera
Population(Allele,Count): african american(C,20|G,12)   caucasian(C,22|G,16)   total(C,42|G,28)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,4)      total(G,2|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None   



Context             (SEQ ID NO:2103):
GAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCGTCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCA
R
TGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAGCTGGTGGAGCAGCAGCCTTCACATCTGGCCTGCCCCGAC
Celera SNP ID:            hCV25638834
SNP Position Transcript:  1044
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,33|G,1)   total(A,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:733, 330, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:2104):
GAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGC
R
TTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAG
Celera SNP ID:            hCV25638826
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:733, 187, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2105):
ACAACACTGTTGTGATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAA
Y
GGATTCCCTGCCGGAGCTGAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGG
Celera SNP ID:            hCV25638827
SNP Position Transcript:  667
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:733, 204, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2106):
GGTCTGCACAACCCCCGGACCTGTTCACACCCGCATGGGGACAGCTGTCTGTGGGCTGCAGAGCAGGCACTGCTCAGTCTGCCCCACGCCAAGGGCCCTT
R
ACTCACACCCAGGTGGCCCACCCAAGATGCCTGATGCGCTATGTCCTGTTCCTTCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAG
Celera SNP ID:            hCV410270
SNP Position Transcript:  1890
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,18)   caucasian(A,3|G,35)   total(A,5|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,3)   total(G,3|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None   



Context             (SEQ ID NO:2107):
CCCCTCGGACCATGGCCAGCGTGCCGCAGGAGCCGGCCTGGGCTCGTGCAGTGAAGTGAGTGGCCGTGAGCGCGTCCTCCTCATCTCTGTCTCCCTGTGG
R
AAACTCTACAAACAAGGCAATGGCAATGGAACCACTCCTGATGACCACGAGGGTCAGACGCGGGACAGAGGCCCCTCAGGCCTGAGATTGTGCCGGCCGC
Celera SNP ID:            hCV410271
SNP Position Transcript:  1630
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,3)   total(G,3|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None   



Context             (SEQ ID NO:2108):
CATGGGTGGCGTAGACCCCTCGGACCATGGCCAGCGTGCCGCAGGAGCCGGCCTGGGCTCGTGCAGTGAAGTGAGTGGCCGTGAGCGCGTCCTCCTCATC
Y
CTGTCTCCCTGTGGGAAACTCTACAAACAAGGCAATGGCAATGGAACCACTCCTGATGACCACGAGGGTCAGACGCGGGACAGAGGCCCCTCAGGCCTGA
Celera SNP ID:            hCV410272
SNP Position Transcript:  1615
SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,3)   total(C,2|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:733, None   



Gene Number:                 15
Celera Gene:                 hCG1641163 - 30000036628323
Celera Transcript:           hCT1641290 - 30000036628337
Public Transcript Accession: 
Celera Protein:              hCP1607950 - 30000036628338
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(4123521..4125715)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:37):
GCCAGGAACACTAGCCGTTCACGTGTTCGGTCCTCCTTAGCTGACTCGCCGCCCTCGCTGCCGCACCATGGACGCCCCGAGGCACGTGGTCAACTTCGGG
CCTGGTCCCGCCAAGCTGYCTCACTCAGTGTTGTTAGAGATAAAAAAGGAATTATTAGACTACAAAGGAGTTGGCATTAGTGTTCTTGAAATGAGTCACA
GGCCATCAGATTTTGCCAAGATTATTAACGATACAGAGAATCTTGTGCGGGAATTGCYAGCCRTTCCAGACAGCTRTAAGGTGATTTTTGTGCAAGGAAG
TGGRTCTGGCCAGTTCGGTGCTGTCCCCTTAAACCTGATTGGCTTGAAAGCAGGAAGATGTGCGGACTATGTGGTGACAGGGACTTGGTCAGCTAAGGCC
GCAGAAGAAGCCAAGAAGTTTGGGACTATAAATATCATTCACCCTAAACTTGRGAGTTATACAAAAATTCCAGATCCAAGCACCTGGAACCTCAACCCGG
ATGCCTCCTATGTGTATTATTGCGCAAATGAGGTGGTGCATGGTGTGGAGTTTGACTTTATACCCTATGTCAAGGKAGCAGTACTGGTTTGTGACATGTC
CTCAAACTTCCTGTCCAAGCCAGTGGATGTCCAAGTTTGGTGTGATTTTTGCTGGTGCCCAGACGAATGTTGGCTTTGCTGGGGTCACTGTGGTGATTGT
CTGTGATGACCTGCTGGGGTTTGCCCTCTGAGAGTGCCCCTTGGTCCTAGAATACGAGGTACAGGCTGGAAACAGCTCCTTGTACAACACGCCTCCATGT
TTCAGCATCTATGTCATGGGCTTGGTCCTGGAGTGGATTAAAAACAATGGAGGTGCCGCGGCCATGGAGAAGCTTAGCTCCATCAAATCTCAAATGATTT
ATGAGATTATTGATAATTCTCAAGGATTCTACGTATGTCCGGTGGAGCCCCAAAATAGAAGCAAGATGAATATTCCATTCTGCATTTGCAATGCCAAAGG
AGATGATGCTTTAGAAAAAAGACTTTTTGATAAAGCTCTTGAACTTAATATGTTGCCCTTGAAAGGGTATAGGTCTGTGGGAGGCATCCGGGCCTCTCTG
TATAATGCTGTCACTATTGAAGATGTTCAGAAGCTGGCCGCCTTCATGAAAAATTTTTTGGAGATGCATCAGCTATGAACACATCCTAACCAGGATATAC
TCTGTTCTTGAACAACATACAAAGTTTAAAGTAACTTGGGTATGGCTACAAAAAGTTAACAAACACAGTATTTTCCTCAAATGAACATGTTTATTGTAGA
TTCTTCTTTTTTGAAAGAACAACAGCAAAACATCTACAGCTCTGTAAAGCTGGTGGGAACTAATGTTCACCTTAATTCTGACTTGAACTGGAAGCATTTT
AAGAAATCTTCTCATTGCTTTTCTAACAAATTCCCGCTTGTTTAGCCTTTGCTGCTACTTTTTCTAGTTAGATTTCCAACTTGCCTGTGGACTTCATACT
GCAAGTTGCAATTAATTATTTCTAGAGTCATGGGAACACACAGCATAGAGGGTAGGTGGGGCCCTCTAGGTGCTGAATCTAAACATCTGTGGGGTCTCCT
GTGTTCAGAGGCTGTTGATTCAAGGTCAACATTGACCACTGGAGGAGTGGTTTAAGAGTACCAGGCAAAGGGCAAACTGAAGATTGATCATTATACTGTT
ATTACAAGAGAAGTGTCATACTTTATATATGTTTATATTAGCAAGGTCTGTTTTTAATACCATATACTTTATATTTCTATACTTTTATATTTCTAATAAT
ACGGTTATCATTGATACATGTAGACACTTTTAGAATTTATTAAATCCTTGACCTTGTGCATTATAGCATTCCATTAGCAACAGTTGCACCCCCTCCCCAG
TCTTCCTCTTCCTCTTTTTAAGCTGTTTTATGAAAAACATCTCGAAGTTCTTGATTCATTTTTACCGTTCTTTCCATAGGTAGAAGAGAAAGTTGATTGG
TTGGTTGTTTTTCAATTATGCCATTAAACTAAACATTTCTGTTAAATTACCTTATCCTTTGTTCTCCTGACTGTTTTCTTTGTAATGTTTGACGATGAGA
GTGATACTTTGCTCAAAAGTCTTTCCCCTATTGTTTATCTATTGTCAGTATTTTATGTTGAATATGTGAAGAACATTAAAGTCCTAAAACATCT

Protein Sequence    (SEQ ID NO:734):
LTRRPRCRTMDAPRHVVNFGPGPAKLPHSVLLEIKKELLDYKGVGISVLEMSHRPSDFAKIINDTENLVRELPAVPDSYKVIFVQGSGSGQFGAVPLNLI
GLKAGRCADYVVTGTWSAKAAEEAKKFGTINIIHPKLGSYTKIPDPSTWNLNPDASYVYYCANEVVHGVEFDFIPYVKGAVLVCDMSSNFLSKPVDVQVW
CDFCWCPDECWLCWGHCGDCL


SNP Information

Context             (SEQ ID NO:2109):
CAAAGGAGTTGGCATTAGTGTTCTTGAAATGAGTCACAGGCCATCAGATTTTGCCAAGATTATTAACGATACAGAGAATCTTGTGCGGGAATTGCCAGCC
R
TTCCAGACAGCTATAAGGTGATTTTTGTGCAAGGAAGTGGGTCTGGCCAGTTCGGTGCTGTCCCCTTAAACCTGATTGGCTTGAAAGCAGGAAGATGTGC
Celera SNP ID:            hCV25951671
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,9|G,27)   total(A,10|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 66, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2110):
TCACGTGTTCGGTCCTCCTTAGCTGACTCGCCGCCCTCGCTGCCGCACCATGGACGCCCCGAGGCACGTGGTCAACTTCGGGCCTGGTCCCGCCAAGCTG
Y
CTCACTCAGTGTTGTTAGAGATAAAAAAGGAATTATTAGACTACAAAGGAGTTGGCATTAGTGTTCTTGAAATGAGTCACAGGCCATCAGATTTTGCCAA
Celera SNP ID:            hCV25953292
SNP Position Transcript:  119
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,34)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 18, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 18, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:2111):
CATCAGATTTTGCCAAGATTATTAACGATACAGAGAATCTTGTGCGGGAATTGCCAGCCGTTCCAGACAGCTATAAGGTGATTTTTGTGCAAGGAAGTGG
R
TCTGGCCAGTTCGGTGCTGTCCCCTTAAACCTGATTGGCTTGAAAGCAGGAAGATGTGCGGACTATGTGGTGACAGGGACTTGGTCAGCTAAGGCCGCAG
Celera SNP ID:            hCV25952234
SNP Position Transcript:  304
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,16)   total(A,1|G,45)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:734, 79, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:734, 79, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:2112):
GGAAGATGTGCGGACTATGTGGTGACAGGGACTTGGTCAGCTAAGGCCGCAGAAGAAGCCAAGAAGTTTGGGACTATAAATATCATTCACCCTAAACTTG
R
GAGTTATACAAAAATTCCAGATCCAAGCACCTGGAACCTCAACCCGGATGCCTCCTATGTGTATTATTGCGCAAATGAGGTGGTGCATGGTGTGGAGTTT
Celera SNP ID:            hCV25951926
SNP Position Transcript:  453
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,12|G,26)   total(A,16|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 129, (E,GAG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 129, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:2113):
CCAAGCACCTGGAACCTCAACCCGGATGCCTCCTATGTGTATTATTGCGCAAATGAGGTGGTGCATGGTGTGGAGTTTGACTTTATACCCTATGTCAAGG
K
AGCAGTACTGGTTTGTGACATGTCCTCAAACTTCCTGTCCAAGCCAGTGGATGTCCAAGTTTGGTGTGATTTTTGCTGGTGCCCAGACGAATGTTGGCTT
Celera SNP ID:            hCV25953562
SNP Position Transcript:  576
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,38)   total(G,73|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 170, (G,GGA)   (V,GTA)   



Context             (SEQ ID NO:2114):
ATTAGTGTTCTTGAAATGAGTCACAGGCCATCAGATTTTGCCAAGATTATTAACGATACAGAGAATCTTGTGCGGGAATTGCCAGCCGTTCCAGACAGCT
R
TAAGGTGATTTTTGTGCAAGGAAGTGGGTCTGGCCAGTTCGGTGCTGTCCCCTTAAACCTGATTGGCTTGAAAGCAGGAAGATGTGCGGACTATGTGGTG
Celera SNP ID:            hCV25951709
SNP Position Transcript:  276
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,38)   total(A,69|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 70, (Y,TAT)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,30)   total(A,63|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 70, (Y,TAT)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 70, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:2115):
GACTACAAAGGAGTTGGCATTAGTGTTCTTGAAATGAGTCACAGGCCATCAGATTTTGCCAAGATTATTAACGATACAGAGAATCTTGTGCGGGAATTGC
Y
AGCCGTTCCAGACAGCTATAAGGTGATTTTTGTGCAAGGAAGTGGGTCTGGCCAGTTCGGTGCTGTCCCCTTAAACCTGATTGGCTTGAAAGCAGGAAGA
Celera SNP ID:            hCV1756199
SNP Position Transcript:  258
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,27)   caucasian(C,13|T,25)   total(C,24|T,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 64, (P,CCA)   (L,CTA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:734, 64, (P,CCA)   (L,CTA)      



Gene Number:                 16
Celera Gene:                 hCG1641222 - 209000105725204
Celera Transcript:           hCT1641349 - 209000105725206
Public Transcript Accession: NM_175739
Celera Protein:              hCP1607077 - 197000069390947
Public Protein Accession:    NP_783866
Gene Symbol:                 SERPINA11
Protein Name:                serine proteinase inhibitor A11;GCET1
Celera Genomic Axis:         GA_x5YUV32W0QP(41719236..41751158)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:38):
ATGGAGGCCAGTACCATCGATGACTCRGGACAYTTACTAGCCAACTCCCCGACTTCAGACATATTTTGTTCCAAAATGGCATCTTACCTTTATGGAGTAC
TCTTTGCTGTTGGCCTCTGTGCTCCAATCTACTGTGTGTCCCCGGYCAATGCCCCCAGTGCATACCCCCGCCCTTCCTCCACAAAGAGCAYCCCTGCCTC
ACAGGTGTATTCCCTCAACACCGACTTTGCCTTCCGCCTATACCGCAGGCTGGTTTTGGAGACCCCGRGTCAGAACATCTTCTTCTCCCCTGTGAGTGTC
TCCACTTCCCTGGCCATGCTCTCCCTTGGGGCCCACTCAGTCACCAAGACCSAGATTCTCCAGGGCCTGGGCTTCAACCTCACACACACACCAGAGTCTG
CCATCCACCAGGGCTTCCAGCACCTGGTTCACTCACTGACTGTTCYCAGCAAAGACCTGACCTTGAAGATGGGAAGTGCCCTCTTCGTCMAGAAGGAGCT
GCAGCTGCAGGCAAATTTCTTGGGCAATGTCAAGAGGCTGTATGAAGCAGAAGTCTTTTCTACAGATTTCTCCAACCCCTCCATTGCCCAGGCRAGGATC
AACAGCCATGTGAAAAAGAAGACCCAAGGGAAGGTTGTAGACATAATCCAAGGCCTTGACCTTCTGACGGCCATGGTTCTGGTGAAYCACATTTTCTTTA
AAGCCAAGTGGGARAAGCCCTTTCACCYTGAATATACAAGAAAGAACTTCCCATTCCTGGTGGGCGAGCAGGTCACTGTGCAWGTCCCCATGATGCACCA
GAAAGAGCAGTTCGCTTTTGGGGTGGATACAGAGCTGAACTGCTTTGTGCTGCAGATGGATTACAAGGGAGATGCCGTGGCCTTCTTTGTCCTCCCTAGC
AAGGGCAAGATGAGGCAACTGGAACAGGCCTTGTCAGCCAGAACACTGAKAAAGTGGAGCCACTCACTCCAGAAAAGGTGGATAGAGGTGTTCATCCCCA
GATTTTCCATTTCTGCCTCCTACAATCTGGAAACCATCCTCCCGAAGATGGGCATCCAAAATGYCTTTGACAAAAATGCTGATTTTTCTGGAATTGCAAA
GAGAGACTCCCTGCAGGTTTCTAAAGCAACCCACAAGGCTGTGCTGGATGTCAGTGAAGAGGGCACTGAGGCCACAGCAGCTACCACCACCAAGTTCATA
GTCCGATCGAAGGATGGYCCCTCTTACTTCACTGTCTCCTTCAATAGGACCTTCCTGATGATGATTACAAATAAAGCCACAGACGTTCCCAGAATTGACC
TGACAAATATTGACCAGGTTGCTGTSATCTTCAAACACCATTTTCCTGTGGGTAGAGGTGATGCAGTGCTGAAGACCTGGGCCCCTGCTCAGTGCCTTTG
CTCTAGAATGGGTCCAGCTTGGCTTTGGCTACTGGGAACAGGGATCCTGGCCTCTGTCCACTGTCAGCCCCTTCTTGCCCATGGAGATAAAAGTCTGCAG
GGGCCTCAACCCCCCAGGCATCAGCTCTCAGAGCCAGCCCCCGCCTACCACAGAATCACACCCACCATTACCAATTTTGCTTTGCGTTTGTATAAAGAGC
TGGCAGCAGACGCCCCCGGAAACATCTTCTTCTCGCCAGTGAGCATCTCCACCACCCTGGCCCTGCTCTCTCTTGGGGCCCAAGCTAACACCTCAGCTCT
GATCCTGGAGGGCCTGGGATTCAACCTCACAGAAACCCCTGAAGCCGACATCCACCAGGGCTTCCGGAGCCTCCTCCACACCCTKGCCCTGCCCAGCCCC
AAACTCGAACTAAAAGTAGGAAACTCCCTGTTCCTAGACAAGCGACTAAAGYCTCGGCAGCACTATTTGGACAGCATCAAGGAGCTTTATGGAGCTTTTG
CTTTTTCTGCCAACTTCACAGATTCTGTTACAACTGGGAGGCAGATTAATGACTATTTGAGAAGGCAAACATACGGGCAAGTCGTGGACTGCCTCCCGGA
GTTCAGCCAGGACACGTTCATGGTTCTTGCCAATTACATCTTCTTCAAAGCCAAGTGGAAGCACCCTTTCAGTCGCTACCAGACCCAGAAGCAGGMAAGT
TTCTTTGTGGATGAGAGGACTTCTCTCCAGGTCCCCATGATGCACCAAAAGGAAATGCACAGATTCCTCTATGACCAGGATTTGGCTTGCACCGTCCTCC
AGATAGAATACAGAGGAAATGCCTTGGCGCTGCTGGTCCTCCCTGACCCGGGGAAAATGAAGCAGGTGGAGGCTGCTCTGCAGCCACAGACCCTGAGAAA
ATGGGGCCAATTGCTCCTGCCCAGTCTGTTGGATTTGCACTTGCCAAGGTTTTCAATTTCTGGAACATATAACCTGGAAGACATACTTCCCCAAATTGGT
CTCACCAACATACTCAACTTAGAAGCTGACTTCTCAGGAGTCACTGGGCAGCTCAACAAAACCATCTCCAAGGTGTCACACAAGGCGATGGTGGACATGA
GTGAGAAGGGGACCGAGGCCGGGGCTGCTTCAGGCCTCCTCTCCCAGCCCCCATCTCTGAACACCATGTCAGACCCACATGCCCACTTCAACAGGCCTTT
CCTCTTGCTCCTTTGGGAGGTCACCACCCAGAGCTTACTCTTCCTGGGAAAAGTTGTCAACCCAGTTGCAGGGTAACCATGGTGGGAGGCCAGGAGTTAT
CTTATCTCATCCTGGACCAAACAGATAGGCCAGAACCAGCCTGCATCCTGGGGCTGCTATGTGGTTCAGTTAATCAGTGTGCCAAGATTCTAATAAAGTT
GACCTTGGGTTCTGTG

Protein Sequence    (SEQ ID NO:735):
MEASTIDDSGHLLANSPTSDIFCSKMASYLYGVLFAVGLCAPIYCVSPANAPSAYPRPSSTKSTPASQVYSLNTDFAFRLYRRLVLETPSQNIFFSPVSV
STSLAMLSLGAHSVTKTQILQGLGFNLTHTPESAIHQGFQHLVHSLTVPSKDLTLKMGSALFVKKELQLQANFLGNVKRLYEAEVFSTDFSNPSIAQARI
NSHVKKKTQGKVVDIIQGLDLLTAMVLVNHIFFKAKWEKPFHPEYTRKNFPFLVGEQVTVHVPMMHQKEQFAFGVDTELNCFVLQMDYKGDAVAFFVLPS
KGKMRQLEQALSARTLRKWSHSLQKRWIEVFIPRFSISASYNLETILPKMGIQNAFDKNADFSGIAKRDSLQVSKATHKAVLDVSEEGTEATAATTTKFI
VRSKDGPSYFTVSFNRTFLMMITNKATDVPRIDLTNIDQVAVIFKHHFPVGRGDAVLKTWAPAQCLCSRMGPAWLWLLGTGILASVHCQPLLAHGDKSLQ
GPQPPRHQLSEPAPAYHRITPTITNFALRLYKELAADAPGNIFFSPVSISTTLALLSLGAQANTSALILEGLGFNLTETPEADIHQGFRSLLHTLALPSP
KLELKVGNSLFLDKRLKPRQHYLDSIKELYGAFAFSANFTDSVTTGRQINDYLRRQTYGQVVDCLPEFSQDTFMVLANYIFFKAKWKHPFSRYQTQKQAS
FFVDERTSLQVPMMHQKEMHRFLYDQDLACTVLQIEYRGNALALLVLPDPGKMKQVEAALQPQTLRKWGQLLLPSLLDLHLPRFSISGTYNLEDILPQIG
LTNILNLEADFSGVTGQLNKTISKVSHKAMVDMSEKGTEAGAASGLLSQPPSLNTMSDPHAHFNRPFLLLLWEVTTQSLLFLGKVVNPVAG


SNP Information

Context             (SEQ ID NO:2116):
CTAACACCTCAGCTCTGATCCTGGAGGGCCTGGGATTCAACCTCACAGAAACCCCTGAAGCCGACATCCACCAGGGCTTCCGGAGCCTCCTCCACACCCT
K
GCCCTGCCCAGCCCCAAACTCGAACTAAAAGTAGGAAACTCCCTGTTCCTAGACAAGCGACTAAAGCCTCGGCAGCACTATTTGGACAGCATCAAGGAGC
Celera SNP ID:            hCV2786278
SNP Position Transcript:  1785
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,8)   total(G,1|T,8) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 595, (L,CTG)   (L,CTT)      



Context             (SEQ ID NO:2117):
GGGAAGGTTGTAGACATAATCCAAGGCCTTGACCTTCTGACGGCCATGGTTCTGGTGAACCACATTTTCTTTAAAGCCAAGTGGGAAAAGCCCTTTCACC
Y
TGAATATACAAGAAAGAACTTCCCATTCCTGGTGGGCGAGCAGGTCACTGTGCATGTCCCCATGATGCACCAGAAAGAGCAGTTCGCTTTTGGGGTGGAT
Celera SNP ID:            hCV25924894
SNP Position Transcript:  728
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,12|T,4)   total(C,40|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 243, (P,CCT)   (L,CTT)   



Context             (SEQ ID NO:2118):
CCACCAGGGCTTCCGGAGCCTCCTCCACACCCTTGCCCTGCCCAGCCCCAAACTCGAACTAAAAGTAGGAAACTCCCTGTTCCTAGACAAGCGACTAAAG
Y
CTCGGCAGCACTATTTGGACAGCATCAAGGAGCTTTATGGAGCTTTTGCTTTTTCTGCCAACTTCACAGATTCTGTTACAACTGGGAGGCAGATTAATGA
Celera SNP ID:            hCV25930736
SNP Position Transcript:  1852
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,38|T,2)   total(C,70|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 618, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:2119):
CTGCAGATGGATTACAAGGGAGATGCCGTGGCCTTCTTTGTCCTCCCTAGCAAGGGCAAGATGAGGCAACTGGAACAGGCCTTGTCAGCCAGAACACTGA
K
AAAGTGGAGCCACTCACTCCAGAAAAGGTGGATAGAGGTGTTCATCCCCAGATTTTCCATTTCTGCCTCCTACAATCTGGAAACCATCCTCCCGAAGATG
Celera SNP ID:            hCV25928952
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(G,28|T,8)   caucasian(G,15|T,19)   total(G,43|T,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 317, (R,AGA)   (I,ATA)   



Context             (SEQ ID NO:2120):
ACTTCACTGTCTCCTTCAATAGGACCTTCCTGATGATGATTACAAATAAAGCCACAGACGTTCCCAGAATTGACCTGACAAATATTGACCAGGTTGCTGT
S
ATCTTCAAACACCATTTTCCTGTGGGTAGAGGTGATGCAGTGCTGAAGACCTGGGCCCCTGCTCAGTGCCTTTGCTCTAGAATGGGTCCAGCTTGGCTTT
Celera SNP ID:            hCV11665461
SNP Position Transcript:  1326
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 442, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:2121):
AGGAGCTGCAGCTGCAGGCAAATTTCTTGGGCAATGTCAAGAGGCTGTATGAAGCAGAAGTCTTTTCTACAGATTTCTCCAACCCCTCCATTGCCCAGGC
R
AGGATCAACAGCCATGTGAAAAAGAAGACCCAAGGGAAGGTTGTAGACATAATCCAAGGCCTTGACCTTCTGACGGCCATGGTTCTGGTGAACCACATTT
Celera SNP ID:            hCV25928858
SNP Position Transcript:  594
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 198, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:2122):
CCGCCCTTCCTCCACAAAGAGCACCCCTGCCTCACAGGTGTATTCCCTCAACACCGACTTTGCCTTCCGCCTATACCGCAGGCTGGTTTTGGAGACCCCG
R
GTCAGAACATCTTCTTCTCCCCTGTGAGTGTCTCCACTTCCCTGGCCATGCTCTCCCTTGGGGCCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCT
Celera SNP ID:            hCV25929790
SNP Position Transcript:  268
SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,6)   caucasian(A,36)   total(A,66|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 90, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:2123):
TGAACCACATTTTCTTTAAAGCCAAGTGGGAAAAGCCCTTTCACCCTGAATATACAAGAAAGAACTTCCCATTCCTGGTGGGCGAGCAGGTCACTGTGCA
W
GTCCCCATGATGCACCAGAAAGAGCAGTTCGCTTTTGGGGTGGATACAGAGCTGAACTGCTTTGTGCTGCAGATGGATTACAAGGGAGATGCCGTGGCCT
Celera SNP ID:            hCV25924367
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,26)   caucasian(A,2|T,10)   total(A,6|T,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 261, (Q,CAA)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,28)   caucasian(A,2|T,10)   total(A,6|T,38)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 261, (Q,CAA)   (H,CAT)   



Context             (SEQ ID NO:2124):
ATGGAGGCCAGTACCATCGATGACTCAGGACA
Y
TTACTAGCCAACTCCCCGACTTCAGACATATTTTGTTCCAAAATGGCATCTTACCTTTATGGAGTACTCTTTGCTGTTGGCCTCTGTGCTCCAATCTACT
Celera SNP ID:            hCV29386728
SNP Position Transcript:  33
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 11, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2125):
TCCCCGACTTCAGACATATTTTGTTCCAAAATGGCATCTTACCTTTATGGAGTACTCTTTGCTGTTGGCCTCTGTGCTCCAATCTACTGTGTGTCCCCGG
Y
CAATGCCCCCAGTGCATACCCCCGCCCTTCCTCCACAAAGAGCACCCCTGCCTCACAGGTGTATTCCCTCAACACCGACTTTGCCTTCCGCCTATACCGC
Celera SNP ID:            hCV2786232
SNP Position Transcript:  146
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,30|T,2)   total(C,62|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 49, (A,GCC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 49, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:2126):
TTTCTAAAGCAACCCACAAGGCTGTGCTGGATGTCAGTGAAGAGGGCACTGAGGCCACAGCAGCTACCACCACCAAGTTCATAGTCCGATCGAAGGATGG
Y
CCCTCTTACTTCACTGTCTCCTTCAATAGGACCTTCCTGATGATGATTACAAATAAAGCCACAGACGTTCCCAGAATTGACCTGACAAATATTGACCAGG
Celera SNP ID:            hCV2786240
SNP Position Transcript:  1218
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,7|T,33)   total(C,29|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 406, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 406, (G,GGC)   (G,GGT)      406, (G,GGT)   (G,GGC)      



Context             (SEQ ID NO:2127):
ATGGAGGCCAGTACCATCGATGACTC
R
GGACATTTACTAGCCAACTCCCCGACTTCAGACATATTTTGTTCCAAAATGGCATCTTACCTTTATGGAGTACTCTTTGCTGTTGGCCTCTGTGCTCCAA
Celera SNP ID:            hCV29386729
SNP Position Transcript:  27
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 9, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2128):
TCACTCCAGAAAAGGTGGATAGAGGTGTTCATCCCCAGATTTTCCATTTCTGCCTCCTACAATCTGGAAACCATCCTCCCGAAGATGGGCATCCAAAATG
Y
CTTTGACAAAAATGCTGATTTTTCTGGAATTGCAAAGAGAGACTCCCTGCAGGTTTCTAAAGCAACCCACAAGGCTGTGCTGGATGTCAGTGAAGAGGGC
Celera SNP ID:            hCV25925481
SNP Position Transcript:  1064
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,18)   caucasian(C,33|T,7)   total(C,51|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 355, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:2129):
GGTTTTGGAGACCCCGAGTCAGAACATCTTCTTCTCCCCTGTGAGTGTCTCCACTTCCCTGGCCATGCTCTCCCTTGGGGCCCACTCAGTCACCAAGACC
S
AGATTCTCCAGGGCCTGGGCTTCAACCTCACACACACACCAGAGTCTGCCATCCACCAGGGCTTCCAGCACCTGGTTCACTCACTGACTGTTCCCAGCAA
Celera SNP ID:            hCV2786233
SNP Position Transcript:  352
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,3)   caucasian(C,22|G,4)   total(C,47|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 118, (Q,CAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,26|G,6)   total(C,61|G,9)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 118, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2130):
CCCAGGCGAGGATCAACAGCCATGTGAAAAAGAAGACCCAAGGGAAGGTTGTAGACATAATCCAAGGCCTTGACCTTCTGACGGCCATGGTTCTGGTGAA
Y
CACATTTTCTTTAAAGCCAAGTGGGAAAAGCCCTTTCACCCTGAATATACAAGAAAGAACTTCCCATTCCTGGTGGGCGAGCAGGTCACTGTGCATGTCC
Celera SNP ID:            hCV2786234
SNP Position Transcript:  687
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,28|T,8)   total(C,58|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 229, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2131):
AAAAGAAGACCCAAGGGAAGGTTGTAGACATAATCCAAGGCCTTGACCTTCTGACGGCCATGGTTCTGGTGAACCACATTTTCTTTAAAGCCAAGTGGGA
R
AAGCCCTTTCACCCTGAATATACAAGAAAGAACTTCCCATTCCTGGTGGGCGAGCAGGTCACTGTGCATGTCCCCATGATGCACCAGAAAGAGCAGTTCG
Celera SNP ID:            hCV2786235
SNP Position Transcript:  714
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,27)   caucasian(A,15|G,21)   total(A,24|G,48)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:735, 238, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2132):
TATGGAGTACTCTTTGCTGTTGGCCTCTGTGCTCCAATCTACTGTGTGTCCCCGGCCAATGCCCCCAGTGCATACCCCCGCCCTTCCTCCACAAAGAGCA
Y
CCCTGCCTCACAGGTGTATTCCCTCAACACCGACTTTGCCTTCCGCCTATACCGCAGGCTGGTTTTGGAGACCCCGAGTCAGAACATCTTCTTCTCCCCT
Celera SNP ID:            hCV25929889
SNP Position Transcript:  191
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,32)   total(C,65|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 64, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:2133):
AAGACCCAGATTCTCCAGGGCCTGGGCTTCAACCTCACACACACACCAGAGTCTGCCATCCACCAGGGCTTCCAGCACCTGGTTCACTCACTGACTGTTC
Y
CAGCAAAGACCTGACCTTGAAGATGGGAAGTGCCCTCTTCGTCAAGAAGGAGCTGCAGCTGCAGGCAAATTTCTTGGGCAATGTCAAGAGGCTGTATGAA
Celera SNP ID:            hCV25929503
SNP Position Transcript:  446
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 149, (P,CCC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,28)   caucasian(C,34|T,2)   total(C,62|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 149, (P,CCC)   (L,CTC)   



Context             (SEQ ID NO:2134):
ACCAGAGTCTGCCATCCACCAGGGCTTCCAGCACCTGGTTCACTCACTGACTGTTCCCAGCAAAGACCTGACCTTGAAGATGGGAAGTGCCCTCTTCGTC
M
AGAAGGAGCTGCAGCTGCAGGCAAATTTCTTGGGCAATGTCAAGAGGCTGTATGAAGCAGAAGTCTTTTCTACAGATTTCTCCAACCCCTCCATTGCCCA
Celera SNP ID:            hCV25929416
SNP Position Transcript:  490
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,1)   caucasian(A,36)   total(A,69|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 164, (K,AAG)   (Q,CAG)   



Context             (SEQ ID NO:2135):
CCGGAGTTCAGCCAGGACACGTTCATGGTTCTTGCCAATTACATCTTCTTCAAAGCCAAGTGGAAGCACCCTTTCAGTCGCTACCAGACCCAGAAGCAGG
M
AAGTTTCTTTGTGGATGAGAGGACTTCTCTCCAGGTCCCCATGATGCACCAAAAGGAAATGCACAGATTCCTCTATGACCAGGATTTGGCTTGCACCGTC
Celera SNP ID:            hCV2786283
SNP Position Transcript:  2096
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:735, 699, (E,GAA)   (A,GCA)      



Gene Number:                 17
Celera Gene:                 hCG1642225 - 65000099366154
Celera Transcript:           hCT1642352 - 65000099366155
Public Transcript Accession: 
Celera Protein:              hCP1612506 - 197000069372884
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VSLS(8208662..8209638)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:39):
CTGCCCAGGGAATACAGGGCAACCTGGAAGTCCAACTACTTCCTTCAGATCATCCAATTTTTYAATCATTATCTGAAATGTTTCATTGTAGAAGCAGCAA
TGTGGGCTCCAAGTAGATGCAGCAGATCCACATGTCCCTCTGAGGGAAAGCCATGGTGCCAATRGGCAAGAACACCATGATGTGCAAGGCCATCCAAGGG
CACCTGGAAAACAACCCAGCTCTGGAAAAAYTGTTGCCTCATATCCAGGGAAATGTGGGCTTTGCGTTCACCAAGGAAGACCTCACTAAGTTCAGGGACA
TGCTGCTGAATAGTAAGGTGCCAGCTGCCACCCATGCTGGTGCCATTGCCCCATGTGAAGTCACTGTCCCAGGCCAGAACACCGGTCTGGAGCCTAAGAA
GACCTCCTTTTTCCAGGCTTTAAGCATCACCACTGAAATCCTGAGTGATGTGCAGCTRATCAAGACTGGTGACAAAGTGGGAGCCAGTGAAGCCACACTG
CTGAACATGCTGAATGAACATCTCTCCCTTCTCCTTTGGGATGATTATCCAGCAGCTGTTTGACAGTAGCAGTATCTACAACCCTGAAGTGCTTGACATC
ACATAGGAAACTGCATTCTCACCTCCTGGAGGGTGTCYGCAATGTTGCCRGTGTTTGCCTGCAGATTGGTTACCCAACTGTTGCATCAGTACCTCATTCT
ACCATCAATGGGTACAAGCAAGTCCTGGCTTTGTCTGTGGAAACTGATTGCACCTTCCCACTTGCTGAAAAGGTCAAGGCCTTCTTGGCCGATCCATCTG
CCTTTGTGGCTGCTGCCCCTGGGGCCACTGCCACCACTGCTGCTCCTGCTGCAGCTCCAGCCAAGGCTGAAGCCAAGAAGAGTTGGAGGAGTTGGATGAG
AMTATGGGATTTGGCCTATTTGACTAATCACCAAAAGGCAACCAACTCAGCCAGCTTTATTTGCAAAACAAAGAAA

Protein Sequence    (SEQ ID NO:736):
MRIWDLAYLTNHQKATNSASFICKTKK


SNP Information

Context             (SEQ ID NO:2136):
GGGATGATTATCCAGCAGCTGTTTGACAGTAGCAGTATCTACAACCCTGAAGTGCTTGACATCACATAGGAAACTGCATTCTCACCTCCTGGAGGGTGTC
Y
GCAATGTTGCCAGTGTTTGCCTGCAGATTGGTTACCCAACTGTTGCATCAGTACCTCATTCTACCATCAATGGGTACAAGCAAGTCCTGGCTTTGTCTGT
Celera SNP ID:            hCV2431186
SNP Position Transcript:  638
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,4)   total(C,3|T,4) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Context             (SEQ ID NO:2137):
CAGCAGCTGTTTGACAGTAGCAGTATCTACAACCCTGAAGTGCTTGACATCACATAGGAAACTGCATTCTCACCTCCTGGAGGGTGTCCGCAATGTTGCC
R
GTGTTTGCCTGCAGATTGGTTACCCAACTGTTGCATCAGTACCTCATTCTACCATCAATGGGTACAAGCAAGTCCTGGCTTTGTCTGTGGAAACTGATTG
Celera SNP ID:            hCV2431187
SNP Position Transcript:  650
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Context             (SEQ ID NO:2138):
CTTTGTGGCTGCTGCCCCTGGGGCCACTGCCACCACTGCTGCTCCTGCTGCAGCTCCAGCCAAGGCTGAAGCCAAGAAGAGTTGGAGGAGTTGGATGAGA
M
TATGGGATTTGGCCTATTTGACTAATCACCAAAAGGCAACCAACTCAGCCAGCTTTATTTGCAAAACAAAGAAA
Celera SNP ID:            hCV2431188
SNP Position Transcript:  902
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|C,3)      total(A,2|C,3) ;SC_12_C(C,3|A,14)   total(A,14|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:736, 3, (I,ATA)   (L,CTA)      



Context             (SEQ ID NO:2139):
AATCATTATCTGAAATGTTTCATTGTAGAAGCAGCAATGTGGGCTCCAAGTAGATGCAGCAGATCCACATGTCCCTCTGAGGGAAAGCCATGGTGCCAAT
R
GGCAAGAACACCATGATGTGCAAGGCCATCCAAGGGCACCTGGAAAACAACCCAGCTCTGGAAAAACTGTTGCCTCATATCCAGGGAAATGTGGGCTTTG
Celera SNP ID:            hCV26809148
SNP Position Transcript:  164
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   TSC_42_C(A,25|G,59)   TSC_42_AA(A,13|G,71)   A(G,0|A,84)   total(G,130|A,122)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Context             (SEQ ID NO:2140):
CTGCCCAGGGAATACAGGGCAACCTGGAAGTCCAACTACTTCCTTCAGATCATCCAATTTTT
Y
AATCATTATCTGAAATGTTTCATTGTAGAAGCAGCAATGTGGGCTCCAAGTAGATGCAGCAGATCCACATGTCCCTCTGAGGGAAAGCCATGGTGCCAAT
Celera SNP ID:            hCV2431183
SNP Position Transcript:  63
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,3)   total(C,3|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Context             (SEQ ID NO:2141):
CATGTCCCTCTGAGGGAAAGCCATGGTGCCAATGGGCAAGAACACCATGATGTGCAAGGCCATCCAAGGGCACCTGGAAAACAACCCAGCTCTGGAAAAA
Y
TGTTGCCTCATATCCAGGGAAATGTGGGCTTTGCGTTCACCAAGGAAGACCTCACTAAGTTCAGGGACATGCTGCTGAATAGTAAGGTGCCAGCTGCCAC
Celera SNP ID:            hCV2431184
SNP Position Transcript:  231
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Context             (SEQ ID NO:2142):
AAGTCACTGTCCCAGGCCAGAACACCGGTCTGGAGCCTAAGAAGACCTCCTTTTTCCAGGCTTTAAGCATCACCACTGAAATCCTGAGTGATGTGCAGCT
R
ATCAAGACTGGTGACAAAGTGGGAGCCAGTGAAGCCACACTGCTGAACATGCTGAATGAACATCTCTCCCTTCTCCTTTGGGATGATTATCCAGCAGCTG
Celera SNP ID:            hCV2431185
SNP Position Transcript:  458
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:736, None   



Gene Number:                 18
Celera Gene:                 hCG1642845 - 84000315067329
Celera Transcript:           hCT2335732 - 84000315067337
Public Transcript Accession: NM_052968
Celera Protein:              hCP1851906 - 197000069365040
Public Protein Accession:    NP_443200
Gene Symbol:                 APOA5
Protein Name:                apolipoprotein A-V;APOA-V;APOAV;RAP3
Celera Genomic Axis:         GA_x5YUV32VVY5(26684372..26686899)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:40):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAGRTAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTSGGCCACCCAGG
CACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGAMAAAGGCAGGGTGGAGCAGATMCATCAGCAGAAGATGGCTCGCGAGCCCGCGTGAGT
GCCCAGGGGAAGGGGTGTAGGCGAAGGGAGGAGACAGCTGGGCCATGCCATGATGACCTGCCTCTGCTGCCTCAACCTCTGTGGCCGCTGCTGGGACAGA
GGAAAGGAGCGGTGCTAGCTCTGTCTGCAGATCCCGGCCATCCTGGGCTCTTTAGCGCCCTCTGCCTGCAGCCCCCGCCTTGACAACTCCGTAGCTGTTG
CCCCCTTGCTCACTGAGGCGCGGGACCTGGGATCAATCGGGAGGACGCCCGCTGCAGTCCCCAGAATCAAAGGATGATGTGGCGCATCTATGTTTCTTTG
GAGAGTGTTGTAGGTCTGGATTTGTATGGSCAATGTGTTTGTGCTTCGTGCGTGAGTTGTTACTGGCCAGGGCTAGGACAAGAGCCCTCGACCCTGGGGC
CAACGCCCTGCGTCCTTGGTTCCCCCAGAGGATCAGTGCGCGATGACTTGGGGACAAAGGAGATGATGGRGGCTAGCAGTCTGACGGCCTGGATATCTGT
CCCCTTCTCCAGGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCCTGGAAAAGCTGAGGCCTCTGAGTGGGAGCGAGGCTCCT
CGGCTCCCACAGGACCCGGTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGGAGGAGGTGAAGGCTCGCCTCCAGCCCTACATGGCAGAGGCGCACGAGC
TGGTGGGCTGGAATTTGGAGGGCTTGCGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCA
GTTGCGCRTGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCAC
ACCKGCCGCTTCAAAGAGCTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACG
CCCCCGCCAGCCCCGCGCGCCTCAGTCGCTGCGTGCAGGTGCTCTCCCGGAAGCTCACGCTCAAGGCCAAGGCCCTGCACGCACGCATCCAGCAGAACCT
GGACCAGCTGCGCGAAGAGCTCAGCAGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCCAG
CGACTTCAGGCTTTCCGCCAGGACAYCTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCAC
CTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTRGCAAGGTTCTGAGCAAGCTGCASGCCCGTCTGGATGACCTGTGGGAAGA
CATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTYCTTGTCTGGGGAGCCTT
GGCTCTGAGCMTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTG
TCTCCTGCANATCCAGCCTCCTGYGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCA
TGAGTTACTCCATTCAAGGGTGAGGGAGTAGGGAGGGAGAGGCACCATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTG
CCACTACATCCTGGAGTTTGGCTCTAGTCACTTCTGGCTGCCTGGYGGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCC
ATGGCAGCTATCAGGGGAATAGAAGGGAGAAAGAGAATATCATGGGGAGAACATGTGATGGTGTGTGAATATCCCTGCTGGCTCTGATGCTGGTGGGTAC
GAAAGGTGTGGGCTGTGATAGGAGAGGGCAGAGCCCATGTTTCCTGACATAGCTCTACACCTAAATAAGGGACTGAACCCTCCCAACTGTGGGAGCTCCT
TAAACCCTCTGGGGAGCATACTGTGTGCTCTCCCCATCTCCAGCCCCTCCCTCTGGGTTCCCAAGTTGAAGCCTAGACTTCTGGCTCAAATGAAATAGAT
GTTTATGATAGAA

Protein Sequence    (SEQ ID NO:737):
MMWRIYVSLESVVGLDLYGQCVCASCVSCYWPGLGQEPSTLGPTPCVLGSPRGSVRDDLGTKEMMGASSLTAWISVPFSRTLKDSLEQDLNNMNKFLEKL
RPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQ
GLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREELSRAFAGTGTEEGAGPDP
QMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP


SNP Information

Context             (SEQ ID NO:2143):
GGATCAATCGGGAGGACGCCCGCTGCAGTCCCCAGAATCAAAGGATGATGTGGCGCATCTATGTTTCTTTGGAGAGTGTTGTAGGTCTGGATTTGTATGG
S
CAATGTGTTTGTGCTTCGTGCGTGAGTTGTTACTGGCCAGGGCTAGGACAAGAGCCCTCGACCCTGGGGCCAACGCCCTGCGTCCTTGGTTCCCCCAGAG
Celera SNP ID:            hCV16249722
SNP Position Transcript:  530
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:737, 19, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:2144):
CTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGGTGGAGCAGAT
M
CATCAGCAGAAGATGGCTCGCGAGCCCGCGTGAGTGCCCAGGGGAAGGGGTGTAGGCGAAGGGAGGAGACAGCTGGGCCATGCCATGATGACCTGCCTCT
Celera SNP ID:            hCV25638151
SNP Position Transcript:  165
SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,32)   caucasian(A,1|C,39)   total(A,7|C,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2145):
TGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGA
M
AAAGGCAGGGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAGCCCGCGTGAGTGCCCAGGGGAAGGGGTGTAGGCGAAGGGAGGAGACAGCTGGGCC
Celera SNP ID:            hCV25638152
SNP Position Transcript:  144
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,33)   caucasian(C,40)   total(A,5|C,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2146):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAGATAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTT
S
GGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAG
Celera SNP ID:            hCV25638153
SNP Position Transcript:  89
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,4)   caucasian(C,39|G,1)   total(C,73|G,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2147):
CTGGAATTTGGAGGGCTTGCGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCAGTTGCGC
R
TGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCGGCCG
Celera SNP ID:            hCV25638155
SNP Position Transcript:  1008
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 179, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:2148):
CATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGGAGTTTGGCTCTAGTCACTTCTGGCTGCCTGG
Y
GGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCATGGCAGCTATCAGGGGAATAGAAGGGAGAAAGAGAATATCATGGG
Celera SNP ID:            hCV27842142
SNP Position Transcript:  2046
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(C,1|T,37)   total(C,3|T,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2149):
AGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCCAGCGACTTCAGGCTTTCCGCCAGGACA
Y
CTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCC
Celera SNP ID:            hCV25638156
SNP Position Transcript:  1426
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 318, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:2150):
TCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGT
R
GCAAGGTTCTGAGCAAGCTGCAGGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTG
Celera SNP ID:            hCV25638157
SNP Position Transcript:  1551
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 360, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:2151):
AGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTCCTTGTCTGGGGAGCCTTGGCTCTGAGC
M
TCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCATA
Celera SNP ID:            hCV25638158
SNP Position Transcript:  1711
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2152):
AGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTGGCAAGGTTCTGAGCAAGCTGCA
S
GCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCAT
Celera SNP ID:            hCV29138169
SNP Position Transcript:  1574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 367, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:2153):
GGGCTAGGACAAGAGCCCTCGACCCTGGGGCCAACGCCCTGCGTCCTTGGTTCCCCCAGAGGATCAGTGCGCGATGACTTGGGGACAAAGGAGATGATGG
R
GGCTAGCAGTCTGACGGCCTGGATATCTGTCCCCTTCTCCAGGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCCTGGAAAAG
Celera SNP ID:            hCV16176893
SNP Position Transcript:  670
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,3|G,35)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 66, (E,GAG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,273|G,804)   total(G,804|A,273) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 66, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:2154):
CAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCATATCCAGCCTCCTG
Y
GACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTCCATTCAAGGGTGAG
Celera SNP ID:            hCV27853957
SNP Position Transcript:  1824
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,34)   total(C,61|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None



Context             (SEQ ID NO:2155):
CCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCA
N
ATCCAGCCTCCTGCGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTC
Celera SNP ID:            hCV8907619
SNP Position Transcript:  1810
SNP Source:               Applera
Population(Allele,Count): african american(T,24)   caucasian(C,2|T,34)   total(C,2|T,58)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None   



Context             (SEQ ID NO:2156):
GCGCGTGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACC
K
GCCGCTTCAAAGAGCTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACGCCCC
Celera SNP ID:            hCV26488223
SNP Position Transcript:  1104
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:737, 211, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:2157):
GGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCT
Y
CTTGTCTGGGGAGCCTTGGCTCTGAGCCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGC
Celera SNP ID:            hCV2310400
SNP Position Transcript:  1683
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,31|T,9)   total(C,62|T,16)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:737, None   



Context             (SEQ ID NO:2158):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAG
R
TAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCA
Celera SNP ID:            hCV2310401
SNP Position Transcript:  31
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,3)   caucasian(A,33|G,1)   total(A,52|G,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:737, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,447|A,866)   total(G,447|A,866)   no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:737, None   



Gene Number:                 18
Celera Gene:                 hCG1642845 - 84000315067329
Celera Transcript:           hCT1642972 - 84000315067330
Public Transcript Accession: NM_052968
Celera Protein:              hCP1615061 - 197000069365039
Public Protein Accession:    NP_443200
Gene Symbol:                 APOA5
Protein Name:                apolipoprotein A-V;APOA-V;APOAV;RAP3
Celera Genomic Axis:         GA_x5YUV32VVY5(26684372..26686899)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:41):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAGRTAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTSGGCCACCCAGG
CACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGAMAAAGGCAGGGTGGAGCAGATMCATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCT
GAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCCTGGAAAAGCTGAGGCCTCTGAGTGGGAGCGAGGCTCCTCGGCTCCCACAGGACCCG
GTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGGAGGAGGTGAAGGCTCGCCTCCAGCCCTACATGGCAGAGGCGCACGAGCTGGTGGGCTGGAATTTGG
AGGGCTTGCGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCAGTTGCGCRTGGTGGGGGA
AGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCKGCCGCTTCAAAGAG
CTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACGCCCCCGCCAGCCCCGCGC
GCCTCAGTCGCTGCGTGCAGGTGCTCTCCCGGAAGCTCACGCTCAAGGCCAAGGCCCTGCACGCACGCATCCAGCAGAACCTGGACCAGCTGCGCGAAGA
GCTCAGCAGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCCAGCGACTTCAGGCTTTCCGC
CAGGACAYCTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTG
CCTTCGCCCCAGAGTTTCAACAAACAGACAGTRGCAAGGTTCTGAGCAAGCTGCASGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCA
TGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTYCTTGTCTGGGGAGCCTTGGCTCTGAGCMTCTAGCA
TGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCANATCCAGCC
TCCTGYGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTCCATTCAAG
GGTGAGGGAGTAGGGAGGGAGAGGCACCATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGGAGTT
TGGCTCTAGTCACTTCTGGCTGCCTGGYGGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCATGGCAGCTATCAGGGGA
ATAGAAGGGAGAAAGAGAATATCATGGGGAGAACATGTGATGGTGTGTGAATATCCCTGCTGGCTCTGATGCTGGTGGGTACGAAAGGTGTGGGCTGTGA
TAGGAGAGGGCAGAGCCCATGTTTCCTGACATAGCTCTACACCTAAATAAGGGACTGAACCCTCCCAACTGTGGGAGCTCCTTAAACCCTCTGGGGAGCA
TACTGTGTGCTCTCCCCATCTCCAGCCCCTCCCTCTGGGTTCCCAAGTTGAAGCCTAGACTTCTGGCTCAAATGAAATAGATGTTTATGATAGAA

Protein Sequence    (SEQ ID NO:738):
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEEL
EEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVS
GIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFT
RAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP


SNP Information

Context             (SEQ ID NO:2159):
CAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCATATCCAGCCTCCTG
Y
GACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTCCATTCAAGGGTGAG
Celera SNP ID:            hCV27853957
SNP Position Transcript:  1306
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,34)   total(C,61|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None



Context             (SEQ ID NO:2160):
CTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGGTGGAGCAGAT
M
CATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCCTGGAAAAGCTGAGGCCTCTGA
Celera SNP ID:            hCV25638151
SNP Position Transcript:  165
SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,32)   caucasian(A,1|C,39)   total(A,7|C,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:738, 44, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:2161):
CCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCA
N
ATCCAGCCTCCTGCGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTC
Celera SNP ID:            hCV8907619
SNP Position Transcript:  1292
SNP Source:               Applera
Population(Allele,Count): african american(T,24)   caucasian(C,2|T,34)   total(C,2|T,58)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None   



Context             (SEQ ID NO:2162):
TGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGA
M
AAAGGCAGGGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCC
Celera SNP ID:            hCV25638152
SNP Position Transcript:  144
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,33)   caucasian(C,40)   total(A,5|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 37, (E,GAA)   (D,GAC)   



Context             (SEQ ID NO:2163):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAGATAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTT
S
GGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAG
Celera SNP ID:            hCV25638153
SNP Position Transcript:  89
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,4)   caucasian(C,39|G,1)   total(C,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 19, (S,TCG)   (W,TGG)   



Context             (SEQ ID NO:2164):
GCGCGTGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACC
K
GCCGCTTCAAAGAGCTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACGCCCC
Celera SNP ID:            hCV26488223
SNP Position Transcript:  586
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 185, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:2165):
CTGGAATTTGGAGGGCTTGCGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCAGTTGCGC
R
TGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCGGCCG
Celera SNP ID:            hCV25638155
SNP Position Transcript:  490
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 153, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:2166):
CATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGGAGTTTGGCTCTAGTCACTTCTGGCTGCCTGG
Y
GGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCATGGCAGCTATCAGGGGAATAGAAGGGAGAAAGAGAATATCATGGG
Celera SNP ID:            hCV27842142
SNP Position Transcript:  1528
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(C,1|T,37)   total(C,3|T,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None



Context             (SEQ ID NO:2167):
AGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCCAGCGACTTCAGGCTTTCCGCCAGGACA
Y
CTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCC
Celera SNP ID:            hCV25638156
SNP Position Transcript:  908
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 292, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:2168):
TCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGT
R
GCAAGGTTCTGAGCAAGCTGCAGGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTG
Celera SNP ID:            hCV25638157
SNP Position Transcript:  1033
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 334, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:2169):
AGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTCCTTGTCTGGGGAGCCTTGGCTCTGAGC
M
TCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCATA
Celera SNP ID:            hCV25638158
SNP Position Transcript:  1193
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None



Context             (SEQ ID NO:2170):
AGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTGGCAAGGTTCTGAGCAAGCTGCA
S
GCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCAT
Celera SNP ID:            hCV29138169
SNP Position Transcript:  1056
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:738, 341, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:2171):
GGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCT
Y
CTTGTCTGGGGAGCCTTGGCTCTGAGCCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGC
Celera SNP ID:            hCV2310400
SNP Position Transcript:  1165
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,31|T,9)   total(C,62|T,16)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:738, None   



Context             (SEQ ID NO:2172):
GGCCTCCCTCCACCTGTCTTCTCAGAGCAG
R
TAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCA
Celera SNP ID:            hCV2310401
SNP Position Transcript:  31
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,3)   caucasian(A,33|G,1)   total(A,52|G,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:738, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,447|A,866)   total(G,447|A,866)   no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:738, None   



Gene Number:                 19
Celera Gene:                 hCG1642880 - 30000022995751
Celera Transcript:           hCT1643007 - 30000022995752
Public Transcript Accession: NM_002565
Celera Protein:              hCP1624982 - 197000069388130
Public Protein Accession:    NP_002556
Gene Symbol:                 P2RY4
Protein Name:                pyrimidinergic receptor P2Y, G-protein coupled, 4;NRU;P2P;P2Y4;UNR
Celera Genomic Axis:         GA_x5YUV32W7H1(1471318..1472746)
Chromosome:                  ChrX
OMIM number:                 300038
OMIM Information:            PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4;P2RY4


Transcript Sequence (SEQ ID NO:42):
AAGGGAGCTTGGGTAGGGGCCAGGCTAGCCTGAGTGCACCCAGATGCGCTTCTGTCAGCTCTCCCTAGTGCTTCAACCACTGCTCTCCCTGCTCTACTTT
RTTTGCTCCAGCTCAGGGATGGGGGTGGGCAGGGAAATCCTGCCACCCTCACTTCTCCCCTTCCCATCTCCAGGGGGGCCATGGCCAGTACAGAGTCCTC
CCTGTTGAGATCCCTAGGCCTCAGCCCAGGTCCTGGCAGCAGTGAGGTGGAGCTGGACTGTTGGTTTGATGAGGATTTCAAGTTCATCCTGCTGCCTGTG
AGCTATGCAGTTGTCTTTGTGCTGGGCTTGGGCCTTAACGCCCCAACCCTATGGCTCTTCATCTTCCGCCTCCGACCCTGGGATGCAACGGCCACCTACA
TGTTCCACCTGGCATTGTCAGACACCTTGTATGTGCTGTCGCTGCCCACCCTCATCTACTATTATGCAGCCCACAACCACTGGCCCTTTGGCACTGAGAT
CRGCAAGTTCGTCCGCTTTCTTTTCTATTGGAMCCTCTACTGCAGTGTCCTTTTCCTCACCTGCATCAGCGYGCACCGCTACCTGGGCATCTGCCACCCA
CTTCGGGCACTACGCTGGGGCCGCCCTCGCCTCGCAGGCCTTCTCTGCCTGGCAGTTTGGTTGGTCGTAGCCGGCTGCCTCGTGCCCAACCTGTTCTTTK
TCACAACCAGCAACAAAGGGACCACMGTCCTGTGCCATRACACCACTCGGCCTGAAGAGTTTGACCACTATGTGCACTTCAGCTCGGCGGTCATGGGGCT
GCTCTTTGGCGTGCCCTGCCTGGTCACTCTTGTTTGCTATGGACTCATGGCTCGTCGCCTGTATCAGCCCTTGCCAGGCTCTGCACAGTCGTCTTCTCGC
CTCCGCTCTCTCCGCACCATAGCTGTGGTGCTGACTGTCTTTGCTGTCTGCTRCGTGCCTTTCCACATCACCCGCACCATTTACTACCTGGCCAGYCTGT
TGGAAGCTGACTGCCGAGTACTGAACATTGTCAACGTGGTCTRTAAAGTGACTCGGCRCCTGGCCAGTGCCAACAGCTGCCTGGATCCTGTGCTCTACTT
GCTCACTGGGGACAAATATCGACGTCAGCTCCGTCAGCTCTGTGGTGGTGGCAAGCCCCAGCCCCGCACGGCTGCCTCTTCCCTGGCACTAGTGTCCCTG
CCTGAGGATAGCAGCTGCAGGTGGGCGGCCACCCCCCAGGACAGTAGCTGCTCTACTCCTAGGGCAGATAGATTGTAACACGGGAAGCCGGGAAGTGAGA
GAAAAGGGGATGAGTGCAGGGCAGAGGTGAGGGAACCCAATAGTGATACCTGGTAAGGTGCTTCTTCCTCTTTTCCAGGCTCTGGAGAGAAGCCCTCACC
CTGAGGGTTGCAGGGAGGCAGGGATATC

Protein Sequence    (SEQ ID NO:739):
MASTESSLLRSLGLSPGPGSSEVELDCWFDEDFKFILLPVSYAVVFVLGLGLNAPTLWLFIFRLRPWDATATYMFHLALSDTLYVLSLPTLIYYYAAHNH
WPFGTEICKFVRFLFYWNLYCSVLFLTCISVHRYLGICHPLRALRWGRPRLAGLLCLAVWLVVAGCLVPNLFFVTTSNKGTTVLCHDTTRPEEFDHYVHF
SSAVMGLLFGVPCLVTLVCYGLMARRLYQPLPGSAQSSSRLRSLRTIAVVLTVFAVCFVPFHITRTIYYLARLLEADCRVLNIVNVVYKVTRPLASANSC
LDPVLYLLTGDKYRRQLRQLCGGGKPQPRTAASSLALVSLPEDSSCRWAATPQDSSCSTPRADRL


SNP Information

Context             (SEQ ID NO:2173):
CTCGCCTCCGCTCTCTCCGCACCATAGCTGTGGTGCTGACTGTCTTTGCTGTCTGCTTCGTGCCTTTCCACATCACCCGCACCATTTACTACCTGGCCAG
Y
CTGTTGGAAGCTGACTGCCGAGTACTGAACATTGTCAACGTGGTCTATAAAGTGACTCGGCCCCTGGCCAGTGCCAACAGCTGCCTGGATCCTGTGCTCT
Celera SNP ID:            hCV8815432
SNP Position Transcript:  996
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:739, 332, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:2174):
CACAACCACTGGCCCTTTGGCACTGAGATCTGCAAGTTCGTCCGCTTTCTTTTCTATTGGAACCTCTACTGCAGTGTCCTTTTCCTCACCTGCATCAGCG
Y
GCACCGCTACCTGGGCATCTGCCACCCACTTCGGGCACTACGCTGGGGCCGCCCTCGCCTCGCAGGCCTTCTCTGCCTGGCAGTTTGGTTGGTCGTAGCC
Celera SNP ID:            hCV8815433
SNP Position Transcript:  572
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 191, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:2175):
GTGCTGTCGCTGCCCACCCTCATCTACTATTATGCAGCCCACAACCACTGGCCCTTTGGCACTGAGATCTGCAAGTTCGTCCGCTTTCTTTTCTATTGGA
M
CCTCTACTGCAGTGTCCTTTTCCTCACCTGCATCAGCGTGCACCGCTACCTGGGCATCTGCCACCCACTTCGGGCACTACGCTGGGGCCGCCCTCGCCTC
Celera SNP ID:            hCV8815434
SNP Position Transcript:  533
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,20)   caucasian(A,27|C,7)   total(A,39|C,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 178, (N,AAC)   (T,ACC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 178, (N,AAC)   (T,ACC)      



Context             (SEQ ID NO:2176):
GTTCCACCTGGCATTGTCAGACACCTTGTATGTGCTGTCGCTGCCCACCCTCATCTACTATTATGCAGCCCACAACCACTGGCCCTTTGGCACTGAGATC
R
GCAAGTTCGTCCGCTTTCTTTTCTATTGGAACCTCTACTGCAGTGTCCTTTTCCTCACCTGCATCAGCGTGCACCGCTACCTGGGCATCTGCCACCCACT
Celera SNP ID:            hCV8815443
SNP Position Transcript:  502
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,24)   caucasian(A,1|G,33)   total(A,7|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 168, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 168, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:2177):
AAGGGAGCTTGGGTAGGGGCCAGGCTAGCCTGAGTGCACCCAGATGCGCTTCTGTCAGCTCTCCCTAGTGCTTCAACCACTGCTCTCCCTGCTCTACTTT
R
TTTGCTCCAGCTCAGGGATGGGGGTGGGCAGGGAAATCCTGCCACCCTCACTTCTCCCCTTCCCATCTCCAGGGGGGCCATGGCCAGTACAGAGTCCTCC
Celera SNP ID:            hCV25638253
SNP Position Transcript:  101
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,24)   total(A,59|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 34, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:2178):
ACTTCGGGCACTACGCTGGGGCCGCCCTCGCCTCGCAGGCCTTCTCTGCCTGGCAGTTTGGTTGGTCGTAGCCGGCTGCCTCGTGCCCAACCTGTTCTTT
K
TCACAACCAGCAACAAAGGGACCACCGTCCTGTGCCATGACACCACTCGGCCTGAAGAGTTTGACCACTATGTGCACTTCAGCTCGGCGGTCATGGGGCT
Celera SNP ID:            hCV25638254
SNP Position Transcript:  700
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,26)   caucasian(G,1|T,29)   total(G,9|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 234, (A,GCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 234, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:2179):
CGTCGCCTGTATCAGCCCTTGCCAGGCTCTGCACAGTCGTCTTCTCGCCTCCGCTCTCTCCGCACCATAGCTGTGGTGCTGACTGTCTTTGCTGTCTGCT
R
CGTGCCTTTCCACATCACCCGCACCATTTACTACCTGGCCAGGCTGTTGGAAGCTGACTGCCGAGTACTGAACATTGTCAACGTGGTCTATAAAGTGACT
Celera SNP ID:            hCV25638263
SNP Position Transcript:  953
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,30)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 318, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:2180):
CTCGCCTCGCAGGCCTTCTCTGCCTGGCAGTTTGGTTGGTCGTAGCCGGCTGCCTCGTGCCCAACCTGTTCTTTGTCACAACCAGCAACAAAGGGACCAC
M
GTCCTGTGCCATGACACCACTCGGCCTGAAGAGTTTGACCACTATGTGCACTTCAGCTCGGCGGTCATGGGGCTGCTCTTTGGCGTGCCCTGCCTGGTCA
Celera SNP ID:            hCV25638255
SNP Position Transcript:  726
SNP Source:               Applera
Population(Allele,Count): african american(A,4|C,32)   caucasian(A,1|C,33)   total(A,5|C,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:739, 242, (R,CGA)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,2|C,34)   total(A,7|C,63)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:739, 242, (R,CGA)   (R,CGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:739, 242, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:2181):
GCTGTCTGCTTCGTGCCTTTCCACATCACCCGCACCATTTACTACCTGGCCAGGCTGTTGGAAGCTGACTGCCGAGTACTGAACATTGTCAACGTGGTCT
R
TAAAGTGACTCGGCCCCTGGCCAGTGCCAACAGCTGCCTGGATCCTGTGCTCTACTTGCTCACTGGGGACAAATATCGACGTCAGCTCCGTCAGCTCTGT
Celera SNP ID:            hCV25638264
SNP Position Transcript:  1043
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 348, (X,TAG)   (W,TGG)   



Context             (SEQ ID NO:2182):
CCTTTCCACATCACCCGCACCATTTACTACCTGGCCAGGCTGTTGGAAGCTGACTGCCGAGTACTGAACATTGTCAACGTGGTCTATAAAGTGACTCGGC
R
CCTGGCCAGTGCCAACAGCTGCCTGGATCCTGTGCTCTACTTGCTCACTGGGGACAAATATCGACGTCAGCTCCGTCAGCTCTGTGGTGGTGGCAAGCCC
Celera SNP ID:            hCV25638265
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,30)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 353, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:2183):
CCTTCTCTGCCTGGCAGTTTGGTTGGTCGTAGCCGGCTGCCTCGTGCCCAACCTGTTCTTTGTCACAACCAGCAACAAAGGGACCACCGTCCTGTGCCAT
R
ACACCACTCGGCCTGAAGAGTTTGACCACTATGTGCACTTCAGCTCGGCGGTCATGGGGCTGCTCTTTGGCGTGCCCTGCCTGGTCACTCTTGTTTGCTA
Celera SNP ID:            hCV25638266
SNP Position Transcript:  739
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,32)   total(A,67|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:739, 247, (I,ATA)   (V,GTA)   



Gene Number:                 20
Celera Gene:                 hCG1643845 - 30000035509535
Celera Transcript:           hCT1643972 - 30000035509537
Public Transcript Accession: NM_000223
Celera Protein:              hCP1604786 - 197000064954685
Public Protein Accession:    NP_000214
Gene Symbol:                 KRT12
Protein Name:                keratin 12 (Meesmann corneal dystrophy);K12
Celera Genomic Axis:         GA_x5YUV32VU68(2550285..2556213)
Chromosome:                  Chr17
OMIM number:                 601687
OMIM Information:            KERATIN 12;KRT12


Transcript Sequence (SEQ ID NO:43):
AGTTGTGGCCACCTTCCCCAGGCCATGGATCTCTCCAACAACACCATGTCACTCTCAGTGCGCACCYCCGGACTGTCCCGGYGGCTCTCCTCGCAGAGTG
TGATAGGCAGACCCAGGGGCATGTCTGCTTCCAGTGTTGGAAGTGGTTATGGGGGAAGTGCCTTTGGCTTTGGAGCCAGCTGTGGGGGAGGCTTTTCTGC
TGCTTCCATGTTTGGTTCTAGTTCCGGCTTTGGGGGTGGCTCCGGAAGTTCCATGGCAGGAGGACTGGGTGCTGGTTATGGGAGAGCCCTGGGTGGAGGT
AGCTTTGGAGGGCTGGGGATGGGATTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAA
AAGAAACTAYGCMAAATCTTAAKGATRBATTAGCTTCCTACCKGGATAAGSTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGA
ATGGTATGAAACACGAGGAACTGGGACTGCAGATGCTTCACAGAGCGATTACAGCAAATATTATCCACTGATTGAAGACCTCAGGAATAAGATCATTTCA
GCCAGCATTGGAAATGCCCAGCTCCTCTTGCAGATTGACAATGCGAGACTAGCTGCTGAGGACTTCAGGATGAAGTATGAGAATGAACTGGCCCTGCGCC
AGGGCGTAGAGGCCGACATCAATGGCCTGCGCCGGGTGCTGGACGAGCTGAYCCTGACCAGGACYGACCTGGAGATGCAGATCGAGAGCCTGAACGAGGA
GCTGGCCTACATGAAGAAGAACCACGAGGATGAGCTCCAAAGCTTCCGGGTGGGCGGCCCAGGCGAGGTCAGCGTAGAAATGGACGCTGCCCCCGGAGTG
GACCTCACCAGGCTCCTCAATGATATGCGGGCGCAGTATGAAACCATCGCTGAGCAGAATCGGAAGGACGCTGAAGCCTGGTTCATTGAAAAGAGCGGGG
AGCTCCGTAAGGAGATTAGCACCAACACCGAGCAGCTTCAGTCCAGCAAGAGCGAGGTCACCGACCTGCGTCGCGCCTTTCAGAACCTGGAGATCGAGCT
ACAGTCCCAGCTCGCCATGAAGAAATCCCTGGAGGACTCCTTGGCCGAAGCCGAGGGCGATTACTGCGCGCAGCTGTCCCAGGTGCAGCAGCTCATCAGC
AACCTGGAGGCACAGCTGCTCCAGGTGCGCGCGGACGCAGAGCGCCAGAACGTGGACCACCAGCGGCTGCTGAATGTCAAGGCCCGCCTGGAGCTGGAGR
TTGAGACCTACCGCCGCCTGCTGGACGGGGAGGCCCAAGGTGATGGTTTGGAGGAAAGTTTATTTGTGACAGACTCCAAATCACAAGCACAGTCAACTGA
TTCCTCTAAAGACCCAACCAAAACCCGAAAAATCAAGACAGTTGTGCAGGAGATGGTGAATGGTGAGGTGGTCTCATCTCAAGTTCAGGAAATTGAAGAA
CTAATGTAAAATTTCACAAGATCTGCCCCATGATTGGTTCCTTAGGAACAAGAAATTTACAAGTAGAAATTATTCCTTTCAGAGTAACATGCTGTATTAC
TTCAATCCCTATTTTTGTCTGTTCCATTTTCTTTGGATTCCYTATTCACATTGAATCCTTTTTGCCCTTCTGAAACAATATTCAGTCACAAGTCATTTTG
GTCATGTTGGTCTTTGTAACAAATCAAAATTACCTTATATCCTTCTGGACCTGGAGTAGTCTTTTAACGAACTTTCTTCTGGTAACCCGGAATATTTTTT
AATCATAGAGCTTTAATCAAGTAGTATTGTTTTAATAGAGTTAATTGTAATAAAAGATGAATGGTAATAATGTGAAATGT

Protein Sequence    (SEQ ID NO:740):
MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMG
FGGSPGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQL
LLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLND
MRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQ
VRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM


SNP Information

Context             (SEQ ID NO:2184):
CTGGGGATGGGATTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGC
M
AAATCTTAATGATAGATTAGCTTCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACA
Celera SNP ID:            hCV27528088
SNP Position Transcript:  413
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 130, (Q,CAA)   (P,CCA)      



Context             (SEQ ID NO:2185):
GATTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAA
K
GATAGATTAGCTTCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACACGAGGAACTG
Celera SNP ID:            hCV28016627
SNP Position Transcript:  423
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 133, (K,AAG)   (N,AAT)      



Context             (SEQ ID NO:2186):
TTAGGAACAAGAAATTTACAAGTAGAAATTATTCCTTTCAGAGTAACATGCTGTATTACTTCAATCCCTATTTTTGTCTGTTCCATTTTCTTTGGATTCC
Y
TATTCACATTGAATCCTTTTTGCCCTTCTGAAACAATATTCAGTCACAAGTCATTTTGGTCATGTTGGTCTTTGTAACAAATCAAAATTACCTTATATCC
Celera SNP ID:            hCV25640534
SNP Position Transcript:  1642
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,22)   total(C,59|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:740, None



Context             (SEQ ID NO:2187):
GGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTACC
K
GGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACACGAGGAACTGGGACTGCAGATGCTTCACAG
Celera SNP ID:            hCV27531690
SNP Position Transcript:  443
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 140, (R,CGG)   (L,CTG)      



Context             (SEQ ID NO:2188):
GGGCTGGGGATGGGATTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTA
Y
GCAAAATCTTAATGATAGATTAGCTTCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAA
Celera SNP ID:            hCV27535909
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 129, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:2189):
CAACCTGGAGGCACAGCTGCTCCAGGTGCGCGCGGACGCAGAGCGCCAGAACGTGGACCACCAGCGGCTGCTGAATGTCAAGGCCCGCCTGGAGCTGGAG
R
TTGAGACCTACCGCCGCCTGCTGGACGGGGAGGCCCAAGGTGATGGTTTGGAGGAAAGTTTATTTGTGACAGACTCCAAATCACAAGCACAGTCAACTGA
Celera SNP ID:            hCV27541572
SNP Position Transcript:  1300
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 426, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:2190):
GCTGCTGAGGACTTCAGGATGAAGTATGAGAATGAACTGGCCCTGCGCCAGGGCGTAGAGGCCGACATCAATGGCCTGCGCCGGGTGCTGGACGAGCTGA
Y
CCTGACCAGGACCGACCTGGAGATGCAGATCGAGAGCCTGAACGAGGAGCTGGCCTACATGAAGAAGAACCACGAGGATGAGCTCCAAAGCTTCCGGGTG
Celera SNP ID:            hCV25640546
SNP Position Transcript:  752
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 243, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:2191):
TCAGGATGAAGTATGAGAATGAACTGGCCCTGCGCCAGGGCGTAGAGGCCGACATCAATGGCCTGCGCCGGGTGCTGGACGAGCTGACCCTGACCAGGAC
Y
GACCTGGAGATGCAGATCGAGAGCCTGAACGAGGAGCTGGCCTACATGAAGAAGAACCACGAGGATGAGCTCCAAAGCTTCCGGGTGGGCGGCCCAGGCG
Celera SNP ID:            hCV25640547
SNP Position Transcript:  765
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:740, 247, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:2192):
AGTTGTGGCCACCTTCCCCAGGCCATGGATCTCTCCAACAACACCATGTCACTCTCAGTGCGCACC
Y
CCGGACTGTCCCGGCGGCTCTCCTCGCAGAGTGTGATAGGCAGACCCAGGGGCATGTCTGCTTCCAGTGTTGGAAGTGGTTATGGGGGAAGTGCCTTTGG
Celera SNP ID:            hCV2557958
SNP Position Transcript:  67
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,17|T,19)   total(C,49|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 15, (P,CCC)   (S,TCC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3)   Caucasian(T,128|C,184)   Chinese(C,24|T,32)   Japanese(C,5|T,7)   Tfrican(T,8|C,92)   total(C,305|T,175) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 15, (P,CCC)   (S,TCC)      15, (S,TCC)   (P,CCC)      



Context             (SEQ ID NO:2193):
GGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATA
B
ATTAGCTTCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACACGAGGAACTGGGACT
Celera SNP ID:            hCV27536870
SNP Position Transcript:  428
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 135, (T,ACA)   (R,AGA)      135, (R,AGA)   (I,ATA)      



Context             (SEQ ID NO:2194):
TCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTACCTGGATAAG
S
TGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACACGAGGAACTGGGACTGCAGATGCTTCACAGAGCGATTA
Celera SNP ID:            hCV27536871
SNP Position Transcript:  451
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 143, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:2195):
TGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGAT
R
GATTAGCTTCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGGTATGAAACACGAGGAACTGGGAC
Celera SNP ID:            hCV27531689
SNP Position Transcript:  427
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 135, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:2196):
AGTTGTGGCCACCTTCCCCAGGCCATGGATCTCTCCAACAACACCATGTCACTCTCAGTGCGCACCCCCGGACTGTCCCGG
Y
GGCTCTCCTCGCAGAGTGTGATAGGCAGACCCAGGGGCATGTCTGCTTCCAGTGTTGGAAGTGGTTATGGGGGAAGTGCCTTTGGCTTTGGAGCCAGCTG
Celera SNP ID:            hCV25640559
SNP Position Transcript:  82
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,33|T,3)   total(C,70|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:740, 20, (R,CGG)   (W,TGG)   



Gene Number:                 21
Celera Gene:                 hCG1645266 - 198000042537719
Celera Transcript:           hCT1645393 - 198000042537720
Public Transcript Accession: NM_018406
Celera Protein:              hCP1634684 - 176000014337713
Public Protein Accession:    NP_060876
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32UVRL(2045..28001)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:44):
CTGTGGAAGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTTGCTGAT
GAGGGCCGTGGTGAAGGTTTTACCAGACCCTGAAGGTGACAGAGTGTGGGTCTGGGTTTGTGGAGATGTAAGCCCASTGGATGTGATCGATGGAGGTGTG
GGTGGGACTGTTGAGAAGGTGTCGGTTGCCTGGGACGCCAGGCTGATAGTGTCAGACCCTCTGCTGGTTCTTGTCCTCTGAGTCTGGGCCATCCGGGAAA
TGGCGGCTGTCTCCTGAGGAGAGGCACTGGGAGAAGTTGGGCTTGACTGTCCTGTCGGTCTCCCTGCAGTGGAGGCCTCAGAGAGGGTGGGATGAAAGGT
GCCGGGGACGATCGAAGACGCCATTCCTGTGCTTACTGGGATGGCACCATGACTGGCTGAGGCGGACAGCAATTCGGTTGTTGACTGGGTTGTGTGACTG
TCCCTGGAGGGGTTTGATGAAAACCTTGTCGTCTCTCCTGAGGTGGATATTCCTTCGCTTCCTGAAGGTGTTGTGCCACTCGCCCCGGATGAGGAAGGGG
TAGCTGTGCCCGCTGAGGTGGTTCGTGACCCTGAGGAGGCCGGTTCGCTGGTCTGTGTTTGTCCAGAGGCCTCTGTGCTCTCAGCCTGGTGGGTATGGGT
CATGGCTGCTGCTGTGTCAGGTGAGGTGCTGGCAGAGGCTGATGTCCATTGTCCTTCTGGGCCCCCTGGTGTTGACACTACAGAGTTGGCCAGAGTAAGG
GCACCTGTTTTGGAAAGTGACGTGCCTCCTGAGGGCCCCAGGGTGGCATCATGGCTGCTGGGTGYTGCCTGCAGTGCTGTGGTCGGGGCCTGGGTTGTGT
GACCATCCCCGGTGGGAGCTGGGGCAAAGGTTGTTGCTGCACTTATGGTGGGTGCGTCCTGAGGAACAATTTCTGAGGGCGAGTGCCCACTGGCTGTGAA
GGAAGAACCTGGGGTGGTGACTGTCTTGGTGTCAGTCATGGGGKAGACGGACCTCGTGGTTTGTGATTCTTGTGTGGTCTGCGGGGCTTGAGTGTGACCC
CTTTGGGAAACAGCTGGTGATTCCTGAGGAGAGGTGCTTGTGGAATGTATTGTTGAATGATTTGTTGATGGTGCCGTTGTAATTTGTTGKGATGTGTGTC
TATCCAGCATAGGTGAAGAAGATGGGGATGTGGCCGTTTTTATCATCTGAGTCACACTGTAGCTTGGGCTGCTGAGAAGAGCCTCTCCAGTGGTCCCCGT
TTCTTGTGTCCATTGTGTCTGGGCGCCTGCCCCTGTTGTTTTTGGGAGAGTTGTGCTGTGGGAGGAGTATGTGGTGGGCTCTCCTGGTTCCCCTATTGCT
GAGACCTTAGAGGGGACCCTTGGAATAGTGCCAGCTGYCCCTGTAGATGGATTTCCTGTGACAAGCCTAGTGGCAGCACCTGTTGATGTTGAGGGCAGTT
CTGTTTGTGACCAAGTTGTGTGGCCTTTGCTGGAGAATGAGGAAGGCCATGTTGTTGTTTCATGTAGAGTAAATATTTCTTGAGACACACCTGGAGAGAA
TGAGCTCCTCTCATGAGGCYGTCCTGTGGTCTCTGCACCTTCACTCTGCTGGGTGTGGAAAGCTGTGGATATTTTTGGAGGTARAGAACTGGGGGAGAGT
GCTGTTGACAGAGTGTCTGACCACCATATGGTTGAAACTTTGGAAGTGATTGCAGAAATGGTTCCACTTACAGATAGTGATGTCTCCTCTGTGTTTCCAA
GAGTAGAGTCTCTGGAGRTTGGCATTCTGAACACCTTTGATGTTACCAGGAATGTATTGCTGACACTGGAAGGGGATGAGRTGGTTGTTTCACCAGAAGG
GAATGTCTCCTGAGAAACTGTTCCACTTGGGTTGAATCCACTTGGTGAGGATAAAACAGTTGATGTTGTAACCGGTGTGAGGGTGTTGAGGGTGTTGATT
TGAGATACTCTGGTGGTCTCCACGCTCTGAGTCTGGTGGTTCTTAGAAAAAGCTGTTGTGTCCTGAGKAGAAGTCCTTGAGAAAGTTGCTGGTGATTGTC
CTTCTGGATCAAMTGTTACTAAGGCTGCTGAGGTGACTGGCATAAGACTTCCAGTAACAGGTACTGATGATGTCTCCCCTGGGTTTCCAAGAGTGGAGCC
TGTGGAGGTTGTCACTGTTATCTTCTCTGATGTCATCATGGATGTGTTTGTGACACTACAGAGGGATGAGGTAGCTGTTTCACCTGAAGGAGATGTCTTC
TGAGAAACAGTCCCTGTCACATTGTGTACACTTGGAGAGAAAGAAGGAGTTGAAGTGGTTCTGTGTGTTAGGGTGCTGGTTTGAGATTCCCTGGTGGTCT
GCGTGCTCCGAGTCCAGTGGTTCTGAGAAGAAGCTGATGTGTCTTGGATAGAGGTCCTCCAGGAAGTTKTTCGTGATTGTCCTTCCTGTCCAGCTGTTAT
TGAGACTGCTGAGGTCACTGGGGTAGAACTTTCAGTTCCTGCTGTTGATGTCTCTTCTGTGTTTCCAAGAGTGGAGTCTGTGGAGGTTGTCATTGTTATA
GTCTTTGATGTCATCATGAGTGTGTTGGTGACACTGGAGGGAAATGATGTGGTCATTTCATCTGGAGGAGCTGTCTCCTGCGTAACAGTCTCCATCACAT
TGTGTACACTTGGGGAAGAAAAAAGAGTTGATGTCATCATCTGCGTGAGGGTGTCGGTTTGAGCTTTGCTGGTGGTCTCCGTGCTCTTAGTCTGGTGGTT
CTGAGATGAAGCTGATATGTCCTGATTAGAGGTCCTTGAAGAAGCTGCAGTTGATTGTCCCTCTAGTGTCGCTGTTGTTGAGCCTGTTGAGGTGACTGGG
GCAGSAGTTTTACTTCCAGTTATTAATGTGTCCTCTGTGGTTCCTGGAACCACATGCGGAAGGAGGCAGAGACACAGGCAGCTCAGGGACACCCAGGGGA
CCCTCCTCCAGCGTGCCCCCTTCATGGCTGCGGCAAAAGTCCCCCTGGCTCCCTGGGGAAGCTCCACGGCCCAGCAGCTGCAGTGTGAGGAGCAGACGTG
AGCCCGTCCCCTCAGGCGGCTGGCCCGAACCAAGTGCGTTTCTCCGAAGGGGCCAGGGAACCTGGGAAGAGGACAAAAGAGGGCGGGGCCCCACGCTAAT
CACCCTTTTCTCTCCTCAGCCCCACCCCACTACCCCACCAGGAAAGAAAACACCGATACACCCGTTGCTCTGCTTCTCATCAGCCTGAGCTGAGTGGCGG
GAGGGATGGGAGGAGACATGGGGGAATGGGAACAGGTCACACTGGAAATGGGTGGGCCACCCTCCTAGCCGGGTTCCTGGGTCCTCTCCTCCCTCCCCAG
GGGCTGCCCCTGTCCCACCAGAGCTTTGGGCTGCTGGGAAGAATGGGGAAGAAAGGGCCCCAGAGGGAGCGACCTTGGGGCTGTA

Protein Sequence    (SEQ ID NO:741):
LSLEGFDENLVVSPEVDIPSLPEGVVPLAPDEEGVAVPAEVVRDPEEAGSLVCVCPEASVLSAWWVWVMAAAVSGEVLAEADVHCPSGPPGVDTTELARV
RAPVLESDVPPEGPRVASWLLGAACSAVVGAWVV


SNP Information

Context             (SEQ ID NO:2197):
GTGGCCTTTGCTGGAGAATGAGGAAGGCCATGTTGTTGTTTCATGTAGAGTAAATATTTCTTGAGACACACCTGGAGAGAATGAGCTCCTCTCATGAGGC
Y
GTCCTGTGGTCTCTGCACCTTCACTCTGCTGGGTGTGGAAAGCTGTGGATATTTTTGGAGGTAGAGAACTGGGGGAGAGTGCTGTTGACAGAGTGTCTGA
Celera SNP ID:            hCV29195679
SNP Position Transcript:  1620
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2198):
TATGGTGGGTGCGTCCTGAGGAACAATTTCTGAGGGCGAGTGCCCACTGGCTGTGAAGGAAGAACCTGGGGTGGTGACTGTCTTGGTGTCAGTCATGGGG
K
AGACGGACCTCGTGGTTTGTGATTCTTGTGTGGTCTGCGGGGCTTGAGTGTGACCCCTTTGGGAAACAGCTGGTGATTCCTGAGGAGAGGTGCTTGTGGA
Celera SNP ID:            hCV27511356
SNP Position Transcript:  1044
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,22|G,1475)   total(G,1475|T,22) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2199):
CCTGGTGTTGACACTACAGAGTTGGCCAGAGTAAGGGCACCTGTTTTGGAAAGTGACGTGCCTCCTGAGGGCCCCAGGGTGGCATCATGGCTGCTGGGTG
Y
TGCCTGCAGTGCTGTGGTCGGGGCCTGGGTTGTGTGACCATCCCCGGTGGGAGCTGGGGCAAAGGTTGTTGCTGCACTTATGGTGGGTGCGTCCTGAGGA
Celera SNP ID:            hCV27473348
SNP Position Transcript:  865
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,135|C,1326)   total(C,1326|T,135) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:741, 123, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:2200):
AGGAAGAGGGGTGGCGTTGCTGATGAGGGCCGTGGTGAAGGTTTTACCAGACCCTGAAGGTGACAGAGTGTGGGTCTGGGTTTGTGGAGATGTAAGCCCA
S
TGGATGTGATCGATGGAGGTGTGGGTGGGACTGTTGAGAAGGTGTCGGTTGCCTGGGACGCCAGGCTGATAGTGTCAGACCCTCTGCTGGTTCTTGTCCT
Celera SNP ID:            hCV26667372
SNP Position Transcript:  177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 PUTATIVE UTR 5
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2201):
GATGAAGCTGATATGTCCTGATTAGAGGTCCTTGAAGAAGCTGCAGTTGATTGTCCCTCTAGTGTCGCTGTTGTTGAGCCTGTTGAGGTGACTGGGGCAG
S
AGTTTTACTTCCAGTTATTAATGTGTCCTCTGTGGTTCCTGGAACCACATGCGGAAGGAGGCAGAGACACAGGCAGCTCAGGGACACCCAGGGGACCCTC
Celera SNP ID:            hCV27456767
SNP Position Transcript:  2905
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2202):
GACACACCTGGAGAGAATGAGCTCCTCTCATGAGGCCGTCCTGTGGTCTCTGCACCTTCACTCTGCTGGGTGTGGAAAGCTGTGGATATTTTTGGAGGTA
R
AGAACTGGGGGAGAGTGCTGTTGACAGAGTGTCTGACCACCATATGGTTGAAACTTTGGAAGTGATTGCAGAAATGGTTCCACTTACAGATAGTGATGTC
Celera SNP ID:            hCV11976023
SNP Position Transcript:  1684
SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(T,7|C,49)   Chinese(T,0|C,20)   Japanese(T,3|C,37)   Tfrican(T,19|C,41)      total(C,147|T,29) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)   JBIC-allele(T,71|C,660)   total(C,660|T,71)   Caucasian(T,7|C,49)   Tfrican-Tmerican(T,19|C,41)   no_pop(T,-|C,-)   Tsians(T,3|C,57)   total(C,147|T,29)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2203):
TGACCACCATATGGTTGAAACTTTGGAAGTGATTGCAGAAATGGTTCCACTTACAGATAGTGATGTCTCCTCTGTGTTTCCAAGAGTAGAGTCTCTGGAG
R
TTGGCATTCTGAACACCTTTGATGTTACCAGGAATGTATTGCTGACACTGGAAGGGGATGAGATGGTTGTTTCACCAGAAGGGAATGTCTCCTGAGAAAC
Celera SNP ID:            hCV26667378
SNP Position Transcript:  1818
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)   Caucasian(C,13|T,71)   Tfrican-Tmerican(C,12|T,72)   no_pop(T,-|C,-)   Tsians(C,14|T,64)   total(C,39|T,207)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2204):
GAGTGTGACCCCTTTGGGAAACAGCTGGTGATTCCTGAGGAGAGGTGCTTGTGGAATGTATTGTTGAATGATTTGTTGATGGTGCCGTTGTAATTTGTTG
K
GATGTGTGTCTATCCAGCATAGGTGAAGAAGATGGGGATGTGGCCGTTTTTATCATCTGAGTCACACTGTAGCTTGGGCTGCTGAGAAGAGCCTCTCCAG
Celera SNP ID:            hCV27455332
SNP Position Transcript:  1190
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)   JBIC-allele(C,271|A,1222)   total(C,271|A,1222) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2205):
TGTCTCCTCTGTGTTTCCAAGAGTAGAGTCTCTGGAGATTGGCATTCTGAACACCTTTGATGTTACCAGGAATGTATTGCTGACACTGGAAGGGGATGAG
R
TGGTTGTTTCACCAGAAGGGAATGTCTCCTGAGAAACTGTTCCACTTGGGTTGAATCCACTTGGTGAGGATAAAACAGTTGATGTTGTAACCGGTGTGAG
Celera SNP ID:            hCV9712022
SNP Position Transcript:  1881
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,232|T,1047)   total(C,232|T,1047)no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2206):
TAGGGTGCTGGTTTGAGATTCCCTGGTGGTCTGCGTGCTCCGAGTCCAGTGGTTCTGAGAAGAAGCTGATGTGTCTTGGATAGAGGTCCTCCAGGAAGTT
K
TTCGTGATTGTCCTTCCTGTCCAGCTGTTATTGAGACTGCTGAGGTCACTGGGGTAGAACTTTCAGTTCCTGCTGTTGATGTCTCTTCTGTGTTTCCAAG
Celera SNP ID:            hCV2394241
SNP Position Transcript:  2469
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2207):
GTGGTCTCCACGCTCTGAGTCTGGTGGTTCTTAGAAAAAGCTGTTGTGTCCTGAGTAGAAGTCCTTGAGAAAGTTGCTGGTGATTGTCCTTCTGGATCAA
M
TGTTACTAAGGCTGCTGAGGTGACTGGCATAAGACTTCCAGTAACAGGTACTGATGATGTCTCCCCTGGGTTTCCAAGAGTGGAGCCTGTGGAGGTTGTC
Celera SNP ID:            hCV9712023
SNP Position Transcript:  2113
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2208):
GTAACCGGTGTGAGGGTGTTGAGGGTGTTGATTTGAGATACTCTGGTGGTCTCCACGCTCTGAGTCTGGTGGTTCTTAGAAAAAGCTGTTGTGTCCTGAG
K
AGAAGTCCTTGAGAAAGTTGCTGGTGATTGTCCTTCTGGATCAACTGTTACTAAGGCTGCTGAGGTGACTGGCATAAGACTTCCAGTAACAGGTACTGAT
Celera SNP ID:            hCV27497283
SNP Position Transcript:  2068
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Context             (SEQ ID NO:2209):
GTTTTTGGGAGAGTTGTGCTGTGGGAGGAGTATGTGGTGGGCTCTCCTGGTTCCCCTATTGCTGAGACCTTAGAGGGGACCCTTGGAATAGTGCCAGCTG
Y
CCCTGTAGATGGATTTCCTGTGACAAGCCTAGTGGCAGCACCTGTTGATGTTGAGGGCAGTTCTGTTTGTGACCAAGTTGTGTGGCCTTTGCTGGAGAAT
Celera SNP ID:            hCV16269689
SNP Position Transcript:  1438
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(A,164|G,767)   total(G,767|A,164)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:741, None   



Gene Number:                 22
Celera Gene:                 hCG1645854 - 79000076155139
Celera Transcript:           hCT1645981 - 79000076155140
Public Transcript Accession: 
Celera Protein:              hCP1608362 - 197000064954011
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(8690601..8701840)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:45):
ATGTTGCGGTTGGTGGCAGCTTGCCCTGAGTCATGTGTGGTGTGCACCAAAGATGTAACCCTCTGTCACCAGCTAACCTATATAGTAGCAGCCCCTATGA
CCACGAGGGTTTTAATCATCACCGATGGATATCTCTCCTCTATTGAGAGCACAAACCTGTCTCTCTTGTTTAATCTTGCCCTGCTCTCCCTAAGCAGAAA
TGGTATCGAGGATGTTCAGGAAGATGCCCTGCATGGSCTTACGATGTTGCGGACCTTGTTGCTGGAGCACAACCAAATATCCAGCTCTTCGCTCACTGAT
CACACCTTCAGCAAGCTTCACAGCCTGCAGGTACTGGTGCTGAGCAATAATGCTCTCCGCACCCTACRAGGGTCTTGGTTCCGAAACACAAGCGGCCTGA
CCCGGCTCCAGCTGGATGGGAATCAGATTACTAATCTCACAGACAGTTCTTTCGGAGGCASGAATCTCCACAGTCTCAGGTATCTGGATTTATCCAACAA
TTTTATTTCCTACATTGGGAAAGATGCCTTCCGGCCCCTGCCTCAACTACAGGAAGTGGACCTTTCCYGAAATAGGTTAGCCCACATGCCGGATGTGTTT
ACTCCACTGAAGCAGTTAATCCTTCTGAGYTTAGATAAGAACCAGTGGAGCTGCACTTGTGATCTCCATCCCCTTGCTCGGTTTTTAAGAAACTACATTA
AGTCTTCTGCTCACACGCTCAGGAATGCCAAGGACCTAAATTGCCAGCCATCTACCGCAGCTGTGGCAGCTGCACAGAGTGTGCTGAGGCTGTCTGAGAC
CAACTGTGATTCCAAAGCTCCCAACTTCACTCTGGTTCTAAAGGACAGAAGTCCCCTCCTCCCAGGACCAGATGTGGCCCTGCTGACTGTCCTTGGCTTC
GCAGGAGCTGTTGGTCTCACTTGCCTAGGTTTAGTTGTATTTAACTGGAAACTCCACCAAGGCAAAGCAAATGAACACACATCAGAAAACCTTTGTTGCA
GAACCTTCGATGAACCCCTGTGTGCTCATGAGGCAAGAAATTACCACACTAAGGGATACTGCAACTGCCACTTAACTCAGGAAAACGAGATAAAGGTCAT
GTCCAYTGTGGGGTCCAGAAAAGAAATGCCACTTTTACAGGAAAATAGCCATCAAGYAACATCGGCCTCTGAGTCTGCAACCCTTGACRGATCATTTAKA
AACCTGAAAAAGAAAGACCGTGGGGTAGGCAGCACTTTATTTTGCCAGGATGGTAGATTGCTGCATTCGGAATGTTCAGAGCCTCCTGGAAATATGASAG
CTTTTAATGAAGCAGGCTTACTTACAACATATAATCCAAGGAAAGTTCAAAAGCTATGGAATCTTGAGCCTGGAGAAGTCCAGCCTCAAACTCTGCAACA
CCATATAATAAGAACAGAAGATATCAGCAGTGACATATTTAGAAGAAGATATGCAACAMCCGCTTCAGCCTTGGCAGRAGAAAGTCTTGAGAAGCGTTTA
ACAAATGAATCA

Protein Sequence    (SEQ ID NO:742):
MLRLVAACPESCVVCTKDVTLCHQLTYIVAAPMTTRVLIITDGYLSSIESTNLSLLFNLALLSLSRNGIEDVQEDALHGLTMLRTLLLEHNQISSSSLTD
HTFSKLHSLQVLVLSNNALRTLRGSWFRNTSGLTRLQLDGNQITNLTDSSFGGTNLHSLRYLDLSNNFISYIGKDAFRPLPQLQEVDLSRNRLAHMPDVF
TPLKQLILLSLDKNQWSCTCDLHPLARFLRNYIKSSAHTLRNAKDLNCQPSTAAVAAAQSVLRLSETNCDSKAPNFTLVLKDRSPLLPGPDVALLTVLGF
AGAVGLTCLGLVVFNWKLHQGKANEHTSENLCCRTFDEPLCAHEARNYHTKGYCNCHLTQENEIKVMSIVGSRKEMPLLQENSHQATSASESATLDRSFR
NLKKKDRGVGSTLFCQDGRLLHSECSEPPGNMRAFNEAGLLTTYNPRKVQKLWNLEPGEVQPQTLQHHIIRTEDISSDIFRRRYATPASALAGESLEKRL
TNES


SNP Information

Context             (SEQ ID NO:2210):
ATGTCCATTGTGGGGTCCAGAAAAGAAATGCCACTTTTACAGGAAAATAGCCATCAAGCAACATCGGCCTCTGAGTCTGCAACCCTTGACAGATCATTTA
K
AAACCTGAAAAAGAAAGACCGTGGGGTAGGCAGCACTTTATTTTGCCAGGATGGTAGATTGCTGCATTCGGAATGTTCAGAGCCTCCTGGAAATATGAGA
Celera SNP ID:            hCV8909398
SNP Position Transcript:  1199
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 400, (R,AGA)   (I,ATA)      



Context             (SEQ ID NO:2211):
GTCCAGCCTCAAACTCTGCAACACCATATAATAAGAACAGAAGATATCAGCAGTGACATATTTAGAAGAAGATATGCAACACCCGCTTCAGCCTTGGCAG
R
AGAAAGTCTTGAGAAGCGTTTAACAAATGAATCA
Celera SNP ID:            hCV25642245
SNP Position Transcript:  1478
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,1|G,35)   total(A,4|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 493, (E,GAA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,234|G,1266)   total(G,1266|A,234) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 493, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:2212):
GATAAAGGTCATGTCCATTGTGGGGTCCAGAAAAGAAATGCCACTTTTACAGGAAAATAGCCATCAAGCAACATCGGCCTCTGAGTCTGCAACCCTTGAC
R
GATCATTTAGAAACCTGAAAAAGAAAGACCGTGGGGTAGGCAGCACTTTATTTTGCCAGGATGGTAGATTGCTGCATTCGGAATGTTCAGAGCCTCCTGG
Celera SNP ID:            hCV2332906
SNP Position Transcript:  1189
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,11)   caucasian(A,19|G,15)   total(A,38|G,26)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 397, (R,AGA)   (G,GGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 397, (R,AGA)   (G,GGA)      397, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:2213):
CCTCTATTGAGAGCACAAACCTGTCTCTCTTGTTTAATCTTGCCCTGCTCTCCCTAAGCAGAAATGGTATCGAGGATGTTCAGGAAGATGCCCTGCATGG
S
CTTACGATGTTGCGGACCTTGTTGCTGGAGCACAACCAAATATCCAGCTCTTCGCTCACTGATCACACCTTCAGCAAGCTTCACAGCCTGCAGGTACTGG
Celera SNP ID:            hCV25642270
SNP Position Transcript:  237
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,28)   caucasian(G,40)   total(C,2|G,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:742, 79, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:2214):
TTCGATGAACCCCTGTGTGCTCATGAGGCAAGAAATTACCACACTAAGGGATACTGCAACTGCCACTTAACTCAGGAAAACGAGATAAAGGTCATGTCCA
Y
TGTGGGGTCCAGAAAAGAAATGCCACTTTTACAGGAAAATAGCCATCAAGCAACATCGGCCTCTGAGTCTGCAACCCTTGACAGATCATTTAGAAACCTG
Celera SNP ID:            hCV2332907
SNP Position Transcript:  1106
SNP Source:               Applera
Population(Allele,Count): african american(T,20)   caucasian(C,1|T,7)   total(C,1|T,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 369, (T,ACT)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,25)   caucasian(C,8|T,14)   total(C,9|T,39)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 369, (T,ACT)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 369, (T,ACT)   (I,ATT)      369, (I,ATT)   (T,ACT)      



Context             (SEQ ID NO:2215):
CACAACCAAATATCCAGCTCTTCGCTCACTGATCACACCTTCAGCAAGCTTCACAGCCTGCAGGTACTGGTGCTGAGCAATAATGCTCTCCGCACCCTAC
R
AGGGTCTTGGTTCCGAAACACAAGCGGCCTGACCCGGCTCCAGCTGGATGGGAATCAGATTACTAATCTCACAGACAGTTCTTTCGGAGGCACGAATCTC
Celera SNP ID:            hCV25760722
SNP Position Transcript:  368
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,21)   caucasian(A,1|G,27)   total(A,4|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 123, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:2216):
ACCCTACGAGGGTCTTGGTTCCGAAACACAAGCGGCCTGACCCGGCTCCAGCTGGATGGGAATCAGATTACTAATCTCACAGACAGTTCTTTCGGAGGCA
S
GAATCTCCACAGTCTCAGGTATCTGGATTTATCCAACAATTTTATTTCCTACATTGGGAAAGATGCCTTCCGGCCCCTGCCTCAACTACAGGAAGTGGAC
Celera SNP ID:            hCV25642271
SNP Position Transcript:  461
SNP Source:               Applera
Population(Allele,Count): african american(C,20|G,4)   caucasian(C,35|G,1)   total(C,55|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 154, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:2217):
GAATCTTGAGCCTGGAGAAGTCCAGCCTCAAACTCTGCAACACCATATAATAAGAACAGAAGATATCAGCAGTGACATATTTAGAAGAAGATATGCAACA
M
CCGCTTCAGCCTTGGCAGGAGAAAGTCTTGAGAAGCGTTTAACAAATGAATCA
Celera SNP ID:            hCV25642256
SNP Position Transcript:  1459
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 487, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:2218):
TACTGCAACTGCCACTTAACTCAGGAAAACGAGATAAAGGTCATGTCCATTGTGGGGTCCAGAAAAGAAATGCCACTTTTACAGGAAAATAGCCATCAAG
Y
AACATCGGCCTCTGAGTCTGCAACCCTTGACAGATCATTTAGAAACCTGAAAAAGAAAGACCGTGGGGTAGGCAGCACTTTATTTTGCCAGGATGGTAGA
Celera SNP ID:            hCV25642257
SNP Position Transcript:  1157
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,38)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 386, (A,GCA)   (V,GTA)   



Context             (SEQ ID NO:2219):
TCCGGCCCCTGCCTCAACTACAGGAAGTGGACCTTTCCCGAAATAGGTTAGCCCACATGCCGGATGTGTTTACTCCACTGAAGCAGTTAATCCTTCTGAG
Y
TTAGATAAGAACCAGTGGAGCTGCACTTGTGATCTCCATCCCCTTGCTCGGTTTTTAAGAAACTACATTAAGTCTTCTGCTCACACGCTCAGGAATGCCA
Celera SNP ID:            hCV25642258
SNP Position Transcript:  630
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:742, 210, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:2220):
AGAAACCTGAAAAAGAAAGACCGTGGGGTAGGCAGCACTTTATTTTGCCAGGATGGTAGATTGCTGCATTCGGAATGTTCAGAGCCTCCTGGAAATATGA
S
AGCTTTTAATGAAGCAGGCTTACTTACAACATATAATCCAAGGAAAGTTCAAAAGCTATGGAATCTTGAGCCTGGAGAAGTCCAGCCTCAAACTCTGCAA
Celera SNP ID:            hCV25757116
SNP Position Transcript:  1298
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,27)   caucasian(G,34)   total(C,3|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 433, (T,ACA)   (R,AGA)   



Context             (SEQ ID NO:2221):
CCACAGTCTCAGGTATCTGGATTTATCCAACAATTTTATTTCCTACATTGGGAAAGATGCCTTCCGGCCCCTGCCTCAACTACAGGAAGTGGACCTTTCC
Y
GAAATAGGTTAGCCCACATGCCGGATGTGTTTACTCCACTGAAGCAGTTAATCCTTCTGAGCTTAGATAAGAACCAGTGGAGCTGCACTTGTGATCTCCA
Celera SNP ID:            hCV25642269
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:742, 190, (R,CGA)   (X,TGA)   



Gene Number:                 23
Celera Gene:                 hCG1646666 - 146000220794531
Celera Transcript:           hCT1646793 - 146000220794532
Public Transcript Accession: 
Celera Protein:              hCP1607937 - 197000064952151
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(1671396..1672714)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:46):
AATGGGGCCATCCTCTAAAGTTTATTTTAGCTTATTTATCCCCCCTTCCTGTCATCTTCYGTGAATCTTCACAACCCAGTGGAGTAAACKGCAGGTGTGA
ACTGTTGAGACACAGGCTCCCACAATGGAGCATTACTGAGGGTTGGGAAGTAATCCAGTCAAATCAAGCTGAAAGACAAAAACTCASGTACAGTTGTATC
AAAATCTTGTGTTGCAATTGACATTTGATGTTCATGAAGTTTTCTGAATGCTTCTTATTTGCCTTTAACTCAAGAACATAAACTTTTGTCTTACCATCTC
TGCAGTGTTGTGTACTTGCAGATAGGCATATGCCTGATGACATGGAGTACAAAGACACAGTATACTTTTGATATTGACATGGTGAGGAGAAAGTGAAATG
ATAGAAAAACAAGGACACATATTTTCTCTTCTGGTATTCCTCCGTGATTTAAATATTAACAGCATATTGTTTATAATTTAATGCAAAAAATATGTGCACT
GACAGCCTATATCTAATTTCTTCTTCCATCCTTCAACAATCTCCGTTTAGATTCTGGTTGGTACTTGGCAGCTCTTCCTTTCCTGCCAGTGTTCAGGCAA
TGATGTATCTTCTGGTCAGTGGGTCCCTCCACATCACCACAAAGACAAGAGAATA

Protein Sequence    (SEQ ID NO:743):
MCTDSLYLISSSILQQSPFRFWLVLGSSSFPASVQAMMYLLVSGSLHITTKTREX


SNP Information

Context             (SEQ ID NO:2222):
AATGGGGCCATCCTCTAAAGTTTATTTTAGCTTATTTATCCCCCCTTCCTGTCATCTTCTGTGAATCTTCACAACCCAGTGGAGTAAAC
K
GCAGGTGTGAACTGTTGAGACACAGGCTCCCACAATGGAGCATTACTGAGGGTTGGGAAGTAATCCAGTCAAATCAAGCTGAAAGACAAAAACTCACGTA
Celera SNP ID:            hCV25742159
SNP Position Transcript:  90
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,3)   caucasian(G,40)   total(G,71|T,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:743, None



Context             (SEQ ID NO:2223):
AACGGCAGGTGTGAACTGTTGAGACACAGGCTCCCACAATGGAGCATTACTGAGGGTTGGGAAGTAATCCAGTCAAATCAAGCTGAAAGACAAAAACTCA
S
GTACAGTTGTATCAAAATCTTGTGTTGCAATTGACATTTGATGTTCATGAAGTTTTCTGAATGCTTCTTATTTGCCTTTAACTCAAGAACATAAACTTTT
Celera SNP ID:            hCV25744904
SNP Position Transcript:  187
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:743, None



Context             (SEQ ID NO:2224):
AATGGGGCCATCCTCTAAAGTTTATTTTAGCTTATTTATCCCCCCTTCCTGTCATCTTC
Y
GTGAATCTTCACAACCCAGTGGAGTAAACGGCAGGTGTGAACTGTTGAGACACAGGCTCCCACAATGGAGCATTACTGAGGGTTGGGAAGTAATCCAGTC
Celera SNP ID:            hCV27032504
SNP Position Transcript:  60
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,8)   total(C,1|T,8) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:743, None   



Gene Number:                 24
Celera Gene:                 hCG1646674 - 104000117902111
Celera Transcript:           hCT1646801 - 104000117902112
Public Transcript Accession: NM_019604
Celera Protein:              hCP1614430 - 197000069365355
Public Protein Accession:    NP_062550
Gene Symbol:                 CRTAM
Protein Name:                class-I MHC-restricted T cell associated molecule
Celera Genomic Axis:         GA_x5YUV32VVY5(32737467..32771524)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:47):
ATGTGGTGGAGAGTTCTCAGCTTGCTGGCATGGTTCCCCTTGCAAGMGGCCTCTCTGACTAACCACACAGAAACCATCACCGTGGAGGAAGGCCAGACGC
TCACTCTAAAGTGTGTCACTTCTCTGAGGAAGAACTCCTCCCTCCAGTGGCTGACCCCCTCAGGGTTCACCATTTTTTTAAATGAGTATCCTGCTTTAAA
AAATTCCAAATACCAGCTTCTTCATCACTCGGMCAATCAGCTCTCCATCACTGTGCCTAACGTAACCCTGCAAGATGAAGGCGTGTACAAGTGCTTACAT
TACAGCGACTCTGTAAGCACAAAGGAAGTGAAAGTGATTGTGCTGGCAACTCCGTTCAAGCCAATCCTGGAAGCTTCAGTTATCAGAAAGCAAAATGGAG
AAGAACATGTTGTACTCATGTGCTCCACCATGAGAAGCAARCCCCCTCCGCAGATAACCTGGCTACTTGGGAATAGCATGGAAGTGTCCGGTGGAACGCT
CCATGAATTTGAAACTGRTGGGAAGAAATGTAATACTACCAGCACTCTCATAATCCACACTTATGGCAAAAATTCAACRGTGGACTGCATTATCCGACAC
AGAGGCCTGCAAGGGAGAAAACTAGTAGCACCCTTCCGGTTTGAAGATTTGGTTACTGATGAAGAGACAGCTTCAGATGCTCTGGAGAGAAACTCTCTAT
CCTCTCAAGACCCACAGCAGCCCACCAGTACTGTCTCAGTAACGGAAGATTCTAGTACATCGGAGATTGACAAGGAAGAGAAAGAACAAACCACTCAAGA
TCCTGACTTGACCACCGAAGCAAATCCTCAGTATTTAGGACTGGCAAGAAAGAAAAGTGGCATCCTGCTGCTCACGCTGGTGTCCTTCCTCATTTTCATA
CTCTTCATCATAGTCCAGCTCTTCATCATGAAGCTGAGGAAAGCACATGTGATATGGAAGARAGAAAACGAAGTTTCAGAACACACACTAGAAAGTTACA
GATCAAGGTCAAATAATGAAGAAACATCATCTGAAGAGAAAAATGGCCAATCTTCCCACCCTATGCGTTGCATGAACTACATCACAAAGTTGTACTCAGA
AGSAAAAACAAAGAGGAAGGAAAAYGTACAACATTCAAAATTAGAAGAAAAGCAMATCCAAGTACCAGAGAGTATTGTGTAGTGCTCTCTGCAATGGAAC
ATGTGATTTCAGGGTTGCCGCAGTGTCAMCTCAGTGGACCAGCCTGGGGGAAGGAGCTTAATTGCTGAGACATTAATAATGACCTCTTAGTGCAATGCAA
GATGGTGTCCTCGGATAATGATCTGCCCCGGAGCTAGGGCAGCAACATGAGGACCAAACCATGCACATAAAGCTTGTAGTTTAAAAAAGAAAAGCAAAAA
AATAATTATGCCTGACACTACTTCAGAGCAGGAGGATTCTACGAAGCCTTGGGGATCAGGGTCAGTGTGAGCAGCTAACATCCTACCTCAAATGGAACAG
GAKTTTTTGATGCTTTGCTCTAATGGAACTGTTTTAAAAATTTTTTTTTCTTTTTAATATTTTCTTCTGGTCACAAAATAAAGAAATTTGGGATGCAAAG
TACCTAAAGATCTCTGATCCTAAGAAGTTACTTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGCAGATCACT
TGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTAGTGGTGCGCACCTGTAGTC
TCAGATACTTGGGAGGCTGAGGGTGGAGAATCGCTTGAACCTGGGAGGTGGAGATTGCAGTGAGTCAAGATCTCACCACTGCACTCCAGCCTGGGCGACA
GAGGGAGACTCTGTCTCAAAAAAAAAGAAGTTACTTCCAAGACAGACTTTTAAGATGTAACCAGCACAAAGCAATGTCAGGGAGGAGTGATACATGACAA
TAAATGAGTCAGATGAGCAAGAAGGCCCCAGAACCCATGCCCCAAGGCACAAAGAGGAGCTCAGGGTAGGCCCAAAGATTCGAATTCCTTAGATTACTAA
ATCACATGAGCGGACCTTGTCTGTCAGATAAGATTTTTACCTGGAAATTCCATGACCAATACATGTGCAAAAGAAAATGATGGGTTGAATTTACTGATTA
TTGACCTAATGGATGGCTTTTTAAAATGTTTTAATAAAAAGCAGAATAGATGTTTGTTTTTCTAGTGGTTATACCAAGTTATACTTCCTGTTTTCACGTG
TGAAAGTAACATGGGACATGCCTTTCTTTTCCGATCAGTTTATTTAAGCTATACAGCAAACTTTGGCATTTATGTGGAGCATTTCTCATTGTTGGAATCT
GAATAAACCAATTACAAAATAACA

Protein Sequence    (SEQ ID NO:744):
MWWRVLSLLAWFPLQEASLTNHTETITVEEGQTLTLKCVTSLRKNSSLQWLTPSGFTIFLNEYPALKNSKYQLLHHSANQLSITVPNVTLQDEGVYKCLH
YSDSVSTKEVKVIVLATPFKPILEASVIRKQNGEEHVVLMCSTMRSKPPPQITWLLGNSMEVSGGTLHEFETDGKKCNTTSTLIIHTYGKNSTVDCIIRH
RGLQGRKLVAPFRFEDLVTDEETASDALERNSLSSQDPQQPTSTVSVTEDSSTSEIDKEEKEQTTQDPDLTTEANPQYLGLARKKSGILLLTLVSFLIFI
LFIIVQLFIMKLRKAHVIWKRENEVSEHTLESYRSRSNNEETSSEEKNGQSSHPMRCMNYITKLYSEAKTKRKENVQHSKLEEKHIQVPESIV


SNP Information

Context             (SEQ ID NO:2225):
ATCCTGCTGCTCACGCTGGTGTCCTTCCTCATTTTCATACTCTTCATCATAGTCCAGCTCTTCATCATGAAGCTGAGGAAAGCACATGTGATATGGAAGA
R
AGAAAACGAAGTTTCAGAACACACACTAGAAAGTTACAGATCAAGGTCAAATAATGAAGAAACATCATCTGAAGAGAAAAATGGCCAATCTTCCCACCCT
Celera SNP ID:            hCV15961949
SNP Position Transcript:  962
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,17)   caucasian(A,11|G,23)   total(A,28|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 321, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,669|G,810)   total(G,810|A,669) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 321, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2226):
ATGTGCTCCACCATGAGAAGCAAGCCCCCTCCGCAGATAACCTGGCTACTTGGGAATAGCATGGAAGTGTCCGGTGGAACGCTCCATGAATTTGAAACTG
R
TGGGAAGAAATGTAATACTACCAGCACTCTCATAATCCACACTTATGGCAAAAATTCAACGGTGGACTGCATTATCCGACACAGAGGCCTGCAAGGGAGA
Celera SNP ID:            hCV25643355
SNP Position Transcript:  518
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,36)   total(A,70|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 173, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:2227):
TGGAAGTGTCCGGTGGAACGCTCCATGAATTTGAAACTGATGGGAAGAAATGTAATACTACCAGCACTCTCATAATCCACACTTATGGCAAAAATTCAAC
R
GTGGACTGCATTATCCGACACAGAGGCCTGCAAGGGAGAAAACTAGTAGCACCCTTCCGGTTTGAAGATTTGGTTACTGATGAAGAGACAGCTTCAGATG
Celera SNP ID:            hCV25643356
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,30)   caucasian(G,38)   total(A,4|G,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:744, 193, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2228):
TCAAGGTCAAATAATGAAGAAACATCATCTGAAGAGAAAAATGGCCAATCTTCCCACCCTATGCGTTGCATGAACTACATCACAAAGTTGTACTCAGAAG
S
AAAAACAAAGAGGAAGGAAAATGTACAACATTCAAAATTAGAAGAAAAGCACATCCAAGTACCAGAGAGTATTGTGTAGTGCTCTCTGCAATGGAACATG
Celera SNP ID:            hCV11487869
SNP Position Transcript:  1103
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,40)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 368, (A,GCA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 368, (A,GCA)   (G,GGA)      



Context             (SEQ ID NO:2229):
ATGTGGTGGAGAGTTCTCAGCTTGCTGGCATGGTTCCCCTTGCAAG
M
GGCCTCTCTGACTAACCACACAGAAACCATCACCGTGGAGGAAGGCCAGACGCTCACTCTAAAGTGTGTCACTTCTCTGAGGAAGAACTCCTCCCTCCAG
Celera SNP ID:            hCV25643342
SNP Position Transcript:  47
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,5)   caucasian(A,40)   total(A,73|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 16, (E,GAG)   (A,GCG)   



Context             (SEQ ID NO:2230):
CATCATCTGAAGAGAAAAATGGCCAATCTTCCCACCCTATGCGTTGCATGAACTACATCACAAAGTTGTACTCAGAAGCAAAAACAAAGAGGAAGGAAAA
Y
GTACAACATTCAAAATTAGAAGAAAAGCACATCCAAGTACCAGAGAGTATTGTGTAGTGCTCTCTGCAATGGAACATGTGATTTCAGGGTTGCCGCAGTG
Celera SNP ID:            hCV25643327
SNP Position Transcript:  1125
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,31)   caucasian(C,4|T,34)   total(C,7|T,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:744, 375, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2231):
AACTCCTCCCTCCAGTGGCTGACCCCCTCAGGGTTCACCATTTTTTTAAATGAGTATCCTGCTTTAAAAAATTCCAAATACCAGCTTCTTCATCACTCGG
M
CAATCAGCTCTCCATCACTGTGCCTAACGTAACCCTGCAAGATGAAGGCGTGTACAAGTGCTTACATTACAGCGACTCTGTAAGCACAAAGGAAGTGAAA
Celera SNP ID:            hCV25643344
SNP Position Transcript:  233
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,17)   caucasian(C,40)   total(A,7|C,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 78, (D,GAC)   (A,GCC)   



Context             (SEQ ID NO:2232):
CCCACCCTATGCGTTGCATGAACTACATCACAAAGTTGTACTCAGAAGCAAAAACAAAGAGGAAGGAAAATGTACAACATTCAAAATTAGAAGAAAAGCA
M
ATCCAAGTACCAGAGAGTATTGTGTAGTGCTCTCTGCAATGGAACATGTGATTTCAGGGTTGCCGCAGTGTCACCTCAGTGGACCAGCCTGGGGGAAGGA
Celera SNP ID:            hCV25643328
SNP Position Transcript:  1155
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(A,1|C,39)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:744, 385, (Q,CAA)   (H,CAC)   



Context             (SEQ ID NO:2233):
TAATTATGCCTGACACTACTTCAGAGCAGGAGGATTCTACGAAGCCTTGGGGATCAGGGTCAGTGTGAGCAGCTAACATCCTACCTCAAATGGAACAGGA
K
TTTTTGATGCTTTGCTCTAATGGAACTGTTTTAAAAATTTTTTTTTCTTTTTAATATTTTCTTCTGGTCACAAAATAAAGAAATTTGGGATGCAAAGTAC
Celera SNP ID:            hCV467459
SNP Position Transcript:  1503
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|G,4)   total(G,4|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:744, None   



Context             (SEQ ID NO:2234):
CAACATTCAAAATTAGAAGAAAAGCACATCCAAGTACCAGAGAGTATTGTGTAGTGCTCTCTGCAATGGAACATGTGATTTCAGGGTTGCCGCAGTGTCA
M
CTCAGTGGACCAGCCTGGGGGAAGGAGCTTAATTGCTGAGACATTAATAATGACCTCTTAGTGCAATGCAAGATGGTGTCCTCGGATAATGATCTGCCCC
Celera SNP ID:            hCV25643329
SNP Position Transcript:  1229
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,5|C,35)   total(A,10|C,64)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:744, None



Context             (SEQ ID NO:2235):
TGCTGGCAACTCCGTTCAAGCCAATCCTGGAAGCTTCAGTTATCAGAAAGCAAAATGGAGAAGAACATGTTGTACTCATGTGCTCCACCATGAGAAGCAA
R
CCCCCTCCGCAGATAACCTGGCTACTTGGGAATAGCATGGAAGTGTCCGGTGGAACGCTCCATGAATTTGAAACTGATGGGAAGAAATGTAATACTACCA
Celera SNP ID:            hCV25643354
SNP Position Transcript:  441
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:744, 147, (K,AAA)   (K,AAG)   



Gene Number:                 25
Celera Gene:                 hCG1646681 - 30000053453510
Celera Transcript:           hCT2326617 - 30000053453512
Public Transcript Accession: NM_030956
Celera Protein:              hCP1862205 - 197000069385339
Public Protein Accession:    NP_112218
Gene Symbol:                 TLR10
Protein Name:                toll-like receptor 10
Celera Genomic Axis:         GA_x5YUV32W339(29340260..29350686)
Chromosome:                  Chr4
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:48):
TGTCAACGAATCATCCACGCACCTGCAGCTCTGCTGAGAGAGTGCAAGCCGTGGGAATTCAGCAGCTGAATATCAAGACCTTTGAATTCAACAAGAAGTT
AAGACATTTATAGTTGTCTAACAACAGACTGAAGATTGTGGCTTGGTATTCACTGGCAGGTTTCAGACATTTAGATCTTTCTTTTAATGACTAACACCAT
GCCTATCTGTGGAGAAGCTGGCAACATGTCACACCTGGAAATTGTTTTTCAACATTAATACTATTATTTGGCAGTAATCCAGATTGCTTTTGCCACCAAC
CTGAAGACATATAGAGGCAGAAGGACAGGAATAATTCTATTTGMTTCCTGTTTTGAAACTTCCATCTGTAAGGCTATCAAAAGGAGATGTGAGAGAGGGT
ATTGAGTCTGGCCTGACAATGCAGTTCTTAAACCAAAGGTCCATTATGCTTCTCCTCTCTGAGAATCCTGACTTACCTCAACAACGGAGACATGGCACAG
TAGCCAGCTTGGAGACTTCTCAGCCAATGCTCTGAGATCAAGTCGAAGACCCAATATACAGGGTTTTGAGCTCATCTTCATCATTCATATGAGGAAATAA
GTGGTAAAATCCTTGGAAATACAATGAGACTCATCAGAAACATTTACATATTTTGTAGTATTGTTATGACAGCAGAGGGTGATGCTCCAGAGCTGCCAGA
AGAAAGGGAACTGATGACRAACTGCTCCAACATGTCTCTAAGAAAGGTTCCCGCAGACTTGACCCCAGCCACAACGACACTGGATTTATCCTATAACCTC
CTTTTTCAACTCCAGAGTTCAGATTTTCATTCTGTRTCCAAACTGAGAGTTTTGATTCTATGCCATAACAGAATTCAACAGCTGGATCTCAAAACCTTTG
AATTCAACAAGGAGTTAAGATATTTAGATTTGTCTAATAACAGACTGAAGAGTGTAACTTGGTATTTACTGGCAGGTCTCAGGTATTTAGATCTTTCTTT
TAATGACTTTGACACCATGCCTATCTGTGAGGAAGCTGGCAACATGTCACACKTGGAAATCCTAGGTTTGAGTGGGGCAAAAATACAAAAATCAGATTTC
CAGAAAATTGCTCATCTGCATCTAAATACTGTCTTCTTAGGATTCAGAACTCTTCCTCATTATGAAGAAGGTAGCCTGCCCATCTTAAACACAACAAAAC
TGCACATTGTTTTACCAATGGACACAAATTTCTGGGTTCTTTTGCGTGATGGAATCAAGACTTCAAAAATATTAGAAATGACAAATMTAGATGGCAAAAG
CCAATTTGTAAGTTATGAAATGCAACGAAATCTTAGTTTAGAAAATGCTAAGACATCGGTTCTATTGCTTAATAAAGTTGATTTACTCTGGGACGACCTT
TTCCTTATCTTACAATTTGTTTGGCATACATCAGTGGAACACTTTCAGATCCGAAATRTGACTTTTGGTGGTAARGCTTATCTTGACCACAATTCATTTG
ACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATGYACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAKAT
GGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAAMTCYAATATTTAAATTTTGCCAATAATATC
TTAACAGRCGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCT
TTGCTAACAACACACCCTTGGAACACTTGGATCTGAGTCAAAATCTATYACAACATAAAAATGATGAAAATTGCTCATGGCCAGAAACTGTGGTCAATAT
GAATCTGTCATACAATAAATTGTCTGATTCTGTCTTCAGGTGCTTGCCCAAAAGTATTCAAATACTTGACCTAAATAATAACCYAATCCAAACTGTACCT
AAAGAGACTATTCATCTGATGGCCTTACGAGAACTAAATATTGCATTTAATTTTCTAACTGATCTCCCTGGATGCAGTCATTTCAGTAGACTTTCAGTTC
TGAACATTGAAATGAACTTCATTCTCAGCCCATCTCTGGATTTTGTTCAGAGCTGCCAGGAAGTTAAAACTCTAAATGCGGGAAGAAATCCATTCCGGTG
TACCTGTGAATTAAAAAATTTCATTCAGCTTGAAACATATTCAGAGGTCATGATGGTTGGATGGTCAGATTCATACACCTGTGAATACCCTTTAAACCTA
AGGGGAACTAGGTTAAAAGACGTTCATCTCCACGAATTATCTTGCAACACAGCTCTGTTGATTGTCACCATTGTGGTTATTATGCTAGTTCTGGGGTTGG
CTGTGGCCTTCTGCTGTCTCCACTTTGATCTGCCCTGGTATCTCAGGATGCTAGGTCAATGCACACAAACATGGCACAGGGTTAGGAAAACAACCCAAGA
ACAACTCAAGAGAAATGTCCGATTCCACGCATTTATTTCATACAGTGAACATGATTCTCTGTGGGTGAAGAATGAATTGATCCCCAATCTAGAGAAGGAA
GATGGTTCTATCTTGATTTGCCTTTATGAAAGCTACTTTGACCCTGGCAAAAGCATTAGTGAAAATATTGTAAGCTTCATTGAGAAAAGCTATAAGTCCA
TCTTTGTTTTGTCTCCCAACTTTGTCCAGAATGAGTGYTGCCATTATGAATTCTACTTTGCCCACCACAATCTCTTCCATGAAAATTCTGATCATATAAT
TCTTATCTTACTGGAACCCATTCCATTCTATTGCATTCCCACCAGGTATCATAAACTGAAAGCTCTCCTGGAAAAAAAAGCATACTTGRAATGGCCCAAG
GATAGGCGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCTATTAATGTTAATGTATRAGCCACCAGAGAAATGTATGAACTGCAGACYTTCACAG
AGTTAAATGAAGAGTCTCGAGGTTCTACAATCTCTCTGATGAGAACAGATTGTCTATAAAATCCCACAGTCCTTGGGAAGTTGGGGACCACATACACTGT
TGGGATGTACATTGATACAACCTTTATGATGGCAATTTGACAATATTTATTAAAATAAAAAATGGTTATTCCCTTCATATCAGTTTCTAGAAGGATTTCT
AAGAATGTATCCTATAGAAACACCTTCACAAGTTTATAAGGGCTTATGGAAAAAGGTGTTCATCCCAGGATTGTTTATAATCATGAAAAATGTGGCCAGG
TGCAGTGGCTCACTCTTGTAATCCCAGCACTATGGGAGGCCAAGGTGGGTGACCCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACC
CTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGG
GAGGTGGCAGTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTC

Protein Sequence    (SEQ ID NO:745):
MRLIRNIYIFCSIVMTAEGDAPELPEERELMTNCSNMSLRKVPADLTPATTTLDLSYNLLFQLQSSDFHSVSKLRVLILCHNRIQQLDLKTFEFNKELRY
LDLSNNRLKSVTWYLLAGLRYLDLSFNDFDTMPICEEAGNMSHLEILGLSGAKIQKSDFQKIAHLHLNTVFLGFRTLPHYEEGSLPILNTTKLHIVLPMD
TNFWVLLRDGIKTSKILEMTNIDGKSQFVSYEMQRNLSLENAKTSVLLLNKVDLLWDDLFLILQFVWHTSVEHFQIRNVTFGGKAYLDHNSFDYSNTVMR
TIKLEHVHFRVFYIQQDKIYLLLTKMDIENLTISNAQMPHMLFPNYPTKFQYLNFANNILTDELFKRTIQLPHLKTLILNGNKLETLSLVSCFANNTPLE
HLDLSQNLLQHKNDENCSWPETVVNMNLSYNKLSDSVFRCLPKSIQILDLNNNQIQTVPKETIHLMALRELNIAFNFLTDLPGCSHFSRLSVLNIEMNFI
LSPSLDFVQSCQEVKTLNAGRNPFRCTCELKNFIQLETYSEVMMVGWSDSYTCEYPLNLRGTRLKDVHLHELSCNTALLIVTIVVIMLVLGLAVAFCCLH
FDLPWYLRMLGQCTQTWHRVRKTTQEQLKRNVRFHAFISYSEHDSLWVKNELIPNLEKEDGSILICLYESYFDPGKSISENIVSFIEKSYKSIFVLSPNF
VQNEWCHYEFYFAHHNLFHENSDHIILILLEPIPFYCIPTRYHKLKALLEKKAYLEWPKDRRKCGLFWANLRAAINVNVLATREMYELQTFTELNEESRG
STISLMRTDCL


SNP Information

Context             (SEQ ID NO:2236):
ACTCTCATTTTGAATGGCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTAACAACACACCCTTGGAACACTTGGATCTGAGTCAAAATCTAT
Y
ACAACATAAAAATGATGAAAATTGCTCATGGCCAGAAACTGTGGTCAATATGAATCTGTCATACAATAAATTGTCTGATTCTGTCTTCAGGTGCTTGCCC
Celera SNP ID:            hCV25643380
SNP Position Transcript:  1849
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 428, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:2237):
GAAACTGTGGTCAATATGAATCTGTCATACAATAAATTGTCTGATTCTGTCTTCAGGTGCTTGCCCAAAAGTATTCAAATACTTGACCTAAATAATAACC
Y
AATCCAAACTGTACCTAAAGAGACTATTCATCTGATGGCCTTACGAGAACTAAATATTGCATTTAATTTTCTAACTGATCTCCCTGGATGCAGTCATTTC
Celera SNP ID:            hCV25643390
SNP Position Transcript:  1984
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,39)   total(C,2|T,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 473, (T,ACT)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,37)   total(C,2|T,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 473, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:2238):
GGCCCAAGGATAGGCGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCTATTAATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCAGAC
Y
TTCACAGAGTTAAATGAAGAGTCTCGAGGTTCTACAATCTCTCTGATGAGAACAGATTGTCTATAAAATCCCACAGTCCTTGGGAAGTTGGGGACCACAT
Celera SNP ID:            hCV309083
SNP Position Transcript:  2993
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,22)   caucasian(C,9|T,27)   total(C,11|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 809, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,26)   caucasian(C,9|T,29)   total(C,15|T,55)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 809, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2239):
CTCTAAGAAAGGTTCCCGCAGACTTGACCCCAGCCACAACGACACTGGATTTATCCTATAACCTCCTTTTTCAACTCCAGAGTTCAGATTTTCATTCTGT
R
TCCAAACTGAGAGTTTTGATTCTATGCCATAACAGAATTCAACAGCTGGATCTCAAAACCTTTGAATTCAACAAGGAGTTAAGATATTTAGATTTGTCTA
Celera SNP ID:            hCV25643391
SNP Position Transcript:  836
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,36)   total(A,72|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 90, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,40)   total(A,76|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 90, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:2240):
TGATCATATAATTCTTATCTTACTGGAACCCATTCCATTCTATTGCATTCCCACCAGGTATCATAAACTGAAAGCTCTCCTGGAAAAAAAAGCATACTTG
R
AATGGCCCAAGGATAGGCGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCTATTAATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCA
Celera SNP ID:            hCV309084
SNP Position Transcript:  2889
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,33|G,7)   total(A,70|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 775, (I,ATT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,30)   caucasian(A,33|G,7)   total(A,63|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 775, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(T,-|C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 775, (I,ATT)   (V,GTT)      775, (I,ATT)   (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:2241):
TGTAACTTGGTATTTACTGGCAGGTCTCAGGTATTTAGATCTTTCTTTTAATGACTTTGACACCATGCCTATCTGTGAGGAAGCTGGCAACATGTCACAC
K
TGGAAATCCTAGGTTTGAGTGGGGCAAAAATACAAAAATCAGATTTCCAGAAAATTGCTCATCTGCATCTAAATACTGTCTTCTTAGGATTCAGAACTCT
Celera SNP ID:            hCV25643392
SNP Position Transcript:  1053
SNP Source:               Applera
Population(Allele,Count): african american(G,36|T,2)   caucasian(G,39|T,1)   total(G,75|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 163, (A,GCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,39|T,1)   total(G,72|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 163, (A,GCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,34)   total(G,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 163, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:2242):
ATCGAGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTC
M

Celera SNP ID:            hCV26008455
SNP Position Transcript:  3626
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,4)   total(A,1|C,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:745, None   



Context             (SEQ ID NO:2243):
TTGACCCTGGCAAAAGCATTAGTGAAAATATTGTAAGCTTCATTGAGAAAAGCTATAAGTCCATCTTTGTTTTGTCTCCCAACTTTGTCCAGAATGAGTG
Y
TGCCATTATGAATTCTACTTTGCCCACCACAATCTCTTCCATGAAAATTCTGATCATATAATTCTTATCTTACTGGAACCCATTCCATTCTATTGCATTC
Celera SNP ID:            hCV309085
SNP Position Transcript:  2738
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,28)   caucasian(C,9|T,31)   total(C,17|T,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 724, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,29)   caucasian(C,9|T,31)   total(C,18|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 724, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,18)   caucasian(C,9|T,31)   total(C,15|T,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 724, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:2244):
AAGTTGATTTACTCTGGGACGACCTTTTCCTTATCTTACAATTTGTTTGGCATACATCAGTGGAACACTTTCAGATCCGAAATGTGACTTTTGGTGGTAA
R
GCTTATCTTGACCACAATTCATTTGACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATA
Celera SNP ID:            hCV25473278
SNP Position Transcript:  1475
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,7)   caucasian(A,35|G,5)   total(A,62|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 303, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:2245):
GGATAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAA
M
TCCAATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAA
Celera SNP ID:            hCV309086
SNP Position Transcript:  1671
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,14)   caucasian(A,24|C,14)   total(A,46|C,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 369, (I,ATC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,4)   caucasian(A,16|C,10)   total(A,28|C,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 369, (I,ATC)   (L,CTC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,5)   total(A,5|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 369, (I,ATC)   (L,CTC)      



Context             (SEQ ID NO:2246):
GAATCGCTTGAACCCGGGAGGTGGCAGTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTC
R

Celera SNP ID:            hCV26008456
SNP Position Transcript:  3584
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,4)   total(G,1|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:745, None   



Context             (SEQ ID NO:2247):
GCTCTCCTGGAAAAAAAAGCATACTTGGAATGGCCCAAGGATAGGCGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCTATTAATGTTAATGTAT
R
AGCCACCAGAGAAATGTATGAACTGCAGACATTCACAGAGTTAAATGAAGAGTCTCGAGGTTCTACAATCTCTCTGATGAGAACAGATTGTCTATAAAAT
Celera SNP ID:            hCV25643379
SNP Position Transcript:  2962
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,39)   total(A,1|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 799, (Q,CAA)   (R,CGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,37)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 799, (Q,CAA)   (R,CGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 799, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:2248):
TTGACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAA
K
ATGGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATA
Celera SNP ID:            hCV309087
SNP Position Transcript:  1598
SNP Source:               Applera
Population(Allele,Count): african american(G,28|T,8)   caucasian(G,31|T,9)   total(G,59|T,17)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 344, (P,CCG)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,2)   caucasian(G,20|T,4)   total(G,42|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 344, (P,CCG)   (P,CCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,5)   total(G,5|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 344, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:2249):
AAACACAACAAAACTGCACATTGTTTTACCAATGGACACAAATTTCTGGGTTCTTTTGCGTGATGGAATCAAGACTTCAAAAATATTAGAAATGACAAAT
M
TAGATGGCAAAAGCCAATTTGTAAGTTATGAAATGCAACGAAATCTTAGTTTAGAAAATGCTAAGACATCGGTTCTATTGCTTAATAAAGTTGATTTACT
Celera SNP ID:            hCV309088
SNP Position Transcript:  1287
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,14)   caucasian(A,25|C,15)   total(A,45|C,29)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 241, (N,AAT)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,4)   caucasian(A,7|C,11)   total(A,15|C,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 241, (N,AAT)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 241, (N,AAT)   (H,CAT)      



Context             (SEQ ID NO:2250):
ATACAATGAGACTCATCAGAAACATTTACATATTTTGTAGTATTGTTATGACAGCAGAGGGTGATGCTCCAGAGCTGCCAGAAGAAAGGGAACTGATGAC
R
AACTGCTCCAACATGTCTCTAAGAAAGGTTCCCGCAGACTTGACCCCAGCCACAACGACACTGGATTTATCCTATAACCTCCTTTTTCAACTCCAGAGTT
Celera SNP ID:            hCV25474567
SNP Position Transcript:  719
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,28)   caucasian(G,32)   total(A,6|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 51, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,1|G,35)   total(A,3|G,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:745, 51, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2251):
GGTTCTATTGCTTAATAAAGTTGATTTACTCTGGGACGACCTTTTCCTTATCTTACAATTTGTTTGGCATACATCAGTGGAACACTTTCAGATCCGAAAT
R
TGACTTTTGGTGGTAAGGCTTATCTTGACCACAATTCATTTGACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATGTACATTTCAGAGTGTT
Celera SNP ID:            hCV25643404
SNP Position Transcript:  1458
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 298, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:2252):
TTTCAGATCCGAAATGTGACTTTTGGTGGTAAGGCTTATCTTGACCACAATTCATTTGACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATG
Y
ACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACAC
Celera SNP ID:            hCV25643406
SNP Position Transcript:  1543
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,1|T,39)   total(C,2|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 326, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2253):
TAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTC
Y
AATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAAACT
Celera SNP ID:            hCV25643407
SNP Position Transcript:  1674
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,1)   caucasian(C,24)   total(C,41|T,1)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 370, (Q,CAA)   (X,TAA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 370, (Q,CAA)   (X,TAA)   



Context             (SEQ ID NO:2254):
GAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACAG
R
CGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTAAC
Celera SNP ID:            hCV25643418
SNP Position Transcript:  1708
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:745, 381, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:2255):
GTTTTTCAACATTAATACTATTATTTGGCAGTAATCCAGATTGCTTTTGCCACCAACCTGAAGACATATAGAGGCAGAAGGACAGGAATAATTCTATTTG
M
TTCCTGTTTTGAAACTTCCATCTGTAAGGCTATCAAAAGGAGATGTGAGAGAGGGTATTGAGTCTGGCCTGACAATGCAGTTCTTAAACCAAAGGTCCAT
Celera SNP ID:            hCV27964597
SNP Position Transcript:  344
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:745, None   



Gene Number:                 25
Celera Gene:                 hCG1646681 - 30000053453510
Celera Transcript:           hCT1646808 - 30000053453506
Public Transcript Accession: NM_030956
Celera Protein:              hCP1619252 - 197000069385340
Public Protein Accession:    NP_112218
Gene Symbol:                 TLR10
Protein Name:                toll-like receptor 10
Celera Genomic Axis:         GA_x5YUV32W339(29340260..29350686)
Chromosome:                  Chr4
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:49):
TGTCAACGAATCATCCACGCACCTGCAGCTCTGCTGAGAGAGTGCAAGCCGTGGGGGTTTTGAGCTCATCTTCATCATTCATATGAGGAAATAAGTGGTA
AAATCCTTGGAAATACAATGAGACTCATCAGAAACATTTACATATTTTGTAGTATTGTTATGACAGCAGAGGGTGATGCTCCAGAGCTGCCAGAAGAAAG
GGAACTGATGACCAACTGCTCCAACATGTCTCTAAGAAAGGTTCCCGCAGACTTGACCCCAGCCACAACRACACTGGATTTATCCTATAACCTCCTTTTT
CAACTCCAGAGTTCAGATTTTCATTCTGTCTCCAAACTGAGAGTTTTGATTCTATGCCATAACAGAATTCAACAGCTGGATCTCAARACCTTTGAATTCA
ACAAGGAGTTAAGATATTTAGATTTGTCTAATAACAGACTGAAGAGTGTAACTTGGTATTTACTGGCAGGTCTCAGGTATTTAGATCTTTCTTTTAATGA
CTTTGACACCATGCCTATCTGTGAGGAAGCTGGCAACATGTCACACCTGGAAATCCTAGGTTTGAGTGGGGCAAAAATACAAAAATCAGATTTCCAGAAA
ATTKCTCATCTGCATCTAAATACTGTCTTCTTAGGATTCAGAACTCTTCCTCATTATGAAGAAGGTAGCCTGCCCATCTTAAACACAACAAAACTGCACA
TTGTTTTACCAATGGACACAAATTTCTGGGTTCTTTTGCGTGATGGAATCAAGACTTCAAAAATATTAGAAATGACAAATATAGATGGCAAAAGCCAATT
TGTAAGTTATGAAATGCAACGAAATCTTAGTTTAGAAMATGCTAAGACATCGGTTCTATTGCTTAATAAAGTTGATTTACTCTGGGACGACCTTTTCCTT
ATCTTACAATTTGTTTGGCATACATCAGTGGAACACTTTCAGATCCGAAATGTGACTTTTGGTGGTAAGGCTTATCTTGACCACAATTCATTTGACTACT
CAAATACTRTAATGAGAACTATAAARTTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAAYGGACAT
AGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCKAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACA
GACGAGTTGTTTAAAAGAACTMTCYAACTGCCTCACTTGAAAACTCTCATTTTGAATGRCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTA
ACAACACACCCTTGGAACACTTGGATCTGAGTCAAAATCTATTACAACATAAAAATGATGAAAATTGCTCATGGCCAGAAACTGTGGTCAATATGAATCY
GTCATACAATAAATTGTCTGATTCTGTCTTCAGGTGCTTGCCCAAAAGTATTCAAATACTTGACCTAAATAATAACCAAATCCAAACTGTACCTAAAGAG
ACTATTCATCTGATGGCCTTACGAGAACTAAATAYTGCATTTAATTTTCTAACTGATCTCCCTGGATGCAGTCATTTCAGTAGACTTTCAGTTCTGAACA
TTGAAATGAACTTCATTCTCAGCCCATCTCTGGATTTTGTTCAGAGCTGCCAGGAAGTTAAAACTCTAAATGCGGGAAGAAATCCATTCCGGTGTACCTG
TGAATTAAAAAATTTCATTCAGCTTGAAACATATTCAGAGGTCATGATGGTTGGATGGTCAGATTCATACACCTGTGAATACCCTTTAAACCTAAGGGGA
ACTAGGTTAAAAGACGTTCATCTCCACGAATTATCTTGCAACACAGCTCTGTTGATTGTCACCATTGTGGTTATTATGCTAGTTCTGGGGTTGGCTGTGG
CCTTCTGCTGTCTCCACTTTGATCTGCCCTGGTATCTCAGGATGCTAGGTCAATGCACACAAACATGGCACAGGGTTAGGAAAACAACCCAAGAACAACT
CAAGAGAAATGTCCGATTCCACGCATTTATTTCATACAGTGAACATGATTCTCTGTGGGTGAAGAATGAATTGATCCCCAATCTAGAGAAGGAAGATGGT
TCTATCTTGATTTGCCTTTATGAAAGCTACTTTGACCCTGGCAAAAGCATTAGTGAAAATATTGTAAGCTTCATTGAGAAAAGCTATAAGTCCATCTTTG
TTTTGTCTCCCAACTTTGTCCAGAATGAGTGGTGCCATTATGAATTCTACTTTGCCCACCACAATCTCTTCCATGAAAATTCTGATCAYATAATTCTTAT
CTTACTGGAACCCATTCCATTCTATTGCATTCCCACCAGGTATCATAAACTGAAAGCTCTCCTGGAAAAAAAAGCATACTTGGAATGGCCCAAGGATAGG
CGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCTRTTAATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCAGACATTCACAGAGTTAA
ATGAAGAGTCTCRAGGTTCTACAATCTCTCTGATGAGAACAGAYTGTCTATAAAATCCCACAGTCCTTGGGAAGTTGGGGACCACATACACTGTTGGGAT
GTACATTGATACAACCTTTATGATGGCAATTTGACAATATTTATTAAAATAAAAAATGGTTATTCCCTTCATATCAGTTTCTAGAAGGATTTCTAAGAAT
GTATCCTATAGAAACACCTTCACAAGTTTATAAGGGCTTATGGAAAAAGGTGTTCATCCCAGGATTGTTTATAATCATGAAAAATGTGGCCAGGTGCAGT
GGCTCACTCTTGTAATCCCAGCACTATGGGAGGCCAAGGTGGGTGACCCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCTGTCT
CTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTG
GCAGTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTC

Protein Sequence    (SEQ ID NO:746):
MRLIRNIYIFCSIVMTAEGDAPELPEERELMTNCSNMSLRKVPADLTPATTTLDLSYNLLFQLQSSDFHSVSKLRVLILCHNRIQQLDLKTFEFNKELRY
LDLSNNRLKSVTWYLLAGLRYLDLSFNDFDTMPICEEAGNMSHLEILGLSGAKIQKSDFQKIAHLHLNTVFLGFRTLPHYEEGSLPILNTTKLHIVLPMD
TNFWVLLRDGIKTSKILEMTNIDGKSQFVSYEMQRNLSLENAKTSVLLLNKVDLLWDDLFLILQFVWHTSVEHFQIRNVTFGGKAYLDHNSFDYSNTVMR
TIKLEHVHFRVFYIQQDKIYLLLTKMDIENLTISNAQMPHMLFPNYPTKFQYLNFANNILTDELFKRTIQLPHLKTLILNGNKLETLSLVSCFANNTPLE
HLDLSQNLLQHKNDENCSWPETVVNMNLSYNKLSDSVFRCLPKSIQILDLNNNQIQTVPKETIHLMALRELNIAFNFLTDLPGCSHFSRLSVLNIEMNFI
LSPSLDFVQSCQEVKTLNAGRNPFRCTCELKNFIQLETYSEVMMVGWSDSYTCEYPLNLRGTRLKDVHLHELSCNTALLIVTIVVIMLVLGLAVAFCCLH
FDLPWYLRMLGQCTQTWHRVRKTTQEQLKRNVRFHAFISYSEHDSLWVKNELIPNLEKEDGSILICLYESYFDPGKSISENIVSFIEKSYKSIFVLSPNF
VQNEWCHYEFYFAHHNLFHENSDHIILILLEPIPFYCIPTRYHKLKALLEKKAYLEWPKDRRKCGLFWANLRAAINVNVLATREMYELQTFTELNEESRG
STISLMRTDCL


SNP Information

Context             (SEQ ID NO:2256):
AACAACACACCCTTGGAACACTTGGATCTGAGTCAAAATCTATTACAACATAAAAATGATGAAAATTGCTCATGGCCAGAAACTGTGGTCAATATGAATC
Y
GTCATACAATAAATTGTCTGATTCTGTCTTCAGGTGCTTGCCCAAAAGTATTCAAATACTTGACCTAAATAATAACCAAATCCAAACTGTACCTAAAGAG
Celera SNP ID:            hCV25643380
SNP Position Transcript:  1400
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 428, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:2257):
TGCTTGCCCAAAAGTATTCAAATACTTGACCTAAATAATAACCAAATCCAAACTGTACCTAAAGAGACTATTCATCTGATGGCCTTACGAGAACTAAATA
Y
TGCATTTAATTTTCTAACTGATCTCCCTGGATGCAGTCATTTCAGTAGACTTTCAGTTCTGAACATTGAAATGAACTTCATTCTCAGCCCATCTCTGGAT
Celera SNP ID:            hCV25643390
SNP Position Transcript:  1535
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,39)   total(C,2|T,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 473, (T,ACT)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,37)   total(C,2|T,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 473, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:2258):
ATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCAGACATTCACAGAGTTAAATGAAGAGTCTCGAGGTTCTACAATCTCTCTGATGAGAACAGA
Y
TGTCTATAAAATCCCACAGTCCTTGGGAAGTTGGGGACCACATACACTGTTGGGATGTACATTGATACAACCTTTATGATGGCAATTTGACAATATTTAT
Celera SNP ID:            hCV309083
SNP Position Transcript:  2544
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,22)   caucasian(C,9|T,27)   total(C,11|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 809, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,26)   caucasian(C,9|T,29)   total(C,15|T,55)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 809, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2259):
ATAACCTCCTTTTTCAACTCCAGAGTTCAGATTTTCATTCTGTCTCCAAACTGAGAGTTTTGATTCTATGCCATAACAGAATTCAACAGCTGGATCTCAA
R
ACCTTTGAATTCAACAAGGAGTTAAGATATTTAGATTTGTCTAATAACAGACTGAAGAGTGTAACTTGGTATTTACTGGCAGGTCTCAGGTATTTAGATC
Celera SNP ID:            hCV25643391
SNP Position Transcript:  387
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,36)   total(A,72|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 90, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,40)   total(A,76|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 90, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:2260):
GTATCATAAACTGAAAGCTCTCCTGGAAAAAAAAGCATACTTGGAATGGCCCAAGGATAGGCGTAAATGTGGGCTTTTCTGGGCAAACCTTCGAGCTGCT
R
TTAATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCAGACATTCACAGAGTTAAATGAAGAGTCTCGAGGTTCTACAATCTCTCTGATGAGAAC
Celera SNP ID:            hCV309084
SNP Position Transcript:  2440
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,33|G,7)   total(A,70|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 775, (I,ATT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,30)   caucasian(A,33|G,7)   total(A,63|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 775, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(T,-|C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 775, (I,ATT)   (V,GTT)      775, (I,ATT)   (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:2261):
TGACACCATGCCTATCTGTGAGGAAGCTGGCAACATGTCACACCTGGAAATCCTAGGTTTGAGTGGGGCAAAAATACAAAAATCAGATTTCCAGAAAATT
K
CTCATCTGCATCTAAATACTGTCTTCTTAGGATTCAGAACTCTTCCTCATTATGAAGAAGGTAGCCTGCCCATCTTAAACACAACAAAACTGCACATTGT
Celera SNP ID:            hCV25643392
SNP Position Transcript:  604
SNP Source:               Applera
Population(Allele,Count): african american(G,36|T,2)   caucasian(G,39|T,1)   total(G,75|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 163, (A,GCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,39|T,1)   total(G,72|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 163, (A,GCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,34)   total(G,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 163, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:2262):
AGTCCATCTTTGTTTTGTCTCCCAACTTTGTCCAGAATGAGTGGTGCCATTATGAATTCTACTTTGCCCACCACAATCTCTTCCATGAAAATTCTGATCA
Y
ATAATTCTTATCTTACTGGAACCCATTCCATTCTATTGCATTCCCACCAGGTATCATAAACTGAAAGCTCTCCTGGAAAAAAAAGCATACTTGGAATGGC
Celera SNP ID:            hCV309085
SNP Position Transcript:  2289
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,28)   caucasian(C,9|T,31)   total(C,17|T,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 724, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,29)   caucasian(C,9|T,31)   total(C,18|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 724, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,18)   caucasian(C,9|T,31)   total(C,15|T,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 724, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:2263):
CAGTGGAACACTTTCAGATCCGAAATGTGACTTTTGGTGGTAAGGCTTATCTTGACCACAATTCATTTGACTACTCAAATACTGTAATGAGAACTATAAA
R
TTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCTGACAATATCAAATGCAC
Celera SNP ID:            hCV25473278
SNP Position Transcript:  1026
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,7)   caucasian(A,35|G,5)   total(A,62|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 303, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:2264):
TGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACT
M
TCCAACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTAACAACACACCCTTGGAACACTT
Celera SNP ID:            hCV309086
SNP Position Transcript:  1222
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,14)   caucasian(A,24|C,14)   total(A,46|C,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 369, (I,ATC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,4)   caucasian(A,16|C,10)   total(A,28|C,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 369, (I,ATC)   (L,CTC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,5)   total(A,5|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 369, (I,ATC)   (L,CTC)      



Context             (SEQ ID NO:2265):
TCCAGCCTGGTGACAGAGCGAGACTCCATCTC
R

Celera SNP ID:            hCV26008456
SNP Position Transcript:  3135
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,4)   total(G,1|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:746, None   



Context             (SEQ ID NO:2266):
CTTTTCTGGGCAAACCTTCGAGCTGCTATTAATGTTAATGTATTAGCCACCAGAGAAATGTATGAACTGCAGACATTCACAGAGTTAAATGAAGAGTCTC
R
AGGTTCTACAATCTCTCTGATGAGAACAGATTGTCTATAAAATCCCACAGTCCTTGGGAAGTTGGGGACCACATACACTGTTGGGATGTACATTGATACA
Celera SNP ID:            hCV25643379
SNP Position Transcript:  2513
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,39)   total(A,1|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 799, (Q,CAA)   (R,CGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,37)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 799, (Q,CAA)   (R,CGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 799, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:2267):
TGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCC
K
AATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCA
Celera SNP ID:            hCV309087
SNP Position Transcript:  1149
SNP Source:               Applera
Population(Allele,Count): african american(G,28|T,8)   caucasian(G,31|T,9)   total(G,59|T,17)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 344, (P,CCG)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,2)   caucasian(G,20|T,4)   total(G,42|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 344, (P,CCG)   (P,CCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,5)   total(G,5|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 344, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:2268):
GCGTGATGGAATCAAGACTTCAAAAATATTAGAAATGACAAATATAGATGGCAAAAGCCAATTTGTAAGTTATGAAATGCAACGAAATCTTAGTTTAGAA
M
ATGCTAAGACATCGGTTCTATTGCTTAATAAAGTTGATTTACTCTGGGACGACCTTTTCCTTATCTTACAATTTGTTTGGCATACATCAGTGGAACACTT
Celera SNP ID:            hCV309088
SNP Position Transcript:  838
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,14)   caucasian(A,25|C,15)   total(A,45|C,29)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 241, (N,AAT)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,4)   caucasian(A,7|C,11)   total(A,15|C,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 241, (N,AAT)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 241, (N,AAT)   (H,CAT)      



Context             (SEQ ID NO:2269):
AGGGTGATGCTCCAGAGCTGCCAGAAGAAAGGGAACTGATGACCAACTGCTCCAACATGTCTCTAAGAAAGGTTCCCGCAGACTTGACCCCAGCCACAAC
R
ACACTGGATTTATCCTATAACCTCCTTTTTCAACTCCAGAGTTCAGATTTTCATTCTGTCTCCAAACTGAGAGTTTTGATTCTATGCCATAACAGAATTC
Celera SNP ID:            hCV25474567
SNP Position Transcript:  270
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,28)   caucasian(G,32)   total(A,6|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 51, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,1|G,35)   total(A,3|G,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:746, 51, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2270):
ATTTGTTTGGCATACATCAGTGGAACACTTTCAGATCCGAAATGTGACTTTTGGTGGTAAGGCTTATCTTGACCACAATTCATTTGACTACTCAAATACT
R
TAATGAGAACTATAAAATTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAATGGACATAGAAAACCT
Celera SNP ID:            hCV25643404
SNP Position Transcript:  1009
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 298, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:2271):
GACTACTCAAATACTGTAATGAGAACTATAAAATTGGAGCATGTACATTTCAGAGTGTTTTACATTCAACAGGATAAAATCTATTTGCTTTTGACCAAAA
Y
GGACATAGAAAACCTGACAATATCAAATGCACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATC
Celera SNP ID:            hCV25643406
SNP Position Transcript:  1094
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,1|T,39)   total(C,2|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 326, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2272):
ACAAATGCCACACATGCTTTTCCCGAATTATCCTACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACTATC
Y
AACTGCCTCACTTGAAAACTCTCATTTTGAATGGCAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTAACAACACACCCTTGGAACACTTGGA
Celera SNP ID:            hCV25643407
SNP Position Transcript:  1225
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,1)   caucasian(C,24)   total(C,41|T,1)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 370, (Q,CAA)   (X,TAA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 370, (Q,CAA)   (X,TAA)   



Context             (SEQ ID NO:2273):
ACGAAATTCCAATATTTAAATTTTGCCAATAATATCTTAACAGACGAGTTGTTTAAAAGAACTATCCAACTGCCTCACTTGAAAACTCTCATTTTGAATG
R
CAATAAACTGGAGACACTTTCTTTAGTAAGTTGCTTTGCTAACAACACACCCTTGGAACACTTGGATCTGAGTCAAAATCTATTACAACATAAAAATGAT
Celera SNP ID:            hCV25643418
SNP Position Transcript:  1259
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:746, 381, (D,GAC)   (G,GGC)   



Gene Number:                 26
Celera Gene:                 hCG1647772 - 65000099363237
Celera Transcript:           hCT2277028 - 65000099363310
Public Transcript Accession: NM_013398
Celera Protein:              hCP1891957 - 197000069435221
Public Protein Accession:    NP_037530
Gene Symbol:                 ZNF255
Protein Name:                zinc finger protein 255;BMZF-2;BMZF2
Celera Genomic Axis:         GA_x5YUV32VTL1(6809478..6824030)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:50):
GGGGCAGTTCCGCGCGTTGCAGGCCCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAAAGAACTGGTGATCGAATTAGGGGAAAAGGGGCCTCGTC
GGAGAGTAGAGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTGCAGCAAGGAAGCCCACGTACCAGGGGCTGTCTTG
GCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCACRTTCAAGGAGGCAATGACCTTCAA
GGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGATGCTGGAGAACTTCAGGAACCTG
CTCTCAGTGGGACATCAAGCATTCCACAGGGATACTTTCCACTTCCTAAGGGAAGAAAAGATTTGGATGATGAAGACAGCAATCCAAAGGGAAGGGAATT
CAGGAGACAAGATCCAAACTGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTT
AACCAGGTCTCAAGACTTGRTGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGA
CAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTRATGTCTCCCWCTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATAYGT
GTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGTAA
GGAATTCAGTCAGAGTTCACATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGA
TCAGCACTTAATGTTCATCAYAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAAC
ATCAGAGAATCCATACKGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACAC
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCRCATGATCCACACAGGAGAGAAACCATAC
RAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGARAAGCCATATAATTGTAARSAGTGTG
GGAAGAGCTTYAGATGGGCCYCRTGTCTTTTGAAACATSAGMGAGTCCACAGTGGAGAAAAACCATTCMAATGTGAAGARTGTGGGAAAGGATTTTACWC
AAATTCACAATGCTATTCCCAYCAGAGATCCCAYASTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGAC
TTTCACCAGCGCGTCCATACAGGAGAGAAACTGTATAATTGTAAGGAATGTGGGAAGAGCTTTAGTCGGGCCCCATGTCTTTTGAAACATGAGAGACTCC
ACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTSACACTGGAGAAAAGCC
ATACAAATGTGAGAAGTGTGGAAAGGGCTACAAWAGKARGTTKRATCTTGAYATGCACCAGMRSGTCCACACAGGAGAGARACCRTAYAATTGTAAGGAA
TGTGGGAAGAGYTTWGGCTGGGCCTYGTGTCTTTTGAAACATCAGAGACTGCACAGTGGRGAAAAACCWTTCAAATGTGAAGAGTGTGGGAAAAGATTTA
YTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCG
TCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCTRAAGTGCAAGAAAAA
GTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGTCCACATGGGAGAGA
AAACATGGAAGTGTAGGGAGTGTGATATGTGCTTTAGTCAGGCCTCAAGCCTTCGACTTCATCAGAATGTTCATGTTGGAGAAAAACCTTAGTGATGTGA
TGGTGCAATAAAGTCTTCACTCAGTCTTCATGAATGCAGTCTCATCTGAAAGTTCACAAAGGAGAGACACATTAAAATATGAGGCACATAGTAAGCACTT
CCCTTTGAGTATTTTATCTCTGAATCCATGCTGGTGATAAATTTCACCCATTCTTGGAAGAGGGAAAACATTTGTTTAAGATAACATCAGTGCTTCAGCC
ATAGCTCAGCATGCCCCAGTAGTCTCAGGACCACCATAATGGAGAATCCTTGTAAATGGTGCAATAAAGCTTCATTCAGAAGTTTGATAATTACAGCTAT
CATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAARCTACATG
TGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCHCTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACATATGTAT
GGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCAAAAAATAATTCTGGGAAACATGAGTTGAAATGCAGAGTAAACTCAGTACTGCAATCC
ATAGCAATATTTTGCATATTATTATTTTTTCTTTTAAATTTTTTTCTTGATCAGATTTATCATATTCATTGAACATTAT

Protein Sequence    (SEQ ID NO:747):
MTTFKEAMTFKDVAVVFTEEELGLLDLAQRKLYRDVMLENFRNLLSVGHQAFHRDTFHFLREEKIWMMKTAIQREGNSGDKIQTEMETVSEAGTHQEWSF
QQIWEKIASDLTRSQDLVINSSQFSKEGDFPCQTEAGLSVIHTRQKSSQGNGYKPSFSDVSHFDFHQQLHSGEKSHTCDECGKNFCYISALRIHQRVHMG
EKCYKCDVCGKEFSQSSHLQTHQRVHTGEKPFKCVECGKGFSRRSALNVHHKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFCGR
SRLNRHSMVHTAEKPFRCDTCDKSFRQRSALNSHRMIHTGEKPYKCEECGKGFICRRDLYTHHMVHTGEKPYNCKECGKSFRWASCLLKHQRVHSGEKPF
KCEECGKGFYTNSQCYSHQRSHSGEKPYKCVECGKGYKRRLDLDFHQRVHTGEKLYNCKECGKSFSRAPCLLKHERLHSGEKPFQCEECGKRFTQNSHLH
SHQRVHTGEKPYKCEKCGKGYNSKFNLDMHQKVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECGKRFTQNSQLHSHQRVHTGEKPYKCDE
CGKGFSWSSTRLTHQRRHSRETPLKCEQHGKNIVQNSFSEVQEKVHSVEKPYKCEDCGKGYNRRLNLDMHQRVHMGEKTWKCRECDMCFSQASSLRLHQN
VHVGEKP


SNP Information

Context             (SEQ ID NO:2274):
CTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATA
Y
AATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTG
Celera SNP ID:            hCV27508341
SNP Position Transcript:  1888
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 540, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2275):
AGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAG
Y
TTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCAC
Celera SNP ID:            hCV25651286
SNP Position Transcript:  1912
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,4)   caucasian(C,6|T,30)   total(C,8|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 548, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,163|T,1310)   total(C,163|T,1310) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 548, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2276):
TTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAA
S
GTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAA
Celera SNP ID:            hCV27508342
SNP Position Transcript:  1864
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 532, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:2277):
AGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGG
R
GAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAAT
Celera SNP ID:            hCV11707393
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,6|G,32)   total(A,9|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 564, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,7|G,33)   total(A,23|G,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 564, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 564, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2278):
TCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAG
M
AGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGA
Celera SNP ID:            hCV27508343
SNP Position Transcript:  1862
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 532, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:2279):
ACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACC
W
TTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGT
Celera SNP ID:            hCV11707394
SNP Position Transcript:  1969
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,19)   caucasian(A,7|T,29)   total(A,24|T,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 567, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,3)   caucasian(A,6|T,32)   total(A,9|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 567, (P,CCA)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 567, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2280):
ATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTT
R
ATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCA
Celera SNP ID:            hCV27508344
SNP Position Transcript:  1844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 526, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:2281):
GGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAG
K
AAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGA
Celera SNP ID:            hCV27508345
SNP Position Transcript:  1837
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 523, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:2282):
GCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTC
R
TGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACC
Celera SNP ID:            hCV27508346
SNP Position Transcript:  1423
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 385, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2283):
AGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATA
Y
GTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGT
Celera SNP ID:            hCV22272829
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,3)   total(C,73|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,29|T,3)   total(C,58|T,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,3|T,1)   total(C,18|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,35|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 177, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2284):
GAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTT
S
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
Celera SNP ID:            hCV27476116
SNP Position Transcript:  1784
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 506, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:2285):
GCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCAC
R
TTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGA
Celera SNP ID:            hCV25641309
SNP Position Transcript:  277
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,1|G,37)   total(A,1|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 3, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 3, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2286):
AGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTT
W
GGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGC
Celera SNP ID:            hCV27479780
SNP Position Transcript:  1915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 549, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:2287):
CTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGA
R
GGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAA
Celera SNP ID:            hCV27469859
SNP Position Transcript:  1863
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 532, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2288):
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
R
TACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGT
Celera SNP ID:            hCV27479781
SNP Position Transcript:  1885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 539, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2289):
CTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCT
R
AAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGT
Celera SNP ID:            hCV22274939
SNP Position Transcript:  2186
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,5)   caucasian(A,6|G,30)   total(A,9|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 640, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,14)   caucasian(A,3|G,27)   total(A,9|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 640, (K,AAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 640, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:2290):
CATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATA
S
TGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTAT
Celera SNP ID:            hCV27479782
SNP Position Transcript:  1536
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 423, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:2291):
ACAGCTATCATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAA
R
CTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCACTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACA
Celera SNP ID:            hCV2814089
SNP Position Transcript:  2793
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:747, None   



Context             (SEQ ID NO:2292):
TGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTG
R
TGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAA
Celera SNP ID:            hCV15861147
SNP Position Transcript:  620
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,3|G,37)   total(A,10|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 118, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,4|G,36)   total(A,11|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 118, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 118, (M,ATG)   (V,GTG)      118, (V,GTG)   (M,ATG)      



Context             (SEQ ID NO:2293):
GTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGA
R
ACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAA
Celera SNP ID:            hCV27469989
SNP Position Transcript:  1881
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 538, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2294):
ATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCA
Y
AAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACGGGGG
Celera SNP ID:            hCV22272456
SNP Position Transcript:  1021
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,14)   caucasian(C,31|T,5)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,35|T,5)   total(C,58|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,2)   caucasian(C,9|T,3)   total(C,13|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 251, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 251, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2295):
GGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCT
Y
GTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCAT
Celera SNP ID:            hCV25651297
SNP Position Transcript:  1926
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,37|T,1)   total(C,43|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 553, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:2296):
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCGCATGATCCACACAGGAGAGAAACCATAC
R
AATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGG
Celera SNP ID:            hCV25981903
SNP Position Transcript:  1301
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,37|G,1)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 345, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2297):
ATCATAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATAC
K
GGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCC
Celera SNP ID:            hCV22274456
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(G,8|T,2)   total(G,28|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,4)   caucasian(G,38|T,2)   total(G,60|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,38|T,2)   total(G,69|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,4)   caucasian(G,36|T,2)   total(G,60|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 283, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:2298):
GATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCC
W
CTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAG
Celera SNP ID:            hCV22271589
SNP Position Transcript:  753
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,32)   caucasian(A,3|T,33)   total(A,9|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|T,30)   caucasian(A,4|T,36)   total(A,12|T,66)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(A,3|T,37)   total(A,10|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 162, (H,CAC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,3)      total(A,3|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 162, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:2299):
ACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAA
S
AGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATT
Celera SNP ID:            hCV25981675
SNP Position Transcript:  1394
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,40)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 376, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2300):
GATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTT
K
AATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATC
Celera SNP ID:            hCV27469860
SNP Position Transcript:  1843
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 525, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:2301):
CAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGT
R
ATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCG
Celera SNP ID:            hCV25641317
SNP Position Transcript:  743
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 159, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 159, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:2302):
AAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTA
R
GTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAA
Celera SNP ID:            hCV27469861
SNP Position Transcript:  1839
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 524, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2303):
AGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATC
R
CATGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGA
Celera SNP ID:            hCV25641318
SNP Position Transcript:  1272
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 335, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,40)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 335, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:2304):
GTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAA
W
AGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTT
Celera SNP ID:            hCV27469862
SNP Position Transcript:  1834
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 522, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:2305):
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Y
CAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAG
Celera SNP ID:            hCV27469863
SNP Position Transcript:  1522
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 418, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2306):
TTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAAACTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGC
H
CTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACATATGTATGGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCA
Celera SNP ID:            hCV2814090
SNP Position Transcript:  2843
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,1|T,1|-,6)   total(A,1|C,1|-,6|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:747, None   



Context             (SEQ ID NO:2307):
CATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGA
R
TGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACA
Celera SNP ID:            hCV27469864
SNP Position Transcript:  1480
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 404, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2308):
AAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGA
Y
ATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGC
Celera SNP ID:            hCV25641319
SNP Position Transcript:  1852
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 528, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2309):
GGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTC
M
AATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGG
Celera SNP ID:            hCV27469865
SNP Position Transcript:  1469
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 401, (K,AAA)   (Q,CAA)      



Context             (SEQ ID NO:2310):
AGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACAT
S
AGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGG
Celera SNP ID:            hCV27469866
SNP Position Transcript:  1439
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 391, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:2311):
TGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTA
Y
TCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGT
Celera SNP ID:            hCV8713541
SNP Position Transcript:  2001
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 578, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:2312):
AACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCA
Y
AGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGT
Celera SNP ID:            hCV27469990
SNP Position Transcript:  1534
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 422, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2313):
TCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAG
M
GAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGA
Celera SNP ID:            hCV27469991
SNP Position Transcript:  1442
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 392, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:2314):
TGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTAC
W
CAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGA
Celera SNP ID:            hCV27479793
SNP Position Transcript:  1499
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 411, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:2315):
TGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGA
R
AAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTG
Celera SNP ID:            hCV22272532
SNP Position Transcript:  1375
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,4|G,28)   total(A,6|G,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,22)   caucasian(A,4|G,26)   total(A,12|G,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,6|G,32)   total(A,8|G,46)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 369, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2316):
AGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCC
Y
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Celera SNP ID:            hCV27479794
SNP Position Transcript:  1421
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:747, 385, (P,CCG)   (S,TCG)      



Context             (SEQ ID NO:2317):
AGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTT
Y
AGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAAT
Celera SNP ID:            hCV27479795
SNP Position Transcript:  1411
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 381, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2318):
AACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAA
R
GAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGAT
Celera SNP ID:            hCV27479796
SNP Position Transcript:  1393
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:747, 375, (K,AAA)   (K,AAG)      



Gene Number:                 26
Celera Gene:                 hCG1647772 - 65000099363237
Celera Transcript:           hCT2277032 - 65000099363238
Public Transcript Accession: NM_013398
Celera Protein:              hCP1891950 - 197000069435214
Public Protein Accession:    NP_037530
Gene Symbol:                 ZNF255
Protein Name:                zinc finger protein 255;BMZF-2;BMZF2
Celera Genomic Axis:         GA_x5YUV32VTL1(6809402..6824030)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:51):
GAGTCCAAACATTCGGTGGAGTCGCGGACACTTCCGCTCGGGGACTGAGGTTGCTGCAGTTTTTCCGCGATAGTTTGGGGCAGTTCCGCGCGTTGCAGGC
CCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAAAGAACTGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTG
CAGCAAGGAAGCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGA
AAATGACCACRTTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTA
TCGAGATGTGATGCTGGAGAACTTCAGGAACCTGCTCTCAGTGGGACATCAAGCATTCCACAGGGATACTTTCCACTTCCTAAGGGAAGAAAAGATTTGG
ATGATGAAGACAGCAATCCAAAGGGAAGGGAATTCAGGAGACAAGATCCAAACTGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCT
TCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTGRTGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCA
GACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTRATGTCTCCCWCTTTGATTTTCAT
CAACAATTACACTCAGGAGAGAAATCTCATAYGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGG
GAGAGAAATGCTATAAGTGTGACGTGTGTGGTAAGGAATTCAGTCAGAGTTCACATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAA
ATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCAYAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGG
AAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACKGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTA
GATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAG
TCATCRCATGATCCACACAGGAGAGAAACCATACRAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCAC
ACGGGAGARAAGCCATATAATTGTAARSAGTGTGGGAAGAGCTTYAGATGGGCCYCRTGTCTTTTGAAACATSAGMGAGTCCACAGTGGAGAAAAACCAT
TCMAATGTGAAGARTGTGGGAAAGGATTTTACWCAAATTCACAATGCTATTCCCAYCAGAGATCCCAYASTGGAGAAAAACCATACAAATGTGTGGAGTG
TGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTATAATTGTAAGGAATGTGGGAAGAGCTTTAGT
CGGGCCCCATGTCTTTTGAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTC
ATTCCCATCAGAGAGTTSACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAAWAGKARGTTKRATCTTGAYATGCACCAGMRSGT
CCACACAGGAGAGARACCRTAYAATTGTAAGGAATGTGGGAAGAGYTTWGGCTGGGCCTYGTGTCTTTTGAAACATCAGAGACTGCACAGTGGRGAAAAA
CCWTTCAAATGTGAAGAGTGTGGGAAAAGATTTAYTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATG
AGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACAT
TGTACAGAATTCATTCTCTRAAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAAT
CTTGATATGCATCAGAGGGTCCACATGGGAGAGAAAACATGGAAGTGTAGGGAGTGTGATATGTGCTTTAGTCAGGCCTCAAGCCTTCGACTTCATCAGA
ATGTTCATGTTGGAGAAAAACCTTAGTGATGTGATGGTGCAATAAAGTCTTCACTCAGTCTTCATGAATGCAGTCTCATCTGAAAGTTCACAAAGGAGAG
ACACATTAAAATATGAGGCACATAGTAAGCACTTCCCTTTGAGTATTTTATCTCTGAATCCATGCTGGTGATAAATTTCACCCATTCTTGGAAGAGGGAA
AACATTTGTTTAAGATAACATCAGTGCTTCAGCCATAGCTCAGCATGCCCCAGTAGTCTCAGGACCACCATAATGGAGAATCCTTGTAAATGGTGCAATA
AAGCTTCATTCAGAAGTTTGATAATTACAGCTATCATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCAGACTAATGGTGGACATGT
CCAAATTGATGTCCACTAGAATGTAARCTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCHCTTTGTATGTGTTCAGTACTTGT
TTGTTAAATCAATGAAAGGATAAAACATATGTATGGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCAAAAAATAATTCTGGGAAACATGA
GTTGAAATGCAGAGTAAACTCAGTACTGCAATCCATAGCAATATTTTGCATATTATTATTTTTTCTTTTAAATTTTTTTCTTGATCAGATTTATCATATT
CATTGAACATTAT

Protein Sequence    (SEQ ID NO:748):
MTTFKEAMTFKDVAVVFTEEELGLLDLAQRKLYRDVMLENFRNLLSVGHQAFHRDTFHFLREEKIWMMKTAIQREGNSGDKIQTEMETVSEAGTHQEWSF
QQIWEKIASDLTRSQDLVINSSQFSKEGDFPCQTEAGLSVIHTRQKSSQGNGYKPSFSDVSHFDFHQQLHSGEKSHTCDECGKNFCYISALRIHQRVHMG
EKCYKCDVCGKEFSQSSHLQTHQRVHTGEKPFKCVECGKGFSRRSALNVHHKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFCGR
SRLNRHSMVHTAEKPFRCDTCDKSFRQRSALNSHRMIHTGEKPYKCEECGKGFICRRDLYTHHMVHTGEKPYNCKECGKSFRWASCLLKHQRVHSGEKPF
KCEECGKGFYTNSQCYSHQRSHSGEKPYKCVECGKGYKRRLDLDFHQRVHTGEKLYNCKECGKSFSRAPCLLKHERLHSGEKPFQCEECGKRFTQNSHLH
SHQRVHTGEKPYKCEKCGKGYNSKFNLDMHQKVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECGKRFTQNSQLHSHQRVHTGEKPYKCDE
CGKGFSWSSTRLTHQRRHSRETPLKCEQHGKNIVQNSFSEVQEKVHSVEKPYKCEDCGKGYNRRLNLDMHQRVHMGEKTWKCRECDMCFSQASSLRLHQN
VHVGEKP


SNP Information

Context             (SEQ ID NO:2319):
CTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATA
Y
AATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTG
Celera SNP ID:            hCV27508341
SNP Position Transcript:  1922
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 540, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2320):
AGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAG
Y
TTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCAC
Celera SNP ID:            hCV25651286
SNP Position Transcript:  1946
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,4)   caucasian(C,6|T,30)   total(C,8|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 548, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,163|T,1310)   total(C,163|T,1310) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 548, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2321):
TTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAA
S
GTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAA
Celera SNP ID:            hCV27508342
SNP Position Transcript:  1898
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 532, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:2322):
AGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGG
R
GAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAAT
Celera SNP ID:            hCV11707393
SNP Position Transcript:  1994
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,6|G,32)   total(A,9|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 564, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,7|G,33)   total(A,23|G,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 564, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 564, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2323):
TCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAG
M
AGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGA
Celera SNP ID:            hCV27508343
SNP Position Transcript:  1896
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 532, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:2324):
ACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACC
W
TTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGT
Celera SNP ID:            hCV11707394
SNP Position Transcript:  2003
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,19)   caucasian(A,7|T,29)   total(A,24|T,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 567, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,3)   caucasian(A,6|T,32)   total(A,9|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 567, (P,CCA)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 567, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2325):
ATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTT
R
ATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCA
Celera SNP ID:            hCV27508344
SNP Position Transcript:  1878
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 526, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:2326):
GGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAG
K
AAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGA
Celera SNP ID:            hCV27508345
SNP Position Transcript:  1871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 523, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:2327):
GCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTC
R
TGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACC
Celera SNP ID:            hCV27508346
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 385, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2328):
AGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATA
Y
GTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGT
Celera SNP ID:            hCV22272829
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,3)   total(C,73|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,29|T,3)   total(C,58|T,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,3|T,1)   total(C,18|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,35|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 177, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2329):
GAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTT
S
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
Celera SNP ID:            hCV27476116
SNP Position Transcript:  1818
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 506, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:2330):
GCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCAC
R
TTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGA
Celera SNP ID:            hCV25641309
SNP Position Transcript:  311
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,1|G,37)   total(A,1|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 3, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 3, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2331):
AGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTT
W
GGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGC
Celera SNP ID:            hCV27479780
SNP Position Transcript:  1949
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 549, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:2332):
CTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGA
R
GGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAA
Celera SNP ID:            hCV27469859
SNP Position Transcript:  1897
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 532, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2333):
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
R
TACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGT
Celera SNP ID:            hCV27479781
SNP Position Transcript:  1919
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 539, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2334):
CTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCT
R
AAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGT
Celera SNP ID:            hCV22274939
SNP Position Transcript:  2220
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,5)   caucasian(A,6|G,30)   total(A,9|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 640, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,14)   caucasian(A,3|G,27)   total(A,9|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 640, (K,AAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 640, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:2335):
CATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATA
S
TGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTAT
Celera SNP ID:            hCV27479782
SNP Position Transcript:  1570
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 423, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:2336):
ACAGCTATCATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAA
R
CTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCACTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACA
Celera SNP ID:            hCV2814089
SNP Position Transcript:  2827
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:748, None   



Context             (SEQ ID NO:2337):
TGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTG
R
TGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAA
Celera SNP ID:            hCV15861147
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,3|G,37)   total(A,10|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 118, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,4|G,36)   total(A,11|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 118, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 118, (M,ATG)   (V,GTG)      118, (V,GTG)   (M,ATG)      



Context             (SEQ ID NO:2338):
GTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGA
R
ACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAA
Celera SNP ID:            hCV27469989
SNP Position Transcript:  1915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 538, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2339):
ATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCA
Y
AAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACGGGGG
Celera SNP ID:            hCV22272456
SNP Position Transcript:  1055
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,14)   caucasian(C,31|T,5)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,35|T,5)   total(C,58|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,2)   caucasian(C,9|T,3)   total(C,13|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 251, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 251, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2340):
GGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCT
Y
GTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCAT
Celera SNP ID:            hCV25651297
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,37|T,1)   total(C,43|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 553, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:2341):
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCGCATGATCCACACAGGAGAGAAACCATAC
R
AATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGG
Celera SNP ID:            hCV25981903
SNP Position Transcript:  1335
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,37|G,1)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 345, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2342):
ATCATAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATAC
K
GGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCC
Celera SNP ID:            hCV22274456
SNP Position Transcript:  1151
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(G,8|T,2)   total(G,28|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,4)   caucasian(G,38|T,2)   total(G,60|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,38|T,2)   total(G,69|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,4)   caucasian(G,36|T,2)   total(G,60|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 283, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:2343):
GATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCC
W
CTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAG
Celera SNP ID:            hCV22271589
SNP Position Transcript:  787
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,32)   caucasian(A,3|T,33)   total(A,9|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|T,30)   caucasian(A,4|T,36)   total(A,12|T,66)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(A,3|T,37)   total(A,10|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 162, (H,CAC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,3)      total(A,3|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 162, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:2344):
ACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAA
S
AGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATT
Celera SNP ID:            hCV25981675
SNP Position Transcript:  1428
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,40)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 376, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2345):
GATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTT
K
AATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATC
Celera SNP ID:            hCV27469860
SNP Position Transcript:  1877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 525, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:2346):
CAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGT
R
ATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCG
Celera SNP ID:            hCV25641317
SNP Position Transcript:  777
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 159, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 159, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:2347):
AAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTA
R
GTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAA
Celera SNP ID:            hCV27469861
SNP Position Transcript:  1873
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 524, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2348):
AGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATC
R
CATGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGA
Celera SNP ID:            hCV25641318
SNP Position Transcript:  1306
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 335, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,40)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 335, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:2349):
GTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAA
W
AGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTT
Celera SNP ID:            hCV27469862
SNP Position Transcript:  1868
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 522, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:2350):
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Y
CAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAG
Celera SNP ID:            hCV27469863
SNP Position Transcript:  1556
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 418, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2351):
TTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAAACTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGC
H
CTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACATATGTATGGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCA
Celera SNP ID:            hCV2814090
SNP Position Transcript:  2877
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,1|T,1|-,6)   total(A,1|C,1|-,6|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:748, None   



Context             (SEQ ID NO:2352):
CATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGA
R
TGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACA
Celera SNP ID:            hCV27469864
SNP Position Transcript:  1514
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 404, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2353):
AAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGA
Y
ATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGC
Celera SNP ID:            hCV25641319
SNP Position Transcript:  1886
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 528, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2354):
GGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTC
M
AATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGG
Celera SNP ID:            hCV27469865
SNP Position Transcript:  1503
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 401, (K,AAA)   (Q,CAA)      



Context             (SEQ ID NO:2355):
AGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACAT
S
AGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGG
Celera SNP ID:            hCV27469866
SNP Position Transcript:  1473
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 391, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:2356):
TGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTA
Y
TCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGT
Celera SNP ID:            hCV8713541
SNP Position Transcript:  2035
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 578, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:2357):
AACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCA
Y
AGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGT
Celera SNP ID:            hCV27469990
SNP Position Transcript:  1568
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 422, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2358):
TCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAG
M
GAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGA
Celera SNP ID:            hCV27469991
SNP Position Transcript:  1476
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 392, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:2359):
TGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTAC
W
CAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGA
Celera SNP ID:            hCV27479793
SNP Position Transcript:  1533
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 411, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:2360):
TGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGA
R
AAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTG
Celera SNP ID:            hCV22272532
SNP Position Transcript:  1409
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,4|G,28)   total(A,6|G,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,22)   caucasian(A,4|G,26)   total(A,12|G,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,6|G,32)   total(A,8|G,46)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 369, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2361):
AGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCC
Y
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Celera SNP ID:            hCV27479794
SNP Position Transcript:  1455
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:748, 385, (P,CCG)   (S,TCG)      



Context             (SEQ ID NO:2362):
AGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTT
Y
AGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAAT
Celera SNP ID:            hCV27479795
SNP Position Transcript:  1445
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 381, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2363):
AACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAA
R
GAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGAT
Celera SNP ID:            hCV27479796
SNP Position Transcript:  1427
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:748, 375, (K,AAA)   (K,AAG)      



Gene Number:                 26
Celera Gene:                 hCG1647772 - 65000099363237
Celera Transcript:           hCT2277029 - 65000099363320
Public Transcript Accession: NM_013398
Celera Protein:              hCP1891958 - 197000069435222
Public Protein Accession:    NP_037530
Gene Symbol:                 ZNF255
Protein Name:                zinc finger protein 255;BMZF-2;BMZF2
Celera Genomic Axis:         GA_x5YUV32VTL1(6809478..6828161)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:52):
GGGGCAGTTCCGCGCGTTGCAGGCCCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAAAGAACTGGTGATCGAATTAGGGGAAAAGGGGCCTCGTC
GGAGAGTAGAGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTGCAGCAAGGAAGCCCACGTACCAGGGGCTGTCTTG
GCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCACRTTCAAGGAGGCAATGACCTTCAA
GGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGATGCTGGAGAACTTCAGGAACCTG
CTCTCAGTGGGACATCAAGCATTCCACAGGGATACTTTCCACTTCCTAAGGGAAGAAAAGATTTGGATGATGAAGACAGCAATCCAAAGGGAAGGGAATT
CAGGAGACAAGATCCAAACTGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTT
AACCAGGTCTCAAGACTTGRTGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGA
CAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTRATGTCTCCCWCTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATAYGT
GTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGTAA
GGAATTCAGTCAGAGTTCACATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGA
TCAGCACTTAATGTTCATCAYAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAAC
ATCAGAGAATCCATACKGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACAC
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCRCATGATCCACACAGGAGAGAAACCATAC
RAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGARAAGCCATATAATTGTAARSAGTGTG
GGAAGAGCTTYAGATGGGCCYCRTGTCTTTTGAAACATSAGMGAGTCCACAGTGGAGAAAAACCATTCMAATGTGAAGARTGTGGGAAAGGATTTTACWC
AAATTCACAATGCTATTCCCAYCAGAGATCCCAYASTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGAC
TTTCACCAGCGCGTCCATACAGGAGAGAAACTGTATAATTGTAAGGAATGTGGGAAGAGCTTTAGTCGGGCCCCATGTCTTTTGAAACATGAGAGACTCC
ACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTSACACTGGAGAAAAGCC
ATACAAATGTGAGAAGTGTGGAAAGGGCTACAAWAGKARGTTKRATCTTGAYATGCACCAGMRSGTCCACACAGGAGAGARACCRTAYAATTGTAAGGAA
TGTGGGAAGAGYTTWGGCTGGGCCTYGTGTCTTTTGAAACATCAGAGACTGCACAGTGGRGAAAAACCWTTCAAATGTGAAGAGTGTGGGAAAAGATTTA
YTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCG
TCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCTRAAGTGCAAGAAAAA
GTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGTCCACATGGGAGAGA
AAACATGGAAGTGTAGGGAGTGTGATATGTGCTTTAGTCAGGCCTCAAGCCTTCGACTTCATCAGAATGTTCATGTTGGAGAAAAACCTTAGTGATGTGA
TGGTGCAATAAAGTCTTCACTCAGTCTTCATGAATGCAGTCTCATCTGAAAATTAGCAAAACTTAACTCCTCGAAGACTGTGTCTTCTCGCTTGTTCCCT
TTCCAATAACACTCCTGTTATCATTGGAGGCGTTTAGACTTCAGAAATTCCTGTCTATTCAGTATTTTCTGTCCTGGACCAGGGAGAGAGAAGGACGACT
CTCAGGATAACAGTTCACATTCCCCACTAGGCAGGCGCTCGTGGCTTTGGGATTCGTTCCCAGTGGGCACCTCGGAGTGGCAACGCTTCCCCCTGAAGAA
TGAGATTTTGAGCGTTTTTCCTTCAGC

Protein Sequence    (SEQ ID NO:749):
MTTFKEAMTFKDVAVVFTEEELGLLDLAQRKLYRDVMLENFRNLLSVGHQAFHRDTFHFLREEKIWMMKTAIQREGNSGDKIQTEMETVSEAGTHQEWSF
QQIWEKIASDLTRSQDLVINSSQFSKEGDFPCQTEAGLSVIHTRQKSSQGNGYKPSFSDVSHFDFHQQLHSGEKSHTCDECGKNFCYISALRIHQRVHMG
EKCYKCDVCGKEFSQSSHLQTHQRVHTGEKPFKCVECGKGFSRRSALNVHHKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFCGR
SRLNRHSMVHTAEKPFRCDTCDKSFRQRSALNSHRMIHTGEKPYKCEECGKGFICRRDLYTHHMVHTGEKPYNCKECGKSFRWASCLLKHQRVHSGEKPF
KCEECGKGFYTNSQCYSHQRSHSGEKPYKCVECGKGYKRRLDLDFHQRVHTGEKLYNCKECGKSFSRAPCLLKHERLHSGEKPFQCEECGKRFTQNSHLH
SHQRVHTGEKPYKCEKCGKGYNSKFNLDMHQKVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECGKRFTQNSQLHSHQRVHTGEKPYKCDE
CGKGFSWSSTRLTHQRRHSRETPLKCEQHGKNIVQNSFSEVQEKVHSVEKPYKCEDCGKGYNRRLNLDMHQRVHMGEKTWKCRECDMCFSQASSLRLHQN
VHVGEKP


SNP Information

Context             (SEQ ID NO:2364):
CTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATA
Y
AATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTG
Celera SNP ID:            hCV27508341
SNP Position Transcript:  1888
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 540, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2365):
AGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAG
Y
TTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCAC
Celera SNP ID:            hCV25651286
SNP Position Transcript:  1912
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,4)   caucasian(C,6|T,30)   total(C,8|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 548, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,163|T,1310)   total(C,163|T,1310) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 548, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2366):
TTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAA
S
GTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAA
Celera SNP ID:            hCV27508342
SNP Position Transcript:  1864
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 532, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:2367):
AGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGG
R
GAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAAT
Celera SNP ID:            hCV11707393
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,6|G,32)   total(A,9|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 564, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,7|G,33)   total(A,23|G,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 564, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 564, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2368):
TCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAG
M
AGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGA
Celera SNP ID:            hCV27508343
SNP Position Transcript:  1862
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 532, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:2369):
ACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACC
W
TTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGT
Celera SNP ID:            hCV11707394
SNP Position Transcript:  1969
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,19)   caucasian(A,7|T,29)   total(A,24|T,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 567, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,3)   caucasian(A,6|T,32)   total(A,9|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 567, (P,CCA)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 567, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2370):
ATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTT
R
ATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCA
Celera SNP ID:            hCV27508344
SNP Position Transcript:  1844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 526, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:2371):
GGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAG
K
AAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGA
Celera SNP ID:            hCV27508345
SNP Position Transcript:  1837
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 523, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:2372):
GCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTC
R
TGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACC
Celera SNP ID:            hCV27508346
SNP Position Transcript:  1423
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 385, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2373):
AGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATA
Y
GTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGT
Celera SNP ID:            hCV22272829
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,3)   total(C,73|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,29|T,3)   total(C,58|T,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,3|T,1)   total(C,18|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,35|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 177, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2374):
GAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTT
S
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
Celera SNP ID:            hCV27476116
SNP Position Transcript:  1784
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 506, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:2375):
GCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCAC
R
TTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGA
Celera SNP ID:            hCV25641309
SNP Position Transcript:  277
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,1|G,37)   total(A,1|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 3, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 3, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2376):
AGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTT
W
GGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGC
Celera SNP ID:            hCV27479780
SNP Position Transcript:  1915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 549, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:2377):
CTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGA
R
GGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAA
Celera SNP ID:            hCV27469859
SNP Position Transcript:  1863
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 532, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2378):
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
R
TACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGT
Celera SNP ID:            hCV27479781
SNP Position Transcript:  1885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 539, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2379):
CTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCT
R
AAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGT
Celera SNP ID:            hCV22274939
SNP Position Transcript:  2186
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,5)   caucasian(A,6|G,30)   total(A,9|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 640, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,14)   caucasian(A,3|G,27)   total(A,9|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 640, (K,AAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 640, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:2380):
CATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATA
S
TGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTAT
Celera SNP ID:            hCV27479782
SNP Position Transcript:  1536
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 423, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:2381):
TGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTG
R
TGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAA
Celera SNP ID:            hCV15861147
SNP Position Transcript:  620
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,3|G,37)   total(A,10|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 118, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,4|G,36)   total(A,11|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 118, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 118, (M,ATG)   (V,GTG)      118, (V,GTG)   (M,ATG)      



Context             (SEQ ID NO:2382):
GTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGA
R
ACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAA
Celera SNP ID:            hCV27469989
SNP Position Transcript:  1881
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 538, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2383):
ATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCA
Y
AAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACGGGGG
Celera SNP ID:            hCV22272456
SNP Position Transcript:  1021
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,14)   caucasian(C,31|T,5)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,35|T,5)   total(C,58|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,2)   caucasian(C,9|T,3)   total(C,13|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 251, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 251, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2384):
GGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCT
Y
GTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCAT
Celera SNP ID:            hCV25651297
SNP Position Transcript:  1926
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,37|T,1)   total(C,43|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 553, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:2385):
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCGCATGATCCACACAGGAGAGAAACCATAC
R
AATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGG
Celera SNP ID:            hCV25981903
SNP Position Transcript:  1301
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,37|G,1)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 345, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2386):
ATCATAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATAC
K
GGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCC
Celera SNP ID:            hCV22274456
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(G,8|T,2)   total(G,28|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,4)   caucasian(G,38|T,2)   total(G,60|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,38|T,2)   total(G,69|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,4)   caucasian(G,36|T,2)   total(G,60|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 283, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:2387):
GATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCC
W
CTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAG
Celera SNP ID:            hCV22271589
SNP Position Transcript:  753
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,32)   caucasian(A,3|T,33)   total(A,9|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|T,30)   caucasian(A,4|T,36)   total(A,12|T,66)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(A,3|T,37)   total(A,10|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 162, (H,CAC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,3)      total(A,3|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 162, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:2388):
ACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAA
S
AGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATT
Celera SNP ID:            hCV25981675
SNP Position Transcript:  1394
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,40)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 376, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2389):
GATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTT
K
AATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATC
Celera SNP ID:            hCV27469860
SNP Position Transcript:  1843
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 525, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:2390):
CAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGT
R
ATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCG
Celera SNP ID:            hCV25641317
SNP Position Transcript:  743
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 159, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 159, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:2391):
AAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTA
R
GTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAA
Celera SNP ID:            hCV27469861
SNP Position Transcript:  1839
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 524, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2392):
AGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATC
R
CATGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGA
Celera SNP ID:            hCV25641318
SNP Position Transcript:  1272
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 335, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,40)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 335, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:2393):
GTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAA
W
AGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTT
Celera SNP ID:            hCV27469862
SNP Position Transcript:  1834
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 522, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:2394):
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Y
CAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAG
Celera SNP ID:            hCV27469863
SNP Position Transcript:  1522
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 418, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2395):
CATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGA
R
TGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACA
Celera SNP ID:            hCV27469864
SNP Position Transcript:  1480
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 404, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2396):
AAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGA
Y
ATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGC
Celera SNP ID:            hCV25641319
SNP Position Transcript:  1852
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 528, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2397):
GGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTC
M
AATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGG
Celera SNP ID:            hCV27469865
SNP Position Transcript:  1469
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 401, (K,AAA)   (Q,CAA)      



Context             (SEQ ID NO:2398):
AGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACAT
S
AGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGG
Celera SNP ID:            hCV27469866
SNP Position Transcript:  1439
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 391, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:2399):
TGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTA
Y
TCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGT
Celera SNP ID:            hCV8713541
SNP Position Transcript:  2001
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 578, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:2400):
AACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCA
Y
AGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGT
Celera SNP ID:            hCV27469990
SNP Position Transcript:  1534
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 422, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2401):
TCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAG
M
GAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGA
Celera SNP ID:            hCV27469991
SNP Position Transcript:  1442
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 392, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:2402):
TGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTAC
W
CAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGA
Celera SNP ID:            hCV27479793
SNP Position Transcript:  1499
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 411, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:2403):
TGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGA
R
AAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTG
Celera SNP ID:            hCV22272532
SNP Position Transcript:  1375
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,4|G,28)   total(A,6|G,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,22)   caucasian(A,4|G,26)   total(A,12|G,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,6|G,32)   total(A,8|G,46)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 369, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2404):
AGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCC
Y
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Celera SNP ID:            hCV27479794
SNP Position Transcript:  1421
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:749, 385, (P,CCG)   (S,TCG)      



Context             (SEQ ID NO:2405):
AGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTT
Y
AGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAAT
Celera SNP ID:            hCV27479795
SNP Position Transcript:  1411
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 381, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2406):
AACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAA
R
GAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGAT
Celera SNP ID:            hCV27479796
SNP Position Transcript:  1393
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:749, 375, (K,AAA)   (K,AAG)      



Gene Number:                 26
Celera Gene:                 hCG1647772 - 65000099363237
Celera Transcript:           hCT1647899 - 65000099363289
Public Transcript Accession: NM_013398
Celera Protein:              hCP1602411 - 197000069435219
Public Protein Accession:    NP_037530
Gene Symbol:                 ZNF255
Protein Name:                zinc finger protein 255;BMZF-2;BMZF2
Celera Genomic Axis:         GA_x5YUV32VTL1(6809402..6828161)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:53):
GAGTCCAAACATTCGGTGGAGTCGCGGACACTTCCGCTCGGGGACTGAGGTTGCTGCAGTTTTTCCGCGATAGTTTGGGGCAGTTCCGCGCGTTGCAGGC
CCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAAAGAACTGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTG
CAGCAAGGAAGCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGA
AAATGACCACRTTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTA
TCGAGATGTGATGCTGGAGAACTTCAGGAACCTGCTCTCAGTGGGACATCAAGCATTCCACAGGGATACTTTCCACTTCCTAAGGGAAGAAAAGATTTGG
ATGATGAAGACAGCAATCCAAAGGGAAGGGAATTCAGGAGACAAGATCCAAACTGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCT
TCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTGRTGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCA
GACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTRATGTCTCCCWCTTTGATTTTCAT
CAACAATTACACTCAGGAGAGAAATCTCATAYGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGG
GAGAGAAATGCTATAAGTGTGACGTGTGTGGTAAGGAATTCAGTCAGAGTTCACATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAA
ATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCAYAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGG
AAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACKGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTA
GATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAG
TCATCRCATGATCCACACAGGAGAGAAACCATACRAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCAC
ACGGGAGARAAGCCATATAATTGTAARSAGTGTGGGAAGAGCTTYAGATGGGCCYCRTGTCTTTTGAAACATSAGMGAGTCCACAGTGGAGAAAAACCAT
TCMAATGTGAAGARTGTGGGAAAGGATTTTACWCAAATTCACAATGCTATTCCCAYCAGAGATCCCAYASTGGAGAAAAACCATACAAATGTGTGGAGTG
TGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTATAATTGTAAGGAATGTGGGAAGAGCTTTAGT
CGGGCCCCATGTCTTTTGAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTC
ATTCCCATCAGAGAGTTSACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAAWAGKARGTTKRATCTTGAYATGCACCAGMRSGT
CCACACAGGAGAGARACCRTAYAATTGTAAGGAATGTGGGAAGAGYTTWGGCTGGGCCTYGTGTCTTTTGAAACATCAGAGACTGCACAGTGGRGAAAAA
CCWTTCAAATGTGAAGAGTGTGGGAAAAGATTTAYTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATG
AGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACAT
TGTACAGAATTCATTCTCTRAAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAAT
CTTGATATGCATCAGAGGGTCCACATGGGAGAGAAAACATGGAAGTGTAGGGAGTGTGATATGTGCTTTAGTCAGGCCTCAAGCCTTCGACTTCATCAGA
ATGTTCATGTTGGAGAAAAACCTTAGTGATGTGATGGTGCAATAAAGTCTTCACTCAGTCTTCATGAATGCAGTCTCATCTGAAAATTAGCAAAACTTAA
CTCCTCGAAGACTGTGTCTTCTCGCTTGTTCCCTTTCCAATAACACTCCTGTTATCATTGGAGGCGTTTAGACTTCAGAAATTCCTGTCTATTCAGTATT
TTCTGTCCTGGACCAGGGAGAGAGAAGGACGACTCTCAGGATAACAGTTCACATTCCCCACTAGGCAGGCGCTCGTGGCTTTGGGATTCGTTCCCAGTGG
GCACCTCGGAGTGGCAACGCTTCCCCCTGAAGAATGAGATTTTGAGCGTTTTTCCTTCAGC

Protein Sequence    (SEQ ID NO:750):
MTTFKEAMTFKDVAVVFTEEELGLLDLAQRKLYRDVMLENFRNLLSVGHQAFHRDTFHFLREEKIWMMKTAIQREGNSGDKIQTEMETVSEAGTHQEWSF
QQIWEKIASDLTRSQDLVINSSQFSKEGDFPCQTEAGLSVIHTRQKSSQGNGYKPSFSDVSHFDFHQQLHSGEKSHTCDECGKNFCYISALRIHQRVHMG
EKCYKCDVCGKEFSQSSHLQTHQRVHTGEKPFKCVECGKGFSRRSALNVHHKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFCGR
SRLNRHSMVHTAEKPFRCDTCDKSFRQRSALNSHRMIHTGEKPYKCEECGKGFICRRDLYTHHMVHTGEKPYNCKECGKSFRWASCLLKHQRVHSGEKPF
KCEECGKGFYTNSQCYSHQRSHSGEKPYKCVECGKGYKRRLDLDFHQRVHTGEKLYNCKECGKSFSRAPCLLKHERLHSGEKPFQCEECGKRFTQNSHLH
SHQRVHTGEKPYKCEKCGKGYNSKFNLDMHQKVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECGKRFTQNSQLHSHQRVHTGEKPYKCDE
CGKGFSWSSTRLTHQRRHSRETPLKCEQHGKNIVQNSFSEVQEKVHSVEKPYKCEDCGKGYNRRLNLDMHQRVHMGEKTWKCRECDMCFSQASSLRLHQN
VHVGEKP


SNP Information

Context             (SEQ ID NO:2407):
CTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATA
Y
AATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTG
Celera SNP ID:            hCV27508341
SNP Position Transcript:  1922
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 540, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2408):
AGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAG
Y
TTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCAC
Celera SNP ID:            hCV25651286
SNP Position Transcript:  1946
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,4)   caucasian(C,6|T,30)   total(C,8|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 548, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,163|T,1310)   total(C,163|T,1310) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 548, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2409):
TTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAA
S
GTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAA
Celera SNP ID:            hCV27508342
SNP Position Transcript:  1898
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 532, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:2410):
AGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGG
R
GAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAAT
Celera SNP ID:            hCV11707393
SNP Position Transcript:  1994
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,6|G,32)   total(A,9|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 564, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,7|G,33)   total(A,23|G,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 564, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 564, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2411):
TCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAG
M
AGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGA
Celera SNP ID:            hCV27508343
SNP Position Transcript:  1896
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 532, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:2412):
ACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACC
W
TTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGT
Celera SNP ID:            hCV11707394
SNP Position Transcript:  2003
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,19)   caucasian(A,7|T,29)   total(A,24|T,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 567, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,3)   caucasian(A,6|T,32)   total(A,9|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 567, (P,CCA)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 567, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2413):
ATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTT
R
ATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCA
Celera SNP ID:            hCV27508344
SNP Position Transcript:  1878
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 526, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:2414):
GGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAG
K
AAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGA
Celera SNP ID:            hCV27508345
SNP Position Transcript:  1871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 523, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:2415):
GCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTC
R
TGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACC
Celera SNP ID:            hCV27508346
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 385, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2416):
AGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATA
Y
GTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGT
Celera SNP ID:            hCV22272829
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,3)   total(C,73|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,29|T,3)   total(C,58|T,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,3|T,1)   total(C,18|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 177, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,35|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 177, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2417):
GAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTT
S
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
Celera SNP ID:            hCV27476116
SNP Position Transcript:  1818
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 506, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:2418):
GCCCACGTACCAGGGGCTGTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCAC
R
TTCAAGGAGGCAATGACCTTCAAGGACGTGGCTGTGGTCTTCACTGAGGAAGAGCTGGGGCTGCTGGACCTTGCTCAGAGGAAGCTGTATCGAGATGTGA
Celera SNP ID:            hCV25641309
SNP Position Transcript:  311
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,1|G,37)   total(A,1|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 3, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 3, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2419):
AGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTT
W
GGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGC
Celera SNP ID:            hCV27479780
SNP Position Transcript:  1949
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 549, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:2420):
CTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGA
R
GGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAA
Celera SNP ID:            hCV27469859
SNP Position Transcript:  1897
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 532, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2421):
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
R
TACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGT
Celera SNP ID:            hCV27479781
SNP Position Transcript:  1919
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 539, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2422):
CTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCT
R
AAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGT
Celera SNP ID:            hCV22274939
SNP Position Transcript:  2220
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,5)   caucasian(A,6|G,30)   total(A,9|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 640, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,14)   caucasian(A,3|G,27)   total(A,9|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 640, (K,AAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 640, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:2423):
CATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATA
S
TGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTAT
Celera SNP ID:            hCV27479782
SNP Position Transcript:  1570
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 423, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:2424):
TGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTG
R
TGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAA
Celera SNP ID:            hCV15861147
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,3|G,37)   total(A,10|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 118, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,4|G,36)   total(A,11|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 118, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 118, (M,ATG)   (V,GTG)      118, (V,GTG)   (M,ATG)      



Context             (SEQ ID NO:2425):
GTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGA
R
ACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAA
Celera SNP ID:            hCV27469989
SNP Position Transcript:  1915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 538, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2426):
ATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCA
Y
AAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACGGGGG
Celera SNP ID:            hCV22272456
SNP Position Transcript:  1055
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,14)   caucasian(C,31|T,5)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,35|T,5)   total(C,58|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 251, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,2)   caucasian(C,9|T,3)   total(C,13|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 251, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 251, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2427):
GGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCT
Y
GTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCAT
Celera SNP ID:            hCV25651297
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,37|T,1)   total(C,43|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 553, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:2428):
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCGCATGATCCACACAGGAGAGAAACCATAC
R
AATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGG
Celera SNP ID:            hCV25981903
SNP Position Transcript:  1335
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,37|G,1)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 345, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2429):
ATCATAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATAC
K
GGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCC
Celera SNP ID:            hCV22274456
SNP Position Transcript:  1151
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(G,8|T,2)   total(G,28|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,4)   caucasian(G,38|T,2)   total(G,60|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,38|T,2)   total(G,69|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 283, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,4)   caucasian(G,36|T,2)   total(G,60|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 283, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:2430):
GATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCC
W
CTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAG
Celera SNP ID:            hCV22271589
SNP Position Transcript:  787
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,32)   caucasian(A,3|T,33)   total(A,9|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|T,30)   caucasian(A,4|T,36)   total(A,12|T,66)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 162, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(A,3|T,37)   total(A,10|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 162, (H,CAC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,3)      total(A,3|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 162, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:2431):
ACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAA
S
AGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATT
Celera SNP ID:            hCV25981675
SNP Position Transcript:  1428
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,40)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 376, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2432):
GATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTT
K
AATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATC
Celera SNP ID:            hCV27469860
SNP Position Transcript:  1877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 525, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:2433):
CAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGT
R
ATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCG
Celera SNP ID:            hCV25641317
SNP Position Transcript:  777
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 159, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 159, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:2434):
AAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTA
R
GTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAA
Celera SNP ID:            hCV27469861
SNP Position Transcript:  1873
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 524, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2435):
AGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATC
R
CATGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGA
Celera SNP ID:            hCV25641318
SNP Position Transcript:  1306
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 335, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,40)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 335, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:2436):
GTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAA
W
AGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTT
Celera SNP ID:            hCV27469862
SNP Position Transcript:  1868
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 522, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:2437):
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Y
CAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAG
Celera SNP ID:            hCV27469863
SNP Position Transcript:  1556
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 418, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2438):
CATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGA
R
TGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACA
Celera SNP ID:            hCV27469864
SNP Position Transcript:  1514
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 404, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2439):
AAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGA
Y
ATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGC
Celera SNP ID:            hCV25641319
SNP Position Transcript:  1886
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 528, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2440):
GGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTC
M
AATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGG
Celera SNP ID:            hCV27469865
SNP Position Transcript:  1503
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 401, (K,AAA)   (Q,CAA)      



Context             (SEQ ID NO:2441):
AGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACAT
S
AGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGG
Celera SNP ID:            hCV27469866
SNP Position Transcript:  1473
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 391, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:2442):
TGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTA
Y
TCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGT
Celera SNP ID:            hCV8713541
SNP Position Transcript:  2035
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 578, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:2443):
AACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCA
Y
AGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGT
Celera SNP ID:            hCV27469990
SNP Position Transcript:  1568
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 422, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2444):
TCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAG
M
GAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGA
Celera SNP ID:            hCV27469991
SNP Position Transcript:  1476
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 392, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:2445):
TGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTAC
W
CAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGA
Celera SNP ID:            hCV27479793
SNP Position Transcript:  1533
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 411, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:2446):
TGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGA
R
AAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTG
Celera SNP ID:            hCV22272532
SNP Position Transcript:  1409
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,4|G,28)   total(A,6|G,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,22)   caucasian(A,4|G,26)   total(A,12|G,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,6|G,32)   total(A,8|G,46)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 369, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2447):
AGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCC
Y
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Celera SNP ID:            hCV27479794
SNP Position Transcript:  1455
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:750, 385, (P,CCG)   (S,TCG)      



Context             (SEQ ID NO:2448):
AGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTT
Y
AGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAAT
Celera SNP ID:            hCV27479795
SNP Position Transcript:  1445
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 381, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2449):
AACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAA
R
GAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGAT
Celera SNP ID:            hCV27479796
SNP Position Transcript:  1427
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:750, 375, (K,AAA)   (K,AAG)      



Gene Number:                 26
Celera Gene:                 hCG1647772 - 65000099363237
Celera Transcript:           hCT2277033 - 65000099363257
Public Transcript Accession: NM_013398
Celera Protein:              hCP1891952 - 197000069435216
Public Protein Accession:    NP_037530
Gene Symbol:                 ZNF255
Protein Name:                zinc finger protein 255;BMZF-2;BMZF2
Celera Genomic Axis:         GA_x5YUV32VTL1(6820399..6824030)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:54):
ATATTACTTTTGTTTAAAATTGGTTTTGATTCATATTTTATTATATACACAATTTATTAGCTTCATAATTTACCATGCAAGATTTTAGACTGATTAGGAA
ATTCACTAGGAAGAGTAGCAGGTATAATGTTTGTATCATATTAATTTTATTATTGTCTTTTATTTTTATTAAAAATTTTATTTCAGTAGTCTTTTTTTAT
TAAAGTATATACTGGTTTTTGGTTACATGGTTGAATTGTCTAATGGTGAAGTCTGAGATTTTAGTGTACCCATCACCTGAGTAGTGTACATTGTACCCAA
CTTGTAGCTTTTTATCCCTTACCCTACCTTCCACCCTCCCCATTTTGAGTCTSCATAGTCCATTATATCACTCTGTATGCCTTTGCATACCCATAGCTTA
ACTCCCACTTATAAGTGAAAACACGGTATTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGCCTCCAGCTCCATCCAAGTTGCTGCAAAAGA
CATTATTTCATTTTTTTATGGCTGAATAGTATTCCCTGGTGAATATATACCATATTTTCTTTATCCACTCATTGGTTGATGGGCACTTAGGTTGGTTCCA
TATCTTTGAAATTGTGAATTGTGCTGTAATAAATATAGGCATGCAGGTGTCCTTTTGATGTAAGGACTTCTTTTCCTTTGGGTAGATAGTAGTGGGATTG
CTGGATCAAATGGTAGATCCACTTTTAGTTCTTTAGAGAATCTCCATACTGTATTTCATAGAGGTTGTACTAATTTACATTCACACCAGCAGCAGTGTAT
AAGCGTTTCTTCTCACCACACCCATGTCAACATCTATTGTTTTTCGTCTTTTATTTCTATCAAGTATTTTACATATGATACTTGGTTTAGTTCGAAATTG
GCCTCATCCAAACCAAAGATTATGGTGCACTTGAAAAATACAAACTGAATGTTGTCTATACTCATGAGAGTTTCCTGCCATGGCCTAAGTGAAATCTTGA
TAACACTGAACAAAGGCTTCACTTGTCCTCATCTTTTAATTCTGTATTCTGATAGGAGACAAGATCCAAACTGAGATGGAGACTGTTTCAGAAGCAGGAA
CACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTGRTGATAAATAGCTCTCAGTTCTCCAAAGA
AGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTRATGTC
TCCCWCTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATAYGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTC
ATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGTAAGGAATTCAGTCAGAGTTCACATCTGCAAACTCATCAGAGAGTCCACAC
TGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCAYAAATTACACACAGGAGAGAAACCTTAT
AATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACKGGGGAGAAGCCATTCAAATGTGATATATGTG
GTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCA
GAGATCAGCACTTAATAGTCATCRCATGATCCACACAGGAGAGAAACCATACRAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTAT
ACGCATCATATGGTCCACACGGGAGARAAGCCATATAATTGTAARSAGTGTGGGAAGAGCTTYAGATGGGCCYCRTGTCTTTTGAAACATSAGMGAGTCC
ACAGTGGAGAAAAACCATTCMAATGTGAAGARTGTGGGAAAGGATTTTACWCAAATTCACAATGCTATTCCCAYCAGAGATCCCAYASTGGAGAAAAACC
ATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTATAATTGTAAGGAA
TGTGGGAAGAGCTTTAGTCGGGCCCCATGTCTTTTGAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTA
CTCAAAATTCACATCTTCATTCCCATCAGAGAGTTSACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAAWAGKARGTTKRATCT
TGAYATGCACCAGMRSGTCCACACAGGAGAGARACCRTAYAATTGTAAGGAATGTGGGAAGAGYTTWGGCTGGGCCTYGTGTCTTTTGAAACATCAGAGA
CTGCACAGTGGRGAAAAACCWTTCAAATGTGAAGAGTGTGGGAAAAGATTTAYTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAA
AGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGA
GCAGCATGGGAAGAACATTGTACAGAATTCATTCTCTRAAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGC
TACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGTCCACATGGGAGAGAAAACATGGAAGTGTAGGGAGTGTGATATGTGCTTTAGTCAGGCCTCAA
GCCTTCGACTTCATCAGAATGTTCATGTTGGAGAAAAACCTTAGTGATGTGATGGTGCAATAAAGTCTTCACTCAGTCTTCATGAATGCAGTCTCATCTG
AAAGTTCACAAAGGAGAGACACATTAAAATATGAGGCACATAGTAAGCACTTCCCTTTGAGTATTTTATCTCTGAATCCATGCTGGTGATAAATTTCACC
CATTCTTGGAAGAGGGAAAACATTTGTTTAAGATAACATCAGTGCTTCAGCCATAGCTCAGCATGCCCCAGTAGTCTCAGGACCACCATAATGGAGAATC
CTTGTAAATGGTGCAATAAAGCTTCATTCAGAAGTTTGATAATTACAGCTATCATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCA
GACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAARCTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCHCTTTG
TATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACATATGTATGGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCAAAAAA
TAATTCTGGGAAACATGAGTTGAAATGCAGAGTAAACTCAGTACTGCAATCCATAGCAATATTTTGCATATTATTATTTTTTCTTTTAAATTTTTTTCTT
GATCAGATTTATCATATTCATTGAACATTAT

Protein Sequence    (SEQ ID NO:751):
METVSEAGTHQEWSFQQIWEKIASDLTRSQDLVINSSQFSKEGDFPCQTEAGLSVIHTRQKSSQGNGYKPSFSDVSHFDFHQQLHSGEKSHTCDECGKNF
CYISALRIHQRVHMGEKCYKCDVCGKEFSQSSHLQTHQRVHTGEKPFKCVECGKGFSRRSALNVHHKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGE
KPFKCDICGKSFCGRSRLNRHSMVHTAEKPFRCDTCDKSFRQRSALNSHRMIHTGEKPYKCEECGKGFICRRDLYTHHMVHTGEKPYNCKECGKSFRWAS
CLLKHQRVHSGEKPFKCEECGKGFYTNSQCYSHQRSHSGEKPYKCVECGKGYKRRLDLDFHQRVHTGEKLYNCKECGKSFSRAPCLLKHERLHSGEKPFQ
CEECGKRFTQNSHLHSHQRVHTGEKPYKCEKCGKGYNSKFNLDMHQKVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECGKRFTQNSQLHS
HQRVHTGEKPYKCDECGKGFSWSSTRLTHQRRHSRETPLKCEQHGKNIVQNSFSEVQEKVHSVEKPYKCEDCGKGYNRRLNLDMHQRVHMGEKTWKCREC
DMCFSQASSLRLHQNVHVGEKP


SNP Information

Context             (SEQ ID NO:2450):
CTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATA
Y
AATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTG
Celera SNP ID:            hCV27508341
SNP Position Transcript:  2440
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 455, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2451):
AGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAG
Y
TTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCAC
Celera SNP ID:            hCV25651286
SNP Position Transcript:  2464
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,4)   caucasian(C,6|T,30)   total(C,8|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 463, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,163|T,1310)   total(C,163|T,1310) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 463, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2452):
TTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAA
S
GTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAA
Celera SNP ID:            hCV27508342
SNP Position Transcript:  2416
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 447, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:2453):
AGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGG
R
GAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAAT
Celera SNP ID:            hCV11707393
SNP Position Transcript:  2512
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,6|G,32)   total(A,9|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 479, (G,GGA)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,7|G,33)   total(A,23|G,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 479, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 479, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2454):
TCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAG
M
AGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGA
Celera SNP ID:            hCV27508343
SNP Position Transcript:  2414
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 447, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:2455):
ACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACC
W
TTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGT
Celera SNP ID:            hCV11707394
SNP Position Transcript:  2521
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,19)   caucasian(A,7|T,29)   total(A,24|T,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 482, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,3)   caucasian(A,6|T,32)   total(A,9|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 482, (P,CCA)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 482, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2456):
ATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTT
R
ATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCA
Celera SNP ID:            hCV27508344
SNP Position Transcript:  2396
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 441, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:2457):
GGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAG
K
AAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGA
Celera SNP ID:            hCV27508345
SNP Position Transcript:  2389
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 438, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:2458):
GCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTC
R
TGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACC
Celera SNP ID:            hCV27508346
SNP Position Transcript:  1975
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 300, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:2459):
AGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATA
Y
GTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAGAGAGTCCACATGGGAGAGAAATGCTATAAGTGTGACGTGTGTGGT
Celera SNP ID:            hCV22272829
SNP Position Transcript:  1350
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 92, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,3)   total(C,73|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 92, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,29|T,3)   total(C,58|T,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 92, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,3|T,1)   total(C,18|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 92, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,35|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 92, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2460):
GAAACATGAGAGACTCCACAGTGGAGAAAAACCATTCCAATGTGAAGAGTGTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTT
S
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
Celera SNP ID:            hCV27476116
SNP Position Transcript:  2336
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 421, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:2461):
AGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTT
W
GGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGC
Celera SNP ID:            hCV27479780
SNP Position Transcript:  2467
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 464, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:2462):
CTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGA
R
GGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAA
Celera SNP ID:            hCV27469859
SNP Position Transcript:  2415
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 447, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2463):
ACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACC
R
TACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGT
Celera SNP ID:            hCV27479781
SNP Position Transcript:  2437
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 454, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2464):
CATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATA
S
TGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGTAT
Celera SNP ID:            hCV27479782
SNP Position Transcript:  2088
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 338, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:2465):
CTGGTCCTCAACTCGTCTGACCCATCAGAGACGCCACAGCAGAGAAACACCTCTCAAATGTGAGCAGCATGGGAAGAACATTGTACAGAATTCATTCTCT
R
AAGTGCAAGAAAAAGTTCACAGTGTAGAAAAGCCATACAAATGTGAGGACTGTGGGAAGGGCTACAACAGGCGCTTGAATCTTGATATGCATCAGAGGGT
Celera SNP ID:            hCV22274939
SNP Position Transcript:  2738
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,5)   caucasian(A,6|G,30)   total(A,9|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 555, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,14)   caucasian(A,3|G,27)   total(A,9|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 555, (K,AAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 555, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:2466):
ACAGCTATCATTCAGGAGACAGGCCTTAGAAAGAGTAAGAGTTCATGAATTTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAA
R
CTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGCACTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACA
Celera SNP ID:            hCV2814089
SNP Position Transcript:  3345
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:751, None   



Context             (SEQ ID NO:2467):
TGAGATGGAGACTGTTTCAGAAGCAGGAACACATCAAGAGTGGTCCTTCCAGCAAATCTGGGAAAAAATTGCAAGTGATTTAACCAGGTCTCAAGACTTG
R
TGATAAATAGCTCTCAGTTCTCCAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAA
Celera SNP ID:            hCV15861147
SNP Position Transcript:  1172
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,3|G,37)   total(A,10|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 33, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,4|G,36)   total(A,11|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 33, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 33, (M,ATG)   (V,GTG)      33, (V,GTG)   (M,ATG)      



Context             (SEQ ID NO:2468):
GTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGA
R
ACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAA
Celera SNP ID:            hCV27469989
SNP Position Transcript:  2433
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 453, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:2469):
ATCTGCAAACTCATCAGAGAGTCCACACTGGAGAGAAACCGTTCAAATGTGTGGAATGTGGGAAAGGCTTCAGTCGTAGATCAGCACTTAATGTTCATCA
Y
AAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATACGGGGG
Celera SNP ID:            hCV22272456
SNP Position Transcript:  1573
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,14)   caucasian(C,31|T,5)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 166, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,13)   caucasian(C,35|T,5)   total(C,58|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 166, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,2)   caucasian(C,9|T,3)   total(C,13|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 166, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 166, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2470):
GGCTACAATAGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCT
Y
GTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCAT
Celera SNP ID:            hCV25651297
SNP Position Transcript:  2478
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,37|T,1)   total(C,43|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 468, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:2471):
GGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATCGCATGATCCACACAGGAGAGAAACCATAC
R
AATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGG
Celera SNP ID:            hCV25981903
SNP Position Transcript:  1853
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,37|G,1)   total(A,61|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 260, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2472):
ATCATAAATTACACACAGGAGAGAAACCTTATAATTGTGAGGAATGCGGGAAGGCCTTCATTCACGATTCCCAGCTTCAAGAACATCAGAGAATCCATAC
K
GGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCTGTGGTAGATCAAGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCC
Celera SNP ID:            hCV22274456
SNP Position Transcript:  1669
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(G,8|T,2)   total(G,28|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 198, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,4)   caucasian(G,38|T,2)   total(G,60|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 198, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,38|T,2)   total(G,69|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 198, (T,ACG)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,4)   caucasian(G,36|T,2)   total(G,60|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 198, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:2473):
GATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGTGATGTCTCCC
W
CTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCGTATTCATCAG
Celera SNP ID:            hCV22271589
SNP Position Transcript:  1305
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,32)   caucasian(A,3|T,33)   total(A,9|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 77, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|T,30)   caucasian(A,4|T,36)   total(A,12|T,66)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 77, (H,CAC)   (L,CTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(A,3|T,37)   total(A,10|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 77, (H,CAC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,3)      total(A,3|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 77, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:2474):
ACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAA
S
AGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATT
Celera SNP ID:            hCV25981675
SNP Position Transcript:  1946
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,22)   caucasian(G,40)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 291, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2475):
GATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTT
K
AATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATC
Celera SNP ID:            hCV27469860
SNP Position Transcript:  2395
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 440, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:2476):
CAAAGAAGGTGATTTCCCCTGCCAGACTGAGGCAGGACTATCTGTAATTCACACAAGACAGAAATCTTCCCAGGGCAATGGATATAAACCATCCTTCAGT
R
ATGTCTCCCACTTTGATTTTCATCAACAATTACACTCAGGAGAGAAATCTCATACGTGTGATGAGTGTGGAAAGAACTTTTGTTACATCTCAGCCCTTCG
Celera SNP ID:            hCV25641317
SNP Position Transcript:  1295
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 74, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 74, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:2477):
AAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTA
R
GTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAA
Celera SNP ID:            hCV27469861
SNP Position Transcript:  2391
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 439, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2478):
AGACTTAATAGGCATTCCATGGTTCACACGGCAGAGAAACCATTCCGATGTGATACGTGTGATAAGAGCTTTCGTCAGAGATCAGCACTTAATAGTCATC
R
CATGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGA
Celera SNP ID:            hCV25641318
SNP Position Transcript:  1824
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 250, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,40)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 250, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:2479):
GTGGGAAGAGATTTACTCAAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAA
W
AGTAAGTTTAATCTTGATATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTT
Celera SNP ID:            hCV27469862
SNP Position Transcript:  2386
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 437, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:2480):
TTACCAGACTAATGGTGGACATGTCCAAATTGATGTCCACTAGAATGTAAACTACATGTGTCTTTGCTGCTAAGTCGTCACAGCCTTAACATTGATTAGC
H
CTTTGTATGTGTTCAGTACTTGTTTGTTAAATCAATGAAAGGATAAAACATATGTATGGATTTGGATACAATTTTGTGTATCCAAAAAGGGAAGCCTGCA
Celera SNP ID:            hCV2814090
SNP Position Transcript:  3395
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,1|T,1|-,6)   total(A,1|C,1|-,6|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:751, None   



Context             (SEQ ID NO:2481):
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Y
CAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAG
Celera SNP ID:            hCV27469863
SNP Position Transcript:  2074
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 333, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2482):
CATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGA
R
TGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACA
Celera SNP ID:            hCV27469864
SNP Position Transcript:  2032
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 319, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2483):
AAAATTCACATCTTCATTCCCATCAGAGAGTTCACACTGGAGAAAAGCCATACAAATGTGAGAAGTGTGGAAAGGGCTACAATAGTAAGTTTAATCTTGA
Y
ATGCACCAGAAGGTCCACACAGGAGAGAGACCATACAATTGTAAGGAATGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGC
Celera SNP ID:            hCV25641319
SNP Position Transcript:  2404
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 443, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2484):
CTGAGATTTTAGTGTACCCATCACCTGAGTAGTGTACATTGTACCCAACTTGTAGCTTTTTATCCCTTACCCTACCTTCCACCCTCCCCATTTTGAGTCT
S
CATAGTCCATTATATCACTCTGTATGCCTTTGCATACCCATAGCTTAACTCCCACTTATAAGTGAAAACACGGTATTTGGTTTTCCATTCCTGAGTTACT
Celera SNP ID:            hCV26635100
SNP Position Transcript:  353
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:751, None   



Context             (SEQ ID NO:2485):
GGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTC
M
AATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGG
Celera SNP ID:            hCV27469865
SNP Position Transcript:  2021
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 316, (K,AAA)   (Q,CAA)      



Context             (SEQ ID NO:2486):
AGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACAT
S
AGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGG
Celera SNP ID:            hCV27469866
SNP Position Transcript:  1991
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 306, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:2487):
TGTGGGAAGAGTTTTGGCTGGGCCTCGTGTCTTTTGAAACATCAGAGACTGCACAGTGGAGAAAAACCATTCAAATGTGAAGAGTGTGGGAAAAGATTTA
Y
TCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGATGAGTGTGGGAAGGGCTTCAGCTGGTCCTCAACTCGT
Celera SNP ID:            hCV8713541
SNP Position Transcript:  2553
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 493, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:2488):
AACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCA
Y
AGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGACTTTCACCAGCGCGTCCATACAGGAGAGAAACTGT
Celera SNP ID:            hCV27469990
SNP Position Transcript:  2086
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 337, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:2489):
TCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAG
M
GAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGA
Celera SNP ID:            hCV27469991
SNP Position Transcript:  1994
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 307, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:2490):
TGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTAC
W
CAAATTCACAATGCTATTCCCACCAGAGATCCCATAGTGGAGAAAAACCATACAAATGTGTGGAGTGTGGGAAGGGCTACAAAAGGAGGTTGGATCTTGA
Celera SNP ID:            hCV27479793
SNP Position Transcript:  2051
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 326, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:2491):
AGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCC
Y
CGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAATGCTATTCCCA
Celera SNP ID:            hCV27479794
SNP Position Transcript:  1973
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:751, 300, (P,CCG)   (S,TCG)      



Context             (SEQ ID NO:2492):
TGATCCACACAGGAGAGAAACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGA
R
AAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTG
Celera SNP ID:            hCV22272532
SNP Position Transcript:  1927
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,4|G,28)   total(A,6|G,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,22)   caucasian(A,4|G,26)   total(A,12|G,48)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,6|G,32)   total(A,8|G,46)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,7|G,33)   total(A,17|G,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 284, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2493):
AGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAAAGAGTGTGGGAAGAGCTT
Y
AGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGATTTTACACAAATTCACAAT
Celera SNP ID:            hCV27479795
SNP Position Transcript:  1963
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 296, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:2494):
AACCATACAAATGTGAGGAGTGTGGAAAAGGCTTTATTTGTAGGCGAGATCTTTATACGCATCATATGGTCCACACGGGAGAAAAGCCATATAATTGTAA
R
GAGTGTGGGAAGAGCTTCAGATGGGCCTCGTGTCTTTTGAAACATCAGCGAGTCCACAGTGGAGAAAAACCATTCAAATGTGAAGAATGTGGGAAAGGAT
Celera SNP ID:            hCV27479796
SNP Position Transcript:  1945
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:751, 290, (K,AAA)   (K,AAG)      



Gene Number:                 27
Celera Gene:                 hCG16479 - 79000075953849
Celera Transcript:           hCT7517 - 79000075953850
Public Transcript Accession: NM_002990
Celera Protein:              hCP35035 - 197000069410915
Public Protein Accession:    NP_002981
Gene Symbol:                 CCL22
Protein Name:                chemokine (C-C motif) ligand 22;A-152E5.1;ABCD-1;DC/B-CK;MDC;MGC34554;SCYA22;STCP-1
Celera Genomic Axis:         GA_x5YUV32W14H(10957510..10964897)
Chromosome:                  Chr16
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:55):
GAGACATACAGGACAGAGCATGGMTCGCCTACAGACTGCACTCCTGGTTGTCCTCGTCCTCCTTGCTGTGGCGCTTCAAGCAACTGAGGCAGGCCCCTAY
GGCGCCAACATGGAAGACAGCGTCTGCTGCCGTGATTACGTCCGTTACCGTCTGCCCCTGCGCGTGGTGAAACACTTCTACTGGACCTCAGACTCCTGCC
CGAGGCCTGGCGTGGTGTTGCTAACCTTCAGGGATAAGGAGATCTGTGCYGATCCCAGAGTGCCCTGGGTGAAGATGATTCTCAATAAGCTGAGCCAATG
AAGAGCCTACTCTGATGACCGTGGCCTTGGCTCCTCCAGGAAGGCTCAGGAGCCCTACCTCCCTGCCATTATAGCTGCTCCCCGCCAGAAGCCTGTGCCA
ACTCTCTGCATTCCCTGATCTCCATCCCTGTGGCTGTCACCCTTGGTCACCTCCGTGCTGTCACTGCCATCTCCCCCCTGACCCCTCTAACCCATCCTCT
GCCTCCCTCCCTGCAGTCAGAGGGTCCTGTTCCCATCAGCGATTCCCCTGCTTAAACCCTTCCATGACTCCCCACTGCCCTAAGCTGAGGTCAGTCTCCC
AAGCCTGGCATGTGGCCCTCTGGATCTGGGTTCCATCTCTGTCTCCAGCCTGCCCACTTCCCTTCATGAATGTTGGGTTCTAGCTCCCTRTTCTCCAAAC
CCATACTACACATCCCACTTCTGGGTCTTTGCCTGGGATGTTGCTGACACYCAGAAAGTCCCACCACCTGCACATGTGTAGCCCCACCAGCCCTCCAAGG
CATTGCTCGCCCAAGCAGCTGGTAATTCCATTTCATGTATTAGATGTCCCCTGGCCCTCTGTCCCCTCTTAATAACCCTAGTCACAGTCTCCGCAGATTC
TTGGGATTTGGGGGTTTTCTCCCCCACCTCTCCACTAGTTGGACCAAGGTTTCTAGCTAAGTTACTCTAGTCTCCAAGCCTCTAGCATAGAGCACTGCAG
ACAGGCCCTGGCTCAGAATCAGAGCCCAGAAAGTGGCTGCAGACAAAATCAATAAAACTAATGTCCCTCCCCTCTCCCTGCCAAAAGGCAGTTACATATC
AATACAGAGACTCAAGGTCACTAGAAATGGGCCAGCTGGGTCAATGTGAAGCCCCAAATTTGCCCAGATTCACCTTTCTTCCCCCACTCCCTTTTTTTTT
TTTTTTTTTGAGATGGAGTTTCGCTCTTGTCACCCACGCTGGAGTGCAATGGTGTGGTCTTGGCTTATTGAAGCCTCTGCCTCCTGGGTTCAAGTGATTC
TCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTTCCTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGCTTCACCATGTTGGC
CAGGCTGGTCTCGAACTCCTGTCCTCAGGTAATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGTGCCTGGCCTCTTCCCT
CTCCCCACTSCCCCCCCCAACTTTTTTTTTTTTTTTATGGCAGGGTCTCACTCTGTYGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACAAC
CTCGACCTCCTGGGTTCAAGYGATTCTCCCACCCCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACTACGGCTGGCTAATTTTTGTATTTTTAG
TAGMGACAGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTTCCTTGTGCTCCCAAAGTGCTGAGATTACAGGCGTG
AGCTATCACACCCAGCCTCCCCCTTTTTTTCCTAATAGGAGACTCCTGTACCTTTCTTCGTTTTACCTATGTGTCGTGTCTGCTTACATTTCCTTCTCCC
CTCAGGCTTTTTTTGGGTGGTCCTCCAACCTCCAATACCCAGGCCTGGCCTCTTCAGAGTACCCCCCATTCCACTTTCCCTGCCTCCTTCCTTAAATAGC
TGACAATCAAATTCATGCTATGGTGTGAAAGACTACCTTTGACTTGGTATTATAAGCTGGAGTTATATATGTATTTGAAAACAGAGTAAATACTTAAGAG
GCCAAATAGATGAATGGAAGAATTTTAGGAACTGTGAGAGGGGGACAAGGTGRAGCTTTCCTGGCCCTGGGAGGAAGCTGGCTGTGGTAGCGTAGCGCTC
TCTCTCTCTGTCTGTGGCAGGAGSCAAAGAGTAGGGTGTAATTGAGTGAAGGAATCCTGGGTAGAGACCATTCTCAGGTGGTTGGGCCAGGCTAAAGACT
GGGATWTGGGTCTATCTATGCCTTTCTGGCTGATTTTTGTAGAGACGGGGTTTTGCCATGTTACCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCC
TCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAYTCACTGCGCCTGGCTTCCTCTTCCTCTTGAGAAATATTCTTTTCATACAGCAAGTATG
GGACAGCAGTGTCCCAGGTAAAGGACATAAATGTTACAAGTGTCTGGTCCTTTCTGAGGGAGGCTGGTGCCGCTCTGCAGGGTATTTGAACCTGTGGAAT
TGGAGGAGGCCATTTCACTCCCTGAACCCAGCCTGACAAATCACAGTGAGAATGTTCACCTTATAGGCTTGCTGTGGGGCTCAGGTTGAAAGTGTGGGGA
GTGACACTGCCTAGGCATCCAGCTCAGTGTCATCCAGGGCCTGTGTCCCTCCCGAACCCAGGGTCAACCTGCCTRCCACAGGCACTAGAAGGACGAATCT
GCCTACTGCCCATGAACGGGGCCCTCAAGCGTCCTGGGATCTCCTTCTCCCTCCTGTCCTGTCCTTGCCCCTCAGGACTGCTGGAAAATAAATCCTTTAA
AATAGT

Protein Sequence    (SEQ ID NO:752):
MARLQTALLVVLVLLAVALQATEAGPYGANMEDSVCCRDYVRYRLPLRVVKHFYWTSDSCPRPGVVLLTFRDKEICADPRVPWVKMILNKLSQ


SNP Information

Context             (SEQ ID NO:2495):
TTTAGGAACTGTGAGAGGGGGACAAGGTGAAGCTTTCCTGGCCCTGGGAGGAAGCTGGCTGTGGTAGCGTAGCGCTCTCTCTCTCTGTCTGTGGCAGGAG
S
CAAAGAGTAGGGTGTAATTGAGTGAAGGAATCCTGGGTAGAGACCATTCTCAGGTGGTTGGGCCAGGCTAAAGACTGGGATTTGGGTCTATCTATGCCTT
Celera SNP ID:            hCV8805515
SNP Position Transcript:  2224
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2496):
GTCAGTCTCCCAAGCCTGGCATGTGGCCCTCTGGATCTGGGTTCCATCTCTGTCTCCAGCCTGCCCACTTCCCTTCATGAATGTTGGGTTCTAGCTCCCT
R
TTCTCCAAACCCATACTACACATCCCACTTCTGGGTCTTTGCCTGGGATGTTGCTGACACTCAGAAAGTCCCACCACCTGCACATGTGTAGCCCCACCAG
Celera SNP ID:            hCV2845062
SNP Position Transcript:  690
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,6)   total(G,6|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2497):
GAGACATACAGGACAGAGCATGGCTCGCCTACAGACTGCACTCCTGGTTGTCCTCGTCCTCCTTGCTGTGGCGCTTCAAGCAACTGAGGCAGGCCCCTA
Y
GGCGCCAACATGGAAGACAGCGTCTGCTGCCGTGATTACGTCCGTTACCGTCTGCCCCTGCGCGTGGTGAAACACTTCTACTGGACCTCAGACTCCTGCC
Celera SNP ID:            hCV25641681
SNP Position Transcript:  100
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36)   total(C,70|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:752, 27, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:2498):
TGCTGGGATTACAGGCGTGAGCCACAGTGCCTGGCCTCTTCCCTCTCCCCACTCCCCCCCCCAACTTTTTTTTTTTTTTTATGGCAGGGTCTCACTCTGT
Y
GCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACAACCTCGACCTCCTGGGTTCAAGTGATTCTCCCACCCCAGCCTCCCAAGTAGCTGGGATT
Celera SNP ID:            hCV26191520
SNP Position Transcript:  1557
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2499):
TGCCCACTTCCCTTCATGAATGTTGGGTTCTAGCTCCCTGTTCTCCAAACCCATACTACACATCCCACTTCTGGGTCTTTGCCTGGGATGTTGCTGACAC
Y
CAGAAAGTCCCACCACCTGCACATGTGTAGCCCCACCAGCCCTCCAAGGCATTGCTCGCCCAAGCAGCTGGTAATTCCATTTCATGTATTAGATGTCCCC
Celera SNP ID:            hCV2392430
SNP Position Transcript:  751
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)   JBIC-allele(C,235|T,1258)   total(C,235|T,1258)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2500):
CTTTTTTTTTTTTTTTATGGCAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACAACCTCGACCTCCTGGGTTCAAG
Y
GATTCTCCCACCCCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACTACGGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCACCATAT
Celera SNP ID:            hCV26191521
SNP Position Transcript:  1621
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2501):
TGGGGCTCAGGTTGAAAGTGTGGGGAGTGACACTGCCTAGGCATCCAGCTCAGTGTCATCCAGGGCCTGTGTCCCTCCCGAACCCAGGGTCAACCTGCCT
R
CCACAGGCACTAGAAGGACGAATCTGCCTACTGCCCATGAACGGGGCCCTCAAGCGTCCTGGGATCTCCTTCTCCCTCCTGTCCTGTCCTTGCCCCTCAG
Celera SNP ID:            hCV2845057
SNP Position Transcript:  2775
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2502):
GACCTCCTGGGTTCAAGTGATTCTCCCACCCCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACTACGGCTGGCTAATTTTTGTATTTTTAGTAG
M
GACAGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTTCCTTGTGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCT
Celera SNP ID:            hCV26191522
SNP Position Transcript:  1704
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2503):
CTCTGTCTGTGGCAGGAGGCAAAGAGTAGGGTGTAATTGAGTGAAGGAATCCTGGGTAGAGACCATTCTCAGGTGGTTGGGCCAGGCTAAAGACTGGGAT
W
TGGGTCTATCTATGCCTTTCTGGCTGATTTTTGTAGAGACGGGGTTTTGCCATGTTACCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGG
Celera SNP ID:            hCV2845058
SNP Position Transcript:  2306
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|T,6)   total(A,1|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2504):
GAGACGGGGTTTTGCCATGTTACCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
Y
TCACTGCGCCTGGCTTCCTCTTCCTCTTGAGAAATATTCTTTTCATACAGCAAGTATGGGACAGCAGTGTCCCAGGTAAAGGACATAAATGTTACAAGTG
Celera SNP ID:            hCV2392426
SNP Position Transcript:  2442
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2505):
TAAGCTGGAGTTATATATGTATTTGAAAACAGAGTAAATACTTAAGAGGCCAAATAGATGAATGGAAGAATTTTAGGAACTGTGAGAGGGGGACAAGGTG
R
AGCTTTCCTGGCCCTGGGAGGAAGCTGGCTGTGGTAGCGTAGCGCTCTCTCTCTCTGTCTGTGGCAGGAGGCAAAGAGTAGGGTGTAATTGAGTGAAGGA
Celera SNP ID:            hCV2392427
SNP Position Transcript:  2153
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,641|A,852)   total(G,641|A,852)   no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2506):
TTACATATCAATACAGAGACTCAAGGTCACTAGAAATGGGCCAGCTGGGTCAATGTGAAGCCCCAAATTTGCCCAGATTCACCTTTCTTCCCCCACTCCC
T
TTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTCACCCACGCTGGAGTGCAATGGTGTGGTCTTGGCTTATTGAAGCCTCTGCCTCCTGGGTTCA
Celera SNP ID:            hCV26191519
SNP Position Transcript:  1192
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,3)   total(T,3|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Context             (SEQ ID NO:2507):
GTCTGCCCCTGCGCGTGGTGAAACACTTCTACTGGACCTCAGACTCCTGCCCGAGGCCTGGCGTGGTGTTGCTAACCTTCAGGGATAAGGAGATCTGTGC
Y
GATCCCAGAGTGCCCTGGGTGAAGATGATTCTCAATAAGCTGAGCCAATGAAGAGCCTACTCTGATGACCGTGGCCTTGGCTCCTCCAGGAAGGCTCAGG
Celera SNP ID:            hCV16172122
SNP Position Transcript:  250
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,37|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:752, 77, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:2508):
GAGACATACAGGACAGAGCATGG
M
TCGCCTACAGACTGCACTCCTGGTTGTCCTCGTCCTCCTTGCTGTGGCGCTTCAAGCAACTGAGGCAGGCCCCTACGGCGCCAACATGGAAGACAGCGTC
Celera SNP ID:            hCV3268420
SNP Position Transcript:  24
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,3|C,31)   total(A,3|C,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:752, 2, (D,GAT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|C,9)      total(A,3|C,9) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:752, 2, (D,GAT)   (A,GCT)      



Context             (SEQ ID NO:2509):
CTCGAACTCCTGTCCTCAGGTAATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGTGCCTGGCCTCTTCCCTCTCCCCACT
S
CCCCCCCCAACTTTTTTTTTTTTTTTATGGCAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACAACCTCGACCTCC
Celera SNP ID:            hCV11778299
SNP Position Transcript:  1510
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,6)   total(G,1|C,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:752, None   



Gene Number:                 28
Celera Gene:                 hCG1651775 - 30000023000758
Celera Transcript:           hCT1651902 - 30000023000760
Public Transcript Accession: NM_052872
Celera Protein:              hCP1626183 - 197000069366935
Public Protein Accession:    NP_443104
Gene Symbol:                 IL17F
Protein Name:                interleukin 17F;IL-17F;IL-24;IL-26;IL24;ML-1;ML1
Celera Genomic Axis:         GA_x5YUV32W6W6(25226928..25234746)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:56):
GATAGAACACAGGCATACACAGGAAGATACATTCACAGAAAGAGCTTCCTGCACAAAGTAAGCCACCAGCGCAACATGACAGTGAAGACCCTGCATGGCC
CAGCCATGGTCAAGTACTTGCTGCTGTCGATATTGGGGCTTGCCTTTCTGAGTGAGGCGGCAGCTCGGAAAATCCCCAAAGTAGGACATACTTTTTTCCA
AAAGCCTGAGAGTTGCCCGCCYGTGCCAGGAGGTAGTATGAAGCTTGACATTGGCATCATCAATGAAAACCAGCGCGTTTCCATGTCACGTAACATCGAG
AGCCGCTCCACCTCCCCCTGGAATTACACTGTCACTTGGGACCCCAACCGGTACCCCTCGGAAGTTGTACAGGCCCRGTGTAGGAACTTGGGCTGCATCA
ATGCTCAAGGAAAGGAAGACATCTCCATGAATTCCGTTCCCATCCAGCAAGAGACCCTGGTCRTCCGGAGGAAGCACCAAGRCTGCTCTGTTTCTTTCCA
GTTGGAGAAGGTGCTGGTGACTGTTGGCTGCACCTGCGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATATCCACTCAGCTGAAGAAGCTGTA
GAAATGCCACTCCTTACCCAGTGCTCTGCAACAAGTCCTGTCTGACCCCCAATTCCCTCCACTTCACAGGACTCTTAATAAGACCTGCACGGATGGAAAC
AGAAAATATTCACAATGTATGTGTGTATGTACTACACTTTATATTTGATATCTAAAATGTTAGGAGAAAAATTAATATATTCAGTGCTAATATAATAAAG
TATTAATAAT

Protein Sequence    (SEQ ID NO:753):
MTVKTLHGPAMVKYLLLSILGLAFLSEAAARKIPKVGHTFFQKPESCPPVPGGSMKLDIGIINENQRVSMSRNIESRSTSPWNYTVTWDPNRYPSEVVQA
QCRNLGCINAQGKEDISMNSVPIQQETLVVRRKHQGCSVSFQLEKVLVTVGCTCVTPVIHHVQ


SNP Information

Context             (SEQ ID NO:2510):
AGGAACTTGGGCTGCATCAATGCTCAAGGAAAGGAAGACATCTCCATGAATTCCGTTCCCATCCAGCAAGAGACCCTGGTCGTCCGGAGGAAGCACCAAG
R
CTGCTCTGTTTCTTTCCAGTTGGAGAAGGTGCTGGTGACTGTTGGCTGCACCTGCGTCACCCCTGTCATCCACCATGTGCAGTAAGAGGTGCATATCCAC
Celera SNP ID:            hCV2234166
SNP Position Transcript:  482
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36|G,2)   total(A,69|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:753, 161, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:753, 161, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:2511):
GTTTCCATGTCACGTAACATCGAGAGCCGCTCCACCTCCCCCTGGAATTACACTGTCACTTGGGACCCCAACCGGTACCCCTCGGAAGTTGTACAGGCCC
R
GTGTAGGAACTTGGGCTGCATCAATGCTCAAGGAAAGGAAGACATCTCCATGAATTCCGTTCCCATCCAGCAAGAGACCCTGGTCGTCCGGAGGAAGCAC
Celera SNP ID:            hCV2488913
SNP Position Transcript:  377
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,34|G,2)   total(A,68|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:753, 126, (E,GAG)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,6)      total(G,2|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:753, 126, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:2512):
AGTTGTACAGGCCCAGTGTAGGAACTTGGGCTGCATCAATGCTCAAGGAAAGGAAGACATCTCCATGAATTCCGTTCCCATCCAGCAAGAGACCCTGGTC
R
TCCGGAGGAAGCACCAAGGCTGCTCTGTTTCTTTCCAGTTGGAGAAGGTGCTGGTGACTGTTGGCTGCACCTGCGTCACCCCTGTCATCCACCATGTGCA
Celera SNP ID:            hCV25765149
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,4|G,34)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:753, 155, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:2513):
TGCTGTCGATATTGGGGCTTGCCTTTCTGAGTGAGGCGGCAGCTCGGAAAATCCCCAAAGTAGGACATACTTTTTTCCAAAAGCCTGAGAGTTGCCCGCC
Y
GTGCCAGGAGGTAGTATGAAGCTTGACATTGGCATCATCAATGAAAACCAGCGCGTTTCCATGTCACGTAACATCGAGAGCCGCTCCACCTCCCCCTGGA
Celera SNP ID:            hCV25766100
SNP Position Transcript:  222
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:753, 74, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:753, 74, (I,ATC)   (I,ATT)      



Gene Number:                 29
Celera Gene:                 hCG1653633 - 146000220319415
Celera Transcript:           hCT1653760 - 146000220319416
Public Transcript Accession: NM_022147
Celera Protein:              hCP1622850 - 197000064918968
Public Protein Accession:    NP_071430
Gene Symbol:                 IFRG28
Protein Name:                28kD interferon responsive protein
Celera Genomic Axis:         GA_x5YUV32VYQG(8238124..8241812)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:57):
TTCCTGAGAAACGAGCAAACCTGAAAGCTACTCTCTCAGCTTCAGAGGGAAAAAATGGTTGTAGATTTCTGGACTTGGGAGCAGACATTTCAAGAACTAA
TCCAAGAGGCAAAACCCCGGGCCACATGGACGCTGAAGTTGGATGGCAACCTTCAGCTAGACTGCCTGGCTCAAGGGTGGAAGCAATACCAACAGAGAGC
ATTTGGCTGGTTCCGGTGTTCCTCCTGCCAGCGAAGTTGGGCTTCYGCCCAAGTGCAGATTCTGTGCCACACGTACTGGGAGCACTGGAYATCCCAGGGT
CAGGTGCGTATGAGGCTCTTTGGCCAAAGGTGCCAGAAGTGCTCCTGGTCCCAATATGAGATGCCTGAGTTCTCCTCGGATAGCACCATGAGGATTCTGA
GCAACCTGGTGCAGCATATACTGAAGAAATACTATGGAAATGGCAYGAGGAAGTCTCCAGAAATGCCAGTAATCCTGGAAGTGTCCCTGGAAGGATCCCA
TGACACAGCCAATTGTGAGGCATGCACTTTGGGCATMTGTGGACAGGGCTTAAAAARCTRCATGACAAAGCCGTCCAAATCCCTACTCCCCCACCTAAAG
ACTGGGAATTCCTCACCTGGAATTGGTGCTGTGTACCTCGCAAACCAAGCCAAGAACCAGTCAGMTGAGGCAAAAGAGGCTAAGGGGAGTGGGTATGAGA
AATTAGGGCCCAGTCGAGACCCAGATCCACTGAACATCTGTGTCTTTATTTTGCTGCTTGTATTTATTGTAGTCAAATGCTTTACATCAGAATGATGAAA
ATAGGCTTGCCACTKTCTCTTATTTTAATTCCATGGTAGTCAATGAACTGGCTGCCACTTTAATATAACTGAAAATTCATTTTGAGACCAAGCAGGATCA
AGTTTGTAGAATAAACACTGGTTTCCTAGCYATCCTCTGAAAACAGTATGAAACMTGACCAAGTACATAATGGATTTAGTAATAAATATTGYCGAATTGC
TAAAAAGTCTTCAATCATTCATTCACTAAGTCACTCAGTGATATCAATATACTTAGCTCAGAAAGTGTGGGAGGCTGAATAATGGTGTCTCCCAACATAT
GCATGACTTAATCCCCAGAACCTGTAAACATGTTACTTTACATGGTAGAATGGACTTTGCGGATGTAATTAAGGACCTTGAAATGGTTAGATTATTTCAT
AYTGTCCGGGTGGATAAGAACCAGGATTTTGTAACAGGGAGGCAACAAGCTCAAAATCAGAAAAAAGAGATTTGTCAATGGAACAAGAGGTTGAAGTGCT
TTGAAGTTGGAGGAAGAGGTCACAGGCAAAAAAGTACAGGCAGCCTTTAGAAACCCAAAAGGACAAAGGAACAGATTCTCCCCTGGAGTCTGCAGAAGGA
ACCAGCCCTGCCTGCACATGGCTTTAGCCCAGTGACACTGATTTTGGACATCTGACCTTCAGAACTGCTTGCTCATAAACTTGTCTTGTTTTAATG

Protein Sequence    (SEQ ID NO:754):
MVVDFWTWEQTFQELIQEAKPRATWTLKLDGNLQLDCLAQGWKQYQQRAFGWFRCSSCQRSWASAQVQILCHTYWEHWTSQGQVRMRLFGQRCQKCSWSQ
YEMPEFSSDSTMRILSNLVQHILKKYYGNGTRKSPEMPVILEVSLEGSHDTANCEACTLGICGQGLKSCMTKPSKSLLPHLKTGNSSPGIGAVYLANQAK
NQSAEAKEAKGSGYEKLGPSRDPDPLNICVFILLLVFIVVKCFTSE


SNP Information

Context             (SEQ ID NO:2514):
CCATGGTAGTCAATGAACTGGCTGCCACTTTAATATAACTGAAAATTCATTTTGAGACCAAGCAGGATCAAGTTTGTAGAATAAACACTGGTTTCCTAGC
Y
ATCCTCTGAAAACAGTATGAAACATGACCAAGTACATAATGGATTTAGTAATAAATATTGTCGAATTGCTAAAAAGTCTTCAATCATTCATTCACTAAGT
Celera SNP ID:            hCV26425969
SNP Position Transcript:  931
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:754, None   



Context             (SEQ ID NO:2515):
GCAGGATCAAGTTTGTAGAATAAACACTGGTTTCCTAGCCATCCTCTGAAAACAGTATGAAACATGACCAAGTACATAATGGATTTAGTAATAAATATTG
Y
CGAATTGCTAAAAAGTCTTCAATCATTCATTCACTAAGTCACTCAGTGATATCAATATACTTAGCTCAGAAAGTGTGGGAGGCTGAATAATGGTGTCTCC
Celera SNP ID:            hCV29113731
SNP Position Transcript:  992
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:754, None   



Context             (SEQ ID NO:2516):
GAAATGGCACGAGGAAGTCTCCAGAAATGCCAGTAATCCTGGAAGTGTCCCTGGAAGGATCCCATGACACAGCCAATTGTGAGGCATGCACTTTGGGCAT
M
TGTGGACAGGGCTTAAAAAGCTGCATGACAAAGCCGTCCAAATCCCTACTCCCCCACCTAAAGACTGGGAATTCCTCACCTGGAATTGGTGCTGTGTACC
Celera SNP ID:            hCV8832498
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,11)   caucasian(A,11|C,19)   total(A,24|C,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:754, 161, (I,ATA)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4)   caucasian(A,6|C,16)   total(A,6|C,20)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:754, 161, (I,ATA)   (I,ATC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:754, 161, (I,ATA)   (I,ATC)      



Context             (SEQ ID NO:2517):
GAAATGCCAGTAATCCTGGAAGTGTCCCTGGAAGGATCCCATGACACAGCCAATTGTGAGGCATGCACTTTGGGCATCTGTGGACAGGGCTTAAAAAGCT
R
CATGACAAAGCCGTCCAAATCCCTACTCCCCCACCTAAAGACTGGGAATTCCTCACCTGGAATTGGTGCTGTGTACCTCGCAAACCAAGCCAAGAACCAG
Celera SNP ID:            hCV8832499
SNP Position Transcript:  560
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,5)   caucasian(A,22|G,10)   total(A,33|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 169, (Y,TAC)   (C,TGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 169, (C,TGC)   (Y,TAC)      169, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:2518):
CCACTTTAATATAACTGAAAATTCATTTTGAGACCAAGCAGGATCAAGTTTGTAGAATAAACACTGGTTTCCTAGCCATCCTCTGAAAACAGTATGAAAC
M
TGACCAAGTACATAATGGATTTAGTAATAAATATTGTCGAATTGCTAAAAAGTCTTCAATCATTCATTCACTAAGTCACTCAGTGATATCAATATACTTA
Celera SNP ID:            hCV27900830
SNP Position Transcript:  955
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:754, None   



Context             (SEQ ID NO:2519):
CAACAGAGAGCATTTGGCTGGTTCCGGTGTTCCTCCTGCCAGCGAAGTTGGGCTTCCGCCCAAGTGCAGATTCTGTGCCACACGTACTGGGAGCACTGGA
Y
ATCCCAGGGTCAGGTGCGTATGAGGCTCTTTGGCCAAAGGTGCCAGAAGTGCTCCTGGTCCCAATATGAGATGCCTGAGTTCTCCTCGGATAGCACCATG
Celera SNP ID:            hCV11684900
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,34|T,4)   total(C,68|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 79, (T,ACA)   (I,ATA)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 79, (T,ACA)   (I,ATA)      



Context             (SEQ ID NO:2520):
ACAAAGCCGTCCAAATCCCTACTCCCCCACCTAAAGACTGGGAATTCCTCACCTGGAATTGGTGCTGTGTACCTCGCAAACCAAGCCAAGAACCAGTCAG
M
TGAGGCAAAAGAGGCTAAGGGGAGTGGGTATGAGAAATTAGGGCCCAGTCGAGACCCAGATCCACTGAACATCTGTGTCTTTATTTTGCTGCTTGTATTT
Celera SNP ID:            hCV8832551
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,16)   caucasian(A,19|C,21)   total(A,31|C,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 204, (D,GAT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 204, (D,GAT)   (A,GCT)      



Context             (SEQ ID NO:2521):
CATGACTTAATCCCCAGAACCTGTAAACATGTTACTTTACATGGTAGAATGGACTTTGCGGATGTAATTAAGGACCTTGAAATGGTTAGATTATTTCATA
Y
TGTCCGGGTGGATAAGAACCAGGATTTTGTAACAGGGAGGCAACAAGCTCAAAATCAGAAAAAAGAGATTTGTCAATGGAACAAGAGGTTGAAGTGCTTT
Celera SNP ID:            hCV8832560
SNP Position Transcript:  1202
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:754, None   



Context             (SEQ ID NO:2522):
CGAGACCCAGATCCACTGAACATCTGTGTCTTTATTTTGCTGCTTGTATTTATTGTAGTCAAATGCTTTACATCAGAATGATGAAAATAGGCTTGCCACT
K
TCTCTTATTTTAATTCCATGGTAGTCAATGAACTGGCTGCCACTTTAATATAACTGAAAATTCATTTTGAGACCAAGCAGGATCAAGTTTGTAGAATAAA
Celera SNP ID:            hCV25643941
SNP Position Transcript:  815
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,40)   total(G,1|T,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:754, None



Context             (SEQ ID NO:2523):
CCAGAAATGCCAGTAATCCTGGAAGTGTCCCTGGAAGGATCCCATGACACAGCCAATTGTGAGGCATGCACTTTGGGCATCTGTGGACAGGGCTTAAAAA
R
CTGCATGACAAAGCCGTCCAAATCCCTACTCCCCCACCTAAAGACTGGGAATTCCTCACCTGGAATTGGTGCTGTGTACCTCGCAAACCAAGCCAAGAAC
Celera SNP ID:            hCV25643942
SNP Position Transcript:  557
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(A,2|G,34)   total(A,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 168, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:2524):
TGGTCCCAATATGAGATGCCTGAGTTCTCCTCGGATAGCACCATGAGGATTCTGAGCAACCTGGTGCAGCATATACTGAAGAAATACTATGGAAATGGCA
Y
GAGGAAGTCTCCAGAAATGCCAGTAATCCTGGAAGTGTCCCTGGAAGGATCCCATGACACAGCCAATTGTGAGGCATGCACTTTGGGCATCTGTGGACAG
Celera SNP ID:            hCV1750667
SNP Position Transcript:  446
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,24|T,12)   total(C,51|T,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 131, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,7)   caucasian(C,21|T,9)   total(C,34|T,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 131, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:754, 131, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:2525):
GCAACCTTCAGCTAGACTGCCTGGCTCAAGGGTGGAAGCAATACCAACAGAGAGCATTTGGCTGGTTCCGGTGTTCCTCCTGCCAGCGAAGTTGGGCTTC
Y
GCCCAAGTGCAGATTCTGTGCCACACGTACTGGGAGCACTGGACATCCCAGGGTCAGGTGCGTATGAGGCTCTTTGGCCAAAGGTGCCAGAAGTGCTCCT
Celera SNP ID:            hCV1750668
SNP Position Transcript:  246
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,29|T,9)   total(C,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:754, 64, (S,TCC)   (S,TCT)   



Gene Number:                 30
Celera Gene:                 hCG1654640 - 84000314408112
Celera Transcript:           hCT1654767 - 84000314408113
Public Transcript Accession: 
Celera Protein:              hCP1630665 - 197000064919436
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VYQG(10442047..10515308)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:58):
GCCCGGACCCGGTCGCAGCGCCCGGGGCGGCTCCTCCTCGAGCCTGGGACCGCCGCGCTCCCGCCGCCGCCGCGTGCTGGCGTGACTCCCGGCCCGTGCC
GCGCCCTCCCGCGTCCGCAGCCGGCTCGGCTTCCTGCCCACCCAGACGTCGCTTCTCCCGGGCTCCCGGTGTCGGCTCCGCGCGGAGGGAGAGGAAATGA
GTGCGGCGGCCTCGCCGGCGTCGGAGCGGGGTTGGAAGAGCGAGAAACTAGATGAGGCTCAGGCCCTRGCGCGGAGTTGCGCCGCCCGCAGACCCGACTT
CCAGCCGTGCGACGGGCTGTCTATCTGTGCCACGCACAGCCATGGCAAGTGCTTCAAGCTGCACTGGTGCTGTCACCTAGGATGGTGTCACTGCAAATAC
ATGTATCAGCCTATGACCCCTGTGGAACAGCTTCCAAGCACTGAGATTCCTGCCAGGCCTCGGGAACCCACAAACACCATTCAGATCTCAGTCTCGCTCA
CCGAACACTTTTTGAAATTTGCATCTGTCTTCCAGCCTCCCCTTCCCCCTGACTCACCGAGGTACTGTATGATTTCAGACCTTTTTATTGACAACTATCA
GGTTAAATGTATTAATGGGAAGATGTGTTATGTGCAGAAGCAGCYRGCAYCACATTCCCACAGAATGAGCCCTGAGGAGGTCTCTGCACACGATGCCTTA
ATTTCAAAAGAGAGCAATACACCAAAAATAGATCACTGCTCTTCTCCCTCAAGTTCTGAGGACTCTGGGATCAATGCGATTGGGGCTCACTATGTGGAAT
CGTGTGACGAGGACACAGAAGAAGGAGCAGAACTGAGTTCAGAGGAAGATTACAGTCCAGAGAGCAGCTGGGAACCGGATGAGTGCACCCTTCTCTCCCC
CTCGCAGTCTGACCTGGAAGTGATTGAAACGATAGAAACGACTGTGTGAGMGTCCAGACAGGAAGCCACAGCCTCGGACCCACGCCGAGCTTTTGTACCT
TTGTCTGGTGGATCCTTTTTTCCAATGCTGTTGATATTTTCTACCCACCCCGCCCCGCTCCAACCAACAACCGTAGCAGTTCAGTGGTATGCTGATTAGC
TTCTCTCCGTCTTACAACTAAGACATTCTTTTTATTATAAACAGTTTTCTTTTGTATCCTGACTTACTTTCTATGTAGCATCTGGTGTCATGAATTGTGA
CCCCGCCTTAATTTCACTGGGAGATTTGAAGGCGGTGAAGTGATGGTCGCAGAGAATCTTGGATCAGATTGAGGAGGTACCGAAAGGGAAGGAGCCGGTG
TTTTCTCGGTAGCCAGTCCTTCACAGAGACTCTTGCCATTCCCTTTGGCATGTTCACAGGCACTCCCGTCCTGTCCTGCTTGTCCTACGCAAGTAGCACT
CCCTACTGAGTGTGCACTGGTAGATGCCGTTTCTTCCCTTCCCCTTCTCCCCACACCTGCACTGGGTCTGGATCAGAGCTGCCTCGGCTTACTTCTGGGA
GGTCACTGGAGGCCAGCTCAGCCCATGGTTTGTGGCCAGTGTCTGTACAAGGCTCCGTGACTGGGGCTGAGCTAAACATTCACATGAGAAGAGATGACCT
CATCTGTCTCATGCTCAATCCAGCCTTAGCTGAGCACCTGTCCCCTGCAGGGGGCTGTGGGGACACAGCATGAATAAGACCTGATTCCCACCATGAAGGG
GCCCACAGTCCTATATATGACACATTCAACTCATGGCACCCAAAAAGCTCTGGGAACCCAGGGGAAGGATGAGGTTTACTTGGCTGGGGCTAGCTGGGGA
ATGTGTTTCAGCATTTGAGCTGGCTTCTTGGTGGGTTCCCCAACATTTTTCTGCTTTTAATTGTTCTTCAAGTCTGGGAAAAACTCTTAGGAAGTTATAT
AGGTATCACATTTAGGTGGCAGCCACATCTGACATCTTAAGGAAAAAAAATAAATTAATAGTTTTAGTTAGCATGGAAATGCTACAGACAGAAGCCCTTT
AGGGATTAGGACTGAATCTAATAGGTTTGATTAATTCTGCTTCATTTGGTTGTATGAAGCATTCGTATGGTTTAAGTGAGGAATGGATTAGAATTCAGTG
TGATGCATGGATTTTTATGCAGCTGCAAAAGCAGTTGAAATAGTTTGCTGCTAAGTCAGGAGAAAATATCCAGTGTAATAGCCATTCACTTTCCCACACA
GTCTGTCTGTTGTATGTGTTCTCTCCCCTCACATGCACAAAATAGTGACTAATTCTTTCTTATTTAGCTCTCTTCAGAATTCTACTTCTACTCTCCATTT
ATACCAGGTATTCTTGTGAGTCAGTTAACTGCTATTTCTCCAAACCTTCTATCCATGAGGCATAGTTTCAAATCCTGGAAATTTTAAGTATGGCCTAATG
AGAACATCAGAGTTGGAGACAGAACAGTACTTCCATCCTAACTATCCAGAAGCGCRCTCTCAGGCCATTGTGCTCTGAGATTCCCTTGTGCTCTGGCACC
ATTATGGTACATCTCTACGTCACATTAATTTTTTTTTTTTTGAGATGGAGTTTCCCTCTTGCTGCCCAGGCTGGAGTGCAGCGGCGTGATCTTGGCTCTC
TACAACCTCTGCCTCCTGGGGTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATGGGCACGTGCCACCACACCTGGCTAATTTTTTGTA
TTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTGACCTTGTGATCCACCCACCTCGGCCTCCCCAAGTGCTGGGATTACAAGC
ATGAGCCACCACGCCCGGCCGGATTTGTAAGAAAAAGTTGTGTTCTCCCCTGAAGCCTCCATTTGGCATCATTCACAAACTACTCAAGGAAGAATTTGCT
TTCCCAGTTGTATGTATAATTTAAGTCGTTTACTAGATAGAACTTTTTTTTAGGTTTAGATGGCCAAGACATCTATATGGTTTAGAAGGCAGAGTATACA
TTTTCCTTTGCAAACAGTATGAGTTAAAACTTTCTATGCTAAATGAGAATGCGGCATAAAGTCTCCACTTACTGAAATTTAAAGATTCAACAAGACAAAC
CGAGAAGGGGGTCAGAGGAGCTCTAGGAAAGGCCCAGGAGAGGGCAGTTGGAGGCAGGTGTGAGCATGAGGAGCTKCCCCCTGCCAGGGCATGGCTCAGG
TGGCACAGGGACATCTGATGAACCCTGCCCGAGGTTCTCGGTGCCTCCCGTGCATGAGTGGCTCACTGAAGGCAGGTGTGGAAGCCAAATGCCTGCAAGC
CGTGTGTCAGGCCACAGCAGTGCAGTCATGCATCACGCACTCAGGTTTGTAACAGCAACACCAGGGCCCTGTCTAGATTCACCCTGTGGGTGAGCCCGTT
CTCCAGATGGGCGTATAAAGGGGCTTTCTCCTCTACACCGTTCCTGTCAATGTTCCGTACAGGCCCACATTCCCACCACTAAGCCAATGGAGTCAACCAG
ATTTCTAAAGCCATGGATATACGTGGTCACGGGGCCACATTTCTGCAGCTGGCTCAGTGGCAGGCTTGGGCCGTCTCTCAGTACCATCTAAGACTTCTGT
CTAGGTTCCTGTTTTTTTAGAMTCCTGAACTGCCATTCTGATTAGACACAATTTTAATGGAATTTTTGGATTTAATRATAGTTGATAATCACCTTATGTA
TTTGCACAATCTCTTTATAATTAAAAACTCGCTAAGCTTCACTTGCTACTATCTACTATATAGAATTAGAGACATTCCATTGGATTCTAAGCATCAGACA
CTCCTGGATCTCAAAATGACCTTTTCTAAATAAGCACAAGATTTATTTTTGTCCTAGCACTGTTGATAACACTCTGAAATATGTTATTGAACTGGAATTG
TTTCTTTATGCTTGCATTCCAAAACCAACTGAAACAGATTGTAGTTTCACTTTAAATTCTAGGCCTGTTCTATATTATRTGAAGGAATTCTCTGTAACGC
TGATACTATGTTGCTAATTTGTGTACTTACAGRCACTTTAGAAAATGTTTAGACTGCAACATGCACTATAACATTGAACTCAGTCACATGAAGTGGTTAA
CACTTGCACACTGACTGACAGATATGAAAGCTGTATACTTTGGACCCAGTAATATGCTCATTGGAGCAAGGGTTGGGCTGTGTGGATGGATAAACTGCTT
TCTTGGGTTTACATGGAAA

Protein Sequence    (SEQ ID NO:755):
MSAAASPASERGWKSEKLDEAQALARSCAARRPDFQPCDGLSICATHSHGKCFKLHWCCHLGWCHCKYMYQPMTPVEQLPSTEIPARPREPTNTIQISVS
LTEHFLKFASVFQPPLPPDSPRYCMISDLFIDNYQVKCINGKMCYVQKQPAPHSHRMSPEEVSAHDALISKESNTPKIDHCSSPSSSEDSGINAIGAHYV
ESCDEDTEEGAELSSEEDYSPESSWEPDECTLLSPSQSDLEVIETIETTV


SNP Information

Context             (SEQ ID NO:2526):
CGTGGTCACGGGGCCACATTTCTGCAGCTGGCTCAGTGGCAGGCTTGGGCCGTCTCTCAGTACCATCTAAGACTTCTGTCTAGGTTCCTGTTTTTTTAGA
M
TCCTGAACTGCCATTCTGATTAGACACAATTTTAATGGAATTTTTGGATTTAATGATAGTTGATAATCACCTTATGTATTTGCACAATCTCTTTATAATT
Celera SNP ID:            hCV2690164
SNP Position Transcript:  3622
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,8)      total(A,1|C,8) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Context             (SEQ ID NO:2527):
CCCCTGACTCACCGAGGTACTGTATGATTTCAGACCTTTTTATTGACAACTATCAGGTTAAATGTATTAATGGGAAGATGTGTTATGTGCAGAAGCAGCC
R
GCACCACATTCCCACAGAATGAGCCCTGAGGAGGTCTCTGCACACGATGCCTTAATTTCAAAAGAGAGCAATACACCAAAAATAGATCACTGCTCTTCTC
Celera SNP ID:            hCV25745002
SNP Position Transcript:  646
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:755, 150, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,30)   total(A,1|G,57)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:755, 150, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:2528):
TACAGTCCAGAGAGCAGCTGGGAACCGGATGAGTGCACCCTTCTCTCCCCCTCGCAGTCTGACCTGGAAGTGATTGAAACGATAGAAACGACTGTGTGAG
M
GTCCAGACAGGAAGCCACAGCCTCGGACCCACGCCGAGCTTTTGTACCTTTGTCTGGTGGATCCTTTTTTCCAATGCTGTTGATATTTTCTACCCACCCC
Celera SNP ID:            hCV25741915
SNP Position Transcript:  951
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None



Context             (SEQ ID NO:2529):
CCCCCTGACTCACCGAGGTACTGTATGATTTCAGACCTTTTTATTGACAACTATCAGGTTAAATGTATTAATGGGAAGATGTGTTATGTGCAGAAGCAGC
Y
GGCACCACATTCCCACAGAATGAGCCCTGAGGAGGTCTCTGCACACGATGCCTTAATTTCAAAAGAGAGCAATACACCAAAAATAGATCACTGCTCTTCT
Celera SNP ID:            hCV25745003
SNP Position Transcript:  645
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,40)   total(C,72|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:755, 150, (P,CCG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,30)   total(C,59|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:755, 150, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:2530):
CTCAGTACCATCTAAGACTTCTGTCTAGGTTCCTGTTTTTTTAGACTCCTGAACTGCCATTCTGATTAGACACAATTTTAATGGAATTTTTGGATTTAAT
R
ATAGTTGATAATCACCTTATGTATTTGCACAATCTCTTTATAATTAAAAACTCGCTAAGCTTCACTTGCTACTATCTACTATATAGAATTAGAGACATTC
Celera SNP ID:            hCV1568348
SNP Position Transcript:  3677
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Context             (SEQ ID NO:2531):
GGTGTCGGCTCCGCGCGGAGGGAGAGGAAATGAGTGCGGCGGCCTCGCCGGCGTCGGAGCGGGGTTGGAAGAGCGAGAAACTAGATGAGGCTCAGGCCCT
R
GCGCGGAGTTGCGCCGCCCGCAGACCCGACTTCCAGCCGTGCGACGGGCTGTCTATCTGTGCCACGCACAGCCATGGCAAGTGCTTCAAGCTGCACTGGT
Celera SNP ID:            hCV29021814
SNP Position Transcript:  268
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:755, 24, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:2532):
TGACTCACCGAGGTACTGTATGATTTCAGACCTTTTTATTGACAACTATCAGGTTAAATGTATTAATGGGAAGATGTGTTATGTGCAGAAGCAGCCGGCA
Y
CACATTCCCACAGAATGAGCCCTGAGGAGGTCTCTGCACACGATGCCTTAATTTCAAAAGAGAGCAATACACCAAAAATAGATCACTGCTCTTCTCCCTC
Celera SNP ID:            hCV25745014
SNP Position Transcript:  650
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,27|T,3)   total(C,57|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:755, 152, (P,CCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,37|T,3)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:755, 152, (P,CCA)   (S,TCA)   



Context             (SEQ ID NO:2533):
AACAGATTGTAGTTTCACTTTAAATTCTAGGCCTGTTCTATATTATGTGAAGGAATTCTCTGTAACGCTGATACTATGTTGCTAATTTGTGTACTTACAG
R
CACTTTAGAAAATGTTTAGACTGCAACATGCACTATAACATTGAACTCAGTCACATGAAGTGGTTAACACTTGCACACTGACTGACAGATATGAAAGCTG
Celera SNP ID:            hCV1568349
SNP Position Transcript:  4033
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Context             (SEQ ID NO:2534):
AATTTAAAGATTCAACAAGACAAACCGAGAAGGGGGTCAGAGGAGCTCTAGGAAAGGCCCAGGAGAGGGCAGTTGGAGGCAGGTGTGAGCATGAGGAGCT
K
CCCCCTGCCAGGGCATGGCTCAGGTGGCACAGGGACATCTGATGAACCCTGCCCGAGGTTCTCGGTGCCTCCCGTGCATGAGTGGCTCACTGAAGGCAGG
Celera SNP ID:            hCV7560897
SNP Position Transcript:  3176
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,7)      total(G,7|T,2) ;no_pop(T,-|G,-)   no_pop(G,-|T,-)   Caucasian(G,84)   no_pop(T,-|G,-)   total(G,84)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Context             (SEQ ID NO:2535):
ATATGTTATTGAACTGGAATTGTTTCTTTATGCTTGCATTCCAAAACCAACTGAAACAGATTGTAGTTTCACTTTAAATTCTAGGCCTGTTCTATATTAT
R
TGAAGGAATTCTCTGTAACGCTGATACTATGTTGCTAATTTGTGTACTTACAGGCACTTTAGAAAATGTTTAGACTGCAACATGCACTATAACATTGAAC
Celera SNP ID:            hCV7560898
SNP Position Transcript:  3979
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Context             (SEQ ID NO:2536):
TGAGGCATAGTTTCAAATCCTGGAAATTTTAAGTATGGCCTAATGAGAACATCAGAGTTGGAGACAGAACAGTACTTCCATCCTAACTATCCAGAAGCGC
R
CTCTCAGGCCATTGTGCTCTGAGATTCCCTTGTGCTCTGGCACCATTATGGTACATCTCTACGTCACATTAATTTTTTTTTTTTTGAGATGGAGTTTCCC
Celera SNP ID:            hCV9735843
SNP Position Transcript:  2456
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,12)      total(G,12|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:755, None   



Gene Number:                 31
Celera Gene:                 hCG1660791 - 79000076113689
Celera Transcript:           hCT2330981 - 79000076113698
Public Transcript Accession: NM_030949
Celera Protein:              hCP1875687 - 197000069408951
Public Protein Accession:    NP_112211
Gene Symbol:                 PPP1R14C
Protein Name:                protein phosphatase 1, regulatory (inhibitor) subunit 14C;CPI17-like;KEPI;NY-BR-81
Celera Genomic Axis:         GA_x54KRFTF0F9(20411559..20519646)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:59):
GAAAACCTCCTGGGGGAGCCTGCGGCGCGGTCCTTTCCTGTGTCCCCTTCGCTGCGGGTCCTGCCCGGGGCCGCGCCAGGTGGAGGCCCCGAGAGGCGGC
GCGTTTCCTGCGCTCCGGGATTGCGGGAGAAGCGTGAGTCCCTGTCTCCGAGACTAGAGGCCACGGACACCCGCGCAGGAGCATCCCCTGGCACCCCGCC
CCACGCCCGTCCTTCCGGAGTCTACACATCGGCGACCTCCCGTGTCTAGGCGCACACATTTCCCGCCCCGCGGAGACTCCCACGCCCCGGGCCCTCTCTG
CCGCAGGCGCCAGATCCCGCCTCTGGGGGCTGGACCGAGAGGGTCCTCGGCGGCTTCTTTAAGGCTGCGGTCCCCGCCCCGTCGTCCTCCCCGCCCTCCT
CCCTCTCGCCGCGGCTCCTCCCGCCCTCCCAGAGCAGCCGGGCGGCTGGGCGCGCGCGGCGCAGAGCAGGTGCCGGGGAGCCCTTCGCATGCGGCTGCCG
GGCCGGAGGTGGTAGCGGCGCCGGGCGCGCTCCGCCCGCCCCTCCTCCGGGCCGCACTGAGGCTCGGGCGCGCGGGGACATGTCGGTGGCGACGGGCAGC
AGCGAGRCGGCCGGCGGGGCCAGCGGCGGCGGCGCACGGGTTTTCTTCCAAAGCCCCCGGGGTGGCGCCGGTGGCAGCCCCGGCTCCAGCAGCGGCTCAG
GCTCCTCCCGGGAGGACTCGGCGCCCGTGGCCACGGCGGCCGCTGCAGGGCAGGTTCAGCAGCAACAGCAGCGGCGACACCAGCAGGGAAAAGTGACAGT
GAAATACGATCGTAAGGAGCTTCGGAAGCGGCTGGTGCTGGAGGAATGGATCGTGGAGCAGCTGGGTCAGCTCTACGGCTGCGAGGAAGAAGAAATGCCA
GAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGAAGCTCTTGTAGACTGCTACAAA
CCAACAGAGGAATTTATCAAAGAGCTGCTTTCTCGGATAAGAGGCATGAGGAAACTGAGCCCTCCGCAGAAGAAGAGTGTATGATTCTGGAACAGGGTGA
AACTCTCCCAGAGAYGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACKTTTTTKTTTTTTTTT
TTTTCTTTTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAATGTAATATTTTAATA
GCAAAGATATCATGACTCTAGCCACAGCCTAACCAAGGATTATCAAAGGAGGTGGACACTCAAGGAAGGGCCACGCCAGGCTGCGTTTCCTGCAAGGACT
CAGATGTTCAGTACCTTATGATACAGGGAAGATAGTTTTCTTACAAGTAGTTTGGTAATATTTTTTTTCTTAAGTTGTAYATTTGACTCAGCTGTCAAAT
TTCTCACACTTGTATATATCTACACACAACTAAGTTAAAATGTTGATGTGAGTTTTATTTCACATGGATGGAATAAACTTGTGGTTGTCCTTTAACTGGA
GGTCCCAGCACATGTGTTTTCAAGAGGCCACTAGGCATTCTTCACTGAGTGCTGCTGACTTCAACGTTCACTTTATGCACCAAAGTGAAAGAATTCAGTG
TATCCGTTATTTTAATGCACTACACCACAGAAATGTTAAGTTGGTCAAGGGCTTAATTTATGGAATTTCTATTATTTCATTGGTTGGGATGCTTTGCCAG
GTCATGTGCTTATTGTCTCATTTTGTAGTCTTTTAAAGTTGTATGAACCCTTAATTTGAAGAACTAACTTGATTTCTAGAGAAATATCCACACTATCTCA
GTGGTATTTTGCATTGGAAAAAGGAAGCACTGTGTAGCAGTGAATTGTCTGCTTTCCACCGAGTACTGTGTTTATTCTCTCTCCAGGAAAGCAGRTCAAA
AGAAAGTTAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAGYATCAGACCAGTGGGAGTAAACCGAGTGTTAAG
TGTCAAGGTGAGAAAGCCTCACATTCTCTCAAGACAGTTGCTCTAGGAGCTGAGTTGCTGGTTTGGAAGTGTGGAGATTGCATTTCTGGCTTCTCTCAAT
GGCTTGTGTTGAGGACTCTGGGTGCTCCTGGCCCTAATTGTGCACCCTGATCCCCGTGCTTGGAGCTAGGCCTGGTGGCGTGCTCTAGCCCTCTCAGTTA
CCAGCTCTTTGGAGAAGGATCAAAATTCAGATGGAATGTGGGATGGGTAATAGGTGAGAGTAGAAACCCTTCCCTCCAGGAGGCCCCCGCTGMCTCCCAC
AGAAACCCACCTACCATAAGATGTCTTCAGGTGGCCTTGTCCAAGGATGGGGGTCAGGCATTTTATATCAAGGGTGCTCTGAACATATTTTATTTTTTAA
AAAAACTATGTTTGTGAATTTTGCGTATACTGGCAAGCTTTTGAAAATGTATTTAATTTTGTATTGTTTACCAATGATTTATTTACAAGATATTTACTCA
AATAAATGGAGCTGCTTACAAGCCTGTTGACATGTGTGGCTTGCACAACACGTT

Protein Sequence    (SEQ ID NO:756):
RPRTPAQEHPLAPRPTPVLPESTHRRPPVSRRTHFPPRGDSHAPGPLCRRRQIPPLGAGPRGSSAASLRLRSPPRRPPRPPPSRRGSSRPPRAAGRLGAR
GAEQVPGSPSHAAAGPEVVAAPGALRPPLLRAALRLGRAGTCRWRRAAARRPAGPAAAAHGFSSKAPGVAPVAAPAPAAAQAPPGRTRRPWPRRPLQGRF
SSNSSGDTSREK


SNP Information

Context             (SEQ ID NO:2537):
AACAGGGTGAAACTCTCCCAGAGACGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACGTTTTT
K
TTTTTTTTTTTTTCTTTTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAATGTAAT
Celera SNP ID:            hCV27438540
SNP Position Transcript:  1191
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,3)   total(G,3|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Context             (SEQ ID NO:2538):
TTCTGGAACAGGGTGAAACTCTCCCAGAGACGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAAC
K
TTTTTGTTTTTTTTTTTTTCTTTTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAA
Celera SNP ID:            hCV27438541
SNP Position Transcript:  1185
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,3)   total(G,3|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Context             (SEQ ID NO:2539):
AGGTGGTAGCGGCGCCGGGCGCGCTCCGCCCGCCCCTCCTCCGGGCCGCACTGAGGCTCGGGCGCGCGGGGACATGTCGGTGGCGACGGGCAGCAGCGAG
R
CGGCCGGCGGGGCCAGCGGCGGCGGCGCACGGGTTTTCTTCCAAAGCCCCCGGGGTGGCGCCGGTGGCAGCCCCGGCTCCAGCAGCGGCTCAGGCTCCTC
Celera SNP ID:            hCV16187255
SNP Position Transcript:  607
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:756, 150, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:2540):
GCTGCGTTTCCTGCAAGGACTCAGATGTTCAGTACCTTATGATACAGGGAAGATAGTTTTCTTACAAGTAGTTTGGTAATATTTTTTTTCTTAAGTTGTA
Y
ATTTGACTCAGCTGTCAAATTTCTCACACTTGTATATATCTACACACAACTAAGTTAAAATGTTGATGTGAGTTTTATTTCACATGGATGGAATAAACTT
Celera SNP ID:            hCV8913184
SNP Position Transcript:  1480
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Context             (SEQ ID NO:2541):
TATCAAAGAGCTGCTTTCTCGGATAAGAGGCATGAGGAAACTGAGCCCTCCGCAGAAGAAGAGTGTATGATTCTGGAACAGGGTGAAACTCTCCCAGAGA
Y
GAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACGTTTTTGTTTTTTTTTTTTTCTTTTTTGGTG
Celera SNP ID:            hCV25643119
SNP Position Transcript:  1115
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None



Context             (SEQ ID NO:2542):
CTCAGTTACCAGCTCTTTGGAGAAGGATCAAAATTCAGATGGAATGTGGGATGGGTAATAGGTGAGAGTAGAAACCCTTCCCTCCAGGAGGCCCCCGCTG
M
CTCCCACAGAAACCCACCTACCATAAGATGTCTTCAGGTGGCCTTGTCCAAGGATGGGGGTCAGGCATTTTATATCAAGGGTGCTCTGAACATATTTTAT
Celera SNP ID:            hCV1266737
SNP Position Transcript:  2393
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|C,2)      total(A,2|C,2) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(C,189|A,1286)   total(A,1286|C,189)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Context             (SEQ ID NO:2543):
GTGTTTATTCTCTCTCCAGGAAAGCAGATCAAAAGAAAGTTAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAG
Y
ATCAGACCAGTGGGAGTAAACCGAGTGTTAAGTGTCAAGGTGAGAAAGCCTCACATTCTCTCAAGACAGTTGCTCTAGGAGCTGAGTTGCTGGTTTGGAA
Celera SNP ID:            hCV1266738
SNP Position Transcript:  2068
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Context             (SEQ ID NO:2544):
ATCTCAGTGGTATTTTGCATTGGAAAAAGGAAGCACTGTGTAGCAGTGAATTGTCTGCTTTCCACCGAGTACTGTGTTTATTCTCTCTCCAGGAAAGCAG
R
TCAAAAGAAAGTTAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAGTATCAGACCAGTGGGAGTAAACCGAGTG
Celera SNP ID:            hCV1266739
SNP Position Transcript:  1995
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2) ;JBIC-allele(G,124|A,1361)   total(G,124|A,1361)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:756, None   



Gene Number:                 31
Celera Gene:                 hCG1660791 - 79000076113689
Celera Transcript:           hCT1660918 - 79000076113690
Public Transcript Accession: NM_030949
Celera Protein:              hCP1641172 - 197000069408950
Public Protein Accession:    NP_112211
Gene Symbol:                 PPP1R14C
Protein Name:                protein phosphatase 1, regulatory (inhibitor) subunit 14C;CPI17-like;KEPI;NY-BR-81
Celera Genomic Axis:         GA_x54KRFTF0F9(20411559..20519646)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:60):
GAAAACCTCCTGGGGGAGCCTGCGGCGCGGTCCTTTCCTGTGTCCCCTTCGCTGCGGGTCCTGCCCGGGGCCGCGCCAGGTGGAGGCCCCGAGAGGCGGC
GCGTTTCCTGCGCTCCGGGATTGCGGGAGAAGCGTGAGTCCCTGTCTCCGAGACTAGAGGCCACGGACACCCGCGCAGGAGCATCCCCTGGCACCCCGCC
CCACGCCCGTCCTTCCGGAGTCTACACATCGGCGACCTCCCGTGTCTAGGCGCACACATTTCCCGCCCCGCGGAGACTCCCACGCCCCGGGCCCTCTCTG
CCGCAGGCGCCAGATCCCGCCTCTGGGGGCTGGACCGAGAGGGTCCTCGGCGGCTTCTTTAAGGCTGCGGTCCCCGCCCCGTCGTCCTCCCCGCCCTCCT
CCCTCTCGCCGCGGCTCCTCCCGCCCTCCCAGAGCAGCCGGGCGGCTGGGCGCGCGCGGCGCAGAGCAGGTGCCGGGGAGCCCTTCGCATGCGGCTGCCG
GGCCGGAGGTGGTAGCGGCGCCGGGCGCGCTCCGCCCGCCCCTCCTCCGGGCCGCACTGAGGCTCGGGCGCGCGGGGACATGTCGGTGGCGACGGGCAGC
AGCGAGRCGGCCGGCGGGGCCAGCGGCGGCGGCGCACGGGTTTTCTTCCAAAGCCCCCGGGGTGGCGCCGGTGGCAGCCCCGGCTCCAGCAGCGGCTCAG
GCTCCTCCCGGGAGGACTCGGCGCCCGTGGCCACGGCGGCCGCTGCAGGGCAGGTTCAGCAGCAACAGCAGCGGCGACACCAGCAGGGAAAAGTGACAGT
GAAATACGATCGTAAGGAGCTTCGGAAGCGGCTGGTGCTGGAGGAATGGATCGTGGAGCAGCTGGGTCAGCTCTACGGCTGCGAGGAAGAAGAAATGCCA
GAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGAAGCTCTTGTAGACTGCTACAAACCAACAG
AGGAATTTATCAAAGAGCTGCTTTCTCGGATAAGAGGCATGAGGAAACTGAGCCCTCCGCAGAAGAAGAGTGTATGATTCTGGAACAGGGTGAAACTCTC
CCAGAGAYGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACKTTTTTKTTTTTTTTTTTTTCTT
TTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAATGTAATATTTTAATAGCAAAGA
TATCATGACTCTAGCCACAGCCTAACCAAGGATTATCAAAGGAGGTGGACACTCAAGGAAGGGCCACGCCAGGCTGCGTTTCCTGCAAGGACTCAGATGT
TCAGTACCTTATGATACAGGGAAGATAGTTTTCTTACAAGTAGTTTGGTAATATTTTTTTTCTTAAGTTGTAYATTTGACTCAGCTGTCAAATTTCTCAC
ACTTGTATATATCTACACACAACTAAGTTAAAATGTTGATGTGAGTTTTATTTCACATGGATGGAATAAACTTGTGGTTGTCCTTTAACTGGAGGTCCCA
GCACATGTGTTTTCAAGAGGCCACTAGGCATTCTTCACTGAGTGCTGCTGACTTCAACGTTCACTTTATGCACCAAAGTGAAAGAATTCAGTGTATCCGT
TATTTTAATGCACTACACCACAGAAATGTTAAGTTGGTCAAGGGCTTAATTTATGGAATTTCTATTATTTCATTGGTTGGGATGCTTTGCCAGGTCATGT
GCTTATTGTCTCATTTTGTAGTCTTTTAAAGTTGTATGAACCCTTAATTTGAAGAACTAACTTGATTTCTAGAGAAATATCCACACTATCTCAGTGGTAT
TTTGCATTGGAAAAAGGAAGCACTGTGTAGCAGTGAATTGTCTGCTTTCCACCGAGTACTGTGTTTATTCTCTCTCCAGGAAAGCAGRTCAAAAGAAAGT
TAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAGYATCAGACCAGTGGGAGTAAACCGAGTGTTAAGTGTCAAG
GTGAGAAAGCCTCACATTCTCTCAAGACAGTTGCTCTAGGAGCTGAGTTGCTGGTTTGGAAGTGTGGAGATTGCATTTCTGGCTTCTCTCAATGGCTTGT
GTTGAGGACTCTGGGTGCTCCTGGCCCTAATTGTGCACCCTGATCCCCGTGCTTGGAGCTAGGCCTGGTGGCGTGCTCTAGCCCTCTCAGTTACCAGCTC
TTTGGAGAAGGATCAAAATTCAGATGGAATGTGGGATGGGTAATAGGTGAGAGTAGAAACCCTTCCCTCCAGGAGGCCCCCGCTGMCTCCCACAGAAACC
CACCTACCATAAGATGTCTTCAGGTGGCCTTGTCCAAGGATGGGGGTCAGGCATTTTATATCAAGGGTGCTCTGAACATATTTTATTTTTTAAAAAAACT
ATGTTTGTGAATTTTGCGTATACTGGCAAGCTTTTGAAAATGTATTTAATTTTGTATTGTTTACCAATGATTTATTTACAAGATATTTACTCAAATAAAT
GGAGCTGCTTACAAGCCTGTTGACATGTGTGGCTTGCACAACACGTT

Protein Sequence    (SEQ ID NO:757):
MSVATGSSETAGGASGGGARVFFQSPRGGAGGSPGSSSGSGSSREDSAPVATAAAAGQVQQQQQRRHQQGKVTVKYDRKELRKRLVLEEWIVEQLGQLYG
CEEEEMPEVEIDIDDLLDADSDEERASKLQEALVDCYKPTEEFIKELLSRIRGMRKLSPPQKKSV


SNP Information

Context             (SEQ ID NO:2545):
AACAGGGTGAAACTCTCCCAGAGACGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACGTTTTT
K
TTTTTTTTTTTTTCTTTTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAATGTAAT
Celera SNP ID:            hCV27438540
SNP Position Transcript:  1184
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,3)   total(G,3|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Context             (SEQ ID NO:2546):
TTCTGGAACAGGGTGAAACTCTCCCAGAGACGAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAAC
K
TTTTTGTTTTTTTTTTTTTCTTTTTTGGTGTGAAGGTGGGGGGGTCTATTAGACATTTATTCAAGAGCGTTCTTTTTTTGGTTTTAAAGGTTTTTGTTAA
Celera SNP ID:            hCV27438541
SNP Position Transcript:  1178
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,3)   total(G,3|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Context             (SEQ ID NO:2547):
AGGTGGTAGCGGCGCCGGGCGCGCTCCGCCCGCCCCTCCTCCGGGCCGCACTGAGGCTCGGGCGCGCGGGGACATGTCGGTGGCGACGGGCAGCAGCGAG
R
CGGCCGGCGGGGCCAGCGGCGGCGGCGCACGGGTTTTCTTCCAAAGCCCCCGGGGTGGCGCCGGTGGCAGCCCCGGCTCCAGCAGCGGCTCAGGCTCCTC
Celera SNP ID:            hCV16187255
SNP Position Transcript:  607
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:757, 10, (T,ACG)   (A,GCG)      



Context             (SEQ ID NO:2548):
GCTGCGTTTCCTGCAAGGACTCAGATGTTCAGTACCTTATGATACAGGGAAGATAGTTTTCTTACAAGTAGTTTGGTAATATTTTTTTTCTTAAGTTGTA
Y
ATTTGACTCAGCTGTCAAATTTCTCACACTTGTATATATCTACACACAACTAAGTTAAAATGTTGATGTGAGTTTTATTTCACATGGATGGAATAAACTT
Celera SNP ID:            hCV8913184
SNP Position Transcript:  1473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Context             (SEQ ID NO:2549):
TATCAAAGAGCTGCTTTCTCGGATAAGAGGCATGAGGAAACTGAGCCCTCCGCAGAAGAAGAGTGTATGATTCTGGAACAGGGTGAAACTCTCCCAGAGA
Y
GAAGAAAGAGTCCTGGGATTTGTACTTCATGAAGACTTTTGTGAAAGAATAGGTGTCCTTATGAACAACGTTTTTGTTTTTTTTTTTTTCTTTTTTGGTG
Celera SNP ID:            hCV25643119
SNP Position Transcript:  1108
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None



Context             (SEQ ID NO:2550):
CTCAGTTACCAGCTCTTTGGAGAAGGATCAAAATTCAGATGGAATGTGGGATGGGTAATAGGTGAGAGTAGAAACCCTTCCCTCCAGGAGGCCCCCGCTG
M
CTCCCACAGAAACCCACCTACCATAAGATGTCTTCAGGTGGCCTTGTCCAAGGATGGGGGTCAGGCATTTTATATCAAGGGTGCTCTGAACATATTTTAT
Celera SNP ID:            hCV1266737
SNP Position Transcript:  2386
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|C,2)      total(A,2|C,2) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(C,189|A,1286)   total(A,1286|C,189)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Context             (SEQ ID NO:2551):
GTGTTTATTCTCTCTCCAGGAAAGCAGATCAAAAGAAAGTTAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAG
Y
ATCAGACCAGTGGGAGTAAACCGAGTGTTAAGTGTCAAGGTGAGAAAGCCTCACATTCTCTCAAGACAGTTGCTCTAGGAGCTGAGTTGCTGGTTTGGAA
Celera SNP ID:            hCV1266738
SNP Position Transcript:  2061
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Context             (SEQ ID NO:2552):
ATCTCAGTGGTATTTTGCATTGGAAAAAGGAAGCACTGTGTAGCAGTGAATTGTCTGCTTTCCACCGAGTACTGTGTTTATTCTCTCTCCAGGAAAGCAG
R
TCAAAAGAAAGTTAGCAGATCGAGTGTCTTCTTCCTTAGAAATAGGTTCTGGTAGCTTCTGTGCCTGGGTAGTATCAGACCAGTGGGAGTAAACCGAGTG
Celera SNP ID:            hCV1266739
SNP Position Transcript:  1988
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2) ;JBIC-allele(G,124|A,1361)   total(G,124|A,1361)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:757, None   



Gene Number:                 32
Celera Gene:                 hCG1685795 - 149000145736721
Celera Transcript:           hCT2265379 - 149000145736722
Public Transcript Accession: NM_001039
Celera Protein:              hCP1850997 - 197000069354131
Public Protein Accession:    NP_001030
Gene Symbol:                 SCNN1G
Protein Name:                sodium channel, nonvoltage-gated 1, gamma;ENaCg;ENaCgamma;PHA1;SCNEG
Celera Genomic Axis:         GA_x5YUV32VTB5(5107075..5137760)
Chromosome:                  Chr16
OMIM number:                 600761
OMIM Information:            SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT;SCNN1G


Transcript Sequence (SEQ ID NO:61):
CACGCCCGTCCTCRGAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGG
CCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCCGCATCGTGGTGTCCCGCKGCCGTCTGCGC
CGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTCAGTTTCCATCA
AAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGCAACATCAACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACA
GGAGACCAGAGAGGCCCTGAAGTCCCTGTAYGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCT
AGATTCTCCCACCGGATYCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCRGYGGTAGCA
TCATTCACAAGGCTTCAAATGTCATGCACATCRAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTT
CAGCTCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACATCATGGCACAGGTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCT
GCTGAGGAGCTGCTGGTGACCTGCTTCTTTGATGGAGTGTCCTGTGATGCCAGGAATTTCACGCTTTTCCACCACCCGATGCATGGGAATTGCTATACTT
TCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGGGGCAGCGAATATGGGCTGCAAGTCATTTTGTACATAAACGAAGAGGAATACAACCC
ATTCCTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTATCCCTTCGTCGAAGATGTGGGAACAGAGATTGAGACAGCAATGGTC
ACCTCTATAGGAATGCACCTGACAGAGTCCTTCAAGCTGAGTGAGCCCTACAGTCAGTGCACGGAGGACGGGAGTGACGTGCCAATCAGGAACATCTACA
ACGCTGCCTACTCGCTCCAGATCTGCCTTCATTCATGCTTCCAGACAAAGATGGTGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGC
AGCCAACTACTGCAACTACCAGCAGCACCCCAACTGGATGTATTGTTACTACCAACTGCATCGAGCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTG
TGCAAGGAAGCCTGCAGCTTTAAAGAGTGGACACTAACCACAAGCCTGGCACAATGGCCATCTGTGGTTTCGGAGAAGTGGTTGCTGCCTGTTCTCACTT
GGGACCAAGGCCGGCAAGTAAACAAAAAGCTCAACAAGACAGACTTGGCCAAACTCTTGATATTCTACAAAGACCTGAACCAGAGATCCATCATGGAGAG
CCCAGCCAACAGTATTGAGATGCTTCTGTCCAACTTCGGTGGCCAGCTGGGCCTGTGGATGAGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTC
TTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTRGGCCTRGAAACAGGCTCCCCCATGTCCAGAAGCTCCCC
GTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAACTCTGCTTTGCACCTGCCTCCAGCCCTAGGAACCCAAGT
GCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCTSTGAGGCAGG
GTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGKTCTAAGGACATGGATCGGGTGCCCCCAGACRTGTGCACAGGGGACCCTCTGCCCCACTCTGG
GCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCKGGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACA
ACTGTCCAGGCTGAGATAAATCCCGGGACYTGAACTATTAGCACGTCACTAGAGACTGGGARCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTG
AGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCCCAAAGCCGAGGGTTTCACCCACACTGCCAGCCTGGGTTGGGGCCCA
AGGATGTGACCTTGAGTGTCAAGGCTGGACAGCTACTGCCAGATGCCAAAGATAGGAGAAAGTGCCAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTG
TTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAGRGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGW
GGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGATTTRGTTATTCAATTTTGTGGATGAATAAATTGAG
GCACAGAAAGATTAAGTTACCGGCCCAAGGTGACACAGTGAGGAGGTGGCAGAGCTAGGATTTGAACCCAGACAATCTGACTCCATGATTTTGCATCCAA
TTCGTGTCTGTGCCTTTTAAAGGGTGAGGTCTGTGTCACTTTGGGTGGGGAGGGGGAGCATGGTGGGCCATGCTCTGGGCAGCTGTTCCAAGACAGAGCT
GACCCTTCCATTACCAATGGCCTGTCCCTCACCAACAAGCCAACTGCCACAGATGACCCACTTCATACCACATTCACATCTTTCCACCTGAAATGGCTAA
CAGGTATTAAGATAGGTTAGCATAGGGGACTGCAAATGGTGTTCCGCAAAGCAAATCCTGTTTTTGACCATGAACTAAGAATTTTATTTTATTTTATTTT
TTATTTTTTGTAGAAATAGGATCTCACTATGTTGCCCAGGCTGTTCTTGAACTCCTGGCCTCAAATGATCTTCCCACTTCAGCCTCCCAAAGTGCAGGGA
TTACAGGCACAAGCCACCGTGCCCAGCCAAGAATTTTTATTTTTGCTTTTAAATAGCAAAAGAAGAAGATTCTGTGACTCATGAAAATGATATGAGATTC
GAATTCCAGTGTCTATAAATAAAGTTTTATTGGTACACAGCCAC

Protein Sequence    (SEQ ID NO:758):
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTIC
NINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQ
VVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQ
TKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTD
LAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL


SNP Information

Context             (SEQ ID NO:2553):
GCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGAC
Y
TGAACTATTAGCACGTCACTAGAGACTGGGAGCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGA
Celera SNP ID:            hCV11895904
SNP Position Transcript:  2230
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(T,37|C,111)      total(C,111|T,37) ;HYP3(T,37|C,111)   total(C,111|T,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2554):
GCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCCGCATCGTGGTGTCCCGC
K
GCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTC
Celera SNP ID:            hCV11894746
SNP Position Transcript:  189
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(T,6|G,61)      total(G,61|T,6) ;HYP2(T,7|G,61)   total(G,61|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 49, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:2555):
AGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGG
Y
GGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCT
Celera SNP ID:            hCV380785
SNP Position Transcript:  593
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38|T,2)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 183, (G,GGC)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;40 Africans; 32 white Americans; 2 CEPH individuals(T,7|C,140)      total(C,140|T,7);HYP3(T,7|C,141)   total(C,141|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 183, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:2556):
GCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGAGACTGGGA
R
CCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCCCAAAGCCG
Celera SNP ID:            hCV11895905
SNP Position Transcript:  2262
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,37|G,111)      total(G,111|A,37) ;HYP3(A,37|G,111)   total(G,111|A,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2557):
TGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGAT
Y
CCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAA
Celera SNP ID:            hCV11894747
SNP Position Transcript:  518
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 158, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(C,22|T,125)      total(C,22|T,125) ;HYP3(C,22|T,126)   total(C,22|T,126)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 158, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:2558):
CAGTCACCATCTGCAACATCAACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTA
Y
GGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCT
Celera SNP ID:            hCV380786
SNP Position Transcript:  431
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 129, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,6)      total(C,6|T,3) ;40 Africans; 32 white Americans; 2 CEPH individuals(C,37|T,111)      total(C,37|T,111);no_pop(C,-|T,-)   HYP3(C,37|T,111)   total(C,37|T,111) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 129, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2559):
CAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTGTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAG
R
GCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGAT
Celera SNP ID:            hCV11895906
SNP Position Transcript:  2566
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|A,111)      total(G,37|A,111) ;HYP3(G,37|A,111)   total(G,37|A,111)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2560):
AAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTC
R
GCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCAC
Celera SNP ID:            hCV11894748
SNP Position Transcript:  591
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 183, (S,AGC)   (G,GGC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 183, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:2561):
GTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAGGGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCG
W
GGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGATTTAGTTATTCAATTTTGTGGATGAATAAATTGAG
Celera SNP ID:            hCV11895907
SNP Position Transcript:  2600
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,44|T,103)      total(A,44|T,103) ;HYP3(A,44|T,104)   total(A,44|T,104)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2562):
CCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGATTT
R
GTTATTCAATTTTGTGGATGAATAAATTGAGGCACAGAAAGATTAAGTTACCGGCCCAAGGTGACACAGTGAGGAGGTGGCAGAGCTAGGATTTGAACCC
Celera SNP ID:            hCV11895909
SNP Position Transcript:  2669
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|A,111)      total(G,37|A,111) ;HYP3(G,37|A,111)   total(G,37|A,111)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2563):
TCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCT
R
GAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAACTCTGCT
Celera SNP ID:            hCV27860514
SNP Position Transcript:  1768
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 575, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2564):
GAACCCAAGTGCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCT
S
TGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCC
Celera SNP ID:            hCV11895900
SNP Position Transcript:  1991
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,12)   caucasian(C,27|G,7)   total(C,49|G,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 649, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,12)   caucasian(C,28|G,8)   total(C,52|G,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 649, (L,CTC)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|C,111)      total(G,37|C,111) ;HYP3(G,37|C,111)   total(G,37|C,111)no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:758, 649, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:2565):
TTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATG
K
TCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAAC
Celera SNP ID:            hCV11895901
SNP Position Transcript:  2038
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(T,4|G,76)      total(G,76|T,4) ;HYP1(T,4|G,76)   total(G,76|T,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2566):
CACGCCCGTCCTC
R
GAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCTCAGGCGCCGA
Celera SNP ID:            hCV380792
SNP Position Transcript:  14
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,33|G,7)   total(A,64|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:758, None

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,31|G,5)   total(A,62|G,6)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:758, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;40 Africans; 32 white Americans; 2 CEPH individuals(G,66|A,81)      total(G,66|A,81);HYP3(G,67|A,81)   total(G,67|A,81)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2567):
AGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGT
R
GGCCTGGAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAAC
Celera SNP ID:            hCV27528860
SNP Position Transcript:  1762
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 573, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2568):
ATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGAC
R
TGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGG
Celera SNP ID:            hCV11895902
SNP Position Transcript:  2069
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2569):
TCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCC
K
GGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGA
Celera SNP ID:            hCV11895903
SNP Position Transcript:  2153
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,29|T,118)      total(G,29|T,118) ;HYP3(G,30|T,118)   total(G,30|T,118)no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:758, None   



Context             (SEQ ID NO:2570):
TGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATC
R
AGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTA
Celera SNP ID:            hCV11894753
SNP Position Transcript:  633
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 197, (K,AAG)   (E,GAG)   

SNP Source:               HGBASE
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(A,3|G,64)   total(G,64|A,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:758, 197, (K,AAG)   (E,GAG)      



Gene Number:                 32
Celera Gene:                 hCG1685795 - 149000145736721
Celera Transcript:           hCT2265378 - 149000145736739
Public Transcript Accession: NM_001039
Celera Protein:              hCP1850998 - 197000069354132
Public Protein Accession:    NP_001030
Gene Symbol:                 SCNN1G
Protein Name:                sodium channel, nonvoltage-gated 1, gamma;ENaCg;ENaCgamma;PHA1;SCNEG
Celera Genomic Axis:         GA_x5YUV32VTB5(5107075..5141218)
Chromosome:                  Chr16
OMIM number:                 600761
OMIM Information:            SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT;SCNN1G


Transcript Sequence (SEQ ID NO:62):
AGGAGCAGCGCACCCGCACGAGCCTTGGACCCTTTGGAACCGAAAGCACGCCCGTCCTCRGAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCG
GAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAA
CACCCATGGCTGTCGCCGCATCGTGGTGTCCCGCKGCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAG
TGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTCAGTTTCCATCAAAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGCAACATCAACC
CCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTAYGGCTTTCCAGAGTCCCGGAAGCG
CCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATYCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAG
GCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCRGYGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCRAGTCCAAGCAAGTGGTGGGAT
TCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACAT
CATGGCACAGGTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCTGCTGAGGAGCTGCTGGTGACCTGCTTCTTTGATGGAGTGTCCTGTGATGCCAGG
AATTTCACGCTTTTCCACCACCCGATGCATGGGAATTGCTATACTTTCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGGGGCAGCGAAT
ATGGGCTGCAAGTCATTTTGTACATAAACGAAGAGGAATACAACCCATTCCTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTA
TCCCTTCGTCGAAGATGTGGGAACAGAGATTGAGACAGCAATGGTCACCTCTATAGGAATGCACCTGACAGAGTCCTTCAAGCTGAGTGAGCCCTACAGT
CAGTGCACGGAGGACGGGAGTGACGTGCCAATCAGGAACATCTACAACGCTGCCTACTCGCTCCAGATCTGCCTTCATTCATGCTTCCAGACAAAGATGG
TGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGCAGCCAACTACTGCAACTACCAGCAGCACCCCAACTGGATGTATTGTTACTACCA
ACTGCATCGAGCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTGTGCAAGGAAGCCTGCAGCTTTAAAGAGTGGACACTAACCACAAGCCTGGCACAA
TGGCCATCTGTGGTTTCGGAGAAGTGGTTGCTGCCTGTTCTCACTTGGGACCAAGGCCGGCAAGTAAACAAAAAGCTCAACAAGACAGACTTGGCCAAAC
TCTTGATATTCTACAAAGACCTGAACCAGAGATCCATCATGGAGAGCCCAGCCAACAGTATTGAGATGCTTCTGTCCAACTTCGGTGGCCAGCTGGGCCT
GTGGATGAGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAG
GAGTGGTRGGCCTRGAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCA
CTTTCAACTCTGCTTTGCACCTGCCTCCAGCCCTAGGAACCCAAGTGCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTC
CAACCAGCTCACAGATACCCAGATGCTGGATGAGCTSTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGKTCTAAGGACATGGATC
GGGTGCCCCCAGACRTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCKG
GGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACYTGAACTATTAGCACGTCACTAGAG
ACTGGGARCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCC
CAAAGCCGAGGGTTTCACCCACACTGCCAGCCTGGGTTGGGGCCCAAGGATGTGACCTTGAGTGTCAAGGCTGGACAGCTACTGCCAGATGCCAAAGATA
GGAGAAAGTGCCAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTGTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAG
AACTGGCCCAGRGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGWGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCC
CAGGAGATGGATTTRGTTATTCAATTTTGTGGATGAATAAATTGAGGCACAGAAAGATTAAGTTACCGGCCCAAGGTGACACAGTGAGGAGGTGGCAGAG
CTAGGATTTGAACCCAGACAATCTGACTCCATGATTTTGCATCCAATTCGTGTCTGTGCCTTTTAAAGGGTGAGGTCTGTGTCACTTTGGGTGGGGAGGG
GGAGCATGGTGGGCCATGCTCTGGGCAGCTGTTCCAAGACAGAGCTGACCCTTCCATTACCAATGGCCTGTCCCTCACCAACAAGCCAACTGCCACAGAT
GACCCACTTCATACCACATTCACATCTTTCCACCTGAAATGGCTAACAGGTATTAAGATAGGTTAGCATAGGGGACTGCAAATGGTGTTCCGCAAAGCAA
ATCCTGTTTTTGACCATGAACTAAGAATTTTATTTTATTTTATTTTTTATTTTTTGTAGAAATAGGATCTCACTATGTTGCCCAGGCTGTTCTTGAACTC
CTGGCCTCAAATGATCTTCCCACTTCAGCCTCCCAAAGTGCAGGGATTACAGGCACAAGCCACCGTGCCCAGCCAAGAATTTTTATTTTTGCTTTTAAAT
AGCAAAAGAAGAAGATTCTGTGACTCATGAAAATGATATGAGATTCGAATTCCAGTGTCTATAAATAAAGTTTTATTGGTACACAGCCAC

Protein Sequence    (SEQ ID NO:759):
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTIC
NINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQ
VVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQ
TKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTD
LAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL


SNP Information

Context             (SEQ ID NO:2571):
GCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGAC
Y
TGAACTATTAGCACGTCACTAGAGACTGGGAGCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGA
Celera SNP ID:            hCV11895904
SNP Position Transcript:  2276
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(T,37|C,111)      total(C,111|T,37) ;HYP3(T,37|C,111)   total(C,111|T,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2572):
GCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCCGCATCGTGGTGTCCCGC
K
GCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTC
Celera SNP ID:            hCV11894746
SNP Position Transcript:  235
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(T,6|G,61)      total(G,61|T,6) ;HYP2(T,7|G,61)   total(G,61|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 49, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:2573):
AGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGG
Y
GGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCT
Celera SNP ID:            hCV380785
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38|T,2)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 183, (G,GGC)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;40 Africans; 32 white Americans; 2 CEPH individuals(T,7|C,140)      total(C,140|T,7);HYP3(T,7|C,141)   total(C,141|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 183, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:2574):
GCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGAGACTGGGA
R
CCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCCCAAAGCCG
Celera SNP ID:            hCV11895905
SNP Position Transcript:  2308
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,37|G,111)      total(G,111|A,37) ;HYP3(A,37|G,111)   total(G,111|A,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2575):
TGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGAT
Y
CCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAA
Celera SNP ID:            hCV11894747
SNP Position Transcript:  564
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 158, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(C,22|T,125)      total(C,22|T,125) ;HYP3(C,22|T,126)   total(C,22|T,126)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 158, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:2576):
CAGTCACCATCTGCAACATCAACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTA
Y
GGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCT
Celera SNP ID:            hCV380786
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 129, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,6)      total(C,6|T,3) ;40 Africans; 32 white Americans; 2 CEPH individuals(C,37|T,111)      total(C,37|T,111);no_pop(C,-|T,-)   HYP3(C,37|T,111)   total(C,37|T,111) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 129, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2577):
CAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTGTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAG
R
GCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGAT
Celera SNP ID:            hCV11895906
SNP Position Transcript:  2612
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|A,111)      total(G,37|A,111) ;HYP3(G,37|A,111)   total(G,37|A,111)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2578):
AAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTC
R
GCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCAC
Celera SNP ID:            hCV11894748
SNP Position Transcript:  637
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 183, (S,AGC)   (G,GGC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 183, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:2579):
GTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAGGGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCG
W
GGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGATTTAGTTATTCAATTTTGTGGATGAATAAATTGAG
Celera SNP ID:            hCV11895907
SNP Position Transcript:  2646
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,44|T,103)      total(A,44|T,103) ;HYP3(A,44|T,104)   total(A,44|T,104)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2580):
CCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGGCCCAGGAGATGGATTT
R
GTTATTCAATTTTGTGGATGAATAAATTGAGGCACAGAAAGATTAAGTTACCGGCCCAAGGTGACACAGTGAGGAGGTGGCAGAGCTAGGATTTGAACCC
Celera SNP ID:            hCV11895909
SNP Position Transcript:  2715
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|A,111)      total(G,37|A,111) ;HYP3(G,37|A,111)   total(G,37|A,111)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2581):
TCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCT
R
GAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAACTCTGCT
Celera SNP ID:            hCV27860514
SNP Position Transcript:  1814
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 575, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2582):
GAACCCAAGTGCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCT
S
TGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCC
Celera SNP ID:            hCV11895900
SNP Position Transcript:  2037
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,12)   caucasian(C,27|G,7)   total(C,49|G,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 649, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,12)   caucasian(C,28|G,8)   total(C,52|G,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 649, (L,CTC)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|C,111)      total(G,37|C,111) ;HYP3(G,37|C,111)   total(G,37|C,111)no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:759, 649, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:2583):
TTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATG
K
TCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAAC
Celera SNP ID:            hCV11895901
SNP Position Transcript:  2084
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(T,4|G,76)      total(G,76|T,4) ;HYP1(T,4|G,76)   total(G,76|T,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2584):
AGGAGCAGCGCACCCGCACGAGCCTTGGACCCTTTGGAACCGAAAGCACGCCCGTCCTC
R
GAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCTCAGGCGCCGA
Celera SNP ID:            hCV380792
SNP Position Transcript:  60
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,33|G,7)   total(A,64|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:759, None

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,31|G,5)   total(A,62|G,6)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:759, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;40 Africans; 32 white Americans; 2 CEPH individuals(G,66|A,81)      total(G,66|A,81);HYP3(G,67|A,81)   total(G,67|A,81)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2585):
AGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGT
R
GGCCTGGAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAAC
Celera SNP ID:            hCV27528860
SNP Position Transcript:  1808
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 573, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2586):
ATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGAC
R
TGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGG
Celera SNP ID:            hCV11895902
SNP Position Transcript:  2115
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2587):
TCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCC
K
GGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGA
Celera SNP ID:            hCV11895903
SNP Position Transcript:  2199
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,29|T,118)      total(G,29|T,118) ;HYP3(G,30|T,118)   total(G,30|T,118)no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:759, None   



Context             (SEQ ID NO:2588):
TGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATC
R
AGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTA
Celera SNP ID:            hCV11894753
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 197, (K,AAG)   (E,GAG)   

SNP Source:               HGBASE
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(A,3|G,64)   total(G,64|A,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:759, 197, (K,AAG)   (E,GAG)      



Gene Number:                 32
Celera Gene:                 hCG1685795 - 149000145736721
Celera Transcript:           hCT1686430 - 149000145736757
Public Transcript Accession: NM_001039
Celera Protein:              hCP1690236 - 197000069354133
Public Protein Accession:    NP_001030
Gene Symbol:                 SCNN1G
Protein Name:                sodium channel, nonvoltage-gated 1, gamma;ENaCg;ENaCgamma;PHA1;SCNEG
Celera Genomic Axis:         GA_x5YUV32VTB5(5107077..5141218)
Chromosome:                  Chr16
OMIM number:                 600761
OMIM Information:            SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT;SCNN1G


Transcript Sequence (SEQ ID NO:63):
AGGAGCAGCGCACCCGCACGAGCCTTGGACCCTTTGGAACCGAAAGCACGCCCGTCCTCRGAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCG
GAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAA
CACCCATGGCTGTCGCCGCATCGTGGTGTCCCGCKGCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAG
TGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTCAGTTTCCATCAAAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGCAACATCAACC
CCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTAYGGCTTTCCAGAGTCCCGGAAGCG
CCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATYCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAG
GCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCRGYGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCRAGTCCAAGCAAGTGGTGGGAT
TCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACAT
CATGGCACAGGTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCTGCTGAGGAGCTGCTGGTGACCTGCTTCTTTGATGGAGTGTCCTGTGATGCCAGG
AATTTCACGCTTTTCCACCACCCGATGCATGGGAATTGCTATACTTTCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGGGGCAGCGAAT
ATGGGCTGCAAGTCATTTTGTACATAAACGAAGAGGAATACAACCCATTCCTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTA
TCCCTTCGTCGAAGATGTGGGAACAGAGATTGAGACAGCAATGGTCACCTCTATAGGAATGCACCTGACAGAGTCCTTCAAGCTGAGTGAGCCCTACAGT
CAGTGCACGGAGGACGGGAGTGACGTGCCAATCAGGAACATCTACAACGCTGCCTACTCGCTCCAGATCTGCCTTCATTCATGCTTCCAGACAAAGATGG
TGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGCAGCCAACTACTGCAACTACCAGCAGCACCCCAACTGGATGTATTGTTACTACCA
ACTGCATCGAGCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTGTGCAAGGAAGCCTGCAGCTTTAAAGAGTGGACACTAACCACAAGCCTGGCACAA
TGGCCATCTGTGGTTTCGGAGAAGTGGTTGCTGCCTGTTCTCACTTGGGACCAAGGCCGGCAAGTAAACAAAAAGCTCAACAAGACAGACTTGGCCAAAC
TCTTGATATTCTACAAAGACCTGAACCAGAGATCCATCATGGAGAGCCCAGCCAACAGTATTGAGATGCTTCTGTCCAACTTCGGTGGCCAGCTGGGCCT
GTGGATGAGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAG
GAGTGGTRGGCCTRGAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCA
CTTTCAACTCTGCTTTGCACCTGCCTCCAGCCCTAGGAACCCAAGTGCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTC
CAACCAGCTCACAGATACCCAGATGCTGGATGAGCTSTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGKTCTAAGGACATGGATC
GGGTGCCCCCAGACRTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCKG
GGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACYTGAACTATTAGCACGTCACTAGAG
ACTGGGARCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCC
CAAAGCCGAGGGTTTCACCCACACTGCCAGCCTGGGTTGGGGCCCAAGGATGTGACCTTGAGTGTCAAGGCTGGACAGCTACTGCCAGATGCCAAAGATA
GGAGAAAGTGCCAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTGTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAG
AACTGGCCCAGRGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGWGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGCCAAGAA
TTTTTATTTTTGCTTTTAAATAGCAAAAGAAGAAGATTCTGTGACTCATGAAAATGATATGAGATTCGAATTCCAGTGTCTATAAATAAAGTTTTATTGG
TACACAGCC

Protein Sequence    (SEQ ID NO:760):
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTIC
NINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQ
VVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQ
TKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTD
LAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL


SNP Information

Context             (SEQ ID NO:2589):
GCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGAC
Y
TGAACTATTAGCACGTCACTAGAGACTGGGAGCCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGA
Celera SNP ID:            hCV11895904
SNP Position Transcript:  2276
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(T,37|C,111)      total(C,111|T,37) ;HYP3(T,37|C,111)   total(C,111|T,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2590):
GCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCCGCATCGTGGTGTCCCGC
K
GCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACTGTCTC
Celera SNP ID:            hCV11894746
SNP Position Transcript:  235
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(T,6|G,61)      total(G,61|T,6) ;HYP2(T,7|G,61)   total(G,61|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 49, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:2591):
AGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGG
Y
GGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCT
Celera SNP ID:            hCV380785
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38|T,2)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 183, (G,GGC)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;40 Africans; 32 white Americans; 2 CEPH individuals(T,7|C,140)      total(C,140|T,7);HYP3(T,7|C,141)   total(C,141|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 183, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:2592):
GCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGAGACTGGGA
R
CCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACGGGTCTTGAGAGGGAAGGACTCTTCCAAAGCCCCAAAGCCG
Celera SNP ID:            hCV11895905
SNP Position Transcript:  2308
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,37|G,111)      total(G,111|A,37) ;HYP3(A,37|G,111)   total(G,111|A,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2593):
TGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGAT
Y
CCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAA
Celera SNP ID:            hCV11894747
SNP Position Transcript:  564
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 158, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(C,22|T,125)      total(C,22|T,125) ;HYP3(C,22|T,126)   total(C,22|T,126)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 158, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:2594):
CAGTCACCATCTGCAACATCAACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTA
Y
GGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCT
Celera SNP ID:            hCV380786
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,31)   total(C,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 129, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,6)      total(C,6|T,3) ;40 Africans; 32 white Americans; 2 CEPH individuals(C,37|T,111)      total(C,37|T,111);no_pop(C,-|T,-)   HYP3(C,37|T,111)   total(C,37|T,111) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 129, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:2595):
CAGCCCTGAAGCTGGAGCCGTTTGTGAATAAACTGTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAG
R
GCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGCCAAGAATTTTTATTTTTG
Celera SNP ID:            hCV11895906
SNP Position Transcript:  2612
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|A,111)      total(G,37|A,111) ;HYP3(G,37|A,111)   total(G,37|A,111)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2596):
AAAGCAGCCTAGATTCTCCCACCGGATCCCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTC
R
GCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCAC
Celera SNP ID:            hCV11894748
SNP Position Transcript:  637
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 183, (S,AGC)   (G,GGC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 183, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:2597):
GTTCTTCATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAGGGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCG
W
GGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGCCAAGAATTTTTATTTTTGCTTTTAAATAGCAAAAGAAGAAGATTCTGTGACT
Celera SNP ID:            hCV11895907
SNP Position Transcript:  2646
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,44|T,103)      total(A,44|T,103) ;HYP3(A,44|T,104)   total(A,44|T,104)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2598):
TCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCT
R
GAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAACTCTGCT
Celera SNP ID:            hCV27860514
SNP Position Transcript:  1814
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 575, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2599):
GAACCCAAGTGCCCGGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCT
S
TGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCC
Celera SNP ID:            hCV11895900
SNP Position Transcript:  2037
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,12)   caucasian(C,27|G,7)   total(C,49|G,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 649, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,12)   caucasian(C,28|G,8)   total(C,52|G,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 649, (L,CTC)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,37|C,111)      total(G,37|C,111) ;HYP3(G,37|C,111)   total(G,37|C,111)no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:760, 649, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:2600):
TTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATG
K
TCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAAC
Celera SNP ID:            hCV11895901
SNP Position Transcript:  2084
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(T,4|G,76)      total(G,76|T,4) ;HYP1(T,4|G,76)   total(G,76|T,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2601):
AGGAGCAGCGCACCCGCACGAGCCTTGGACCCTTTGGAACCGAAAGCACGCCCGTCCTC
R
GAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCTCAGGCGCCGA
Celera SNP ID:            hCV380792
SNP Position Transcript:  60
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,33|G,7)   total(A,64|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:760, None

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,31|G,5)   total(A,62|G,6)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:760, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;40 Africans; 32 white Americans; 2 CEPH individuals(G,66|A,81)      total(G,66|A,81);HYP3(G,67|A,81)   total(G,67|A,81)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2602):
AGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGT
R
GGCCTGGAAACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACTTTCAAC
Celera SNP ID:            hCV27528860
SNP Position Transcript:  1808
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 573, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:2603):
ATACCCAGATGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGAC
R
TGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCCTGGGCATGCGCAGGAGG
Celera SNP ID:            hCV11895902
SNP Position Transcript:  2115
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2604):
TCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCC
K
GGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGA
Celera SNP ID:            hCV11895903
SNP Position Transcript:  2199
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(G,29|T,118)      total(G,29|T,118) ;HYP3(G,30|T,118)   total(G,30|T,118)no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:760, None   



Context             (SEQ ID NO:2605):
TGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATC
R
AGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTA
Celera SNP ID:            hCV11894753
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 197, (K,AAG)   (E,GAG)   

SNP Source:               HGBASE
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(A,3|G,64)   total(G,64|A,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:760, 197, (K,AAG)   (E,GAG)      



Gene Number:                 33
Celera Gene:                 hCG16924 - 63000132519791
Celera Transcript:           hCT7966 - 63000132519792
Public Transcript Accession: NM_006862
Celera Protein:              hCP33589 - 197000069373046
Public Protein Accession:    NP_006853
Gene Symbol:                 TDRKH
Protein Name:                tudor and KH domain containing protein;TDRD2
Celera Genomic Axis:         GA_x5YUV32VSLS(9600014..9618981)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:64):
CGGCTGAAGCGCCGCCGGCGGGGCTCACTGTGGTGGTGTGAGTGGGAGGCGGCGGCGCTGGTGGCTGCAGCTGGGGTGAGGCGCGAGGCGGCGCACTCGA
CGGCTGACTGGAGCAGCGGTAAAGGCGAGGATGGAGACCGAAGGATATAAGTCAAAGAGTACAGCAGAAAATGTCTACTGAACGGACTTCTTGGACAAGC
CTGTCCACCATTCAGAAAATAGCCCTGGGCCTTGGGATCCCAGCCAGTGCAACAGTTGCCTATATCCTATACCGCAGGTATAGGGAAAGCAGAGAAGAGC
GGCTGACATTTGTTGGGGAAGATGACATTGAGATAGAGATGCGGGTTCCCCAGGAGGCTGTGAAACTCATCATTGGCCGGCAAGGAGCCAATATTAAACA
GCTGCGGAAACAGACAGGTGCTCGGATTGATGTGGACACAGAGGATGTAGGCGATGAGCGAGTGCTGCTTATCAGTGGTTTTCCTGTTCAGGTGTGCAAG
GCCAAAGCAGCAATCCATCAGATCCTGACAGAGAATACCCCAGTGTCTGAGCAGCTTTCAGTTCCCCAGAGATCTGTGGGCAGAATCATAGGGAGAGGCG
GCGAGACAATTCGTTCTATCTGTAAGGCATCTGGAGCCAAAATTACCTGTGACAAAGAATCAGAAGGGACATTACTACTATCAAGACTTATAAAAATCTC
AGGAACACAGAAGGAAGTGGCAGCAGCCAAGCATTTGATACTGGAGAAAGTTTCAGAAGATGAAGAACTTCGGAAGAGAATTGCTCATTCTGCAGAAACC
AGGGTCCCACGCAAACAGCCAATCAGTGTGAGAAGAGAAGACATGACAGAGCCAGGTGGAGCTGGAGAGCCAGCATTATGGAAAAACACCAGTTCTAGCA
TGGAGCCGACTGCACCCCTGGTGACTCCTCCACCCAAAGSAGGAGGCGACATGGCTGTGGTAGTGTCAAAGGAAGGTTCCTGGGAGAAACCTAGTGATGA
CAGCTTTCAGAAGTCTGAAGCCCAGGCCATCCCAGAGATGCCCATGTTTGAAATCCCCAGTCCTGACTTCAGTTTTCATGCTGATGAGTACCTAGAAGTC
TACGTTTCTGCTTCTGAGCACCCTAACCACTTCTGGATCCAGATCGTTGGCTCCCGCAGCCTGCAATTGGATAAGCTTGTCAATGAGATGACCCAGCACT
ATGAGAATAGTGTGCCTGAAGACTTGACTGTGCATGTAGGAGACATTGTAGCAGCACCTTTACCTACAAATGGTTCCTGGTATCGAGCCCGGGTCCTCGG
CACCTTGGAGAATGGGAACTTGGACCTCTATTTTGTTGACTTTGGAGATAATGGAGATTGCCCACTGAAGGACCTCAGGGCTCTCAGGAGTGACTTCCTA
AGCCTTCCATTTCAAGCAATAGAATGTAGTCTGGCACGGATTGCTCCCTCAGGTGACCAGTGGGAAGAGGAAGCTTTGGATGAGTTTGATAGACTCACTC
AYTGTGCTGACTGGAAGCCTCTGGTAGCCAAGATCTCTAGCTATGTCCAGACTGGGATCTCAACTTGGCCAAAGATCTACTTATATGATACTAGCAATGG
GAAGAAACTTGATATTGGGCTAGAATTAGTACACAAAGGATACGCAATTGAGCTTCCTGAAGACATAGAAGAAAACAGAGCTGTCCCAGACATGTTGAAG
GACATGGCCACAGAAACAGATGCCTCTCTCAGCACGTTGCTCACTGAGACCAAAAAGAGCTCTGGAGAGATAACACATACCCTGTCCTGCCTCAGCTTAT
CAGAAGCTGCTTCCATGTCTGGTGATGATAACCTTGAAGATGACTACTTACTCTGAAGTCTGGGCTTCAGTTTGCTCAGCCATCTGCTTTGCTGTATGTT
GCCTGCAATGAACTCGCTGAAGCRTGCTCAGCCCTGGAACTGGTGCTACCAGAGTTCCGTAGGGAACCTTTACTCTTTAGAGGTTCCCTGATATAAATCA
TTCATAAGACTTCCTACCCTGGAAAATGAGTAATGTCTCATTCTTACCTGCAGTTTGTTACTATGTATAAAAGTCTTTTTCTTTAATATGCCTTTAAGTC
TTACCTGTTTACAGCCCATTCTGATGGGTTCTTTGTCATTCTGTTAGTATAACCCAGTACTTTTCCTGCTGCCTGGAATGCCCTCTTCTRTGTTACCTAT
TCTGTCCGTTGAGATCCCCCAACTTGGGCCAAAGCCAAGAGATCTATGTGCCTTCTCTGGTTTTCTCCACATCTATAGCACCTCAACTGAAATATATGGA
TAAAAACAGCCTAACAAA

Protein Sequence    (SEQ ID NO:761):
MSTERTSWTSLSTIQKIALGLGIPASATVAYILYRRYRESREERLTFVGEDDIEIEMRVPQEAVKLIIGRQGANIKQLRKQTGARIDVDTEDVGDERVLL
ISGFPVQVCKAKAAIHQILTENTPVSEQLSVPQRSVGRIIGRGGETIRSICKASGAKITCDKESEGTLLLSRLIKISGTQKEVAAAKHLILEKVSEDEEL
RKRIAHSAETRVPRKQPISVRREDMTEPGGAGEPALWKNTSSSMEPTAPLVTPPPKGGGDMAVVVSKEGSWEKPSDDSFQKSEAQAIPEMPMFEIPSPDF
SFHADEYLEVYVSASEHPNHFWIQIVGSRSLQLDKLVNEMTQHYENSVPEDLTVHVGDIVAAPLPTNGSWYRARVLGTLENGNLDLYFVDFGDNGDCPLK
DLRALRSDFLSLPFQAIECSLARIAPSGDQWEEEALDEFDRLTHCADWKPLVAKISSYVQTGISTWPKIYLYDTSNGKKLDIGLELVHKGYAIELPEDIE
ENRAVPDMLKDMATETDASLSTLLTETKKSSGEITHTLSCLSLSEAASMSGDDNLEDDYLL


SNP Information

Context             (SEQ ID NO:2606):
GACATGACAGAGCCAGGTGGAGCTGGAGAGCCAGCATTATGGAAAAACACCAGTTCTAGCATGGAGCCGACTGCACCCCTGGTGACTCCTCCACCCAAAG
S
AGGAGGCGACATGGCTGTGGTAGTGTCAAAGGAAGGTTCCTGGGAGAAACCTAGTGATGACAGCTTTCAGAAGTCTGAAGCCCAGGCCATCCCAGAGATG
Celera SNP ID:            hCV25645436
SNP Position Transcript:  940
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,2|G,36)   total(C,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:761, 257, (A,GCA)   (G,GGA)   



Context             (SEQ ID NO:2607):
GCCTTTAAGTCTTACCTGTTTACAGCCCATTCTGATGGGTTCTTTGTCATTCTGTTAGTATAACCCAGTACTTTTCCTGCTGCCTGGAATGCCCTCTTCT
R
TGTTACCTATTCTGTCCGTTGAGATCCCCCAACTTGGGCCAAAGCCAAGAGATCTATGTGCCTTCTCTGGTTTTCTCCACATCTATAGCACCTCAACTGA
Celera SNP ID:            hCV27487036
SNP Position Transcript:  2190
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(G,113|A,944)   total(G,113|A,944)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:761, None   



Context             (SEQ ID NO:2608):
GCCTTCCATTTCAAGCAATAGAATGTAGTCTGGCACGGATTGCTCCCTCAGGTGACCAGTGGGAAGAGGAAGCTTTGGATGAGTTTGATAGACTCACTCA
Y
TGTGCTGACTGGAAGCCTCTGGTAGCCAAGATCTCTAGCTATGTCCAGACTGGGATCTCAACTTGGCCAAAGATCTACTTATATGATACTAGCAATGGGA
Celera SNP ID:            hCV25645441
SNP Position Transcript:  1502
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,17|T,23)   total(C,21|T,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:761, 444, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:2609):
GATGATAACCTTGAAGATGACTACTTACTCTGAAGTCTGGGCTTCAGTTTGCTCAGCCATCTGCTTTGCTGTATGTTGCCTGCAATGAACTCGCTGAAGC
R
TGCTCAGCCCTGGAACTGGTGCTACCAGAGTTCCGTAGGGAACCTTTACTCTTTAGAGGTTCCCTGATATAAATCATTCATAAGACTTCCTACCCTGGAA
Celera SNP ID:            hCV27501688
SNP Position Transcript:  1924
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:761, None   



Gene Number:                 34
Celera Gene:                 hCG16944 - 64000127233979
Celera Transcript:           hCT6695 - 64000127233980
Public Transcript Accession: NM_013383
Celera Protein:              hCP37237 - 197000064954815
Public Protein Accession:    NP_037515
Gene Symbol:                 TCFL4
Protein Name:                transcription factor-like 4;MAD7;MLX;MXD7
Celera Genomic Axis:         GA_x5YUV32VU68(4246201..4252250)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:65):
CGCCACCCGCTTCCTCGCCGCAGGGGGCCMGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTG
GGTCAAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGGCTTTTTGTAGAAAGCACCCGCAAGGGGAGTGTAGTGTCCAGAGCTAATAGCATC
GGTTCCACCAGTGCCTCTTCTGTCCCCAACACAGATGATGAGGACAGTGATTACCACCAGGAGGCCTACAAGGAGTCCTACAAAGACCGGCGGCGGCGCG
CACACACTCAGGCTGAGCAGAAGAGGAGGGACGCCATCAAGAGAGGCTATGATGACCTTCAGACCATCGTCCCCACTTGCCAGCAGCAGGACTTCTCCAT
TGGCTCCCAAAAGCTCAGCAAAGCCATCGTTCTACAAAAGACCATTGACTACATTCAGTTTTTGCACAAGGAGAAGAAAAAGCAGGAGGAGGAGGTGTCC
ACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTATGAGCAGATTGTGAAGGCACACCRGGACAACCCCCATGAAGGGGAGGACCAGG
TCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCCATCTCAGTGGCCAGCTTCCAGGAGCTGTC
AGCRTGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCTGCGGGAGATTGTGATTGGCGTCCTGCACCAATTGAAAAACCAGCTTTACTGA
CCGGTTCTTGGAAACCTGGAGAACAGCCAACAAGAGGCCCTTGAATCTCTACGTGGCCACTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCAC
ACTGGTCAGCTGGTTTSTACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGCRGAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTT
ATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTTGGGATGGGCRTCTGCTCTGGACACCCCAAAGAGCTCCTGC
CCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACATAGATTTGGAAACTGTTTTCCTCTGTTTTGGTCTCTTGGGCAACATTTTTGGC
CCAAGTTTGGGCAACATTTGGCCCAAGTTTGGGCATTTTGGCAGTAGCTGTATGGGAGAAAAAGAGTAAGAGGAAATATTCCCACAGCCATGAAGGGTGA
AAGGGCACCTTGTGCCTAGACTAGGGCTGCCTGGTCAGTCCCAGGTGAGGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTC
ACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAGCCCTCCYGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACA
CAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTTTTGCTACGGTTACAATTTTGAAATATTAACTGAGCCTCAAAATCACCCTTT
CTGTCAAGCATATCTTGGCCTCTCCCATGTCTCAGTGTTGCCTGCATTTCTCCCAGGACTTGGGGGTGGGGTGAAAAGCGTACAAAAGATACTTAAAAGG
GCTCCTGGGGTACACAAGCCCAGCAGGTCCTGAGTGAAGCCGTGGGCCCTCCAAATGCTCGTTTTATAGCAACCTCTCTCTACCCTAGTTCTCCAAATTC
ACTTCTGCCTTCCTCAGGTTTGATATCTGGCAGGTTTGACTATCCAGAGGAAATTAAATATTTTTATATAAAATTAAATTATAATAAATATTGCCAAATG
CTTTCCTTTAGCATTGTTCCAAGTCTAAATGTTAACCTCAAGCTACTGCAATTTAGACAATGAAATGGGCTGGGTCTACCCCCAGCCACCAGCCCTCATC
CTCTCTACCCAGTGCTCTGGTTTATGCTTGTCTCCTGACTGCTCTGCTTAAAGGTGAAAGTAGCAGGAACAACAACAAAAGCCAACCAAAAACAAGGTAG
CCAGTGCAAGACATCTCACTCTTCTGACATCCTGCAGTCCCCACCAGTCCTGACCGTGGGCCCCTCAGGGGTCTGGGAGTGTGACGTTGTAATCTTCATC
CGTCTCTATCCCAACTTCCTCCTGTGAGACAGGGAGACAAGTGAATGAGATGTCACCAGGATAAGACCACAGGGAAGCAAAGAAGGAAGAGAGCTCCACT
TACAA

Protein Sequence    (SEQ ID NO:762):
MTEPGASPEDPWVKVEYAYSDNSLDPGLFVESTRKGSVVSRANSIGSTSASSVPNTDDEDSDYHQEAYKESYKDRRRRAHTQAEQKRRDAIKRGYDDLQT
IVPTCQQQDFSIGSQKLSKAIVLQKTIDYIQFLHKEKKKQEEEVSTLRKDVTALKIMKVNYEQIVKAHRDNPHEGEDQVSDQVKFNVFQGIMDSLFQSFN
ASISVASFQELSACVFSWIEEHCKPQTLREIVIGVLHQLKNQLY


SNP Information

Context             (SEQ ID NO:2610):
CTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCCATCTCAGTGGCCAGCTTCCAGGAGCTGTCAGC
R
TGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCTGCGGGAGATTGTGATTGGCGTCCTGCACCAATTGAAAAACCAGCTTTACTGACCGG
Celera SNP ID:            hCV7529579
SNP Position Transcript:  704
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,10|G,30)   total(A,11|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:762, 213, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:762, 213, (A,GCA)   (A,GCG)      213, (A,GCG)   (A,GCA)      



Context             (SEQ ID NO:2611):
CGCCACCCGCTTCCTCGCCGCAGGGGGCC
M
GCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGTGGAGTATGCCTACAGCGACAA
Celera SNP ID:            hCV27839973
SNP Position Transcript:  30
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,31)   caucasian(C,38)   total(A,1|C,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:762, None



Context             (SEQ ID NO:2612):
CTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTTCTACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGC
R
GAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTT
Celera SNP ID:            hCV25645632
SNP Position Transcript:  960
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,34)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:762, None



Context             (SEQ ID NO:2613):
TGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTTGGGATGGGC
R
TCTGCTCTGGACACCCCAAAGAGCTCCTGCCCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACATAGATTTGGAAACTGTTTTCCTC
Celera SNP ID:            hCV7529584
SNP Position Transcript:  1070
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:762, None   



Context             (SEQ ID NO:2614):
GAGAAGAAAAAGCAGGAGGAGGAGGTGTCCACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTATGAGCAGATTGTGAAGGCACACC
R
GGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCC
Celera SNP ID:            hCV2769191
SNP Position Transcript:  571
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,8)   caucasian(A,22|G,10)   total(A,50|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:762, 169, (Q,CAG)   (R,CGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:762, 169, (Q,CAG)   (R,CGG)      169, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:2615):
GGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAG
C
CCTCCCGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTT
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1449
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|C,12)   total(C,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:762, None   



Context             (SEQ ID NO:2616):
GGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAGCCCTCC
Y
GGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTTTTGCTA
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1455
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_GEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:762, None   



Context             (SEQ ID NO:2617):
TGGAGAACAGCCAACAAGAGGCCCTTGAATCTCTACGTGGCCACTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTT
S
TACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGCGGAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAA
Celera SNP ID:            hCV2350913
SNP Position Transcript:  917
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:762, None   



Gene Number:                 34
Celera Gene:                 hCG16944 - 64000127233979
Celera Transcript:           hCT1967575 - 64000127233992
Public Transcript Accession: NM_013383
Celera Protein:              hCP1780839 - 197000064954816
Public Protein Accession:    NP_037515
Gene Symbol:                 TCFL4
Protein Name:                transcription factor-like 4;MAD7;MLX;MXD7
Celera Genomic Axis:         GA_x5YUV32VU68(4246211..4252180)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:66):
TTCCTCGCCGCAGGGGGCCMGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCA
AGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCC
CCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGGCT
TTTTGTAGAAAGCACCCGCAAGGGGAGTGTAGTGTCCAGAGCTAATAGCATCGGTTCCACCAGTGCCTCTTCTGTCCCCAACACAGGTAGGCAGTAACAT
CCCCCCCGACCTCRGGGGGCTCAGATATGTCATAATTGTARTACCTTTCCTAGACAGGGAAGCCCCAGCCATCCACACAGGGGTGCTGGAGCCAAAGTAT
CAGACASAAGGTCTCACCATCTTTCACCTCATCTGGAACATTAGGTGGTTCTGTCCATCTGCCTTCTCTGGACACCAGGTTCTTCCCAGCTGGGGAAAGG
TGGGCTAGCTGGACCCCACTGGGCCCCAAGATGACCTTTCCCTGCCCCCATCTCTGAGCGTAGATGATGAGGACAGTGATTACCACCAGGAGGCCTACAA
GGAGTCCTACAAAGACCGGCGGCGGCGCGCACACACTCAGGCTGAGCAGAAGAGGAGGGACGCCATCAAGAGAGGCTATGATGACCTTCAGACCATCGTC
CCCACTTGCCAGCAGCAGGACTTCTCCATTGGCTCCCAAAAGCTCAGCAAAGCCATCGTTCTACAAAAGACCATTGACTACATTCAGTTTTTGCACAAGG
AGAAGAAAAAGCAGGAGGAGGAGGTGTCCACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTATGAGCAGATTGTGAAGGCACACCR
GGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCC
ATCTCAGTGGCCAGCTTCCAGGAGCTGTCAGCRTGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCTGCGGGAGATTGTGATTGGCGTCC
TGCACCAATTGAAAAACCAGCTTTACTGACCGGTTCTTGGAAACCTGGAGAACAGCCAACAAGAGGCCCTTGAATCTCTACGTGGCCACTGAACTGCTGG
GCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTTSTACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGCRGAGCCGCGGTG
TTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTTGGGATGGGCRT
CTGCTCTGGACACCCCAAAGAGCTCCTGCCCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACATAGATTTGGAAACTGTTTTCCTCT
GTTTTGGTCTCTTGGGCAACATTTTTGGCCCAAGTTTGGGCAACATTTGGCCCAAGTTTGGGCATTTTGGCAGTAGCTGTATGGGAGAAAAAGAACTAGG
GCTGCCTGGTCAGTCCCAGGTGAGGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCC
TCTGCTCTGGGTGGTAAGGGAAGCCCTCCYGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTT
ATTTTTCTAAATACCAATGCAGTTTTGCTACGGTTACAATTTTGAAATATTAACTGAGCCTCAAAATCACCCTTTCTGTCAAGCATATCTTGGCCTCTCC
CATGTCTCAGTGTTGCCTGCATTTCTCCCAGGACTTGGGGGTGGGGTGAAAAGCGTACAAAAGATACTTAAAAGGGCTCCTGGGGTACACAAGCCCAGCA
GGTCCTGAGTGAAGCCGTGGGCCCTCCAAATGCTCGTTTTATAGCAACCTCTCTCTACCCTAGTTCTCCAAATTCACTTCTGCCTTCCTCAGGTTTGATA
TCTGGCAGGTTTGACTATCCAGAGGAAATTAAATATTTTTATATAAAATTAAATTATAATAAATATTGCCAAATGCTTTCCTTTAGCATTGTTCCAAGTC
TAAATGTTAACCTCAAGCTACTGCAATTTAGACAATGAAATGGGCTGGGTCTACCCCCAGCCACCAGCCCTCATCCTCTCTACCCAGTGCTCTGGTTTAT
GCTTGTCTCCTGACTGCTCTGCTTAAAGGTGAAAGTAGCAGGAACAACAACAAAAGCCAACCAAAAACAAGGTAGCCAGTGCAAGACATCTCACTCTTCT
GACATCCTGCAGTCCCCACCAGTCCTGACCGTGGGCCCCTCAGGGGTCTGGGAGTGTGACGTTGTAATCTTCATCCGTCTCTATCCCAACTTCCTCCTGT
GAGACAGGGA

Protein Sequence    (SEQ ID NO:763):
MTEPGASPEDPWVKASPVGAHAGEGRAGRARARRGAGRRGASLLSPKSPTLSVPRGCREDSSHPACAKVEYAYSDNSLDPGLFVESTRKGSVVSRANSIG
STSASSVPNTGRQ


SNP Information

Context             (SEQ ID NO:2618):
TTCCTCGCCGCAGGGGGCC
M
GCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGC
Celera SNP ID:            hCV27839973
SNP Position Transcript:  20
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,31)   caucasian(C,38)   total(A,1|C,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:763, None



Context             (SEQ ID NO:2619):
CTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCCATCTCAGTGGCCAGCTTCCAGGAGCTGTCAGC
R
TGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCTGCGGGAGATTGTGATTGGCGTCCTGCACCAATTGAAAAACCAGCTTTACTGACCGG
Celera SNP ID:            hCV7529579
SNP Position Transcript:  1133
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,10|G,30)   total(A,11|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2620):
GCTAATAGCATCGGTTCCACCAGTGCCTCTTCTGTCCCCAACACAGGTAGGCAGTAACATCCCCCCCGACCTCAGGGGGCTCAGATATGTCATAATTGTA
R
TACCTTTCCTAGACAGGGAAGCCCCAGCCATCCACACAGGGGTGCTGGAGCCAAAGTATCAGACACAAGGTCTCACCATCTTTCACCTCATCTGGAACAT
Celera SNP ID:            hCV2350910
SNP Position Transcript:  441
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,5|G,19)   total(A,15|G,47)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,695|G,796)   total(G,796|A,695)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2621):
GGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAG
C
CCTCCCGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTT
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1824
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|C,12)   total(C,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2622):
TGGAGAACAGCCAACAAGAGGCCCTTGAATCTCTACGTGGCCACTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTT
S
TACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGCGGAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAA
Celera SNP ID:            hCV2350913
SNP Position Transcript:  1346
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2623):
CTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTTCTACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGC
R
GAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTT
Celera SNP ID:            hCV25645632
SNP Position Transcript:  1389
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,34)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None



Context             (SEQ ID NO:2624):
CGACCTCAGGGGGCTCAGATATGTCATAATTGTAGTACCTTTCCTAGACAGGGAAGCCCCAGCCATCCACACAGGGGTGCTGGAGCCAAAGTATCAGACA
S
AAGGTCTCACCATCTTTCACCTCATCTGGAACATTAGGTGGTTCTGTCCATCTGCCTTCTCTGGACACCAGGTTCTTCCCAGCTGGGGAAAGGTGGGCTA
Celera SNP ID:            hCV25645625
SNP Position Transcript:  507
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,24)   total(C,59|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None



Context             (SEQ ID NO:2625):
ACCCGCAAGGGGAGTGTAGTGTCCAGAGCTAATAGCATCGGTTCCACCAGTGCCTCTTCTGTCCCCAACACAGGTAGGCAGTAACATCCCCCCCGACCTC
R
GGGGGCTCAGATATGTCATAATTGTAGTACCTTTCCTAGACAGGGAAGCCCCAGCCATCCACACAGGGGTGCTGGAGCCAAAGTATCAGACACAAGGTCT
Celera SNP ID:            hCV2769190
SNP Position Transcript:  414
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,15)   caucasian(A,10|G,14)   total(A,27|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,6)      total(G,2|A,6) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2626):
TGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTTGGGATGGGC
R
TCTGCTCTGGACACCCCAAAGAGCTCCTGCCCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACATAGATTTGGAAACTGTTTTCCTC
Celera SNP ID:            hCV7529584
SNP Position Transcript:  1499
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2627):
GAGAAGAAAAAGCAGGAGGAGGAGGTGTCCACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTATGAGCAGATTGTGAAGGCACACC
R
GGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCC
Celera SNP ID:            hCV2769191
SNP Position Transcript:  1000
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,8)   caucasian(A,22|G,10)   total(A,50|G,18)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Context             (SEQ ID NO:2628):
GGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAGCCCTCC
Y
GGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTTTTGCTA
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1830
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_GEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:763, None   



Gene Number:                 34
Celera Gene:                 hCG16944 - 64000127233979
Celera Transcript:           hCT1967577 - 64000127234004
Public Transcript Accession: NM_013383
Celera Protein:              hCP1780824 - 197000064954817
Public Protein Accession:    NP_037515
Gene Symbol:                 TCFL4
Protein Name:                transcription factor-like 4;MAD7;MLX;MXD7
Celera Genomic Axis:         GA_x5YUV32VU68(4246211..4252309)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:67):
TTCCTCGCCGCAGGGGGCCMGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCA
AGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCC
CCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGGCT
TTTTGTAGAAAGCACCCGCAAGGGGAGTGTAGTGTCCAGAGCTAATAGCATCGGTTCCACCAGTGCCTCTTCTGTCCCCAACACAGATGATGAGGACAGT
GATTACCACCAGGAGGCCTACAAGGAGTCCTACAAAGACCGGCGGCGGCGCGCACACACTCAGGCTGAGCAGAAGAGGAGGGACGCCATCAAGAGAGGCT
ATGATGACCTTCAGACCATCGTCCCCACTTGCCAGCAGCAGGACTTCTCCATTGGCTCCCAAAAGCTCAGCAAAGCCATCGTTCTACAAAAGACCATTGA
CTACATTCAGTTTTTGCACAAGGAGAAGAAAAAGCAGGAGGAGGAGGTGTCCACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTAT
GAGCAGATTGTGAAGGCACACCRGGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCC
TGTTCCAGTCCTTCAATGCCTCCATCTCAGTGGCCAGCTTCCAGGAGCTGTCAGCRTGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCT
GCGGGAGATTGTGATTGGCGTCCTGCACCAATTGAAAAACCAGCTTTACTGACCGGTTCTTGGAAACCTGGAGAACAGCCAACAAGAGGCCCTTGAATCT
CTACGTGGCCACTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTTSTACTTGGTGTTTGGTTTTTCCCAGCCCCATT
TTATCTTCAGCRGAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCC
ATGGAAGTCCTTGGGATGGGCRTCTGCTCTGGACACCCCAAAGAGCTCCTGCCCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACAT
AGATTTGGAAACTGTTTTCCTCTGTTTTGGTCTCTTGGGCAACATTTTTGGCCCAAGTTTGGGCAACATTTGGCCCAAGTTTGGGCATTTTGGCAGTAGC
TGTATGGGAGAAAAAGAGTAAGAGGAAATATTCCCACAGCCATGAAGGGTGAAAGGGCACCTTGTGCCTAGACTAGGGCTGCCTGGTCAGTCCCAGGTGA
GGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAG
CCCTCCYGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGT
TTTGCTACGGTTACAATTTTGAAATATTAACTGAGCCTCAAAATCACCCTTTCTGTCAAGCATATCTTGGCCTCTCCCATGTCTCAGTGTTGCCTGCATT
TCTCCCAGGACTTGGGGGTGGGGTGAAAAGCGTACAAAAGATACTTAAAAGGGCTCCTGGGGTACACAAGCCCAGCAGGTCCTGAGTGAAGCCGTGGGCC
CTCCAAATGCTCGTTTTATAGCAACCTCTCTAAAATTAAATTATAATAAATATTGCCAAATGCTTTCCTTTAGCATTGTTCCAAGTCTAAATGTTAACCT
CAAGCTACTGCAATTTAGACAATGAAATGGGCTGGGTCTACCCCCAGCCACCAGCCCTCATCCTCTCTACCCAGTGCTCTGGTTTATGCTTGTCTCCTGA
CTGCTCTGCTTAAAGGTGAAAGTAGCAGGAACAACAACAAAAGCCAACCAAAAACAAGGTAGCCAGTGCAAGACATCTCACTCTTCTGACATCCTGCAGT
CCCCACCAGTCCTGACCGTGGGCCCCTCAGGGGTCTGGGAGTGTGACGTTGTAATCTTCATCCGTCTCTATCCCAACTTCCTCAAAGAACTGCTTCTTGC
TCTTGGGGTATCCTTCAAGTATTGCATCAGACAGCTCTGTAGCC

Protein Sequence    (SEQ ID NO:764):
MTEPGASPEDPWVKASPVGAHAGEGRAGRARARRGAGRRGASLLSPKSPTLSVPRGCREDSSHPACAKVEYAYSDNSLDPGLFVESTRKGSVVSRANSIG
STSASSVPNTDDEDSDYHQEAYKESYKDRRRRAHTQAEQKRRDAIKRGYDDLQTIVPTCQQQDFSIGSQKLSKAIVLQKTIDYIQFLHKEKKKQEEEVST
LRKDVTALKIMKVNYEQIVKAHRDNPHEGEDQVSDQVKFNVFQGIMDSLFQSFNASISVASFQELSACVFSWIEEHCKPQTLREIVIGVLHQLKNQLY


SNP Information

Context             (SEQ ID NO:2629):
CTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCCATCTCAGTGGCCAGCTTCCAGGAGCTGTCAGC
R
TGTGTCTTCAGCTGGATCGAGGAGCACTGTAAGCCTCAGACCCTGCGGGAGATTGTGATTGGCGTCCTGCACCAATTGAAAAACCAGCTTTACTGACCGG
Celera SNP ID:            hCV7529579
SNP Position Transcript:  856
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,10|G,30)   total(A,11|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:764, 267, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:764, 267, (A,GCA)   (A,GCG)      267, (A,GCG)   (A,GCA)      



Context             (SEQ ID NO:2630):
TTCCTCGCCGCAGGGGGCC
M
GCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGC
Celera SNP ID:            hCV27839973
SNP Position Transcript:  20
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,31)   caucasian(C,38)   total(A,1|C,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:764, None



Context             (SEQ ID NO:2631):
CTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTTCTACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGC
R
GAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTT
Celera SNP ID:            hCV25645632
SNP Position Transcript:  1112
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,34)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:764, None



Context             (SEQ ID NO:2632):
TGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAAACTCAAACCTACCCAGCCTTCCCCCCACTCCATGGAAGTCCTTGGGATGGGC
R
TCTGCTCTGGACACCCCAAAGAGCTCCTGCCCTCTCAGCCCTTTATTCAAGCCTCAGATTTCTGCTCATGATCTACATAGATTTGGAAACTGTTTTCCTC
Celera SNP ID:            hCV7529584
SNP Position Transcript:  1222
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:764, None   



Context             (SEQ ID NO:2633):
GAGAAGAAAAAGCAGGAGGAGGAGGTGTCCACGTTACGCAAGGATGTCACCGCCCTAAAGATCATGAAAGTGAACTATGAGCAGATTGTGAAGGCACACC
R
GGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAGGTCAAGTTCAACGTGTTTCAAGGCATCATGGATTCCCTGTTCCAGTCCTTCAATGCCTCC
Celera SNP ID:            hCV2769191
SNP Position Transcript:  723
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,8)   caucasian(A,22|G,10)   total(A,50|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:764, 223, (Q,CAG)   (R,CGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:764, 223, (Q,CAG)   (R,CGG)      223, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:2634):
GGCCAAGGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAG
C
CCTCCCGGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTT
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1601
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|C,12)   total(C,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:764, None   



Context             (SEQ ID NO:2635):
GGGCTTTCTGGCCATCTCAGGGAGGGGCCACCAGGTTCCTCCCCTCACCCCATATTCCATCACCTTCCTCCTCTGCTCTGGGTGGTAAGGGAAGCCCTCC
Y
GGTTCCCACAGGCTATGATGCTGCATGGCAGAGGCAGGTATAACACAGCACTACATATTGGAAATTTTTTATTTTTCTAAATACCAATGCAGTTTTGCTA
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1607
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_GEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:764, None   



Context             (SEQ ID NO:2636):
TGGAGAACAGCCAACAAGAGGCCCTTGAATCTCTACGTGGCCACTGAACTGCTGGGCCCGGGAGACTGGACTACAACACCTCACACTGGTCAGCTGGTTT
S
TACTTGGTGTTTGGTTTTTCCCAGCCCCATTTTATCTTCAGCGGAGCCGCGGTGTTTGTTTTGTGAAAGCTTCTGATTAATTTATTATATTGACGATAAA
Celera SNP ID:            hCV2350913
SNP Position Transcript:  1069
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:764, None   



Gene Number:                 35
Celera Gene:                 hCG16948 - 64000127257960
Celera Transcript:           hCT1967512 - 64000127257984
Public Transcript Accession: NM_016556
Celera Protein:              hCP1780843 - 197000064954788
Public Protein Accession:    NP_057640
Gene Symbol:                 HUMGT198A
Protein Name:                GT198, complete ORF;TBPIP
Celera Genomic Axis:         GA_x5YUV32VU68(4251203..4256941)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:68):
ATGGAGTCCGGGAGGGGTCGCTTTGCTCCTCCGGAAGGCTTCCCCTTCAGCCAATCACCGTTCGAGGCCCGCCCCCGTCGCCGGAAGGAGCCGTCGCCCC
GAGCAACTACAACGTCCGGCTTTCTGAGTTGGGTGGCGGGAAAGGCGATGAGTAAAGGCCGGGCAGAAGCTGCGGCGGGAGCCGCCGGGATCCTCCTGAG
GTACCTGCAGGAGCAGAACCGGCCCTACAGCTCCCAGGATGTGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTG
GAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTAYGGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTG
ACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTAAGGTGCAGAGCTTGCAGCAGAGCTGCCGCTACATGGAGGCTGAGCTCAAGGAATTATC
TAGTGCCCTGACCACACCAGAGATGCAGAAAGAAATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACC
AATCATGTGACTCCAGAAGAGAAAGAGCAGGTGWACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTG
ATGCAATACTTGAAGGATACCCCAAGAGCAAGAAGCAGTTCTTTGAGGAAGTTGGGATAGAGACGGATGAAGATTACAACGTCACACTCCCAGACCCCTG
AGGGGCCCACGGTCAGGACTGGTGGGGACTGCAGGATGTCAGAAGAGTGAGATGTCTTGCACTGGCTACCTTGTTTTTGGTTGGCTTTTGTTGTTGTTCC
TGCTACTTTCACCTTTAAGCAGAGCAGTCAGGAGACAAGCATAAACCACCCATTTCATTGTCTAAATTGCAGTAGCTTGAGGTTAACATTTAGACTTGGA
ACAATGCTAAAGGAAAGCATTTGGCAATATTTATTATAATTTAATTTTATATAAAAATATTTAATTTCCTCTGGATAGTCAAACCTGCCAGATATCAAAC
CTGAGGAAGGCAGAAGTGAATTTGGAGAACTAGGGTAGAGAGAGGTTGCTATAAAACGAGCATTTGGAGGGCCCACGGCTTCACTCAGGACCTGCTGGGC
TTGTGTACCCCAGGAGCCCTTTTAAGTATCTTTTGTACGCTTTTCACCCCACCCCCAAGTCCTGGGAGAAATGCAGGCAACACTGAGACATGGGAGAGGC
CAAGATATGCTTGACAGAAAGGGTGATTTTGAGGCTCAGTTAATATTTCAAAATTGTAACCGTAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATT
TCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCRGGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAG
GTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCCTCACCTGGGACTGACCAGGCAGCCCTAGTCT
AGGCACAAGGTGCCCTTTCACCCTTCATGGCTGTGGGAATATTTCCTCTTACTCTTTTT

Protein Sequence    (SEQ ID NO:765):
MESGRGRFAPPEGFPFSQSPFEARPRRRKEPSPRATTTSGFLSWVAGKAMSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTL
EQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAAT
NHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP


SNP Information

Context             (SEQ ID NO:2637):
AATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTG
W
ACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAA
Celera SNP ID:            hCV15969189
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,30)   caucasian(T,40)   total(A,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:765, 212, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(T,36)   total(A,7|T,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:765, 212, (N,AAC)   (Y,TAC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,162|T,1335)   total(A,162|T,1335) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:765, 212, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:2638):
TGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTA
Y
GGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTGACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTA
Celera SNP ID:            hCV25769264
SNP Position Transcript:  342
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:765, 114, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:2639):
AACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCGGGAGG
G
CTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCC
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1469
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,12)   total(G,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:765, None   



Context             (SEQ ID NO:2640):
TAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACC
R
GGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCC
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1463
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_CEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:765, None   



Gene Number:                 35
Celera Gene:                 hCG16948 - 64000127257960
Celera Transcript:           hCT7990 - 64000127257961
Public Transcript Accession: NM_016556
Celera Protein:              hCP37249 - 197000064954786
Public Protein Accession:    NP_057640
Gene Symbol:                 HUMGT198A
Protein Name:                GT198, complete ORF;TBPIP
Celera Genomic Axis:         GA_x5YUV32VU68(4251203..4256941)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:69):
ATGGAGTCCGGGAGGGGTCGCTTTGCTCCTCCGGAAGGCTTCCCCTTCAGCCAATCACCGTTCGAGGCCCGCCCCCGTCGCCGGAAGGAGCCGTCGCCCC
GAGCAACTACAACGTCCGGCTTTCTGAGTTGGGTGGCGGGAAAGGCGATGAGTAAAGGCCGGGCAGAAGCTGCGGCGGGAGCCGCCGGGATCCTCCTGAG
GTACCTGCAGGAGCAGAACCGGCCCTACAGCTCCCAGGATGTGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTG
GAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTAYGGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTG
ACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTAAGGTGCAGAGCTTGCAGCAGAGCTGCCGCTACATGGAGGCTGAGCTCAAGGAATTATC
TAGTGCCCTGACCACACCAGAGATGCAGAAAGAAATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACC
AATCATGTGACTCCAGAAGAGAAAGAGCAGGTGWACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTG
ATGCAATACTTGAAGGATACCCCAAGAGCAAGAAGCAGTTCTTTGAGGAAGTTGGGATAGAGACGGATGAAGATTACAACGTCACACTCCCAGACCCCTG
AGGGGCCCACGGTCAGGACTGGTGGGGACTGCAGGATGTCAGAAGAGTGAGATGTCTTGCACTGGCTACCTTGTTTTTGGTTGGCTTTTGTTGTTGTTCC
TGCTACTTTCACCTTTAAGCAGAGCAGTCAGGAGACAAGCATAAACCAGAGCACTGGGTAGAGAGGATGAGGGCTGGTGGCTGGGGGTAGACCCAGCCCA
TTTCATTGTCTAAATTGCAGTAGCTTGAGGTTAACATTTAGACTTGGAACAATGCTAAAGGAAAGCATTTGGCAATATTTATTATAATTTAATTTTATAT
AAAAATATTTAATTTCCTCTGGATAGTCAAACCTGCCAGATATCAAACCTGAGGAAGGCAGAAGTGAATTTGGAGAACTAGGGTAGAGAGAGGTTGCTAT
AAAACGAGCATTTGGAGGGCCCACGGCTTCACTCAGGACCTGCTGGGCTTGTGTACCCCAGGAGCCCTTTTAAGTATCTTTTGTACGCTTTTCACCCCAC
CCCCAAGTCCTGGGAGAAATGCAGGCAACACTGAGACATGGGAGAGGCCAAGATATGCTTGACAGAAAGGGTGATTTTGAGGCTCAGTTAATATTTCAAA
ATTGTAACCGTAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCC
TGTGGGAACCRGGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGG
CCAGAAAGCCCTTGGCCTCACCTGGGACTGACCAGGCAGCCCTAGTCTAGGCACAAGGTGCCCTTTCACCCTTCATGGCTGTGGGAATATTTCCTCTTAC
TCTTTTT

Protein Sequence    (SEQ ID NO:766):
MESGRGRFAPPEGFPFSQSPFEARPRRRKEPSPRATTTSGFLSWVAGKAMSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTL
EQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAAT
NHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP


SNP Information

Context             (SEQ ID NO:2641):
AATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTG
W
ACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAA
Celera SNP ID:            hCV15969189
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,30)   caucasian(T,40)   total(A,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:766, 212, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(T,36)   total(A,7|T,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:766, 212, (N,AAC)   (Y,TAC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,162|T,1335)   total(A,162|T,1335) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:766, 212, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:2642):
TGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTA
Y
GGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTGACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTA
Celera SNP ID:            hCV25769264
SNP Position Transcript:  342
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:766, 114, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:2643):
AACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCGGGAGG
G
CTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCC
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1517
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,12)   total(G,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:766, None   



Context             (SEQ ID NO:2644):
TAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACC
R
GGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCC
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1511
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_CEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:766, None   



Gene Number:                 35
Celera Gene:                 hCG16948 - 64000127257960
Celera Transcript:           hCT1967513 - 64000127257997
Public Transcript Accession: NM_016556
Celera Protein:              hCP1780838 - 197000064954789
Public Protein Accession:    NP_057640
Gene Symbol:                 HUMGT198A
Protein Name:                GT198, complete ORF;TBPIP
Celera Genomic Axis:         GA_x5YUV32VU68(4251203..4256941)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:70):
ATGGAGTCCGGGAGGGGTCGCTTTGCTCCTCCGGAAGGCTTCCCCTTCAGCCAATCACCGTTCGAGGCCCGCCCCCGTCGCCGGAAGGAGCCGTCGCCCC
GAGCAACTACAACGTCCGGCTTTCTGAGTTGGGTGGCGGGAAAGGCGATGAGTAAAGGCCGGGCAGAAGCTGCGGCGGGAGCCGCCGGGATCCTCCTGAG
GTACCTGCAGGAGCAGAACCGGCCCTACAGCTCCCAGGATGTGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTG
GAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTAYGGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTG
ACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTAAGGTGCAGAGCTTGCAGCAGAGCTGCCGCTACATGGAGGCTGAGATGCAGAAAGAAAT
CCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTGWAC
AGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAAGC
AGTTCTTTGAGGAAGTTGGGATAGAGACGGATGAAGATTACAACGTCACACTCCCAGACCCCTGAGGGGCCCACGGTCAGGACTGGTGGGGACTGCAGGA
TGTCAGAAGAGTGAGATGTCTTGCACTGGCTACCTTGTTTTTGGTTGGCTTTTGTTGTTGTTCCTGCTACTTTCACCTTTAAGCAGAGCAGTCAGGAGAC
AAGCATAAACCACCCATTTCATTGTCTAAATTGCAGTAGCTTGAGGTTAACATTTAGACTTGGAACAATGCTAAAGGAAAGCATTTGGCAATATTTATTA
TAATTTAATTTTATATAAAAATATTTAATTTCCTCTGGATAGTCAAACCTGCCAGATATCAAACCTGAGGAAGGCAGAAGTGAATTTGGAGAACTAGGGT
AGAGAGAGGTTGCTATAAAACGAGCATTTGGAGGGCCCACGGCTTCACTCAGGACCTGCTGGGCTTGTGTACCCCAGGAGCCCTTTTAAGTATCTTTTGT
ACGCTTTTCACCCCACCCCCAAGTCCTGGGAGAAATGCAGGCAACACTGAGACATGGGAGAGGCCAAGATATGCTTGACAGAAAGGGTGATTTTGAGGCT
CAGTTAATATTTCAAAATTGTAACCGTAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCC
ATGCAGCATCATAGCCTGTGGGAACCRGGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGG
CCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCCTCACCTGGGACTGACCAGGCAGCCCTAGTCTAGGCACAAGGTGCCCTTTCACCCTTCATGGCTGTGG
GAATATTTCCTCTTACTCTTTTT

Protein Sequence    (SEQ ID NO:767):
MESGRGRFAPPEGFPFSQSPFEARPRRRKEPSPRATTTSGFLSWVAGKAMSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTL
EQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVY
RERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP


SNP Information

Context             (SEQ ID NO:2645):
AATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTG
W
ACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAA
Celera SNP ID:            hCV15969189
SNP Position Transcript:  598
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,30)   caucasian(T,40)   total(A,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:767, 200, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(T,36)   total(A,7|T,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:767, 200, (N,AAC)   (Y,TAC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,162|T,1335)   total(A,162|T,1335) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:767, 200, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:2646):
TGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTA
Y
GGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTGACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTA
Celera SNP ID:            hCV25769264
SNP Position Transcript:  342
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:767, 114, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:2647):
AACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCGGGAGG
G
CTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCC
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1433
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,12)   total(G,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:767, None   



Context             (SEQ ID NO:2648):
TAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACC
R
GGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCC
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1427
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_CEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:767, None   



Gene Number:                 35
Celera Gene:                 hCG16948 - 64000127257960
Celera Transcript:           hCT1958863 - 64000127257973
Public Transcript Accession: NM_016556
Celera Protein:              hCP1762059 - 197000064954787
Public Protein Accession:    NP_057640
Gene Symbol:                 HUMGT198A
Protein Name:                GT198, complete ORF;TBPIP
Celera Genomic Axis:         GA_x5YUV32VU68(4251203..4256816)
Chromosome:                  Chr17
OMIM number:                 602976
OMIM Information:            TRANSCRIPTION FACTOR-LIKE 4;TCFL4


Transcript Sequence (SEQ ID NO:71):
GAGTTGGGTGGCGGGAAAGGCGATGAGTAAAGGCCGGGCAGAAGCTGCGGCGGGAGGTAACGGCGCCGTGGGCGCGGGGAAGACCCGGGAGGGCAGTGGG
TGAGGAGGTCGGTTGAGTGGCCCSCTCCCCTGCCTTTCTCTCCGTAGCCGCCGGGATCCTCCTGAGGTACCTGCAGGAGCAGAACCGGCCCTACAGCTCC
CAGGATGTGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGA
AGATGTAYGGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTGACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCT
CACTGCTAAGGTGCAGAGCTTGCAGCAGAGCTGCCGCTACATGGAGGCTGAGCTCAAGGAATTATCTAGTGCCCTGACCACACCAGAGATGCAGAAAGAA
ATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTGW
ACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAA
GCAGTTCTTTGAGGAAGTTGGGATAGAGACGGATGAAGATTACAACGTCACACTCCCAGACCCCTGAGGGGCCCACGGTCAGGACTGGTGGGGACTGCAG
GATGTCAGAAGAGTGAGATGTCTTGCACTGGCTACCTTGTTTTTGGTTGGCTTTTGTTGTTGTTCCTGCTACTTTCACCTTTAAGCAGAGCAGTCAGGAG
ACAAGCATAAACCAGAGCACTGGGTAGAGAGGATGAGGGCTGGTGGCTGGGGGTAGACCCAGCCCATTTCATTGTCTAAATTGCAGTAGCTTGAGGTTAA
CATTTAGACTTGGAACAATGCTAAAGGAAAGCATTTGGCAATATTTATTATAATTTAATTTTATATAAAAATATTTAATTTCCTCTGGATAGTCAAACCT
GCCAGATATCAAACCTGAGGAAGGCAGAAGTGAATTTGGAGAACTAGGGTAGAGAGAGGTTGCTATAAAACGAGCATTTGGAGGGCCCACGGCTTCACTC
AGGACCTGCTGGGCTTGTGTACCCCAGGAGCCCTTTTAAGTATCTTTTGTACGCTTTTCACCCCACCCCCAAGTCCTGGGAGAAATGCAGGCAACACTGA
GACATGGGAGAGGCCAAGATATGCTTGACAGAAAGGGTGATTTTGAGGCTCAGTTAATATTTCAAAATTGTAACCGTAGCAAAACTGCATTGGTATTTAG
AAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCRGGAGGGCTTCCCTTACCACCCAG
AGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCCTCACCTGGGACTGACCA
GGCAGCCCTAGTCTAGGCACAAGGTGCCCTTTCACCCTTCATGGCTGTGGGAATATTTCCTCTTACTCTTTTT

Protein Sequence    (SEQ ID NO:768):
MYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVY
RERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP


SNP Information

Context             (SEQ ID NO:2649):
AATCCAGGAGTTAAAGAAGGAATGCGCTGGCTACAGAGAGAGATTGAAGAACATTAAAGCAGCTACCAATCATGTGACTCCAGAAGAGAAAGAGCAGGTG
W
ACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGCTACAGAGCTGTCTGATGCAATACTTGAAGGATACCCCAAGAGCAAGAA
Celera SNP ID:            hCV15969189
SNP Position Transcript:  600
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,30)   caucasian(T,40)   total(A,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:768, 100, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,31)   caucasian(T,36)   total(A,7|T,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:768, 100, (N,AAC)   (Y,TAC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,162|T,1335)   total(A,162|T,1335) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:768, 100, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:2650):
TGAGTAAAGGCCGGGCAGAAGCTGCGGCGGGAGGTAACGGCGCCGTGGGCGCGGGGAAGACCCGGGAGGGCAGTGGGTGAGGAGGTCGGTTGAGTGGCCC
S
CTCCCCTGCCTTTCTCTCCGTAGCCGCCGGGATCCTCCTGAGGTACCTGCAGGAGCAGAACCGGCCCTACAGCTCCCAGGATGTGTTCGGGAACCTACAG
Celera SNP ID:            hCV25767906
SNP Position Transcript:  124
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,36)   total(C,69|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:768, None



Context             (SEQ ID NO:2651):
TGTTCGGGAACCTACAGCGGGAACACGGACTGGGCAAGGCGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTA
Y
GGCAAGCAGAAGATCTATTTTGCGGATCAGGACCAGTTTGACATGGTGAGTGATGCTGACCTTCAAGTCCTAGATGGCAAAATCGTGGCCCTCACTGCTA
Celera SNP ID:            hCV25769264
SNP Position Transcript:  308
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:768, 2, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:2652):
AACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACCGGGAGG
G
CTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCCTTGGCC
Celera SNP ID:            hCV26309344
SNP Position Transcript:  1483
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,12)   total(G,12|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:768, None   



Context             (SEQ ID NO:2653):
TAGCAAAACTGCATTGGTATTTAGAAAAATAAAAAATTTCCAATATGTAGTGCTGTGTTATACCTGCCTCTGCCATGCAGCATCATAGCCTGTGGGAACC
R
GGAGGGCTTCCCTTACCACCCAGAGCAGAGGAGGAAGGTGATGGAATATGGGGTGAGGGGAGGAACCTGGTGGCCCCTCCCTGAGATGGCCAGAAAGCCC
Celera SNP ID:            hCV7529585
SNP Position Transcript:  1477
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;POOLE|_CEPH(A,54|G,134)   total(G,134|A,54)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:768, None   



Gene Number:                 36
Celera Gene:                 hCG17046 - 66000115636126
Celera Transcript:           hCT8093 - 66000115636127
Public Transcript Accession: NM_002163
Celera Protein:              hCP34369 - 197000069427465
Public Protein Accession:    NP_002154
Gene Symbol:                 ICSBP1
Protein Name:                interferon consensus sequence binding protein 1;ICSBP;IRF-8;IRF8
Celera Genomic Axis:         GA_x5YUV32W3V0(2278518..2301962)
Chromosome:                  Chr16
OMIM number:                 601565
OMIM Information:            INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1;ICSBP1


Transcript Sequence (SEQ ID NO:72):
GCGGCAGCAAGCGTGGGAACGCGGGCGGCRRGACGGCGGCAGGACGGCGGCAGGATGTGTGACCGGAATGGTGGTCGGCGGCTTCGACAGTGGCTGATCG
AGCAGATTGACAGTAGCATGTATCCAGGACTGATTTGGGAGAATGAGGAGAAGAGCATGTTCCGGATCCCTTGGAAACACGCTGGCAAGCAAGATTATAA
TCAGGAAGTGGATGCCTCCATTTTTAAGRCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTA
CGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGRACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGG
AAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTGYGTGAATGAAGTTACAGAGATGGAGTGYGGTCGCTCTGAAATCGAYGAGCTGATCAAGGA
GCCTTCTGTGGACGATTACATGGGGATGATCAAAAGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGTGGGCGCAGCAGCCC
AGCACAGGCGTGCCGCTGGTGACGGGRTACACCACCTACGACGCGCACCATTCAGCATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGG
TGGGCCAGGCCACCACCACCTGCCCYGAGGGCTGCCGCCTGTCCCTGAGCCAGCCTGGGCTGCCCGGCACCAAGCTGTATGGGCCCGAGGGCCTGGAGCT
GGTGCGCTTCCCGCCGGCCGACGCCATCCCCAGCGAGCGACAGAGGCAGGTGACGCGGAAGCTGTTCGGGCACCTGGAGCGCGGGGTGCTGCTGCACAGC
AGCCGGCAGGGCGTGTTCGTCAAGCGGCTGTGCCAGGGCCGCGTGTTYTGCAGCGGCAACGCCGTGGTGTGCAAAGGCAGGCCCAACAAGCTGGAGCGTG
ATGAGGTGGTCCAGGTCTTCGACACCAGCCAGTTCTTCCGAGAGCTGCAGCAGTTCTATAACAGCCAGGGCCGGCTTCCTGACRGCAGGGTGGTGCTGTG
CTTTGGGGAAGAGTTTCCGGATATGGCCCCCTTGCGCTCCAAACTCATTCTCGTGCAGATTGAGCAGCTGTATGTCCGGCAACTGGCAGAAGAGGCTGGG
AAGAGCTGTGGAGCCGGCTCTGTGATGCAGGCCCCCGAGGAGCCGCCRCCAGACCAGGTCTTCCGGATGTTTCCAGATATTTGTGCCTCACACCAGAGAT
CATTTTTCAGAGAAAACCAACAGATCACCGTCTAAGTGCGTCGCTTGGGCGCCCCACCCCGTCTGCGTCCTGCATCCATCTCCCTGTTACAGTGGCCCGC
ATCATGATTAAAGAATGTGGATCCCTCTGTCTGGGGTGGGATGCCTTACTTTGCACTTAATTTAATAAGGGCATTCTCGGAGGAGTAGACGTTTAATACG
AAGTGGCGGCATAGCCCTGCCGAGATGTCGGTGATGGCCTGGATGCTGTAACCACAACCTGTGGCTAAAAATTTTATTTTCTATCCTTTACCCGTCATTA
TCATTAGTTGCTATGATTCTTTCTGCATTTTCGGTTAACTATCATTTCCAAAGACTTGTCATTCAGTAATATTAGCAGATAGCTGCTTCGATAAAGGAAT
TTGGAGTTTAAAAATCAACTTGTGAAAACAAGGTTGTTTTTGTCTTTATCKTTTGTTAGAGTTATAGATTTATGATTTCATAGGCTTGATTCTATGTGAA
ATATCTTTTTACTTTTATGCATTTTAATAAGATTTAAAAATATTTAGATTAAAGCCCCCTTTAATGAGTACAAGAAAAACTCTTGGCTTGTTAGAAGAAA
GTATATTCTTTCTAGAATTTGGTGCAGGAATATGTGTTCATATCCAGGCAAACGGGTGTGTTTTTATCTTCAGACAATGAAACCTTCTCCTCTGGGGCTT
TGTTGCCAGGAAGATTAGAACTAAATTTATTTTTTTCATTTCTGTCATGAAATCATTCCAGATACCTCTTTTCTTCTTTCCAAATGGTTTTCACATGTGT
TTGAAATATYTGTACTTYGAATTGTCGGATTTTCCATGTCCTCCTTTCTCCTTTGTGCCCAGCCTGAGTCAGCACCATCCCGCATTCAGAACCTCCCAGT
GAAAGGGCAGCCTTCATTTTGAGAAGGTGGAAGGTGTTAGGGTTTGGGAGACAGCTCATCCAATCTCCCAAGTCTCATGGTGGATTTGTGACTGTGAGAG
TTTCCGGTTTAAAATCTGAAAAGCCAGATATGCCTGTTTCCTTTTCCCAGCACCATGCCTGTGGAGGGGACAGTCAGACCCAGAGGTCCTTTACGTGTGG
ATGGAGTTCACAGGCGAATAGAGGAGAGGACCAGGGGACGTGGCTTGTCCCTTTTGTCCAACAAAGCATTATATTTTTAAGAATGGCAGWCCTGTTTGCT
GAAGTGTTCATAAGATAACAATAGGCTTGAATCTCCAATTCAAATGAATGTCAAAGCACATATCTTTAATATGCTGAATGAATATTTATTTTTGTATCCA
TTAAAACAGTATATTGATCTCTTTTATTCTTTATTAAAATAAAATGCTCTTTTTT

Protein Sequence    (SEQ ID NO:769):
MCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAWAVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQ
LDISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHS
AFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGVFVKRLCQGRVFCS
GNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSVMQAPEEPPPD
QVFRMFPDICASHQRSFFRENQQITV


SNP Information

Context             (SEQ ID NO:2654):
AAGACTTGTCATTCAGTAATATTAGCAGATAGCTGCTTCGATAAAGGAATTTGGAGTTTAAAAATCAACTTGTGAAAACAAGGTTGTTTTTGTCTTTATC
K
TTTGTTAGAGTTATAGATTTATGATTTCATAGGCTTGATTCTATGTGAAATATCTTTTTACTTTTATGCATTTTAATAAGATTTAAAAATATTTAGATTA
Celera SNP ID:            hCV3189980
SNP Position Transcript:  1751
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|T,7)      total(G,3|T,7) ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2655):
GAAGATTAGAACTAAATTTATTTTTTTCATTTCTGTCATGAAATCATTCCAGATACCTCTTTTCTTCTTTCCAAATGGTTTTCACATGTGTTTGAAATAT
Y
TGTACTTTGAATTGTCGGATTTTCCATGTCCTCCTTTCTCCTTTGTGCCCAGCCTGAGTCAGCACCATCCCGCATTCAGAACCTCCCAGTGAAAGGGCAG
Celera SNP ID:            hCV3189981
SNP Position Transcript:  2110
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,8)      total(C,1|T,8) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2656):
GAACTAAATTTATTTTTTTCATTTCTGTCATGAAATCATTCCAGATACCTCTTTTCTTCTTTCCAAATGGTTTTCACATGTGTTTGAAATATTTGTACTT
Y
GAATTGTCGGATTTTCCATGTCCTCCTTTCTCCTTTGTGCCCAGCCTGAGTCAGCACCATCCCGCATTCAGAACCTCCCAGTGAAAGGGCAGCCTTCATT
Celera SNP ID:            hCV3189982
SNP Position Transcript:  2118
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2657):
TTCTCGTGCAGATTGAGCAGCTGTATGTCCGGCAACTGGCAGAAGAGGCTGGGAAGAGCTGTGGAGCCGGCTCTGTGATGCAGGCCCCCGAGGAGCCGCC
R
CCAGACCAGGTCTTCCGGATGTTTCCAGATATTTGTGCCTCACACCAGAGATCATTTTTCAGAGAAAACCAACAGATCACCGTCTAAGTGCGTCGCTTGG
Celera SNP ID:            hCV15957725
SNP Position Transcript:  1248
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 398, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:2658):
AGGTGACGCGGAAGCTGTTCGGGCACCTGGAGCGCGGGGTGCTGCTGCACAGCAGCCGGCAGGGCGTGTTCGTCAAGCGGCTGTGCCAGGGCCGCGTGTT
Y
TGCAGCGGCAACGCCGTGGTGTGCAAAGGCAGGCCCAACAAGCTGGAGCGTGATGAGGTGGTCCAGGTCTTCGACACCAGCCAGTTCTTCCGAGAGCTGC
Celera SNP ID:            hCV25646341
SNP Position Transcript:  948
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 298, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:2659):
GGTACACCACCTACGACGCGCACCATTCAGCATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGGTGGGCCAGGCCACCACCACCTGCCC
Y
GAGGGCTGCCGCCTGTCCCTGAGCCAGCCTGGGCTGCCCGGCACCAAGCTGTATGGGCCCGAGGGCCTGGAGCTGGTGCGCTTCCCGCCGGCCGACGCCA
Celera SNP ID:            hCV25646342
SNP Position Transcript:  726
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,36)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 224, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:2660):
CGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTG
Y
GTGAATGAAGTTACAGAGATGGAGTGCGGTCGCTCTGAAATCGACGAGCTGATCAAGGAGCCTTCTGTGGACGATTACATGGGGATGATCAAAAGGAGCC
Celera SNP ID:            hCV25646350
SNP Position Transcript:  441
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,38)   total(C,66|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 129, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:2661):
ACTGATTTGGGAGAATGAGGAGAAGAGCATGTTCCGGATCCCTTGGAAACACGCTGGCAAGCAAGATTATAATCAGGAAGTGGATGCCTCCATTTTTAAG
R
CCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTT
Celera SNP ID:            hCV8898522
SNP Position Transcript:  229
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2662):
GCGGCAGCAAGCGTGGGAACGCGGGCGGC
R
AGACGGCGGCAGGACGGCGGCAGGATGTGTGACCGGAATGGTGGTCGGCGGCTTCGACAGTGGCTGATCGAGCAGATTGACAGTAGCATGTATCCAGGAC
Celera SNP ID:            hCV619501
SNP Position Transcript:  30
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2663):
TAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACG
R
ACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTGCGT
Celera SNP ID:            hCV25646351
SNP Position Transcript:  343
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:769, 97, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:2664):
TGATCAAAAGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGTGGGCGCAGCAGCCCAGCACAGGCGTGCCGCTGGTGACGGG
R
TACACCACCTACGACGCGCACCATTCAGCATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGGTGGGCCAGGCCACCACCACCTGCCCCG
Celera SNP ID:            hCV25646343
SNP Position Transcript:  627
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,27)   total(A,1|G,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 191, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:2665):
GCGGCAGCAAGCGTGGGAACGCGGGCGGCG
R
GACGGCGGCAGGACGGCGGCAGGATGTGTGACCGGAATGGTGGTCGGCGGCTTCGACAGTGGCTGATCGAGCAGATTGACAGTAGCATGTATCCAGGACT
Celera SNP ID:            hCV619502
SNP Position Transcript:  31
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:769, None   



Context             (SEQ ID NO:2666):
CAACAAGCTGGAGCGTGATGAGGTGGTCCAGGTCTTCGACACCAGCCAGTTCTTCCGAGAGCTGCAGCAGTTCTATAACAGCCAGGGCCGGCTTCCTGAC
R
GCAGGGTGGTGCTGTGCTTTGGGGAAGAGTTTCCGGATATGGCCCCCTTGCGCTCCAAACTCATTCTCGTGCAGATTGAGCAGCTGTATGTCCGGCAACT
Celera SNP ID:            hCV25646339
SNP Position Transcript:  1084
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,36)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:769, 344, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:2667):
AGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTGCGTGAATGAAGTTACAGAGATGGAGTG
Y
GGTCGCTCTGAAATCGACGAGCTGATCAAGGAGCCTTCTGTGGACGATTACATGGGGATGATCAAAAGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTC
Celera SNP ID:            hCV3189961
SNP Position Transcript:  468
SNP Source:               Applera
Population(Allele,Count): african american(C,24)   caucasian(C,32|T,6)   total(C,56|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 138, (C,TGC)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 138, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:2668):
GAATTGTTCCTGAGGAAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTGCGTGAATGAAGTTACAGAGATGGAGTGCGGTCGCTCTGAAATCGA
Y
GAGCTGATCAAGGAGCCTTCTGTGGACGATTACATGGGGATGATCAAAAGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGT
Celera SNP ID:            hCV25646349
SNP Position Transcript:  486
SNP Source:               Applera
Population(Allele,Count): african american(C,22)   caucasian(C,36|T,2)   total(C,58|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:769, 144, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2669):
TTTACGTGTGGATGGAGTTCACAGGCGAATAGAGGAGAGGACCAGGGGACGTGGCTTGTCCCTTTTGTCCAACAAAGCATTATATTTTTAAGAATGGCAG
W
CCTGTTTGCTGAAGTGTTCATAAGATAACAATAGGCTTGAATCTCCAATTCAAATGAATGTCAAAGCACATATCTTTAATATGCTGAATGAATATTTATT
Celera SNP ID:            hCV12110061
SNP Position Transcript:  2490
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|A,6)      total(A,6|T,1) ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:769, None   



Gene Number:                 37
Celera Gene:                 hCG17112 - 84000314096018
Celera Transcript:           hCT8160 - 84000314096019
Public Transcript Accession: NM_002291
Celera Protein:              hCP34799 - 197000069468771
Public Protein Accession:    NP_002282
Gene Symbol:                 LAMB1
Protein Name:                laminin, beta 1
Celera Genomic Axis:         GA_x5YUV32W188(5129907..5209521)
Chromosome:                  Chr7
OMIM number:                 150240
OMIM Information:            LAMININ, BETA-1;LAMB1


Transcript Sequence (SEQ ID NO:73):
GGGACCTGGAAGCGCCCCAGCCCCGCAGCGATCGCAGAYTCGGCTTTCAAACAAAAGAGGCGCCCCGGGGGGTGGGACCGGGACCTCACCCGGTCCTCGC
AGAGTTGCGGCCGCCCGCCCCTTCAGCCCCGGCTCTCCGTATGCGCATGAGCAGAGGCGCCTCCCTCTGTTCCTCCCAAGGCTAAACTTTCTAATTCCCT
TCTTTGGGCTCGGGGGCTCCCGGAGCAGGGCGAGAGCTCGCGTCGCCGGAAAGGAAGACGGGAAGAAAGGGCAGGCGGCTCGGCGGGCGTCTTCTCCACT
CCTCTGCCGCGTCCCCGTGGCTGCAGGGAGCCGGCATGGGGCTTCTCCAGTTGCTAGCTTTCAGTTTCTTAGCCCTGTGCAGAGCCCGAGTGCGCGCTCA
GGAACCCGAGTTCAGCTACGGCTGCGCAGAAGGCAGCTGCTATCCCGCCACGGGCGACCTTCTCATCGGCCGAGCACAGAAGCTTTCGGTGACCTCGACG
TGCGGGCTGCACAAGCCCGAACCCTACTGTATCGTCAGCCACTTGCAGGAGGACAAAAAATGCTTCATATGCAATTCCCAAGATCCTTATCATGAGACCC
TGAATCCTGACAGCCATCTCATTGAAAATGTGGTCACTACATTTGCTCCAAACCGCCTTAAGATTTGGTGGCAATCTGAAAATGGTGTGGAAAATGTAAC
TATCCAACTGGATTTGGAAGCAGAATTCCATTTTACTCATCTCATAATGACTTTCAAGACATTCCGTCCAGCTGCTATGCTGATAGAACGATCGTCYGAC
TTTGGGAAAACCTGGGGTGTGTATAGATACTTCGCCTATGACTGTGAGGCCTCGTTTCCAGGCATTTCAACTGGCCCCATGAAAAAAGTCGATGACATAA
TTTGTGATTCTCGATATTCTGACATTGAACCCTCAACTGAAGGAGAGGTGATATTTCGTGCTTTAGATCCTGCTTTCAAAATAGAAGATCCTTATAGCCC
AAGGATACAGAATTTATTAAAAATTACCAACTTGAGAATCAAGTTTGTGAAACTGCATACTTTGGGAGATAACCTTCTGGATTCCAGGATGGAAATCAGA
GAAAAGTATTATTATGCAGTTTATGATATGGTGGTTCGAGGAAATTGCTTCTGCTATGGTCATGCCAGCGAATGTGCCCCTGTGGATGGATTCAATGAAG
AAGTGGAAGGAATGGTTCACRGACACTGCATGTGCAGGCATAACACCAAGGGCTTAAACTGTGAACTCTGCATGGATTTCTACCATGATTTACCTTGGAG
ACCTGCTGAAGGCCGAAACAGCAACGCCTGTAAAAAATGTAACTGCAATGAACATTCCATCTCTTGTCACTTTGACATGGCTGTTTACCTGGCCACGGGG
AAYGTCAGCGGAGGCGTGTGTGATGACTGTCAGCACAACACCATGGGGCGCAACTGTGAGCAGTGCAAGYCRTTTTACTACCAGCACCCAGAGAGGGACA
TCCGAGATCCTAATTTCTGTGAACGATGTACGTGTGACCCAGCTGGCTCTCAAAATGAGGGAATTTGTGACAGCTATACTGATTTTTCTACTGGTCTCAT
TGCTGGCCAGTGTCGGTGTAAATTAAATGTGGAAGGAGAACATTGTGATGTTTGCAAAGAAGGCTTCTATGATTTAAGCAGTGAAGATCCATTTGGTTGT
AAATCTTGTGCTTGCAATCCTCTGGGAACAATTCCTGGAGGRAATCCTTGTGATTCCGAGACAGGTCACTGCTACTGCAAGCGTCTGGTGACAGGACAGC
ATTGTGACCAGTGCCTGCCAGAGCACTGGGGCTTAAGCAATGATTTGGATGGATGTCGACCATGTGACTGTGACCTTGGGGGAGCCTTAAACAACAGTTG
CTTTGCRGAGTCAGGCCAGTGCTCATGCCGGCCTCACATGATTGGACGTCAGTGCAACGAAGTGGAACCTGGTTACTACTTTGCCACCCTGGATCACTAC
CTCTATGAAGCGGAGGAAGCCAACTTGGGGCCTGGGGTTAGCATAGTGGAGCGGCAATATATCCAGGACCGGATTCCCTCCTGGACTGGAGCCGGCTTYG
TCCGAGTGCCKGAAGGGGCTTATTTGGAGTTTTTCATTGACAACATACCATATTCCATGGAGTACGACATCCTAATTCGCTACGAGCCACAGCTACCCGA
CCACTGGGAAAAAGCTGTCATCACAGTGCAGCGACCTGGAAGGATTCCAACCAGCAGCCGATGTGGTAATACCATCCCCGATGATGACAACCAGGTGGTG
TCATTATCACCAGGCTCAAGATATGTCGTCCTTCCTCGGCCGGYGTGCTTTGAGAAGGGAACAAACTACACGGTGAGGTTGGAGCTGCCTCAGTACACCT
CCTCTGATAGCGACGTGGAGAGCCCCTACACGCTGATCGATTCTCTTSTTCTCATGCCATACTGTAAATCACTGGACATCTTCACCGTGGGAGGTTCAGG
AGATGGGGTGGTCACCAACAGTGCCTGGGAAACCTTTCAGAGATACCGATGTCTAGAGAACAGCAGAAGCGTTGTGAAAACACCGATGACAGATGTTTGC
AGAAACATCATCTTTAGCATTTCTGCCCTGTTACACCAGACAGGCCTGGCTTGTGAATGCGACCCTCAGGGTTCGTTAAGTTCCGTGTGTGATCCCAACG
GAGGCCAGTGCCAGTGCCGGCCCAACGTGGTTGGAAGAACCTGCAACAGATGTGCACCTGGAACTTTTGGCTTTGGCCCCAGTGGATGCAAACCTTGTGA
GTGCCATCTGCAAGGATCTGTCAATGCCTTCTGCAATCCCGTCACTGGCCAGTGCCACTGTTTCCAGGGAGTGTATGCTCGGCAGTGTGATCGGTGCTTA
CCTGGGCACTGGRGCTTTCCAAGTTGCCAGCCCTGCCAGTGCAATGGCCACGCCGATGACTGCGACCCAGTGACTGGGGAGTGCTTGAACTGCCAGGACT
ACACCATGGGTCATAACTGTGAAAGGTGCTTGGCTGGTTACTATGGCGACCCCATCATTGGGTCAGGAGATCACTGCCGCCCTTGCCCTTGCCCAGATGG
TCCCGACAGTGGACGCCAGTTTGCCAGGAGCTGCTACCAAGATCCTGTTACTTTACAGCTTGCCTGTGTTTGTGATCCTGGATACATTGGTTCCAGATGT
GACRACTGTGCCTCAGGATACTTTGGCAATCCATCAGAAGTTGGGGGGTCGTGTSAGCCTTGCCAGTGTCACAACAACATTGACACGACAGACCCAGAAG
CCTGTGACAAGGAGACTGGGAGGTGTCTCAAGTGCCTGTACCACACGGAAGGGGAACACTGTCAGTTCTGCCGGTTTGGATACTATGGTGATGCCCTCCR
GCAGGACTGTCGAAAGTGTGTCTGTAATTACCTGGGCACCGTGCAAGAGCACTGTAACGGCTCTGACTGCCAGTGYGACAAAGCCACTGGTCAGTGCTTG
TGTCTTCCTAATGTGATCGGGCAGAACTGTGACCGCTGTGCGCCCAATACCTGGCAGCTGGCCAGTGGCACTGGCTGTGACCCATGCAACTGCAATGCTG
CTCATTCCTTCGGGCCATCTTGCAATGAGTTCACGGGGCAGTGCCAGTGCATGCCTGGGTTTGGAGGCCGCACCTGYAGCGAGTGCCAGGAACTCTTCTG
GGGAGACCCCGACGTGGAGTGCCGAGCCTGTGACTGTGACCCCAGGGGCATTGAGACGCCACAGTGTGACCAGTCCACGGGCCAGTGTGTCTGCGTTGAG
GGTGTTGAGGGTCCACGCTGTGACAAGTGCACGCGAGGGTACTCGGGGGTCTTCCCTGACTGCACACCCTGCCACCAGTGCTTTGCTCTCTGGGATGTGA
TCATTGCCGAGCTGACCAACAGGACACACAGATTCCTGGAGAAAGCCAAGGCCTTGAAGATCAGTGGTGTGATCGGGCCTTACCGTGAGACTGTGGACTC
GGTGGAGAGGAAAGTCAGCGAGATAAAAGACATCCTGGCGCAGAGCCCCGCAGCAGAGCCACTGAAAAACATTGGGAATCTCTTTGAGGAAGCAGAGAAA
CTGATTAAAGATGTTACAGAAATGATGGCTCAAGTAGAAGTGAAATTATCTGACACAACTTCCCAAAGCAACAGCACAGCCAAAGAACTGGATTCTCTAC
AGACAGAAGCCGAAAGCCTAGACAACACTGTGAAAGAACTTGCTGAACAACTGGAATTTATCAAAAACTCAGATATTCGGGGTGCCTTGGATAGCATTAC
CAAGTATTTCCAGATGTCTCTTGAGGCAGAGGAGAGGGTGAATGCCTCCACCACAGAACCCAACAGCACTGTGGAGCAGTCAGCCCTCATGAGAGACAGA
GTAGAAGACGTGATGATGGAGCGAGAATCCCAGTTCAAGGAAAAACAAGAGGAGCAGGCTCGCCTCCTTGATGAACTGGCAGGCAAGCTACAAAGCCTAG
ACCTTTCAGCCGCTGCCGAAATGACCTGTGGAACACCCCCAGGGGCCTCCTGTTCYGAGACTKAATGTGGCGGGCCAAACTGCAGAACTGACGAAGGAGA
GAGGAAGTGTGGGGGGCCTGGCTGTGGTGGTCTGGTTACTGTTGCACACAACGCCTGGCAGAAAGCCATGGACTTGGACCAAGATGTCCTGAGTGCCCTG
GCTGAAGTGGAACAGCTCTCCAAGATGGTCTCTGAAGCAAAACTGAGGGCAGATGAGGCAAAACAAAGTGCTGAAGACATTCTGTTGAAGACAAATGCTA
CCAAAGAAAAAATGGACAAGAGCAATGAGGAGCTGAGAAATCTAATCAAGCAAATCAGAAACTTTTTGACCCAGGATAGTGCTGATTTGGACAGCATTGA
AGCAGTTGCTAATGAAGTATTGAAAATGGAGATGCCTAGCACCCCACAGCAGTTACAGAACTTGACAGAAGATAYACGTGAACGAGTTGAAAGCCTTTCT
CAAGTAGAGGTTATTCTTCAGCATAGTGCTGCTGACATTGCCAGAGCTGAGATGTTGTTAGAAGAAGCTAAAAGAGCAAGCAAAAGTGCAACAGATGTTA
AAGTCACTGCAGATATGGTAAAGGAAGCTCTGGAAGAAGCAGAAAAGGCCCAGGTCGCAGCAGAGAAGGCAATTAAACAAGCAGATGAAGACATTCAAGG
AACCCAGAACCTGYTAACTTCGATTGAGTCTGAAACAGCAGCTTCTGAGGAAACCTTGTTCAACGCGTCCCAGCGCATCAGCGAGTTAGAGAGGAATGTG
GAAGAACTTAAGCGGAAAGCTGCCCAAAACTCCGGGGAGGCAGAATATATTGAAAAAGTAGTATATACTGTGAAGCAAAGTGCAGAAGATGTTAAGAAGA
CTTTAGATGGTGAACTTGATGAAAAGTATAAAAAAGTAGAAAATTTAATTGCCAAAAAAACTGAAGAGTCAGCTGATGCCAGAAGGAAAGCCGAAATGCT
ACAAAATGAAGCAAAAACTCTTTTAGCTCAAGCAAATAGCAAGCTGCAACTGCTCAAAGATTTAGAAAGAAAATATGAAGACAATCAAAGATACTTAGAA
GATAAAGCTCAAGAATTAGCAAGACTGGAAGGAGAAGTCCGTTCACTCCTAAAGGATATAAGCCAGAAAGTTGCTGTGTATAGCACATGCTTGTAACAGA
GGAGAATAAAAAATGGCTGAGGTGAMCAAGGTAAAACAACTACATTTTAAAAACTGACTTAATGCTCTTCAAAATAAAACATCACCTATTTAATGTTTTT
AATCACATTTTGTATGGAGTTAAATAAAGTACAGTGCTTTTGTATATATTTTGGTGTACTTGTTACTTTCACTGATTGTTGATGAATCCCTTTTTTCACT
GTAAACGTGGATTTATAAACAA

Protein Sequence    (SEQ ID NO:770):
MGLLQLLAFSFLALCRARVRAQEPEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVV
TTFAPNRLKIWWQSENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPS
TEGEVIFRALDPAFKIEDPYSPRIQNLLKITNLRIKFVKLHTLGDNLLDSRMEIREKYYYAVYDMVVRGNCFCYGHASECAPVDGFNEEVEGMVHGHCMC
RHNTKGLNCELCMDFYHDLPWRPAEGRNSNACKKCNCNEHSISCHFDMAVYLATGNVSGGVCDDCQHNTMGRNCEQCKPFYYQHPERDIRDPNFCERCTC
DPAGSQNEGICDSYTDFSTGLIAGQCRCKLNVEGEHCDVCKEGFYDLSSEDPFGCKSCACNPLGTIPGGNPCDSETGHCYCKRLVTGQHCDQCLPEHWGL
SNDLDGCRPCDCDLGGALNNSCFAESGQCSCRPHMIGRQCNEVEPGYYFATLDHYLYEAEEANLGPGVSIVERQYIQDRIPSWTGAGFVRVPEGAYLEFF
IDNIPYSMEYDILIRYEPQLPDHWEKAVITVQRPGRIPTSSRCGNTIPDDDNQVVSLSPGSRYVVLPRPVCFEKGTNYTVRLELPQYTSSDSDVESPYTL
IDSLVLMPYCKSLDIFTVGGSGDGVVTNSAWETFQRYRCLENSRSVVKTPMTDVCRNIIFSISALLHQTGLACECDPQGSLSSVCDPNGGQCQCRPNVVG
RTCNRCAPGTFGFGPSGCKPCECHLQGSVNAFCNPVTGQCHCFQGVYARQCDRCLPGHWGFPSCQPCQCNGHADDCDPVTGECLNCQDYTMGHNCERCLA
GYYGDPIIGSGDHCRPCPCPDGPDSGRQFARSCYQDPVTLQLACVCDPGYIGSRCDDCASGYFGNPSEVGGSCQPCQCHNNIDTTDPEACDKETGRCLKC
LYHTEGEHCQFCRFGYYGDALQQDCRKCVCNYLGTVQEHCNGSDCQCDKATGQCLCLPNVIGQNCDRCAPNTWQLASGTGCDPCNCNAAHSFGPSCNEFT
GQCQCMPGFGGRTCSECQELFWGDPDVECRACDCDPRGIETPQCDQSTGQCVCVEGVEGPRCDKCTRGYSGVFPDCTPCHQCFALWDVIIAELTNRTHRF
LEKAKALKISGVIGPYRETVDSVERKVSEIKDILAQSPAAEPLKNIGNLFEEAEKLIKDVTEMMAQVEVKLSDTTSQSNSTAKELDSLQTEAESLDNTVK
ELAEQLEFIKNSDIRGALDSITKYFQMSLEAEERVNASTTEPNSTVEQSALMRDRVEDVMMERESQFKEKQEEQARLLDELAGKLQSLDLSAAAEMTCGT
PPGASCSETECGGPNCRTDEGERKCGGPGCGGLVTVAHNAWQKAMDLDQDVLSALAEVEQLSKMVSEAKLRADEAKQSAEDILLKTNATKEKMDKSNEEL
RNLIKQIRNFLTQDSADLDSIEAVANEVLKMEMPSTPQQLQNLTEDIRERVESLSQVEVILQHSAADIARAEMLLEEAKRASKSATDVKVTADMVKEALE
EAEKAQVAAEKAIKQADEDIQGTQNLLTSIESETAASEETLFNASQRISELERNVEELKRKAAQNSGEAEYIEKVVYTVKQSAEDVKKTLDGELDEKYKK
VENLIAKKTEESADARRKAEMLQNEAKTLLAQANSKLQLLKDLERKYEDNQRYLEDKAQELARLEGEVRSLLKDISQKVAVYSTCL


SNP Information

Context             (SEQ ID NO:2670):
TGGAAGGAGAAGTCCGTTCACTCCTAAAGGATATAAGCCAGAAAGTTGCTGTGTATAGCACATGCTTGTAACAGAGGAGAATAAAAAATGGCTGAGGTGA
M
CAAGGTAAAACAACTACATTTTAAAAACTGACTTAATGCTCTTCAAAATAAAACATCACCTATTTAATGTTTTTAATCACATTTTGTATGGAGTTAAATA
Celera SNP ID:            hCV8856543
SNP Position Transcript:  5726
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,11|C,23)   total(A,16|C,52)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:770, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   POOLE|_CEPH(C,77|A,111)   total(A,111|C,77) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:770, None   



Context             (SEQ ID NO:2671):
AGGCTCGCCTCCTTGATGAACTGGCAGGCAAGCTACAAAGCCTAGACCTTTCAGCCGCTGCCGAAATGACCTGTGGAACACCCCCAGGGGCCTCCTGTTC
Y
GAGACTGAATGTGGCGGGCCAAACTGCAGAACTGACGAAGGAGAGAGGAAGTGTGGGGGGCCTGGCTGTGGTGGTCTGGTTACTGTTGCACACAACGCCT
Celera SNP ID:            hCV25644702
SNP Position Transcript:  4556
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 1407, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:2672):
ACAGCTTGCCTGTGTTTGTGATCCTGGATACATTGGTTCCAGATGTGACGACTGTGCCTCAGGATACTTTGGCAATCCATCAGAAGTTGGGGGGTCGTGT
S
AGCCTTGCCAGTGTCACAACAACATTGACACGACAGACCCAGAAGCCTGTGACAAGGAGACTGGGAGGTGTCTCAAGTGCCTGTACCACACGGAAGGGGA
Celera SNP ID:            hCV25922169
SNP Position Transcript:  3255
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,38)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 974, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:2673):
GATAGTGCTGATTTGGACAGCATTGAAGCAGTTGCTAATGAAGTATTGAAAATGGAGATGCCTAGCACCCCACAGCAGTTACAGAACTTGACAGAAGATA
Y
ACGTGAACGAGTTGAAAGCCTTTCTCAAGTAGAGGTTATTCTTCAGCATAGTGCTGCTGACATTGCCAGAGCTGAGATGTTGTTAGAAGAAGCTAAAAGA
Celera SNP ID:            hCV25644704
SNP Position Transcript:  4975
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,37)   total(C,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1547, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:2674):
TTATGATATGGTGGTTCGAGGAAATTGCTTCTGCTATGGTCATGCCAGCGAATGTGCCCCTGTGGATGGATTCAATGAAGAAGTGGAAGGAATGGTTCAC
R
GACACTGCATGTGCAGGCATAACACCAAGGGCTTAAACTGTGAACTCTGCATGGATTTCTACCATGATTTACCTTGGAGACCTGCTGAAGGCCGAAACAG
Celera SNP ID:            hCV25644721
SNP Position Transcript:  1221
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 296, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:2675):
CTGCTGAAGGCCGAAACAGCAACGCCTGTAAAAAATGTAACTGCAATGAACATTCCATCTCTTGTCACTTTGACATGGCTGTTTACCTGGCCACGGGGAA
Y
GTCAGCGGAGGCGTGTGTGATGACTGTCAGCACAACACCATGGGGCGCAACTGTGAGCAGTGCAAGCCGTTTTACTACCAGCACCCAGAGAGGGACATCC
Celera SNP ID:            hCV25644722
SNP Position Transcript:  1403
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 356, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:2676):
AGGATCTGTCAATGCCTTCTGCAATCCCGTCACTGGCCAGTGCCACTGTTTCCAGGGAGTGTATGCTCGGCAGTGTGATCGGTGCTTACCTGGGCACTGG
R
GCTTTCCAAGTTGCCAGCCCTGCCAGTGCAATGGCCACGCCGATGACTGCGACCCAGTGACTGGGGAGTGCTTGAACTGCCAGGACTACACCATGGGTCA
Celera SNP ID:            hCV22274373
SNP Position Transcript:  2913
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,4|G,36)   total(A,4|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 860, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:2677):
CCTCCTTGATGAACTGGCAGGCAAGCTACAAAGCCTAGACCTTTCAGCCGCTGCCGAAATGACCTGTGGAACACCCCCAGGGGCCTCCTGTTCCGAGACT
K
AATGTGGCGGGCCAAACTGCAGAACTGACGAAGGAGAGAGGAAGTGTGGGGGGCCTGGCTGTGGTGGTCTGGTTACTGTTGCACACAACGCCTGGCAGAA
Celera SNP ID:            hCV27468475
SNP Position Transcript:  4563
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1410, (E,GAA)   (X,TAA)      



Context             (SEQ ID NO:2678):
TTGACATGGCTGTTTACCTGGCCACGGGGAACGTCAGCGGAGGCGTGTGTGATGACTGTCAGCACAACACCATGGGGCGCAACTGTGAGCAGTGCAAGCC
R
TTTTACTACCAGCACCCAGAGAGGGACATCCGAGATCCTAATTTCTGTGAACGATGTACGTGTGACCCAGCTGGCTCTCAAAATGAGGGAATTTGTGACA
Celera SNP ID:            hCV25644723
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(G,40)   total(A,4|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 379, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:2679):
ATTCCAACCAGCAGCCGATGTGGTAATACCATCCCCGATGATGACAACCAGGTGGTGTCATTATCACCAGGCTCAAGATATGTCGTCCTTCCTCGGCCGG
Y
GTGCTTTGAGAAGGGAACAAACTACACGGTGAGGTTGGAGCTGCCTCAGTACACCTCCTCTGATAGCGACGTGGAGAGCCCCTACACGCTGATCGATTCT
Celera SNP ID:            hCV11607694
SNP Position Transcript:  2344
SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 670, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:2680):
CTTTGACATGGCTGTTTACCTGGCCACGGGGAACGTCAGCGGAGGCGTGTGTGATGACTGTCAGCACAACACCATGGGGCGCAACTGTGAGCAGTGCAAG
Y
CGTTTTACTACCAGCACCCAGAGAGGGACATCCGAGATCCTAATTTCTGTGAACGATGTACGTGTGACCCAGCTGGCTCTCAAAATGAGGGAATTTGTGA
Celera SNP ID:            hCV22274722
SNP Position Transcript:  1470
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,40)   total(C,70|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 379, (P,CCG)   (S,TCG)   



Context             (SEQ ID NO:2681):
CGGAGGAAGCCAACTTGGGGCCTGGGGTTAGCATAGTGGAGCGGCAATATATCCAGGACCGGATTCCCTCCTGGACTGGAGCCGGCTTCGTCCGAGTGCC
K
GAAGGGGCTTATTTGGAGTTTTTCATTGACAACATACCATATTCCATGGAGTACGACATCCTAATTCGCTACGAGCCACAGCTACCCGACCACTGGGAAA
Celera SNP ID:            hCV22274480
SNP Position Transcript:  2111
SNP Source:               Applera
Population(Allele,Count): african american(G,13|T,25)   caucasian(G,10|T,30)   total(G,23|T,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 592, (P,CCG)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;JBIG-allele(G,374|T,1119)   total(T,1119|G,374)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 592, (P,CCG)   (P,CCT)      592, (P,CCT)   (P,CCG)      



Context             (SEQ ID NO:2682):
CGACAGTGGACGCCAGTTTGCCAGGAGCTGCTACCAAGATCCTGTTACTTTACAGCTTGCCTGTGTTTGTGATCCTGGATACATTGGTTCCAGATGTGAC
R
ACTGTGCCTCAGGATACTTTGGCAATCCATCAGAAGTTGGGGGGTCGTGTCAGCCTTGCCAGTGTCACAACAACATTGACACGACAGACCCAGAAGCCTG
Celera SNP ID:            hCV25921835
SNP Position Transcript:  3204
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 957, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:2683):
TTGGATACTATGGTGATGCCCTCCAGCAGGACTGTCGAAAGTGTGTCTGTAATTACCTGGGCACCGTGCAAGAGCACTGTAACGGCTCTGACTGCCAGTG
Y
GACAAAGCCACTGGTCAGTGCTTGTGTCTTCCTAATGTGATCGGGCAGAACTGTGACCGCTGTGCGCCCAATACCTGGCAGCTGGCCAGTGGCACTGGCT
Celera SNP ID:            hCV25644691
SNP Position Transcript:  3476
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,38)   total(C,72|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 1047, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:2684):
ACCTCTATGAAGCGGAGGAAGCCAACTTGGGGCCTGGGGTTAGCATAGTGGAGCGGCAATATATCCAGGACCGGATTCCCTCCTGGACTGGAGCCGGCTT
Y
GTCCGAGTGCCTGAAGGGGCTTATTTGGAGTTTTTCATTGACAACATACCATATTCCATGGAGTACGACATCCTAATTCGCTACGAGCCACAGCTACCCG
Celera SNP ID:            hCV25644683
SNP Position Transcript:  2099
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 588, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:2685):
CTTTGAGAAGGGAACAAACTACACGGTGAGGTTGGAGCTGCCTCAGTACACCTCCTCTGATAGCGACGTGGAGAGCCCCTACACGCTGATCGATTCTCTT
S
TTCTCATGCCATACTGTAAATCACTGGACATCTTCACCGTGGGAGGTTCAGGAGATGGGGTGGTCACCAACAGTGCCTGGGAAACCTTTCAGAGATACCG
Celera SNP ID:            hCV25644685
SNP Position Transcript:  2448
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,33)   caucasian(G,40)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 705, (L,CTT)   (V,GTT)   



Context             (SEQ ID NO:2686):
GCCTGTGACAAGGAGACTGGGAGGTGTCTCAAGTGCCTGTACCACACGGAAGGGGAACACTGTCAGTTCTGCCGGTTTGGATACTATGGTGATGCCCTCC
R
GCAGGACTGTCGAAAGTGTGTCTGTAATTACCTGGGCACCGTGCAAGAGCACTGTAACGGCTCTGACTGCCAGTGCGACAAAGCCACTGGTCAGTGCTTG
Celera SNP ID:            hCV2193705
SNP Position Transcript:  3400
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,27)   caucasian(A,10|G,16)   total(A,19|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1022, (Q,CAG)   (R,CGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,4)   total(G,2|A,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1022, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:2687):
ACCAGTGCCTGCCAGAGCACTGGGGCTTAAGCAATGATTTGGATGGATGTCGACCATGTGACTGTGACCTTGGGGGAGCCTTAAACAACAGTTGCTTTGC
R
GAGTCAGGCCAGTGCTCATGCCGGCCTCACATGATTGGACGTCAGTGCAACGAAGTGGAACCTGGTTACTACTTTGCCACCCTGGATCACTACCTCTATG
Celera SNP ID:            hCV25644679
SNP Position Transcript:  1907
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 524, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:2688):
ATTGTGATGTTTGCAAAGAAGGCTTCTATGATTTAAGCAGTGAAGATCCATTTGGTTGTAAATCTTGTGCTTGCAATCCTCTGGGAACAATTCCTGGAGG
R
AATCCTTGTGATTCCGAGACAGGTCACTGCTACTGCAAGCGTCTGGTGACAGGACAGCATTGTGACCAGTGCCTGCCAGAGCACTGGGGCTTAAGCAATG
Celera SNP ID:            hCV2193721
SNP Position Transcript:  1742
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,2|G,34)   total(A,6|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 469, (G,GGA)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 469, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:2689):
GTGACCCATGCAACTGCAATGCTGCTCATTCCTTCGGGCCATCTTGCAATGAGTTCACGGGGCAGTGCCAGTGCATGCCTGGGTTTGGAGGCCGCACCTG
Y
AGCGAGTGCCAGGAACTCTTCTGGGGAGACCCCGACGTGGAGTGCCGAGCCTGTGACTGTGACCCCAGGGGCATTGAGACGCCACAGTGTGACCAGTCCA
Celera SNP ID:            hCV11607702
SNP Position Transcript:  3677
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 1114, (C,TGC)   (C,TGT)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 1114, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:2690):
GGGACCTGGAAGCGCCCCAGCCCCGCAGCGATCGCAGA
Y
TCGGCTTTCAAACAAAAGAGGCGCCCCGGGGGGTGGGACCGGGACCTCACCCGGTCCTCGCAGAGTTGCGGCCGCCCGCCCCTTCAGCCCCGGCTCTCCG
Celera SNP ID:            hCV15868037
SNP Position Transcript:  39
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;JBIC-allele(C,310|T,777)   total(C,310|T,777)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:770, None   



Context             (SEQ ID NO:2691):
TATGGTAAAGGAAGCTCTGGAAGAAGCAGAAAAGGCCCAGGTCGCAGCAGAGAAGGCAATTAAACAAGCAGATGAAGACATTCAAGGAACCCAGAACCTG
Y
TAACTTCGATTGAGTCTGAAACAGCAGCTTCTGAGGAAACCTTGTTCAACGCGTCCCAGCGCATCAGCGAGTTAGAGAGGAATGTGGAAGAACTTAAGCG
Celera SNP ID:            hCV22275024
SNP Position Transcript:  5214
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,20)   caucasian(C,12|T,20)   total(C,28|T,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1627, (L,CTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)   JBIC-allele(C,459|T,634)   total(C,459|T,634) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:770, 1627, (L,CTA)   (L,TTA)      1627, (L,TTA)   (L,CTA)      



Context             (SEQ ID NO:2692):
TAACTATCCAACTGGATTTGGAAGCAGAATTCCATTTTACTCATCTCATAATGACTTTCAAGACATTCCGTCCAGCTGCTATGCTGATAGAACGATCGTC
Y
GACTTTGGGAAAACCTGGGGTGTGTATAGATACTTCGCCTATGACTGTGAGGCCTCGTTTCCAGGCATTTCAACTGGCCCCATGAAAAAAGTCGATGACA
Celera SNP ID:            hCV1091266
SNP Position Transcript:  797
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,37|T,3)   total(C,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 154, (S,TCC)   (S,TCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:770, 154, (S,TCC)   (S,TCT)      



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280909 - 79000075263100
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802321 - 197000064934962
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37198132)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:74):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGGGAAAGGGCTTGCCAGTTCTG
GACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTTGTTGTACCAAGCAGGGTTC
TCAGGTTGCCAATCACAGAAGCAGACCCTTAAAAGACCTTATTGGAATGATATGGGAAAGCTCACAGAATTTACAGAATCTGAGCCGGCAGGCCCCAGGA
AGAGCAGTTAGGGGACCTGAGTGTGCCACAGCTGTGGCTGTCTTCTTGCATCTGAAGACCTGCACAAAGTGCAATGAGCCCTTGGAAAGAATGGCTACAG
AGCGCTACTCCAGCCCACTTGCCCAAGCCCACCAGGCCGCAGGGTTTGGGGCAACCAGGGGTGGGGCAGCCCTGAACCGGAACAAGTGTCAATTCACATT
ACCCGCACTGGTCCTGGTTCGAAGAGCCTGGGCAGGAACCCTTGGCCCTAACGGCTCGCAATGGCGGAACAGGGAGCCAGGGGCATCGCCGCTTGGGGAA
CCTCACCCGCCGGCCCAGGGCTCAGCTCGCCGTGTGACAGCCCCGGGTACTTTGCCCAGCGGGGTGCAAGCCCGGACCGCGGCAAGCGCCACTCCCGGGC
AGTCGCGGCCACAACTGCTTCCGGGTGAGTGGGTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCC
GGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCC
GCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGAC
AGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGARAGGAGAGCTACCATCACTAAG
GGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGAC
CGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATAC
GCATGAGAGAACTGGAACGACAACAAAAAGAGTACTCTCTTCATTCCTTTGATCGGAAGTGGGGACAGATTCAGAAGTGGCTGGAAGATTCGGAAAGGGC
CAGGTATTCCCACCGGTCCAGTCACCATCGTCCTTATCTGGGAGTTGAGGATGCATTGTCCATTCGAAGTGTTGGCAGTCACAGGTATGATATGTTCAAG
GATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCATRAAGACCTACTGAGTGGCC
TCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGC
AACATRTAAGAGTGACAGGGCCTCTCCTAYTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTAT
GGTCCTCGAACTCCWTCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGT
CTTCTGATCGTGCCAGTCGTGGACGAAGGGAGAGTGTGGTATCTGCCGCTGATTATTTCAGTCGCTCCAATCGTAGGGGAAGTGTTGTCTCTGAGGTGGA
TGATATCAGTATCCCAGATTTGTCCAGCTTGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATACAAGACCTTCATCTCGAAATTCTGCCTCAGCA
ACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGGGATATCTATG
ACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAGRAATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGC
CATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGARGAACAGATGGCA
GAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAACTTAAAGAAGGCC
TGCGGCAAAGAGATGAGCTTATTGAGGAGAAGCAGCGCATGCAGCAGAAAATAGACACCATGACAAAAGAGGTGTTTGACCTCCAGGAGACACTTCTTTG
GAAAGATAAAAAAATTGGGGCCCTAGAGAAACAGAAAGAATACATTGCCTGCCTTAGGAATGAGCGAGATATGCTCAGAGAGGAGCTGGCTGACCTGCAG
GAGACAGTGAAGACGGGAGAGAAACATGGCTTAGTTATAATCCCCGATGGCACTCCCAATGGTGATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTG
TTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAGGAGAAGGGCCATTAGATGTAAGGCTACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTC
ACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACGACAGAAATGCTCCAGGAATGATGGCACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCA
GACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGACAAATTAGCGAATACAAATTTAAGCTTTCAAAAGCAGAACAGGATATAACTACCTTGGAGC
AAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATAAAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCT
ACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGAGATGGAGATGACCAACAGCCACCTGGCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACA
GCACTTCTGGCCCAGCAGTAGGAAAACCACCCTTCAACCTGGGTGATGCTCCTTGGGGCCCTACCTAGAGGGACTGACTTTTGTCCATTGACACAAACCC
CTTTTAGTACTGTTTTGAGTTTTGTCATTAAAACAGCCACCTTTGTATTTTATAATTTATGACAGAATGAAGTCATTTTGAATCTACATGAATGAACACT
TTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAACRTTTTTCC
CCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCT
CAGAAAACACAAGTGCCTTCTCCACGGTGCAATTCAGACTTCAGTGATCTCCAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATATTTT
AGTGAAGAAACAAGTTCTCGGGTGGGGAATCTATGTTTCACTCAGATTTATATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATA
AGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGG
TCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGT
AGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCTRTTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGA
GACTTTAAAACAAATCATGGCAACCACATCCCTCTTCR

Protein Sequence    (SEQ ID NO:771):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEYSLHSFDRKWGQIQKWLEDSERARYSHRSSHHRPYLGVEDA
LSIRSVGSHRYDMFKDRSSRLSSLNHSYSHSHGMKKRSSDSHKDLLSGLYFDQRNYSSLRHSKPTSAYYTRQSSSLYSDPLATYKSDRASPTANSGLLRS
ASLASLYNGGLYNPYGPRTPSECSYYSSRISSARSSPGFTNDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQV
DTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELIEEKQRMQQKIDTMTKEVFDLQETLLWKDKKIGALEKQKEYIACL
RNERDMLREELADLQETVKTGEKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTN
SHLAKRLEKMKANRTALLAQQ


SNP Information

Context             (SEQ ID NO:2693):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  3984
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2694):
CAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCAT
R
AAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCT
Celera SNP ID:            hCV25928037
SNP Position Transcript:  1582
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:771, 143, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2695):
AGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  1079
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2696):
TGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAAC
R
TTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTG
Celera SNP ID:            hCV7535083
SNP Position Transcript:  3593
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,14|G,14)   total(A,32|G,24)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:771, None

SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2697):
TCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  2263
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2698):
TTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACAT
R
TAAGAGTGACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCT
Celera SNP ID:            hCV25929384
SNP Position Transcript:  1706
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:771, 184, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:2699):
ACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCC
W
TCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCA
Celera SNP ID:            hCV29123875
SNP Position Transcript:  1815
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:771, 220, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2700):
TCTATTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTC
R

Celera SNP ID:            hCV29124008
SNP Position Transcript:  4238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2701):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGG
G
AAAGGGCTTGCCAGTTCTGGACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTT
Celera SNP ID:            hCV26449734
SNP Position Transcript:  81
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,14)   total(G,14|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2702):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  2388
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:771, 411, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2703):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  4141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:771, None   



Context             (SEQ ID NO:2704):
CTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATATAAGAGTGACAGGGCCTCTCCTA
Y
TGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCATCTGAATGCAGTTAT
Celera SNP ID:            hCV25928810
SNP Position Transcript:  1730
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:771, 192, (T,ACT)   (I,ATT)   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT1964527 - 79000075263028
Public Transcript Accession: NM_006309
Celera Protein:              hCP1779260 - 197000064934964
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37149625)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:75):
ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTT
AAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAAC
ATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGT
ACTCTCTTCATTCCTTTGATCGGAAGTGGGGACAGATTCAGAAGTGGCTGGAAGATTCGGAAAGGGCCAGGTATTCCCACCGGTCCAGTCACCATCGTCC
TTATCTGGGAGTTGAGGATGCATTGTCCATTCGAAGTGTTGGCAGTCACAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCAT
TCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCATRAAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTA
GACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATRTAAGAGTGACAGGGCCTCTCCTAYTGC
AAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCWTCTGAATGCAGTTATTAT
TCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCAGTCGTGGACGAAGGGAGA
GTGTGGTATCTGCCGCTGATTATTTCAGTCGCTCCAATCGTAGGGGAAGTGTTGTCTCTGAGGTGGATGATATCAGTATCCCAGATTTGTCCAGCTTGGA
TGAAAAATCTGACAAACAGTATGCTGAAAATTATACAAGACCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGA
GGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGA
GATACATGCAGGGGCTTAAAGAACTAAAGRAATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAA
GAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAG
GAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGGAGAAGC
AGCGCATGCAGCAGAAAATAGACACCATGACAAAAGAGGTGTTTGACCTCCAGGAGACACTTCTTTGGAAAGATAAAAAAATTGGGGCCCTAGAGAAACA
GAAAGAATACATTGCCTGCCTTAGGAATGAGCGAGATATGCTCAGAGAGGAGCTGGCTGACCTGCAGGAGACAGTGAAGACGGGAGAGAAACATGGCTTA
GTTATAATCCCCGATGGCACTCCCAATGGTGATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGT
CAGCAGGAGAAGGGCCATTAGATGTAAGGCTACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGA
GGAACGACAGAAATGCTCCAGGAATGATGGCACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCC
AATAGACAAATTAGCGAATACAAATTTAAGCTTTCAAAAGCAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGA
GATATAAAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGAT
TGAGGAGATGGAGATGACCAACAGCCACCTGGCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCAGTAGGAAAACCACCCT
TCAACCTGGGTGATGCTCCTTGGGGCCCTACCTAGAGGGACTGACTTTTGTCCATTGACACAAACCCCTTTTAGTACTGTTTTGAGTTTTGTCATTAAAA
CAGCCACCTTTGTATTTTATAATTTATGACAGAATGAAGTCATTTTGAATCTACATGAATGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGA
ACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAACRTTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCC
TTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCCACGGTGCAAT
TCAGACTTCAGTGATCTCCAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGTGGGGAATCTA
TGTTTCACTCAGATTTATATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTAT
ATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACC
TTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGC
AGATTCTRTTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCT
CTTCT

Protein Sequence    (SEQ ID NO:772):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEYSLHSFDRKWGQIQKWLEDSERARYSHRSSHHRPYLGVEDA
LSIRSVGSHRYDMFKDRSSRLSSLNHSYSHSHGMKKRSSDSHKDLLSGLYFDQRNYSSLRHSKPTSAYYTRQSSSLYSDPLATYKSDRASPTANSGLLRS
ASLASLYNGGLYNPYGPRTPSECSYYSSRISSARSSPGFTNDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQV
DTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELIEEKQRMQQKIDTMTKEVFDLQETLLWKDKKIGALEKQKEYIACL
RNERDMLREELADLQETVKTGEKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTN
SHLAKRLEKMKANRTALLAQQ


SNP Information

Context             (SEQ ID NO:2705):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  2951
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:772, None   



Context             (SEQ ID NO:2706):
CAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCAT
R
AAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCT
Celera SNP ID:            hCV25928037
SNP Position Transcript:  549
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:772, 143, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2707):
ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  46
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:772, None   



Context             (SEQ ID NO:2708):
TGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAAC
R
TTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTG
Celera SNP ID:            hCV7535083
SNP Position Transcript:  2560
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,14|G,14)   total(A,32|G,24)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:772, None

SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:772, None   



Context             (SEQ ID NO:2709):
TCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  1230
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:772, None   



Context             (SEQ ID NO:2710):
TTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACAT
R
TAAGAGTGACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCT
Celera SNP ID:            hCV25929384
SNP Position Transcript:  673
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:772, 184, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:2711):
ACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCC
W
TCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCA
Celera SNP ID:            hCV29123875
SNP Position Transcript:  782
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:772, 220, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2712):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  1355
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:772, 411, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2713):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  3108
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:772, None   



Context             (SEQ ID NO:2714):
CTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATATAAGAGTGACAGGGCCTCTCCTA
Y
TGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCATCTGAATGCAGTTAT
Celera SNP ID:            hCV25928810
SNP Position Transcript:  697
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:772, 192, (T,ACT)   (I,ATT)   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT8186 - 79000075263060
Public Transcript Accession: NM_006309
Celera Protein:              hCP34486 - 197000064934965
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37149625)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:76):
ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTT
AAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAAC
ATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGT
TGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATACAAGACCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAG
ACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGGRAATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCC
ATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGARGAACAGATGGCAG
AATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAACTTAAAGAAGGCCT
GCGGCAAAGAGATGAGCTTATTGAGAAACATGGCTTAGTTATAATCCCCGATGGCACTCCCAATGGTGATGTCAGTCATGAACCAGTGGCTGGAGCCATC
ACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAGGAGAAGGGCCATTAGATGTAAGGCTACGAAAACTTGCTGGAGAGAAGGAAGAACTAC
TGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACGACAGAAATGCTCCAGGAATGATGGCACAGTGGGTGACCTGGCAGGACTGCAGAATGG
CTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGACAAATTAGCGAATACAAATTTAAGCTTTCAAAAGCAGAACAGGATATAACTACCTTG
GAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATAAAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGATGAATTGAAAGCAGAAAAACGGA
AGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGAGATGGAGATGACCAACAGCCACCTGGCCAAGCGGCTGGAGAAGATGAAGGCCAATAG
GACAGCACTTCTGGCCCAGCAGTAGGAAAACCACCCTTCAACCTGGGTGATGCTCCTTGGGGCCCTACCTAGAGGGACTGACTTTTGTCCATTGACACAA
ACCCCTTTTAGTACTGTTTTGAGTTTTGTCATTAAAACAGCCACCTTTGTATTTTATAATTTATGACAGAATGAAGTCATTTTGAATCTACATGAATGAA
CACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAACRTTT
TTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAG
ACCTCAGAAAACACAAGTGCCTTCTCCACGGTGCAATTCAGACTTCAGTGATCTCCAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATA
TTTTAGTGAAGAAACAAGTTCTCGGGTGGGGAATCTATGTTTCACTCAGATTTATATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTA
TATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGT
TGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGA
GGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCTRTTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTAT
AGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT

Protein Sequence    (SEQ ID NO:773):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKELDEKSDKQYAENYTRPSSRNSASATTPLSGNSSRRGSGDTS
SLIDPDTSLSELRESLSEVEEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELI
EKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSRNDGTVGDLAGLQNGSDLQFIE
MQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTNSHLAKRLEKMKANRTALLAQQ


SNP Information

Context             (SEQ ID NO:2715):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  1988
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:773, None   



Context             (SEQ ID NO:2716):
ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  46
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:773, None   



Context             (SEQ ID NO:2717):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:773, 155, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2718):
TGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAAC
R
TTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTG
Celera SNP ID:            hCV7535083
SNP Position Transcript:  1597
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,14|G,14)   total(A,32|G,24)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:773, None

SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:773, None   



Context             (SEQ ID NO:2719):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  2145
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:773, None   



Context             (SEQ ID NO:2720):
TGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  462
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:773, None   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280906 - 79000075263158
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802327 - 197000064934968
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37151339)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:77):
TCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGC
CGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGG
CGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCA
GTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCT
GGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGG
CTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGTTGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATAC
AAGACCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGAC
ACTTCATTAAGTGAATTGCGGRAATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATT
TGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGA
AAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGAAACATGGCTTAGTT
ATAATCCCCGATGGCACTCCCAATGGTGATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAG
CAGGAGAAGGGCCATTAGATGTAAGGCTACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGA
ACGACAGAAATGCTCCAGGAATGATGGCACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAAT
AGACAAATTAGCGAATACAAATTTAAGCTTTCAAAAGCAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGAT
ATAAAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGA
GGAGATGGAGATGACCAACAGCCACCTGGCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCACTGCCTCAGTAACTGGGCA
CTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCC
ACGGTGCAATTCAGACTTCAGTGATCTCCAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGT
GGGGAATCTATGTTTCACTCAGATTTATATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATG
GGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACT
GTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAA
ATCTGCCTGCAGATTCTRTTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAA
CCACATCCCTCTTCR

Protein Sequence    (SEQ ID NO:774):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKELDEKSDKQYAENYTRPSSRNSASATTPLSGNSSRRGSGDTS
SLIDPDTSLSELRESLSEVEEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELI
EKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSRNDGTVGDLAGLQNGSDLQFIE
MQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTNSHLAKRLEKMKANRTALLAQH
CLSNWALGGLGTGSGGQTAIL


SNP Information

Context             (SEQ ID NO:2721):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  1961
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:774, None   



Context             (SEQ ID NO:2722):
AGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  306
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:774, None   



Context             (SEQ ID NO:2723):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  847
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:774, 155, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2724):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  2118
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:774, None   



Context             (SEQ ID NO:2725):
TGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  722
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:774, None   



Context             (SEQ ID NO:2726):
TCTATTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTC
R

Celera SNP ID:            hCV29124008
SNP Position Transcript:  2215
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:774, None   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280908 - 79000075263077
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802325 - 197000064934966
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37198132)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:78):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGGGAAAGGGCTTGCCAGTTCTG
GACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTTGTTGTACCAAGCAGGGTTC
TCAGGTTGCCAATCACAGAAGCAGACCCTTAAAAGACCTTATTGGAATGATATGGGAAAGCTCACAGAATTTACAGAATCTGAGCCGGCAGGCCCCAGGA
AGAGCAGTTAGGGGACCTGAGTGTGCCACAGCTGTGGCTGTCTTCTTGCATCTGAAGACCTGCACAAAGTGCAATGAGCCCTTGGAAAGAATGGCTACAG
AGCGCTACTCCAGCCCACTTGCCCAAGCCCACCAGGCCGCAGGGTTTGGGGCAACCAGGGGTGGGGCAGCCCTGAACCGGAACAAGTGTCAATTCACATT
ACCCGCACTGGTCCTGGTTCGAAGAGCCTGGGCAGGAACCCTTGGCCCTAACGGCTCGCAATGGCGGAACAGGGAGCCAGGGGCATCGCCGCTTGGGGAA
CCTCACCCGCCGGCCCAGGGCTCAGCTCGCCGTGTGACAGCCCCGGGTACTTTGCCCAGCGGGGTGCAAGCCCGGACCGCGGCAAGCGCCACTCCCGGGC
AGTCGCGGCCACAACTGCTTCCGGGTGAGTGGGTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCC
GGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCC
GCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGAC
AGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGARAGGAGAGCTACCATCACTAAG
GGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGAC
CGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATAC
GCATGAGAGAACTGGAACGACAACAAAAAGAGTTGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATACAAGACCTTCATCTCGAAATTCTGCCTC
AGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGGRAATCT
TTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGG
ATGTTATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCT
GCAGCATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGAAACATGGCTTAGTTATAATCCCCGATGGCACTCCCAATGGT
GATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAGGAGAAGGGCCATTAGATGTAAGGC
TACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACGACAGAAATGCTCCAGGAATGATGG
CACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGACAAATTAGCGAATACAAATTTAAG
CTTTCAAAAGCAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATAAAACTGCTGCTGAGAATGCTGAGA
AAGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGAGATGGAGATGACCAACAGCCACCT
GGCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCAGTAGGAAAACCACCCTTCAACCTGGGTGATGCTCCTTGGGGCCCTA
CCTAGAGGGACTGACTTTTGTCCATTGACACAAACCCCTTTTAGTACTGTTTTGAGTTTTGTCATTAAAACAGCCACCTTTGTATTTTATAATTTATGAC
AGAATGAAGTCATTTTGAATCTACATGAATGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCT
CCGTAATTGTAGAATCATGTTTACTCAACRTTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAA
TTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCCACGGTGCAATTCAGACTTCAGTGATCTCCAGTGGTCAAAA
GACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGTGGGGAATCTATGTTTCACTCAGATTTATATGTTTGGAGGA
AAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGG
GAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTG
TGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCTRTTAAATACACCCTTTTGCCAAC
CACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCR

Protein Sequence    (SEQ ID NO:775):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKELDEKSDKQYAENYTRPSSRNSASATTPLSGNSSRRGSGDTS
SLIDPDTSLSELRESLSEVEEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELI
EKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSRNDGTVGDLAGLQNGSDLQFIE
MQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTNSHLAKRLEKMKANRTALLAQQ


SNP Information

Context             (SEQ ID NO:2727):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  3021
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2728):
AGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  1079
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2729):
TGAACACTTTGGATTTTGTTGTAGTTTGATTCTAGGGTAGAACCAGTCCATGCTGTTTTTATTTTTTATCTCCGTAATTGTAGAATCATGTTTACTCAAC
R
TTTTTCCCCAGCTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTG
Celera SNP ID:            hCV7535083
SNP Position Transcript:  2630
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,14|G,14)   total(A,32|G,24)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:775, None

SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2730):
TGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  1495
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2731):
TCTATTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTC
R

Celera SNP ID:            hCV29124008
SNP Position Transcript:  3275
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2732):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGG
G
AAAGGGCTTGCCAGTTCTGGACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTT
Celera SNP ID:            hCV26449734
SNP Position Transcript:  81
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,14)   total(G,14|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:775, None   



Context             (SEQ ID NO:2733):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  1620
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:775, 155, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2734):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  3178
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:775, None   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280904 - 79000075263216
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802329 - 197000064934970
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37151339)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:79):
TCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGC
CGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGG
CGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCA
GTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCT
GGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGG
CTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGTACTCTCTTCATTCCTTTGATCGGAAGTGGGGACAGATTCA
GAAGTGGCTGGAAGATTCGGAAAGGGCCAGGTATTCCCACCGGTCCAGTCACCATCGTCCTTATCTGGGAGTTGAGGATGCATTGTCCATTCGAAGTGTT
GGCAGTCACAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTG
ATTCTCATRAAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTC
TTCTTCCCTGTACAGTGACCCTCTGGCAACATRTAAGAGTGACAGGGCCTCTCCTAYTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTG
TACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCWTCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTA
CCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCAGTCGTGGACGAAGGGAGAGTGTGGTATCTGCCGCTGATTATTTCAGTCGCTCCAATCG
TAGGGGAAGTGTTGTCTCTGAGGTGGATGATATCAGTATCCCAGATTTGTCCAGCTTGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATACAAGA
CCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGACACTT
CATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAGRAATCTTTGTC
TGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTT
ATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGC
ATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGGAGAAGCAGCGCATGCAGCAGAAAATAGACACCATGACAAAAGAGGT
GTTTGACCTCCAGGAGACACTTCTTTGGAAAGATAAAAAAATTGGGGCCCTAGAGAAACAGAAAGAATACATTGCCTGCCTTAGGAATGAGCGAGATATG
CTCAGAGAGGAGCTGGCTGACCTGCAGGAGACAGTGAAGACGGGAGAGAAACATGGCTTAGTTATAATCCCCGATGGCACTCCCAATGGTGATGTCAGTC
ATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAGGAGAAGGGCCATTAGATGTAAGGCTACGAAAACT
TGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACGACAGAAATGCTCCAGGAATGATGGCACAGTGGGT
GACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGACAAATTAGCGAATACAAATTTAAGCTTTCAAAAG
CAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATAAAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGA
TGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGAGATGGAGATGACCAACAGCCACCTGGCCAAGCGG
CTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCACTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAGGACAGACAG
CAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCCACGGTGCAATTCAGACTTCAGTGATCTCCAGTGGTCA
AAAGACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGTGGGGAATCTATGTTTCACTCAGATTTATATGTTTGGA
GGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCA
GGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTAT
TTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCTRTTAAATACACCCTTTTGCC
AACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCR

Protein Sequence    (SEQ ID NO:776):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEYSLHSFDRKWGQIQKWLEDSERARYSHRSSHHRPYLGVEDA
LSIRSVGSHRYDMFKDRSSRLSSLNHSYSHSHGMKKRSSDSHKDLLSGLYFDQRNYSSLRHSKPTSAYYTRQSSSLYSDPLATYKSDRASPTANSGLLRS
ASLASLYNGGLYNPYGPRTPSECSYYSSRISSARSSPGFTNDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQV
DTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELIEEKQRMQQKIDTMTKEVFDLQETLLWKDKKIGALEKQKEYIACL
RNERDMLREELADLQETVKTGEKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTN
SHLAKRLEKMKANRTALLAQHCLSNWALGGLGTGSGGQTAIL


SNP Information

Context             (SEQ ID NO:2735):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  2924
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:776, None   



Context             (SEQ ID NO:2736):
CAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCAT
R
AAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCT
Celera SNP ID:            hCV25928037
SNP Position Transcript:  809
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:776, 143, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2737):
AGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  306
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:776, None   



Context             (SEQ ID NO:2738):
TCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  1490
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:776, None   



Context             (SEQ ID NO:2739):
TTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACAT
R
TAAGAGTGACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCT
Celera SNP ID:            hCV25929384
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:776, 184, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:2740):
ACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCC
W
TCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCA
Celera SNP ID:            hCV29123875
SNP Position Transcript:  1042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:776, 220, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2741):
TCTATTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTC
R

Celera SNP ID:            hCV29124008
SNP Position Transcript:  3178
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:776, None   



Context             (SEQ ID NO:2742):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  1615
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:776, 411, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2743):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  3081
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:776, None   



Context             (SEQ ID NO:2744):
CTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATATAAGAGTGACAGGGCCTCTCCTA
Y
TGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCATCTGAATGCAGTTAT
Celera SNP ID:            hCV25928810
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:776, 192, (T,ACT)   (I,ATT)   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280907 - 79000075263177
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802328 - 197000064934969
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37198132)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:80):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGGGAAAGGGCTTGCCAGTTCTG
GACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTTGTTGTACCAAGCAGGGTTC
TCAGGTTGCCAATCACAGAAGCAGACCCTTAAAAGACCTTATTGGAATGATATGGGAAAGCTCACAGAATTTACAGAATCTGAGCCGGCAGGCCCCAGGA
AGAGCAGTTAGGGGACCTGAGTGTGCCACAGCTGTGGCTGTCTTCTTGCATCTGAAGACCTGCACAAAGTGCAATGAGCCCTTGGAAAGAATGGCTACAG
AGCGCTACTCCAGCCCACTTGCCCAAGCCCACCAGGCCGCAGGGTTTGGGGCAACCAGGGGTGGGGCAGCCCTGAACCGGAACAAGTGTCAATTCACATT
ACCCGCACTGGTCCTGGTTCGAAGAGCCTGGGCAGGAACCCTTGGCCCTAACGGCTCGCAATGGCGGAACAGGGAGCCAGGGGCATCGCCGCTTGGGGAA
CCTCACCCGCCGGCCCAGGGCTCAGCTCGCCGTGTGACAGCCCCGGGTACTTTGCCCAGCGGGGTGCAAGCCCGGACCGCGGCAAGCGCCACTCCCGGGC
AGTCGCGGCCACAACTGCTTCCGGGTGAGTGGGTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCC
GGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCC
GCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGAG
GAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGA
CTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCC
AGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGTACTCTC
TTCATTCCTTTGATCGGAAGTGGGGACAGATTCAGAAGTGGCTGGAAGATTCGGAAAGGGCCAGGTATTCCCACCGGTCCAGTCACCATCGTCCTTATCT
GGGAGTTGAGGATGCATTGTCCATTCGAAGTGTTGGCAGTCACAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTAC
AGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCATRAAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATA
GCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATRTAAGAGTGACAGGGCCTCTCCTAYTGCAAATTC
TGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCWTCTGAATGCAGTTATTATTCATCA
AGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCAGTCGTGGACGAAGGGAGAGTGTGG
TATCTGCCGCTGATTATTTCAGTCGCTCCAATCGTAGGGGAAGTGTTGTCTCTGAGGTGGATGATATCAGTATCCCAGATTTGTCCAGCTTGGATGAAAA
ATCTGACAAACAGTATGCTGAAAATTATACAAGACCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGT
GGGGACACCAGCAGCTTAATAGATCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACA
TGCAGGGGCTTAAAGAACTAAAGRAATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAA
TTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTA
GAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGGAGAAGCAGCGCA
TGCAGCAGAAAATAGACACCATGACAAAAGAGGTGTTTGACCTCCAGGAGACACTTCTTTGGAAAGATAAAAAAATTGGGGCCCTAGAGAAACAGAAAGA
ATACATTGCCTGCCTTAGGAATGAGCGAGATATGCTCAGAGAGGAGCTGGCTGACCTGCAGGAGACAGTGAAGACGGGAGAGAAACATGGCTTAGTTATA
ATCCCCGATGGCACTCCCAATGGTGATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAG
GAGAAGGGCCATTAGATGTAAGGCTACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACG
ACAGAAATGCTCCAGGAATGATGGCACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGA
CAAATTAGCGAATACAAATTTAAGCTTTCAAAAGCAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATA
AAACTGCTGCTGAGAATGCTGAGAAAGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGA
GATGGAGATGACCAACAGCCACCTGGCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCACTGCCTCAGTAACTGGGCACTC
GGAGGCCTTGGCACGGGTTCTGGAGGACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCCACG
GTGCAATTCAGACTTCAGTGATCTCCAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGTGGG
GAATCTATGTTTCACTCAGATTTATATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGG
AGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTG
CTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATC
TGCCTGCAGATTCTRTTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCA
CATCCCTCTTCT

Protein Sequence    (SEQ ID NO:777):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEYSLHSFDRKWGQIQKWLEDSERARYSHRSSHHRPYLGVEDA
LSIRSVGSHRYDMFKDRSSRLSSLNHSYSHSHGMKKRSSDSHKDLLSGLYFDQRNYSSLRHSKPTSAYYTRQSSSLYSDPLATYKSDRASPTANSGLLRS
ASLASLYNGGLYNPYGPRTPSECSYYSSRISSARSSPGFTNDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQV
DTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELIEEKQRMQQKIDTMTKEVFDLQETLLWKDKKIGALEKQKEYIACL
RNERDMLREELADLQETVKTGEKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTN
SHLAKRLEKMKANRTALLAQHCLSNWALGGLGTGSGGQTAIL


SNP Information

Context             (SEQ ID NO:2745):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  3658
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:777, None   



Context             (SEQ ID NO:2746):
CAGGTATGATATGTTCAAGGATAGATCATCAAGACTTTCATCATTAAATCATTCTTACAGTCACTCTCATGGAATGAAGAAGAGGTCTTCTGATTCTCAT
R
AAGACCTACTGAGTGGCCTCTACTTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCT
Celera SNP ID:            hCV25928037
SNP Position Transcript:  1543
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:777, 143, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:2747):
CCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGAGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  1040
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:777, None   



Context             (SEQ ID NO:2748):
TCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  2224
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:777, None   



Context             (SEQ ID NO:2749):
TTTGACCAGAGAAACTATAGCAGTCTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACAT
R
TAAGAGTGACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCT
Celera SNP ID:            hCV25929384
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:777, 184, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:2750):
ACAGGGCCTCTCCTACTGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCC
W
TCTGAATGCAGTTATTATTCATCAAGAATAAGTTCAGCCCGAAGCAGTCCAGGGTTTACCAACGATGACACTGCAAGCATTGTGTCTTCTGATCGTGCCA
Celera SNP ID:            hCV29123875
SNP Position Transcript:  1776
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:777, 220, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:2751):
ATGGCTATGAAATCTGAGGACTTCCCTCCAGACAAGAAGGGACTGAGGGAAGTCCTGATCAAAGGACTGAGAAGGAAGGG
G
AAAGGGCTTGCCAGTTCTGGACAAGGCCAGCAGAGAGAAACATGCTTGCAGGACTACTCAGAATGGTGGCTTCTTCTGCTAATGGAGGCCTGGAACCCTT
Celera SNP ID:            hCV26449734
SNP Position Transcript:  81
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,14)   total(G,14|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:777, None   



Context             (SEQ ID NO:2752):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  2349
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:777, 411, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2753):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  3815
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:777, None   



Context             (SEQ ID NO:2754):
CTTAGACATAGCAAACCCACCTCTGCCTACTACACTCGGCAGTCTTCTTCCCTGTACAGTGACCCTCTGGCAACATATAAGAGTGACAGGGCCTCTCCTA
Y
TGCAAATTCTGGTCTGCTGAGAAGTGCCAGTCTGGCATCATTGTACAATGGTGGATTATATAACCCTTATGGTCCTCGAACTCCATCTGAATGCAGTTAT
Celera SNP ID:            hCV25928810
SNP Position Transcript:  1691
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:777, 192, (T,ACT)   (I,ATT)   



Gene Number:                 38
Celera Gene:                 hCG17138 - 79000075263027
Celera Transcript:           hCT2280910 - 79000075263138
Public Transcript Accession: NM_006309
Celera Protein:              hCP1802326 - 197000064934967
Public Protein Accession:    NP_006300
Gene Symbol:                 LRRFIP2
Protein Name:                leucine rich repeat (in FLII) interacting protein 2;FLJ20248;HUFI-2
Celera Genomic Axis:         GA_x5YUV32VV34(37037189..37151339)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:81):
TCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGC
CGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGG
CGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCA
GTGGARAGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCT
GGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAGGCAGAGGCAAGGCTGGCAGCAAAACGGG
CTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGTTGGATGAAAAATCTGACAAACAGTATGCTGAAAATTATAC
AAGACCTTCATCTCGAAATTCTGCCTCAGCAACAACCCCTCTAAGTGGAAACTCATCCAGACGAGGAAGTGGGGACACCAGCAGCTTAATAGATCCAGAC
ACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAGRAATCTT
TGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGA
TGTTATTGAAGAGCAGGARGAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTG
CAGCATAAGATGGAAGAACTTAAAGAAGGCCTGCGGCAAAGAGATGAGCTTATTGAGAAACATGGCTTAGTTATAATCCCCGATGGCACTCCCAATGGTG
ATGTCAGTCATGAACCAGTGGCTGGAGCCATCACTGTTGTGTCTCAGGAAGCTGCTCAGGTCTTGGAGTCAGCAGGAGAAGGGCCATTAGATGTAAGGCT
ACGAAAACTTGCTGGAGAGAAGGAAGAACTACTGTCACAGATTAGAAAACTGAAGCTTCAGTTAGAGGAGGAACGACAGAAATGCTCCAGGAATGATGGC
ACAGTGGGTGACCTGGCAGGACTGCAGAATGGCTCAGACTTGCAGTTCATCGAAATGCAGAGAGATGCCAATAGACAAATTAGCGAATACAAATTTAAGC
TTTCAAAAGCAGAACAGGATATAACTACCTTGGAGCAAAGTATTAGCCGGCTTGAGGGACAGGTTCTGAGATATAAAACTGCTGCTGAGAATGCTGAGAA
AGTTGAAGATGAATTGAAAGCAGAAAAACGGAAGCTACAACGAGAGTTACGAACAGCACTGGACAAGATTGAGGAGATGGAGATGACCAACAGCCACCTG
GCCAAGCGGCTGGAGAAGATGAAGGCCAATAGGACAGCACTTCTGGCCCAGCACTGCCTCAGTAACTGGGCACTCGGAGGCCTTGGCACGGGTTCTGGAG
GACAGACAGCAATTCTATGAGTGCTCACTGAGATACTTGCTGGAGACCTCAGAAAACACAAGTGCCTTCTCCACGGTGCAATTCAGACTTCAGTGATCTC
CAGTGGTCAAAAGACATTTACCCTTAATATCAGACAACATTTATATTTTAGTGAAGAAACAAGTTCTCGGGTGGGGAATCTATGTTTCACTCAGATTTAT
ATGTTTGGAGGAAAAAAGCCTTTTTTTGTAAAATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTG
CATGGGGCAGGGGAAGTCCAGGCCTAATACTCYTAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCT
GCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCTRTTAAATACAC
CCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCR

Protein Sequence    (SEQ ID NO:778):
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKELDEKSDKQYAENYTRPSSRNSASATTPLSGNSSRRGSGDTS
SLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRENEEKSKELERQK
HMCSVLQHKMEELKEGLRQRDELIEKHGLVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQK
CSRNDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEME
MTNSHLAKRLEKMKANRTALLAQHCLSNWALGGLGTGSGGQTAIL


SNP Information

Context             (SEQ ID NO:2755):
ATATTTAAATTTATATAAGAAAATGTTAGAAAAAAATATGGGGAGTGTATATAAAACTTGCTTTATTGCATGGGGCAGGGGAAGTCCAGGCCTAATACTC
Y
TAAAGTAAGAGTTGGGTCCTTTTTTTCTTCAATACAACTGTGCTGTACCTTGTAAAGTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAA
Celera SNP ID:            hCV8256053
SNP Position Transcript:  2033
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,10)      total(C,10|T,2) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(C,85|T,103)   total(C,85|T,103)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:778, None   



Context             (SEQ ID NO:2756):
AGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAGATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGA
R
AGGAGAGCTACCATCACTAAGGGCTGAAAACACAGTTAAATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGG
Celera SNP ID:            hCV7534943
SNP Position Transcript:  306
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:778, None   



Context             (SEQ ID NO:2757):
AATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACTCAAGGATGTTATTGAAGAGCAGGA
R
GAACAGATGGCAGAATTTTATAGAGAAAATGAAGAAAAATCAAAGGAGTTAGAAAGGCAGAAACATATGTGTAGTGTGCTGCAGCATAAGATGGAAGAAC
Celera SNP ID:            hCV25925504
SNP Position Transcript:  919
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:778, 179, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:2758):
GTATTTTATCTGCTGCTTATTTGTGGAATGAAACCTCAAACAAACCCAAAGGGGGAGGGTAGGGCAGGGCAGGCAGATTGGAAATCTGCCTGCAGATTCT
R
TTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTCT
Celera SNP ID:            hCV27479714
SNP Position Transcript:  2190
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:778, None   



Context             (SEQ ID NO:2759):
TCCAGACACTTCATTAAGTGAATTGCGGGATATCTATGACCTTAAGGACCAGATACAGGATGTAGAAGGGAGATACATGCAGGGGCTTAAAGAACTAAAG
R
AATCTTTGTCTGAAGTGGAAGAAAAATACAAGAAAGCCATGGTTTCCAATGCACAGTTAGACAATGAGAAGAACAATTTGATCTACCAAGTAGACACACT
Celera SNP ID:            hCV7534678
SNP Position Transcript:  794
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:778, None   



Context             (SEQ ID NO:2760):
TCTATTAAATACACCCTTTTGCCAACCACAATTGGCTACTGACATGTTCATTTTGTTATAGGAGACTTTAAAACAAATCATGGCAACCACATCCCTCTTC
R

Celera SNP ID:            hCV29124008
SNP Position Transcript:  2287
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:778, None   



Gene Number:                 39
Celera Gene:                 hCG17177 - 63000132525541
Celera Transcript:           hCT1966082 - 63000132525626
Public Transcript Accession: NM_004632
Celera Protein:              hCP1780185 - 197000069372660
Public Protein Accession:    NP_004623
Gene Symbol:                 DAP3
Protein Name:                death associated protein 3;DAP-3;MRP-S29;MRPS29;bMRP-10
Celera Genomic Axis:         GA_x5YUV32VSLS(5695971..5746863)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:82):
CTGCTCTCYCAGAGRTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAA
TCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGTRCAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCG
CGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAGKCTGGAGAACT
AGTCCTCGACTCACGTGCAAGGATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAGGCCAAGCATGGGGATCAGCACGAGGGTCAGCAC
TACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGCYTTCCTCCTCGCTTTGTGATGCAGGTGAAGACATTCAGTGAAGCTTGCCTGATGG
TAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAGTTTTGCTTATCCAGCTATACGATATCTTCTGTATGGAGAGAAGGGAACAGGAAA
AACCCTAAGTCTTTGCCATGTTATTCATTTCTGTGCAAAACAGGACTGGCTGATACTACATATTCCAGATGCTCATCTTTGGGTGAAAAATTGTCGGGAT
CTTCTGCAGTCCAGCTACAACAAACAGCGCTTTGATCAACCTTTAGAGGCTTCAACCTGGCTGAAGAATTTCAAAACTACAAATGAGCGCTTCCTGAACC
AGATAAAAGTTCAAGAGAAGTATGTCTGGAATAAGAGAGAAAGCACTGAGAAAGGGAGTCCTCTGGGAGAAGTGGTTGAACAGGGCATAACACGGGTGAG
GAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTSGGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCT
CTYTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAAATGATGAAAAATGATT
GGCATGGAGGCGCCATTGTGTCGGCTTTGAGCCAGACTGGGTCTCTCTTTAAGCCCCGGAAAGCCTATCTGCCCCAGGAGTTGCTGGGAAAGGGTTTTAC
CACATGGCCCAGGCTCGTCTGGAACTCCTGGGCTCAAGCAATATGCCCATCTCAGCCTCCCAAGGTGCTGGGATTACAGGAAGGATTTGATGCCCTGGAT
CCCTTTATTCCCATCCTGRTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTATYTGGAAAACAATTGGCTTCAACATGAGAAAGCTC
CTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACMCCTCGCTGCTGGAGCGGCACTGTGCCTACCTCTAAGCCAAGATCACAGCATG
TGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACACAGGAAGAGGAGCCAGGCCCTTGTACCTATGGGATT
GGACAGGACTGCAGTTGKCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTT
TATTGGATGTGGTTTTTMACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTTTCTAAAGTGTTGTGTTAGATTAATAATATGGAAGGA
GTCTTTAGATTGGCCAAATTGCATTTCTCTGATATTCCTCTTGTTGCAGGTCAGAAGAGATCAATTCTACAGAAATTTCCAGTGGTTCTGTTGAGGCTTT
ATGGAATTCAGCATGTCAAAATTCACAGCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGCCCAAGGCGGGCAGACTGCTTGAGT
TCAGGAGTTTGCAACCAGCCTGGGCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCACGGTGGCATGCGCCTGTAATCCAAGC
TACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAAATTGCASCACTGCACTCCAGCCTGGGCAGCAGAGCA
AGACTCCGTCTCAAAATAAATAAATAAATAAAT

Protein Sequence    (SEQ ID NO:779):
MMLKGITRLISRIHKAKHGDQHEGQHYNISPQDLETVFPHGLPPRFVMQVKTFSEACLMVRKPALELLHYLKNTSFAYPAIRYLLYGEKGTGKTLSLCHV
IHFCAKQDWLILHIPDAHLWVKNCRDLLQSSYNKQRFDQPLEASTWLKNFKTTNERFLNQIKVQEKYVWNKRESTEKGSPLGEVVEQGITRVRNATDAVG
IVLKELKRQSSLGMFHLLVAVDGINALWGRTTLKREDKSPIAPEELALVHNLRKMMKNDWHGGAIVSALSQTGSLFKPRKAYLPQELLGKGFTTWPRLVW
NSWAQAICPSQPPKVLGLQEGFDALDPFIPILVSNYNPKEFESCIQYYLENNWLQHEKAPTEEGKKELLFLSNANPSLLERHCAYL


SNP Information

Context             (SEQ ID NO:2761):
GTCCTCTGGGAGAAGTGGTTGAACAGGGCATAACACGGGTGAGGAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTT
S
GGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCTTTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAAT
Celera SNP ID:            hCV9632088
SNP Position Transcript:  958
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:779, 212, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:2762):
CTGGAACTCCTGGGCTCAAGCAATATGCCCATCTCAGCCTCCCAAGGTGCTGGGATTACAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTG
R
TTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAA
Celera SNP ID:            hCV25645646
SNP Position Transcript:  1319
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:779, 333, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2763):
GCTTATCTCTAGGATCCATAAGGCCAAGCATGGGGATCAGCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGC
Y
TTCCTCCTCGCTTTGTGATGCAGGTGAAGACATTCAGTGAAGCTTGCCTGATGGTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAG
Celera SNP ID:            hCV9632106
SNP Position Transcript:  446
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:779, 42, (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:2764):
CCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGT
R
CAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGG
Celera SNP ID:            hCV25990810
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,32)   total(A,67|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:779, None



Context             (SEQ ID NO:2765):
GGCACGGTGGCATGCGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAAATTGCA
S
CACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAT
Celera SNP ID:            hCV11341711
SNP Position Transcript:  2171
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,18)   total(G,2|C,18) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2766):
GCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTT
M
ACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTTTCTAAAGTGTTGTGTTAGATTAATAATATGGAAGGAGTCTTTAGATTGGCCAAA
Celera SNP ID:            hCV27065065
SNP Position Transcript:  1718
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2767):
ATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACACAGGAAGAGGAGCCAGGCCCTTGTACCTATGGGATTGGACAGGACTGCAGTTG
K
CTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTTC
Celera SNP ID:            hCV27065066
SNP Position Transcript:  1618
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2768):
GCTGGGATTACAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTGGTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTAT
Y
TGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACCCCTCGCTGCTGGAGCGGCA
Celera SNP ID:            hCV27065067
SNP Position Transcript:  1367
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:779, 349, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:2769):
ACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTGGGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCT
Y
TGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAAATGATGAAAAATGATTGGC
Celera SNP ID:            hCV11341717
SNP Position Transcript:  1003
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,27)   caucasian(T,2)   total(C,3|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:779, 227, (L,CTC)   (L,CTT)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:779, 227, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:2770):
CTGCTCTCCCAGAG
R
TCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCG
Celera SNP ID:            hCV27065111
SNP Position Transcript:  15
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2771):
TGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAG
K
CTGGAGAACTAGTCCTCGACTCACGTGCAAGGATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAGGCCAAGCATGGGGATCAGCACGA
Celera SNP ID:            hCV1463664
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(G,11|T,13)   total(G,18|T,36)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:779, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|T,7)      total(G,3|T,7) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2772):
CTGCTCTC
Y
CAGAGGTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTAC
Celera SNP ID:            hCV27065112
SNP Position Transcript:  9
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:779, None   



Context             (SEQ ID NO:2773):
AAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAAC
M
CCTCGCTGCTGGAGCGGCACTGTGCCTACCTCTAAGCCAAGATCACAGCATGTGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAG
Celera SNP ID:            hCV9632077
SNP Position Transcript:  1448
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:779, 376, (T,ACC)   (P,CCC)      



Gene Number:                 39
Celera Gene:                 hCG17177 - 63000132525541
Celera Transcript:           hCT1966079 - 63000132525644
Public Transcript Accession: NM_004632
Celera Protein:              hCP1780167 - 197000069372661
Public Protein Accession:    NP_004623
Gene Symbol:                 DAP3
Protein Name:                death associated protein 3;DAP-3;MRP-S29;MRPS29;bMRP-10
Celera Genomic Axis:         GA_x5YUV32VSLS(5695971..5746863)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:83):
CTGCTCTCYCAGAGRTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAA
TCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGTRCAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCG
CGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAGKCTGGAGAACT
AGTCCTCGACTCACGAGATGAAGTTTTACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGACCTCCCAAAGTGCTGG
GATTACAGTGCAAGGATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAGTTGGACCCTGGGCGTTTTTTACACATGGGGACCCAGGCTC
GCCAAAGCATTGCTGCTCACCTAGATAACCAGGTTCCAGTTGAGAGTCCGAGAGCTATTTCCCGCACCAATGAGAATGACCCGGCCAAGCATGGGGATCA
GCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGCYTTCCTCCTCGCTTTGTGATGCAGGTGAAGACATTCAGT
GAAGCTTGCCTGATGGTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAGTTTTGCTTATCCAGCTATACGATATCTTCTGTATGGAG
AGAAGGGAACAGGAAAAACCCTAAGTCTTTGCCATGTTATTCATTTCTGTGCAAAACAGGACTGGCTGATACTACATATTCCAGATGCTCATCTTTGGGT
GAAAAATTGTCGGGATCTTCTGCAGTCCAGCTACAACAAACAGCGCTTTGATCAACCTTTAGAGGCTTCAACCTGGCTGAAGAATTTCAAAACTACAAAT
GAGCGCTTCCTGAACCAGATAAAAGTTCAAGAGAAGTATGTCTGGAATAAGAGAGAAAGCACTGAGAAAGGGAGTCCTCTGGGAGAAGTGGTTGAACAGG
GCATAACACGGGTGAGGAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTSGGTATGTTTCACCTCCTAGTGGCCGT
GGATGGAATCAATGCTCTYTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAA
ATGATGAAAAATGATTGGCATGGAGGCGCCATTGTGTCGGCTTTGAGCCAGACTGGGTCTCTCTTTAAGCCCCGGAAAGCCTATCTGCCCCAGGAGTTGC
TGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTGRTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTATYTGGA
AAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACMCCTCGCTGCTGGAGCGGCACTGT
GCCTACCTCTAAGCCAAGATCACAGCATGTGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACACAGGAAG
AGGAGCCAGGCCCTTGTACCTATGGGATTGGACAGGACTGCAGTTGKCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATAT
TCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTTMACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTTTCTAAAG
TGTTGTGTTAGATTAATAATATGGAAGGAGTCTTTAGATTGGCCAAATTGCATTTCTCTGATATTCCTCTTGTTGCAGGTCAGAAGAGATCAATTCTACA
GAAATTTCCAGTGGTTCTGTTGAGGCTTTATGGAATTCAGCATGTCAAAATTCACAGCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTG
GAAGCCCAAGGCGGGCAGACTGCTTGAGTTCAGGAGTTTGCAACCAGCCTGGGCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCCGG
GCACGGTGGCATGCGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAAATTGCAS
CACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAT

Protein Sequence    (SEQ ID NO:780):
MMLKGITRLISRIHKLDPGRFLHMGTQARQSIAAHLDNQVPVESPRAISRTNENDPAKHGDQHEGQHYNISPQDLETVFPHGLPPRFVMQVKTFSEACLM
VRKPALELLHYLKNTSFAYPAIRYLLYGEKGTGKTLSLCHVIHFCAKQDWLILHIPDAHLWVKNCRDLLQSSYNKQRFDQPLEASTWLKNFKTTNERFLN
QIKVQEKYVWNKRESTEKGSPLGEVVEQGITRVRNATDAVGIVLKELKRQSSLGMFHLLVAVDGINALWGRTTLKREDKSPIAPEELALVHNLRKMMKND
WHGGAIVSALSQTGSLFKPRKAYLPQELLGKEGFDALDPFIPILVSNYNPKEFESCIQYYLENNWLQHEKAPTEEGKKELLFLSNANPSLLERHCAYL


SNP Information

Context             (SEQ ID NO:2774):
GTCCTCTGGGAGAAGTGGTTGAACAGGGCATAACACGGGTGAGGAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTT
S
GGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCTTTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAAT
Celera SNP ID:            hCV9632088
SNP Position Transcript:  1174
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:780, 253, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:2775):
CCAGACTGGGTCTCTCTTTAAGCCCCGGAAAGCCTATCTGCCCCAGGAGTTGCTGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTG
R
TTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAA
Celera SNP ID:            hCV25645646
SNP Position Transcript:  1448
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:780, 345, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2776):
CCGCACCAATGAGAATGACCCGGCCAAGCATGGGGATCAGCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGC
Y
TTCCTCCTCGCTTTGTGATGCAGGTGAAGACATTCAGTGAAGCTTGCCTGATGGTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAG
Celera SNP ID:            hCV9632106
SNP Position Transcript:  662
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:780, 83, (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:2777):
CCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGT
R
CAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGG
Celera SNP ID:            hCV25990810
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,32)   total(A,67|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:780, None



Context             (SEQ ID NO:2778):
GGCACGGTGGCATGCGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAAATTGCA
S
CACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAT
Celera SNP ID:            hCV11341711
SNP Position Transcript:  2300
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,18)   total(G,2|C,18) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2779):
GCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTT
M
ACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTTTCTAAAGTGTTGTGTTAGATTAATAATATGGAAGGAGTCTTTAGATTGGCCAAA
Celera SNP ID:            hCV27065065
SNP Position Transcript:  1847
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2780):
ATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACACAGGAAGAGGAGCCAGGCCCTTGTACCTATGGGATTGGACAGGACTGCAGTTG
K
CTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTTC
Celera SNP ID:            hCV27065066
SNP Position Transcript:  1747
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2781):
GTTGCTGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTGGTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTAT
Y
TGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACCCCTCGCTGCTGGAGCGGCA
Celera SNP ID:            hCV27065067
SNP Position Transcript:  1496
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:780, 361, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:2782):
ACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTGGGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCT
Y
TGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAAATGATGAAAAATGATTGGC
Celera SNP ID:            hCV11341717
SNP Position Transcript:  1219
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,27)   caucasian(T,2)   total(C,3|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:780, 268, (L,CTC)   (L,CTT)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:780, 268, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:2783):
CTGCTCTCCCAGAG
R
TCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCG
Celera SNP ID:            hCV27065111
SNP Position Transcript:  15
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2784):
TGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAG
K
CTGGAGAACTAGTCCTCGACTCACGAGATGAAGTTTTACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGACCTCCC
Celera SNP ID:            hCV1463664
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(G,11|T,13)   total(G,18|T,36)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:780, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|T,7)      total(G,3|T,7) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2785):
CTGCTCTC
Y
CAGAGGTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTAC
Celera SNP ID:            hCV27065112
SNP Position Transcript:  9
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:780, None   



Context             (SEQ ID NO:2786):
AAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAAC
M
CCTCGCTGCTGGAGCGGCACTGTGCCTACCTCTAAGCCAAGATCACAGCATGTGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAG
Celera SNP ID:            hCV9632077
SNP Position Transcript:  1577
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:780, 388, (T,ACC)   (P,CCC)      



Gene Number:                 39
Celera Gene:                 hCG17177 - 63000132525541
Celera Transcript:           hCT8225 - 63000132525576
Public Transcript Accession: NM_004632
Celera Protein:              hCP35146 - 197000069372657
Public Protein Accession:    NP_004623
Gene Symbol:                 DAP3
Protein Name:                death associated protein 3;DAP-3;MRP-S29;MRPS29;bMRP-10
Celera Genomic Axis:         GA_x5YUV32VSLS(5695971..5746863)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:84):
CTGCTCTCYCAGAGRTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAA
TCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGTRCAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCG
CGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAGKCTGGAGAACT
AGTCCTCGACTCACGTGCAAGGATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAGTTGGACCCTGGGCGTTTTTTACACATGGGGACC
CAGGCTCGCCAAAGCATTGCTGCTCACCTAGATAACCAGGTTCCAGTTGAGAGTCCGAGAGCTATTTCCCGCACCAATGAGAATGACCCGGCCAAGCATG
GGGATCAGCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGCYTTCCTCCTCGCTTTGTGATGCAGGTGAAGAC
ATTCAGTGAAGCTTGCCTGATGGTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAGTTTTGCTTATCCAGCTATACGATATCTTCTG
TATGGAGAGAAGGGAACAGGAAAAACCCTAAGTCTTTGCCATGTTATTCATTTCTGTGCAAAACAGGACTGGCTGATACTACATATTCCAGATGCTCATC
TTTGGGTGAAAAATTGTCGGGATCTTCTGCAGTCCAGCTACAACAAACAGCGCTTTGATCAACCTTTAGAGGCTTCAACCTGGCTGAAGAATTTCAAAAC
TACAAATGAGCGCTTCCTGAACCAGATAAAAGTTCAAGAGAAGTATGTCTGGAATAAGAGAGAAAGCACTGAGAAAGGGAGTCCTCTGGGAGAAGTGGTT
GAACAGGGCATAACACGGGTGAGGAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTSGGTATGTTTCACCTCCTAG
TGGCCGTGGATGGAATCAATGCTCTYTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTT
GAGGAAAATGATGAAAAATGATTGGCATGGAGGCGCCATTGTGTCGGCTTTGAGCCAGACTGGGTCTCTCTTTAAGCCCCGGAAAGCCTATCTGCCCCAG
GAGTTGCTGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTGRTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATT
ATYTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACMCCTCGCTGCTGGAGCG
GCACTGTGCCTACCTCTAAGCCAAGATCACAGCATGTGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACA
CAGGAAGAGGAGCCAGGCCCTTGTACCTATGGGATTGGACAGGACTGCAGTTGKCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAAT
AAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTTMACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTT
TCTAAAGTGTTGTGTTAGATTAATAATATGGAAGGAGTCTTTAGATTGGCCAAATTGCATTTCTCTGATATTCCTCTTGTTGCAGGTCAGAAGAGATCAA
TTCTACAGAAATTTCCAGTGGTTCTGTTGAGGCTTTATGGAATTCAGCATGTCAAAATTCACAGCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAG
CACTTTGGAAGCCCAAGGCGGGCAGACTGCTTGAGTTCAGGAGTTTGCAACCAGCCTGGGCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAAT
TAGCCGGGCACGGTGGCATGCGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAA
ATTGCASCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAT

Protein Sequence    (SEQ ID NO:781):
MMLKGITRLISRIHKLDPGRFLHMGTQARQSIAAHLDNQVPVESPRAISRTNENDPAKHGDQHEGQHYNISPQDLETVFPHGLPPRFVMQVKTFSEACLM
VRKPALELLHYLKNTSFAYPAIRYLLYGEKGTGKTLSLCHVIHFCAKQDWLILHIPDAHLWVKNCRDLLQSSYNKQRFDQPLEASTWLKNFKTTNERFLN
QIKVQEKYVWNKRESTEKGSPLGEVVEQGITRVRNATDAVGIVLKELKRQSSLGMFHLLVAVDGINALWGRTTLKREDKSPIAPEELALVHNLRKMMKND
WHGGAIVSALSQTGSLFKPRKAYLPQELLGKEGFDALDPFIPILVSNYNPKEFESCIQYYLENNWLQHEKAPTEEGKKELLFLSNANPSLLERHCAYL


SNP Information

Context             (SEQ ID NO:2787):
GTCCTCTGGGAGAAGTGGTTGAACAGGGCATAACACGGGTGAGGAACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTT
S
GGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCTTTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAAT
Celera SNP ID:            hCV9632088
SNP Position Transcript:  1081
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:781, 253, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:2788):
CCAGACTGGGTCTCTCTTTAAGCCCCGGAAAGCCTATCTGCCCCAGGAGTTGCTGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTG
R
TTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAA
Celera SNP ID:            hCV25645646
SNP Position Transcript:  1355
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:781, 345, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2789):
CCGCACCAATGAGAATGACCCGGCCAAGCATGGGGATCAGCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCCCATGGC
Y
TTCCTCCTCGCTTTGTGATGCAGGTGAAGACATTCAGTGAAGCTTGCCTGATGGTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAG
Celera SNP ID:            hCV9632106
SNP Position Transcript:  569
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:781, 83, (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:2790):
CCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCGTGTCGGAGGCCGAGAGCGATGAGAGT
R
CAGGGAAGTGAGGAAGAGGGGGTGGCCGCCAGGCTCCTCCGCTTCCCTGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGG
Celera SNP ID:            hCV25990810
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,32)   total(A,67|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:781, None



Context             (SEQ ID NO:2791):
GGCACGGTGGCATGCGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTCAACTTGGGAGGCGGATGTTGCAGTGAGCCAAAATTGCA
S
CACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAT
Celera SNP ID:            hCV11341711
SNP Position Transcript:  2207
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,18)   total(G,2|C,18) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2792):
GCTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTT
M
ACATTTAAGATAATTATGGCTCTTTTCCTAAAAAATAAAATATCTTTCTAAAGTGTTGTGTTAGATTAATAATATGGAAGGAGTCTTTAGATTGGCCAAA
Celera SNP ID:            hCV27065065
SNP Position Transcript:  1754
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2793):
ATCTGCTTTATGCTGGACCCAGTAAGATGAGGAAGTCGGGCAGTACACAGGAAGAGGAGCCAGGCCCTTGTACCTATGGGATTGGACAGGACTGCAGTTG
K
CTCTGGACCTGCATTAAAATGGGTTTCACTGTGAATGCGTGACAATAAGATATTCCCTTGTTCCTAAAACTTTATATCAGTTTATTGGATGTGGTTTTTC
Celera SNP ID:            hCV27065066
SNP Position Transcript:  1654
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2794):
GTTGCTGGGAAAGGAAGGATTTGATGCCCTGGATCCCTTTATTCCCATCCTGGTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTAT
Y
TGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAACCCCTCGCTGCTGGAGCGGCA
Celera SNP ID:            hCV27065067
SNP Position Transcript:  1403
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:781, 361, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:2795):
ACGCCACAGATGCAGTTGGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTGGGTATGTTTCACCTCCTAGTGGCCGTGGATGGAATCAATGCTCT
Y
TGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGCCCGATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAAATGATGAAAAATGATTGGC
Celera SNP ID:            hCV11341717
SNP Position Transcript:  1126
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,27)   caucasian(T,2)   total(C,3|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:781, 268, (L,CTC)   (L,CTT)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:781, 268, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:2796):
CTGCTCTCCCAGAG
R
TCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTACTCACCG
Celera SNP ID:            hCV27065111
SNP Position Transcript:  15
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2797):
TGGGTCCACCGCGGATCCCTCCCGCTTGTCAGGAGGCGGCCAGCGGTCTCAGGACGGGCGCTTTGGAGCCGGCCCCAGGCAGCGTGTGTCGGTCGCCTAG
K
CTGGAGAACTAGTCCTCGACTCACGTGCAAGGATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAGTTGGACCCTGGGCGTTTTTTACA
Celera SNP ID:            hCV1463664
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(G,11|T,13)   total(G,18|T,36)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:781, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|T,7)      total(G,3|T,7) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2798):
CTGCTCTC
Y
CAGAGGTCCAGGTCCGGGAGATGACAGTGGCTCCCAGAAAGCCCAGGATTCAATCGCTGAGAGAGTGCTTAGGCCCGAATGCCGGCCCAAATCGTTCTAC
Celera SNP ID:            hCV27065112
SNP Position Transcript:  9
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:781, None   



Context             (SEQ ID NO:2799):
AAGTTGTATTCAGTATTATTTGGAAAACAATTGGCTTCAACATGAGAAAGCTCCTACAGAAGAAGGGAAAAAAGAGCTGCTGTTCCTAAGTAACGCGAAC
M
CCTCGCTGCTGGAGCGGCACTGTGCCTACCTCTAAGCCAAGATCACAGCATGTGAGGAAGACAGTGGACATCTGCTTTATGCTGGACCCAGTAAGATGAG
Celera SNP ID:            hCV9632077
SNP Position Transcript:  1484
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:781, 388, (T,ACC)   (P,CCC)      



Gene Number:                 40
Celera Gene:                 hCG17193 - 63000132525338
Celera Transcript:           hCT2278860 - 63000132525347
Public Transcript Accession: NM_152280
Celera Protein:              hCP1859502 - 197000069372636
Public Protein Accession:    NP_689493
Gene Symbol:                 SYT11
Protein Name:                synaptotagmin XI;KIAA0080;MGC10881;MGC17226;SYT12
Celera Genomic Axis:         GA_x5YUV32VSLS(5549799..5575486)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:85):
GGCGGAGCCTACCTCTCATCAGGACCAGTCTGACTGCACCTGCATCCTTAGCTCAGMGCATCCCCGGAGCATCTTAAGAGCTGAGCGCAGCTGACAACTA
GGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGCSTCGGTACTGACCGAGGGTTCCCAGA
GCTGTCTYACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACCTAGCTTTGATGTGTCACCGGTGGTG
GCCGGCCTCATCGGGGCCTCTGTGCTGGTGGTGTGTGTCTCGGTGACCGTCTTTGTCTGGTCATGCTGCCACCAGCAGGCAGAGAAGAAGCASAAGAACC
CACCATACAAGTTTATTCACATGCTCAAAGGCATCAGCATATACCCAGAGACCCTCAGCAACAAGAAGAAAATCATCAAAGTGCGGAGAGACAAAGATGG
TCCTGGGAGGGAAGGTGGACGTAGGAACCTGTTGGTGGACGCAGCAGAGGCTGGCCTGCTAAGCCGAGACAAAGATCCCAGGGGGCCTAGCTCTGGATCT
TGTATAGACCAATTACCCATCAAAATGGACTATGGGGAAGAACTAAGGAGCCCTATTACAAGCCTGACCCCTGGGGAGAGCAAAACCACCTCTCCATCAT
CTCCAGAGGAGGATGTCATGCTAGGATCCCTCACCTTCTCAGTGGACTATAACTTCCCGAAAAAAGCCCTGGTGGTGACAATCCAGGAGGCCCAYGGGCT
GCCAGTGATGGATGACCAGACCCAGGGATCTGACCCCTACATCAAAATGACCATCCTTCCTGACAAACGGCATCGGGTGAAGACCAGAGTGCTGCGGAAG
ACCCTGGACCCTGTGTTTGACGAGACCTTCACCTTCTATGGCATCCCCTACAGCCAGCTGCAGGACCTGGTGCTGCACTTCCTTGTCCTCAGCTTTGACC
GCTTCTCTCGGGATGATGTCATTGGCGAGGTCATGGTGCCACTGGCAGGGGTGGACCCCAGCACAGGCAAGGTACAACTGACCAGGGACATCATCAAAAG
GAATATCCAGAAGTGCATCAGCAGAGGGGAGCTCCAGGTGTCTCTGTCATATCAGCCTGTGGCACAGAGAATGACAGTGGTGGTCCTCAAAGCCAGACAC
TTGCCGAAGATGGATATCACCGGTCTCTCAGATCCTTATGTCAAGGTGAACGTCTACTACGGCAGAAAGCGCATTGCCAAGAAGAAAACCCATGTGAAGA
AGTGCACTTTGAACCCCATCTTCAATGAATCTTTCATCTACGACATCCCCACTGACCTCCTGCCTGATATCAGCATCGAGTTCCTCGTTATCGACTTCGA
TCGCACCACCAAGAATGAGGTGGTGGGGAGGCTGATCCTGGGGGCACACAGTGTCACAGCCAGTGGTGCTGAACACTGGAGAGAGGTCTGCGAGAGCCCC
CGCAAGCCTGTGGCCAAGTGGCACAGTCTGAGCGAGTACTAATCCTGTTCTTCTCTCCTCTAATCCCCGGGGGCCAAGCTGGGGAGGGATGTGGAGGGGA
AAAAGATGACAGAGAAGTGGACTCCAAACCTCATTTTAGTTGTAGAAGAAAATTTCTTACAAAACAAATTCCACAAAGAACACCCTATATGACCACAGCT
GCAGATCAGTTCTTAGCAATGATGTTTTTTTTTCTGCTTTGCAAGGCGCTAGAATCTTTTATTTTACTTTATTTTTTTTGAGGTGGAGTTTCGCTCTTGT
TGCCCGGGCTGGAGTGCAATGGTGAGATCTCAACTCACTGCAACCTCTGCCCTCCAGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAACTATTCAGGAG
GCTGAGGTGGGAGGATCATTTGAGCCCAGAGGTAGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCTGGGCTGGGTAACAGAGTGAGATCCTGTCT
CAAAAATTAATTAATTAATTAATTAAAATAAACTAGGTAAACTTGGATAGGCAGTAGATATTTTTGCCCACCTGAGGAGGAACTCAGTCAAGCTGTTGCT
TAACAGCTTGATCCAGGGCGTGAAAGGTTAGTTGAGACTGAAGTGTTCACTTCCATAGAAGAACATCACTTTTAACCTTGCTTTGGCGAAGGGAGTCGGA
AAGCTGAGTCTCTATGGACGGGGGGGTGATCTTGCTTTCAGTGTTCCCTCAGCTTTTGTGGATTTAAAACCATTCTGCTCCCCCTAAACCTTTTGTTTGA
TTTCAGCCCATGTTCTTGACAATGCAGAGCAATTCTGAGCAGTCACAAAGCCTACTCTCTGTTCTTGTCCCTGCCAACCCCCACCCCCCATAATCTGACT
CACAACTTCACCATCAGTTGGGGTCATACCACTAGTCTCTGTCCTATACCCCATGAAATGTAAATACTGTATCATAAGTAGAAGAAAATAATTTTTGTTT
TCTAAAAATGCATTTTGAGATAGTTTAATGTAAATCTGACAGGAGCATTCTGAAGCCCCATTAGGAAAAAATTTAAATGGTTCCTCTTCATCGCCTTAAT
GTCTAAAGATCAGAAATCGCTGAGCAAACCCGCTTTTGTTTCCTTCCCAGAAACAATGCAAAACAACAGGTGGAGATAGTCTGGTCTTTGCCCTGCTGTG
TGTGCCTCTGTAGCTCCTCCTGACAAACGTCTGGGAAAACAGCCTCACCCCACTCTCCTCTCTCTTCCCCATTTCCTTGTAGCTTTATTCCTTGCATCTT
TGGGTCTACTGAGCAGTGGGTGCTGAGGTGACAGGGGAGGAACCAGTTGTTCTGTAGCCTAGGAACTGCCTCAGTGTCTTTGCCAGAAAAAGGCAAAGAG
GCGGACAGTGCAGGGCTCCTCCCTCCTACCTCAGGCCTGATCCATCGTGCCCTTGACTTTGCCGTCTCAAAGTTTCTTAGCTGACTTTGGCTTTCACATT
TGTTCTTTCCAGAGCTAACTGATAAGAGTGGAGGAGGAATGCCTTCTCCTAAGAGTCAGTTGAAAGAAAGACAAGAGAGTCACATCTTAGCTTTTGCACA
AGGCATTCGTGGTCAGGAATAGGTTAGGGAATGGTCACTTCTGATTTTCCAACAGTTGCTCCTTCTCTGAAGAGATCTTGATTCCTTTGGGAAGACAAGA
ATTTTTCTTAATAACAAAGGTCCCTTTTCTTGGAAGGCTTGTACTATGGCCATGACAGTGACATTGCCCTCACCATGATCCCTCTCCAAAGTGGTTGTCT
TTYTTTACCTTGTGTCTTCTCTTGTAAAAATGAAACTCAAAAATAAAATAAATGTGTCAAATTTTGAAAAAAAAAGAAAACTGAAAAAGCTAACATGAAT
TGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTATSTTGAATTTGTTAATGCMCCACACAAGTGCAAAATAAAGACT
GATTCACATTACATAGGCACAG

Protein Sequence    (SEQ ID NO:782):
MAEITNIRPSFDVSPVVAGLIGASVLVVCVSVTVFVWSCCHQQAEKKHKNPPYKFIHMLKGISIYPETLSNKKKIIKVRRDKDGPGREGGRRNLLVDAAE
AGLLSRDKDPRGPSSGSCIDQLPIKMDYGEELRSPITSLTPGESKTTSPSSPEEDVMLGSLTFSVDYNFPKKALVVTIQEAHGLPVMDDQTQGSDPYIKM
TILPDKRHRVKTRVLRKTLDPVFDETFTFYGIPYSQLQDLVLHFLVLSFDRFSRDDVIGEVMVPLAGVDPSTGKVQLTRDIIKRNIQKCISRGELQVSLS
YQPVAQRMTVVVLKARHLPKMDITGLSDPYVKVNVYYGRKRIAKKKTHVKKCTLNPIFNESFIYDIPTDLLPDISIEFLVIDFDRTTKNEVVGRLILGAH
SVTASGAEHWREVCESPRKPVAKWHSLSEY


SNP Information

Context             (SEQ ID NO:2800):
TTTTCTTAATAACAAAGGTCCCTTTTCTTGGAAGGCTTGTACTATGGCCATGACAGTGACATTGCCCTCACCATGATCCCTCTCCAAAGTGGTTGTCTTT
Y
TTTACCTTGTGTCTTCTCTTGTAAAAATGAAACTCAAAAATAAAATAAATGTGTCAAATTTTGAAAAAAAAAGAAAACTGAAAAAGCTAACATGAATTGT
Celera SNP ID:            hCV11341169
SNP Position Transcript:  3303
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:782, None   



Context             (SEQ ID NO:2801):
CGGTGGTGGCCGGCCTCATCGGGGCCTCTGTGCTGGTGGTGTGTGTCTCGGTGACCGTCTTTGTCTGGTCATGCTGCCACCAGCAGGCAGAGAAGAAGCA
S
AAGAACCCACCATACAAGTTTATTCACATGCTCAAAGGCATCAGCATATACCCAGAGACCCTCAGCAACAAGAAGAAAATCATCAAAGTGCGGAGAGACA
Celera SNP ID:            hCV9630769
SNP Position Transcript:  393
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:782, 48, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:2802):
GACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGCCTCGGTACTGACCGAGGGTTCCCAGAGCTGTCT
Y
ACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACCTAGCTTTGATGTGTCACCGGTGGTGGCCGGCCT
Celera SNP ID:            hCV9102201
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,21|T,17)   total(C,53|T,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;JBIC-allele(C,350|T,1125)   total(C,350|T,1125)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None   



Context             (SEQ ID NO:2803):
CATCATCTCCAGAGGAGGATGTCATGCTAGGATCCCTCACCTTCTCAGTGGACTATAACTTCCCGAAAAAAGCCCTGGTGGTGACAATCCAGGAGGCCCA
Y
GGGCTGCCAGTGATGGATGACCAGACCCAGGGATCTGACCCCTACATCAAAATGACCATCCTTCCTGACAAACGGCATCGGGTGAAGACCAGAGTGCTGC
Celera SNP ID:            hCV9630770
SNP Position Transcript:  795
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,40)   total(C,69|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:782, 182, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:782, 182, (H,CAC)   (H,CAT)      182, (H,CAT)   (H,CAC)      



Context             (SEQ ID NO:2804):
GGCGGAGCCTACCTCTCATCAGGACCAGTCTGACTGCACCTGCATCCTTAGCTCAG
M
GCATCCCCGGAGCATCTTAAGAGCTGAGCGCAGCTGACAACTAGGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAG
Celera SNP ID:            hCV9630763
SNP Position Transcript:  57
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32)   total(A,58|C,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None

SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,5)   caucasian(A,38)   total(A,65|C,5)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None   



Context             (SEQ ID NO:2805):
AAATTTTGAAAAAAAAAGAAAACTGAAAAAGCTAACATGAATTGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTAT
S
TTGAATTTGTTAATGCACCACACAAGTGCAAAATAAAGACTGATTCACATTACATAGGCACAG
Celera SNP ID:            hCV27470759
SNP Position Transcript:  3459
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:782, None   



Context             (SEQ ID NO:2806):
GAAAACTGAAAAAGCTAACATGAATTGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTATGTTGAATTTGTTAATGC
M
CCACACAAGTGCAAAATAAAGACTGATTCACATTACATAGGCACAG
Celera SNP ID:            hCV9632015
SNP Position Transcript:  3476
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:782, None   



Context             (SEQ ID NO:2807):
TAAGAGCTGAGCGCAGCTGACAACTAGGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGC
S
TCGGTACTGACCGAGGGTTCCCAGAGCTGTCTCACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACC
Celera SNP ID:            hCV25645839
SNP Position Transcript:  175
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:782, None



Gene Number:                 40
Celera Gene:                 hCG17193 - 63000132525338
Celera Transcript:           hCT8241 - 63000132525339
Public Transcript Accession: NM_152280
Celera Protein:              hCP35137 - 197000069372630
Public Protein Accession:    NP_689493
Gene Symbol:                 SYT11
Protein Name:                synaptotagmin XI;KIAA0080;MGC10881;MGC17226;SYT12
Celera Genomic Axis:         GA_x5YUV32VSLS(5549802..5575486)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:86):
GGCGGAGCCTACCTCTCATCAGGACCAGTCTGACTGCACCTGCATCCTTAGCTCAGMGCATCCCCGGAGCATCTTAAGAGCTGAGCGCAGCTGACAACTA
GGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGCSTCGGTACTGACCGAGGGTTCCCAGA
GCTGTCTYACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACCTAGCTTTGATGTGTCACCGGTGGTG
GCCGGCCTCATCGGGGCCTCTGTGCTGGTGGTGTGTGTCTCGGTGACCGTCTTTGTCTGGTCATGCTGCCACCAGCAGGCAGAGAAGAAGCASAAGAACC
CACCATACAAGTTTATTCACATGCTCAAAGGCATCAGCATATACCCAGAGACCCTCAGCAACAAGAAGAAAATCATCAAAGTGCGGAGAGACAAAGATGG
TCCTGGGAGGGAAGGTGGACGTAGGAACCTGTTGGTGGACGCAGCAGAGGCTGGCCTGCTAAGCCGAGACAAAGATCCCAGGGGGCCTAGCTCTGGATCT
TGTATAGACCAATTACCCATCAAAATGGACTATGGGGAAGAACTAAGGAGCCCTATTACAAGCCTGACCCCTGGGGAGAGCAAAACCACCTCTCCATCAT
CTCCAGAGGAGGATGTCATGCTAGGATCCCTCACCTTCTCAGTGGACTATAACTTCCCGAAAAAAGCCCTGGTGGTGACAATCCAGGAGGCCCAYGGGCT
GCCAGTGATGGATGACCAGACCCAGGGATCTGACCCCTACATCAAAATGACCATCCTTCCTGACAAACGGCATCGGGTGAAGACCAGAGTGCTGCGGAAG
ACCCTGGACCCTGTGTTTGACGAGACCTTCACCTTCTATGGCATCCCCTACAGCCAGCTGCAGGACCTGGTGCTGCACTTCCTTGTCCTCAGCTTTGACC
GCTTCTCTCGGGATGATGTCATTGGCGAGGTCATGGTGCCACTGGCAGGGGTGGACCCCAGCACAGGCAAGGTACAACTGACCAGGGACATCATCAAAAG
GAATATCCAGAAGTGCATCAGCAGAGGGGAGCTCCAGGTGTCTCTGTCATATCAGCCTGTGGCACAGAGAATGACAGTGGTGGTCCTCAAAGCCAGACAC
TTGCCGAAGATGGATATCACCGGTCTCTCAGGTAATCCTTATGTCAAGGTGAACGTCTACTACGGCAGAAAGCGCATTGCCAAGAAGAAAACCCATGTGA
AGAAGTGCACTTTGAACCCCATCTTCAATGAATCTTTCATCTACGACATCCCCACTGACCTCCTGCCTGATATCAGCATCGAGTTCCTCGTTATCGACTT
CGATCGCACCACCAAGAATGAGGTGGTGGGGAGGCTGATCCTGGGGGCACACAGTGTCACAGCCAGTGGTGCTGAACACTGGAGAGAGGTCTGCGAGAGC
CCCCGCAAGCCTGTGGCCAAGTGGCACAGTCTGAGCGAGTACTAATCCTGTTCTTCTCTCCTCTAATCCCCGGGGGCCAAGCTGGGGAGGGATGTGGAGG
GGAAAAAGATGACAGAGAAGTGGACTCCAAACCTCATTTTAGTTGTAGAAGAAAATTTCTTACAAAACAAATTCCACAAAGAACACCCTATATGACCACA
GCTGCAGATCAGTTCTTAGCAATGATGTTTTTTTTTCTGCTTTGCAAGGCGCTAGAATCTTTTATTTTACTTTATTTTTTTTGAGGTGGAGTTTCGCTCT
TGTTGCCCGGGCTGGAGTGCAATGGTGAGATCTCAACTCACTGCAACCTCTGCCCTCCAGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGG
GATTACAGGCACCCACGAGCATGCCCGGCTAATTTTTTGTATTTTCAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCAGACCTCA
GGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACCGTGCCCGGCCTCTGGTTTTGTTTTGTTTTTTTTTTTTAATGGGGG
ACAAAAGAGAGGGAAAGACCCCTATAAATCTATATATAACAATGTAACCATATACTTGCATGTCTAATACAAACTGAAGAAATTAGCCTAACTGCCAATA
TCAAGTTGCAGATTTTAATCCATGGAAATTGTGTTTTGTGCTGAATTGTATTTKCTGATTACCTGAAATTGGCTTCTTTTTATTGGGCTTCTCTGGAGAA
TTTCTCCCACTCCCCACCTCTGCAGAAGAAAATTTTGCTCTTATAAAACCTCATGTTTTCATCATTCCYATCTTTTCTTTTTATTGCCTCTTATATCTCT
GCTCTTTGACCTCAAGGTCTAGAGGTCTGCAGTAAGCCAAGAAACAAAGGTGGGGTGGATGAGGCAAGGTTTGCAGGAGAAAGAGGAATTGAGAAATGGG
GTATTTTTGCTATCAGCTCTTCTGCTATGAAGTAGTAAAAGGCAGTCTATAATTAACTGACAGACCTAACTGAAGCACAGAGAATACATCAGACTTATGC
ATCCAAGACATCAGAACTTGGATTTTATCAAACTTGATGACTTCTCTAAAAGGAGCTTTGGAAACTTCAAATTCAGCTATAGGATAGTACCAATGAACAC
ATCCAGCTGATCCCAAAAGCTGTTTTCAGGTATAAGGACAAGGAGAGGAGACAAGTGACGACAGCCATTCCCCTTTGCAGCTATCTACTGTAGTGACAGC
CATTTCTTGGTTGATGGGTTGGAAGTCATCAGAGGTTTGAAGAATTACACTGGCCTTTGTTTTTCTGGAAATGCCGACCATGGAGATGCTTTAGAGTCTT
CTCAAATAGCTTAGATGTTGTAATGAGGTTAGCTTTGCTTCATAAAACAGGGGCCCTCAGAAGTTCTCCTTAAATTTTTCAATAAAAATTTAGCTCTTAA
AAAAATAACAGTGTGACTGAGTGAATGAAGATAAGTTGGATTCTTTCAGAGCATTCTTTTCCTCAAAACGAGCTGCATAATTCTTGGAATTTATGTCTTA
CCACATGGTGGAGGGATGGAGGAACTACAGGATGCAATTCTTCTTCTACCAATGGGCAATAGAGGTTGAGAGAGATTCAGCATCTTTCTGGGATTAGAAT
TCAAGTCTCTTTACTCCTACAGCAGCTGTGTCTCCAACGTTGAGACTTTGCAGATGGCACAGACTCCATGGATAATAGGTAAACTTGGGGCCGGGCGCAG
TGGCTCACGCCTGTAATCCCAGTATTTTGGGAGGCCGAGGTGGAAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATGACGAAACTCCA
TCTCTATCAAAAATACAAAAAATTAACTAGGTGTGGTGCTGCACGCCTGTGGTCCCAGCTATTCAGGAGGCTGAGGTGGGAGGATCATTTGAGCCCAGAG
GTAGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCTGGGCTGGGTAACAGAGTGAGATCCTGTCTCAAAAATTAATTAATTAATTAATTAAAATAA
ACTAGGTAAACTTGGATAGGCAGTAGATATTTTTGCCCACCTGAGGAGGAACTCAGTCAAGCTGTTGCTTAACAGCTTGATCCAGGGCGTGAAAGGTTAG
TTGAGACTGAAGTGTTCACTTCCATAGAAGAACATCACTTTTAACCTTGCTTTGGCGAAGGGAGTCGGAAAGCTGAGTCTCTATGGACGGGGGGGTGATC
TTGCTTTCAGTGTTCCCTCAGCTTTTGTGGATTTAAAACCATTCTGCTCCCCCTAAACCTTTTGTTTGATTTCAGCCCATGTTCTTGACAATGCAGAGCA
ATTCTGAGCAGTCACAAAGCCTACTCTCTGTTCTTGTCCCTGCCAACCCCCACCCCCCATAATCTGACTCACAACTTCACCATCAGTTGGGGTCATACCA
CTAGTCTCTGTCCTATACCCCATGAAATGTAAATACTGTATCATAAGTAGAAGAAAATAATTTTTGTTTTCTAAAAATGCATTTTGAGATAGTTTAATGT
AAATCTGACAGGAGCATTCTGAAGCCCCATTAGGAAAAAATTTAAATGGTTCCTCTTCATCGCCTTAATGTCTAAAGATCAGAAATCGCTGAGCAAACCC
GCTTTTGTTTCCTTCCCAGAAACAATGCAAAACAACAGGTGGAGATAGTCTGGTCTTTGCCCTGCTGTGTGTGCCTCTGTAGCTCCTCCTGACAAACGTC
TGGGAAAACAGCCTCACCCCACTCTCCTCTCTCTTCCCCATTTCCTTGTAGCTTTATTCCTTGCATCTTTGGGTCTACTGAGCAGTGGGTGCTGAGGTGA
CAGGGGAGGAACCAGTTGTTCTGTAGCCTAGGAACTGCCTCAGTGTCTTTGCCAGAAAAAGGCAAAGAGGCGGACAGTGCAGGGCTCCTCCCTCCTACCT
CAGGCCTGATCCATCGTGCCCTTGACTTTGCCGTCTCAAAGTTTCTTAGCTGACTTTGGCTTTCACATTTGTTCTTTCCAGAGCTAACTGATAAGAGTGG
AGGAGGAATGCCTTCTCCTAAGAGTCAGTTGAAAGAAAGACAAGAGAGTCACATCTTAGCTTTTGCACAAGGCATTCGTGGTCAGGAATAGGTTAGGGAA
TGGTCACTTCTGATTTTCCAACAGTTGCTCCTTCTCTGAAGAGATCTTGATTCCTTTGGGAAGACAAGAATTTTTCTTAATAACAAAGGTCCCTTTATGA
GTTATTCCTTCTTTCAGTTCATCTCACTGGAGCACAGCCAAGATGGACATGTTTATGGACAGTGCTCTAGATGTGAAAACAGATAGAACTGGTTTGTGGG
ACAGGGGCAGCTTGCTCAGGAGAGGGAATAACGCAGGTCCCTTTTCTTGGAAGGCTTGTACTATGGCCATGACAGTGACATTGCCCTCACCATGATCCCT
CTCCAAAGTGGTTGTCTTTYTTTACCTTGTGTCTTCTCTTGTAAAAATGAAACTCAAAAATAAAATAAATGTGTCAAATTTTGAAAAAAAAAGAAAACTG
AAAAAGCTAACATGAATTGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTATSTTGAATTTGTTAATGCMCCACACA
AGTGCAAAATAAAGACTGATTCACATTACATAGGCA

Protein Sequence    (SEQ ID NO:783):
MAEITNIRPSFDVSPVVAGLIGASVLVVCVSVTVFVWSCCHQQAEKKHKNPPYKFIHMLKGISIYPETLSNKKKIIKVRRDKDGPGREGGRRNLLVDAAE
AGLLSRDKDPRGPSSGSCIDQLPIKMDYGEELRSPITSLTPGESKTTSPSSPEEDVMLGSLTFSVDYNFPKKALVVTIQEAHGLPVMDDQTQGSDPYIKM
TILPDKRHRVKTRVLRKTLDPVFDETFTFYGIPYSQLQDLVLHFLVLSFDRFSRDDVIGEVMVPLAGVDPSTGKVQLTRDIIKRNIQKCISRGELQVSLS
YQPVAQRMTVVVLKARHLPKMDITGLSGNPYVKVNVYYGRKRIAKKKTHVKKCTLNPIFNESFIYDIPTDLLPDISIEFLVIDFDRTTKNEVVGRLILGA
HSVTASGAEHWREVCESPRKPVAKWHSLSEY


SNP Information

Context             (SEQ ID NO:2808):
ACTTGCATGTCTAATACAAACTGAAGAAATTAGCCTAACTGCCAATATCAAGTTGCAGATTTTAATCCATGGAAATTGTGTTTTGTGCTGAATTGTATTT
K
CTGATTACCTGAAATTGGCTTCTTTTTATTGGGCTTCTCTGGAGAATTTCTCCCACTCCCCACCTCTGCAGAAGAAAATTTTGCTCTTATAAAACCTCAT
Celera SNP ID:            hCV27490623
SNP Position Transcript:  2254
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,85|G,1402)   total(G,1402|T,85) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2809):
GAGAGGGAATAACGCAGGTCCCTTTTCTTGGAAGGCTTGTACTATGGCCATGACAGTGACATTGCCCTCACCATGATCCCTCTCCAAAGTGGTTGTCTTT
Y
TTTACCTTGTGTCTTCTCTTGTAAAAATGAAACTCAAAAATAAAATAAATGTGTCAAATTTTGAAAAAAAAAGAAAACTGAAAAAGCTAACATGAATTGT
Celera SNP ID:            hCV11341169
SNP Position Transcript:  5020
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2810):
GACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGCCTCGGTACTGACCGAGGGTTCCCAGAGCTGTCT
Y
ACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACCTAGCTTTGATGTGTCACCGGTGGTGGCCGGCCT
Celera SNP ID:            hCV9102201
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,21|T,17)   total(C,53|T,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;JBIC-allele(C,350|T,1125)   total(C,350|T,1125)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2811):
CATCATCTCCAGAGGAGGATGTCATGCTAGGATCCCTCACCTTCTCAGTGGACTATAACTTCCCGAAAAAAGCCCTGGTGGTGACAATCCAGGAGGCCCA
Y
GGGCTGCCAGTGATGGATGACCAGACCCAGGGATCTGACCCCTACATCAAAATGACCATCCTTCCTGACAAACGGCATCGGGTGAAGACCAGAGTGCTGC
Celera SNP ID:            hCV9630770
SNP Position Transcript:  795
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,40)   total(C,69|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:783, 182, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:783, 182, (H,CAC)   (H,CAT)      182, (H,CAT)   (H,CAC)      



Context             (SEQ ID NO:2812):
GGCGGAGCCTACCTCTCATCAGGACCAGTCTGACTGCACCTGCATCCTTAGCTCAG
M
GCATCCCCGGAGCATCTTAAGAGCTGAGCGCAGCTGACAACTAGGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAG
Celera SNP ID:            hCV9630763
SNP Position Transcript:  57
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32)   total(A,58|C,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None

SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,5)   caucasian(A,38)   total(A,65|C,5)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2813):
TTGGCTTCTTTTTATTGGGCTTCTCTGGAGAATTTCTCCCACTCCCCACCTCTGCAGAAGAAAATTTTGCTCTTATAAAACCTCATGTTTTCATCATTCC
Y
ATCTTTTCTTTTTATTGCCTCTTATATCTCTGCTCTTTGACCTCAAGGTCTAGAGGTCTGCAGTAAGCCAAGAAACAAAGGTGGGGTGGATGAGGCAAGG
Celera SNP ID:            hCV3138037
SNP Position Transcript:  2369
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,7|C,9)      total(C,9|T,7) ;JBIC-allele(T,301|C,1180)   total(C,1180|T,301)   no_pop(T,-|C,-)   Caucasian(C,20|T,60)   African-American(T,21|C,59)   no_pop(C,-|T,-)   total(C,79|T,81) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2814):
AAATTTTGAAAAAAAAAGAAAACTGAAAAAGCTAACATGAATTGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTAT
S
TTGAATTTGTTAATGCACCACACAAGTGCAAAATAAAGACTGATTCACATTACATAGGCA
Celera SNP ID:            hCV27470759
SNP Position Transcript:  5176
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:783, None   



Context             (SEQ ID NO:2815):
TAAGAGCTGAGCGCAGCTGACAACTAGGGGCCGGACCGTCGCAGGAGGCGTCCGCTGGATACCTTCCCCCTTCCCTGACCTAGAGCTCTACAGCTGCTGC
S
TCGGTACTGACCGAGGGTTCCCAGAGCTGTCTCACCATTGCAAAAACGTTATAGCAACAGCCTCTGATTACGACATGGCTGAGATCACCAATATCCGACC
Celera SNP ID:            hCV25645839
SNP Position Transcript:  175
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:783, None



Context             (SEQ ID NO:2816):
CGGTGGTGGCCGGCCTCATCGGGGCCTCTGTGCTGGTGGTGTGTGTCTCGGTGACCGTCTTTGTCTGGTCATGCTGCCACCAGCAGGCAGAGAAGAAGCA
S
AAGAACCCACCATACAAGTTTATTCACATGCTCAAAGGCATCAGCATATACCCAGAGACCCTCAGCAACAAGAAGAAAATCATCAAAGTGCGGAGAGACA
Celera SNP ID:            hCV9630769
SNP Position Transcript:  393
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:783, 48, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:2817):
GAAAACTGAAAAAGCTAACATGAATTGTGTGAAATTGCATAATGCTGTAATGCTAATCTACAATATGTAATGCTATCTTGTATGTTGAATTTGTTAATGC
M
CCACACAAGTGCAAAATAAAGACTGATTCACATTACATAGGCA
Celera SNP ID:            hCV9632015
SNP Position Transcript:  5193
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:783, None   



Gene Number:                 41
Celera Gene:                 hCG1723753 - 148000117677850
Celera Transcript:           hCT1761729 - 148000117677851
Public Transcript Accession: NM_000686
Celera Protein:              hCP1707418 - 197000069432294
Public Protein Accession:    NP_000677
Gene Symbol:                 AGTR2
Protein Name:                angiotensin II receptor, type 2;AT2
Celera Genomic Axis:         GA_x5YUV32VSB2(381238..385056)
Chromosome:                  ChrX
OMIM number:                 300034
OMIM Information:            ANGIOTENSIN II RECEPTOR, TYPE 2;AGTR2


Transcript Sequence (SEQ ID NO:87):
ACGTCCCAGCGTCTGAGAGAACGAGTAAGCACAGAATTCAAAGCATTCTGCAGCCTGAATTTTGAAGGAGTGTGTTTAGGCACTAAGCAAGCTGATTTAT
GATAACTGCTTTAAACTTCAACAACCAAAGGCATAAGAACTAGGAGCTGCTGACATTTCAATATGAAGGGCAACTCCACCCTTGCCACTACTAGCAAAAA
CATTACCAGCGGTCTTCACTTCGKGCTTGTGAACATCTCTGGCAACAATGAGTCTACCTTGAACTGTTCACAGAAACCATCAGATAAGCATTTAGATGCA
ATTCCTATTCTTTACTACATTATATTTGTAATTGGATTTCTGGTCAATATTGTCGTGGTTACACTGTTTTGTTGTCAAAAGGGTCCTAAAAAGGTTTCTA
GCATATACATCTTCAACCTCGCTGTGGCTGATTTACTCCTTTTGGCTACTCTTCCTCTATGGGCAACCTATTATTCTTATAGATATGACTGGCTCTTTGG
ACCTGTGATGTGCAAAGTTTTTGGTTCTTTTCTTACCCTGAACATGTTTGCAAGCATTTTTTTTATCACCTGCATGAGTGTTGATAGGTACCAATCTGTC
ATCTACCCCTTTCTGTCTCAAAGAAGAAATCCCTGGCAAGCATCTTATATAGTTCCCCTYGTTTGGTGTATGGCCTGTTTGTCCTCATTGCCAACATTTT
ATTTTCGAGACGTCAGAACCATTGAATACTTAGGAGTGAATGCTTGCATTATGGCTTTCCCACCTGAGAAATATGCCCAATGGTCAGCTGGGATTGCCTT
AATGAAAAATATCCTTGGTTTTATTATCCCTTTAATATTCATAGCAACATGCYATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGGAAG
AACARGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCYGTTGTTCTGGCCTTCATCATTTGSTGGCTTCYCTTCCATGTTCTGACCTTCCTGGATG
CTCTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAGCAGTCATTGACCTGGCACTTCCTTTTGCCATCCTCTTGGGATTCACCAACAGCTGCGT
TAATCCGTTTCTGTATTGTTTTGTTGGAAACCRGTTCCAACAGAAGCTCCGCAGTGTGTTTAGGGTTCCARTTACTTGGCTCCAAGGGAAAAGAGAGAGT
ATGTCTTGCCGGAAAAGCAGTTCTCTTAGAGAAATGGAGACCTTTGTGTCTTAAACGTGAGAGCAAAATGCATGTAATCAACATGGCTACTTGCTTTGAG
GCTCACCAGAATTATTTTTAAGTGGTTTTAATAAAATAATAAAATTTCCCCTAATCTTTTCTGAATCTTCTGAAACCAAATGTAACTATGTTTTATCGTC
CAGTGACTTTCAGGAATTGCCCATTGTTTTTCTGATATGTTTGTACAAGATTKTCATTRGTGAGACATATTTACAACCTAGAAGTAACTGGTGATATATC
TCAAATTGTAATTAATAATAGATTGTGAATAATGATTTGGGGATTCAGATTTCTCTTTGAAACATGCTTGTGTTTCTTAGTGGGGTTTTATATCCATTTT
TATCAGGATTTCCTCTTGAACCAGAACCAGTCTTTCAACTCATTGCATCATTTACAAGACAACATTGTAAGAGAGATGAGCACTTCTAAGTTGAGTATAT
TATAATAGATTAGTACTGGATTATTCAGGCTTTAGGCATATGCTTCTTTAAAAAMGCTATAAATTATATTCCTCTTGCATTTCACTTGAGTGGAGGTTTA
TAGTTAATCTATAACTACATATTGAATAGGGCTAGGAATATAGATTAAATCATACTCCTATGCTTTAGCTTATTTTTACAGTTATAGAAAGCAAGATGTA
CTATAACATAGAATTGCAATCTATAATATTTGTGTGTTCACTAAACTCTGAATAAGCACTTTTTAAAAAACTTTCTACTCATTTTAATGATTGTTTAAAG
GTTTCTATTTTCTCTGATACTTTTTTGAAATCAGTAAACACTGTGTATTGTTGTAAAATGTAAAGGTCACTTTTCACATCCTTGACTTTTTAGATGTGCT
GCTTTGATATATAGGACATTGATTTGATTTTTATTATTAATGCTTTGGTTCTGGGTTGTTTCCTAAAATATCTGGGTGGCTTAAAAAAAACTCTTTAACT
TGTAATAAACCCTTAACTGGCATAGGAAATGGTATCCAGAATGGAATTTTGCTACATGGGGTCTGGGTGGGGGCAAAGAGACCCAGTCAATTACATGTTT
GGTACCAAGAAAGGAACCTGTCAGGGCAGTACAATGTGACTTTGAAAATATATACCSTGGGGGTAGTTTTACCCTATATCTATAAACACTGTTTGTTCCA
GAATCTGTATGATTCTATGGAGCTATTTTAAACCAATTGCAGGTCTAGA

Protein Sequence    (SEQ ID NO:784):
MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSSIYIFNLAVADLLLLATLPLW
ATYYSYRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQASYIVPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFP
PEKYAQWSAGIALMKNILGFIIPLIFIATCYFGIRKHLLKTNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLAL
PFAILLGFTNSCVNPFLYCFVGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMETFVS


SNP Information

Context             (SEQ ID NO:2818):
CAAGACAACATTGTAAGAGAGATGAGCACTTCTAAGTTGAGTATATTATAATAGATTAGTACTGGATTATTCAGGCTTTAGGCATATGCTTCTTTAAAAA
M
GCTATAAATTATATTCCTCTTGCATTTCACTTGAGTGGAGGTTTATAGTTAATCTATAACTACATATTGAATAGGGCTAGGAATATAGATTAAATCATAC
Celera SNP ID:            hCV1841568
SNP Position Transcript:  1755
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,2)   total(A,1|C,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:784, None   



Context             (SEQ ID NO:2819):
TGGGGTCTGGGTGGGGGCAAAGAGACCCAGTCAATTACATGTTTGGTACCAAGAAAGGAACCTGTCAGGGCAGTACAATGTGACTTTGAAAATATATACC
S
TGGGGGTAGTTTTACCCTATATCTATAAACACTGTTTGTTCCAGAATCTGTATGATTCTATGGAGCTATTTTAAACCAATTGCAGGTCTAGA
Celera SNP ID:            hCV1841569
SNP Position Transcript:  2357
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:784, None   



Context             (SEQ ID NO:2820):
GGCTTTCCCACCTGAGAAATATGCCCAATGGTCAGCTGGGATTGCCTTAATGAAAAATATCCTTGGTTTTATTATCCCTTTAATATTCATAGCAACATGC
Y
ATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGC
Celera SNP ID:            hCV27472627
SNP Position Transcript:  853
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 231, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:2821):
GAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTG
S
TGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCTCTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAGCAGTCATTGACCTGGCACTTCCTT
Celera SNP ID:            hCV7481832
SNP Position Transcript:  966
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 268, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:2822):
TTACTGAAGACGAATAGCTATGGGAAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTGCTGGCTTC
Y
CTTCCATGTTCTGACCTTCCTGGATGCTCTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAGCAGTCATTGACCTGGCACTTCCTTTTGCCATC
Celera SNP ID:            hCV27509039
SNP Position Transcript:  974
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 271, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:2823):
ACCAAAGGCATAAGAACTAGGAGCTGCTGACATTTCAATATGAAGGGCAACTCCACCCTTGCCACTACTAGCAAAAACATTACCAGCGGTCTTCACTTCG
K
GCTTGTGAACATCTCTGGCAACAATGAGTCTACCTTGAACTGTTCACAGAAACCATCAGATAAGCATTTAGATGCAATTCCTATTCTTTACTACATTATA
Celera SNP ID:            hCV27859427
SNP Position Transcript:  224
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 21, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:2824):
CATCCTCTTGGGATTCACCAACAGCTGCGTTAATCCGTTTCTGTATTGTTTTGTTGGAAACCGGTTCCAACAGAAGCTCCGCAGTGTGTTTAGGGTTCCA
R
TTACTTGGCTCCAAGGGAAAAGAGAGAGTATGTCTTGCCGGAAAAGCAGTTCTCTTAGAGAAATGGAGACCTTTGTGTCTTAAACGTGAGAGCAAAATGC
Celera SNP ID:            hCV27859428
SNP Position Transcript:  1171
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 337, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:2825):
TTTTTATCACCTGCATGAGTGTTGATAGGTACCAATCTGTCATCTACCCCTTTCTGTCTCAAAGAAGAAATCCCTGGCAAGCATCTTATATAGTTCCCCT
Y
GTTTGGTGTATGGCCTGTTTGTCCTCATTGCCAACATTTTATTTTCGAGACGTCAGAACCATTGAATACTTAGGAGTGAATGCTTGCATTATGGCTTTCC
Celera SNP ID:            hCV12122063
SNP Position Transcript:  660
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(C,4|T,76)      total(C,4|T,76) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:784, 166, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:2826):
GAAGTTATAGCAGTCATTGACCTGGCACTTCCTTTTGCCATCCTCTTGGGATTCACCAACAGCTGCGTTAATCCGTTTCTGTATTGTTTTGTTGGAAACC
R
GTTCCAACAGAAGCTCCGCAGTGTGTTTAGGGTTCCAATTACTTGGCTCCAAGGGAAAAGAGAGAGTATGTCTTGCCGGAAAAGCAGTTCTCTTAGAGAA
Celera SNP ID:            hCV25647418
SNP Position Transcript:  1133
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 324, (Q,CAG)   (R,CGG)   

SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 324, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:2827):
AAAAATATCCTTGGTTTTATTATCCCTTTAATATTCATAGCAACATGCTATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACA
R
GATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTGCTGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCTCTG
Celera SNP ID:            hCV12122064
SNP Position Transcript:  905
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:784, 248, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:2828):
TAGCAACATGCTATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGC
Y
GTTGTTCTGGCCTTCATCATTTGCTGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCTCTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAG
Celera SNP ID:            hCV12122065
SNP Position Transcript:  942
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(C,6|T,61)      total(C,6|T,61) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:784, 260, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:2829):
TTCTGAATCTTCTGAAACCAAATGTAACTATGTTTTATCGTCCAGTGACTTTCAGGAATTGCCCATTGTTTTTCTGATATGTTTGTACAAGATTGTCATT
R
GTGAGACATATTTACAACCTAGAAGTAACTGGTGATATATCTCAAATTGTAATTAATAATAGATTGTGAATAATGATTTGGGGATTCAGATTTCTCTTTG
Celera SNP ID:            hCV1841567
SNP Position Transcript:  1459
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,8)   caucasian(A,10|G,14)   total(A,28|G,22)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:784, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;32 white Americans; 2 CEPH individuals(A,20|G,47)      total(G,47|A,20);HYP2(A,20|G,48)   total(G,48|A,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:784, None   



Context             (SEQ ID NO:2830):
AATCTTTTCTGAATCTTCTGAAACCAAATGTAACTATGTTTTATCGTCCAGTGACTTTCAGGAATTGCCCATTGTTTTTCTGATATGTTTGTACAAGATT
K
TCATTAGTGAGACATATTTACAACCTAGAAGTAACTGGTGATATATCTCAAATTGTAATTAATAATAGATTGTGAATAATGATTTGGGGATTCAGATTTC
Celera SNP ID:            hCV11880452
SNP Position Transcript:  1453
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|G,4)      total(G,4|T,1) ;32 white Americans; 2 CEPH individuals(T,27|G,40)      total(G,40|T,27);HYP2(T,27|G,41)   total(G,41|T,27)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:784, None   



Gene Number:                 42
Celera Gene:                 hCG1729266 - 84000314192123
Celera Transcript:           hCT2308497 - 84000314192161
Public Transcript Accession: NM_003664
Celera Protein:              hCP1807480 - 197000064940121
Public Protein Accession:    NP_003655
Gene Symbol:                 AP3B1
Protein Name:                adaptor-related protein complex 3, beta 1 subunit;ADTB3;ADTB3A;HPS;HPS2
Celera Genomic Axis:         GA_x5YUV32W40L(6591619..6883142)
Chromosome:                  Chr5
OMIM number:                 603401
OMIM Information:            ADAPTIN, BETA-3A;AP3B1


Transcript Sequence (SEQ ID NO:88):
GAGAACTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACCCCGCACCCGCCAGCACCGCGGCAATGTCCAGC
AATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGGAGGCGACCTCAACCATTTCCCCCTCGGGGGCCTTCGGCCTCT
TTAGCAGCGATTTGAAGAAGAATGAAGATCTAAAGCAAATGTTAGAGAGCAACAAAGATTCTGCTAAACTGGATGCTATGAAGCGGATTGTTGGGATGAT
TGCAAAAGGGAAAAATGCATCTGAACTGTTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTT
CGATATGCTGAAGAACAGCAGGATCTTGYMCTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGA
GAGTTCTGTCAAGTATTAGAGTGCCAATTATTGTACCTATCATGATGCTTGCTATTAAGGAAGCTTCTGCTGACTTATCACCATATGTTAGGAAGAATGC
AGCCCATGCAATACAAAAATTATACAGCCTTGATCCAGAGCAGAAGGAAATGTTAATTGAAGTAATTGAAAAACTTCTGAAAGATAAAAGCACATTGGTA
GCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGCTRTGTAACTTACTAGTGGATGTTG
AAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGGAAAGAGGGTGATGAATTAGAAGACAATGG
AAAGAATTTCTACGAATCTGATGATGATCAGAAGGAAAAGACTGACAAAAAGAAGAAGCCGTATACTATGGATCCAGATCATAGACTCTTAATTAGAAAT
ACAAAGCCTTTGCTTCAGAGCAGGAATGCTGCGGTGGTTATGGCAGTTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTA
AATCACTAGTGCGTTTACTTCGTAGCAAYAGGGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAATTCAACTTGAAATTTTGACAAACTT
GGCAAATGAAGCCAACATATCAACTCTTCTTCGAGAATTTCAGACCTATGTGAAAAGCCAGGATAAACAATTTGCAGCAGCCACTATTCAGACTATAGGC
AGATGTGCAACCAACATCTTGGAAGTCACTGACACGTGCCTCAATGGCTTGGTCTGTCTGCTGTCCAACAGGGATGAAATAGTTGTTGCTGAAAGTGTGG
TTGTTATAAAGAAATTACTGCAAATGCAACCTGCACAACATGGTGAAATTATTAAACATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTGCTAG
AGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAAYGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGARGAT
GATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTYGGCA
AGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCKTATTGTTCCGAATGWAAAGAGTGGAGCTTTAAGTAAATATGCCAAAAA
AATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAGCTTGGCACCTTATCTCATACTCTCAACATTAAA
GCTACTGGGTACCTGGAATTATCTAATTGGCCAGAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACCCCAG
CAGGAAAAGCAAAGCAAGAGAATTCTGCYAAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATC
TGGAAGTGAAAGTGGAGAACAAGGYGAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGA
CGGGAGTCAGGCCTAGAAAACAAAAGAACAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAGYGATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTA
AAACTTCAGATTCTTCAAATGACGAATCTAGTTCAAWAGAAGACAGTTCTTCCGATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAG
AGTCACTAAGGAGAAAGAAAAGAAAACAAAGCAAGATAGAACTCCTCTTACCAAAGATGTTTCACTTCTAGATCTGGATGATTTTAACCCAGTATCCACT
CCAGTTGCACTTCCCACACCAGCTCTTTCTCCAAGTTTGATGGCTGATCTTGAAGGTTTACACTTGTCAACTTCCTCTTCAGTCATCAGTGTCAGTACTC
CTGCATTTGTACCAACGAAAACTCACGTGCTGCTTCATCGAATGAGTGGAAAAGGACTAGCTGCCCATTATTTCTTTCCAAGACAGCCTTGCATTTTTGG
TGATAAGATGGTCTCTATACAAATAACACTGAATAACACTACTGATCGAAAGATAGAAAATATCCACATAGGGGAAAAAAAACTTCCTATAGGCATGAAA
ATGCATGTTTTTAATCCAATAGACTCTCTTGAGCCTGAGGGATCCATTACAGTTTCAATGGGTATTGACTTTTGTGATTCTACTCAGACTGCYAGTTTCC
AGTTGTGTACCAAGGATGATTGCTTCAATGTTAATATTCAGCCACCTGTTGGAGAACTGCTTTTACCTGTGGCCATGTCAGAGAAAGATTTTAAGAAAGA
GCAAGGAGTGCTAACAGGAATGAATGAAACTTCTGCTGTAATCATTGCTGCACCACAGAATTTCACTCCCTCTGTGATCTTTCAGAAGGTTGTAAATGTA
GCCAATGTAGGTGCAGTCCCTTCTGGCCAGGATAATATACACAGGTTTGCAGCTAAAACTGTGCACAGTGGGTCATTGATGCTAGTCACAGTGGAACTGA
AGGAAGGCTCTACAGCCCARCTTATCATAAACACTGAGAAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAACC
TGCTTACATCTGGACTTTAGAATCTGGCACACAACAAARGTGCCTGGCATCCACTACTGCTGCCTTTCATTTATAATAATAGCCCTTCCATCTGGCAGTG
GGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTTAGAATGCTAGTGTGTATCTATCATGTATGCAATACTTTCCCCCTTTTTGYTTTGCTAACCA
AAGAGCATATATTTTACTGTCAGTTGTCTCAACTCTTGAATCCATGTGGCGTTTTCTCTGTCCTGCTGCTTCTTTTGGCCTCCTCGTTTTCCTTCTCTTT
TTCGACAATGGTAGACATGAATGAGATATTTAAAGTTCATTGGAAATCTTCTTCCCTACAGCAGTAAGCAAAAATTAGCAAAGAGATAGTCTAAATGGCC
TCTCAGCTTKGTATGTGAAAATGAGATCACATACTTTTTAAATCCAAATACAAAAGCATAGTCTCTGCAAGATTTTGTTCTTTGAATTTCTTGATATTGT
AATTGATTATTGATAACTGTCATCATGAAATTATCTCTCAATAATAAGATAAATAAACTAGCATATGAATCATATTTGTCTTTGCATTTTTAATGAGAAA
CTATTAATAATCCTGAAGTTCATATGCTAAAGTTTTCTTATTTTAAAGCAAGTATTTTGAGTGTTACATTATGCAGAGAAGCAATGTGGTTTAGTTAGCG
AAAGAAAAACCACTTCCAAACCAAGTAAATTTTCTACTTATAGTTTACTCCAAGGAAAAAAAATTGGTGTATTTAATAACAAAAACAAAAATCTTCATAT
TGCAAAA

Protein Sequence    (SEQ ID NO:785):
MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYV
YLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKS
TLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLL
IRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQ
TIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFT
SEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTL
NIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDS
ESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNP
VSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPI
GMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKV
VNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG


SNP Information

Context             (SEQ ID NO:2831):
AACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGC
K
TATTGTTCCGAATGAAAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGAT
Celera SNP ID:            hCV27537241
SNP Position Transcript:  1752
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 554, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:2832):
CTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAACGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGA
R
GATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTCG
Celera SNP ID:            hCV15758402
SNP Position Transcript:  1597
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 502, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2833):
CATCTGGCAGTGGGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTTAGAATGCTAGTGTGTATCTATCATGTATGCAATACTTTCCCCCTTTTTG
Y
TTTGCTAACCAAAGAGCATATATTTTACTGTCAGTTGTCTCAACTCTTGAATCCATGTGGCGTTTTCTCTGTCCTGCTGCTTCTTTTGGCCTCCTCGTTT
Celera SNP ID:            hCV29091287
SNP Position Transcript:  3489
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:785, None   



Context             (SEQ ID NO:2834):
GGCCAGAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACCCCAGCAGGAAAAGCAAAGCAAGAGAATTCTGC
Y
AAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGGCGAAA
Celera SNP ID:            hCV978291
SNP Position Transcript:  2029
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,27)   caucasian(C,8|T,32)   total(C,13|T,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 646, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(C,113|T,1160)   total(C,113|T,1160)   SC_12_A(C,0|T,15)   SC_12_C(C,9|T,15)   SC_12_AA(C,6|T,7)   SC_95_C(C,53|T,130)   total(C,68|T,167) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 646, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:2835):
TGAAAGATAAAAGCACATTGGTAGCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGCT
R
TGTAACTTACTAGTGGATGTTGAAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGGAAAGAGG
Celera SNP ID:            hCV25645903
SNP Position Transcript:  778
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,3)   caucasian(A,40)   total(A,69|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 229, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:2836):
AAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCT
Y
GGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATGAAAAGAGTGGAGCTTTAAGTAAATATGCCA
Celera SNP ID:            hCV25644770
SNP Position Transcript:  1696
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,3)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 535, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2837):
CTGCGGTGGTTATGGCAGTTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTAAATCACTAGTGCGTTTACTTCGTAGCAA
Y
AGGGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAATTCAACTTGAAATTTTGACAAACTTGGCAAATGAAGCCAACATATCAACTCTTC
Celera SNP ID:            hCV25644756
SNP Position Transcript:  1129
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,29)   total(C,16|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 346, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 346, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:2838):
AGGAACTCAAAAGCCAAAGGAAAAAGTGATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAA
W
AGAAGACAGTTCTTCCGATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAGAGTCACTAAGGAGAAAGAAAAGAAAACAAAGCAAGAT
Celera SNP ID:            hCV25644782
SNP Position Transcript:  2337
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,31)   caucasian(T,34)   total(A,1|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 749, (K,AAA)   (I,ATA)   



Context             (SEQ ID NO:2839):
GTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAAGAACAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAG
Y
GATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAATAGAAGACAGTTCTTCCGATTCTGAAT
Celera SNP ID:            hCV25644783
SNP Position Transcript:  2263
SNP Source:               Applera
Population(Allele,Count): african american(T,26)   caucasian(C,2|T,26)   total(C,2|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 724, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:2840):
AAATTGCTTACCCAGTACATATTAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATG
W
AAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAG
Celera SNP ID:            hCV25644769
SNP Position Transcript:  1767
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,37|T,1)   total(A,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 559, (E,GAA)   (V,GTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 559, (E,GAA)   (V,GTA)      



Context             (SEQ ID NO:2841):
GCATGAAAATGCATGTTTTTAATCCAATAGACTCTCTTGAGCCTGAGGGATCCATTACAGTTTCAATGGGTATTGACTTTTGTGATTCTACTCAGACTGC
Y
AGTTTCCAGTTGTGTACCAAGGATGATTGCTTCAATGTTAATATTCAGCCACCTGTTGGAGAACTGCTTTTACCTGTGGCCATGTCAGAGAAAGATTTTA
Celera SNP ID:            hCV25644794
SNP Position Transcript:  2893
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 934, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:2842):
GGTAGACATGAATGAGATATTTAAAGTTCATTGGAAATCTTCTTCCCTACAGCAGTAAGCAAAAATTAGCAAAGAGATAGTCTAAATGGCCTCTCAGCTT
K
GTATGTGAAAATGAGATCACATACTTTTTAAATCCAAATACAAAAGCATAGTCTCTGCAAGATTTTGTTCTTTGAATTTCTTGATATTGTAATTGATTAT
Celera SNP ID:            hCV7602303
SNP Position Transcript:  3710
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:785, None   



Context             (SEQ ID NO:2843):
CTTCTGGCCAGGATAATATACACAGGTTTGCAGCTAAAACTGTGCACAGTGGGTCATTGATGCTAGTCACAGTGGAACTGAAGGAAGGCTCTACAGCCCA
R
CTTATCATAAACACTGAGAAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAACCTGCTTACATCTGGACTTTAG
Celera SNP ID:            hCV25644795
SNP Position Transcript:  3220
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 1043, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:2844):
AAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAACCTGCTTACATCTGGACTTTAGAATCTGGCACACAACAAA
R
GTGCCTGGCATCCACTACTGCTGCCTTTCATTTATAATAATAGCCCTTCCATCTGGCAGTGGGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTT
Celera SNP ID:            hCV25644796
SNP Position Transcript:  3339
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:785, None



Context             (SEQ ID NO:2845):
CTGCTAAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGG
Y
GAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAA
Celera SNP ID:            hCV25644797
SNP Position Transcript:  2125
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 678, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:2846):
ACATGGTGAAATTATTAAACATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTGCTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAA
Y
GAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGAAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAA
Celera SNP ID:            hCV27531176
SNP Position Transcript:  1538
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 483, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:2847):
TTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTG
Y
ACTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCAAGTATTAGAGTGCCAATT
Celera SNP ID:            hCV25644798
SNP Position Transcript:  429
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,18|T,4)   total(C,50|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:785, 113, (A,GCA)   (V,GTA)   



Context             (SEQ ID NO:2848):
TTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTGC
M
CTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCAAGTATTAGAGTGCCAATTA
Celera SNP ID:            hCV25644799
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,28)   total(A,58|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 113, (A,GCA)   (A,GCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:785, 113, (A,GCA)   (A,GCC)      



Gene Number:                 42
Celera Gene:                 hCG1729266 - 84000314192123
Celera Transcript:           hCT1767038 - 84000314192124
Public Transcript Accession: NM_003664
Celera Protein:              hCP1738177 - 197000064940119
Public Protein Accession:    NP_003655
Gene Symbol:                 AP3B1
Protein Name:                adaptor-related protein complex 3, beta 1 subunit;ADTB3;ADTB3A;HPS;HPS2
Celera Genomic Axis:         GA_x5YUV32W40L(6591619..6883142)
Chromosome:                  Chr5
OMIM number:                 603401
OMIM Information:            ADAPTIN, BETA-3A;AP3B1


Transcript Sequence (SEQ ID NO:89):
GAGAACTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACCCCGCACCCGCCAGCACCGCGGCAATGTCCAGC
AATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGGAGGCGACCTCAACCATTTCCCCCTCGGGGGCCTTCGGCCTCT
TTAGCAGCGATTTGAAGAAGAATGAAGATCTAAAGCAAATGTTAGAGAGCAACAAAGATTCTGCTAAACTGGATGCTATGAAGCGGATTGTTGGGATGAT
TGCAAAAGGGAAAAATGCATCTGAACTGTTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTT
CGATATGCTGAAGAACAGCAGGATCTTGYMCTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGA
GAGTTCTGTCAAGTATTAGAGTGCCAATTATTGTACCTATCATGATGCTTGCTATTAAGGAAGCTTCTGCTGACTTATCACCATATGTTAGGAAGAATGC
AGCCCATGCAATACAAAAATTATACAGCCTTGATCCAGAGCAGAAGGAAATGTTAATTGAAGTAATTGAAAAACTTCTGAAAGATAAAAGCACATTGGTA
GCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGCTRTGTAACTTACTAGTGGATGTTG
AAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGGAAAGAGGGTGATGAATTAGAAGACAATGG
AAAGAATTTCTACGAATCTGATGATGATCAGAAGGAAAAGACTGACAAAAAGAAGAAGCCGTATACTATGGATCCAGATCATAGACTCTTAATTAGAAAT
ACAAAGCCTTTGCTTCAGAGCAGGAATGCTGCGGTGGTTATGGCAGTTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTA
AATCACTAGTGCGTTTACTTCGTAGCAAYAGGGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAATTCAAAGAGCTTGAAATTTTGACAA
ACTTGGCAAATGAAGCCAACATATCAACTCTTCTTCGAGAATTTCAGACCTATGTGAAAAGCCAGGATAAACAATTTGCAGCAGCCACTATTCAGACTAT
AGGCAGATGTGCAACCAACATCTTGGAAGTCACTGACACGTGCCTCAATGGCTTGGTCTGTCTGCTGTCCAACAGGGATGAAATAGTTGTTGCTGAAAGT
GTGGTTGTTATAAAGAAATTACTGCAAATGCAACCTGCACAACATGGTGAAATTATTAAACATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTG
CTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAAYGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGA
RGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTY
GGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCKTATTGTTCCGAATGWAAAGAGTGGAGCTTTAAGTAAATATGCCA
AAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAGCTTGGCACCTTATCTCATACTCTCAACAT
TAAAGCTACTGGGTACCTGGAATTATCTAATTGGCCAGAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACC
CCAGCAGGAAAAGCAAAGCAAGAGAATTCTGCYAAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTG
AATCTGGAAGTGAAAGTGGAGAACAAGGYGAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAG
TGGACGGGAGTCAGGCCTAGAAAACAAAAGAACAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAGYGATTCTGAAGATGGGGAGAAGGAAAATGAAAAA
TCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAAWAGAAGACAGTTCTTCCGATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCA
GAAGAGTCACTAAGGAGAAAGAAAAGAAAACAAAGCAAGATAGAACTCCTCTTACCAAAGATGTTTCACTTCTAGATCTGGATGATTTTAACCCAGTATC
CACTCCAGTTGCACTTCCCACACCAGCTCTTTCTCCAAGTTTGATGGCTGATCTTGAAGGTTTACACTTGTCAACTTCCTCTTCAGTCATCAGTGTCAGT
ACTCCTGCATTTGTACCAACGAAAACTCACGTGCTGCTTCATCGAATGAGTGGAAAAGGACTAGCTGCCCATTATTTCTTTCCAAGACAGCCTTGCATTT
TTGGTGATAAGATGGTCTCTATACAAATAACACTGAATAACACTACTGATCGAAAGATAGAAAATATCCACATAGGGGAAAAAAAACTTCCTATAGGCAT
GAAAATGCATGTTTTTAATCCAATAGACTCTCTTGAGCCTGAGGGATCCATTACAGTTTCAATGGGTATTGACTTTTGTGATTCTACTCAGACTGCYAGT
TTCCAGTTGTGTACCAAGGATGATTGCTTCAATGTTAATATTCAGCCACCTGTTGGAGAACTGCTTTTACCTGTGGCCATGTCAGAGAAAGATTTTAAGA
AAGAGCAAGGAGTGCTAACAGGAATGAATGAAACTTCTGCTGTAATCATTGCTGCACCACAGAATTTCACTCCCTCTGTGATCTTTCAGAAGGTTGTAAA
TGTAGCCAATGTAGGTGCAGTCCCTTCTGGCCAGGATAATATACACAGGTTTGCAGCTAAAACTGTGCACAGTGGGTCATTGATGCTAGTCACAGTGGAA
CTGAAGGAAGGCTCTACAGCCCARCTTATCATAAACACTGAGAAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGT
AACCTGCTTACATCTGGACTTTAGAATCTGGCACACAACAAARGTGCCTGGCATCCACTACTGCTGCCTTTCATTTATAATAATAGCCCTTCCATCTGGC
AGTGGGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTTAGAATGCTAGTGTGTATCTATCATGTATGCAATACTTTCCCCCTTTTTGYTTTGCTA
ACCAAAGAGCATATATTTTACTGTCAGTTGTCTCAACTCTTGAATCCATGTGGCGTTTTCTCTGTCCTGCTGCTTCTTTTGGCCTCCTCGTTTTCCTTCT
CTTTTTCGACAATGGTAGACATGAATGAGATATTTAAAGTTCATTGGAAATCTTCTTCCCTACAGCAGTAAGCAAAAATTAGCAAAGAGATAGTCTAAAT
GGCCTCTCAGCTTKGTATGTGAAAATGAGATCACATACTTTTTAAATCCAAATACAAAAGCATAGTCTCTGCAAGATTTTGTTCTTTGAATTTCTTGATA
TTGTAATTGATTATTGATAACTGTCATCATGAAATTATCTCTCAATAATAAGATAAATAAACTAGCATATGAATCATATTTGTCTTTGCATTTTTAATGA
GAAACTATTAATAATCCTGAAGTTCATATGCTAAAGTTTTCTTATTTTAAAGCAAGTATTTTGAGTGTTACATTATGCAGAGAAGCAATGTGGTTTAGTT
AGCGAAAGAAAAACCACTTCCAAACCAAGTAAATTTTCTACTTATAGTTTACTCCAAGGAAAAAAAATTGGTGTATTTAATAACAAAAACAAAAATCTTC
ATATTGCAAAA

Protein Sequence    (SEQ ID NO:786):
MQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDI
RDRTRFIRQLIVPNEKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQEN
SAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSND
ESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKT
HVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDC
FNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQL
IINTEKTVIGSVLLRELKPVLSQG


SNP Information

Context             (SEQ ID NO:2849):
AACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGC
K
TATTGTTCCGAATGAAAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGAT
Celera SNP ID:            hCV27537241
SNP Position Transcript:  1756
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:786, 110, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:2850):
CTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAACGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGA
R
GATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTCG
Celera SNP ID:            hCV15758402
SNP Position Transcript:  1601
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 58, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:2851):
CATCTGGCAGTGGGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTTAGAATGCTAGTGTGTATCTATCATGTATGCAATACTTTCCCCCTTTTTG
Y
TTTGCTAACCAAAGAGCATATATTTTACTGTCAGTTGTCTCAACTCTTGAATCCATGTGGCGTTTTCTCTGTCCTGCTGCTTCTTTTGGCCTCCTCGTTT
Celera SNP ID:            hCV29091287
SNP Position Transcript:  3493
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:786, None   



Context             (SEQ ID NO:2852):
TGAAAGATAAAAGCACATTGGTAGCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGCT
R
TGTAACTTACTAGTGGATGTTGAAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGGAAAGAGG
Celera SNP ID:            hCV25645903
SNP Position Transcript:  778
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,3)   caucasian(A,40)   total(A,69|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None



Context             (SEQ ID NO:2853):
GGCCAGAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACCCCAGCAGGAAAAGCAAAGCAAGAGAATTCTGC
Y
AAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGGCGAAA
Celera SNP ID:            hCV978291
SNP Position Transcript:  2033
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,27)   caucasian(C,8|T,32)   total(C,13|T,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 202, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(C,113|T,1160)   total(C,113|T,1160)   SC_12_A(C,0|T,15)   SC_12_C(C,9|T,15)   SC_12_AA(C,6|T,7)   SC_95_C(C,53|T,130)   total(C,68|T,167) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 202, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:2854):
AAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCT
Y
GGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATGAAAAGAGTGGAGCTTTAAGTAAATATGCCA
Celera SNP ID:            hCV25644770
SNP Position Transcript:  1700
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,3)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 91, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:2855):
CTGCGGTGGTTATGGCAGTTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTAAATCACTAGTGCGTTTACTTCGTAGCAA
Y
AGGGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAATTCAAAGAGCTTGAAATTTTGACAAACTTGGCAAATGAAGCCAACATATCAACT
Celera SNP ID:            hCV25644756
SNP Position Transcript:  1129
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,9|T,29)   total(C,16|T,60)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None   



Context             (SEQ ID NO:2856):
AGGAACTCAAAAGCCAAAGGAAAAAGTGATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAA
W
AGAAGACAGTTCTTCCGATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAGAGTCACTAAGGAGAAAGAAAAGAAAACAAAGCAAGAT
Celera SNP ID:            hCV25644782
SNP Position Transcript:  2341
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,31)   caucasian(T,34)   total(A,1|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:786, 305, (K,AAA)   (I,ATA)   



Context             (SEQ ID NO:2857):
GTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAAGAACAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAG
Y
GATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAATAGAAGACAGTTCTTCCGATTCTGAAT
Celera SNP ID:            hCV25644783
SNP Position Transcript:  2267
SNP Source:               Applera
Population(Allele,Count): african american(T,26)   caucasian(C,2|T,26)   total(C,2|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 280, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:2858):
AAATTGCTTACCCAGTACATATTAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATG
W
AAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAG
Celera SNP ID:            hCV25644769
SNP Position Transcript:  1771
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,37|T,1)   total(A,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:786, 115, (E,GAA)   (V,GTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:786, 115, (E,GAA)   (V,GTA)      



Context             (SEQ ID NO:2859):
GCATGAAAATGCATGTTTTTAATCCAATAGACTCTCTTGAGCCTGAGGGATCCATTACAGTTTCAATGGGTATTGACTTTTGTGATTCTACTCAGACTGC
Y
AGTTTCCAGTTGTGTACCAAGGATGATTGCTTCAATGTTAATATTCAGCCACCTGTTGGAGAACTGCTTTTACCTGTGGCCATGTCAGAGAAAGATTTTA
Celera SNP ID:            hCV25644794
SNP Position Transcript:  2897
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 490, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:2860):
GGTAGACATGAATGAGATATTTAAAGTTCATTGGAAATCTTCTTCCCTACAGCAGTAAGCAAAAATTAGCAAAGAGATAGTCTAAATGGCCTCTCAGCTT
K
GTATGTGAAAATGAGATCACATACTTTTTAAATCCAAATACAAAAGCATAGTCTCTGCAAGATTTTGTTCTTTGAATTTCTTGATATTGTAATTGATTAT
Celera SNP ID:            hCV7602303
SNP Position Transcript:  3714
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:786, None   



Context             (SEQ ID NO:2861):
CTTCTGGCCAGGATAATATACACAGGTTTGCAGCTAAAACTGTGCACAGTGGGTCATTGATGCTAGTCACAGTGGAACTGAAGGAAGGCTCTACAGCCCA
R
CTTATCATAAACACTGAGAAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAACCTGCTTACATCTGGACTTTAG
Celera SNP ID:            hCV25644795
SNP Position Transcript:  3224
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 599, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:2862):
AAAACTGTGATTGGCTCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAACCTGCTTACATCTGGACTTTAGAATCTGGCACACAACAAA
R
GTGCCTGGCATCCACTACTGCTGCCTTTCATTTATAATAATAGCCCTTCCATCTGGCAGTGGGGGTAGAATACACTCTTGACATTCTTGTCTCCTGCTTT
Celera SNP ID:            hCV25644796
SNP Position Transcript:  3343
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:786, None



Context             (SEQ ID NO:2863):
CTGCTAAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGG
Y
GAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAA
Celera SNP ID:            hCV25644797
SNP Position Transcript:  2129
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:786, 234, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:2864):
ACATGGTGAAATTATTAAACATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTGCTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAA
Y
GAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGAAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAA
Celera SNP ID:            hCV27531176
SNP Position Transcript:  1542
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:786, 39, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:2865):
TTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTG
Y
ACTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCAAGTATTAGAGTGCCAATT
Celera SNP ID:            hCV25644798
SNP Position Transcript:  429
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,18|T,4)   total(C,50|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None



Context             (SEQ ID NO:2866):
TTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTGC
M
CTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCAAGTATTAGAGTGCCAATTA
Celera SNP ID:            hCV25644799
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,28)   total(A,58|C,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:786, None   



Gene Number:                 43
Celera Gene:                 hCG17353 - 64000127011174
Celera Transcript:           hCT2267112 - 64000127011202
Public Transcript Accession: NM_000602
Celera Protein:              hCP1904603 - 197000069467867
Public Protein Accession:    NP_000593
Gene Symbol:                 SERPINE1
Protein Name:                serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;PAI;PAI-1;PAI1;PLANH1
Celera Genomic Axis:         GA_x54KRFTLAET(180078..182202)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:90):
GCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTCYTGCAGCTCAGCAGCCGCCGCCAGA
GCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGTAGGAGAAAAKCAAACTCCCTCCAACCTCTTACTTCGGGCTTAAGGCAGAGAACTC
GCCTCCCCAGAATCTCCTCCCTCCATGATCCCCCRCTATTCCTCTATTTTCTTTTCCTCGGACCTGCAGCCTTGGGTCGACCCTGCCCTAGGGGTGACTG
CAGGAGAGCAGGGAGGATGGTCAGGCGTCACCAACAACCCCATCACCCAGTAACAAGAACYTTGACTCTCTCAGTCCCTCTGCATCAAGACACTTACCCA
TTTCCCACCTCATGCCTGCTAACTTGAATGAAACAATCGCTGGGAAAGCATTAAGAGAATTAAGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCAC
TTTGTGAGGCTGAGGCAGGCAGAYAWCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCTGCTCTCCCAAAAAAATACAAAAATTA
GCTGGGCGTGCTGGTGTGCCTGTATTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTCAGCTGGGGAGGCRGAGGCTGCAGGGAGCCAAGACTG
AGCCATTGCACCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAAAATRAATGAAAGGAAGGAAGAAAGAGAGAGAAAGAGAGAGAGGAAAGAAGGAA
GGAAGTAAAGAAGAAAGAAAGAAAGAAAGAGGAAAGAGGAAGAAAGAAAGAAAAGAAAGAAAAGAAAAKAAAGCAAATTTAAAGCTTATGCAAATCAAAG
ATGTTGTGATAATTGATAATTGAGTCTGGGCTAAATTCCCCCTGGGCTGCAAAGGCAGAGAGTGGTAATGACTTCTCACCTGCTTTTCTTCTAAGGCTTT
TTTACGGGACACAGAGGGAAGGGAGATGGACTGGATTCCAAGATTCCCACAGGGCAAGATGGGCGAAGACTCCCTGCCACTGCCCGGGGATAAGTCAGTC
TGAGTGAGACGGAGTRGGATGGGCTTAGAACCTGAACATGTCATGGTCTCTTCCTGCACCTTGCCCTAGTGTTCACTTACCACCTGCTTGCAGGAAACAA
GAAGAGCAGGGCCCACAGCTGGCCAGCTCCCCTCCCCTCCCRCCTGTCTTCCAGAACGATTCCTTCACCAGCCCTCTTTCCATTGCTCTAGGATGCAGAT
GTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGRCCCTTRTCTTTGGTGAAGGGTCTGCTGTGCMCCATCCCCCATCCTACGTGGCCCACCTGGCCTCA
GACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCACCCTATGGGGTGGCCTCGGTGTTGGCCATGCTCC
AGCTGACAACAGGAGGAGAAACCCAGCAGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGGTGAGCCACGGGACACCAGGGGAGGTGGGTGGCATGC
AGAACAGACCTACCAGAAGCCAAGGAAAGGCTGGCTCTGGCTTAGCCGAGCCAAGCCCCATACAGCTGTGCTGCAGGGGCCACCCCATCTTCTTCCCACT
ACACTCCAAGTCACTGGAYCCTTGAATCTCCAAGGGTGTCTGACCAGTAGATTTACYGCTTATTCACCACCGTGTGATCTTAACCTCGTTWAGTTTGCCC
ATCTACAAAATGAGGATTATTTGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCCVAGGMGGG
CGGATCATGAGGTCAGGAGATYRAGACCATCCTGGCYAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCRGGC
RCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGMGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGC
CTGGGCGACAGAGAGAGACTCCGT

Protein Sequence    (SEQ ID NO:787):
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDGEPRDTRGGG
WHAEQTYQKPRKGWLWLSRAKPHTAVLQGPPHLLPTTLQVTGPLNLQGCLTSRFTAYSPPCDLNLVKFAHLQNEDYLLS


SNP Information

Context             (SEQ ID NO:2867):
TCTCCCAAAAAAATACAAAAATTAGCTGGGCGTGCTGGTGTGCCTGTATTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTCAGCTGGGGAGGC
R
GAGGCTGCAGGGAGCCAAGACTGAGCCATTGCACCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAAAATGAATGAAAGGAAGGAAGAAAGAGAGAG
Celera SNP ID:            hCV15956198
SNP Position Transcript:  677
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2868):
TTGAATGAAACAATCGCTGGGAAAGCATTAAGAGAATTAAGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGCAGGCAGA
Y
AACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCTGCTCTCCCAAAAAAATACAAAAATTAGCTGGGCGTGCTGGTGTGCCTGTA
Celera SNP ID:            hCV15956210
SNP Position Transcript:  524
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|T,47)   total(C,1|T,47) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2869):
GACCTGCAGCCTTGGGTCGACCCTGCCCTAGGGGTGACTGCAGGAGAGCAGGGAGGATGGTCAGGCGTCACCAACAACCCCATCACCCAGTAACAAGAAC
Y
TTGACTCTCTCAGTCCCTCTGCATCAAGACACTTACCCATTTCCCACCTCATGCCTGCTAACTTGAATGAAACAATCGCTGGGAAAGCATTAAGAGAATT
Celera SNP ID:            hCV15956211
SNP Position Transcript:  361
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,39)   total(C,39|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2870):
CGCCTGTCTTCCAGAACGATTCCTTCACCAGCCCTCTTTCCATTGCTCTAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTT
R
TCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTC
Celera SNP ID:            hCV11987172
SNP Position Transcript:  1341
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:787, 17, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:2871):
CGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGC
R
CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCC
Celera SNP ID:            hCV26177490
SNP Position Transcript:  2001
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,47)   total(G,47|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2872):
CGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGC
R
GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCC
Celera SNP ID:            hCV26177491
SNP Position Transcript:  1997
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,2|A,44)   total(G,2|A,44) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2873):
CCCTCCCGCCTGTCTTCCAGAACGATTCCTTCACCAGCCCTCTTTCCATTGCTCTAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTG
R
CCCTTGTCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCA
Celera SNP ID:            hCV2620926
SNP Position Transcript:  1335
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,90)      total(G,90|A,5);no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:787, 15, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:2874):
TTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGC
Y
AACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA
Celera SNP ID:            hCV26177492
SNP Position Transcript:  1937
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|T,41)   PGA-EUR(EAN-PANEL(C,1|T,45)   total(C,2|T,86) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2875):
GCCAAGGAAAGGCTGGCTCTGGCTTAGCCGAGCCAAGCCCCATACAGCTGTGCTGCAGGGGCCACCCCATCTTCTTCCCACTACACTCCAAGTCACTGGA
Y
CCTTGAATCTCCAAGGGTGTCTGACCAGTAGATTTACCGCTTATTCACCACCGTGTGATCTTAACCTCGTTAAGTTTGCCCATCTACAAAATGAGGATTA
Celera SNP ID:            hCV2620927
SNP Position Transcript:  1719
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,1)   total(C,1|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:787, 143, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:2876):
GCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATC
R
AGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG
Celera SNP ID:            hCV26177493
SNP Position Transcript:  1923
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(G,3|A,39)   total(G,3|A,39) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2877):
TGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGAT
Y
AAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG
Celera SNP ID:            hCV26177494
SNP Position Transcript:  1922
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,3|C,39)   total(C,39|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2878):
GAATGAAACAATCGCTGGGAAAGCATTAAGAGAATTAAGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGCAGGCAGATA
W
CTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCTGCTCTCCCAAAAAAATACAAAAATTAGCTGGGCGTGCTGGTGTGCCTGTATT
Celera SNP ID:            hCV15956209
SNP Position Transcript:  526
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,5|A,43)   PGA-EUR(EAN-PANEL(T,1|A,45)   total(A,88|T,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2879):
GCCCATCTACAAAATGAGGATTATTTGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG
M
GGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCA
Celera SNP ID:            hCV26177495
SNP Position Transcript:  1897
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|C,45)   total(A,1|C,45) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2880):
GTTTGCCCATCTACAAAATGAGGATTATTTGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGCC
V
AGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGT
Celera SNP ID:            hCV26177496
SNP Position Transcript:  1893
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(G,1|C,2|A,39)   total(G,1|A,39|C,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2881):
CTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGG
M
GGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGT
Celera SNP ID:            hCV26177489
SNP Position Transcript:  2056
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|A,47)   total(A,47|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2882):
CCCCCTCCAGCAGCTGAATTCCTGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGTAGGAGAAAA
K
CAAACTCCCTCCAACCTCTTACTTCGGGCTTAAGGCAGAGAACTCGCCTCCCCAGAATCTCCTCCCTCCATGATCCCCCGCTATTCCTCTATTTTCTTTT
Celera SNP ID:            hCV27483711
SNP Position Transcript:  155
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2883):
TCTTCCCACTACACTCCAAGTCACTGGACCCTTGAATCTCCAAGGGTGTCTGACCAGTAGATTTACCGCTTATTCACCACCGTGTGATCTTAACCTCGTT
W
AGTTTGCCCATCTACAAAATGAGGATTATTTGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGGCTCAAACGCCTGTAATCCCAGCACTTTGGGAGGC
Celera SNP ID:            hCV15956164
SNP Position Transcript:  1791
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,2|A,40)   total(A,40|T,2) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:787, 167, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:2884):
GCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTC
Y
TGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGTAGGAGAAAAGCAAACTCCCTCCAACCTCTTA
Celera SNP ID:            hCV15956092
SNP Position Transcript:  76
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2885):
CACCAGCCCTCTTTCCATTGCTCTAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTTGTCTTTGGTGAAGGGTCTGCTGTGC
M
CCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCA
Celera SNP ID:            hCV15956173
SNP Position Transcript:  1366
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:787, 25, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:2886):
CCCATACAGCTGTGCTGCAGGGGCCACCCCATCTTCTTCCCACTACACTCCAAGTCACTGGACCCTTGAATCTCCAAGGGTGTCTGACCAGTAGATTTAC
Y
GCTTATTCACCACCGTGTGATCTTAACCTCGTTAAGTTTGCCCATCTACAAAATGAGGATTATTTGCTGTCCTAAAGAATTCATGAGCCGGGCGCGGTGG
Celera SNP ID:            hCV15956343
SNP Position Transcript:  1757
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,2|C,44)   total(C,44|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:787, 155, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:2887):
CATGGTCTCTTCCTGCACCTTGCCCTAGTGTTCACTTACCACCTGCTTGCAGGAAACAAGAAGAGCAGGGCCCACAGCTGGCCAGCTCCCCTCCCCTCCC
R
CCTGTCTTCCAGAACGATTCCTTCACCAGCCCTCTTTCCATTGCTCTAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTTGT
Celera SNP ID:            hCV15956174
SNP Position Transcript:  1242
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,47)   total(G,47|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2888):
GAACTTCAGGTAGGAGAAAAGCAAACTCCCTCCAACCTCTTACTTCGGGCTTAAGGCAGAGAACTCGCCTCCCCAGAATCTCCTCCCTCCATGATCCCCC
R
CTATTCCTCTATTTTCTTTTCCTCGGACCTGCAGCCTTGGGTCGACCCTGCCCTAGGGGTGACTGCAGGAGAGCAGGGAGGATGGTCAGGCGTCACCAAC
Celera SNP ID:            hCV15956088
SNP Position Transcript:  235
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,3|G,35)   total(G,35|A,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2889):
GGGAAGGGAGATGGACTGGATTCCAAGATTCCCACAGGGCAAGATGGGCGAAGACTCCCTGCCACTGCCCGGGGATAAGTCAGTCTGAGTGAGACGGAGT
R
GGATGGGCTTAGAACCTGAACATGTCATGGTCTCTTCCTGCACCTTGCCCTAGTGTTCACTTACCACCTGCTTGCAGGAAACAAGAAGAGCAGGGCCCAC
Celera SNP ID:            hCV15956185
SNP Position Transcript:  1116
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,47)   total(G,47|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2890):
AAGAGAGAGAAAGAGAGAGAGGAAAGAAGGAAGGAAGTAAAGAAGAAAGAAAGAAAGAAAGAGGAAAGAGGAAGAAAGAAAGAAAAGAAAGAAAAGAAAA
K
AAAGCAAATTTAAAGCTTATGCAAATCAAAGATGTTGTGATAATTGATAATTGAGTCTGGGCTAAATTCCCCCTGGGCTGCAAAGGCAGAGAGTGGTAAT
Celera SNP ID:            hCV15956186
SNP Position Transcript:  869
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|G,43)   total(G,43|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Context             (SEQ ID NO:2891):
GGGAGGATTGCTTCAGCTGGGGAGGCGGAGGCTGCAGGGAGCCAAGACTGAGCCATTGCACCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAAAAT
R
AATGAAAGGAAGGAAGAAAGAGAGAGAAAGAGAGAGAGGAAAGAAGGAAGGAAGTAAAGAAGAAAGAAAGAAAGAAAGAGGAAAGAGGAAGAAAGAAAGA
Celera SNP ID:            hCV15956197
SNP Position Transcript:  751
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:787, None   



Gene Number:                 43
Celera Gene:                 hCG17353 - 64000127011174
Celera Transcript:           hCT2267114 - 64000127011188
Public Transcript Accession: NM_000602
Celera Protein:              hCP1904602 - 197000069467866
Public Protein Accession:    NP_000593
Gene Symbol:                 SERPINE1
Protein Name:                serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;PAI;PAI-1;PAI1;PLANH1
Celera Genomic Axis:         GA_x54KRFTLAET(179940..191885)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:91):
CAGAGAGGGAGGTGTCGAGGGGGACCCGCTGGCTGTTCAGACRGACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCC
CACATCTGGTATAAAAGGAGGCAGTGGCYCACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCC
AGCAGCTGAATTCYTGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCC
CTCACCTGCCTAGTCCTGGGCCTGRCCCTTRTCTTTGGTGAAGGGTCTGCTGTGCMCCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGG
TGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCACCCTATGGGGTGGCCTCGGTGTTGGCCATGCTCCAGCTGACAAC
AGGAGGAGAAACCCAGCAGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCAYG
GGGCCATGGAACAAGGAYGAGATCAGCACCACAGACGCRATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGT
TCCGGAGCACGGTCAAGCAAGTGGACTTTTCAGAGGTGGAGAGAGCCAGATTCATCATCAATGACTGGGTGAAGACACACACAAAAGGTATGATCAGCAA
CTTGCTTGGGAAAGGAGCCGTGGACCAGCTGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGC
ACCCACCRCCGCCTCTTCCACAAATCAGAYGGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCG
ATGGCCATTACTACGACATCCTGGAACTGCCCTACCACGGGGACAMCCTCAGCATGTTCATTGCTGCCCCTTATGAAAAAGAGGTGCCTCTCTCTGCCCT
CACCAACATTCTGAGTGCCCAGCTCATCAGCCACTGGAAAGGCAACATGACCAGGCTGCCCCGCCTCCTGGTTCTGCCCAAGTTCTCCCTGGAGACTGAA
GTCGACCTCAGGAAGCCCCTAGAGAACCTGGGAATGACCGACATGTTCAGACAGTTTCAGGCTGACTTCACGAGTCTTTCAGACCAAGAGCCTCTCCACG
TCGCGCAGGCGCTGCAGAAAGTGAAGATCGAGGTGAACGAGAGTGGCACGGTGGCCTCCTCATCCACAGCTGTCATAGTCTCAGCCCGCATGGCCCCCGA
GGAGATCATCATGGACAGACCCTTCCTCTTTGTGGTCCGGCACAACCCCACAGGAACAGTCCTTTTCATGGGCCAAGTGATGGAACCCTGACCCTGGGGA
AAGACGCCTTCATCTGGGACAAAACTGGAGATGCATCGGGAAAGAAGAAACTCCGAAGAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAA
GACATTTGCCTTTYGTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCTYTCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTG
AGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCCRTCTC
TCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGAYGGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAACTATT
TCTGTTCCAGTCACATTGCCATCACTCTTGTACTCCCTTTCATCTCAGAGTCCACTGTGGCACTGGCCACCCCTCCCCAGTACAGGGGTGCTGCAGGTGG
CAGAGTGAATGTCCCCCATCATGTGGCCCAACTCTCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTT
GTTTACTCATTGAAGCAGATTTYTGCTYCCTTTTWTTTTTATAGGAATAGAGGAAGAAAKGTCAGATGCGTGCCCAGCTCTTMACCCCCCAATCTCTTGG
TGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACYACYAAGGAAAATAATATTATTTAAACTCGCT
CCTAGTGTTTCTTTGTGGTCTGTGTCACCRTATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCCTCCGGACATCCAGCGTGACGGAGCCCACACT
GCCACCTTGTGGCCGCCTGAGACCCTCGCGCCCCCCGCGCCCCCCGCGCCCCTCTTTTTCCCCTTGATGGAAATTGACCATACAATTTCATCCTCCTTCA
GGGGATCAAAAGGACGGAGTGGGGGGACAGAGACTCAGATGAGGACAGAGTGGTTTCCAATGTGTTCAATAGATTTAGGAGCAGAAATGCAAGGGGCTGC
ATGACCTACCAGGACAGAACTTTCCCCAATTAYAGGGTGACTCACAGCCGCATTGGTGACTCACTTCAATGTGTCAWTTCCGGCTGCTGTGTGTGAGCAG
TGGACACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATTCAACTACCTTAGATAATATTTCTGAAAACCTACCAGCCAGAGGGTAGGGCACA
AAGAYGGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGTYTCT

Protein Sequence    (SEQ ID NO:788):
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDDKGMAPALRH
LYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIINDWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKT
PFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPK
FSLETEVDLRKPLENLGMTDMFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGTVLFMGQVM
EP


SNP Information

Context             (SEQ ID NO:2892):
CCAACTCTCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCT
Y
CCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATC
Celera SNP ID:            hCV7610278
SNP Position Transcript:  2128
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   POOLE|_CEPH(T,79|C,109)   total(C,109|T,79) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2893):
GTGGCCCAACTCTCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTT
Y
TGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATAT
Celera SNP ID:            hCV7610279
SNP Position Transcript:  2123
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2894):
AGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCATGGGGCCATGGAACAAGGA
Y
GAGATCAGCACCACAGACGCGATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGTTCCGGAGCACGGTCAAGC
Celera SNP ID:            hCV27468466
SNP Position Transcript:  618
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:788, 112, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:2895):
GATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCATGGGGCCATGGAACAAGGATGAGATCAGCACCACAGACGC
R
ATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGTTCCGGAGCACGGTCAAGCAAGTGGACTTTTCAGAGGTGG
Celera SNP ID:            hCV11987171
SNP Position Transcript:  639
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:788, 119, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:2896):
TATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTACTAAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACC
R
TATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCCTCCGGACATCCAGCGTGACGGAGCCCACACTGCCACCTTGTGGCCGCCTGAGACCCTCGCG
Celera SNP ID:            hCV11987148
SNP Position Transcript:  2330
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,2|G,44)   PGA-EUR(EAN-PANEL(A,10|G,36)   total(G,80|A,12)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2897):
CCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTT
R
TCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTC
Celera SNP ID:            hCV11987172
SNP Position Transcript:  331
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 17, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:2898):
TCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTT
W
TTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCT
Celera SNP ID:            hCV11987149
SNP Position Transcript:  2135
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2899):
CAGAGAGGGAGGTGTCGAGGGGGACCCGCTGGCTGTTCAGAC
R
GACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCCCACATCTGGTATAAAAGGAGGCAGTGGCCCACAGAGGAGCACA
Celera SNP ID:            hCV2620925
SNP Position Transcript:  43
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2900):
CAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTG
R
CCCTTGTCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCA
Celera SNP ID:            hCV2620926
SNP Position Transcript:  325
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,90)      total(G,90|A,5);no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 15, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:2901):
GCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTAC
Y
AAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACCGTATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCCTCC
Celera SNP ID:            hCV15825683
SNP Position Transcript:  2272
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2902):
TGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGCACCCACCGCCGCCTCTTCCACAAATCAGA
Y
GGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCATTACTACGACATCCTGGAACTGC
Celera SNP ID:            hCV15956223
SNP Position Transcript:  930
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34|T,2)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:788, 216, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:788, 216, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:2903):
CGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAAC
Y
ACTAAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACCGTATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCC
Celera SNP ID:            hCV15825684
SNP Position Transcript:  2269
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2904):
ACCTGAGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCC
R
TCTCTCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGACGGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAAC
Celera SNP ID:            hCV15956330
SNP Position Transcript:  1796
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2905):
GGGAAAGGAGCCGTGGACCAGCTGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGCACCCACC
R
CCGCCTCTTCCACAAATCAGACGGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCAT
Celera SNP ID:            hCV15956233
SNP Position Transcript:  908
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 209, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:2906):
GAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAAGACATTTGCCTTTTGTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCT
Y
TCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTGAGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTG
Celera SNP ID:            hCV15956331
SNP Position Transcript:  1658
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2907):
GACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCCGTCTCTCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGA
Y
GGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAACTATTTCTGTTCCAGTCACATTGCCATCACTCTTGTACTCCCTTTCATCTCAGAGTC
Celera SNP ID:            hCV2620947
SNP Position Transcript:  1852
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   POOLE|_CEPH(T,91|C,97)   total(C,97|T,91)   PGA-AFRICAN-PANEL(C,19|T,23)   PGA-EUR(EAN-PANEL(C,14|T,28)   total(C,33|T,51)   JBIC-allele(T,617|C,876)   total(C,876|T,617)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2908):
CTGGGACAAAACTGGAGATGCATCGGGAAAGAAGAAACTCCGAAGAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAAGACATTTGCCTTT
Y
GTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCTCTCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTGAGACCCTGGGAGAG
Celera SNP ID:            hCV15956341
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(T,36)   total(C,2|T,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|T,47)   total(C,1|T,47) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2909):
AGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAA
K
GTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGA
Celera SNP ID:            hCV2620948
SNP Position Transcript:  2160
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   POOLE|_CEPH(T,77|G,111)   total(G,111|T,77)PGA-AFRICAN-PANEL(G,21|T,25)   PGA-EUR(EAN-PANEL(G,15|T,31)   total(G,36|T,56)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2910):
CACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATTCAACTACCTTAGATAATATTTCTGAAAACCTACCAGCCAGAGGGTAGGGCACAAAGA
Y
GGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGTCTCT
Celera SNP ID:            hCV15956319
SNP Position Transcript:  2805
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,2|T,46)   total(C,2|T,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2911):
AAAGGAGGCAGTGGCCCACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTC
Y
TGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGT
Celera SNP ID:            hCV15956092
SNP Position Transcript:  214
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2912):
ACAGGAGGAGAAACCCAGCAGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCA
Y
GGGGCCATGGAACAAGGATGAGATCAGCACCACAGACGCGATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTG
Celera SNP ID:            hCV25649419
SNP Position Transcript:  599
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 106, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2913):
TCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTTGTCTTTGGTGAAGGGTCTGCTGTGC
M
CCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCA
Celera SNP ID:            hCV15956173
SNP Position Transcript:  356
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 25, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:2914):
CTGGCTGTTCAGACGGACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCCCACATCTGGTATAAAAGGAGGCAGTGGC
Y
CACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTCCTGCAGCTCAGCAGCC
Celera SNP ID:            hCV15956093
SNP Position Transcript:  129
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,39)   total(C,39|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2915):
TTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTT
M
ACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTACTAAGGAAAATAA
Celera SNP ID:            hCV15956329
SNP Position Transcript:  2183
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,2|C,44)   total(A,2|C,44) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2916):
GCACAAAGATGGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGT
Y
TCT
Celera SNP ID:            hCV15956353
SNP Position Transcript:  2896
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,3|C,43)   total(C,43|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2917):
GTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCATTACTACGACATCCTGGAACTGCCCTACCACGGGGACA
M
CCTCAGCATGTTCATTGCTGCCCCTTATGAAAAAGAGGTGCCTCTCTCTGCCCTCACCAACATTCTGAGTGCCCAGCTCATCAGCCACTGGAAAGGCAAC
Celera SNP ID:            hCV15956281
SNP Position Transcript:  1046
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:788, 255, (N,AAC)   (T,ACC)      



Context             (SEQ ID NO:2918):
ACTCAGATGAGGACAGAGTGGTTTCCAATGTGTTCAATAGATTTAGGAGCAGAAATGCAAGGGGCTGCATGACCTACCAGGACAGAACTTTCCCCAATTA
Y
AGGGTGACTCACAGCCGCATTGGTGACTCACTTCAATGTGTCATTTCCGGCTGCTGTGTGTGAGCAGTGGACACGTGAGGGGGGGGTGGGTGAGAGAGAC
Celera SNP ID:            hCV15956364
SNP Position Transcript:  2633
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,2|C,44)   total(C,44|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Context             (SEQ ID NO:2919):
AGGAGCAGAAATGCAAGGGGCTGCATGACCTACCAGGACAGAACTTTCCCCAATTACAGGGTGACTCACAGCCGCATTGGTGACTCACTTCAATGTGTCA
W
TTCCGGCTGCTGTGTGTGAGCAGTGGACACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATTCAACTACCTTAGATAATATTTCTGAAAACC
Celera SNP ID:            hCV7610270
SNP Position Transcript:  2677
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:788, None   



Gene Number:                 43
Celera Gene:                 hCG17353 - 64000127011174
Celera Transcript:           hCT8403 - 64000127011175
Public Transcript Accession: NM_000602
Celera Protein:              hCP33986 - 197000069467865
Public Protein Accession:    NP_000593
Gene Symbol:                 SERPINE1
Protein Name:                serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;PAI;PAI-1;PAI1;PLANH1
Celera Genomic Axis:         GA_x54KRFTLAET(179940..192253)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:92):
CAGAGAGGGAGGTGTCGAGGGGGACCCGCTGGCTGTTCAGACRGACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCC
CACATCTGGTATAAAAGGAGGCAGTGGCYCACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCC
AGCAGCTGAATTCYTGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCC
CTCACCTGCCTAGTCCTGGGCCTGRCCCTTRTCTTTGGTGAAGGGTCTGCTGTGCMCCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGG
TGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCACCCTATGGGGTGGCCTCGGTGTTGGCCATGCTCCAGCTGACAAC
AGGAGGAGAAACCCAGCAGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCAYG
GGGCCATGGAACAAGGAYGAGATCAGCACCACAGACGCRATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGT
TCCGGAGCACGGTCAAGCAAGTGGACTTTTCAGAGGTGGAGAGAGCCAGATTCATCATCAATGACTGGGTGAAGACACACACAAAAGGTATGATCAGCAA
CTTGCTTGGGAAAGGAGCCGTGGACCAGCTGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGC
ACCCACCRCCGCCTCTTCCACAAATCAGAYGGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCG
ATGGCCATTACTACGACATCCTGGAACTGCCCTACCACGGGGACAMCCTCAGCATGTTCATTGCTGCCCCTTATGAAAAAGAGGTGCCTCTCTCTGCCCT
CACCAACATTCTGAGTGCCCAGCTCATCAGCCACTGGAAAGGCAACATGACCAGGCTGCCCCGCCTCCTGGTTCTGCCCAAGTTCTCCCTGGAGACTGAA
GTCGACCTCAGGAAGCCCCTAGAGAACCTGGGAATGACCGACATGTTCAGACAGTTTCAGGCTGACTTCACGAGTCTTTCAGACCAAGAGCCTCTCCACG
TCGCGCAGGCGCTGCAGAAAGTGAAGATCGAGGTGAACGAGAGTGGCACGGTGGCCTCCTCATCCACAGCTGTCATAGTCTCAGCCCGCATGGCCCCCGA
GGAGATCATCATGGACAGACCCTTCCTCTTTGTGGTCCGGCACAACCCCACAGGAACAGTCCTTTTCATGGGCCAAGTGATGGAACCCTGACCCTGGGGA
AAGACGCCTTCATCTGGGACAAAACTGGAGATGCATCGGGAAAGAAGAAACTCCGAAGAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAA
GACATTTGCCTTTYGTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCTYTCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTG
AGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCCRTCTC
TCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGAYGGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAACTATT
TCTGTTCCAGTCACATTGCCATCACTCTTGTACTGCCTGCCACCGCGGAGGAGGCTGGTGACAGGCCAAAGGCCAGTGGAAGAAACACCCTTTCATCTCA
GAGTCCACTGTGGCACTGGCCACCCCTCCCCAGTACAGGGGTGCTGCAGGTGGCAGAGTGAATGTCCCCCATCATGTGGCCCAACTCTCCTGGCCTGGCC
ATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTYTGCTYCCTTTTWTTTTTATAGGAA
TAGAGGAAGAAAKGTCAGATGCGTGCCCAGCTCTTMACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTG
CTTGTTAGAGAGAAAGAGAACYACYAAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACCRTATCTCAGGAAGTCCAG
CCACTTGACTGGCACACACCCCTCCGGACATCCAGCGTGACGGAGCCCACACTGCCACCTTGTGGCCGCCTGAGACCCTCGCGCCCCCCGCGCCCCCCGC
GCCCCTCTTTTTCCCCTTGATGGAAATTGACCATACAATTTCATCCTCCTTCAGGGGATCAAAAGGACGGAGTGGGGGGACAGAGACTCAGATGAGGACA
GAGTGGTTTCCAATGTGTTCAATAGATTTAGGAGCAGAAATGCAAGGGGCTGCATGACCTACCAGGACAGAACTTTCCCCAATTAYAGGGTGACTCACAG
CCGCATTGGTGACTCACTTCAATGTGTCAWTTCCGGCTGCTGTGTGTGAGCAGTGGACACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATT
CAACTACCTTAGATAATATTTCTGAAAACCTACCAGCCAGAGGGTAGGGCACAAAGAYGGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTT
GAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGTYTCTTTAAAAATATATATATTTTAAATATACTTAAATATATATTTCTAATAT
CTTTAAATATATATATATATTTTAAAGACCAATTTATGGGAGAATTGCACACAGATGTGAAATGAATGTAATCTAATAGAAGCCTAATCAGCCCACCATG
TTCTCCACTGAAAAATCCTCTTTCTTTGGGGTTTTTCTTTCTTTCTTTTTTGATTTTGCACTGGACGGTGACGTCAGCCATGTACAGGATCCACAGGGGT
GGTGTCAAATGCTATTGAAATTGTGTTGAATTGTATRCTTTTTCACTTTTGATAAATAAACATGTAAAAATGTTTCAAAAAAATAATAAAATAAATAAAT
ACGAAGAATATGTCAGGACA

Protein Sequence    (SEQ ID NO:789):
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDDKGMAPALRH
LYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIINDWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKT
PFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPK
FSLETEVDLRKPLENLGMTDMFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGTVLFMGQVM
EP


SNP Information

Context             (SEQ ID NO:2920):
CTTTCTTTCTTTTTTGATTTTGCACTGGACGGTGACGTCAGCCATGTACAGGATCCACAGGGGTGGTGTCAAATGCTATTGAAATTGTGTTGAATTGTAT
R
CTTTTTCACTTTTGATAAATAAACATGTAAAAATGTTTCAAAAAAATAATAAAATAAATAAATACGAAGAATATGTCAGGACA
Celera SNP ID:            hCV7610269
SNP Position Transcript:  3237
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,2)      total(G,2|A,2) ;no_pop(A,-|G,-)   ;PGA-AFRICAN-PANEL(A,12|G,36)   PGA-EUR(EAN-PANEL(A,10|G,36)   total(G,72|A,22)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2921):
CCAACTCTCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCT
Y
CCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATC
Celera SNP ID:            hCV7610278
SNP Position Transcript:  2181
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   POOLE|_CEPH(T,79|C,109)   total(C,109|T,79) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2922):
GTGGCCCAACTCTCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTT
Y
TGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATAT
Celera SNP ID:            hCV7610279
SNP Position Transcript:  2176
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2923):
AGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCATGGGGCCATGGAACAAGGA
Y
GAGATCAGCACCACAGACGCGATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGTTCCGGAGCACGGTCAAGC
Celera SNP ID:            hCV27468466
SNP Position Transcript:  618
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:789, 112, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:2924):
GATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCATGGGGCCATGGAACAAGGATGAGATCAGCACCACAGACGC
R
ATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGTTCCGGAGCACGGTCAAGCAAGTGGACTTTTCAGAGGTGG
Celera SNP ID:            hCV11987171
SNP Position Transcript:  639
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:789, 119, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:2925):
TATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTACTAAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACC
R
TATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCCTCCGGACATCCAGCGTGACGGAGCCCACACTGCCACCTTGTGGCCGCCTGAGACCCTCGCG
Celera SNP ID:            hCV11987148
SNP Position Transcript:  2383
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,2|G,44)   PGA-EUR(EAN-PANEL(A,10|G,36)   total(G,80|A,12)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2926):
CCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTT
R
TCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTC
Celera SNP ID:            hCV11987172
SNP Position Transcript:  331
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 17, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:2927):
TCCTGGCCTGGCCATCTCCCTCCCCAGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTT
W
TTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCT
Celera SNP ID:            hCV11987149
SNP Position Transcript:  2188
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2928):
CAGAGAGGGAGGTGTCGAGGGGGACCCGCTGGCTGTTCAGAC
R
GACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCCCACATCTGGTATAAAAGGAGGCAGTGGCCCACAGAGGAGCACA
Celera SNP ID:            hCV2620925
SNP Position Transcript:  43
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2929):
CAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTG
R
CCCTTGTCTTTGGTGAAGGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCA
Celera SNP ID:            hCV2620926
SNP Position Transcript:  325
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,90)      total(G,90|A,5);no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 15, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:2930):
GCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTAC
Y
AAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACCGTATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCCTCC
Celera SNP ID:            hCV15825683
SNP Position Transcript:  2325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2931):
TGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGCACCCACCGCCGCCTCTTCCACAAATCAGA
Y
GGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCATTACTACGACATCCTGGAACTGC
Celera SNP ID:            hCV15956223
SNP Position Transcript:  930
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34|T,2)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:789, 216, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:789, 216, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:2932):
CGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAAC
Y
ACTAAGGAAAATAATATTATTTAAACTCGCTCCTAGTGTTTCTTTGTGGTCTGTGTCACCGTATCTCAGGAAGTCCAGCCACTTGACTGGCACACACCCC
Celera SNP ID:            hCV15825684
SNP Position Transcript:  2322
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2933):
ACCTGAGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCC
R
TCTCTCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGACGGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAAC
Celera SNP ID:            hCV15956330
SNP Position Transcript:  1796
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2934):
GGGAAAGGAGCCGTGGACCAGCTGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACTCCCTTCCCCGACTCCAGCACCCACC
R
CCGCCTCTTCCACAAATCAGACGGCAGCACTGTCTCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCAT
Celera SNP ID:            hCV15956233
SNP Position Transcript:  908
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 209, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:2935):
GAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAAGACATTTGCCTTTTGTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCT
Y
TCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTGAGACCCTGGGAGAGAAGTTTGAAGCACAACTCCCTTAAGGTCTCCAAACCAGACGGTG
Celera SNP ID:            hCV15956331
SNP Position Transcript:  1658
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2936):
GACGGTGACGCCTGCGGGACCATCTGGGGCACCTGCTTCCACCCGTCTCTCTGCCCACTCGGGTCTGCAGACCTGGTTCCCACTGAGGCCCTTTGCAGGA
Y
GGAACTACGGGGCTTACAGGAGCTTTTGTGTGCCTGGTAGAAACTATTTCTGTTCCAGTCACATTGCCATCACTCTTGTACTGCCTGCCACCGCGGAGGA
Celera SNP ID:            hCV2620947
SNP Position Transcript:  1852
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   POOLE|_CEPH(T,91|C,97)   total(C,97|T,91)   PGA-AFRICAN-PANEL(C,19|T,23)   PGA-EUR(EAN-PANEL(C,14|T,28)   total(C,33|T,51)   JBIC-allele(T,617|C,876)   total(C,876|T,617)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2937):
CTGGGACAAAACTGGAGATGCATCGGGAAAGAAGAAACTCCGAAGAAAAGAATTTTAGTGTTAATGACTCTTTCTGAAGGAAGAGAAGACATTTGCCTTT
Y
GTTAAAAGATGGTAAACCAGATCTGTCTCCAAGACCTTGGCCTCTCCTTGGAGGACCTTTAGGTCAAACTCCCTAGTCTCCACCTGAGACCCTGGGAGAG
Celera SNP ID:            hCV15956341
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(T,36)   total(C,2|T,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|T,47)   total(C,1|T,47) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2938):
AGAAACAGTGTGCATGGGTTATTTTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAA
K
GTCAGATGCGTGCCCAGCTCTTCACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGA
Celera SNP ID:            hCV2620948
SNP Position Transcript:  2213
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   POOLE|_CEPH(T,77|G,111)   total(G,111|T,77)PGA-AFRICAN-PANEL(G,21|T,25)   PGA-EUR(EAN-PANEL(G,15|T,31)   total(G,36|T,56)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2939):
CACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATTCAACTACCTTAGATAATATTTCTGAAAACCTACCAGCCAGAGGGTAGGGCACAAAGA
Y
GGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGTCTCTTTAAAA
Celera SNP ID:            hCV15956319
SNP Position Transcript:  2858
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,2|T,46)   total(C,2|T,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2940):
AAAGGAGGCAGTGGCCCACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTC
Y
TGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGT
Celera SNP ID:            hCV15956092
SNP Position Transcript:  214
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2941):
ACAGGAGGAGAAACCCAGCAGCAGATTCAAGCAGCTATGGGATTCAAGATTGATGACAAGGGCATGGCCCCCGCCCTCCGGCATCTGTACAAGGAGCTCA
Y
GGGGCCATGGAACAAGGATGAGATCAGCACCACAGACGCGATCTTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTG
Celera SNP ID:            hCV25649419
SNP Position Transcript:  599
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 106, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:2942):
TCGCAAGGCACCTCTGAGAACTTCAGGATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTTGTCTTTGGTGAAGGGTCTGCTGTGC
M
CCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTGAGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCA
Celera SNP ID:            hCV15956173
SNP Position Transcript:  356
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 25, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:2943):
CTGGCTGTTCAGACGGACTCCCAGAGCCAGTGAGTGGGTGGGGCTGGAACATGAGTTCATCTATTTCCTGCCCACATCTGGTATAAAAGGAGGCAGTGGC
Y
CACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTCCTGCAGCTCAGCAGCC
Celera SNP ID:            hCV15956093
SNP Position Transcript:  129
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,39)   total(C,39|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2944):
TTGGAGTGTAGGTGACTTGTTTACTCATTGAAGCAGATTTCTGCTTCCTTTTATTTTTATAGGAATAGAGGAAGAAATGTCAGATGCGTGCCCAGCTCTT
M
ACCCCCCAATCTCTTGGTGGGGAGGGGTGTACCTAAATATTTATCATATCCTTGCCCTTGAGTGCTTGTTAGAGAGAAAGAGAACTACTAAGGAAAATAA
Celera SNP ID:            hCV15956329
SNP Position Transcript:  2236
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,2|C,44)   total(A,2|C,44) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2945):
GCACAAAGATGGATGTAATGCACTTTGGGAGGCCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCCGT
Y
TCTTTAAAAATATATATATTTTAAATATACTTAAATATATATTTCTAATATCTTTAAATATATATATATATTTTAAAGACCAATTTATGGGAGAATTGCA
Celera SNP ID:            hCV15956353
SNP Position Transcript:  2949
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,3|C,43)   total(C,43|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2946):
GTGCCCATGATGGCTCAGACCAACAAGTTCAACTATACTGAGTTCACCACGCCCGATGGCCATTACTACGACATCCTGGAACTGCCCTACCACGGGGACA
M
CCTCAGCATGTTCATTGCTGCCCCTTATGAAAAAGAGGTGCCTCTCTCTGCCCTCACCAACATTCTGAGTGCCCAGCTCATCAGCCACTGGAAAGGCAAC
Celera SNP ID:            hCV15956281
SNP Position Transcript:  1046
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:789, 255, (N,AAC)   (T,ACC)      



Context             (SEQ ID NO:2947):
ACTCAGATGAGGACAGAGTGGTTTCCAATGTGTTCAATAGATTTAGGAGCAGAAATGCAAGGGGCTGCATGACCTACCAGGACAGAACTTTCCCCAATTA
Y
AGGGTGACTCACAGCCGCATTGGTGACTCACTTCAATGTGTCATTTCCGGCTGCTGTGTGTGAGCAGTGGACACGTGAGGGGGGGGTGGGTGAGAGAGAC
Celera SNP ID:            hCV15956364
SNP Position Transcript:  2686
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,2|C,44)   total(C,44|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Context             (SEQ ID NO:2948):
AGGAGCAGAAATGCAAGGGGCTGCATGACCTACCAGGACAGAACTTTCCCCAATTACAGGGTGACTCACAGCCGCATTGGTGACTCACTTCAATGTGTCA
W
TTCCGGCTGCTGTGTGTGAGCAGTGGACACGTGAGGGGGGGGTGGGTGAGAGAGACAGGCAGCTCGGATTCAACTACCTTAGATAATATTTCTGAAAACC
Celera SNP ID:            hCV7610270
SNP Position Transcript:  2730
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:789, None   



Gene Number:                 44
Celera Gene:                 hCG1736748 - 114000133377793
Celera Transcript:           hCT1954054 - 114000133377802
Public Transcript Accession: NM_003676
Celera Protein:              hCP1761110 - 197000064938954
Public Protein Accession:    NP_003667
Gene Symbol:                 DEGS
Protein Name:                degenerative spermatocyte homolog, lipid desaturase (Drosophila);DES1;Des-1;MGC5079;MLD
Celera Genomic Axis:         GA_x5YUV32VWMC(143030..153248)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:93):
CACAGCCGGCCGACACCACACCAGCCGGGGAGCCGCCGCCGCCGCCGCCACCTCTGAGCAGCCGGCTGGGAGCGAGAGCCGACAGCTAGTCTGCAAGCCA
CCGCTGTCGCCATGGGGAGCCGCGTCTCGCGGGAAGACTTCGAGTGGGTCTACACCGACCAGCCGCACGCCGACCGGCGCCGGGAGATCCTGGCAAAGTA
TCCAGAGATAAAGTCCTTGATGAAACCTGATCCCAATTTGATATGGATTATAATTATGATGGTTCTCACCCAGTTGGGTGCATTTTACATAGTAAAAGAC
TTGGACTGGAAATGGGTCATATTTGGGGCCTATGCGTTTGGCAGTTGCATTAACCACTCAATGACTCTGGCTATTCATGAGATTGCCCACAATGCTGCCT
TTGGCAACTGCAAAGCAATGTGGAATCGCTGGTTTGGAATGTTTGCTAATCTTCCTATTGGGATTCCATATTCAATTTCCTTTAAGAGGTATCACATGGA
TCATCATCGGTACCTTGGAGCTGATGGCGTCGATGTAGATATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTTTATATGGGTT
ATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTTYATCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAGGTCACTTTTG
ACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAGTCTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTGGACATTTTAT
AGCTGAGCATTACATGTTCTTAAAGGGTCATGAAAMTTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCAT
GATTTCCCCARCATTCCTGGAAAAAGTCTTCCACTGGTGAGGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGGATAAAAGTAC
TGTATGATTTTGTGATGGATGATACAATAAGTCCCTACTCAAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAAATATCATTAGTGCCAAA
GGGATTCTTCTCCAAAACTTTAGATGATAAAATGGARTTTTTGCATTATTAAACTTGAGACCAGTGATGCTCAGAAGCTCCCCTGGCACAATTTCAGAGT
AAGAGCTCGGTGATACCAAGAAGTGAATCTGGCTTTTAAACAGTCAGCCTGACTCTGTACTGCTCAGTTTCACTCACAGGAAACTTGTGACTTGTGTATT
ATCGTCATTGAGGATGTTTCACTCATGTCTGTCATTTTATAAGCATATCATTTAAAAAGCTTCTAAAAAGCTATTTCGCCRGGCACGGTGGCTCATGCCT
ATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGRGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAA
ATGCAAAAATTAGCCGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCGGAGGCAGAG
GCTGCAGTGACCCAAGATTGTGCCACTGCACTCCACCCTGGGCAACAGAGCAAGACCCCATCTCAAAAATAAATAAATATATATAAAAAATAAAAAGCTA
TTTCTAGTTTATTTCACTATAAAGTTTTGCTTTATTAAAAAGCTAATAAACAGCTATTAATCACAGTGTATTAGTATTTGTTACATTTTTGTATTTCACT
ATCTTTATACTATATAATATGGTWACTTGGGTACCGGGGGAACTTTAAAATTTCATCTCAAAAATAATTTTTAAAAAGCCTGAGGTATGATATAGCATAA
AAGATTGAGATGAAAATATATTTCCCTGTAAGCTGAATTACTCATTTAAAAATTTTAACTTCTATATGGGACCCGAATTAGACACTGCTGAATCCTGTAC
AGCCTTACTYATAAATAAARTACTTACTGAATTTCCACCATTCAAATTCAT

Protein Sequence    (SEQ ID NO:790):
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNC
KAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILI
YYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
VMDDTISPYSRMKRHQKGEMVLE


SNP Information

Context             (SEQ ID NO:2949):
ATATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTTTATATGGGTTATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTT
Y
ATCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAGGTCACTTTTGACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAG
Celera SNP ID:            hCV25649940
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,32|T,6)   total(C,64|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:790, 176, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:2950):
GTTTTGCTTTATTAAAAAGCTAATAAACAGCTATTAATCACAGTGTATTAGTATTTGTTACATTTTTGTATTTCACTATCTTTATACTATATAATATGGT
W
ACTTGGGTACCGGGGGAACTTTAAAATTTCATCTCAAAAATAATTTTTAAAAAGCCTGAGGTATGATATAGCATAAAAGATTGAGATGAAAATATATTTC
Celera SNP ID:            hCV11576875
SNP Position Transcript:  1824
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Context             (SEQ ID NO:2951):
ATTTCCCTGTAAGCTGAATTACTCATTTAAAAATTTTAACTTCTATATGGGACCCGAATTAGACACTGCTGAATCCTGTACAGCCTTACTCATAAATAAA
R
TACTTACTGAATTTCCACCATTCAAATTCAT
Celera SNP ID:            hCV1721622
SNP Position Transcript:  2020
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,9)   total(G,9|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Context             (SEQ ID NO:2952):
TACATGTTCTTAAAGGGTCATGAAACTTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCATGATTTCCCCA
R
CATTCCTGGAAAAAGTCTTCCACTGGTGAGGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGGATAAAAGTACTGTATGATTTT
Celera SNP ID:            hCV25649928
SNP Position Transcript:  911
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,35|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:790, 267, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:2953):
TTAAAAAGCTTCTAAAAAGCTATTTCGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGG
R
GTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACATG
Celera SNP ID:            hCV12023153
SNP Position Transcript:  1452
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,9)   total(G,1|A,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Context             (SEQ ID NO:2954):
AAACTTGTGACTTGTGTATTATCGTCATTGAGGATGTTTCACTCATGTCTGTCATTTTATAAGCATATCATTTAAAAAGCTTCTAAAAAGCTATTTCGCC
R
GGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGA
Celera SNP ID:            hCV12023154
SNP Position Transcript:  1381
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Context             (SEQ ID NO:2955):
ACTCAAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAAATATCATTAGTGCCAAAGGGATTCTTCTCCAAAACTTTAGATGATAAAATGGA
R
TTTTTGCATTATTAAACTTGAGACCAGTGATGCTCAGAAGCTCCCCTGGCACAATTTCAGAGTAAGAGCTCGGTGATACCAAGAAGTGAATCTGGCTTTT
Celera SNP ID:            hCV12023155
SNP Position Transcript:  1137
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32|G,2)   total(A,63|G,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Context             (SEQ ID NO:2956):
TTAGTCTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTGGACATTTTATAGCTGAGCATTACATGTTCTTAAAGGGTCATGAAA
M
TTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCATGATTTCCCCAACATTCCTGGAAAAAGTCTTCCACTG
Celera SNP ID:            hCV27466991
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:790, 242, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:2957):
ATGAAAATATATTTCCCTGTAAGCTGAATTACTCATTTAAAAATTTTAACTTCTATATGGGACCCGAATTAGACACTGCTGAATCCTGTACAGCCTTACT
Y
ATAAATAAAGTACTTACTGAATTTCCACCATTCAAATTCAT
Celera SNP ID:            hCV12023148
SNP Position Transcript:  2010
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:790, None   



Gene Number:                 44
Celera Gene:                 hCG1736748 - 114000133377793
Celera Transcript:           hCT1774769 - 114000133377794
Public Transcript Accession: NM_003676
Celera Protein:              hCP1722524 - 197000064938953
Public Protein Accession:    NP_003667
Gene Symbol:                 DEGS
Protein Name:                degenerative spermatocyte homolog, lipid desaturase (Drosophila);DES1;Des-1;MGC5079;MLD
Celera Genomic Axis:         GA_x5YUV32VWMC(143030..153070)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:94):
CACAGCCGGCCGACACCACACCAGCCGGGGAGCCGCCGCCGCCGCCGCCACCTCTGAGCAGCCGGCTGGGAGCGAGAGCCGACAGCTAGTCTGCAAGCCA
CCGCTGTCGCCATGGGGAGCCGCGTCTCGCGGGAAGACTTCGAGTGGGTCTACACCGACCAGCCGCACGCCGACCGGCGCCGGGAGATCCTGGCAAAGTA
TCCAGAGATAAAGTCCTTGATGAAACCTGATCCCAATTTGATATGGATTATAATTATGATGGTTCTCACCCAGTTGGGTGCATTTTACATAGTAAAAGAC
TTGGACTGGAAATGGGTCATATTTGGGGCCTATGCGTTTGGCAGTTGCATTAACCACTCAATGACTCTGGCTATTCATGAGATTGCCCACAATGCTGCCT
TTGGCAACTGCAAAGCAATGTGGAATCGCTGGTTTGGAATGTTTGCTAATCTTCCTATTGGGATTCCATATTCAATTTCCTTTAAGAGGTATCACATGGA
TCATCATCGGTACCTTGGAGCTGATGGCGTCGATGTAGATATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTTTATATGGGTT
ATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTTYATCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAGGTCACTTTTG
ACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAGTCTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTGGACATTTTAT
AGCTGAGCATTACATGTTCTTAAAGGGTCATGAAAMTTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCAT
GATTTCCCCARCATTCCTGGAAAAAGTCTTCCACTGGTGAGGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGGATAAAAGTAC
TGTATGATTTTGTGATGGATGATACAATAAGTCCCTACTCAAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAAATATCATTAGTGCCAAA
GGGATTCTTCTCCAAAACTTTAGATGATAAAATGGARCCGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGTGGGAGAATTGCT
TGAACCCAGGAGGCGGAGGCAGAGGCTGCAGTGACCCAAGATTGTGCCACTGCACTCCACCCTGGGCAACAGAGCAAGACCCCATCTCAAAAATAAATAA
ATATATATAAAAAATAAAAAGCTATTTCTAGTTTATTTCACTATAAAGTTTTGCTTTATTAAAAAGCTAATAAACAGCTATTAATCACAGTGTATTAGTA
TTTGTTACATTTTTGTATTTCACTATCTTTATACTATATAATATGGTWACTTGGGTACCGGGGGAACTTTAAAATTTCATCTCAAAAATAATTTTTA

Protein Sequence    (SEQ ID NO:791):
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNC
KAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILI
YYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
VMDDTISPYSRMKRHQKGEMVLE


SNP Information

Context             (SEQ ID NO:2958):
ATATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTTTATATGGGTTATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTT
Y
ATCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAGGTCACTTTTGACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAG
Celera SNP ID:            hCV25649940
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,32|T,6)   total(C,64|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:791, 176, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:2959):
GTTTTGCTTTATTAAAAAGCTAATAAACAGCTATTAATCACAGTGTATTAGTATTTGTTACATTTTTGTATTTCACTATCTTTATACTATATAATATGGT
W
ACTTGGGTACCGGGGGAACTTTAAAATTTCATCTCAAAAATAATTTTTA
Celera SNP ID:            hCV11576875
SNP Position Transcript:  1448
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|A,7)      total(A,7|T,2) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:791, None   



Context             (SEQ ID NO:2960):
TTAGTCTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTGGACATTTTATAGCTGAGCATTACATGTTCTTAAAGGGTCATGAAA
M
TTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCATGATTTCCCCAACATTCCTGGAAAAAGTCTTCCACTG
Celera SNP ID:            hCV27466991
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:791, 242, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:2961):
ACTCAAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAAATATCATTAGTGCCAAAGGGATTCTTCTCCAAAACTTTAGATGATAAAATGGA
R
CCGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCGGAGGCAGAGGCTGCAGTGACCC
Celera SNP ID:            hCV12023155
SNP Position Transcript:  1137
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32|G,2)   total(A,63|G,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:791, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:791, None   



Context             (SEQ ID NO:2962):
TACATGTTCTTAAAGGGTCATGAAACTTACTCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAATGAACATCATGATTTCCCCA
R
CATTCCTGGAAAAAGTCTTCCACTGGTGAGGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGGATAAAAGTACTGTATGATTTT
Celera SNP ID:            hCV25649928
SNP Position Transcript:  911
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,35|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:791, 267, (N,AAC)   (S,AGC)   



Gene Number:                 45
Celera Gene:                 hCG1744287 - 207000006159771
Celera Transcript:           hCT2340870 - 207000006159750
Public Transcript Accession: 
Celera Protein:              hCP1907454 - 207000006159751
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(8595365..8605828)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:95):
AGGAAAGAAGTTAGTTTCAGAAATACTATGTTCTTACCCCAGAAGACAGATCTAAGTCTAGTTTTATTTGAAATAACTTTTGTTAACAAGGAGGTGATAT
AATGGTAATGTCAGGTATTTATGGAATTCACGATATGGGTAATCAGATGATAAGCAAGGGATGTAGAAAGGGAATTGTCAGAAACTAAAGACAAATTTAA
TTGGCTTTACACTTTGGCCTAGAATCATACCACACTGGGTGATGACACTTAGAAATGCCCATCACCHTCATCATCATCATCATCATCATCATCATCATTG
CTGTTATTATTAAGTGCCTAGATACTTGCTAATAAGTGGAAGATGAAGATGCTCTCTCTATATTATTTCATTTAATCCTCTCAAGAACCATTGGATAGAT
AACTCTTTTTGACAGACAGATAAACCAAGGCGTTGGCTTAGGCCAAAGCATTTACTCAATGTGATATGGAATAGAATGGCCAGAAGTAGTTGACAGGCCC
TAAGGAGAGCTTCACAGCTAACATCAGGAAAGGATTCATTGCCATTAGCCTATGTCCTGGCTCTTGGTGCACCAACAATGAATTTCATGGTGGATGAAAC
AGCAGCAATCAACTCAAACAAGGAATCCCAGCAATTGGTGCAAAAAACGTATAYACTGGAGAAGAAAGAAGCAATGGAGGAAGATGAAGCGCCCCAGCAC
AGAGATGCTGACATAGTACAGGGAAAAGGGGAGGCAGCACTGTGGGGAGAAGCAGGAGCTGTTCATGAGGCTCCCTTGAGGGCGTGGAAGCCAACAGCAG
AGCAGCCAGAATTGGCAGAAGAGTTTACAGAAAAAAGGGAGATCCCTCCAGGCATAGAAAGGGGGGCAGAGGGAGCAGCAGAAGCAGAAGGGGTCAGAAG
GCTGGGTGAAGGGGGGTCAGACCCCATAGGACAAGCAGCAGCAAAAGATGCTGTGGGTCTGAGTAAAGATGAGGCTCCTGAAAAGCAAGCCTTGATGCTC
ACAGTGCTTGAGACAGACAAAGCAGCTTCTGAAGGGGAACAGGGTTTAGAGAAGGCAGTGCTTGCAAATGAAGCAGCAGCCCTGAACTTGGAGCATCTTC
ATGAAGTAGCAGCCCTGAGAGAGGCAGCGACATCGGAGGAGGGAGAGGCTGAGGGTGGGGTGGCTGTGAGTGATGTCGGAGAAAGTGAAGAGGAAGCATC
CATAGACCTAGAGGACACAGGACCCATGGAGGACACAGCATCAAAGAGAGAGGACGGTTCTGAAGAGGCAATTCTTGGGGGAGAGGAACCAGCCAAAGAG
AGAAAAGAGGTTATGAGAACAGAAACACGCTTGAGCCCCTTCACAGGAGAGGCAGAGGCAAGCCGGATGCAGGTTTCGGAGGGCAGCCCTGAGGAAGGAA
GCCTTGCAAAGGAAGCCTTCCTTTGCAAGGAAGATGTGGAAGGGGAAGAGATGGTGACTGAGGCAGAAGCTAATAGGGAAGATGATAGGAAAGAAATTTT
ACCCAAGGAATTAGATTTAGCAAGAGAGCGAAGGAAAGCTGAGAGGCCAAAAACATCTCTGAGGAAAACTGACTCTGAGAGAGAAGAGGTGACAAGGGCA
AATGCACTCAAGGATGAAGATGCTTTTAAAGAAGAGCAAAAACTTAAAGCGGAAGAAGGGGAAACAGAGACAGAAGTAAGAGCTGAGGAAGAGACAAAAG
CTCCCCCAAATGAAATGGGATCTGATGCTGAGAACGAAGCACCTGTGGAGGCTTCTGAGTTGTCTGACAATCCAGGGCTTCTAGGAGAAGATTCACTAAA
AGAGACAGTGGTTCCCATATTTGAAGCAACGCCTGGATTTGAAAAGTCGCTGGAAAACATAACAGCTCTGAGGAAAGAAGGAGGAGGGGAAAGACTGAGY
GAAGCCAGAGACACAGAGCACAAAGACAGAGAAGAGCTGTCCAGCAGGGAGAATAGGGCCCTGAAGGAAGGGCACCGCCAAGATGGAGAGGGGGCCTTAG
CAGCTCCTGAAGCTGAGCCAGCAGGAAAGGTGCAGGCCCCTGAGGGGCTGATCCCAGCCACAGGCCAGGCAGAGGAGCTAGCAGCCAAAGATCACGACTC
CTGCGCAGGACTGGAGGGGAGAGCTGAAGGGCAAGGAGGAGTGGATGTCGTGCTAAGGACCCAGGAAGCTGTTGCTGAGGAAGATCCCATAATGGCAGAA
AAGTTCAGGGAGGAAGCGGTGGATGAGGACCCAGAGGAGGAAGAGGACAAAGAGTGCACTCTGGAGACAGAAGCGATGCAGGACAGGAACTCGGAAGGGG
ACGGGGACATGGAAGGAGAAGGAAACACACAAAAGAATGAGGGCATGGGAGGAGGAAGGGTTGTGGCTGTGGAAGTTCTACACGGAGGTGGTGAAACGGC
AGAAACAGCCGCAGAGGAGAGGGAGGTGTTGGCAGGTTCGGAGACAGCCGAGGAGAAAACAATAGCAAATAAAGCCTCCTCCTTTTCAGATGTTGCTGAG
GAAGAAACCTGGCACCAACAGGATGAGTTAGTAGGAAAAACAGCAGCTGCAGGGAAGGTGGTGGTAGAGGAATTAGCACGGAGTGGGGAGGAAGTGCCAG
CAGCAGAGGAGATGACAGTGACATATACAACAGAGGCTGGGGTGGGCACTCCAGGAGCCCTGGAGCGGAAGACCTCAGGGCTAGGACAGGAGCAAGAGGA
AGGGTCAGAGGGCCAGGAGGCAGCCACTGGGAGTGGCGATGGGAGGCAGGAGACAGGAGCAGCTGAAAAATTCCGATTAGGATTATCACGGGAGGGAGAG
AGGGAATTGAGTCCGGAGAGTCTACAGGCGATGGCAACACTTCCAGTGAAGCCTGATTTCACTGAAACCCGAGAGAAGCAACAGCATATGGTGCAAGGAG
AAAGCGAGACTGCAGATGTTTCCCCCAACAACGTGCAGGTCTAGGAGACTTGCTGGCAGACGGATAATTTAAAGATGTCTTCTGAAGATGTAAAGAGTGG
AGAAAGATTCACGCAAGCATCTCACCAGGATTCTTGATTTTCTCTCTCTCCTCTTTAGTTGCTGGTTGCGCTTGTCTGAGATGATTCCCAATCTGTCAGC
CCTGGTCAGTAGCTCAGTAAGCACCTTGAGAATAGCTCAAGTAGATCTGTAGGACCCTTCTTAGAAGCAGTGGTTCCTCATGGAGAAACTTGTGAGGCTG
TTACACATTCTACACACCTAACATTATTTTCAAACAAAAATGATAATTTTCAGATGCTTGACTTTTACCAAAGATCACTGGAAGGCCCAGTCCTAATGTT
AGGGGTTTGTTTAAAGTCCTTTTTATTTTACAATACAGAGCCCCAGTCAATTCCACAATCTCAATTTCATACATGGGAATTTTATTTAAAAATCTGTGGT
TTGGGGCTTTAATGAATTGGCCTGTGAAAATGAGCTCTAAATTTCCTCCCACGTACACTCAAAACTCAAGATTGCTCCAAATCTCTAAGTTCTTCCAGCA
AAAGATTTCTTGGCATGTATATTCACTTATACTTAGAAATATTCATTCTTTTAATTTATGCCAGAATAACAAAGTGGAAATCTTATTTCAAAATGCTSTT
TGTTTTTTTGTGTGTGTTTCTGTAGTTCTGCTTTCTGGGGTAGACTAGTAAAATGGTAGCTTCCAGCATTTTGTCCCTGGGGCCTTCTTTATAGGGCCAC
TCAAATTTAAATAAAAGTAGTAAATAATTTAGCTAAGTGGAATAAGTATAATAATTATAGTGGTAAGCATAGCACATCAGCATTATGCCAACATTCTAGA
CTCTTTAGTTGATGTCATTAAATGGAAAAGAAACTTGGATTAAATRAGTGTGCTGCTCACCTTCCCAAGTTCTGTTATTTCAAACCTGTGAACTAACCTT
GCAGTTCATTATAAATCAACAGTAACAACTGCATTCTAAATTACTCCCTGATATTATTTTCTAGTTGTGTATCAGCCTGTCTCCTAGGGGTTTTCATTTC
CCTGAAGACATACAAGTGCCCCAGAGCGCATGTATATGTCTACCATTTCTCTATATGAGAAGGTAAAAAAAATTTCCTTAAGCAGTGATTTTCCAGCCAG
AATATACATTAGATTTTCATGGGACGCTTTTATAAATGACTCAACCCTTTTCCCCACCCCAGAGATTCAGACTTAATTCGTTTTAGATGGATCTACACAT
CAGTATATATATATTTTTAACTTTTCACTTGATTCTTCTCTGTAGCCAAGGTTGAGAACCGCTGTTCTAAATCATCATATAATCCATGCTGGCCACATTA
CACTCAAGGTCCCTAGGGACCAGGCATATTATCATAGTAGGTATTTTCCATTTTAATGTGTAATGGAGCCATTCAATGATCAAAAATACACTGGACCAGA
TAGTAGACTGGTCCCTTGATCAGAAGCATCAGCACATCAGCATCACCTGGAAATTGTTCCCAGCCTTTGTCTCCTACCTACTAAATTAGAAACTCTTGGT
GGGTTCCAGTAATCCATAGCTTAACAAGCCCTGCAGTTAATACTGATGTACACTGATGTCCAAAAACTGCTGTCATGGACTATTGATTGTATTGAGGATT
AGTCTCAGTTGGAAAGCCAACTACAGAGGCATTTTGAACTTTCTTTCTTTGCCTCTCTATGTCTCTCTGTCTTTTCCTGTCTTCTGATTTATCTGTCTTT
CTTTCTCTAGTAAATGGCACTCAATATAAAAGTGGTGGAGTCAATCTTAAACTTATTTTTATTATGATTGTATTGATACATGCACGAAGTCCCTCTGCCC
TACTCCCTATTCAAGGATATTACTCACTGCACATCATAAATCTCCATCATCTGTCTTAAAGTTTTATGAGTAGATTTCATCTACATTATATTCAAGTTCA
TTTATTACTGAGCTGTATTACTGTGGAGCTCTAACAGTATTTGTTTCCTGATTTCAAACTCAATGCTACAGAGCACTTTGAATACATCACACCTTATAGG
AAAGATAGTAAATGTATTAATCCCATTGAAAAATTAGTTTTGTACAATGTGCTAAATAGTATTGCATTGGATTACTTTTATATTTAACACACTCCATCAA
AACATCCCATAACATAATTTTACAATCTGCATGTGAATTTAACTGTGAAATTCAGTATTGTGATATTTTGAATAAGTGAATTCTTTCTCTGCAAATACTA
TGTTGATAAAATTACTTGTATGTTCCCCTGAAATGGTTTGTTTCCTGTTTCTTCATTATTAAAACATAAATCAATCATATGTTTAC

Protein Sequence    (SEQ ID NO:792):
MNFMVDETAAINSNKESQQLVQKTYTLEKKEAMEEDEAPQHRDADIVQGKGEAALWGEAGAVHEAPLRAWKPTAEQPELAEEFTEKREIPPGIERGAEGA
AEAEGVRRLGEGGSDPIGQAAAKDAVGLSKDEAPEKQALMLTVLETDKAASEGEQGLEKAVLANEAAALNLEHLHEVAALREAATSEEGEAEGGVAVSDV
GESEEEASIDLEDTGPMEDTASKREDGSEEAILGGEEPAKERKEVMRTETRLSPFTGEAEASRMQVSEGSPEEGSLAKEAFLCKEDVEGEEMVTEAEANR
EDDRKEILPKELDLARERRKAERPKTSLRKTDSEREEVTRANALKDEDAFKEEQKLKAEEGETETEVRAEEETKAPPNEMGSDAENEAPVEASELSDNPG
LLGEDSLKETVVPIFEATPGFEKSLENITALRKEGGGERLSEARDTEHKDREELSSRENRALKEGHRQDGEGALAAPEAEPAGKVQAPEGLIPATGQAEE
LAAKDHDSCAGLEGRAEGQGGVDVVLRTQEAVAEEDPIMAEKFREEAVDEDPEEEEDKECTLETEAMQDRNSEGDGDMEGEGNTQKNEGMGGGRVVAVEV
LHGGGETAETAAEEREVLAGSETAEEKTIANKASSFSDVAEEETWHQQDELVGKTAAAGKVVVEELARSGEEVPAAEEMTVTYTTEAGVGTPGALERKTS
GLGQEQEEGSEGQEAATGSGDGRQETGAAEKFRLGLSREGERELSPESLQAMATLPVKPDFTETREKQQHMVQGESETADVSPNNVQV


SNP Information

Context             (SEQ ID NO:2963):
GCAAAAGATTTCTTGGCATGTATATTCACTTATACTTAGAAATATTCATTCTTTTAATTTATGCCAGAATAACAAAGTGGAAATCTTATTTCAAAATGCT
S
TTTGTTTTTTTGTGTGTGTTTCTGTAGTTCTGCTTTCTGGGGTAGACTAGTAAAATGGTAGCTTCCAGCATTTTGTCCCTGGGGCCTTCTTTATAGGGCC
Celera SNP ID:            hCV29321440
SNP Position Transcript:  3598
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:792, None   



Context             (SEQ ID NO:2964):
GTATAATAATTATAGTGGTAAGCATAGCACATCAGCATTATGCCAACATTCTAGACTCTTTAGTTGATGTCATTAAATGGAAAAGAAACTTGGATTAAAT
R
AGTGTGCTGCTCACCTTCCCAAGTTCTGTTATTTCAAACCTGTGAACTAACCTTGCAGTTCATTATAAATCAACAGTAACAACTGCATTCTAAATTACTC
Celera SNP ID:            hCV2730347
SNP Position Transcript:  3846
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:792, None   



Context             (SEQ ID NO:2965):
AAGAGACAGTGGTTCCCATATTTGAAGCAACGCCTGGATTTGAAAAGTCGCTGGAAAACATAACAGCTCTGAGGAAAGAAGGAGGAGGGGAAAGACTGAG
Y
GAAGCCAGAGACACAGAGCACAAAGACAGAGAAGAGCTGTCCAGCAGGGAGAATAGGGCCCTGAAGGAAGGGCACCGCCAAGATGGAGAGGGGGCCTTAG
Celera SNP ID:            hCV2730348
SNP Position Transcript:  1900
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,5)   total(C,3|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:792, 441, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2966):
AAAGGGAATTGTCAGAAACTAAAGACAAATTTAATTGGCTTTACACTTTGGCCTAGAATCATACCACACTGGGTGATGACACTTAGAAATGCCCATCACC
H
TCATCATCATCATCATCATCATCATCATCATTGCTGTTATTATTAAGTGCCTAGATACTTGCTAATAAGTGGAAGATGAAGATGCTCTCTCTATATTATT
Celera SNP ID:            hCV27032893
SNP Position Transcript:  267
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|A,1|-,15)   total(A,1|C,1|-,15|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:792, None   



Context             (SEQ ID NO:2967):
GTCCTGGCTCTTGGTGCACCAACAATGAATTTCATGGTGGATGAAACAGCAGCAATCAACTCAAACAAGGAATCCCAGCAATTGGTGCAAAAAACGTATA
Y
ACTGGAGAAGAAAGAAGCAATGGAGGAAGATGAAGCGCCCCAGCACAGAGATGCTGACATAGTACAGGGAAAAGGGGAGGCAGCACTGTGGGGAGAAGCA
Celera SNP ID:            hCV25649564
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:792, 26, (T,ACA)   (I,ATA)   



Gene Number:                 45
Celera Gene:                 hCG1744287 - 207000006159771
Celera Transcript:           hCT1782507 - 207000006159758
Public Transcript Accession: 
Celera Protein:              hCP1731240 - 207000006159753
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(8539083..8605835)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:96):
ATATGGCCTGATACACCCATCTCATCTTGGGAATGGGCTAGCCAAAGGTACCAGAAAACTCAAAGGTCTTTGGCTAAAATCCYCTGTATCCTCCAGCAGT
AACTTTGCCATTAGGACTAGAAATACKCAAAGTCCAATGAGTAGGATTTCCTCTCCCCTAGATAGTACTTRGATGGGTGCTTTCCATGCTTGCCAAGGGC
AAGAAGGCAGTGATGAAGTTCAGGAACTCCATAGGCAATTCACAGAGAATGAATTCATATCAACTTCCAAACATTAACAGTTACATGATGCCTATTCCTC
CTCCACTTCCCCCAACTGGGAAAATCACAAGAGAAAATAGATCTGAAACATGGAGAAGGAGAAGATTTCGTCCAACCACTGCTSCAAATGGCTTAGAACC
TCTTTTGACAAAGGATTCAAGAAGGATTCATAAAACATCCTTACATAGTAATGCAGCTATTACAATGATCTATTTGGGGAAAAATGTGCACCTATCTTCT
GATAATCCTGACTTCCGGGATGAAATTAAAGTTTATCAGCAGCACTGTGGTGGGGAAAACCTTTGTGTCTACAAAGGCAAACTACTTGAAAAAGAGACCT
TTCAGTTTATTTCCAAAAGGCATCATGGTTTCCCCTTCAGTCTCACCTTTTTCCTGAATGGGATGCAGGTGAACAGGTTAAGCTCCTGTTGTGAATACAA
GCATCGGAAAGGTTCCAGGCTTGGAGGCAAACGAGGCTACTTTGGGTTTGTGTGTGTTGAGAGATCATCTCCTTGCTACAAGTGCATTATTGCAATGGGC
CTTGACAAAAAACCGTCTTTGCCGAAATCTAGGAAAGAAAAGAGCACTGAGAAAGGAGAGGAACTGAAGAAGGCTGAGGGGAAAGTGAGGAAAGAGAGAG
AGTATGTGATACCAAAAAGAAATGAGATCAAGGAGAACAAAACCTCTGTTTCAGCCAAATTTTCAGCTCAAGAAATAAAAACAGGGCTCAAAGAAGTGGT
AACTGCTGTGGAGGAAATGACAAGTAAAGGAAAACCAGGACAAGAAGTCTTGGAAGACGACCAGGAAAATACTTTAAAATATGAGTATGAAGAAGACTTT
GAAGTAGATGAGGAGAAACAAGGTGAAAAATCTAATGAAGAAGGACAGGCTGATGTTCAAATGAATGGAATACCGCAGTCACCTTTGGATGATAAAAAAG
ATAATTTAGACCCTGAAAAAGAGAGTGAAACCTCATCACAGAAGGCACCAGATGCCCRTGACAATGTGAAAGATGAGAATGATGGATGCTCTGAGAGTGA
ACTGGAAGAGGATAAACAAGGCGAGTTGTTCAGCTTATCATGTAACATAGGCTGTTTACTGAATATGAAAACTGCTTYATCAACCTCATCCAGAAGTCAC
CCTTATTCTAGTGACAGTGAGGATGAATCTGCAGTGGGGGACAGGGAAGCCCACACTGACAGCAGCACAGATGAAAGTGCCAGAAGGTCATCTTCTCAGG
AACTGAGTGAAAATGATAAGCCAAGAAAGTCTCACCTTCCARTTGAGGAATCCTTAGAAATTGAAATTGAAGACSAAGAAATAACAAAAGCAGATGTGGA
GACCAAGCCGATGCCAATAGAYGAAAGCTTTGAGAATGTTCTTAAAGAAGGAACRGAGAAAGGAACCCAAGAGATTGCAGAGGGTTTATCTGAGAAGTCC
GGGAAACRTGTTTCTGCAGAAGAAAAGGAAAAGGATAAGAGTAAGCTTTGGGAAGAAAGCACTGCTCAGGTGAAGGACAAAAAGGCAGGTCTCCCTGGGT
TGGAGGAAGGTGGAAAGGATTCATTGCCATTAGCCTATGTCCTGGCTCTTGGTGCACCAACAATGAATTTCATGGTGGATGAAACAGCAGCAATCAACTC
AAACAAGGAATCCCAGCAATTGGTGCAAAAAACGTATAYACTGGAGAAGAAAGAAGCAATGGAGGAAGATGAAGCGCCCCAGCACAGAGATGCTGACATA
GTACAGGGAAAAGGGGAGGCAGCACTGTGGGGAGAAGCAGGAGCTGTTCATGAGGCTCCCTTGAGGGCGTGGAAGCCAACAGCAGAGCAGCCAGAATTGG
CAGAAGAGTTTACAGAAAAAAGGGAGATCCCTCCAGGCATAGAAAGGGGGGCAGAGGGAGCAGCAGAAGCAGAAGGGGTCAGAAGGCTGGGTGAAGGGGG
GTCAGACCCCATAGGACAAGCAGCAGCAAAAGATGCTGTGGGTCTGAGTAAAGATGAGGCTCCTGAAAAGCAAGCCTTGATGCTCACAGTGCTTGAGACA
GACAAAGCAGCTTCTGAAGGGGAACAGGGTTTAGAGAAGGCAGTGCTTGCAAATGAAGCAGCAGCCCTGAACTTGGAGCATCTTCATGAAGTAGCAGCCC
TGAGAGAGGCAGCGACATCGGAGGAGGGAGAGGCTGAGGGTGGGGTGGCTGTGAGTGATGTCGGAGAAAGTGAAGAGGAAGCATCCATAGACCTAGAGGA
CACAGGACCCATGGAGGACACAGCATCAAAGAGAGAGGACGGTTCTGAAGAGGCAATTCTTGGGGGAGAGGAACCAGCCAAAGAGAGAAAAGAGGTTATG
AGAACAGAAACACGCTTGAGCCCCTTCACAGGAGAGGCAGAGGCAAGCCGGATGCAGGTTTCGGAGGGCAGCCCTGAGGAAGGAAGCCTTGCAAAGGAAG
CCTTCCTTTGCAAGGAAGATGTGGAAGGGGAAGAGATGGTGACTGAGGCAGAAGCTAATAGGGAAGATGATAGGAAAGAAATTTTACCCAAGGAATTAGA
TTTAGCAAGAGAGCGAAGGAAAGCTGAGAGGCCAAAAACATCTCTGAGGAAAACTGACTCTGAGAGAGAAGAGGTGACAAGGGCAAATGCACTCAAGGAT
GAAGATGCTTTTAAAGAAGAGCAAAAACTTAAAGCGGAAGAAGGGGAAACAGAGACAGAAGTAAGAGCTGAGGAAGAGACAAAAGCTCCCCCAAATGAAA
TGGGATCTGATGCTGAGAACGAAGCACCTGTGGAGGCTTCTGAGTTGTCTGACAATCCAGGGCTTCTAGGAGAAGATTCACTAAAAGAGACAGTGGTTCC
CATATTTGAAGCAACGCCTGGATTTGAAAAGTCGCTGGAAAACATAACAGCTCTGAGGAAAGAAGGAGGAGGGGAAAGACTGAGYGAAGCCAGAGACACA
GAGCACAAAGACAGAGAAGAGCTGTCCAGCAGGGAGAATAGGGCCCTGAAGGAAGGGCACCGCCAAGATGGAGAGGGGGCCTTAGCAGCTCCTGAAGCTG
AGCCAGCAGGAAAGGTGCAGGCCCCTGAGGGGCTGATCCCAGCCACAGGCCAGGCAGAGGAGCTAGCAGCCAAAGATCACGACTCCTGCGCAGGACTGGA
GGGGAGAGCTGAAGGGCAAGGAGGAGTGGATGTCGTGCTAAGGACCCAGGAAGCTGTTGCTGAGGAAGATCCCATAATGGCAGAAAAGTTCAGGGAGGAA
GCGGTGGATGAGGACCCAGAGGAGGAAGAGGACAAAGAGTGCACTCTGGAGACAGAAGCGATGCAGGACAGGAACTCGGAAGGGGACGGGGACATGGAAG
GAGAAGGAAACACACAAAAGAATGAGGGCATGGGAGGAGGAAGGGTTGTGGCTGTGGAAGTTCTACACGGAGGTGGTGAAACGGCAGAAACAGCCGCAGA
GGAGAGGGAGGTGTTGGCAGGTTCGGAGACAGCCGAGGAGAAAACAATAGCAAATAAAGCCTCCTCCTTTTCAGATGTTGCTGAGGAAGAAACCTGGCAC
CAACAGGATGAGTTAGTAGGAAAAACAGCAGCTGCAGGGAAGGTGGTGGTAGAGGAATTAGCACGGAGTGGGGAGGAAGTGCCAGCAGCAGAGGAGATGA
CAGTGACATATACAACAGAGGCTGGGGTGGGCACTCCAGGAGCCCTGGAGCGGAAGACCTCAGGGCTAGGACAGGAGCAAGAGGAAGGGTCAGAGGGCCA
GGAGGCAGCCACTGGGAGTGGCGATGGGAGGCAGGAGACAGGAGCAGCTGAAAAATTCCGATTAGGATTATCACGGGAGGGAGAGAGGGAATTGAGTCCG
GAGAGTCTACAGGCGATGGCAACACTTCCAGTGAAGCCTGATTTCACTGAAACCCGAGAGAAGCAACAGCATATGGTGCAAGGAGAAAGCGAGACTGCAG
ATGTTTCCCCCAACAACGTGCAGGTCTAGGAGACTTGCTGGCAGACGGATAATTTAAAGATGTCTTCTGAAGATGTAAAGAGTGGAGAAAGATTCACGCA
AGCATCTCACCAGGATTCTTGATTTTCTCTCTCTCCTCTTTAGTTGCTGGTTGCGCTTGTCTGAGATGATTCCCAATCTGTCAGCCCTGGTCAGTAGCTC
AGTAAGCACCTTGAGAATAGCTCAAGTAGATCTGTAGGACCCTTCTTAGAAGCAGTGGTTCCTCATGGAGAAACTTGTGAGGCTGTTACACATTCTACAC
ACCTAACATTATTTTCAAACAAAAATGATAATTTTCAGATGCTTGACTTTTACCAAAGATCACTGGAAGGCCCAGTCCTAATGTTAGGGGTTTGTTTAAA
GTCCTTTTTATTTTACAATACAGAGCCCCAGTCAATTCCACAATCTCAATTTCATACATGGGAATTTTATTTAAAAATCTGTGGTTTGGGGCTTTAATGA
ATTGGCCTGTGAAAATGAGCTCTAAATTTCCTCCCACGTACACTCAAAACTCAAGATTGCTCCAAATCTCTAAGTTCTTCCAGCAAAAGATTTCTTGGCA
TGTATATTCACTTATACTTAGAAATATTCATTCTTTTAATTTATGCCAGAATAACAAAGTGGAAATCTTATTTCAAAATGCTSTTTGTTTTTTTGTGTGT
GTTTCTGTAGTTCTGCTTTCTGGGGTAGACTAGTAAAATGGTAGCTTCCAGCATTTTGTCCCTGGGGCCTTCTTTATAGGGCCACTCAAATTTAAATAAA
AGTAGTAAATAATTTAGCTAAGTGGAATAAGTATAATAATTATAGTGGTAAGCATAGCACATCAGCATTATGCCAACATTCTAGACTCTTTAGTTGATGT
CATTAAATGGAAAAGAAACTTGGATTAAATRAGTGTGCTGCTCACCTTCCCAAGTTCTGTTATTTCAAACCTGTGAACTAACCTTGCAGTTCATTATAAA
TCAACAGTAACAACTGCATTCTAAATTACTCCCTGATATTATTTTCTAGTTGTGTATCAGCCTGTCTCCTAGGGGTTTTCATTTCCCTGAAGACATACAA
GTGCCCCAGAGCGCATGTATATGTCTACCATTTCTCTATATGAGAAGGTAAAAAAAATTTCCTTAAGCAGTGATTTTCCAGCCAGAATATACATTAGATT
TTCATGGGACGCTTTTATAAATGACTCAACCCTTTTCCCCACCCCAGAGATTCAGACTTAATTCGTTTTAGATGGATCTACACATCAGTATATATATATT
TTTAACTTTTCACTTGATTCTTCTCTGTAGCCAAGGTTGAGAACCGCTGTTCTAAATCATCATATAATCCATGCTGGCCACATTACACTCAAGGTCCCTA
GGGACCAGGCATATTATCATAGTAGGTATTTTCCATTTTAATGTGTAATGGAGCCATTCAATGATCAAAAATACACTGGACCAGATAGTAGACTGGTCCC
TTGATCAGAAGCATCAGCACATCAGCATCACCTGGAAATTGTTCCCAGCCTTTGTCTCCTACCTACTAAATTAGAAACTCTTGGTGGGTTCCAGTAATCC
ATAGCTTAACAAGCCCTGCAGTTAATACTGATGTACACTGATGTCCAAAAACTGCTGTCATGGACTATTGATTGTATTGAGGATTAGTCTCAGTTGGAAA
GCCAACTACAGAGGCATTTTGAACTTTCTTTCTTTGCCTCTCTATGTCTCTCTGTCTTTTCCTGTCTTCTGATTTATCTGTCTTTCTTTCTCTAGTAAAT
GGCACTCAATATAAAAGTGGTGGAGTCAATCTTAAACTTATTTTTATTATGATTGTATTGATACATGCACGAAGTCCCTCTGCCCTACTCCCTATTCAAG
GATATTACTCACTGCACATCATAAATCTCCATCATCTGTCTTAAAGTTTTATGAGTAGATTTCATCTACATTATATTCAAGTTCATTTATTACTGAGCTG
TATTACTGTGGAGCTCTAACAGTATTTGTTTCCTGATTTCAAACTCAATGCTACAGAGCACTTTGAATACATCACACCTTATAGGAAAGATAGTAAATGT
ATTAATCCCATTGAAAAATTAGTTTTGTACAATGTGCTAAATAGTATTGCATTGGATTACTTTTATATTTAACACACTCCATCAAAACATCCCATAACAT
AATTTTACAATCTGCATGTGAATTTAACTGTGAAATTCAGTATTGTGATATTTTGAATAAGTGAATTCTTTCTCTGCAAATACTATGTTGATAAAATTAC
TTGTATGTTCCCCTGAAATGGTTTGTTTCCTGTTTCTTCATTATTAAAACATAAATCAATCATATGTTTACAGATACA

Protein Sequence    (SEQ ID NO:793):
MLAKGKKAVMKFRNSIGNSQRMNSYQLPNINSYMMPIPPPLPPTGKITRENRSETWRRRRFRPTTAPNGLEPLLTKDSRRIHKTSLHSNAAITMIYLGKN
VHLSSDNPDFRDEIKVYQQHCGGENLCVYKGKLLEKETFQFISKRHHGFPFSLTFFLNGMQVNRLSSCCEYKHRKGSRLGGKRGYFGFVCVERSSPCYKC
IIAMGLDKKPSLPKSRKEKSTEKGEELKKAEGKVRKEREYVIPKRNEIKENKTSVSAKFSAQEIKTGLKEVVTAVEEMTSKGKPGQEVLEDDQENTLKYE
YEEDFEVDEEKQGEKSNEEGQADVQMNGIPQSPLDDKKDNLDPEKESETSSQKAPDARDNVKDENDGCSESELEEDKQGELFSLSCNIGCLLNMKTASST
SSRSHPYSSDSEDESAVGDREAHTDSSTDESARRSSSQELSENDKPRKSHLPIEESLEIEIEDQEITKADVETKPMPIDESFENVLKEGTEKGTQEIAEG
LSEKSGKHVSAEEKEKDKSKLWEESTAQVKDKKAGLPGLEEGGKDSLPLAYVLALGAPTMNFMVDETAAINSNKESQQLVQKTYTLEKKEAMEEDEAPQH
RDADIVQGKGEAALWGEAGAVHEAPLRAWKPTAEQPELAEEFTEKREIPPGIERGAEGAAEAEGVRRLGEGGSDPIGQAAAKDAVGLSKDEAPEKQALML
TVLETDKAASEGEQGLEKAVLANEAAALNLEHLHEVAALREAATSEEGEAEGGVAVSDVGESEEEASIDLEDTGPMEDTASKREDGSEEAILGGEEPAKE
RKEVMRTETRLSPFTGEAEASRMQVSEGSPEEGSLAKEAFLCKEDVEGEEMVTEAEANREDDRKEILPKELDLARERRKAERPKTSLRKTDSEREEVTRA
NALKDEDAFKEEQKLKAEEGETETEVRAEEETKAPPNEMGSDAENEAPVEASELSDNPGLLGEDSLKETVVPIFEATPGFEKSLENITALRKEGGGERLS
EARDTEHKDREELSSRENRALKEGHRQDGEGALAAPEAEPAGKVQAPEGLIPATGQAEELAAKDHDSCAGLEGRAEGQGGVDVVLRTQEAVAEEDPIMAE
KFREEAVDEDPEEEEDKECTLETEAMQDRNSEGDGDMEGEGNTQKNEGMGGGRVVAVEVLHGGGETAETAAEEREVLAGSETAEEKTIANKASSFSDVAE
EETWHQQDELVGKTAAAGKVVVEELARSGEEVPAAEEMTVTYTTEAGVGTPGALERKTSGLGQEQEEGSEGQEAATGSGDGRQETGAAEKFRLGLSREGE
RELSPESLQAMATLPVKPDFTETREKQQHMVQGESETADVSPNNVQV


SNP Information

Context             (SEQ ID NO:2968):
TAGAAATTGAAATTGAAGACCAAGAAATAACAAAAGCAGATGTGGAGACCAAGCCGATGCCAATAGACGAAAGCTTTGAGAATGTTCTTAAAGAAGGAAC
R
GAGAAAGGAACCCAAGAGATTGCAGAGGGTTTATCTGAGAAGTCCGGGAAACATGTTTCTGCAGAAGAAAAGGAAAAGGATAAGAGTAAGCTTTGGGAAG
Celera SNP ID:            hCV25649575
SNP Position Transcript:  1655
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:793, 490, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:793, 490, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:2969):
ATATGGCCTGATACACCCATCTCATCTTGGGAATGGGCTAGCCAAAGGTACCAGAAAACTCAAAGGTCTTTGGCTAAAATCC
Y
CTGTATCCTCCAGCAGTAACTTTGCCATTAGGACTAGAAATACTCAAAGTCCAATGAGTAGGATTTCCTCTCCCCTAGATAGTACTTGGATGGGTGCTTT
Celera SNP ID:            hCV27848820
SNP Position Transcript:  83
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:793, None



Context             (SEQ ID NO:2970):
CAAGAAAGTCTCACCTTCCAATTGAGGAATCCTTAGAAATTGAAATTGAAGACCAAGAAATAACAAAAGCAGATGTGGAGACCAAGCCGATGCCAATAGA
Y
GAAAGCTTTGAGAATGTTCTTAAAGAAGGAACGGAGAAAGGAACCCAAGAGATTGCAGAGGGTTTATCTGAGAAGTCCGGGAAACATGTTTCTGCAGAAG
Celera SNP ID:            hCV25649576
SNP Position Transcript:  1622
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,40)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:793, 479, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:2971):
GCAAAAGATTTCTTGGCATGTATATTCACTTATACTTAGAAATATTCATTCTTTTAATTTATGCCAGAATAACAAAGTGGAAATCTTATTTCAAAATGCT
S
TTTGTTTTTTTGTGTGTGTTTCTGTAGTTCTGCTTTCTGGGGTAGACTAGTAAAATGGTAGCTTCCAGCATTTTGTCCCTGGGGCCTTCTTTATAGGGCC
Celera SNP ID:            hCV29321440
SNP Position Transcript:  4883
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:793, None   



Context             (SEQ ID NO:2972):
AAGTGCCAGAAGGTCATCTTCTCAGGAACTGAGTGAAAATGATAAGCCAAGAAAGTCTCACCTTCCAATTGAGGAATCCTTAGAAATTGAAATTGAAGAC
S
AAGAAATAACAAAAGCAGATGTGGAGACCAAGCCGATGCCAATAGACGAAAGCTTTGAGAATGTTCTTAAAGAAGGAACGGAGAAAGGAACCCAAGAGAT
Celera SNP ID:            hCV25649586
SNP Position Transcript:  1575
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,38|G,2)   total(C,74|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 464, (Q,CAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 464, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:2973):
CAGGGAAGCCCACACTGACAGCAGCACAGATGAAAGTGCCAGAAGGTCATCTTCTCAGGAACTGAGTGAAAATGATAAGCCAAGAAAGTCTCACCTTCCA
R
TTGAGGAATCCTTAGAAATTGAAATTGAAGACCAAGAAATAACAAAAGCAGATGTGGAGACCAAGCCGATGCCAATAGACGAAAGCTTTGAGAATGTTCT
Celera SNP ID:            hCV25649587
SNP Position Transcript:  1542
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,38)   total(A,69|G,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 453, (I,ATT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,3)   caucasian(A,40)   total(A,69|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 453, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:2974):
TGGCTAAAATCCTCTGTATCCTCCAGCAGTAACTTTGCCATTAGGACTAGAAATACTCAAAGTCCAATGAGTAGGATTTCCTCTCCCCTAGATAGTACTT
R
GATGGGTGCTTTCCATGCTTGCCAAGGGCAAGAAGGCAGTGATGAAGTTCAGGAACTCCATAGGCAATTCACAGAGAATGAATTCATATCAACTTCCAAA
Celera SNP ID:            hCV27837197
SNP Position Transcript:  171
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:793, None



Context             (SEQ ID NO:2975):
CCGATGCCAATAGACGAAAGCTTTGAGAATGTTCTTAAAGAAGGAACGGAGAAAGGAACCCAAGAGATTGCAGAGGGTTTATCTGAGAAGTCCGGGAAAC
R
TGTTTCTGCAGAAGAAAAGGAAAAGGATAAGAGTAAGCTTTGGGAAGAAAGCACTGCTCAGGTGAAGGACAAAAAGGCAGGTCTCCCTGGGTTGGAGGAA
Celera SNP ID:            hCV8909292
SNP Position Transcript:  1708
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,36|G,2)   total(A,73|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 508, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,36|G,4)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 508, (H,CAT)   (R,CGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;no_pop(G,-|A,-)   ;JBIC-allele(G,403|A,1098)   total(G,403|A,1098)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 508, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:2976):
CAAATGAATGGAATACCGCAGTCACCTTTGGATGATAAAAAAGATAATTTAGACCCTGAAAAAGAGAGTGAAACCTCATCACAGAAGGCACCAGATGCCC
R
TGACAATGTGAAAGATGAGAATGATGGATGCTCTGAGAGTGAACTGGAAGAGGATAAACAAGGCGAGTTGTTCAGCTTATCATGTAACATAGGCTGTTTA
Celera SNP ID:            hCV8909269
SNP Position Transcript:  1258
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 358, (H,CAT)   (R,CGT)      358, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:2977):
CATGATGCCTATTCCTCCTCCACTTCCCCCAACTGGGAAAATCACAAGAGAAAATAGATCTGAAACATGGAGAAGGAGAAGATTTCGTCCAACCACTGCT
S
CAAATGGCTTAGAACCTCTTTTGACAAAGGATTCAAGAAGGATTCATAAAACATCCTTACATAGTAATGCAGCTATTACAATGATCTATTTGGGGAAAAA
Celera SNP ID:            hCV25985442
SNP Position Transcript:  384
SNP Source:               Applera
Population(Allele,Count): african american(C,20|G,8)   caucasian(C,19|G,11)   total(C,39|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 67, (P,CCA)   (A,GCA)   



Context             (SEQ ID NO:2978):
GTATAATAATTATAGTGGTAAGCATAGCACATCAGCATTATGCCAACATTCTAGACTCTTTAGTTGATGTCATTAAATGGAAAAGAAACTTGGATTAAAT
R
AGTGTGCTGCTCACCTTCCCAAGTTCTGTTATTTCAAACCTGTGAACTAACCTTGCAGTTCATTATAAATCAACAGTAACAACTGCATTCTAAATTACTC
Celera SNP ID:            hCV2730347
SNP Position Transcript:  5131
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:793, None   



Context             (SEQ ID NO:2979):
AAGAGACAGTGGTTCCCATATTTGAAGCAACGCCTGGATTTGAAAAGTCGCTGGAAAACATAACAGCTCTGAGGAAAGAAGGAGGAGGGGAAAGACTGAG
Y
GAAGCCAGAGACACAGAGCACAAAGACAGAGAAGAGCTGTCCAGCAGGGAGAATAGGGCCCTGAAGGAAGGGCACCGCCAAGATGGAGAGGGGGCCTTAG
Celera SNP ID:            hCV2730348
SNP Position Transcript:  3185
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,5)   total(C,3|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:793, 1000, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:2980):
AATGATGGATGCTCTGAGAGTGAACTGGAAGAGGATAAACAAGGCGAGTTGTTCAGCTTATCATGTAACATAGGCTGTTTACTGAATATGAAAACTGCTT
Y
ATCAACCTCATCCAGAAGTCACCCTTATTCTAGTGACAGTGAGGATGAATCTGCAGTGGGGGACAGGGAAGCCCACACTGACAGCAGCACAGATGAAAGT
Celera SNP ID:            hCV27854771
SNP Position Transcript:  1378
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,40)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 398, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:2981):
GTCCTGGCTCTTGGTGCACCAACAATGAATTTCATGGTGGATGAAACAGCAGCAATCAACTCAAACAAGGAATCCCAGCAATTGGTGCAAAAAACGTATA
Y
ACTGGAGAAGAAAGAAGCAATGGAGGAAGATGAAGCGCCCCAGCACAGAGATGCTGACATAGTACAGGGAAAAGGGGAGGCAGCACTGTGGGGAGAAGCA
Celera SNP ID:            hCV25649564
SNP Position Transcript:  1939
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:793, 585, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:2982):
TTGGGAATGGGCTAGCCAAAGGTACCAGAAAACTCAAAGGTCTTTGGCTAAAATCCTCTGTATCCTCCAGCAGTAACTTTGCCATTAGGACTAGAAATAC
K
CAAAGTCCAATGAGTAGGATTTCCTCTCCCCTAGATAGTACTTGGATGGGTGCTTTCCATGCTTGCCAAGGGCAAGAAGGCAGTGATGAAGTTCAGGAAC
Celera SNP ID:            hCV27850836
SNP Position Transcript:  127
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,36)   caucasian(T,40)   total(G,2|T,76)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:793, None



Gene Number:                 46
Celera Gene:                 hCG1759545 - 145000147253816
Celera Transcript:           hCT1798029 - 145000147253817
Public Transcript Accession: NM_000791
Celera Protein:              hCP1738058 - 197000064940179
Public Protein Accession:    NP_000782
Gene Symbol:                 DHFR
Protein Name:                dihydrofolate reductase
Celera Genomic Axis:         GA_x5YUV32W40L(9224894..9254717)
Chromosome:                  Chr5
OMIM number:                 126060
OMIM Information:            DIHYDROFOLATE REDUCTASE;DHFR


Transcript Sequence (SEQ ID NO:97):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTAYGTGCGGCGGCAGCTGGGGCGGGAAGGCGGSCGCTGSGGSCGCTGCRGCCGCTGCAGCGCCAGGG
TCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAAACCGCTTGCCTCGCAGGGGCTGAGC
TGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCCYGGCGAGGAGCGCGARCCCGCGG
CCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAATRGGGACGAGGGGGC
GGGGCGGCCACAATTTCGCGCCAAACTTGACCGCGCGTTCTGCTGTAACGAGCGGGCTCGGAGGTCCTCCCGCTGCTGTCATGGTTGGTTCGCTAAACTG
CATCGTCGCTGTGTCCCAGAACATGGGCATCGGCAAGAACGGGGACCTGCCCTGGCCACCGCTCAGGAATGAATTCAGATATTTCCAGAGAATGACCACA
ACCTCTTCAGTAGAAGGTAAACAGAATCTGGTGATTATGGGTAAGAAGACCTGGTTCTCCATTCCTGAGAAGAATCGACCTTTAAAGGGTAGAATTAATT
TAGTTCTCAGCAGAGAACTCAAGGAACCTCCACAAGGAGCTCATTTTCTTTCCAGAAGTCTAGATGATGCCTTAAAACTTACTGAACAACCAGAATTAGC
AAATAAAGTAGACATGGTCTGGATAGTTGGTGGCAGTTCTGTTTATAAGGAAGCCATGAATCACCCAGGCCATCTTAAACTATTTGTGACAAGGATCATG
CAAGACTTTGAAAGTGACACGTTTTTTCCAGAAATTGATTTGGAGAAATATAAACTTCTGCCAGAATACCCAGGTGTTCTCTCTGATGTCCAGGAGGAGA
AAGGCATTAAGTACAAATTTGAAGTATATGAGAAGAATGATTAATATGAAGGTGTTTTCTAGTTTAAGTTGTTCCCCCTCCCTCTGAAAAAAGTATGTAT
TTTTACATTAGAAAAGGTTTTTTGTTGACTTTAGATCTATAATTATTTCTAAGCAACTWGTTTTTATTCCCCACTACTCTTGTCTCTATCAGATACCATT
TATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCACCTGCTAYAGTGAGCTGCCATTCCACACCCATCACATGTGG
CACTCTTGCCAGTCCTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGATCCACATACCCTTCAACTGAGCAGTTTCACTAGT
GGAAATACCAAAAGMTTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTGRAAAATTGAAAACAACCTGGAAGTCC
AGTGATGGGAAAATGAGTATGTTTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTGAAAGCAGTGTATTTGCTAGGTCATA
CCAGAAATCATCAATTGAGGTAYGGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATAC
TGCTGAGATACAGGGAAATGGAGRGGGGAAAGCTGGAGTATTGATCCCRCCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGT
CCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGGCATGCACGGGAACAGTGAATGCCAAASACTTAAAGCAATTCGATGTTTAAG
TATGTAAGTTCTTTTTTTTTTAGACAGCGTTTCGCTCTTGTTGCCCAGGCTAGCATGCAATGGTGTGACCTCGGCTTACTGCAACCTCCGCCTTCCCAGA
TTCAAGCGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTRTTTTTAGTAGAGATGG
GGTTTCRCCATGTTGGTCAGGCTRGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTCRGCCTCCCAAAGTGCTGGGATTRCCGGCTTGAGCCACCA
CACCCGGCACATCTTCATTCTTTTTATGTAGTAAAAAGTATAAGGCCACACATGGTTTATTTGAAGTATTTTATAATTTAAAAAAATACAGAAGCAGGAA
AACCAATTATAAGTTCAAGTGAGGGATGATGGTTGCTTGAACCAAAGGGTTGCATGTAGTAAGAAATTGTGATTTAAGATATATTTTAAAGTTATAAGTA
GCAGGATATTCTGATGGAGTTTGACTTTGGTTTTGGGCCCASGGAGTTTCAGATGCCTTTGAGAAATGAATGAAGTAGAGAGAAAATAAAAGAAAAACYA
GCCAGGCACAGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCT
CTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTASTCAGGAAGCTGAGATKGAAGAATTAATTGAGCCCACGAGTTC
AAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGTCTCGAAAAGGAATCTGAAAACAATGGAACCATGCCTT
CATAATTCTRGAAAGTTATTTTCAACTGATAAATCTATATTCACCCAAATAATCAAGGGTGAAGGTAAAATAATACATTTTTAGACAAGCAAAGACTCAG
GGGTTACCTCCATGTGCCCTTTTTAGGGAAGCTGTTGGAGAAAATACTCCAGCAAAATGAAGGAGTACACAAACCAGAGAATGACATGAATCCAGCAAAT
AGGATCCAACACAGGCAATATTCCAGCTATGGAGCTAGCTTTAAAAAGGAACAGTAAAAATATTAATCGGTTAGCTGGGTGGAATGGCCCATGCCTGTAG
TCCCAGCTACTCAGGAGGCTCAGCAGCAGGRCGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCAYCTTAGTGAGATCCCTTCTCTTAAAAATAATAA
CTTATTGCCAGATTTGGGGCATTTGGAAAKAAGTTCATTGAAGATAAAGCAAAAGTAAAAAAAAAAAAAAAAAAACAAGGGGAAAGGGTTGGTTAGGCAA
TCATTCTAGGGCAGAAAGAAGTACAGGATAGGAAGAGCATAATACACTGTTTTTCTCAACAAGGAGCAGTATGTACACAGTCATAATGATGTGACTGCTT
AGCCCCTAAATATGGTAACTACTCTGGGACAATATGGGAGGAAAAGTGAAGATTGTGATGGTGTAAGAGCTAAATCCTCATCTGTCATATCCAGAAATCA
CTATATAATAYATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAAAGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAGK
GATGGGGCAGGGGACTGTTAGGATGCATTATAAACTGAAAAGCCTTTTTAAAATTTTATGTATTAATATATGCATTCACTTGAAAAACTAAAAAAAAACA
ATAATTTGGAAAAACCCATGAAGGTAACTAACGGAAGGAAAAACTAAGAGAATGAAAAGTATTTGCCTCTGGAAAGAACAACTGGCAGGACTGTTGTTTT
CATTGTAAGACTTTTGGAGCCATTTAATTGTACTTAACCATTTTCATCTATTTCTTTARTAAGAACAATTCCATCTTAATAAAGAGTTACACTTGTTAAT
AA

Protein Sequence    (SEQ ID NO:794):
MAARRQGPARSANPRPQFPGVCGREHAATLRAPGRGGGASPAQIGTRGRGGHNFAPNLTARSAVTSGLGGPPAAVMVGSLNCIVAVSQNMGIGKNGDLPW
PPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFSIPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSSVYKEA
MNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEYPGVLSDVQEEKGIKYKFEVYEKND


SNP Information

Context             (SEQ ID NO:2983):
ACTATATAATATATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAAAGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAG
K
GATGGGGCAGGGGACTGTTAGGATGCATTATAAACTGAAAAGCCTTTTTAAAATTTTATGTATTAATATATGCATTCACTTGAAAAACTAAAAAAAAACA
Celera SNP ID:            hCV11649909
SNP Position Transcript:  3600
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,6)      total(G,6|T,2) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2984):
GATCACTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCTCTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTA
S
TCAGGAAGCTGAGATGGAAGAATTAATTGAGCCCACGAGTTCAAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGAC
Celera SNP ID:            hCV3103206
SNP Position Transcript:  2658
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,3)      total(G,1|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2985):
CCAAAGGGTTGCATGTAGTAAGAAATTGTGATTTAAGATATATTTTAAAGTTATAAGTAGCAGGATATTCTGATGGAGTTTGACTTTGGTTTTGGGCCCA
S
GGAGTTTCAGATGCCTTTGAGAAATGAATGAAGTAGAGAGAAAATAAAAGAAAAACTAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCGCTTTGGG
Celera SNP ID:            hCV3103207
SNP Position Transcript:  2442
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,3)      total(G,2|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2986):
TAGCAGGATATTCTGATGGAGTTTGACTTTGGTTTTGGGCCCAGGGAGTTTCAGATGCCTTTGAGAAATGAATGAAGTAGAGAGAAAATAAAAGAAAAAC
Y
AGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATC
Celera SNP ID:            hCV2948458
SNP Position Transcript:  2499
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2987):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTA
Y
GTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTG
Celera SNP ID:            hCV27863089
SNP Position Transcript:  36
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2988):
CCCTTCAACTGAGCAGTTTCACTAGTGGAAATACCAAAAGCTTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTG
R
AAAATTGAAAACAACCTGGAAGTCCAGTGATGGGAAAATGAGTATGTTTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTG
Celera SNP ID:            hCV3020731
SNP Position Transcript:  1475
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,7)   total(G,3|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2989):
CTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGATCCACATACCCTTCAACTGAGCAGTTTCACTAGTGGAAATACCAAAAG
M
TTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTGAAAAATTGAAAACAACCTGGAAGTCCAGTGATGGGAAAATG
Celera SNP ID:            hCV3020732
SNP Position Transcript:  1415
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|C,6)   total(A,3|C,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2990):
GTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGTCTCGAAAAGGAATCTGAAAACAATGGAACCATGCCTTCATAATTCT
R
GAAAGTTATTTTCAACTGATAAATCTATATTCACCCAAATAATCAAGGGTGAAGGTAAAATAATACATTTTTAGACAAGCAAAGACTCAGGGGTTACCTC
Celera SNP ID:            hCV7491665
SNP Position Transcript:  2810
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,3)      total(G,3|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2991):
TTCCCCACTACTCTTGTCTCTATCAGATACCATTTATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCACCTGCTA
Y
AGTGAGCTGCCATTCCACACCCATCACATGTGGCACTCTTGCCAGTCCTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGAT
Celera SNP ID:            hCV3020733
SNP Position Transcript:  1267
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2992):
ATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATT
R
CCGGCTTGAGCCACCACACCCGGCACATCTTCATTCTTTTTATGTAGTAAAAAGTATAAGGCCACACATGGTTTATTTGAAGTATTTTATAATTTAAAAA
Celera SNP ID:            hCV27465055
SNP Position Transcript:  2184
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2993):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGG
S
CGCTGGGGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAAT
Celera SNP ID:            hCV16231132
SNP Position Transcript:  66
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2994):
CTAGTTTAAGTTGTTCCCCCTCCCTCTGAAAAAAGTATGTATTTTTACATTAGAAAAGGTTTTTTGTTGACTTTAGATCTATAATTATTTCTAAGCAACT
W
GTTTTTATTCCCCACTACTCTTGTCTCTATCAGATACCATTTATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCA
Celera SNP ID:            hCV3020734
SNP Position Transcript:  1159
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(T,-|A,-)   ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2995):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGG
S
CGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAA
Celera SNP ID:            hCV16231133
SNP Position Transcript:  75
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2996):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGGGCGCTGC
R
GCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAAACCGCTT
Celera SNP ID:            hCV16231134
SNP Position Transcript:  82
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2997):
GCGCGAACCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAAT
R
GGGACGAGGGGGCGGGGCGGCCACAATTTCGCGCCAAACTTGACCGCGCGTTCTGCTGTAACGAGCGGGCTCGGAGGTCCTCCCGCTGCTGTCATGGTTG
Celera SNP ID:            hCV26764036
SNP Position Transcript:  387
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:794, 44, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:2998):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTG
S
GGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTC
Celera SNP ID:            hCV26764037
SNP Position Transcript:  72
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:2999):
AAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAGGGGGGAAAGCTGGAGTATTGATCCC
R
CCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGG
Celera SNP ID:            hCV7442492
SNP Position Transcript:  1749
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3000):
GTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGGCATGCACGGGAACAGTGAATGCCAAA
S
ACTTAAAGCAATTCGATGTTTAAGTATGTAAGTTCTTTTTTTTTTAGACAGCGTTTCGCTCTTGTTGCCCAGGCTAGCATGCAATGGTGTGACCTCGGCT
Celera SNP ID:            hCV7442493
SNP Position Transcript:  1876
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3001):
CGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTATTTTTAGTAGAGATGGGGTTTC
R
CCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACCGGCTTGAGCCACCACACCCGG
Celera SNP ID:            hCV27465533
SNP Position Transcript:  2107
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3002):
GGAGCTAGCTTTAAAAAGGAACAGTAAAAATATTAATCGGTTAGCTGGGTGGAATGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTCAGCAGCAGG
R
CGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCACCTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAAGA
Celera SNP ID:            hCV11434548
SNP Position Transcript:  3131
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3003):
GACGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCACCTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAA
K
AAGTTCATTGAAGATAAAGCAAAAGTAAAAAAAAAAAAAAAAAAACAAGGGGAAAGGGTTGGTTAGGCAATCATTCTAGGGCAGAAAGAAGTACAGGATA
Celera SNP ID:            hCV27273222
SNP Position Transcript:  3230
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|G,3)   total(G,3|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3004):
CGGTTAGCTGGGTGGAATGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTCAGCAGCAGGACGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCA
Y
CTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAAGAAGTTCATTGAAGATAAAGCAAAAGTAAAAAAAAAAAA
Celera SNP ID:            hCV27273223
SNP Position Transcript:  3168
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3005):
CTTGGGCAACATGGCAAAGCCCCATCTCTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTACTCAGGAAGCTGAGAT
K
GAAGAATTAATTGAGCCCACGAGTTCAAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGTCTCGAAAAGGA
Celera SNP ID:            hCV27273224
SNP Position Transcript:  2674
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3006):
GTATTTGCCTCTGGAAAGAACAACTGGCAGGACTGTTGTTTTCATTGTAAGACTTTTGGAGCCATTTAATTGTACTTAACCATTTTCATCTATTTCTTTA
R
TAAGAACAATTCCATCTTAATAAAGAGTTACACTTGTTAATAA
Celera SNP ID:            hCV7442499
SNP Position Transcript:  3859
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3007):
GCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCT
R
GTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACCGGCTTGAGCCACCACACCCGGCACATCTTCATTCTTTT
Celera SNP ID:            hCV27468422
SNP Position Transcript:  2124
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3008):
GGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAG
R
GGGGAAAGCTGGAGTATTGATCCCGCCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCA
Celera SNP ID:            hCV27273225
SNP Position Transcript:  1724
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3009):
CGCTTGCCTCGCAGGGGCTGAGCTGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCC
Y
GGCGAGGAGCGCGAACCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCT
Celera SNP ID:            hCV7602251
SNP Position Transcript:  278
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:794, 8, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:3010):
TTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTGAAAGCAGTGTATTTGCTAGGTCATACCAGAAATCATCAATTGAGGTA
Y
GGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAG
Celera SNP ID:            hCV27273226
SNP Position Transcript:  1623
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3011):
ACCTCCGCCTTCCCAGATTCAAGCGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGT
R
TTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATTA
Celera SNP ID:            hCV27466457
SNP Position Transcript:  2084
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3012):
TATGGTAACTACTCTGGGACAATATGGGAGGAAAAGTGAAGATTGTGATGGTGTAAGAGCTAAATCCTCATCTGTCATATCCAGAAATCACTATATAATA
Y
ATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAAAGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAGGGATGGGGCAGG
Celera SNP ID:            hCV3103204
SNP Position Transcript:  3511
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,4)   total(C,4|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Context             (SEQ ID NO:3013):
GGCTGAGCTGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCCCGGCGAGGAGCGCGA
R
CCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAATAGGGACG
Celera SNP ID:            hCV15800898
SNP Position Transcript:  293
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:794, 13, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3014):
CCGGCTAATTTTTGTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTC
R
GCCTCCCAAAGTGCTGGGATTACCGGCTTGAGCCACCACACCCGGCACATCTTCATTCTTTTTATGTAGTAAAAAGTATAAGGCCACACATGGTTTATTT
Celera SNP ID:            hCV27466458
SNP Position Transcript:  2162
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:794, None   



Gene Number:                 46
Celera Gene:                 hCG1759545 - 145000147253816
Celera Transcript:           hCT2308850 - 145000147253827
Public Transcript Accession: NM_000791
Celera Protein:              hCP1807540 - 197000064940181
Public Protein Accession:    NP_000782
Gene Symbol:                 DHFR
Protein Name:                dihydrofolate reductase
Celera Genomic Axis:         GA_x5YUV32W40L(9225189..9254717)
Chromosome:                  Chr5
OMIM number:                 126060
OMIM Information:            DIHYDROFOLATE REDUCTASE;DHFR


Transcript Sequence (SEQ ID NO:98):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTAYGTGCGGCGGCAGCTGGGGCGGGAAGGCGGSCGCTGSGGSCGCTGCRGCCGCTGCAGCGCCAGGG
TCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAAACCGCTTGCCTCGCAGGGGCTGAGC
TGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCCYGGCGAGGAGCGCGARCCCGCGG
CCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAATRGGGACGAGGGGGC
GGGGCGGCCACAATTTCGCGCCAAACTTGACCGCGCGTTCTGCTGTAACGAGCGGGCTCGGAGGTCCTCCCGCTGCTGTCATGGTTGGTTCGCTAAACTG
CATCGTCGCTGTGTCCCAGAACATGGGCATCGGCAAGAACGGGGACCTGCCCTGGCCACCGCTCAGGAATGAATTCAGATATTTCCAGAGAATGACCACA
ACCTCTTCAGTAGAAGGTAAACAGAATCTGGTGATTATGGGTAAGAAGACCTGGTTCTCCATTCCTGAGAAGAATCGACCTTTAAAGGGTAGAATTAATT
TAGTTCTCAGCAGAGAACTCAAGGAACCTCCACAAGGAGCTCATTTTCTTTCCAGAAGTCTAGATGATGCCTTAAAACTTACTGAACAACCAGAATTAGC
AAATAAAGTAGACATGGTCTGGATAGTTGGTGGCAGTTCTGTTTATAAGGAAGCCATGAATCACCCAGGCCATCTTAAACTATTTGTGACAAGGATCATG
CAAGACTTTGAAAGTGACACGTTTTTTCCAGAAATTGATTTGGAGAAATATAAACTTCTGCCAGAATACCCAGGTGTTCTCTCTGATGTCCAGGAGGAGA
AAGGCATTAAGTACAAATTTGAAGTATATGAGAAGAATGATTAATATGAAGGTGTTTTCTAGTTTAAGTTGTTCCCCCTCCCTCTGAAAAAAGTATGTAT
TTTTACATTAGAAAAGGTTTTTTGTTGACTTTAGATCTATAATTATTTCTAAGCAACTWGTTTTTATTCCCCACTACTCTTGTCTCTATCAGATACCATT
TATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCACCTGCTAYAGTGAGCTGCCATTCCACACCCATCACATGTGG
CACTCTTGCCAGTCCTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGATCCACATACCCTTCAACTGAGCAGTTTCACTAGT
GGAAATACCAAAAGMTTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTGRAAAATTGAAAACAACCTGGAAGTCC
AGTGATGGGAAAATGAGTATGTTTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTGAAAGCAGTGTATTTGCTAGGTCATA
CCAGAAATCATCAATTGAGGTAYGGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATAC
TGCTGAGATACAGGGAAATGGAGRGGGGAAAGCTGGAGTATTGATCCCRCCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGT
CCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGGCATGCACGGGAACAGTGAATGCCAAASACTTAAAGCAATTCGATGTTTAAG
TATGTAAGTTCTTTTTTTTTTAGACAGCGTTTCGCTCTTGTTGCCCAGGCTAGCATGCAATGGTGTGACCTCGGCTTACTGCAACCTCCGCCTTCCCAGA
TTCAAGCGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTRTTTTTAGTAGAGATGG
GGTTTCRCCATGTTGGTCAGGCTRGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCAGGCAGATCAC
TTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCTCTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTASTCAGG
AAGCTGAGATKGAAGAATTAATTGAGCCCACGAGTTCAAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGT
CTCGAAAAGGAATCTGAAAACAATGGAACCATGCCTTCATAATTCTRGAAAGTTATTTTCAACTGATAAATCTATATTCACCCAAATAATCAAGGGTGAA
GGTAAAATAATACATTTTTAGACAAGCAAAGACTCAGGGGTTACCTCCATGTGCCCTTTTTAGGGAAGCTGTTGGAGAAAATACTCCAGCAAAATGAAGG
AGTACACAAACCAGAGAATGACATGAATCCAGCAAATAGGATCCAACACAGGCAATATTCCAGCTATGGAGCTAGCTTTAAAAAGGAACAGTAAAAATAT
TAATCGGTTAGCTGGGTGGAATGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTCAGCAGCAGGRCGACTTGAGCCCAAGAGTTCCAGACCAGCCTG
GCCAYCTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAAKAAGTTCATTGAAGATAAAGCAAAAGTAAAAAAA
AAAAAAAAAAAACAAGGGGAAAGGGTTGGTTAGGCAATCATTCTAGGGCAGAAAGAAGTACAGGATAGGAAGAGCATAATACACTGTTTTTCTCGGTGTA
AGAGCTAAATCCTCATCTGTCATATCCAGAAATCACTATATAATAYATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAA
AGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAGKGATGGGG

Protein Sequence    (SEQ ID NO:795):
MAARRQGPARSANPRPQFPGVCGREHAATLRAPGRGGGASPAQIGTRGRGGHNFAPNLTARSAVTSGLGGPPAAVMVGSLNCIVAVSQNMGIGKNGDLPW
PPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFSIPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSSVYKEA
MNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEYPGVLSDVQEEKGIKYKFEVYEKND


SNP Information

Context             (SEQ ID NO:3015):
ACTATATAATATATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAAAGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAG
K
GATGGGG
Celera SNP ID:            hCV11649909
SNP Position Transcript:  3135
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,6)      total(G,6|T,2) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3016):
GATCACTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCTCTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTA
S
TCAGGAAGCTGAGATGGAAGAATTAATTGAGCCCACGAGTTCAAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGAC
Celera SNP ID:            hCV3103206
SNP Position Transcript:  2295
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,3)      total(G,1|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3017):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTA
Y
GTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTG
Celera SNP ID:            hCV27863089
SNP Position Transcript:  36
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3018):
CCCTTCAACTGAGCAGTTTCACTAGTGGAAATACCAAAAGCTTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTG
R
AAAATTGAAAACAACCTGGAAGTCCAGTGATGGGAAAATGAGTATGTTTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTG
Celera SNP ID:            hCV3020731
SNP Position Transcript:  1475
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,7)   total(G,3|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3019):
CTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGATCCACATACCCTTCAACTGAGCAGTTTCACTAGTGGAAATACCAAAAG
M
TTCCTACGTGTATATCCAGAGGTTTGTAGATAAATGTTGCCACCTTGTTTGTAACAGTGAAAAATTGAAAACAACCTGGAAGTCCAGTGATGGGAAAATG
Celera SNP ID:            hCV3020732
SNP Position Transcript:  1415
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|C,6)   total(A,3|C,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3020):
TTCCCCACTACTCTTGTCTCTATCAGATACCATTTATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCACCTGCTA
Y
AGTGAGCTGCCATTCCACACCCATCACATGTGGCACTCTTGCCAGTCCTTGACATTGTCGGGCTTTTCACATGTTGGTAATATTTATTAAAGATGAAGAT
Celera SNP ID:            hCV3020733
SNP Position Transcript:  1267
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3021):
GTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGTCTCGAAAAGGAATCTGAAAACAATGGAACCATGCCTTCATAATTCT
R
GAAAGTTATTTTCAACTGATAAATCTATATTCACCCAAATAATCAAGGGTGAAGGTAAAATAATACATTTTTAGACAAGCAAAGACTCAGGGGTTACCTC
Celera SNP ID:            hCV7491665
SNP Position Transcript:  2447
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,3)      total(G,3|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3022):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGG
S
CGCTGGGGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAAT
Celera SNP ID:            hCV16231132
SNP Position Transcript:  66
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3023):
CTAGTTTAAGTTGTTCCCCCTCCCTCTGAAAAAAGTATGTATTTTTACATTAGAAAAGGTTTTTTGTTGACTTTAGATCTATAATTATTTCTAAGCAACT
W
GTTTTTATTCCCCACTACTCTTGTCTCTATCAGATACCATTTATGAGACATTCTTGCTATAACTAAGTGCTTCTCCAAGACCCCAACTGAGTCCCCAGCA
Celera SNP ID:            hCV3020734
SNP Position Transcript:  1159
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(T,-|A,-)   ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3024):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGG
S
CGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAA
Celera SNP ID:            hCV16231133
SNP Position Transcript:  75
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3025):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTGGGGGCGCTGC
R
GCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTCAAAACCGCTT
Celera SNP ID:            hCV16231134
SNP Position Transcript:  82
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3026):
GCGCGAACCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAAT
R
GGGACGAGGGGGCGGGGCGGCCACAATTTCGCGCCAAACTTGACCGCGCGTTCTGCTGTAACGAGCGGGCTCGGAGGTCCTCCCGCTGCTGTCATGGTTG
Celera SNP ID:            hCV26764036
SNP Position Transcript:  387
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:795, 44, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:3027):
CGATGGCCCTGCCCAGTCCCAGACAGAACCTACTACGTGCGGCGGCAGCTGGGGCGGGAAGGCGGGCGCTG
S
GGGCGCTGCGGCCGCTGCAGCGCCAGGGTCCACCTGGTCGGCTGCACCTGTGGAGGAGGAGGTGGATTTCAGGCTTCCCGTAGACTGGAAGAATCGGCTC
Celera SNP ID:            hCV26764037
SNP Position Transcript:  72
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3028):
AAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAGGGGGGAAAGCTGGAGTATTGATCCC
R
CCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGG
Celera SNP ID:            hCV7442492
SNP Position Transcript:  1749
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3029):
CGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTATTTTTAGTAGAGATGGGGTTTC
R
CCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGAC
Celera SNP ID:            hCV27465533
SNP Position Transcript:  2107
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3030):
GTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCAGGTGTTTGCAGTAAGAAGCTGCTGGCATGCACGGGAACAGTGAATGCCAAA
S
ACTTAAAGCAATTCGATGTTTAAGTATGTAAGTTCTTTTTTTTTTAGACAGCGTTTCGCTCTTGTTGCCCAGGCTAGCATGCAATGGTGTGACCTCGGCT
Celera SNP ID:            hCV7442493
SNP Position Transcript:  1876
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3031):
GGAGCTAGCTTTAAAAAGGAACAGTAAAAATATTAATCGGTTAGCTGGGTGGAATGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTCAGCAGCAGG
R
CGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCACCTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAAGA
Celera SNP ID:            hCV11434548
SNP Position Transcript:  2768
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3032):
GACGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCACCTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAA
K
AAGTTCATTGAAGATAAAGCAAAAGTAAAAAAAAAAAAAAAAAAACAAGGGGAAAGGGTTGGTTAGGCAATCATTCTAGGGCAGAAAGAAGTACAGGATA
Celera SNP ID:            hCV27273222
SNP Position Transcript:  2867
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|G,3)   total(G,3|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3033):
CGGTTAGCTGGGTGGAATGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTCAGCAGCAGGACGACTTGAGCCCAAGAGTTCCAGACCAGCCTGGCCA
Y
CTTAGTGAGATCCCTTCTCTTAAAAATAATAACTTATTGCCAGATTTGGGGCATTTGGAAAGAAGTTCATTGAAGATAAAGCAAAAGTAAAAAAAAAAAA
Celera SNP ID:            hCV27273223
SNP Position Transcript:  2805
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3034):
CTTGGGCAACATGGCAAAGCCCCATCTCTACAAAAAACACAAAAATTAGCTGGGCATTGTGGCGCACACCTGTATTCCCATCTACTCAGGAAGCTGAGAT
K
GAAGAATTAATTGAGCCCACGAGTTCAAGGCTGCAGTGAGTCGTGATTGTGCCACTGCACTCCAGCCGGGGTGACAGAAGAGACCTTGTCTCGAAAAGGA
Celera SNP ID:            hCV27273224
SNP Position Transcript:  2311
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3035):
GCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCT
R
GTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGACCAGCTTGGGCAACATGG
Celera SNP ID:            hCV27468422
SNP Position Transcript:  2124
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3036):
GGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAG
R
GGGGAAAGCTGGAGTATTGATCCCGCCCCCCTCCTTGGTTGTCAGCTCCCTGTCCTGTGTGTGGGCGGAACATAGTCCAGCTGCTCTATAGCAAGTCTCA
Celera SNP ID:            hCV27273225
SNP Position Transcript:  1724
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3037):
CGCTTGCCTCGCAGGGGCTGAGCTGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCC
Y
GGCGAGGAGCGCGAACCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCT
Celera SNP ID:            hCV7602251
SNP Position Transcript:  278
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:795, 8, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:3038):
TTCTGTCTTAGATTGGGGAACCCAAAGCAGATTGCAAGACTGAAATTTCAGTGAAAGCAGTGTATTTGCTAGGTCATACCAGAAATCATCAATTGAGGTA
Y
GGAGAAACTGAACTGAGAAGGTAAGAAAAGCAATTTAAAGTCAGCGAGCAGGTTCTCATTGATAACAAGCTCCATACTGCTGAGATACAGGGAAATGGAG
Celera SNP ID:            hCV27273226
SNP Position Transcript:  1623
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3039):
ACCTCCGCCTTCCCAGATTCAAGCGATTCTCCTGCCTCAGGCTCCCAAGTAGCTAGGACCAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTGT
R
TTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCGTGACCGCAAGCGATTCACCCACCTGTAATCCCAGCGCTTTGGGAGGCT
Celera SNP ID:            hCV27466457
SNP Position Transcript:  2084
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Context             (SEQ ID NO:3040):
GGCTGAGCTGGAGGCAGCGAGGCCGCCCGACGCAGGCTTCCGGCGAGACATGGCAGGGCAAGGATGGCAGCCCGGCGGCAGGGCCCGGCGAGGAGCGCGA
R
CCCGCGGCCGCAGTTCCCAGGCGTCTGCGGGCGCGAGCACGCCGCGACCCTGCGTGCGCCGGGGCGGGGGGGCGGGGCCTCGCCTGCACAAATAGGGACG
Celera SNP ID:            hCV15800898
SNP Position Transcript:  293
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:795, 13, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3041):
GGGCAGAAAGAAGTACAGGATAGGAAGAGCATAATACACTGTTTTTCTCGGTGTAAGAGCTAAATCCTCATCTGTCATATCCAGAAATCACTATATAATA
Y
ATAATAATGAAATGACTAAGTTATGTGAGGAAAAAAACAGAAGACATTGCTAAAAGAGTTAAAAGTCATTGCTCTGGAGAATTAGGAGGGATGGGG
Celera SNP ID:            hCV3103204
SNP Position Transcript:  3046
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,4)   total(C,4|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:795, None   



Gene Number:                 47
Celera Gene:                 hCG1772922 - 107000109464830
Celera Transcript:           hCT1811512 - 107000109464831
Public Transcript Accession: NM_021632
Celera Protein:              hCP1733133 - 197000069407806
Public Protein Accession:    NP_067645
Gene Symbol:                 ZNF350
Protein Name:                zinc-finger protein ZBRK1;ZBRK1;ZFQR
Celera Genomic Axis:         GA_x5YUV32VY4T(1824231..1846919)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:99):
AGTTTACGGAAGTGTAACGTTGAGGCCCTTCTTGTGTATCTGGAGAAAATAGAGGTTCTGACTCCTCAGGAGCAAAAAACATAACCTGAAGAGGGAGGAA
GTGGATTTGGGGTTCACCATTTCTTGGGGCACACTTGATTGAAAACTGAGACTTCTGAAGAGAAGGCCAGAAGATACAAAGACAGACCATCCCAGTTGAA
TGCTGTCTTCCAAGAACAGAAGAAAATGATCCAGGCCCAGGAATCCATAACACTGGAGGATGTGGCTGTGGACTTCACTTGGGAGGAGTGGCAACTCCTG
GGCGCTGCTCAGAAGGACCTGTACCGGGAYGTGATGTTGGAGAACTACAGCAACCTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCA
AGTTGGAACAAGGAGAACAACYGTGGACAATTGAAGATGGAATCCACAGTGGAGCCTGTTCAGACATATGGAAAGTTGATCATGTGCTGGAGCGCTTGCA
GAGTGAAAGCCTGGTGAACAGAAGGAAACCATGTCATGAACATGATGCATTTGAAAATATTGTTCATTGCAGCAAAAGTCAGTTTCTGTTAGGGCAAAAT
CATGATATATTTGACTTAYGTGGAAAAAGTTTGAAATCCAATTTAACTTTAGTTAACCAGAGCAAAGGCTATGAAATAAAGAACTCTGTTGAGTTTACTG
GAAATGGGGACTCCTTTCTTCATGCTAACCATGAACGACTTCATACTGCAATTAAATTCCCTGCAAGTCAAAAACTCATCAGCACTAAGTCCCAATTCAT
CAGTCCCAAGCATCAGAAAACACGAAAATTAGAGAAGCATCATGTGTGCAGTGAATGTGGGAAAGCCTTCATCAAGAAGTCTTGGCTAACTGATCACCAG
GTAATGCATACAGGAGAGAAACCCCACAGATGYAGTCTATGTGAGAAAGCCTTCTCCAGAAAGTTCATGCTTACTGAACATCAGCGAACTCATACAGGAG
AAAAACCTTATGAATGCCCTGAATGTGGCAAAGCCTTTCTCAAGAAATCACGGCTCAACATACATCAGAAAACACATACCGGAGAGAAACCCTATATATG
CAGTGAATGTGGAAAAGGCTTCATCCAGAAAGGAAATCTCATTGTACACCAGCGAATTCATACAGGTGAGAAACCTTATATATGCAATGAATGTGGAAAA
GGCTTCATTCAGAAGACGTGTCTCATAGCACATCAGAGATTTCACACAGGAAAGACGCCCTTTGTGTGCAGTGAATGTGGAAAATCCTGTTCTCAGAAAT
CAGGTCTCATTAAACATCAAAGAATTCACACAGGAGAGAAACCMTTTGAATGTAGTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCA
TCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAACRAGTGTGGGAAAGCGTTTGCGTATATGTCGTGTCTGGTTAAGCATAAGAGAATACACACA
AGGGAGAAACAAGAGGCAGCCAAGGTGGAAAATCCTCCTGCAGAGAGGCACAGCTCATTACACACCAGTGATGTCATGCAGGAGAAAAACTCTGCTAACG
GGGCGACTACACAAGTGCCTTCTGTGGCCCCTCAGACATCATTAAACATCAGYGGCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGT
CAGATGTGCAGCCTCAGGAGATAACAGWGGATTTGCACAGGACAGAAACCTTGTGAATGCAGTGAATGTGGTTGTGCCTTCCGTGATCAATTATGTCTTA
TTTTATGTTACAGAAAACCCATAGGAAGAAAACTCAGATCTATGTGGAAAAGGGTTGAGCAAAAATTTGTAGTTCATTATGTGGCCGAAAAGCATAYACT
GAGAGAACATGTATAAGGCTGAGATAGCCTGATAAACTCATCCTATTAAAATGTATGCTGTGATACACAGGCAAATTTGATGTTAACCTAAGCACATACA
CAGCAATTGCTCGACTGTGTCAATTAAATGAGTAAAGGAAGCCCAAGTACTTTTAAGTGGAGGAAATGAAGTACTGTGAATTTTTAAAACAGATGAGATA
ATTGGTGTYGGGAGTGTTGCAGTGACTGAAAAGCTTCATAAGGGGCAGTTGGTGGGAAAGGGCTAATACTGTAATGGTGGAATGTGGGACACATATGTGT
CAATTCAGTTTCCTTAGACCAGTGCCAGTGTGGAGGATTAATTGAAAACCAGGACCATAAACTTTCAGAACTTTGTATTATGCAGAGGGATCTGTGAAAC
TAGTCAATTTGTTTCATTAAACAAATATTTTAAAATTATTTCCTTTGTACCTTGTCCTGTTCCAGGAGCTGAGGTCAAAGAAGAAAAAGTTTGTGGTCTC
CTGGAGAGTTTGTGGGGTTAATTTTAAGTGGTATCATTACACTCAGGCAATCTAGTCAGGCGGTGCAAATATCTACATTAGGTGAAATGGACATGGAGTA
ACTGTGTCCAGGGGACGCGATAATTTATTGTTCAAGGAGTAG

Protein Sequence    (SEQ ID NO:796):
MIQAQESITLEDVAVDFTWEEWQLLGAAQKDLYRDVMLENYSNLVAVGYQASKPDALFKLEQGEQLWTIEDGIHSGACSDIWKVDHVLERLQSESLVNRR
KPCHEHDAFENIVHCSKSQFLLGQNHDIFDLRGKSLKSNLTLVNQSKGYEIKNSVEFTGNGDSFLHANHERLHTAIKFPASQKLISTKSQFISPKHQKTR
KLEKHHVCSECGKAFIKKSWLTDHQVMHTGEKPHRCSLCEKAFSRKFMLTEHQRTHTGEKPYECPECGKAFLKKSRLNIHQKTHTGEKPYICSECGKGFI
QKGNLIVHQRIHTGEKPYICNECGKGFIQKTCLIAHQRFHTGKTPFVCSECGKSCSQKSGLIKHQRIHTGEKPFECSECGKAFSTKQKLIVHQRTHTGER
PYGCNECGKAFAYMSCLVKHKRIHTREKQEAAKVENPPAERHSSLHTSDVMQEKNSANGATTQVPSVAPQTSLNISGLLANRNVVLVGQPVVRCAASGDN
RGFAQDRNLVNAVNVVVPSVINYVLFYVTENP


SNP Information

Context             (SEQ ID NO:3042):
TCCAGGCCCAGGAATCCATAACACTGGAGGATGTGGCTGTGGACTTCACTTGGGAGGAGTGGCAACTCCTGGGCGCTGCTCAGAAGGACCTGTACCGGGA
Y
GTGATGTTGGAGAACTACAGCAACCTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCAAGTTGGAACAAGGAGAACAACTGTGGACAA
Celera SNP ID:            hCV22273749
SNP Position Transcript:  330
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,13)   caucasian(C,14|T,26)   total(C,39|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 35, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3043):
TACCGGGATGTGATGTTGGAGAACTACAGCAACCTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCAAGTTGGAACAAGGAGAACAAC
Y
GTGGACAATTGAAGATGGAATCCACAGTGGAGCCTGTTCAGACATATGGAAAGTTGATCATGTGCTGGAGCGCTTGCAGAGTGAAAGCCTGGTGAACAGA
Celera SNP ID:            hCV22273338
SNP Position Transcript:  422
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,19)   caucasian(C,10|T,30)   total(C,29|T,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 66, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 66, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:3044):
ACACAGGAAAGACGCCCTTTGTGTGCAGTGAATGTGGAAAATCCTGTTCTCAGAAATCAGGTCTCATTAAACATCAAAGAATTCACACAGGAGAGAAACC
M
TTTGAATGTAGTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCATCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAACGAGT
Celera SNP ID:            hCV1597651
SNP Position Transcript:  1344
SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,30)   caucasian(A,8|C,32)   total(A,16|C,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 373, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 373, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3045):
CCCCTCAGACATCATTAAACATCAGCGGCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGTCAGATGTGCAGCCTCAGGAGATAACAG
W
GGATTTGCACAGGACAGAAACCTTGTGAATGCAGTGAATGTGGTTGTGCCTTCCGTGATCAATTATGTCTTATTTTATGTTACAGAAAACCCATAGGAAG
Celera SNP ID:            hCV22274416
SNP Position Transcript:  1728
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,7)   caucasian(A,28|T,8)   total(A,59|T,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 501, (R,AGA)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|T,7)   caucasian(A,31|T,7)   total(A,60|T,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 501, (R,AGA)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 501, (R,AGA)   (S,AGT)      



Context             (SEQ ID NO:3046):
GCTCGACTGTGTCAATTAAATGAGTAAAGGAAGCCCAAGTACTTTTAAGTGGAGGAAATGAAGTACTGTGAATTTTTAAAACAGATGAGATAATTGGTGT
Y
GGGAGTGTTGCAGTGACTGAAAAGCTTCATAAGGGGCAGTTGGTGGGAAAGGGCTAATACTGTAATGGTGGAATGTGGGACACATATGTGTCAATTCAGT
Celera SNP ID:            hCV15965460
SNP Position Transcript:  2109
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:796, None   



Context             (SEQ ID NO:3047):
ACCCTTTGAATGTAGTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCATCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAAC
R
AGTGTGGGAAAGCGTTTGCGTATATGTCGTGTCTGGTTAAGCATAAGAGAATACACACAAGGGAGAAACAAGAGGCAGCCAAGGTGGAAAATCCTCCTGC
Celera SNP ID:            hCV27513246
SNP Position Transcript:  1441
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 406, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:3048):
GCTCATTACACACCAGTGATGTCATGCAGGAGAAAAACTCTGCTAACGGGGCGACTACACAAGTGCCTTCTGTGGCCCCTCAGACATCATTAAACATCAG
Y
GGCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGTCAGATGTGCAGCCTCAGGAGATAACAGAGGATTTGCACAGGACAGAAACCTTG
Celera SNP ID:            hCV25649263
SNP Position Transcript:  1653
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,39|T,1)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 476, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,37|T,1)   total(C,74|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 476, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:3049):
CTTATTTTATGTTACAGAAAACCCATAGGAAGAAAACTCAGATCTATGTGGAAAAGGGTTGAGCAAAAATTTGTAGTTCATTATGTGGCCGAAAAGCATA
Y
ACTGAGAGAACATGTATAAGGCTGAGATAGCCTGATAAACTCATCCTATTAAAATGTATGCTGTGATACACAGGCAAATTTGATGTTAACCTAAGCACAT
Celera SNP ID:            hCV25649264
SNP Position Transcript:  1897
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,33|T,3)   total(C,69|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:796, None



Context             (SEQ ID NO:3050):
AGAAGCATCATGTGTGCAGTGAATGTGGGAAAGCCTTCATCAAGAAGTCTTGGCTAACTGATCACCAGGTAATGCATACAGGAGAGAAACCCCACAGATG
Y
AGTCTATGTGAGAAAGCCTTCTCCAGAAAGTTCATGCTTACTGAACATCAGCGAACTCATACAGGAGAAAAACCTTATGAATGCCCTGAATGTGGCAAAG
Celera SNP ID:            hCV7806937
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,9|T,31)   total(C,25|T,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 236, (C,TGC)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,9|T,31)   total(C,25|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 236, (C,TGC)   (C,TGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,5)   total(C,2|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:796, 236, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:3051):
CAGAAGGAAACCATGTCATGAACATGATGCATTTGAAAATATTGTTCATTGCAGCAAAAGTCAGTTTCTGTTAGGGCAAAATCATGATATATTTGACTTA
Y
GTGGAAAAAGTTTGAAATCCAATTTAACTTTAGTTAACCAGAGCAAAGGCTATGAAATAAAGAACTCTGTTGAGTTTACTGGAAATGGGGACTCCTTTCT
Celera SNP ID:            hCV25649265
SNP Position Transcript:  619
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 132, (R,CGT)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:796, 132, (R,CGT)   (C,TGT)   



Gene Number:                 47
Celera Gene:                 hCG1772922 - 107000109464830
Celera Transcript:           hCT2296352 - 107000109464840
Public Transcript Accession: NM_021632
Celera Protein:              hCP1874543 - 197000069407807
Public Protein Accession:    NP_067645
Gene Symbol:                 ZNF350
Protein Name:                zinc-finger protein ZBRK1;ZBRK1;ZFQR
Celera Genomic Axis:         GA_x5YUV32VY4T(1824231..1834627)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:100):
GTTCTGACTCCTCAGGAGCAAAAAACATAACCTGAAGAGGGAGGAAGTGGATTTGGGGTTCACCATTTCTTGGGGCACACTTGATTGAAAACTGAGACTT
CTGAAGAGAAGGCCAGAAGATACAAAGACAGACCATCCCAGTTGAATGCTGTCTTCCAAGAACAGAAGAAAATGATCCAGGCCCAGGAATCCATAACACT
GGAGGATGTGGCTGTGGACTTCACTTGGGAGGAGTGGCAACTCCTGGGCGCTGCTCAGAAGGACCTGTACCGGGAYGTGATGTTGGAGAACTACAGCAAC
CTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCAAGTTGGAACAAGGAGAACAACYGTGGACAATTGAAGATGGAATCCACAGTGGAG
CCTGTTCAGACATATGGAAAGTTGATCATGTGCTGGAGCGCTTGCAGAGTGAAAGCCTGGTGAACAGAAGGAAACCATGTCATGAACATGATGCATTTGA
AAATATTGTTCATTGCAGCAAAAGTCAGTTTCTGTTAGGGCAAAATCATGATATATTTGACTTAYGTGGAAAAAGTTTGAAATCCAATTTAACTTTAGTT
AACCAGAGCAAAGGCTATGAAATAAAGAACTCTGTTGAGTTTACTGGAAATGGGGACTCCTTTCTTCATGCTAACCATGAACGACTTCATACTGCAATTA
AATTCCCTGCAAGTCAAAAACTCATCAGCACTAAGTCCCAATTCATCAGTCCCAAGCATCAGAAAACACGAAAATTAGAGAAGCATCATGTGTGCAGTGA
ATGTGGGAAAGCCTTCATCAAGAAGTCTTGGCTAACTGATCACCAGGTAATGCATACAGGAGAGAAACCCCACAGATGYAGTCTATGTGAGAAAGCCTTC
TCCAGAAAGTTCATGCTTACTGAACATCAGCGAACTCATACAGGAGAAAAACCTTATGAATGCCCTGAATGTGGCAAAGCCTTTCTCAAGAAATCACGGC
TCAACATACATCAGAAAACACATACCGGAGAGAAACCCTATATATGCAGTGAATGTGGAAAAGGCTTCATCCAGAAAGGAAATCTCATTGTACACCAGCG
AATTCATACAGGTGAGAAACCTTATATATGCAATGAATGTGGAAAAGGCTTCATTCAGAAGACGTGTCTCATAGCACATCAGAGATTTCACACAGGAAAG
ACGCCCTTTGTGTGCAGTGAATGTGGAAAATCCTGTTCTCAGAAATCAGGTCTCATTAAACATCAAAGAATTCACACAGGAGAGAAACCMTTTGAATGTA
GTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCATCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAACRAGTGTGGGAAAGC
GTTTGCGTATATGTCGTGTCTGGTTAAGCATAAGAGAATACACACAAGGGAGAAACAAGAGGCAGCCAAGGTGGAAAATCCTCCTGCAGAGAGGCACAGC
TCATTACACACCAGTGATGTCATGCAGGAGAAAAACTCTGCTAACGGGGCGACTACACAAGTGCCTTCTGTGGCCCCTCAGACATCATTAAACATCAGYG
GCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGTCAGATGTGCAGCCTCAGGAGATAACAGWGGATTTGCACAGGACAGAAACCTTGT
GAATGCAGTGAATGTGGTTGTGCCTTCCGTGATCAATTATGTCTTATTTTATGTTACAGAAAACCCATAGGAAGAAAACTCAGATCTATGTGGAAAAGGG
TTGAGCAAAAATTTGTAGTTCATTATGTGGCCGAAAAGCATAYACTGAGAGAACATGTATAAGGCTGAGATAGCCTGATAAACTCATCCTATTAAAATGT
ATGCTGTGATACACAGGCAAATTTGATGTTAACCTAAGCACATACACAGCAATTGCTCGACTGTGTCAATTAAATGAGTAAAGGAAGCCCAAGTACTTTT
AAGTGGAGGAAATGAAGTACTGTGAATTTTTAAAACAGATGAGATAATTGGTGTYGGGAGTGTTGCAGTGACTGAAAAGCTTCATAAGGGGCAGTTGGTG
GGAAAGGGCTAATACTGTAATGGTGGAATGTGGGACACATATGTGTCAATTCAGTTTCCTTAGACCAGTGCCAGTGTGGAGGATTAATTGAAAACCAGGA
CCATAAACTTTCAGAACTTTGTATTATGCAGAGGGATCTGTGAAACTAGTCAATTTGTTTCATTAAACAAATATTTTAAAATTATTTCCTTTGTACCTTG
TCCTGTTCCAGGAGCTGAGGTCAAAGAAGAAAAAGTTTGTGGTCTCCTGGAGAGTTTGTGGGGTTAATTTTAAGTGGTATCATTACACTCAGGCAATCTA
GTCAGGCGGTGCAAATATCTACATTAGGTGAAATGGACATGGAGTAACTGTGTCCAGGGGACGCGATAATTTATTGTTCAAGGAGTAG

Protein Sequence    (SEQ ID NO:797):
MIQAQESITLEDVAVDFTWEEWQLLGAAQKDLYRDVMLENYSNLVAVGYQASKPDALFKLEQGEQLWTIEDGIHSGACSDIWKVDHVLERLQSESLVNRR
KPCHEHDAFENIVHCSKSQFLLGQNHDIFDLRGKSLKSNLTLVNQSKGYEIKNSVEFTGNGDSFLHANHERLHTAIKFPASQKLISTKSQFISPKHQKTR
KLEKHHVCSECGKAFIKKSWLTDHQVMHTGEKPHRCSLCEKAFSRKFMLTEHQRTHTGEKPYECPECGKAFLKKSRLNIHQKTHTGEKPYICSECGKGFI
QKGNLIVHQRIHTGEKPYICNECGKGFIQKTCLIAHQRFHTGKTPFVCSECGKSCSQKSGLIKHQRIHTGEKPFECSECGKAFSTKQKLIVHQRTHTGER
PYGCNECGKAFAYMSCLVKHKRIHTREKQEAAKVENPPAERHSSLHTSDVMQEKNSANGATTQVPSVAPQTSLNISGLLANRNVVLVGQPVVRCAASGDN
RGFAQDRNLVNAVNVVVPSVINYVLFYVTENP


SNP Information

Context             (SEQ ID NO:3052):
TCCAGGCCCAGGAATCCATAACACTGGAGGATGTGGCTGTGGACTTCACTTGGGAGGAGTGGCAACTCCTGGGCGCTGCTCAGAAGGACCTGTACCGGGA
Y
GTGATGTTGGAGAACTACAGCAACCTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCAAGTTGGAACAAGGAGAACAACTGTGGACAA
Celera SNP ID:            hCV22273749
SNP Position Transcript:  276
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,13)   caucasian(C,14|T,26)   total(C,39|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 35, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3053):
TACCGGGATGTGATGTTGGAGAACTACAGCAACCTGGTGGCAGTGGGGTATCAAGCCAGCAAACCGGATGCACTCTTCAAGTTGGAACAAGGAGAACAAC
Y
GTGGACAATTGAAGATGGAATCCACAGTGGAGCCTGTTCAGACATATGGAAAGTTGATCATGTGCTGGAGCGCTTGCAGAGTGAAAGCCTGGTGAACAGA
Celera SNP ID:            hCV22273338
SNP Position Transcript:  368
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,19)   caucasian(C,10|T,30)   total(C,29|T,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 66, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 66, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:3054):
ACACAGGAAAGACGCCCTTTGTGTGCAGTGAATGTGGAAAATCCTGTTCTCAGAAATCAGGTCTCATTAAACATCAAAGAATTCACACAGGAGAGAAACC
M
TTTGAATGTAGTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCATCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAACGAGT
Celera SNP ID:            hCV1597651
SNP Position Transcript:  1290
SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,30)   caucasian(A,8|C,32)   total(A,16|C,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 373, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 373, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3055):
CCCCTCAGACATCATTAAACATCAGCGGCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGTCAGATGTGCAGCCTCAGGAGATAACAG
W
GGATTTGCACAGGACAGAAACCTTGTGAATGCAGTGAATGTGGTTGTGCCTTCCGTGATCAATTATGTCTTATTTTATGTTACAGAAAACCCATAGGAAG
Celera SNP ID:            hCV22274416
SNP Position Transcript:  1674
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,7)   caucasian(A,28|T,8)   total(A,59|T,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 501, (R,AGA)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|T,7)   caucasian(A,31|T,7)   total(A,60|T,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 501, (R,AGA)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 501, (R,AGA)   (S,AGT)      



Context             (SEQ ID NO:3056):
GCTCGACTGTGTCAATTAAATGAGTAAAGGAAGCCCAAGTACTTTTAAGTGGAGGAAATGAAGTACTGTGAATTTTTAAAACAGATGAGATAATTGGTGT
Y
GGGAGTGTTGCAGTGACTGAAAAGCTTCATAAGGGGCAGTTGGTGGGAAAGGGCTAATACTGTAATGGTGGAATGTGGGACACATATGTGTCAATTCAGT
Celera SNP ID:            hCV15965460
SNP Position Transcript:  2055
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:797, None   



Context             (SEQ ID NO:3057):
ACCCTTTGAATGTAGTGAATGTGGGAAAGCCTTTAGCACAAAGCAAAAGCTCATTGTCCATCAAAGGACTCATACAGGAGAGAGACCCTATGGCTGTAAC
R
AGTGTGGGAAAGCGTTTGCGTATATGTCGTGTCTGGTTAAGCATAAGAGAATACACACAAGGGAGAAACAAGAGGCAGCCAAGGTGGAAAATCCTCCTGC
Celera SNP ID:            hCV27513246
SNP Position Transcript:  1387
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 406, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:3058):
GCTCATTACACACCAGTGATGTCATGCAGGAGAAAAACTCTGCTAACGGGGCGACTACACAAGTGCCTTCTGTGGCCCCTCAGACATCATTAAACATCAG
Y
GGCCTCCTCGCAAACAGGAACGTAGTCCTTGTGGGACAGCCAGTGGTCAGATGTGCAGCCTCAGGAGATAACAGAGGATTTGCACAGGACAGAAACCTTG
Celera SNP ID:            hCV25649263
SNP Position Transcript:  1599
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,39|T,1)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 476, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,37|T,1)   total(C,74|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 476, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:3059):
CTTATTTTATGTTACAGAAAACCCATAGGAAGAAAACTCAGATCTATGTGGAAAAGGGTTGAGCAAAAATTTGTAGTTCATTATGTGGCCGAAAAGCATA
Y
ACTGAGAGAACATGTATAAGGCTGAGATAGCCTGATAAACTCATCCTATTAAAATGTATGCTGTGATACACAGGCAAATTTGATGTTAACCTAAGCACAT
Celera SNP ID:            hCV25649264
SNP Position Transcript:  1843
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,33|T,3)   total(C,69|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:797, None



Context             (SEQ ID NO:3060):
AGAAGCATCATGTGTGCAGTGAATGTGGGAAAGCCTTCATCAAGAAGTCTTGGCTAACTGATCACCAGGTAATGCATACAGGAGAGAAACCCCACAGATG
Y
AGTCTATGTGAGAAAGCCTTCTCCAGAAAGTTCATGCTTACTGAACATCAGCGAACTCATACAGGAGAAAAACCTTATGAATGCCCTGAATGTGGCAAAG
Celera SNP ID:            hCV7806937
SNP Position Transcript:  879
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,9|T,31)   total(C,25|T,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 236, (C,TGC)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,9|T,31)   total(C,25|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 236, (C,TGC)   (C,TGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,5)   total(C,2|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:797, 236, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:3061):
CAGAAGGAAACCATGTCATGAACATGATGCATTTGAAAATATTGTTCATTGCAGCAAAAGTCAGTTTCTGTTAGGGCAAAATCATGATATATTTGACTTA
Y
GTGGAAAAAGTTTGAAATCCAATTTAACTTTAGTTAACCAGAGCAAAGGCTATGAAATAAAGAACTCTGTTGAGTTTACTGGAAATGGGGACTCCTTTCT
Celera SNP ID:            hCV25649265
SNP Position Transcript:  565
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 132, (R,CGT)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:797, 132, (R,CGT)   (C,TGT)   



Gene Number:                 48
Celera Gene:                 hCG1773950 - 62000133458251
Celera Transcript:           hCT1812574 - 62000133458252
Public Transcript Accession: NM_017558
Celera Protein:              hCP1730616 - 197000064921494
Public Protein Accession:    NP_060028
Gene Symbol:                 DKFZp434L0850
Protein Name:                hypothetical protein DKFZp434L0850;DKFZP434L0850;FLJ12871
Celera Genomic Axis:         GA_x5YUV32VU2L(3129031..3184098)
Chromosome:                  Chr16
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:101):
AAGCTGGGYATGGAGCCCCTCAGCGGCGGCGGGGTCTGTGAGTTGGWCGCGGGGTCTTGGCGGGGAATGGAGGTAGAATAAACGTGGGACCCGGAGTGCA
CCAAGGTGAGAAAAAAAAATTACTAAAAATGACAAGTAGAAGACTTGAGGAGTCCATGGGGGCTGTTCAGATGGGATTGGTCAATATGTTCAAAGGATTT
CAAAGCAAGGTTTTGCCACCCCTGAGTCCAAAGGTGGTTACAGAAGAAGAAGTAAACCGAATGCTTACACCCTCAGAGTTCCTGAAGGAAATGTCCCTGA
CCACCGAGCAGAGACTGGCAAAAACACGTTTGATGTGCCGACCACAGATCATCGAACTCTTAGATATGGGGGAAACAACACATCAGAAGTTTTCAGGAAT
TGACCTGGATCAGGCATTATTCCAGCCCTTTCCATCAGAAATTATATTTCAGAACTACACTCCCTGTGAAGTCTATGAAGTTCCACTGATTTTGAGGAAC
AATGACAAAATTCCAAGGTTGGTGAAAGTTGTGGAAGAAAGTTCGCCTTACTTTAAAGTAATCAGCCCCAAAGATATTGGCCACAAAGTGGCTCCTGGAG
TGCCTTCCATATTCCGAATCCTCTTTACTCCAGAGGAGAACAAGGTAATAC

Protein Sequence    (SEQ ID NO:798):
MTSRRLEESMGAVQMGLVNMFKGFQSKVLPPLSPKVVTEEEVNRMLTPSEFLKEMSLTTEQRLAKTRLMCRPQIIELLDMGETTHQKFSGIDLDQALFQP
FPSEIIFQNYTPCEVYEVPLILRNNDKIPRLVKVVEESSPYFKVISPKDIGHKVAPGVPSIFRILFTPEENKVIX


SNP Information

Context             (SEQ ID NO:3062):
AAGCTGGGTATGGAGCCCCTCAGCGGCGGCGGGGTCTGTGAGTTGG
W
CGCGGGGTCTTGGCGGGGAATGGAGGTAGAATAAACGTGGGACCCGGAGTGCACCAAGGTGAGAAAAAAAAATTACTAAAAATGACAAGTAGAAGACTTG
Celera SNP ID:            hCV3284382
SNP Position Transcript:  47
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|A,10)   total(A,10|T,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:798, None   



Context             (SEQ ID NO:3063):
AAGCTGGG
Y
ATGGAGCCCCTCAGCGGCGGCGGGGTCTGTGAGTTGGACGCGGGGTCTTGGCGGGGAATGGAGGTAGAATAAACGTGGGACCCGGAGTGCACCAAGGTGA
Celera SNP ID:            hCV3284383
SNP Position Transcript:  9
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,13)      total(C,1|T,13) ;JBIC-allele(C,431|T,860)   total(C,431|T,860)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:798, None   



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT1950209 - 66000115835211
Public Transcript Accession: NM_014681
Celera Protein:              hCP1763378 - 197000069435493
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10063229..10086838)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:102):
CAAGACTAGCGCTCTTGGGACCGGAAGTTAAGGCGTTCGCGGCGTGTGAATCCAGGGCCTGAAAACCCAGAATGAACTTGTGTCCATCCCAGAGATCACT
GCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGTSCCGTGACCAGGAGGAAAAATTA
GCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTTGGGTGATCAGAACT
GAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACYGGGCTCCCAGCGAGGAAGAGGCCTTG
GAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGA
AGTTTTGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATCCCAGC
GCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGRCTCTCAGGGACTGGGCAGGCACTTG
CCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAAGCTGCAGCGTGAGC
GGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTGGTGGTAGTGGCCGGTGACACCGGCTGTGGCAAGTC
CACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACCCAGCCCCGGCGGATCGCCTGCATCTCACTGGCCAAGCGTGTGGGC
TTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGCTTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGC
TGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTRGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCT
GGGCGTCCTCCAGCGCCTGTTGCSCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAAT
GCCCCTGTGGTACAGGTGCCTGGGAGGCTGTTCCCCATCACGGTTGTGTACCAGCCGCAGGAGGCGGAGCCGACCACGTCCAAGTCAGAGAAGCTGGACC
CGCGGCCTTTCCTGAGGGTGCTGGAGTCCATTGACCACAAGTACCCGCCTGAGGAGCGGGGTGACCTCCTCGTCTTCCTCAGCGGCATGGCGGAGATCAG
CGCCGTGCTGGAGGCTGCCCAGACCTATGCCAGCCACACCCAGCGCTGGGTGGTACTGCCACTGCACAGCGCCCTGTCTGTGGCCGACCAGGACAAGGTA
TTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTGAGACCTCAGTCACCATTGACGGGATCCGCTTCGTAGTAGATTCCG
GAAAGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGAGTTCTGGATTAGTCAGGCCAGCGCAGAGCAGCGGAAGGGCCGGGC
GGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCCRGAAATTCGGAGGGTGGCCCTG
GACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAGCCAGCCTGGAAACCGCCATCC
TCTACCTCCGGGACCAGGGGGCCCTGGACAGCTCAGAGGCCCTCACACCCATTGGGTCCCTGCTAGCCCAGCTGCCTGTGGACGTTGTGATTGGGAAGAT
GCTGATCCTGGGCTCCATGTTCAGCCTGGTGGAGCCTGTGCTCACCATCGCAGCCGCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGCCCAGAGCAGC
CCAGAGTGCGCGGCAGCAYGGCGGCCGCTGGAGAGCGACCAGGGTGACCCCTTCACGCTCTTCAACGTCTTCAACGCCTGGGTGCAG

Protein Sequence    (SEQ ID NO:799):
MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTY
DPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLL
AAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVVYQPQEAEPTTSKSEKLDPRPFLRVLESIDHKYPPEERGDLLVFLSGMAEISAVLEAAQT
YASHTQRWVVLPLHSALSVADQDKVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASAEQRKGRAGRTGPGVC
FRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDPRTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPVDVVIGKMLILGSMFS
LVEPVLTIAAALSVQSPFTRSAQSSPECAAARRPLESDQGDPFTLFNVFNAWVQ


SNP Information

Context             (SEQ ID NO:3064):
GAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCAC
Y
GGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACAT
Celera SNP ID:            hCV11507064
SNP Position Transcript:  374
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,2)   total(C,34|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 17, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,8|T,8)   total(C,8|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 17, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3065):
CAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCC
R
GAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAG
Celera SNP ID:            hCV1997523
SNP Position Transcript:  1879
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,11)      total(G,4|A,11) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:799, 518, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:3066):
TTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGT
S
CCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATA
Celera SNP ID:            hCV7513876
SNP Position Transcript:  178
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,3|G,37)   total(C,16|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:799, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,10)      total(G,10|C,3) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:799, None   



Context             (SEQ ID NO:3067):
CACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT
R
GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGG
Celera SNP ID:            hCV15962560
SNP Position Transcript:  1159
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,3|G,35)   total(A,13|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:799, 278, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(A,116|G,1375)   total(G,1375|A,116)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:799, 278, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:3068):
GTTCAGCCTGGTGGAGCCTGTGCTCACCATCGCAGCCGCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGCCCAGAGCAGCCCAGAGTGCGCGGCAGCA
Y
GGCGGCCGCTGGAGAGCGACCAGGGTGACCCCTTCACGCTCTTCAACGTCTTCAACGCCTGGGTGCAG
Celera SNP ID:            hCV1997501
SNP Position Transcript:  2219
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,6)   total(C,6|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 632, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3069):
GGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGG
R
CTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG
Celera SNP ID:            hCV25766301
SNP Position Transcript:  675
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 117, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 117, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3070):
GAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGC
S
CACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGG
Celera SNP ID:            hCV25763815
SNP Position Transcript:  1224
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:799, 300, (P,CCC)   (R,CGC)   



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT1814444 - 66000115835155
Public Transcript Accession: NM_014681
Celera Protein:              hCP1730054 - 197000069435488
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10066678..10100536)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:103):
AATCCAGGGCCTGAAAACCCAGAATGAACTTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCT
GGCCACTTTATCATCTGTGGTGGTCCTGTSCCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAA
ATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGA
GGGCAGGGATCGCCGAGACCACCACYGGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGAT
GCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGAAGTTTTGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGA
CCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCT
CTCTGTTCTTGGCCCTGCCACGCGGGRCTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTG
GACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAAGCTGCAGCGTGAGCGGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGC
TGAAGGAGCACCAGGTGGTGGTAGTGGCCGGTGACACCGGCTGTGGCAAGTCCACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGC
GTGCACCCAGCCCCGGCGGATCGCCTGCATCTCACTGGCCAAGCGTGTGGGCTTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGC
TTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGG
TCCTGATTGTRGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCSCACGCGGCCTGACCTCAAGGTCAT
CCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGGAGGCTGTTCCCCATCACGGTATTT
GATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTGAGACCTCAGTCACCATTGACGGGATCCGCTTCGTAGTAGATTCCGGAA
AGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGAGTTCTGGATTAGTCAGGCCAGCGCAGAGCAGCGGAAGGGCCGGGCGGG
CCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCCRGAAATTCGGAGGGTGGCCCTGGAC
TCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAGCCAGCCTGGAAACCGCCATCCTCT
ACCTCCGGGACCAGGGGGCCCTGGACAGCTCAGAGGCCCTCACACCCATTGGGTCCCTGCTAGCCCAGCTGCCTGTGGACGTTGTGATTGGGAAGATGCT
GATCCTGGGCTCCATGTTCAGCCTGGTGGAGCCTGTGCTCACCATCGCAGCCGCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGCCCAGAGCAGCCCA
GAGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCTGCACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGACGA
CAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTGGAGACCAACAAGCCGTACCTGGTGAACTGCGTCCGCATCCCTGCCCTC
CAGTCCCTCCTGCTTTTTAGCCGGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAA
GTGCCATCCGACTCCTGGCGGCKTCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGA
GGAGGAGGAGGATACGCCAGTCAGCCCCAAGGAGGTGGCCACCCTGAGCAAGGAACTCCTGCAATTCACGGCATCCAAGATTCCTTACAGCCTCCGGCGG
CTCACAGGGCTAGAAGTCCAGAACATGTATGTGGGACCCCAGACCATCCCAGCCACCCCCCATCTTCCTGGCCTCTTTGGCAGCTCCACCCTGTCCCCCC
ACCCCACAAAGGGGGGCTACGCAGTCACTGACTTCCTCACCTACAACTGCCTCACGAATGACACAGACCTGTACAGCGACTGTCTCCGAACCTTCTGGAC
CTGCCCCCACTGTGGCCTGCATGCGCCCCTCACGCCCCTGGAGCGCATCGCCCATGAGAACACCTGCCCCCAGGCCCCACAGGATGGGCCCCCAGGGGCT
GAGGAAGCTGCCCTCGAAACCCTCCAGAAGACATCTGTCCTGCAGAGGCCCTACCACTGCGAGGCCTGCGGGAAGGACTTCCTCTTTACACCCACAGAGG
TGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCYCTCCAGCCCAGGACTAGGGGCAGGACTC
TTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCYGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCKCACATGCTGATACACAC
TGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGG
GGTCCTGGGTAGGAGGGGCKTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGT
CCATCCTCAGTCTCTCCTWCCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGG
TGTTCACGTGGGACCACAGGCTGCACCATAAGACCCACTCACAATAAAAAAATAAAAGGCCGAGCCGGGCATGGTTGCTCACTCCCGTAATAAAAAAATA
AAAGAACATGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGA
ATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAGSTTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTT
TGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACACCAGCCCTTCCCTCCCTCTGCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCA
GCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCARGTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGA
GGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATTTTGATGAATACATTGTACATTTCTGTCCTGTATGTATCCA
GGGTTATAGGACGTGATTATAGGACACGCATATATGTTTGGTTTTAGTGGACTCTTAAAAATTGTTTTCCAGGGGCCGGGCACAGTGGCTTACGCCTGTA
ATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTATTGGGAGGC
CGAGGCGGGAGGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGG
TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGC
ACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAAAAAAG

Protein Sequence    (SEQ ID NO:800):
MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTY
DPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLL
AAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASA
EQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDPRTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPV
DVVIGKMLILGSMFSLVEPVLTIAAALSVQSPFTRSAQSSPEAPCCTPPASSLAAPRCCTHRSWRPATATEAETTRTR


SNP Information

Context             (SEQ ID NO:3071):
CATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGC
K
TTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTAC
Celera SNP ID:            hCV8716084
SNP Position Transcript:  3120
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3072):
CACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT
R
GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGG
Celera SNP ID:            hCV15962560
SNP Position Transcript:  1111
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,3|G,35)   total(A,13|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:800, 278, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(A,116|G,1375)   total(G,1375|A,116)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:800, 278, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:3073):
GAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGC
Y
CTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGT
Celera SNP ID:            hCV15871510
SNP Position Transcript:  2872
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3074):
CGTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCT
W
CCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAG
Celera SNP ID:            hCV1997477
SNP Position Transcript:  3219
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3075):
GAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGC
S
CACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGG
Celera SNP ID:            hCV25763815
SNP Position Transcript:  1176
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:800, 300, (P,CCC)   (R,CGC)   



Context             (SEQ ID NO:3076):
GGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGC
K
TCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCA
Celera SNP ID:            hCV25952618
SNP Position Transcript:  2223
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,28)   caucasian(G,1|T,17)   total(G,5|T,45)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None



Context             (SEQ ID NO:3077):
GAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCAC
Y
GGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACAT
Celera SNP ID:            hCV11507064
SNP Position Transcript:  326
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,2)   total(C,34|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:800, 17, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,8|T,8)   total(C,8|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:800, 17, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3078):
TTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGT
S
CCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATA
Celera SNP ID:            hCV7513876
SNP Position Transcript:  130
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,3|G,37)   total(C,16|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:800, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,10)      total(G,10|C,3) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3079):
CAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCC
R
GAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAG
Celera SNP ID:            hCV1997523
SNP Position Transcript:  1576
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,11)      total(G,4|A,11) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:800, 433, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:3080):
GGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCCCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCC
Y
GTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCTCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTG
Celera SNP ID:            hCV25951940
SNP Position Transcript:  2939
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,37)   total(C,1|T,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,218|T,1271)   total(C,218|T,1271) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3081):
GGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCC
K
CACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTG
Celera SNP ID:            hCV16057845
SNP Position Transcript:  2983
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,26)   caucasian(G,3|T,35)   total(G,11|T,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3082):
GGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGG
R
CTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG
Celera SNP ID:            hCV25766301
SNP Position Transcript:  627
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:800, 117, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:800, 117, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3083):
CGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAG
S
TTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACA
Celera SNP ID:            hCV1997470
SNP Position Transcript:  3540
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,4)      total(G,4|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Context             (SEQ ID NO:3084):
GCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCA
R
GTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATT
Celera SNP ID:            hCV26302098
SNP Position Transcript:  3760
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:800, None   



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT2276309 - 66000115835172
Public Transcript Accession: NM_014681
Celera Protein:              hCP1892225 - 197000069435489
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10063229..10100536)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:104):
CAAGACTAGCGCTCTTGGGACCGGAAGTTAAGGCGTTCGCGGCGTGTGAATCCAGGGCCTGAAAACCCAGAATGAACTTGTGTCCATCCCAGAGATCACT
GCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGTSCCGTGACCAGGAGGAAAAATTA
GCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTTGGGTGATCAGAACT
GAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACYGGGCTCCCAGCGAGGAAGAGGCCTTG
GAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGA
AGTTTTGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATCCCAGC
GCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGRCTCTCAGGGACTGGGCAGGCACTTG
CCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAAGCTGCAGCGTGAGC
GGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTGGTGGTAGTGGCCGGTGACACCGGCTGTGGCAAGTC
CACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACCCAGCCCCGGCGGATCGCCTGCATCTCACTGGCCAAGCGTGTGGGC
TTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGCTTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGC
TGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTRGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCT
GGGCGTCCTCCAGCGCCTGTTGCSCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAAT
GCCCCTGTGGTACAGGTGCCTGGGAGGCTGTTCCCCATCACGGTATTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTG
AGACCTCAGTCACCATTGACGGGATCCGCTTCGTAGTAGATTCCGGAAAGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGA
GTTCTGGATTAGTCAGGCCAGCGCAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGAT
GCCTTCGCCCCCTACCCCGTCCCRGAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCC
CCTTCATCGAGCCCCCACCACCAGCCAGCCTGGAAACCGCCATCCTCTACCTCCGGGACCAGGGGGCCCTGGACAGCTCAGAGGCCCTCACACCCATTGG
GTCCCTGCTAGCCCAGCTGCCTGTGGACGTTGTGATTGGGAAGATGCTGATCCTGGGCTCCATGTTCAGCCTGGTGGAGCCTGTGCTCACCATCGCAGCC
GCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGCCCAGAGCAGCCCAGAGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCT
GCACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGACGACAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTG
GAGACCAACAAGCCGTACCTGGTGAACTGCGTCCGCATCCCTGCCCTCCAGTCCCTCCTGCTTTTTAGCCGGTCTTTGGACACCAATGGTGACTGCTCCC
GCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGCKTCCCTGCGGCTCCGTGCCCGCTGGGAAAG
TGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCAGCCCCAAGGAGGTGGCCACCCTGAGCAAG
GAACTCCTGCAATTCACGGCATCCAAGATTCCTTACAGCCTCCGGCGGCTCACAGGGCTAGAAGTCCAGAACATGTATGTGGGACCCCAGACCATCCCAG
CCACCCCCCATCTTCCTGGCCTCTTTGGCAGCTCCACCCTGTCCCCCCACCCCACAAAGGGGGGCTACGCAGTCACTGACTTCCTCACCTACAACTGCCT
CACGAATGACACAGACCTGTACAGCGACTGTCTCCGAACCTTCTGGACCTGCCCCCACTGTGGCCTGCATGCGCCCCTCACGCCCCTGGAGCGCATCGCC
CATGAGAACACCTGCCCCCAGGCCCCACAGGATGGGCCCCCAGGGGCTGAGGAAGCTGCCCTCGAAACCCTCCAGAAGACATCTGTCCTGCAGAGGCCCT
ACCACTGCGAGGCCTGCGGGAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCAC
CTCCGTGCAGCTGACCTGCYCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCYGTCCCAGTGCAGA
GGGCCTGGAGCACGGATTGTGAATAAAGCCKCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCT
CCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGCKTTAGAGCCAGCAGGGACCTCCCATGTCTCCAG
ATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTWCCCCTTGAAGTAGGGGGACCCTGAATTTGCCCA
TCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAGGCTGCACCATAAGACCCACTCACAATAAAAAAA
TAAAAGGCCGAGCCGGGCATGGTTGCTCACTCCCGTAATAAAAAAATAAAAGAACATGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCGTGACCAA
CATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAGSTTGCATGGGCTT
GGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACACCAGCCCTTCCC
TCCCTCTGCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGA
GGTATCARGTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTA
CCTGGATTTTGATGAATACATTGTACATTTCTGTCCTGTATGTATCCAGGGTTATAGGACGTGATTATAGGACACGCATATATGTTTGGTTTTAGTGGAC
TCTTAAAAATTGTTTTCCAGGGGCCGGGCACAGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACCTGAGGTCAGGAGTT
CAAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTATTGGGAGGCCGAGGCGGGAGGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACACG
GTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGA
GTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAAAAAAG

Protein Sequence    (SEQ ID NO:801):
MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTY
DPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLL
AAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASA
EQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDPRTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPV
DVVIGKMLILGSMFSLVEPVLTIAAALSVQSPFTRSAQSSPEAPCCTPPASSLAAPRCCTHRSWRPATATEAETTRTR


SNP Information

Context             (SEQ ID NO:3085):
CATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGC
K
TTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTAC
Celera SNP ID:            hCV8716084
SNP Position Transcript:  3168
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3086):
CACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT
R
GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGG
Celera SNP ID:            hCV15962560
SNP Position Transcript:  1159
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,3|G,35)   total(A,13|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:801, 278, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(A,116|G,1375)   total(G,1375|A,116)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:801, 278, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:3087):
GAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGC
Y
CTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGT
Celera SNP ID:            hCV15871510
SNP Position Transcript:  2920
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3088):
CGTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCT
W
CCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAG
Celera SNP ID:            hCV1997477
SNP Position Transcript:  3267
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3089):
GAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGC
S
CACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGG
Celera SNP ID:            hCV25763815
SNP Position Transcript:  1224
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:801, 300, (P,CCC)   (R,CGC)   



Context             (SEQ ID NO:3090):
GGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGC
K
TCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCA
Celera SNP ID:            hCV25952618
SNP Position Transcript:  2271
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,28)   caucasian(G,1|T,17)   total(G,5|T,45)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None



Context             (SEQ ID NO:3091):
GAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCAC
Y
GGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACAT
Celera SNP ID:            hCV11507064
SNP Position Transcript:  374
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,2)   total(C,34|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:801, 17, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,8|T,8)   total(C,8|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:801, 17, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3092):
TTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGT
S
CCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATA
Celera SNP ID:            hCV7513876
SNP Position Transcript:  178
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,3|G,37)   total(C,16|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:801, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,10)      total(G,10|C,3) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3093):
CAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCC
R
GAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAG
Celera SNP ID:            hCV1997523
SNP Position Transcript:  1624
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,11)      total(G,4|A,11) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:801, 433, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:3094):
GGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCCCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCC
Y
GTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCTCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTG
Celera SNP ID:            hCV25951940
SNP Position Transcript:  2987
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,37)   total(C,1|T,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,218|T,1271)   total(C,218|T,1271) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3095):
GGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCC
K
CACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTG
Celera SNP ID:            hCV16057845
SNP Position Transcript:  3031
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,26)   caucasian(G,3|T,35)   total(G,11|T,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3096):
GGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGG
R
CTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG
Celera SNP ID:            hCV25766301
SNP Position Transcript:  675
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:801, 117, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:801, 117, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3097):
CGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAG
S
TTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACA
Celera SNP ID:            hCV1997470
SNP Position Transcript:  3588
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,4)      total(G,4|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Context             (SEQ ID NO:3098):
GCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCA
R
GTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATT
Celera SNP ID:            hCV26302098
SNP Position Transcript:  3808
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:801, None   



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT1950210 - 66000115835222
Public Transcript Accession: NM_014681
Celera Protein:              hCP1763395 - 197000069435494
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10063229..10100536)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:105):
CAAGACTAGCGCTCTTGGGACCGGAAGTTAAGGCGTTCGCGGCGTGTGAATCCAGGGCCTGAAAACCCAGAATGAACTTGTGTCCATCCCAGAGATCACT
GCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGTSCCGTGACCAGGAGGAAAAATTA
GCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTTGGGTGATCAGAACT
GAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACYGGGCTCCCAGCGAGGAAGAGGCCTTG
GAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGA
AGTTTTGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATCCCAGC
GCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGRCTCTCAGGGACTGGGCAGGCACTTG
CCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAAGCTGCAGCGTGAGC
GGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTGGTGGTAGTGGCCGGTGACACCGGCTGTGGCAAGTC
CACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACCCAGCCCCGGCGGATCGCCTGCATCTCACTGGCCAAGCGTGTGGGC
TTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGCTTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGC
TGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTRGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCT
GGGCGTCCTCCAGCGCCTGTTGCSCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAAT
GCCCCTGTGGTACAGGTGCCTGGGAGGCTGTTCCCCATCACGGTATTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTG
AGACCTCAGTCACCATTGACGGGATCCGCTTCGTAGTAGATTCCGGAAAGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGA
GTTCTGGATTAGTCAGGCCAGCGCAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGAT
GCCTTCGCCCCCTACCCCGTCCCRGAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCC
CCTTCATCGAGCCCCCACCACCAGCCAGCCTGGAAACCGCCATCCTCTACCTCCGGGACCAGGGGGCCCTGGACAGCTCAGAGGCCCTCACACCCATTGG
GTCCCTGCTAGCCCAGCTGCCTGTGGACGTTGTGATTGGGAAGATGCTGATCCTGGGCTCCATGTTCAGCCTGGTGGAGCCTGTGCTCACCATCGCAGCC
GCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGCCCAGAGCAGCCCAGAGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCT
GCACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGACGACAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTG
GAGACCAACAAGCCGTACCTGGTGAACTGCGTCCGCATCCCTGCCCTCCAGTCCCTCCTGCTTTTTAGCCGGTCTTTGGACACCAATGGTGACTGCTCCC
GCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGCKTCCCTGCGGCTCCGTGCCCGCTGGGAAAG
TGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCAGCCCCAAGGAGGTGGCCACCCTGAGCAAG
GAACTCCTGCAATTCACGGCATCCAAGATTCCTTACAGCCTCCGGCGGCTCACAGGGCTAGAAGTCCAGAACATGTATGTGGGACCCCAGACCATCCCAG
CCACCCCCCATCTTCCTGGCCTCTTTGGCAGCTCCACCCTGTCCCCCCACCCCACAAAGGGGGGCTACGCAGTCACTGACTTCCTCACCTACAACTGCCT
CACGGTAAGCATGAACCCTCCTTCCCTGAAGGTGGGATTTCAGGAAGACCCCACCACCCCGTTTCACCTTAGTCCAGGGACATAGTTCCCAAGTGGGGCC
CRTGGCCCTGAGGGCTTCTGGGAAGGGTCCCGGGGGGGCACTTGGGTGGTGGGTGGCACTTGGCGGGGGCCCAGCCCTGACAGCTGGCCTGCCACAGAAT
GACACAGACCTGTACAGCGACTGTCTCCGAACCTTCTGGACCTGCCCCCACTGTGGCCTGCATGCGCCCCTCACGCCCCTGGAGCGCATCGCCCATGAGA
ACACCTGCCCCCAGGCCCCACAGGATGGGCCCCCAGGGGCTGAGGAAGCTGCCCTCGAAACCCTCCAGAAGACATCTGTCCTGCAGAGGCCCTACCACTG
CGAGGCCTGCGGGAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTG
CAGCTGACCTGCYCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCYGTCCCAGTGCAGAGGGCCTG
GAGCACGGATTGTGAATAAAGCCKCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGG
GTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGCKTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAG
GTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTWCCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCT
GGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAGGCTGCACCATAAGACCCACTCACAATAAAAAAATAAAAGG
CCGAGCCGGGCATGGTTGCTCACTCCCGTAATAAAAAAATAAAAGAACATGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCGTGACCAACATTCTT
AATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAGSTTGCATGGGCTTGGTTCAT
TCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACACCAGCCCTTCCCTCCCTCT
GCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCA
RGTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGAT
TTTGATGAATACATTGTACATTTCTGTCCTGTATGTATCCAGGGTTATAGGACGTGATTATAGGACACGCATATATGTTTGGTTTTAGTGGACTCTTAAA
AATTGTTTTCCAGGGGCCGGGCACAGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATC
AGCCTGACCAACATGGAGAAACCCCGTCTCTATTGGGAGGCCGAGGCGGGAGGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC
CCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACC
CGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAAAAAAG

Protein Sequence    (SEQ ID NO:802):
MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTY
DPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLL
AAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASA
EQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDPRTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPV
DVVIGKMLILGSMFSLVEPVLTIAAALSVQSPFTRSAQSSPEAPCCTPPASSLAAPRCCTHRSWRPATATEAETTRTR


SNP Information

Context             (SEQ ID NO:3099):
CATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGC
K
TTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTAC
Celera SNP ID:            hCV8716084
SNP Position Transcript:  3361
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3100):
CACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT
R
GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGG
Celera SNP ID:            hCV15962560
SNP Position Transcript:  1159
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,3|G,35)   total(A,13|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:802, 278, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(A,116|G,1375)   total(G,1375|A,116)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:802, 278, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:3101):
GAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGC
Y
CTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGT
Celera SNP ID:            hCV15871510
SNP Position Transcript:  3113
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3102):
CGTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCT
W
CCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAG
Celera SNP ID:            hCV1997477
SNP Position Transcript:  3460
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3103):
GAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGC
S
CACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGG
Celera SNP ID:            hCV25763815
SNP Position Transcript:  1224
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:802, 300, (P,CCC)   (R,CGC)   



Context             (SEQ ID NO:3104):
GGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGC
K
TCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCA
Celera SNP ID:            hCV25952618
SNP Position Transcript:  2271
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,28)   caucasian(G,1|T,17)   total(G,5|T,45)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None



Context             (SEQ ID NO:3105):
GAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCAC
Y
GGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACAT
Celera SNP ID:            hCV11507064
SNP Position Transcript:  374
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,2)   total(C,34|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:802, 17, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,8|T,8)   total(C,8|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:802, 17, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3106):
TTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGT
S
CCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATA
Celera SNP ID:            hCV7513876
SNP Position Transcript:  178
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,3|G,37)   total(C,16|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:802, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,10)      total(G,10|C,3) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3107):
CAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCCCTACCCCGTCCC
R
GAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTTCATCGAGCCCCCACCACCAG
Celera SNP ID:            hCV1997523
SNP Position Transcript:  1624
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,11)      total(G,4|A,11) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:802, 433, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:3108):
GGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCCCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCC
Y
GTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCTCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTG
Celera SNP ID:            hCV25951940
SNP Position Transcript:  3180
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,37)   total(C,1|T,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,218|T,1271)   total(C,218|T,1271) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3109):
GGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCC
K
CACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTG
Celera SNP ID:            hCV16057845
SNP Position Transcript:  3224
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,26)   caucasian(G,3|T,35)   total(G,11|T,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3110):
GGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGG
R
CTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG
Celera SNP ID:            hCV25766301
SNP Position Transcript:  675
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:802, 117, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:802, 117, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3111):
CGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAG
S
TTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACA
Celera SNP ID:            hCV1997470
SNP Position Transcript:  3781
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,4)      total(G,4|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3112):
GCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCA
R
GTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATT
Celera SNP ID:            hCV26302098
SNP Position Transcript:  4001
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None   



Context             (SEQ ID NO:3113):
ACGGTAAGCATGAACCCTCCTTCCCTGAAGGTGGGATTTCAGGAAGACCCCACCACCCCGTTTCACCTTAGTCCAGGGACATAGTTCCCAAGTGGGGCCC
R
TGGCCCTGAGGGCTTCTGGGAAGGGTCCCGGGGGGGCACTTGGGTGGTGGGTGGCACTTGGCGGGGGCCCAGCCCTGACAGCTGGCCTGCCACAGAATGA
Celera SNP ID:            hCV25953501
SNP Position Transcript:  2702
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:802, None



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT2276312 - 66000115835190
Public Transcript Accession: NM_014681
Celera Protein:              hCP1892227 - 197000069435491
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10089688..10100536)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:106):
TCCCAGGGGACATGGCCCTGTCCTCATTTCAGGAGCCGGGTTTCCATGGACGGTGCTTGGTCYCAGGTATCTGCAGAGCCTGGGGGTCTGCGGATCATGG
TAGGAGCCCCTCAGGTCCCCTAAGACTCTGCCTCCCCGTGCTCCCCCCAGGATGTGAAGTTCAAGCTTCGGCATGACCTGGCGCAGCTGCAGGCCGCTGC
CAGCTCAGCCCAGGACCTGAGCCGCGAGCAGCTGGCTCTGCTGAAGCTRGTGCTGGGCCGGGGCCTGTACCCACAGCTGGCCGTCCCCGACGCCTTCAAC
AGCAGCCGAAAGGACTCAGACCAGATTTTCCACACGCAGGCCAAGCAGGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCTGC
ACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGGCATGGCTGCGTGCTGGGAGTCACATTCAGATTTGGCTGACCTTCTTGTCTGAGCCAG
GCCACCAAAGCCATGCCACGACAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTGGAGACCAACAAGCCGTACCTGGTGAAC
TGCGTCCGCATCCCTGCCCTCCAGTCCCTCCTGCTTTTTAGCCGGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGC
TGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGCKTCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCA
GGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCAGCCCCAAGGAGGTGGCCACCCTGAGCAAGGAACTCCTGCAATTCACGGCATCCAAG
ATTCCTTACAGCCTCCGGCGGCTCACAGGGCTAGAAGTCCAGAACATGTATGTGGGACCCCAGACCATCCCAGCCACCCCCCATCTTCCTGGCCTCTTTG
GCAGCTCCACCCTGTCCCCCCACCCCACAAAGGGGGGCTACGCAGTCACTGACTTCCTCACCTACAACTGCCTCACGGTAAGCATGAACCCTCCTTCCCT
GAAGGTGGGATTTCAGGAAGACCCCACCACCCCGTTTCACCTTAGTCCAGGGACATAGTTCCCAAGTGGGGCCCRTGGCCCTGAGGGCTTCTGGGAAGGG
TCCCGGGGGGGCACTTGGGTGGTGGGTGGCACTTGGCGGGGGCCCAGCCCTGACAGCTGGCCTGCCACAGAATGACACAGACCTGTACAGCGACTGTCTC
CGAACCTTCTGGACCTGCCCCCACTGTGGCCTGCATGCGCCCCTCACGCCCCTGGAGCGCATCGCCCATGAGAACACCTGCCCCCAGGCCCCACAGGATG
GGCCCCCAGGGGCTGAGGAAGCTGCCCTCGAAACCCTCCAGAAGACATCTGTCCTGCAGAGGCCCTACCACTGCGAGGCCTGCGGGAAGGACTTCCTCTT
TACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCYCTCCAGCCCAGGAC
TAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCYGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCKCAC
ATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAG
GGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGCKTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCC
GCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTWCCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGG
GCTGGGAGCACTGGTGTTCACGTGGGACCACAGGCTGCACCATAAGACCCACTCACAATAAAAAAATAAAAGGCCGAGCCGGGCATGGTTGCTCACTCCC
GTAATAAAAAAATAAAAGAACATGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCT
AAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAGSTTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAA
TATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACACCAGCCCTTCCCTCCCTCTGCAGAACAAAGGCCCCATCAGAGGGGA
CGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCARGTGGGTGGAGGGGAGACGCTCAGGAG
GTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATTTTGATGAATACATTGTACATTTCTGT
CCTGTATGTATCCAGGGTTATAGGACGTGATTATAGGACACGCATATATGTTTGGTTTTAGTGGACTCTTAAAAATTGTTTTCCAGGGGCCGGGCACAGT
GGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGACCAACATGGAGAAACCCCGT
CTCTATTGGGAGGCCGAGGCGGGAGGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA
TTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAA
GATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAAAAAAG

Protein Sequence    (SEQ ID NO:803):
MSSKHQLLSFVSLLETNKPYLVNCVRIPALQSLLLFSRSLDTNGDCSRLVADGWLELQLADSESAIRLLAASLRLRARWESALDRQLAHQAQQQLEEEEE
DTPVSPKEVATLSKELLQFTASKIPYSLRRLTGLEVQNMYVGPQTIPATPHLPGLFGSSTLSPHPTKGGYAVTDFLTYNCLTVSMNPPSLKVGFQEDPTT
PFHLSPGT


SNP Information

Context             (SEQ ID NO:3114):
CATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTGCAGGGTGCTGCCTGAGGGGTCCTGGGTAGGAGGGGC
K
TTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCTAC
Celera SNP ID:            hCV8716084
SNP Position Transcript:  1834
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3115):
GAAGGACTTCCTCTTTACACCCACAGAGGTGCTGCGCCACCGGAAGCAGCACGTGTGAGCTGGGCCAGGAGCCCTGCCCACCTCCGTGCAGCTGACCTGC
Y
CTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGT
Celera SNP ID:            hCV15871510
SNP Position Transcript:  1586
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3116):
CGTTAGAGCCAGCAGGGACCTCCCATGTCTCCAGATTCCAGGTGCAGGTTCTTAGCACCTCCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCT
W
CCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCTGGGTCACTTTGAGAGTTGTGCAGGGGGGCTGGGAGCACTGGTGTTCACGTGGGACCACAG
Celera SNP ID:            hCV1997477
SNP Position Transcript:  1933
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|A,5)      total(A,5|T,3) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3117):
GGTCTTTGGACACCAATGGTGACTGCTCCCGCCTGGTGGCCGATGGCTGGCTGGAGCTGCAGCTAGCAGACAGTGAAAGTGCCATCCGACTCCTGGCGGC
K
TCCCTGCGGCTCCGTGCCCGCTGGGAAAGTGCCCTGGACCGGCAGCTGGCGCACCAGGCCCAGCAGCAGCTGGAGGAGGAGGAGGAGGATACGCCAGTCA
Celera SNP ID:            hCV25952618
SNP Position Transcript:  744
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,28)   caucasian(G,1|T,17)   total(G,5|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:803, 71, (A,GCG)   (A,GCT)   



Context             (SEQ ID NO:3118):
AGGATGTGAAGTTCAAGCTTCGGCATGACCTGGCGCAGCTGCAGGCCGCTGCCAGCTCAGCCCAGGACCTGAGCCGCGAGCAGCTGGCTCTGCTGAAGCT
R
GTGCTGGGCCGGGGCCTGTACCCACAGCTGGCCGTCCCCGACGCCTTCAACAGCAGCCGAAAGGACTCAGACCAGATTTTCCACACGCAGGCCAAGCAGG
Celera SNP ID:            hCV1997488
SNP Position Transcript:  249
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3119):
GGAGCCCTGCCCACCTCCGTGCAGCTGACCTGCCCTCCAGCCCAGGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCC
Y
GTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCCTCACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTG
Celera SNP ID:            hCV25951940
SNP Position Transcript:  1653
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,37)   total(C,1|T,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,218|T,1271)   total(C,218|T,1271) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3120):
GGACTAGGGGCAGGACTCTTGCCTGAACCCCCAGCCTGGGCTTAGCCCTGTGGTCCTGTCCCAGTGCAGAGGGCCTGGAGCACGGATTGTGAATAAAGCC
K
CACATGCTGATACACACTGTTAGGCCTGCACCTGCCCATCCAGAAAGCAGCAGCTGCCTTGTTAGTCCTCCCCAGGGTCTAGCTTTCCTTCTTCCTGCTG
Celera SNP ID:            hCV16057845
SNP Position Transcript:  1697
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,26)   caucasian(G,3|T,35)   total(G,11|T,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3121):
CGGCCGTGACCAACATTCTTAATCTGTCCTCTAGTGCTGGCCACTCTAAAACTTCACAAGAATGTGCTGTCTGTGTCTAGCTTCTTTTACCCAACATGAG
S
TTGCATGGGCTTGGTTCATTCATTCTGTTCCATGAATTCATCACAATATATCCATTCTTTTGTCCAGGGACATTTGGCTTCCAGAAACCTACCCCTAACA
Celera SNP ID:            hCV1997470
SNP Position Transcript:  2254
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,4)      total(G,4|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3122):
GCAGAACAAAGGCCCCATCAGAGGGGACGTGCTGGGTGTCAGCGTCAGCTTCTGGGAGGAGGAAGGTCAGAGCTAAGGCCTGAAGGATGATGAGGTATCA
R
GTGGGTGGAGGGGAGACGCTCAGGAGGTGGGAAAGGCGGAGGTGCACAGGCTTGGTTCCAGGTACAAATAACGTTACTAGGAGCACACAGTACCTGGATT
Celera SNP ID:            hCV26302098
SNP Position Transcript:  2474
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None   



Context             (SEQ ID NO:3123):
ACGGTAAGCATGAACCCTCCTTCCCTGAAGGTGGGATTTCAGGAAGACCCCACCACCCCGTTTCACCTTAGTCCAGGGACATAGTTCCCAAGTGGGGCCC
R
TGGCCCTGAGGGCTTCTGGGAAGGGTCCCGGGGGGGCACTTGGGTGGTGGGTGGCACTTGGCGGGGGCCCAGCCCTGACAGCTGGCCTGCCACAGAATGA
Celera SNP ID:            hCV25953501
SNP Position Transcript:  1175
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:803, None



Context             (SEQ ID NO:3124):
TCCCAGGGGACATGGCCCTGTCCTCATTTCAGGAGCCGGGTTTCCATGGACGGTGCTTGGTC
Y
CAGGTATCTGCAGAGCCTGGGGGTCTGCGGATCATGGTAGGAGCCCCTCAGGTCCCCTAAGACTCTGCCTCCCCGTGCTCCCCCCAGGATGTGAAGTTCA
Celera SNP ID:            hCV29059761
SNP Position Transcript:  63
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:803, None   



Gene Number:                 49
Celera Gene:                 hCG1775766 - 66000115835154
Celera Transcript:           hCT2276308 - 66000115835202
Public Transcript Accession: NM_014681
Celera Protein:              hCP1892228 - 197000069435492
Public Protein Accession:    NP_055496
Gene Symbol:                 DHX34
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 34;DDX34;HRH1;KIAA0134
Celera Genomic Axis:         GA_x5YUV32VTL1(10063438..10086768)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:107):
GATGGCACCTGAGCGTCCCTGGGAGAACCTGGGCGACAGGCCAGAGACCGAAAGAAATGGAGAATCCAGGGCCTGAAAACCCAGAATGAACTTGTGTCCA
TCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGTSCCGTGACC
AGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTT
GGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACYGGGCTCCCAGCG
AGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTC
TGAGGAATGTCAGAAGTTTTGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAG
CACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGRCTCTCAGGGAC
TGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAA
GCTGCAGCGTGAGCGGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTGGTGGTAGTGGCCGGTGACACC
GGCTGTGGCAAGTCCACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACCCAGCCCCGGCGGATCGCCTGCATCTCACTGG
CCAAGCGTGTGGGCTTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGCTTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATT
CCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTRGATGAAGTCCATGAGCGGCATCTCCAC
AACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCSCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCA
GCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGGAGGCTGTTCCCCATCACGGTATTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTC
CACCAACATTGCTGAGACCTCAGTCACCATTGACGGGATCCGCTTCGTAGTAGATTCCGATGAAGAGCATGAGTGTGGGGGACCCCCGAACCTTCCCCTT
CATCGAGCCCCCACCACCAGCCAGCCTGGAAACCGCCATCCTCTACCTCCGGGACCAGGGGGCCCTGGACAGCTCAGAGGCCCTCACACCCATTGGGTCC
CTGCTAGCCCAGCTGCCTGTGGACGTTGTGATTGCCTGGTGGAGCCTGTGCTCACCATCGCAGCCGCACTTAGCGTCCAGTCGCCCTTCACCCGCAGCGC
CCAGAGCAGCCCAGAGTGCGCGGCAGC

Protein Sequence    (SEQ ID NO:804):
MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTY
DPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLL
AAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSDEEHECGGPPNLPLHRAPTTSQPGNRH
PLPPGPGGPGQLRGPHTHWVPASPAACGRCDCLVEPVLTIAAALSVQSPFTRSAQSSPECAAX


SNP Information

Context             (SEQ ID NO:3125):
GAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCAC
Y
GGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACAT
Celera SNP ID:            hCV11507064
SNP Position Transcript:  388
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,2)   total(C,34|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:804, 17, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,8|T,8)   total(C,8|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:804, 17, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3126):
TTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTTTATCATCTGTGGTGGTCCTGT
S
CCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTTAAATTGTTGCAGGTGGGGAATGGATGAGAATA
Celera SNP ID:            hCV7513876
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,3|G,37)   total(C,16|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:804, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,10)      total(G,10|C,3) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:804, None   



Context             (SEQ ID NO:3127):
CACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT
R
GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGACCTCAAGGTCATCCTCATGTCGG
Celera SNP ID:            hCV15962560
SNP Position Transcript:  1173
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,3|G,35)   total(A,13|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:804, 278, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(A,116|G,1375)   total(G,1375|A,116)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:804, 278, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:3128):
GGACAGCCCAAGCACAGCATCCCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGG
R
CTCTCAGGGACTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG
Celera SNP ID:            hCV25766301
SNP Position Transcript:  689
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:804, 117, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:804, 117, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3129):
GAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGC
S
CACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGG
Celera SNP ID:            hCV25763815
SNP Position Transcript:  1238
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:804, 300, (P,CCC)   (R,CGC)   



Gene Number:                 50
Celera Gene:                 hCG1776881 - 145000146894000
Celera Transcript:           hCT1815600 - 145000146894001
Public Transcript Accession: NM_002500
Celera Protein:              hCP1723225 - 197000064925637
Public Protein Accession:    NP_002491
Gene Symbol:                 NEUROD1
Protein Name:                neurogenic differentiation 1;BETA2;BHF-1;NIDDM;NeuroD
Celera Genomic Axis:         GA_x5YUV32W8UP(12774751..12779260)
Chromosome:                  Chr2
OMIM number:                 601724
OMIM Information:            NEUROGENIC DIFFERENTIATION 1;NEUROD1


Transcript Sequence (SEQ ID NO:108):
GGGAGCGCACAGCCTGGACGCGTGCGCAGGCGTCAGGCGCATAGACCTGCTAGCCCCTCAGCTAGCGGCCCCGCCCGCGCTTAGCATCACTAACTGGGCT
ATATAACCTGAGCGCCCGCGCGGCCACGACACGAGGAATTCGCCCACGCAGGAGGCRCGGCGTCCGGAGGCCCCAGGGTTATGAGACTATCACTGCTCAG
GACCTACTAACAACAAAGGAAATCGAAACATGACCAAATCGTACAGCGAGAGTGGGCTGATGGGCGAGCCTCAGCCCCAAGGTCCTCCAAGCTGGACAGA
CGAGTGTCTCAGTTCTCAGGACGAGGAGCACGAGGCAGACAAGAAGGAGGACGACCTCGAARCCATGAACGCAGAGGAGGACTCACTGAGGAACGGGGGA
GAGGAGGAGGACGAAGATGAGGACCTGGAAGAGGAGGAAGAAGAGGAAGAGGAGGATGACGATCAAAAGCCCAAGAGACGCGGCCCCAAAAAGAAGAAGA
TGACTAAGGCTCGCCTGGAGCGTTTTAAATTGAGACGCATGAAGGCTAACGCCCGGRAGCKGAACCGCATGCACGGACTGAACGCGGCGCTAGACAACCT
GCGCAAGGTGGTGCCTTGCTATTCTAAGACGCAGAAGCTGTCCAAAATCGAGACTCTGCGCTTGGCCAAGAACTACATCTGGGCTCTGTCGGAGATCCTG
CGCTCAGGCAAAAGCCCAGACCTGGTCTCCTTCGTTCAGACGCTTTGCAAGGGCTTATCCCAACCCACCACCAACCTGGTTGCGGGCTGCCTGCAACTCA
ATCCTCGGACTTTTCTGCMTGAGCAGAACCAGGACATGCCCCCCCACCTGCCGACGGCCAGCGCTTCCTTCCCTGTACACCCCTACTCCTACCAGTCGCC
TGGGCTGCCCAGTCCGCCTTACGGTACCATGGACAGCTCCCATGTCTTCCACGTTAAGCCTCCGCCGCACGCCTACAGCGCAGCGCTGGAGCCCTTCTTT
GAAAGCCCTCTGACTGATTGCACCAGCCCTTCCTTTGATGGACCCCTCAGCCCGCCGCTCAGCATCAATGGCAACTTCTCTTTCAAACACGAACCGTCCG
CCGAGTTTGAGAAAAATTATGCCTTTACCATGCACTATCCTGCAGCGACACTGGCAGGGGCCCAAAGCCACGGATCAATCTTCTCAGGCACCGCTGCCCC
TCGCTGCGAGATCCCCATAGACAATATTATGTCCTTCGATAGCCATTCACATCATGAGCGAGTCATGAGTGCCCAGCTCAATGCCATATTTCATGATTAG
AGGCACGCCAGTTTCACCATTTCCGGGAAACGAACCCACTGTGCTTACAGTGACTGTCGTGTTTACAAAAGGCAGCCCTTTGGGTACTACTGCTGCAAAG
TGCAAATACTCCAAGCTTCAAGTGATATATGTATTTATTGTCATTACTGCCTTTGGAAGAAACAGGGGATCAAAGTTCCTGTTCACCTTATGTATTATTT
TCTATAGCTCTTCTATTTAAAAAATAAAAAAATACAGTAAAGTTTAAAAAATACACCACGAATTTGGTGTGGCTGTATTCAGATCGTATTAATTATCTGA
TCGGGATAACAAAATCMCAAGCAATAATTAGGATYTATGCAATTTTTAAACTAGTAATGGGCCAATTAAAATATATATAAATATATATTTTTCAACCAGC
ATTTTACTACTTGTTACCTTTCCCATGCTGAATTATTTTGTTGTGATTTTGTACAGAATTTTTAATGACTTTTTATAATGTGGATTTCCTATTTTAAAAC
CATGCAGCTTCATCAATTTTTATACATATCAGAAAAGTAGAATTATATYTAATTTATACAAAATAATTTAACTAATTTAAACCAGCAGAAAAGTGCTTAG
AAAGTTATTGTGTTGCCTTAGCACTTCTTTCCTCTCCAATTGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGCACAATTTGAGCAATTCATTT
CACTTTAAAGTCTTTCCGTCTCCCTAAAATAAAAACCAGAATCATAATTTTCAAGAGAAGAAAAAATTAAGAGATACATTCCCTATCAAAACATATCAAT
TCAACACATTACTTGCACAAGCTTGTATATACATATTATAAATAAATGCCAACATACCCTTCTTTAAATCAAAAGCTGCTTGACTATCACATACAATTTG
CACTGTTACTTTTTAGTCTTTTACTCCTTTGCATTCCATGATTTTACAGAGAATCTGAAGCTATTGATGTTTCCAGAAAATATAAATGCATGATTTTATA
CATAGTCACAAAAATGGTGGTTTGTCATATATTCATGTAATAAATCTGAGCCTAAATCTAATCAGGTTGTTAATGTTGGGATTTATATCTATAGTAGTCA
ATTAGTACAGTAGCTTAAATAAATTCAAACCATTTAATTCATAATTAGAACAATAGCTATTGCATGTAAAATGCAGTCCAGAATAAGTGCTGTTTGAGAT
GTGATGCTGGTACCACTGGAATCGATCTGTACTGTAATTTTGTTTGTAATCCTGTATATTATGGTGTAATGCACAATTTAGAAAACATTCATCCAGTTGC
AATAAAATAGTATTGAAAGTGAGAGCAATTGTTGCATTTCTTCTTAAAGGGATTCTGTTTTTATTTTTGGGGAAAGTAGTTGCTTTTTTGCTGAGTTAAA
AAATACTAAACACTATATGTAGAATAAAAGAAAAGAAAAAAGTTTACCTTGGCATATGCTCTTGTCTGTTTATCTTGCACAGGGAGTCACCAGTTCTATG
TAGATAATGAAAAGACCTAACTGATATTTCATTATTTGGAATATGGGACTGGACGGCAGTACAAACAGTGTGTTTTTTTCTTTGTTTTAAGTGGCTTAGC
CTTTAGGTTTTTTATTTCCATTTTTAAAAATGATTGTTACATGTTTTCTTC

Protein Sequence    (SEQ ID NO:805):
MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLEAMNAEEDSLRNGGEEEDEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFK
LRRMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKSPDLVSFVQTLCKGLSQPTTNLVAGCLQLNPRTFLPEQN
QDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVFHVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFT
MHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD


SNP Information

Context             (SEQ ID NO:3130):
GGGCGAGCCTCAGCCCCAAGGTCCTCCAAGCTGGACAGACGAGTGTCTCAGTTCTCAGGACGAGGAGCACGAGGCAGACAAGAAGGAGGACGACCTCGAA
R
CCATGAACGCAGAGGAGGACTCACTGAGGAACGGGGGAGAGGAGGAGGACGAAGATGAGGACCTGGAAGAGGAGGAAGAAGAGGAAGAGGAGGATGACGA
Celera SNP ID:            hCV11951412
SNP Position Transcript:  362
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,11|G,27)   total(A,17|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 45, (T,ACC)   (A,GCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): French caucasian type II diabetics(A,166|G,229)   Controls: spouses of diabetics(A,88|G,139)      total(G,368|A,254) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 45, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:3131):
TTAAAAAATAAAAAAATACAGTAAAGTTTAAAAAATACACCACGAATTTGGTGTGGCTGTATTCAGATCGTATTAATTATCTGATCGGGATAACAAAATC
M
CAAGCAATAATTAGGATCTATGCAATTTTTAAACTAGTAATGGGCCAATTAAAATATATATAAATATATATTTTTCAACCAGCATTTTACTACTTGTTAC
Celera SNP ID:            hCV11951413
SNP Position Transcript:  1617
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,12)      total(A,12|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:805, None   



Context             (SEQ ID NO:3132):
CAGTAAAGTTTAAAAAATACACCACGAATTTGGTGTGGCTGTATTCAGATCGTATTAATTATCTGATCGGGATAACAAAATCACAAGCAATAATTAGGAT
Y
TATGCAATTTTTAAACTAGTAATGGGCCAATTAAAATATATATAAATATATATTTTTCAACCAGCATTTTACTACTTGTTACCTTTCCCATGCTGAATTA
Celera SNP ID:            hCV11951414
SNP Position Transcript:  1635
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:805, None   



Context             (SEQ ID NO:3133):
TTGTACAGAATTTTTAATGACTTTTTATAATGTGGATTTCCTATTTTAAAACCATGCAGCTTCATCAATTTTTATACATATCAGAAAAGTAGAATTATAT
Y
TAATTTATACAAAATAATTTAACTAATTTAAACCAGCAGAAAAGTGCTTAGAAAGTTATTGTGTTGCCTTAGCACTTCTTTCCTCTCCAATTGTAAAAAA
Celera SNP ID:            hCV11951418
SNP Position Transcript:  1849
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:805, None   



Context             (SEQ ID NO:3134):
GACCTGGTCTCCTTCGTTCAGACGCTTTGCAAGGGCTTATCCCAACCCACCACCAACCTGGTTGCGGGCTGCCTGCAACTCAATCCTCGGACTTTTCTGC
M
TGAGCAGAACCAGGACATGCCCCCCCACCTGCCGACGGCCAGCGCTTCCTTCCCTGTACACCCCTACTCCTACCAGTCGCCTGGGCTGCCCAGTCCGCCT
Celera SNP ID:            hCV25651593
SNP Position Transcript:  819
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 197, (H,CAT)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,36)   total(A,2|C,72)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 197, (H,CAT)   (P,CCT)   



Context             (SEQ ID NO:3135):
GATCAAAAGCCCAAGAGACGCGGCCCCAAAAAGAAGAAGATGACTAAGGCTCGCCTGGAGCGTTTTAAATTGAGACGCATGAAGGCTAACGCCCGGGAGC
K
GAACCGCATGCACGGACTGAACGCGGCGCTAGACAACCTGCGCAAGGTGGTGCCTTGCTATTCTAAGACGCAGAAGCTGTCCAAAATCGAGACTCTGCGC
Celera SNP ID:            hCV27532166
SNP Position Transcript:  561
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 111, (R,CGG)   (L,CTG)      



Context             (SEQ ID NO:3136):
TGACGATCAAAAGCCCAAGAGACGCGGCCCCAAAAAGAAGAAGATGACTAAGGCTCGCCTGGAGCGTTTTAAATTGAGACGCATGAAGGCTAACGCCCGG
R
AGCGGAACCGCATGCACGGACTGAACGCGGCGCTAGACAACCTGCGCAAGGTGGTGCCTTGCTATTCTAAGACGCAGAAGCTGTCCAAAATCGAGACTCT
Celera SNP ID:            hCV27536263
SNP Position Transcript:  557
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:805, 110, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:3137):
CTCAGCTAGCGGCCCCGCCCGCGCTTAGCATCACTAACTGGGCTATATAACCTGAGCGCCCGCGCGGCCACGACACGAGGAATTCGCCCACGCAGGAGGC
R
CGGCGTCCGGAGGCCCCAGGGTTATGAGACTATCACTGCTCAGGACCTACTAACAACAAAGGAAATCGAAACATGACCAAATCGTACAGCGAGAGTGGGC
Celera SNP ID:            hCV2857990
SNP Position Transcript:  157
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,7)      total(G,3|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:805, None   



Gene Number:                 51
Celera Gene:                 hCG1777418 - 146000219973286
Celera Transcript:           hCT2303759 - 146000219973287
Public Transcript Accession: NM_138402
Celera Protein:              hCP1808448 - 197000064941089
Public Protein Accession:    NP_612411
Gene Symbol:                 LOC93349
Protein Name:                hypothetical protein BC004921
Celera Genomic Axis:         GA_x5YUV32VWPT(35926313..35959129)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:109):
GAGAAGTGCCAGAAAGCCCGGAAGCAAGGAAGGAAAGTGACCAAGCATGTGGCAAAATGGATACTGTGGATATTGCAAACAACTCTACTTTGGGAAAACC
CAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAAYGAGAACGCAGAAAAACAACCAACAAAATGATAACAGCAAAGCCGATGGC
CAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAAACCTGGAACCCACTTTACTCAGA
GTGACAGAGCTCCACAGAAAAGAGTMCGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGG
TGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGCRAAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTT
GAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGYGCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTA
ATCCTYCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGT
GTGCCGGGACGGAGGGGAGCTGTTCTGTTGYGACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTGTGGAAAGTGAGAAGTAAGTGACA
TGCAGGCACCTCTCTTTCATCCTTTAAGGGACCTTCCACCTGCCATGCGCACTCTCCAGCAGAATGTCTGCTTGTGTCTAGATGGGGAAGGAGCAGGTTC
ATCGGGTACTGGGACCCAGCAGTGTGATCCAGAGAGCAGTGGGAGACGCTGGCAGCAGGAGGTAAATGCTCTCTGTGCTCTCAGGGACACCTCCTCTGAT
ATGCTGAGGCCAGTGTTGGGGACCTTTGCCTACATACTGGTATTGTCCTTTCCTTGAAGTTTTGCAGTAGGGTCTCCTGTCCCAGGGGGTTGAGGAAAAA
AAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCTYAGGCGGATGGAGGCCTGAYGTCCCTGGAGTTGAAAGCCCAGTTT
CTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTYCCAGCAGCTCAGACAGGGAAAGGAKAGTCCCCACTCAYGGTGACACCACCTTCCTGAGGCTT
CCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGGATACTCTGGGAGGTGTTCCCCTCCCTCCCATGA
CTGAGCCCATCAGCCATTCCTGAAGGAAGACAGTGGTAGCCACAGGAACGGTGGCCATTTCCAAGCTCCCTGCCCTCTGCTCACCCATGTCCAATCTCTC
AGGACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGTCCTGGAGAGGCAGATGTGTCCTG
AGGAACAGTTGGTAAATCAGATGCAAACCCCAAGCCTTCTCCTTTCCCCTCACACGTGAGAACCATGAACAAGCGCAAGGGCAGGGGAATGTACTGAAAG
GAGCCTGCTCTTCCGCGCCACACTTCAATGGCACTGATAGAACACCACACCTTGTTTGCACAAAAAATAACTCAGCCATGACATGTCTGTTTCCAAGAGC
CACACATGTTAGAGAAACTTGAGGAAGAAGGGTGTGAGTCGTGTGCTGTGTCTCATGCATGTGGGCTCATTCTCTCCAAGCTGCTTTTCATTTACGGCCT
CTTTCTTTTGCAGAAATGTGAGTTCCTCCTCTTGAAAGTCTATTGCTGTTCTGAGAGCTCCTTTTTTGCCAAGATTCCATACTATTATTATATTAGAGAG
GCGTGTCAAGGCCTGAAGGAGCCCATGTGGTTGGATAAAATCAAGAAAAGGCTGAATGAGCACGGTTACCCCCAAGTGGAGGGGTTTGTACAAGACATGC
GCCTCATCTTCCAGAACCACAGGGCCTCTTACAAGTATAAGGATTTTGGCCAAATGGGACTTAGACTGGAGGCTGAATTTGAGAAGGATTTCAAGGAAGT
GTTTGCTATTCAGGAAACAAATGGGAACAGTTGACTGGTTTAGTGGATGCTGAAGGCCTTCAGGAAATATGCTACTGGTTGCCACTGACTTCAAACTGAG
AGCACTTGGGAAATAGCACATGCAGGGAGAGGCTTTTCTCTGAGCCTCCCTCATCTGCCCAAAAACAAATCCTCAAAAGAAATTTGATCATCATGAATCC
CATCCCCAAGAATCTCATCAACCAGGGAAGAGGAACTGAGATCACAGGGAAGGAGATTGGAGGTGATACCAGCACAGACAGACTCTCACCTCTTCTCCTG
AGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCRTTTTTTTTTTGAGATGGAGTCTCACACAGTCRCCCGGGATTGGAATGCAATG
GCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGTGCCTGCCACCATGCC
CAGCTAAYTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCRCCYGCCTTGGCCTCCCA
AAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTCACGACACACTTCTTCCC
TTCACTCTCCCACTTCTGTGGTCAACTCCCTGCAGAACTCCCAAACTGCCGTTCTTTTCGATAGCTCACGATGGTGTATGAGTGTCAATCATCTGACCCT
TCTTGGAGTCTCATATTTCGTGGAACTCCTGTGCAAACATATATTATTAAATTTTTTTTCCTCCTGTC

Protein Sequence    (SEQ ID NO:806):
MDTVDIANNSTLGKPKRKRRKKKGHGWSRMGTRTQKNNQQNDNSKADGQLVSSEKKANMNLKDLSKIRGRKRGKPGTHFTQSDRAPQKRVRSRASRKHKD
ETVDFQAPLLPVTCGGVKGILHKEKLEQGTLAKCIQTEDGKWFTPMEFEIKGGYARSKNWRLSVRCGGWPLRRLMEEGSLPNPPRIYYRNKKRILKSQNN
SSVDPCMRNLDECEVCRDGGELFCCDTCSRVFHEDCHIPPVESEK


SNP Information

Context             (SEQ ID NO:3138):
AAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGC
R
AAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCT
Celera SNP ID:            hCV25931149
SNP Position Transcript:  452
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,9)   caucasian(A,27|G,9)   total(A,56|G,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:806, 132, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3139):
CGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAAACCTGGAACCCACTTTACTCAGAGTGACAGAGCTCCACAGAAAAGAGT
M
CGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGG
Celera SNP ID:            hCV25925213
SNP Position Transcript:  326
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:806, 90, (V,GTA)   (V,GTC)   



Context             (SEQ ID NO:3140):
AGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGT
C
CCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGG
Celera SNP ID:            hCV27154590
SNP Position Transcript:  1267
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|-,6)   total(C,1|-,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3141):
ATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGA
K
AGTCCCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTC
Celera SNP ID:            hCV27488162
SNP Position Transcript:  1263
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3142):
CAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCT
Y
CAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCG
Celera SNP ID:            hCV25930383
SNP Position Transcript:  606
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,18)   caucasian(C,25|T,15)   total(C,41|T,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:806, 184, (P,CCA)   (S,TCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:806, 184, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3143):
GGCAAAATGGATACTGTGGATATTGCAAACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAA
Y
GAGAACGCAGAAAAACAACCAACAAAATGATAACAGCAAAGCCGATGGCCAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCC
Celera SNP ID:            hCV2914940
SNP Position Transcript:  151
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,38|T,2)   total(C,73|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:806, 32, (T,ACG)   (M,ATG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:806, 32, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:3144):
GCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCC
Y
GCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTCACG
Celera SNP ID:            hCV2914851
SNP Position Transcript:  2786
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3145):
AGTGCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCC
R
CCCGCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTC
Celera SNP ID:            hCV2914852
SNP Position Transcript:  2783
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3146):
CTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGTGCCTGCCACCATGCCCAGCTAA
Y
TTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCCCGCCTTGGCCTCCCAAAGTGCTG
Celera SNP ID:            hCV2914853
SNP Position Transcript:  2708
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3147):
GAAGTTTTGCAGTAGGGTCTCCTGTCCCAGGGGGTTGAGGAAAAAAAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCT
Y
AGGCGGATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGG
Celera SNP ID:            hCV29367763
SNP Position Transcript:  1156
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3148):
TCCTGTCCCAGGGGGTTGAGGAAAAAAAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCTTAGGCGGATGGAGGCCTGA
Y
GTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCA
Celera SNP ID:            hCV29367764
SNP Position Transcript:  1175
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3149):
AGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCGTTTTTTTTTTGAGATGGAGTCTCACACAGTC
R
CCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATT
Celera SNP ID:            hCV11740610
SNP Position Transcript:  2580
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3150):
AGACAGGAAGCACGGTCTTAGGCGGATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCT
Y
CCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAG
Celera SNP ID:            hCV29367765
SNP Position Transcript:  1238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3151):
GGAAGGAGATTGGAGGTGATACCAGCACAGACAGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCC
R
TTTTTTTTTTGAGATGGAGTCTCACACAGTCACCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATT
Celera SNP ID:            hCV11740611
SNP Position Transcript:  2548
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3152):
GTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCA
Y
GGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGGATACTCTGG
Celera SNP ID:            hCV27470587
SNP Position Transcript:  1276
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:806, None   



Context             (SEQ ID NO:3153):
GGCAAAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTG
Y
GCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCTCCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCA
Celera SNP ID:            hCV25923487
SNP Position Transcript:  549
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:806, 165, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3154):
AGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCGGGACGGAGGGGAGCTGTTCTGTTG
Y
GACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTGTGGAAAGTGAGAAGTAAGTGACATGCAGGCACCTCTCTTTCATCCTTTAAGGGA
Celera SNP ID:            hCV25928081
SNP Position Transcript:  731
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,40)   total(C,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:806, 225, (C,TGC)   (C,TGT)   



Gene Number:                 51
Celera Gene:                 hCG1777418 - 146000219973286
Celera Transcript:           hCT2303757 - 146000219973347
Public Transcript Accession: NM_138402
Celera Protein:              hCP1808449 - 197000064941090
Public Protein Accession:    NP_612411
Gene Symbol:                 LOC93349
Protein Name:                hypothetical protein BC004921
Celera Genomic Axis:         GA_x5YUV32VWPT(35882672..35927153)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:110):
ATGGCAGGTGGGGGCAGCGACCTGAGCACCAGGGGGCTGAACGGAGGTGTTTCACAAGTAGCAAATGAGATGAACCATCTTCCTGCACACAGCCAAAGTC
TGCAAAGGCTGTTCACGGAAGACCAGGATGTAGATGAGGGACTTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGC
AATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGKGAACTYATCACAAATAAAAYGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTC
CCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTTTTGGAAGCACTGTTCAGCGAGGTCAACATGCAGGAAT
ACCCCGATTTAATTCACATTTATAAAAGCTTCAAAAATGCAATCCAAGACAAATTGTCTTTCCAAGAAAGTGATCGAAAAGAAAGGGAAGAGAGGCCTGA
CATCAAACTAAGTCTTAAACAAGGAGAAGTGCCAGAAAGCCCGGAAGCAAGGAAGGAAAGTGACCAAGCATGTGGCAAAATGGATACTGTGGATATTGCA
AACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGTAAGAATAAATAAGAATTTACTTGCTTTTGATGTTACAAATACATTTTTAATGCCAGAGTTT
TCTTTTTGTCATTGTTACTGTTTCTGTTATTAT

Protein Sequence    (SEQ ID NO:807):
MAGGGSDLSTRGLNGGVSQVANEMNHLPAHSQSLQRLFTEDQDVDEGLVYDTVFKHFKRHKLEISNAIKKTFPFLEGLRDRELITNKMFEDSEDSCRNLV
PVQRVVYNVLSELEKTFNLSVLEALFSEVNMQEYPDLIHIYKSFKNAIQDKLSFQESDRKEREERPDIKLSLKQGEVPESPEARKESDQACGKMDTVDIA
NNSTLGKPKRKRSKNK


SNP Information

Context             (SEQ ID NO:3155):
ATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACT
Y
ATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACAT
Celera SNP ID:            hCV25927460
SNP Position Transcript:  249
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:807, 83, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:3156):
TTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCG
K
GAACTCATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGA
Celera SNP ID:            hCV25927437
SNP Position Transcript:  243
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,37|T,3)   total(G,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:807, 81, (R,CGG)   (R,CGT)   



Context             (SEQ ID NO:3157):
AAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACTCATCACAAATAAAA
Y
GTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTT
Celera SNP ID:            hCV25927874
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,3|T,35)   total(C,4|T,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:807, 88, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:807, 88, (T,ACG)   (M,ATG)      



Gene Number:                 51
Celera Gene:                 hCG1777418 - 146000219973286
Celera Transcript:           hCT1816154 - 146000219973324
Public Transcript Accession: NM_138402
Celera Protein:              hCP1713798 - 197000064941093
Public Protein Accession:    NP_612411
Gene Symbol:                 LOC93349
Protein Name:                hypothetical protein BC004921
Celera Genomic Axis:         GA_x5YUV32VWPT(35882672..35959129)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:111):
ATGGCAGGTGGGGGCAGCGACCTGAGCACCAGGGGGCTGAACGGAGGTGTTTCACAAGTAGCAAATGAGATGAACCATCTTCCTGCACACAGCCAAAGTC
TGCAAAGGCTGTTCACGGAAGACCAGGATGTAGATGAGGGACTTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGC
AATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGKGAACTYATCACAAATAAAAYGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTC
CCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTTTTGGAAGCACTGTTCAGCGAGGTCAACATGCAGGAAT
ACCCCGATTTAATTCACATTTATAAAAGCTTCAAAAATGCAATCCAAGACAAATTGTCTTTCCAAGAAAGTGATCGAAAAGAAAGGGAAGAGAGGCCTGA
CATCAAACTAAGTCTTAAACAAGGAGAAGTGCCAGAAAGCCCGGAAGCAAGGAAGGAAAGTGACCAAGCATGTGGCAAAATGGATACTGTGGATATTGCA
AACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAAYGAGAACGCAGAAAAACAACCAACAAA
ATGATAACAGCAAAGCCGATGGCCAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAA
ACCTGGAACCCACTTTACTCAGAGTGACAGAGCTCCACAGAAAAGAGTMCGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCT
CCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGCRAAGTGTATACAGACTGAGGATGGAA
AATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGYGCTGTGGCGGGTGGCCCCTACGACGGCT
GATGGAGGAAGGATCTCTACCTAATCCTYCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATG
AGAAACTTGGATGAGTGTGAGGTGTGCCGGGACGGAGGGGAGCTGTTCTGTTGYGACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTG
TGGAAAGTGAGAAGACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGTCCTGGAGAGGCA
GATGTGTCCTGAGGAACAGTTGAAATGTGAGTTCCTCCTCTTGAAAGTCTATTGCTGTTCTGAGAGCTCCTTTTTTGCCAAGATTCCATACTATTATTAT
ATTAGAGAGGCGTGTCAAGGCCTGAAGGAGCCCATGTGGTTGGATAAAATCAAGAAAAGGCTGAATGAGCACGGTTACCCCCAAGTGGAGGGGTTTGTAC
AAGACATGCGCCTCATCTTCCAGAACCACAGGGCCTCTTACAAGTATAAGGATTTTGGCCAAATGGGACTTAGACTGGAGGCTGAATTTGAGAAGGATTT
CAAGGAAGTGTTTGCTATTCAGGAAACAAATGGGAACAGTTGACTGGTTTAGTGGATGCTGAAGGCCTTCAGGAAATATGCTACTGGTTGCCACTGACTT
CAAACTGAGAGCACTTGGGAAATAGCACATGCAGGGAGAGGCTTTTCTCTGAGCCTCCCTCATCTGCCCAAAAACAAATCCTCAAAAGAAATTTGATCAT
CATGAATCCCATCCCCAAGAATCTCATCAACCAGGGAAGAGGAACTGAGATCACAGGGAAGGAGATTGGAGGTGATACCAGCACAGACAGACTCTCACCT
CTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCRTTTTTTTTTTGAGATGGAGTCTCACACAGTCRCCCGGGATTGG
AATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGTGCCTGC
CACCATGCCCAGCTAAYTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCRCCYGCCTT
GGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTCACGACACA
CTTCTTCCCTTCACTCTCCCACTTCTGTGGTCAACTCCCTGCAGAACTCCCAAACTGCCGTTCTTTTCGATAGCTCACGATGGTGTATGAGTGTCAATCA
TCTGACCCTTCTTGGAGTCTCATATTTCGTGGAACTCCTGTGCAAACATATATTATTAAATTTTTTTTCCTCCTGTC

Protein Sequence    (SEQ ID NO:808):
MAGGGSDLSTRGLNGGVSQVANEMNHLPAHSQSLQRLFTEDQDVDEGLVYDTVFKHFKRHKLEISNAIKKTFPFLEGLRDRELITNKMFEDSEDSCRNLV
PVQRVVYNVLSELEKTFNLSVLEALFSEVNMQEYPDLIHIYKSFKNAIQDKLSFQESDRKEREERPDIKLSLKQGEVPESPEARKESDQACGKMDTVDIA
NNSTLGKPKRKRRKKKGHGWSRMGTRTQKNNQQNDNSKADGQLVSSEKKANMNLKDLSKIRGRKRGKPGTHFTQSDRAPQKRVRSRASRKHKDETVDFQA
PLLPVTCGGVKGILHKEKLEQGTLAKCIQTEDGKWFTPMEFEIKGGYARSKNWRLSVRCGGWPLRRLMEEGSLPNPPRIYYRNKKRILKSQNNSSVDPCM
RNLDECEVCRDGGELFCCDTCSRVFHEDCHIPPVESEKTPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLKCEFLLLKVYCCSESSFFAKIPYYYY
IREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIFQNHRASYKYKDFGQMGLRLEAEFEKDFKEVFAIQETNGNS


SNP Information

Context             (SEQ ID NO:3158):
AAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGC
R
AAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCT
Celera SNP ID:            hCV25931149
SNP Position Transcript:  975
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,9)   caucasian(A,27|G,9)   total(A,56|G,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:808, 325, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3159):
AGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCGTTTTTTTTTTGAGATGGAGTCTCACACAGTC
R
CCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATT
Celera SNP ID:            hCV11740610
SNP Position Transcript:  2089
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:808, None   



Context             (SEQ ID NO:3160):
CGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAAACCTGGAACCCACTTTACTCAGAGTGACAGAGCTCCACAGAAAAGAGT
M
CGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGG
Celera SNP ID:            hCV25925213
SNP Position Transcript:  849
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:808, 283, (V,GTA)   (V,GTC)   



Context             (SEQ ID NO:3161):
GGAAGGAGATTGGAGGTGATACCAGCACAGACAGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCC
R
TTTTTTTTTTGAGATGGAGTCTCACACAGTCACCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATT
Celera SNP ID:            hCV11740611
SNP Position Transcript:  2057
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:808, None   



Context             (SEQ ID NO:3162):
GGCAAAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTG
Y
GCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCTCCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCA
Celera SNP ID:            hCV25923487
SNP Position Transcript:  1072
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 358, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3163):
AGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCGGGACGGAGGGGAGCTGTTCTGTTG
Y
GACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTGTGGAAAGTGAGAAGACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTC
Celera SNP ID:            hCV25928081
SNP Position Transcript:  1254
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,40)   total(C,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:808, 418, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:3164):
CAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCT
Y
CAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCG
Celera SNP ID:            hCV25930383
SNP Position Transcript:  1129
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,18)   caucasian(C,25|T,15)   total(C,41|T,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 377, (P,CCA)   (S,TCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 377, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3165):
ATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACT
Y
ATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACAT
Celera SNP ID:            hCV25927460
SNP Position Transcript:  249
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:808, 83, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:3166):
TTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCG
K
GAACTCATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGA
Celera SNP ID:            hCV25927437
SNP Position Transcript:  243
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,37|T,3)   total(G,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:808, 81, (R,CGG)   (R,CGT)   



Context             (SEQ ID NO:3167):
AAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACTCATCACAAATAAAA
Y
GTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTT
Celera SNP ID:            hCV25927874
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,3|T,35)   total(C,4|T,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 88, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 88, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:3168):
GGCAAAATGGATACTGTGGATATTGCAAACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAA
Y
GAGAACGCAGAAAAACAACCAACAAAATGATAACAGCAAAGCCGATGGCCAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCC
Celera SNP ID:            hCV2914940
SNP Position Transcript:  674
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,38|T,2)   total(C,73|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 225, (T,ACG)   (M,ATG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:808, 225, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:3169):
GCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCC
Y
GCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTCACG
Celera SNP ID:            hCV2914851
SNP Position Transcript:  2295
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:808, None   



Context             (SEQ ID NO:3170):
AGTGCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCC
R
CCCGCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTC
Celera SNP ID:            hCV2914852
SNP Position Transcript:  2292
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:808, None   



Context             (SEQ ID NO:3171):
CTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGTGCCTGCCACCATGCCCAGCTAA
Y
TTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCCCGCCTTGGCCTCCCAAAGTGCTG
Celera SNP ID:            hCV2914853
SNP Position Transcript:  2217
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:808, None   



Gene Number:                 51
Celera Gene:                 hCG1777418 - 146000219973286
Celera Transcript:           hCT2303756 - 146000219973303
Public Transcript Accession: NM_138402
Celera Protein:              hCP1808451 - 197000064941092
Public Protein Accession:    NP_612411
Gene Symbol:                 LOC93349
Protein Name:                hypothetical protein BC004921
Celera Genomic Axis:         GA_x5YUV32VWPT(35882672..35959129)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:112):
ATGGCAGGTGGGGGCAGCGACCTGAGCACCAGGGGGCTGAACGGAGGTGTTTCACAAGTAGCAAATGAGATGAACCATCTTCCTGCACACAGCCAAAGTC
TGCAAAGGCTGTTCACGGAAGACCAGGATGTAGATGAGGGACTTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGC
AATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGKGAACTYATCACAAATAAAAYGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTC
CCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTTTTGGAAGCACTGTTCAGCGAGGTCAACATGCAGGAAT
ACCCCGATTTAATTCACATTTATAAAAGCTTCAAAAATGCAATCCAAGACAAATTGTCTTTCCAAGAAAGTGATCGAAAAGAAAGGGAAGAGAGGCCTGA
CATCAAACTAAGTCTTAAACAAGGAGAAGTGCCAGAAAGCCCGGAAGCAAGGAAGGAAAGTGACCAAGCATGTGGCAAAATGGATACTGTGGATATTGCA
AACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAAYGAGAACGCAGAAAAACAACCAACAAA
ATGATAACAGCAAAGCCGATGGCCAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAA
ACCTGGAACCCACTTTACTCAGAGTGACAGAGCTCCACAGAAAAGAGTMCGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCT
CCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGCRAAGTGTATACAGACTGAGGATGGAA
AATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGYGCTGTGGCGGGTGGCCCCTACGACGGCT
GATGGAGGAAGGATCTCTACCTAATCCTYCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATG
AGAAACTTGGATGAGTGTGAGGTGTGCCGGGACGGAGGGGAGCTGTTCTGTTGYGACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTG
TGGAAAGTGAGAAGTAAGTGACATGCAGGCACCTCTCTTTCATCCTTTAAGGGACCTTCCACCTGCCATGCGCACTCTCCAGCAGAATGTCTGCTTGTGT
CTAGATGGGGAAGGAGCAGGTTCATCGGGTACTGGGACCCAGCAGTGTGATCCAGAGAGCAGTGGGAGACGCTGGCAGCAGGAGGTAAATGCTCTCTGTG
CTCTCAGGGACACCTCCTCTGATATGCTGAGGCCAGTGTTGGGGACCTTTGCCTACATACTGGTATTGTCCTTTCCTTGAAGTTTTGCAGTAGGGTCTCC
TGTCCCAGGGGGTTGAGGAAAAAAAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCTYAGGCGGATGGAGGCCTGAYGT
CCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTYCCAGCAGCTCAGACAGGGAAAGGAKAGTCCCCACTCAYG
GTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGGATACTCTGGG
AGGTGTTCCCCTCCCTCCCATGACTGAGCCCATCAGCCATTCCTGAAGGAAGACAGTGGTAGCCACAGGAACGGTGGCCATTTCCAAGCTCCCTGCCCTC
TGCTCACCCATGTCCAATCTCTCAGGACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGT
CCTGGAGAGGCAGATGTGTCCTGAGGAACAGTTGGTAAATCAGATGCAAACCCCAAGCCTTCTCCTTTCCCCTCACACGTGAGAACCATGAACAAGCGCA
AGGGCAGGGGAATGTACTGAAAGGAGCCTGCTCTTCCGCGCCACACTTCAATGGCACTGATAGAACACCACACCTTGTTTGCACAAAAAATAACTCAGCC
ATGACATGTCTGTTTCCAAGAGCCACACATGTTAGAGAAACTTGAGGAAGAAGGGTGTGAGTCGTGTGCTGTGTCTCATGCATGTGGGCTCATTCTCTCC
AAGCTGCTTTTCATTTACGGCCTCTTTCTTTTGCAGAAATGTGAGTTCCTCCTCTTGAAAGTCTATTGCTGTTCTGAGAGCTCCTTTTTTGCCAAGATTC
CATACTATTATTATATTAGAGAGGCGTGTCAAGGCCTGAAGGAGCCCATGTGGTTGGATAAAATCAAGAAAAGGCTGAATGAGCACGGTTACCCCCAAGT
GGAGGGGTTTGTACAAGACATGCGCCTCATCTTCCAGAACCACAGGGCCTCTTACAAGTATAAGGATTTTGGCCAAATGGGACTTAGACTGGAGGCTGAA
TTTGAGAAGGATTTCAAGGAAGTGTTTGCTATTCAGGAAACAAATGGGAACAGTTGACTGGTTTAGTGGATGCTGAAGGCCTTCAGGAAATATGCTACTG
GTTGCCACTGACTTCAAACTGAGAGCACTTGGGAAATAGCACATGCAGGGAGAGGCTTTTCTCTGAGCCTCCCTCATCTGCCCAAAAACAAATCCTCAAA
AGAAATTTGATCATCATGAATCCCATCCCCAAGAATCTCATCAACCAGGGAAGAGGAACTGAGATCACAGGGAAGGAGATTGGAGGTGATACCAGCACAG
ACAGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCRTTTTTTTTTTGAGATGGAGTCTCACACAG
TCRCCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGG
ATTACAGTGCCTGCCACCATGCCCAGCTAAYTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAT
GAGCCRCCYGCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCT
TTATTCACGACACACTTCTTCCCTTCACTCTCCCACTTCTGTGGTCAACTCCCTGCAGAACTCCCAAACTGCCGTTCTTTTCGATAGCTCACGATGGTGT
ATGAGTGTCAATCATCTGACCCTTCTTGGAGTCTCATATTTCGTGGAACTCCTGTGCAAACATATATTATTAAATTTTTTTTCCTCCTGTC

Protein Sequence    (SEQ ID NO:809):
MAGGGSDLSTRGLNGGVSQVANEMNHLPAHSQSLQRLFTEDQDVDEGLVYDTVFKHFKRHKLEISNAIKKTFPFLEGLRDRELITNKMFEDSEDSCRNLV
PVQRVVYNVLSELEKTFNLSVLEALFSEVNMQEYPDLIHIYKSFKNAIQDKLSFQESDRKEREERPDIKLSLKQGEVPESPEARKESDQACGKMDTVDIA
NNSTLGKPKRKRRKKKGHGWSRMGTRTQKNNQQNDNSKADGQLVSSEKKANMNLKDLSKIRGRKRGKPGTHFTQSDRAPQKRVRSRASRKHKDETVDFQA
PLLPVTCGGVKGILHKEKLEQGTLAKCIQTEDGKWFTPMEFEIKGGYARSKNWRLSVRCGGWPLRRLMEEGSLPNPPRIYYRNKKRILKSQNNSSVDPCM
RNLDECEVCRDGGELFCCDTCSRVFHEDCHIPPVESEK


SNP Information

Context             (SEQ ID NO:3172):
AAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGGAGAAATTGGAACAAGGAACCTTGGC
R
AAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCT
Celera SNP ID:            hCV25931149
SNP Position Transcript:  975
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,9)   caucasian(A,27|G,9)   total(A,56|G,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:809, 325, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3173):
CGAACATGAATCTGAAAGACCTTTCCAAGATTAGGGGGAGAAAGAGAGGCAAACCTGGAACCCACTTTACTCAGAGTGACAGAGCTCCACAGAAAAGAGT
M
CGATCAAGAGCTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTCAGGCTCCTTTACTTCCAGTGACCTGTGGTGGGGTGAAGGGAATTTTACATAAGG
Celera SNP ID:            hCV25925213
SNP Position Transcript:  849
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:809, 283, (V,GTA)   (V,GTC)   



Context             (SEQ ID NO:3174):
AGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGT
C
CCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGG
Celera SNP ID:            hCV27154590
SNP Position Transcript:  1790
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|-,6)   total(C,1|-,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3175):
ATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGA
K
AGTCCCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTC
Celera SNP ID:            hCV27488162
SNP Position Transcript:  1786
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3176):
CAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTGCGCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCT
Y
CAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCG
Celera SNP ID:            hCV25930383
SNP Position Transcript:  1129
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,18)   caucasian(C,25|T,15)   total(C,41|T,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 377, (P,CCA)   (S,TCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 377, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3177):
GCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCC
Y
GCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTCACG
Celera SNP ID:            hCV2914851
SNP Position Transcript:  3309
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3178):
GGCAAAATGGATACTGTGGATATTGCAAACAACTCTACTTTGGGAAAACCCAAGAGGAAAAGAAGAAAAAAGAAGGGGCATGGCTGGAGCAGAATGGGAA
Y
GAGAACGCAGAAAAACAACCAACAAAATGATAACAGCAAAGCCGATGGCCAGCTGGTCTCGAGTGAAAAGAAGGCGAACATGAATCTGAAAGACCTTTCC
Celera SNP ID:            hCV2914940
SNP Position Transcript:  674
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,38|T,2)   total(C,73|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 225, (T,ACG)   (M,ATG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 225, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:3179):
AAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACTCATCACAAATAAAA
Y
GTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACATTTAACCTGTCAGTT
Celera SNP ID:            hCV25927874
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,3|T,35)   total(C,4|T,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 88, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 88, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:3180):
AGTGCCTGCCACCATGCCCAGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCC
R
CCCGCCTTGGCCTCCCAAAGTGCTGGGACGTGACAGGAGTGAGCCACCACACCTGGCCACTCGCAAGACCTTTTATCTGAAAACCAGCCAAGCTTTATTC
Celera SNP ID:            hCV2914852
SNP Position Transcript:  3306
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3181):
CTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGTGCCTGCCACCATGCCCAGCTAA
Y
TTTTTGCATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGAGCCGCCCGCCTTGGCCTCCCAAAGTGCTG
Celera SNP ID:            hCV2914853
SNP Position Transcript:  3231
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3182):
GAAGTTTTGCAGTAGGGTCTCCTGTCCCAGGGGGTTGAGGAAAAAAAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCT
Y
AGGCGGATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGG
Celera SNP ID:            hCV29367763
SNP Position Transcript:  1679
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3183):
TCCTGTCCCAGGGGGTTGAGGAAAAAAAACACCAGTTGTTTATATTTTGTGCTTATTCATACAAGACAGGAAGCACGGTCTTAGGCGGATGGAGGCCTGA
Y
GTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCA
Celera SNP ID:            hCV29367764
SNP Position Transcript:  1698
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3184):
AGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCCGTTTTTTTTTTGAGATGGAGTCTCACACAGTC
R
CCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATT
Celera SNP ID:            hCV11740610
SNP Position Transcript:  3103
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3185):
AGACAGGAAGCACGGTCTTAGGCGGATGGAGGCCTGACGTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCT
Y
CCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCACGGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAG
Celera SNP ID:            hCV29367765
SNP Position Transcript:  1761
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3186):
GGAAGGAGATTGGAGGTGATACCAGCACAGACAGACTCTCACCTCTTCTCCTGAGGTCTGCTCCAGACAACATTTATTACTCACAAGACCTTTTTCCTCC
R
TTTTTTTTTTGAGATGGAGTCTCACACAGTCACCCGGGATTGGAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATT
Celera SNP ID:            hCV11740611
SNP Position Transcript:  3071
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3187):
GGCAAAGTGTATACAGACTGAGGATGGAAAATGGTTCACCCCCATGGAATTTGAAATCAAAGGAGGCTACGCAAGATCAAAGAACTGGAGGCTGAGTGTG
Y
GCTGTGGCGGGTGGCCCCTACGACGGCTGATGGAGGAAGGATCTCTACCTAATCCTCCAAGAATATATTACAGGAACAAAAAGAGAATACTGAAGTCTCA
Celera SNP ID:            hCV25923487
SNP Position Transcript:  1072
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:809, 358, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3188):
GTCCCTGGAGTTGAAAGCCCAGTTTCTGACACACAGGCCTGGCAGGCAGGACTCCTTGTGCTCCCAGCAGCTCAGACAGGGAAAGGATAGTCCCCACTCA
Y
GGTGACACCACCTTCCTGAGGCTTCCCTCCTGCTGCTACCACTGATGCGAGGGAAAGGCCAGTGGCTGGAGACCCCATGTGCAGTTCTTGGATACTCTGG
Celera SNP ID:            hCV27470587
SNP Position Transcript:  1799
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:809, None   



Context             (SEQ ID NO:3189):
AGAGAATACTGAAGTCTCAAAACAATAGCTCAGTTGACCCTTGTATGAGAAACTTGGATGAGTGTGAGGTGTGCCGGGACGGAGGGGAGCTGTTCTGTTG
Y
GACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTGTGGAAAGTGAGAAGTAAGTGACATGCAGGCACCTCTCTTTCATCCTTTAAGGGA
Celera SNP ID:            hCV25928081
SNP Position Transcript:  1254
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,40)   total(C,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:809, 418, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:3190):
ATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCGGGAACT
Y
ATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGAAGACAT
Celera SNP ID:            hCV25927460
SNP Position Transcript:  249
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:809, 83, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:3191):
TTGTCTATGACACTGTATTCAAGCACTTCAAAAGACATAAGCTGGAGATATCAAATGCAATAAAAAAGACATTTCCATTCCTTGAGGGCCTCCGCGATCG
K
GAACTCATCACAAATAAAATGTTTGAAGATTCTGAAGATTCTTGTAGAAACCTGGTCCCTGTACAAAGAGTGGTGTACAATGTTCTCAGTGAACTGGAGA
Celera SNP ID:            hCV25927437
SNP Position Transcript:  243
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,37|T,3)   total(G,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:809, 81, (R,CGG)   (R,CGT)   



Gene Number:                 52
Celera Gene:                 hCG1777562 - 79000075446110
Celera Transcript:           hCT2300782 - 79000075446127
Public Transcript Accession: NM_174975
Celera Protein:              hCP1798572 - 197000064931213
Public Protein Accession:    NP_777635
Gene Symbol:                 SEC14L3
Protein Name:                SEC14-like 3 (S. cerevisiae);TAP2
Celera Genomic Axis:         GA_x5YUV32VU5C(8921917..8933853)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:113):
ATGAGCGGCCGAGTTGGAGACCTGAGCCCCAAACAGGCAGAGACCCTGGCCAAGTTCCGAGAAAACGTCCAGGATGTGCTTCCTGCCCTGCCCAACCCTG
ATGATTATTTCCTTCTACGCTGGCTCCGAGGTGAGGGCAGAGCTCGGAATTTTGACTTGCAGAAGTCGGAGGCTTTGCTCCGCAAGGGCACTGGGAGCCC
AGTGGGATCTTACCACTCATTTCCCTTTCAGTACATGGAGTTCCGGAAGACCATGGATATTGACCATATCCTTGATTGGCAGCCCCCAGAGGTGATCCAG
AAGTACATGCCTGGGGGCCTGTGTGGCTATGACCGTGATGGCTGCCCCGTGTGGTATGACATCAYTGGGCCACTTGATCCCAAGGGGTTGCTCTTCTCAG
TCACCAAGCAGGACCTGCTCAAGACCAAGATGAGGGACTGTGAGCGCATCCTGCATGAGTGTGACCTGCAGACAGAGAGGCTAGGGAAGAAGATTGAGAC
CATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGTTCTTTGGCCTCCTTGAAGAGAAT
TACCCAGAGACCCTGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTGGGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTCRCA
GGAAAATTATTGTRTTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTCCTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGACCC
AGATGGGAACCCCAAATGTTTAACCAAGATTAACTATGGCGGGGAGATCCCCAAGTCCATGTACGTGCGGGACCAGGTGAAGACTCAGTACGAGCACTCG
GTGCAGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGCTGCGTTCTCAGGTGGCAGTTCTCATCTGAYGGTGCGGACATCG
GCTTYGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGAKGTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCC
CGAGGATGGGAACCTCACCTGCTCAGAGGCCGGCGTCTGTGTGAGACAATGGGATGTAATGACCATTGTTCTCGATGCCAGTAAAGCCATGCCTGGGCAC
ATGCCAAGAGGAGATGTCCTAYGCTTCGACAACACCTATAGCTTTGTCCACGCCAAGAAGGTCAGCTTCACAGTGGAGGTCCTGCTCCCTGACGAGGGCA
TGCAGAAATATGATAAGGAGCTCACCCCTGTC

Protein Sequence    (SEQ ID NO:810):
MSGRVGDLSPKQAETLAKFRENVQDVLPALPNPDDYFLLRWLRGEGRARNFDLQKSEALLRKGTGSPVGSYHSFPFQYMEFRKTMDIDHILDWQPPEVIQ
KYMPGGLCGYDRDGCPVWYDIIGPLDPKGLLFSVTKQDLLKTKMRDCERILHECDLQTERLGKKIETIVMIFDCEGLGLKHFWKPLVEVYQEFFGLLEEN
YPETLKFMLIVKATKLFPVGYNLMKPFLSEDTRRKIIVLGNNWKEGLLKLISPEELPAQFGGTLTDPDGNPKCLTKINYGGEIPKSMYVRDQVKTQYEHS
VQINRGSSHQVEYEILFPGCVLRWQFSSDGADIGFGVFLKTKMGERQRAGEMTDVLPSQRYNAHMVPEDGNLTCSEAGVCVRQWDVMTIVLDASKAMPGH
MPRGDVLRFDNTYSFVHAKKVSFTVEVLLPDEGMQKYDKELTPV


SNP Information

Context             (SEQ ID NO:3192):
TGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTGGGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGT
R
TTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTCCTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGACCCAGATGGGAACCCCA
Celera SNP ID:            hCV25927347
SNP Position Transcript:  714
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:810, 238, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:810, 238, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:3193):
TTCTCAGGTGGCAGTTCTCATCTGATGGTGCGGACATCGGCTTCGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGA
K
GTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGGATGGGAACCTCACCTGCTCAGAGGCCGGCGTCTGTGTGAGACAATGGGATGTAATGA
Celera SNP ID:            hCV2628201
SNP Position Transcript:  1062
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,7)   caucasian(G,24|T,16)   total(G,55|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 354, (E,GAG)   (D,GAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|T,6)      total(G,3|T,6) ;no_pop(T,-|G,-)   JBIC-allele(T,135|G,1360)   total(G,1360|T,135) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 354, (E,GAG)   (D,GAT)      



Context             (SEQ ID NO:3194):
AGTACGAGCACTCGGTGCAGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGCTGCGTTCTCAGGTGGCAGTTCTCATCTGA
Y
GGTGCGGACATCGGCTTCGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGATGTTCTACCCAGCCAGCGCTATAACG
Celera SNP ID:            hCV2628202
SNP Position Transcript:  987
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,24|T,16)   total(C,55|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:810, 329, (D,GAC)   (D,GAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:810, 329, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3195):
AGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGCTGCGTTCTCAGGTGGCAGTTCTCATCTGATGGTGCGGACATCGGCTT
Y
GGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGATGTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGG
Celera SNP ID:            hCV25930138
SNP Position Transcript:  1005
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:810, 335, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:3196):
AATTACCCAGAGACCCTGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTGGGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTC
R
CAGGAAAATTATTGTGTTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTCCTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGAC
Celera SNP ID:            hCV15877880
SNP Position Transcript:  698
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,24)   caucasian(A,7|G,33)   total(A,9|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 233, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,6|G,32)   total(A,11|G,63)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 233, (H,CAC)   (R,CGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 233, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:3197):
CATATCCTTGATTGGCAGCCCCCAGAGGTGATCCAGAAGTACATGCCTGGGGGCCTGTGTGGCTATGACCGTGATGGCTGCCCCGTGTGGTATGACATCA
Y
TGGGCCACTTGATCCCAAGGGGTTGCTCTTCTCAGTCACCAAGCAGGACCTGCTCAAGACCAAGATGAGGGACTGTGAGCGCATCCTGCATGAGTGTGAC
Celera SNP ID:            hCV2628220
SNP Position Transcript:  365
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,5)      total(C,2|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 122, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:3198):
CTCAGAGGCCGGCGTCTGTGTGAGACAATGGGATGTAATGACCATTGTTCTCGATGCCAGTAAAGCCATGCCTGGGCACATGCCAAGAGGAGATGTCCTA
Y
GCTTCGACAACACCTATAGCTTTGTCCACGCCAAGAAGGTCAGCTTCACAGTGGAGGTCCTGCTCCCTGACGAGGGCATGCAGAAATATGATAAGGAGCT
Celera SNP ID:            hCV25925571
SNP Position Transcript:  1222
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:810, 408, (R,CGC)   (C,TGC)   



Gene Number:                 52
Celera Gene:                 hCG1777562 - 79000075446110
Celera Transcript:           hCT1816305 - 79000075446111
Public Transcript Accession: NM_174975
Celera Protein:              hCP1711503 - 197000064931212
Public Protein Accession:    NP_777635
Gene Symbol:                 SEC14L3
Protein Name:                SEC14-like 3 (S. cerevisiae);TAP2
Celera Genomic Axis:         GA_x5YUV32VU5C(8921914..8933853)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:114):
ATGAGCGGCCGAGTTGGAGACCTGAGCCCCAAACAGGCAGAGACCCTGGCCAAGTTCCGAGAAAACGTCCAGGATGTGCTTCCTGCCCTGCCCAACCCTG
ATGATTATTTCCTTCTACGCTGGCTCCGAGCTCGGAATTTTGACTTGCAGAAGTCGGAGGCTTTGCTCCGCAAGTACATGGAGTTCCGGAAGACCATGGA
TATTGACCATATCCTTGATTGGCAGCCCCCAGAGGTGATCCAGAAGTACATGCCTGGGGGCCTGTGTGGCTATGACCGTGATGGCTGCCCCGTGTGGTAT
GACATCAYTGGGCCACTTGATCCCAAGGGGTTGCTCTTCTCAGTCACCAAGCAGGACCTGCTCAAGACCAAGATGAGGGACTGTGAGCGCATCCTGCATG
AGTGTGACCTGCAGACAGAGAGGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCT
GGTAGAAGTGTACCAGGAGTTCTTTGGCCTCCTTGAAGAGAATTACCCAGAGACCCTGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTG
GGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTCRCAGGAAAATTATTGTRTTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTC
CTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGACCCAGATGGGAACCCCAAATGTTTAACCAAGATTAACTATGGCGGGGAGATCCCCAAGTC
CATGTACGTGCGGGACCAGGTGAAGACTCAGTACGAGCACTCGGTGCAGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGC
TGCGTTCTCAGGTGGCAGTTCTCATCTGAYGGTGCGGACATCGGCTTYGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGA
CAGAKGTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGGATGGGAACCTCACCTGCTCAGAGGCCGGCGTCTATGTCCTAYGCTTCGACAA
CACCTATAGCTTTGTCCACGCCAAGAAGGTCAGCTTCACAGTGGAGGTCCTGCTCCCTGACGAGGGCATGCAGAAATATGATAAGGAGCTCACCCCTGTC
TAG

Protein Sequence    (SEQ ID NO:811):
MSGRVGDLSPKQAETLAKFRENVQDVLPALPNPDDYFLLRWLRARNFDLQKSEALLRKYMEFRKTMDIDHILDWQPPEVIQKYMPGGLCGYDRDGCPVWY
DIIGPLDPKGLLFSVTKQDLLKTKMRDCERILHECDLQTERLGKKIETIVMIFDCEGLGLKHFWKPLVEVYQEFFGLLEENYPETLKFMLIVKATKLFPV
GYNLMKPFLSEDTRRKIIVLGNNWKEGLLKLISPEELPAQFGGTLTDPDGNPKCLTKINYGGEIPKSMYVRDQVKTQYEHSVQINRGSSHQVEYEILFPG
CVLRWQFSSDGADIGFGVFLKTKMGERQRAGEMTDVLPSQRYNAHMVPEDGNLTCSEAGVYVLRFDNTYSFVHAKKVSFTVEVLLPDEGMQKYDKELTPV


SNP Information

Context             (SEQ ID NO:3199):
TGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTGGGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGT
R
TTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTCCTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGACCCAGATGGGAACCCCA
Celera SNP ID:            hCV25927347
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:811, 219, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:811, 219, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:3200):
TTCTCAGGTGGCAGTTCTCATCTGATGGTGCGGACATCGGCTTCGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGA
K
GTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGGATGGGAACCTCACCTGCTCAGAGGCCGGCGTCTATGTCCTACGCTTCGACAACACCT
Celera SNP ID:            hCV2628201
SNP Position Transcript:  1005
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,7)   caucasian(G,24|T,16)   total(G,55|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 335, (E,GAG)   (D,GAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|T,6)      total(G,3|T,6) ;no_pop(T,-|G,-)   JBIC-allele(T,135|G,1360)   total(G,1360|T,135) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 335, (E,GAG)   (D,GAT)      



Context             (SEQ ID NO:3201):
AGTACGAGCACTCGGTGCAGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGCTGCGTTCTCAGGTGGCAGTTCTCATCTGA
Y
GGTGCGGACATCGGCTTCGGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGATGTTCTACCCAGCCAGCGCTATAACG
Celera SNP ID:            hCV2628202
SNP Position Transcript:  930
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,24|T,16)   total(C,55|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:811, 310, (D,GAC)   (D,GAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:811, 310, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3202):
AGATCAACCGCGGCTCATCACACCAAGTGGAATACGAGATCCTATTTCCAGGCTGCGTTCTCAGGTGGCAGTTCTCATCTGATGGTGCGGACATCGGCTT
Y
GGAGTTTTCCTGAAGACCAAGATGGGGGAGCGACAGCGGGCAGGGGAGATGACAGATGTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGG
Celera SNP ID:            hCV25930138
SNP Position Transcript:  948
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:811, 316, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:3203):
AATTACCCAGAGACCCTGAAGTTCATGCTCATCGTGAAAGCTACCAAACTGTTCCCTGTGGGCTACAACCTCATGAAGCCATTCCTGAGTGAGGACACTC
R
CAGGAAAATTATTGTGTTGGGAAATAACTGGAAGGAAGGTTTGCTGAAACTCATCAGTCCTGAGGAACTGCCTGCCCAGTTTGGGGGCACCCTGACTGAC
Celera SNP ID:            hCV15877880
SNP Position Transcript:  641
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,24)   caucasian(A,7|G,33)   total(A,9|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 214, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,6|G,32)   total(A,11|G,63)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 214, (H,CAC)   (R,CGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 214, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:3204):
CATATCCTTGATTGGCAGCCCCCAGAGGTGATCCAGAAGTACATGCCTGGGGGCCTGTGTGGCTATGACCGTGATGGCTGCCCCGTGTGGTATGACATCA
Y
TGGGCCACTTGATCCCAAGGGGTTGCTCTTCTCAGTCACCAAGCAGGACCTGCTCAAGACCAAGATGAGGGACTGTGAGCGCATCCTGCATGAGTGTGAC
Celera SNP ID:            hCV2628220
SNP Position Transcript:  308
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,5)      total(C,2|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 103, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:3205):
AGGGGAGATGACAGATGTTCTACCCAGCCAGCGCTATAACGCCCACATGGTGCCCGAGGATGGGAACCTCACCTGCTCAGAGGCCGGCGTCTATGTCCTA
Y
GCTTCGACAACACCTATAGCTTTGTCCACGCCAAGAAGGTCAGCTTCACAGTGGAGGTCCTGCTCCCTGACGAGGGCATGCAGAAATATGATAAGGAGCT
Celera SNP ID:            hCV25925571
SNP Position Transcript:  1090
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:811, 364, (R,CGC)   (C,TGC)   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT2318235 - 104000117326711
Public Transcript Accession: 
Celera Protein:              hCP1784633 - 197000064917274
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11211170..11220701)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:115):
CCCCAGCTGTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGC
GCCGGCCCMGAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCT
TGGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGG
CYCTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCC
CAGGAGCGCAGCAGTTCGRAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCSGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGMG
CTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGCG
CTCTAGCCTCCGCTTCTCTATCTCCTACAGGCGGCTGGACCGCCCTACCAGGATCCGCTTCTCAGACTCCAATGGCAGTGTCCTGTTTGAGCACCCTGCA
GCCCCCACCCAAGATGGCCTGGTCTGTGGGGTGTGGCGGGCAGTGCCTCGGTTGTCTCTGCGGCTCCTTAGGGCAGAACAGCTGCATGTGGCACTTGTGA
CACTCACTCACCCTTCAGGGGAGGTCTGGGGGCCTCTCATCCGGCACCGGGCCCTGGCTGCAGAGACCTTCAGTGCCATCCTGACTCTAGAAGGCCCCCC
ACAGCAGGGCGTAGGGGGCATCACCCTGCTCACTCTCAGTGACACAGAGGACTCCTTGCATTTTTTGCTGCTCTTCCGAGGGCTGCTGGAACCCAGGAGT
GGGGGACTAACCCAGGTTCCCTTGAGGCTCCAGATTCTACACCAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGAACCAGGCTTTG
CTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCAT
CAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCA
GCCAGCCTCACGCTGCTAGGAAATGGCTCCCTGATCTATCAGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATG
AGCTCTTCCTGAAYGTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACAC
GCTGCCCGTGCCCCTAGCAGGAGCCCTGGTGCTACCCCCTGTGAAGAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGGATACCCACTGTCACCTGCAC
TATGAAGTGCTGCTGGCTGGGCTTGGTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGA
AGGGATTCTATGGCTCAGAGGCCCARGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGMTGATCACCAC
CAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGCCGAGGGGGTG
CGGGCGCTGGGGGCTCCGGATACAGCCTCTGCTGCGCCGCCTGTGGTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACCTGGTGGTCCTGGGCGGCCCC
GAGACCCCAACACATGCTTCTTCGAGGGGCAGCAGCGCCCCCACGGGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGCTCACTCTGCACCTGCCAGAG
ACGAACGGTGATCTGTGACCCGGTGGTGTGCCCACCGCCCAGCTGCCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCCCTGTTTGCCCTGAGAAACAA
GATGTCAGAGACTTGCCAGGGCTGCCAAGGAGCCGGGACCCAGGAGAGGGCTGCTATTTTGATGGTGACCGGAGCTGGCGGGCAGCGGGTACGCGGTGGC
ACCCCGTTGTGCCCCCCTTTGGCTTAATTAAGTGTGCTGTCTGCACCTGCAAGGGGGGCACTGGAGAGGTGCACTGTGAGAAGGTGCAGTGTCCCCGGCT
GGCCTGTGCCCAGCCTGTGCGTGTCAACCCCACCGACTGCTGCAAACAGTGTCCAGTGGGGTCGGGGGCCCACCCCCAGCTGGGGGACCCCATGCAGGCT
GATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCCKTTTGGAGAGATGAGCTGTATCACCT
GCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGGAGAGTCGATGCTGTTCCCGCTGCAC
GGCCCACCGGCGGCCAGCCCCAGAGACCAGAACTGATCCAGAGCTGGAGAAAGAAGCCGAAGGCTCTTAGGGAGCAGCCAGAGGGCCAAGTGACCAAGAG
GATGGGGCCTGAGCTGGGGAAGGGGTGGCATCGAGGACCTTCTTGCATTCTCCTGTGGGAAGCCCAGTGCCTTTGCTCCTCTGTCCTGCCTCTACTCCCA
CCCCCACTACCTCTGGGAACCACAGCTCCACAAGGGGGAGAGGCAGCTGGGCCAGACCGAGGTCACAGCCACTCCAAGTCCTGCCCTGCCACCCTCGGCC
TCTGTCCTGGAAGCCCCACCCCTTTCCTCCTGTACATAATGTCACTGGCTTGTTGGGATTTTTAATTTATCTTCACTCAGCACCAAGGGCCCCCGACACT
CCACTCCTGCTGCCCCTGAGCTGAGCAGAGTCATTATTGGAGAGTTTTGTATTTATTAAAACATTTCTTTTTCAGTC

Protein Sequence    (SEQ ID NO:812):
MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYALDETWHPDLGEPFGVMRCVLCACEAPQWGRRTRGPGRVSCK
NIKPECPTPACGQPRQLPGHCCQTCPQERSSSERQPSGLSFEYPRDPEHRSYSDRGEPGAEERARGDGHTDFVALLTGPRSQAVARARVSLLRSSLRFSI
SYRRLDRPTRIRFSDSNGSVLFEHPAAPTQDGLVCGVWRAVPRLSLRLLRAEQLHVALVTLTHPSGEVWGPLIRHRALAAETFSAILTLEGPPQQGVGGI
TLLTLSDTEDSLHFLLLFRGLLEPRSGGLTQVPLRLQILHQGQLLRELQANVSAQEPGFAEVLPNLTVQEMDWLVLGELQMALEWAGRPGLRISGHIAAR
KSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQAVGICPGLGARGAHMLLQNELFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAG
ALVLPPVKSQAAGHAWLSLDTHCHLHYEVLLAGLGGSEQGTVTAHLLGPPGTPGPRRLLKGFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGE
LRGQVHIANQCEVGGLRLEAAGAEGVRALGAPDTASAAPPVVPGLPALAPAKPGGPGRPRDPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDP
VVCPPPSCPHPVQAPDQCCPVCPEKQDVRDLPGLPRSRDPGEGCYFDGDRSWRAAGTRWHPVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVR
VNPTDCCKQCPVGSGAHPQLGDPMQADGPRGCRFAGQWFPESQSWHPSVPPFGEMSCITCRCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAP
ETRTDPELEKEAEGS


SNP Information

Context             (SEQ ID NO:3206):
TGCTAGGAAATGGCTCCCTGATCTATCAGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  1414
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 464, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3207):
CCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCC
K
TTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGG
Celera SNP ID:            hCV16184729
SNP Position Transcript:  2575
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,29)   caucasian(G,1|T,29)   total(G,8|T,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 851, (P,CCG)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,248|T,1239)   total(G,248|T,1239) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 851, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3208):
CCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGG
M
GCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGC
Celera SNP ID:            hCV25928057
SNP Position Transcript:  499
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,8|C,32)   total(A,13|C,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 159, (G,GGA)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,30)   caucasian(A,8|C,30)   total(A,14|C,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 159, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:3209):
CGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCC
S
GAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGT
Celera SNP ID:            hCV265628
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(G,36)   total(C,4|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 147, (P,CCC)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 147, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;JBIC-allele(C,245|G,1222)   total(G,1222|C,245)   no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 147, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:3210):
AGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  1181
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:812, 387, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3211):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  1790
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:812, 590, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3212):
CAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCG
R
AGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGG
Celera SNP ID:            hCV25930280
SNP Position Transcript:  419
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:812, 133, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:3213):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  1726
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 568, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3214):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  109
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:812, 29, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3215):
GGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGC
Y
CTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCA
Celera SNP ID:            hCV25923420
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,37|T,1)   total(C,64|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:812, 94, (P,CCT)   (S,TCT)   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT1817110 - 104000117326664
Public Transcript Accession: 
Celera Protein:              hCP1700778 - 197000064917272
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11211170..11221373)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:116):
CCTGGGCTGGACACCGACCTCCTGGTCCAGCCGCCCTGTGGCCGCCAGCAGCGGGGGGCTCCGGGCCCGCCTCTCCTCCCCCTCTTCGCGCCCCCTGGTC
CCTCCCCTCCCCCTCCCCCGCTCCCCCTTCCCCTCCCGCCCCTCCCTCCTCCCCTGCCCGGCCCGCCCGCGCTCCTCCCGGCCGCTCCTCCCGCCCCGCC
CGGGCCGGCGCCGACTCTGCGGCCGCCCGACGAGCCCCTCGCGGCACTGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCTCCCGCCGCACCGCCCCCGGCC
CGGCCCTCCGCCCTCCGCACTCCCGCCTCCCTCCCTCCGCCCGCTCCCGCGCCCTCCTCCCTCCCTCCTCCCCAGCTGTCCCGTTCGCGTCATGCCGAGC
CTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCCMGAGCCCCCCGTGCTGCCCATCC
GTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGACGTGGCACCCGGACCTAGGGGA
GCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGCYCTGGCAGGGTCAGCTGCAAGAACATCAAA
CCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGRAGCGGCAGCCGA
GCGGCCTGTCCTTCGAGTATCCGCGGGACCCSGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGMGCTGAGGAGCGGGCCCGTGGTGACGGCCACAC
GGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGCGCTCTAGCCTCCGCTTCTCTATCTCCTACAGG
CGGCTGGACCGCCCTACCAGGATCCGCTTCTCAGACTCCAATGGCAGTGTCCTGTTTGAGCACCCTGCAGCCCCCACCCAAGATGGCCTGGTCTGTGGGG
TGTGGCGGGCAGTGCCTCGGTTGTCTCTGCGGCTCCTTAGGGCAGAACAGCTGCATGTGGCACTTGTGACACTCACTCACCCTTCAGGGGAGGTCTGGGG
GCCTCTCATCCGGCACCGGGCCCTGGCTGCAGAGACCTTCAGTGCCATCCTGACTCTAGAAGGCCCCCCACAGCAGGGCGTAGGGGGCATCACCCTGCTC
ACTCTCAGTGACACAGAGGACTCCTTGCATTTTTTGCTGCTCTTCCGAGGGCTGCTGGAACCCAGGAGTGGGGGACTAACCCAGGTTCCCTTGAGGCTCC
AGATTCTACACCAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGA
GATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGC
GACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCAGCCAGCCTCACGCTGCTAGGAAATGGCTCCC
TGATCTATCAGGTGCAAGTGGTAGGGACAAGCAGTGAGGTGGTGGCCATGACACTGGAGACCAAGCCTCAGCGGAGGGATCAGCGCACTGTCCTGTGCCA
CATGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTG
AAYGTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGC
CCCTAGCAGGAGCCCTGGTGCTACCCCCTGTGAAGAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGGATACCCACTGTCACCTGCACTATGAAGTGCT
GCTGGCTGGGCTTGGTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTAT
GGCTCAGAGGCCCARGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGMTGATCACCACCAAGGGTAGCC
CCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGCCGAGGGGGTGCGGGCGCTGGG
GGCTCCGGATACAGCCTCTGCTGCGCCGCCTGTGGTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACCTGGTGGTCCTGGGCGGCCCCGAGACCCCAAC
ACATGCTTCTTCGAGGGGCAGCAGCGCCCCCACGGGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGCTCACTCTGCACCTGCCAGAGACGAACGGTGA
TCTGTGACCCGGTGGTGTGCCCACCGCCCAGCTGCCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCCCTGTTTGCCCTGAGAAACAAGATGTCAGAGA
CTTGCCAGGGCTGCCAAGGAGCCGGGACCCAGGAGAGGGCTGCTATTTTGATGGTGACCGGAGCTGGCGGGCAGCGGGTACGCGGTGGCACCCCGTTGTG
CCCCCCTTTGGCTTAATTAAGTGTGCTGTCTGCACCTGCAAGGGGGGCACTGGAGAGGTGCACTGTGAGAAGGTGCAGTGTCCCCGGCTGGCCTGTGCCC
AGCCTGTGCGTGTCAACCCCACCGACTGCTGCAAACAGTGTCCAGTGGGGTCGGGGGCCCACCCCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCG
GGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCCKTTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGG
GCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGGAGAGTCGATGCTGTTCCCGCTGCACGGCCCACCGGC
GGCCAGCCCCAGAGACCAGAACTGATCCAGAGCTGGAGAAAGAAGCCGAAGGCTCTTAGGGAGCAGCCAGAGGGCCAAGTGACCAAGAGGATGGGGCCTG
AGCTGGGGAAGGGGTGGCATCGAGGACCTTCTTGCATTCTCCTGTGGGAAGCCCAGTGCCTTTGCTCCTCTGTCCTGCCTCTACTCCCACCCCCACTACC
TCTGGGAACCACAGCTCCACAAGGGGGAGAGGCAGCTGGGCCAGACCGAGGTCACAGCCACTCCAAGTCCTGCCCTGCCACCCTCGGCCTCTGTCCTGGA
AGCCCCACCCCTTTCCTCCTGTACATAATGTCACTGGCTTGTTGGGATTTTTAATTTATCTTCACTCAGCACCAAGGGCCCCCGACACTCCACTCCTGCT
GCCCCTGAGCTGAGCAGAGTCATTATTGGAGAGTTTTGTATTTATTAAAACATTTCTTTTTCAGTC

Protein Sequence    (SEQ ID NO:813):
MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYALDETWHPDLGEPFGVMRCVLCACEAPQWGRRTRGPGRVSCK
NIKPECPTPACGQPRQLPGHCCQTCPQERSSSERQPSGLSFEYPRDPEHRSYSDRGEPGAEERARGDGHTDFVALLTGPRSQAVARARVSLLRSSLRFSI
SYRRLDRPTRIRFSDSNGSVLFEHPAAPTQDGLVCGVWRAVPRLSLRLLRAEQLHVALVTLTHPSGEVWGPLIRHRALAAETFSAILTLEGPPQQGVGGI
TLLTLSDTEDSLHFLLLFRGLLEPRSGGLTQVPLRLQILHQGQLLRELQANVSAQEPGFAEVLPNLTVQEMDWLVLGELQMALEWAGRPGLRISGHIAAR
KSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQVQVVGTSSEVVAMTLETKPQRRDQRTVLCHMAGLQPGGHTAVGICPGLGARGAHMLLQNE
LFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAGALVLPPVKSQAAGHAWLSLDTHCHLHYEVLLAGLGGSEQGTVTAHLLGPPGTPGPRRLLK
GFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGELRGQVHIANQCEVGGLRLEAAGAEGVRALGAPDTASAAPPVVPGLPALAPAKPGGPGRPR
DPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDPVVCPPPSCPHPVQAPDQCCPVCPEKQDVRDLPGLPRSRDPGEGCYFDGDRSWRAAGTRWH
PVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVRVNPTDCCKQCPVGSGAHPQLGDPMQADGPRGCRFAGQWFPESQSWHPSVPPFGEMSCITC
RCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAPETRTDPELEKEAEGS


SNP Information

Context             (SEQ ID NO:3216):
TGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  1903
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 504, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3217):
CCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCC
K
TTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGG
Celera SNP ID:            hCV16184729
SNP Position Transcript:  3064
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,29)   caucasian(G,1|T,29)   total(G,8|T,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 891, (P,CCG)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,248|T,1239)   total(G,248|T,1239) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 891, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3218):
CCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGG
M
GCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGC
Celera SNP ID:            hCV25928057
SNP Position Transcript:  868
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,8|C,32)   total(A,13|C,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 159, (G,GGA)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,30)   caucasian(A,8|C,30)   total(A,14|C,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 159, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:3219):
CGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCC
S
GAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGT
Celera SNP ID:            hCV265628
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(G,36)   total(C,4|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 147, (P,CCC)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 147, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;JBIC-allele(C,245|G,1222)   total(G,1222|C,245)   no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 147, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:3220):
AGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  1550
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:813, 387, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3221):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  2279
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:813, 630, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3222):
CAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCG
R
AGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGG
Celera SNP ID:            hCV25930280
SNP Position Transcript:  788
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:813, 133, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:3223):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 608, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3224):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  478
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:813, 29, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3225):
GGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGC
Y
CTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCA
Celera SNP ID:            hCV25923420
SNP Position Transcript:  671
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,37|T,1)   total(C,64|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:813, 94, (P,CCT)   (S,TCT)   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT2318243 - 104000117326737
Public Transcript Accession: 
Celera Protein:              hCP1784634 - 197000064917275
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11211170..11220701)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:117):
CCCCAGCTGTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGC
GCCGGCCCMGAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCT
TGGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGG
CYCTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCC
CAGGAGCGCAGCAGTTCGRAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCSGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGMG
CTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGCG
CTCTAGCCTCCGCTTCTCTATCTCCTACAGGCGGCTGGACCGCCCTACCAGGATCCGCTTCTCAGACTCCAATGGCAGTGTCCTGTTTGAGCACCCTGCA
GCCCCCACCCAAGATGGCCTGGTCTGTGGGGTGTGGCGGGCAGTGCCTCGGTTGTCTCTGCGGCTCCTTAGGGCAGAACAGCTGCATGTGGCACTTGTGA
CACTCACTCACCCTTCAGGGGAGGTCTGGGGGCCTCTCATCCGGCACCGGGCCCTGGCTGCAGAGACCTTCAGTGCCATCCTGACTCTAGAAGGCCCCCC
ACAGCAGGGCGTAGGGGGCATCACCCTGCTCACTCTCAGTGACACAGAGGACTCCTTGCATTTTTTGCTGCTCTTCCGAGGGCTGCTGGAACCCAGGAGT
GGGGATTCTACACCAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAG
GAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCT
GCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCAGCCAGCCTCACGCTGCTAGGAAATGGCTC
CCTGATCTATCAGGTGCAAGTGGTAGGGACAAGCAGTGAGGTGGTGGCCATGACACTGGAGACCAAGCCTCAGCGGAGGGATCAGCGCACTGTCCTGTGC
CACATGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCC
TGAAYGTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGT
GCCCCTAGCAGGAGCCCTGGTGCTACCCCCTGTGAAGAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGGATACCCACTGTCACCTGCACTATGAAGTG
CTGCTGGCTGGGCTTGGTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCT
ATGGCTCAGAGGCCCARGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGMTGATCACCACCAAGGGTAG
CCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGCCGAGGGGGTGCGGGCGCTG
GGGGCTCCGGATACAGCCTCTGCTGCGCCGCCTGTGGTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACCTGGTGGTCCTGGGCGGCCCCGAGACCCCA
ACACATGCTTCTTCGAGGGGCAGCAGCGCCCCCACGGGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGCTCACTCTGCACCTGCCAGAGACGAACGGT
GATCTGTGACCCGGTGGTGTGCCCACCGCCCAGCTGCCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCCCTGTTTGCCCTGAGAAACAAGATGTCAGA
GACTTGCCAGGGCTGCCAAGGAGCCGGGACCCAGGAGAGGGCTGCTATTTTGATGGTGACCGGAGCTGGCGGGCAGCGGGTACGCGGTGGCACCCCGTTG
TGCCCCCCTTTGGCTTAATTAAGTGTGCTGTCTGCACCTGCAAGGGGGGCACTGGAGAGGTGCACTGTGAGAAGGTGCAGTGTCCCCGGCTGGCCTGTGC
CCAGCCTGTGCGTGTCAACCCCACCGACTGCTGCAAACAGTGTCCAGTGGGGTCGGGGGCCCACCCCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCC
CGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCCKTTTGGAGAGATGAGCTGTATCACCTGCAGATGTG
GGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGGAGAGTCGATGCTGTTCCCGCTGCACGGCCCACCG
GCGGCCAGCCCCAGAGACCAGAACTGATCCAGAGCTGGAGAAAGAAGCCGAAGGCTCTTAGGGAGCAGCCAGAGGGCCAAGTGACCAAGAGGATGGGGCC
TGAGCTGGGGAAGGGGTGGCATCGAGGACCTTCTTGCATTCTCCTGTGGGAAGCCCAGTGCCTTTGCTCCTCTGTCCTGCCTCTACTCCCACCCCCACTA
CCTCTGGGAACCACAGCTCCACAAGGGGGAGAGGCAGCTGGGCCAGACCGAGGTCACAGCCACTCCAAGTCCTGCCCTGCCACCCTCGGCCTCTGTCCTG
GAAGCCCCACCCCTTTCCTCCTGTACATAATGTCACTGGCTTGTTGGGATTTTTAATTTATCTTCACTCAGCACCAAGGGCCCCCGACACTCCACTCCTG
CTGCCCCTGAGCTGAGCAGAGTCATTATTGGAGAGTTTTGTATTTATTAAAACATTTCTTTTTCAGTC

Protein Sequence    (SEQ ID NO:814):
MDWLVLGELQMALEWAGRPGLRISGHIAARKSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQVQVVGTSSEVVAMTLETKPQRRDQRTVLCH
MAGLQPGGHTAVGICPGLGARGAHMLLQNELFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAGALVLPPVKSQAAGHAWLSLDTHCHLHYEVL
LAGLGGSEQGTVTAHLLGPPGTPGPRRLLKGFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGELRGQVHIANQCEVGGLRLEAAGAEGVRALG
APDTASAAPPVVPGLPALAPAKPGGPGRPRDPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDPVVCPPPSCPHPVQAPDQCCPVCPEKQDVRD
LPGLPRSRDPGEGCYFDGDRSWRAAGTRWHPVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVRVNPTDCCKQCPVGSGAHPQLGDPMQADGPR
GCRFAGQWFPESQSWHPSVPPFGEMSCITCRCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAPETRTDPELEKEAEGS


SNP Information

Context             (SEQ ID NO:3226):
TGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  1505
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:814, 134, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3227):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  1881
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:814, 260, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3228):
CCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCC
K
TTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGG
Celera SNP ID:            hCV16184729
SNP Position Transcript:  2666
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,29)   caucasian(G,1|T,29)   total(G,8|T,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:814, 521, (P,CCG)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,248|T,1239)   total(G,248|T,1239) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:814, 521, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3229):
CCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGG
M
GCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGC
Celera SNP ID:            hCV25928057
SNP Position Transcript:  499
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,8|C,32)   total(A,13|C,61)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,30)   caucasian(A,8|C,30)   total(A,14|C,60)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None



Context             (SEQ ID NO:3230):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  109
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None   



Context             (SEQ ID NO:3231):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  1817
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:814, 238, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3232):
CAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCG
R
AGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGG
Celera SNP ID:            hCV25930280
SNP Position Transcript:  419
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None



Context             (SEQ ID NO:3233):
GGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGC
Y
CTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCA
Celera SNP ID:            hCV25923420
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,37|T,1)   total(C,64|T,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None



Context             (SEQ ID NO:3234):
AGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  1152
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:814, 17, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3235):
CGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCC
S
GAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGT
Celera SNP ID:            hCV265628
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(G,36)   total(C,4|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;JBIC-allele(C,245|G,1222)   total(G,1222|C,245)   no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:814, None   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT2318237 - 104000117326698
Public Transcript Accession: 
Celera Protein:              hCP1784632 - 197000064917273
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11213046..11218204)
Chromosome:                  Chr3
OMIM number:                 603475
OMIM Information:            CHORDIN;CHRD


Transcript Sequence (SEQ ID NO:118):
AACAYRTGAGAAGGTTAGGGAGAGCACCTGTCTCAGAAAGGCCCACATGTGCGGCCTTGCAGGACTAACCCAGGTTCCCTTGAGGCTCCAGATTCTACAC
CAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGTGAGTGGGGATCTGGCTCTCGCTGCCACCTGTCTTGGCCTCTTGCTATTGCCCA
TCACACCCTGCTCTGTCCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATG
GCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATG
CCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCAGCCAGCCTCACGCTGCTAGGAAATGGCTCCCTGATCTATCAGGTGCAAGTGGTAGGGACAAGCAG
TGAGGTGGTGGCCATGACACTGGAGACCAAGCCTCAGCGGAGGGATCAGCGCACTGTCCTGTGCCACATGGCTGGACTCCAGCCAGGAGGACACACGGCC
GTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAAYGTGGGCACCAAGGACTTCCCAGACGGAGAGC
TTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCCTAGCAGGAGCCCTGGTGCTACCCCCTGTGAA
GAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGGATACCCACTGTCACCTGCACTATGAAGTGCTGCTGGCTGGGCTTGGTGGCTCAGAACAAGGCACT
GTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCARGGTGTGGTGAAGGACCTGG
AGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGMTGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGC
CAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGCCGAGGGGGTGCGGGCGCTGGGGGCTCCGGATACAGCCTCTGCTGCGCCGCCTGTG
GTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACCTGGTGGTCCTGGGCGGCCCCGAGACCCCAACACATGCTTCTTCGAGGGGCAGCAGCGCCCCCACG
GGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGCTCACTCTGCACCTGCCAGAGACGAACGGTGATCTGTGACCCGGTGGTGTGCCCACCGCCCAGCTG
CCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCCCTGTTTGCCCTGAGAAACAAGATGTCAGAGACTTGCCAGGGCTGCCAAGGAGCCGGGACCCAGGA
GAGGGGGGGCACTGGAGAGGTGCACTG

Protein Sequence    (SEQ ID NO:815):
MDWLVLGELQMALEWAGRPGLRISGHIAARKSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQVQVVGTSSEVVAMTLETKPQRRDQRTVLCH
MAGLQPGGHTAVGICPGLGARGAHMLLQNELFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAGALVLPPVKSQAAGHAWLSLDTHCHLHYEVL
LAGLGGSEQGTVTAHLLGPPGTPGPRRLLKGFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGELRGQVHIANQCEVGGLRLEAAGAEGVRALG
APDTASAAPPVVPGLPALAPAKPGGPGRPRDPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDPVVCPPPSCPHPVQAPDQCCPVCPEKQDVRD
LPGLPRSRDPGEGGHWRGAL


SNP Information

Context             (SEQ ID NO:3236):
TGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  669
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:815, 134, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3237):
AACA
Y
GTGAGAAGGTTAGGGAGAGCACCTGTCTCAGAAAGGCCCACATGTGCGGCCTTGCAGGACTAACCCAGGTTCCCTTGAGGCTCCAGATTCTACACCAGGG
Celera SNP ID:            hCV25928755
SNP Position Transcript:  5
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,22)   total(C,54|T,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:815, None

SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,10)   total(C,38|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:815, None



Context             (SEQ ID NO:3238):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  1045
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:815, 260, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3239):
AACAC
R
TGAGAAGGTTAGGGAGAGCACCTGTCTCAGAAAGGCCCACATGTGCGGCCTTGCAGGACTAACCCAGGTTCCCTTGAGGCTCCAGATTCTACACCAGGGG
Celera SNP ID:            hCV25928756
SNP Position Transcript:  6
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(G,22)   total(A,5|G,51)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:815, None



Context             (SEQ ID NO:3240):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  981
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:815, 238, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3241):
TCCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:815, 17, (S,AGC)   (G,GGC)   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT2318238 - 104000117326764
Public Transcript Accession: 
Celera Protein:              hCP1784635 - 197000064917276
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11211170..11220701)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:119):
CCCCAGCTGTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGC
GCCGGCCCMGAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCT
TGGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGG
CYCTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCC
CAGGAGCGCAGCAGTTCGRAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCSGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGMG
CTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGCG
CTCTAGCCTCCGCTTCTCTATCTCCTACAGGCGGCTGGACCGCCCTACCAGGATCCGCTTCTCAGACTCCAATGGCAGTGTCCTGTTTGAGCACCCTGCA
GCCCCCACCCAAGATGGCCTGGTCTGTGGGGTGTGGCGGGCAGTGCCTCGGTTGTCTCTGCGGCTCCTTAGGGCAGAACAGCTGCATGTGGCACTTGTGA
CACTCACTCACCCTTCAGGGGAGGTCTGGGGGCCTCTCATCCGGCACCGGGCCCTGGCTGCAGAGACCTTCAGTGCCATCCTGACTCTAGAAGGCCCCCC
ACAGCAGGGCGTAGGGGGCATCACCCTGCTCACTCTCAGTGACACAGAGGACTCCTTGCATTTTTTGCTGCTCTTCCGAGGGCTGCTGGAACCCAGGAGT
GGGGGACTAACCCAGGTTCCCTTGAGGCTCCAGATTCTACACCAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGAACCAGGCTTTG
CTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCAT
CAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCA
GCCAGCCTCACGCTGCTAGGAAATGGCTCCCTGATCTATCAGGTGCAAGTGGTAGGGACAAGCAGTGAGGTGGTGGCCATGACACTGGAGACCAAGCCTC
AGCGGAGGGATCAGCGCACTGTCCTGTGCCACATGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGC
TCATATGCTGCTGCAGAATGAGCTCTTCCTGAAYGTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGG
CATAGCGCCCGCCATGACACGCTGCCCGTGCCCCTAGCAGGAGCCCTGGTGCTACCCCCTGTGAAGAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGG
ATACCCACTGTCACCTGCACTATGAAGTGCTGCTGGCTGGGCTTGGTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCC
AGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCARGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATG
GCCTCCCTGMTGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGG
CGGCCGGGGCCGAGGGGGTGCGGGCGCTGGGGGCTCCGGATACAGCCTCTGCTGCGCCGCCTGTGGTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACC
TGGTGGTCCTGGGCGGCCCCGAGACCCCAACACATGCTTCTTCGAGGGGCAGCAGCGCCCCCACGGGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGC
TCACTCTGCACCTGCCAGAGACGAACGGTGATCTGTGACCCGGTGGTGTGCCCACCGCCCAGCTGCCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCC
CTGTTTGCCCTGAGAAACAAGATGTCAGAGACTTGCCAGGGCTGCCAAGGAGCCGGGACCCAGGAGAGGGCTGCTATTTTGATGGTGACCGGAGCTGGCG
GGCAGCGGGTACGCGGTGGCACCCCGTTGTGCCCCCCTTTGGCTTAATTAAGTGTGCTGTCTGCACCTGCAAGGGGGGCACTGGAGAGGTGCACTGTGAG
AAGGTGCAGTGTCCCCGGCTGGCCTGTGCCCAGCCTGTGCGTGTCAACCCCACCGACTGCTGCAAACAGTGTCCAGTGGGGTCGGGGGCCCACCCCCAGC
TGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCCKTTTGG
AGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGGAGAGT
CGATGCTGTTCCCGCTGCACGGCCCACCGGCGGCCAGCCCCAGAGACCAGAACTGATCCAGAGCTGGAGAAAGAAGCCGAAGGCTCTTAGGGAGCAGCCA
GAGGGCCAAGTGACCAAGAGGATGGGGCCTGAGCTGGGGAAGGGGTGGCATCGAGGACCTTCTTGCATTCTCCTGTGGGAAGCCCAGTGCCTTTGCTCCT
CTGTCCTGCCTCTACTCCCACCCCCACTACCTCTGGGAACCACAGCTCCACAAGGGGGAGAGGCAGCTGGGCCAGACCGAGGTCACAGCCACTCCAAGTC
CTGCCCTGCCACCCTCGGCCTCTGTCCTGGAAGCCCCACCCCTTTCCTCCTGTACATAATGTCACTGGCTTGTTGGGATTTTTAATTTATCTTCACTCAG
CACCAAGGGCCCCCGACACTCCACTCCTGCTGCCCCTGAGCTGAGCAGAGTCATTATTGGAGAGTTTTGTATTTATTAAAACATTTCTTTTTCAGTC

Protein Sequence    (SEQ ID NO:816):
MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYALDETWHPDLGEPFGVMRCVLCACEAPQWGRRTRGPGRVSCK
NIKPECPTPACGQPRQLPGHCCQTCPQERSSSERQPSGLSFEYPRDPEHRSYSDRGEPGAEERARGDGHTDFVALLTGPRSQAVARARVSLLRSSLRFSI
SYRRLDRPTRIRFSDSNGSVLFEHPAAPTQDGLVCGVWRAVPRLSLRLLRAEQLHVALVTLTHPSGEVWGPLIRHRALAAETFSAILTLEGPPQQGVGGI
TLLTLSDTEDSLHFLLLFRGLLEPRSGGLTQVPLRLQILHQGQLLRELQANVSAQEPGFAEVLPNLTVQEMDWLVLGELQMALEWAGRPGLRISGHIAAR
KSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQVQVVGTSSEVVAMTLETKPQRRDQRTVLCHMAGLQPGGHTAVGICPGLGARGAHMLLQNE
LFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAGALVLPPVKSQAAGHAWLSLDTHCHLHYEVLLAGLGGSEQGTVTAHLLGPPGTPGPRRLLK
GFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGELRGQVHIANQCEVGGLRLEAAGAEGVRALGAPDTASAAPPVVPGLPALAPAKPGGPGRPR
DPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDPVVCPPPSCPHPVQAPDQCCPVCPEKQDVRDLPGLPRSRDPGEGCYFDGDRSWRAAGTRWH
PVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVRVNPTDCCKQCPVGSGAHPQLGDPMQADGPRGCRFAGQWFPESQSWHPSVPPFGEMSCITC
RCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAPETRTDPELEKEAEGS


SNP Information

Context             (SEQ ID NO:3242):
TGGCTGGACTCCAGCCAGGAGGACACACGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 504, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3243):
CCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCC
K
TTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGG
Celera SNP ID:            hCV16184729
SNP Position Transcript:  2695
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,29)   caucasian(G,1|T,29)   total(G,8|T,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 891, (P,CCG)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,248|T,1239)   total(G,248|T,1239) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 891, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3244):
CCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGG
M
GCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGC
Celera SNP ID:            hCV25928057
SNP Position Transcript:  499
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,8|C,32)   total(A,13|C,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 159, (G,GGA)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,30)   caucasian(A,8|C,30)   total(A,14|C,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 159, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:3245):
CGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCC
S
GAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGT
Celera SNP ID:            hCV265628
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(G,36)   total(C,4|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 147, (P,CCC)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 147, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;JBIC-allele(C,245|G,1222)   total(G,1222|C,245)   no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 147, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:3246):
AGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  1181
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:816, 387, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3247):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  1910
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:816, 630, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3248):
CAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCG
R
AGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGG
Celera SNP ID:            hCV25930280
SNP Position Transcript:  419
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:816, 133, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:3249):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  1846
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 608, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3250):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  109
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:816, 29, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3251):
GGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGC
Y
CTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCA
Celera SNP ID:            hCV25923420
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,37|T,1)   total(C,64|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:816, 94, (P,CCT)   (S,TCT)   



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT2318233 - 104000117326692
Public Transcript Accession: 
Celera Protein:              hCP1784627 - 197000064917268
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11219892..11220701)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:120):
CCCCAGCTGTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGC
GCCGGCCCMGAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCT
TGGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGACAGGGACCTTGAGGCCCAGAGAGAT
GAAG

Protein Sequence    (SEQ ID NO:817):
MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYALDETWHPDLGEPFGVMRCVLCACEATGTLRPREMK


SNP Information

Context             (SEQ ID NO:3252):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  109
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:817, 29, (P,CCA)   (P,CCC)      



Gene Number:                 53
Celera Gene:                 hCG1778342 - 104000117326636
Celera Transcript:           hCT1965294 - 104000117326637
Public Transcript Accession: 
Celera Protein:              hCP1780565 - 197000064917271
Public Protein Accession:    
Gene Symbol:                 CHRD
Protein Name:                chordin
Celera Genomic Axis:         GA_x5YUV32VYQG(11211170..11221373)
Chromosome:                  Chr3
OMIM number:                 600044
OMIM Information:            THROMBOPOIETIN;THPO


Transcript Sequence (SEQ ID NO:121):
CCTGGGCTGGACACCGACCTCCTGGTCCAGCCGCCCTGTGGCCGCCAGCAGCGGGGGGCTCCGGGCCCGCCTCTCCTCCCCCTCTTCGCGCCCCCTGGTC
CCTCCCCTCCCCCTCCCCCGCTCCCCCTTCCCCTCCCGCCCCTCCCTCCTCCCCTGCCCGGCCCGCCCGCGCTCCTCCCGGCCGCTCCTCCCGCCCCGCC
CGGGCCGGCGCCGACTCTGCGGCCGCCCGACGAGCCCCTCGCGGCACTGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCTCCCGCCGCACCGCCCCCGGCC
CGGCCCTCCGCCCTCCGCACTCCCGCCTCCCTCCCTCCGCCCGCTCCCGCGCCCTCCTCCCTCCCTCCTCCCCAGCTGTCCCGTTCGCGTCATGCCGAGC
CTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCCMGAGCCCCCCGTGCTGCCCATCC
GTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGACGTGGCACCCGGACCTAGGGGA
GCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGCYCTGGCAGGGTCAGCTGCAAGAACATCAAA
CCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGRAGCGGCAGCCGA
GCGGCCTGTCCTTCGAGTATCCGCGGGACCCSGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGMGCTGAGGAGCGGGCCCGTGGTGACGGCCACAC
GGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGCGCTCTAGCCTCCGCTTCTCTATCTCCTACAGG
CGGCTGGACCGCCCTACCAGGATCCGCTTCTCAGACTCCAATGGCAGTGTCCTGTTTGAGCACCCTGCAGCCCCCACCCAAGATGGCCTGGTCTGTGGGG
TGTGGCGGGCAGTGCCTCGGTTGTCTCTGCGGCTCCTTAGGGCAGAACAGCTGCATGTGGCACTTGTGACACTCACTCACCCTTCAGGGGAGGTCTGGGG
GCCTCTCATCCGGCACCGGGCCCTGGCTGCAGAGACCTTCAGTGCCATCCTGACTCTAGAAGGCCCCCCACAGCAGGGCGTAGGGGGCATCACCCTGCTC
ACTCTCAGTGACACAGAGGACTCCTTGCATTTTTTGCTGCTCTTCCGAGGGCTGCTGGAACCCAGGAGTGGGGGACTAACCCAGGTTCCCTTGAGGCTCC
AGATTCTACACCAGGGGCAGCTACTGCGAGAACTTCAGGCCAATGTCTCAGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGA
GATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCARGCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGC
GACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCAGACGGGTGCTGCCGGCTCAGCCAGCCTCACGCTGCTAGGAAATGGCTCCC
TGATCTATCAGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAAYGTGGGCACCAAGGACTT
CCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCCTAGCAGGAGCCCTGGTG
CTACCCCCTGTGAAGAGCCAAGCAGCAGGGCACGCCTGGCTTTCCTTGGATACCCACTGTCACCTGCACTATGAAGTGCTGCTGGCTGGGCTTGGTGGCT
CAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCARGGTGT
GGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGMTGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGG
CAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGCCGAGGGGGTGCGGGCGCTGGGGGCTCCGGATACAGCCTCTG
CTGCGCCGCCTGTGGTGCCTGGTCTCCCGGCCCTAGCGCCCGCCAAACCTGGTGGTCCTGGGCGGCCCCGAGACCCCAACACATGCTTCTTCGAGGGGCA
GCAGCGCCCCCACGGGGCTCGCTGGGCGCCCAACTACGACCCGCTCTGCTCACTCTGCACCTGCCAGAGACGAACGGTGATCTGTGACCCGGTGGTGTGC
CCACCGCCCAGCTGCCCACACCCGGTGCAGGCTCCCGACCAGTGCTGCCCTGTTTGCCCTGAGAAACAAGATGTCAGAGACTTGCCAGGGCTGCCAAGGA
GCCGGGACCCAGGAGAGGGCTGCTATTTTGATGGTGACCGGAGCTGGCGGGCAGCGGGTACGCGGTGGCACCCCGTTGTGCCCCCCTTTGGCTTAATTAA
GTGTGCTGTCTGCACCTGCAAGGGGGGCACTGGAGAGGTGCACTGTGAGAAGGTGCAGTGTCCCCGGCTGGCCTGTGCCCAGCCTGTGCGTGTCAACCCC
ACCGACTGCTGCAAACAGTGTCCAGTGGGGTCGGGGGCCCACCCCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGC
AGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCCKTTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGA
GCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGGAGAGTCGATGCTGTTCCCGCTGCACGGCCCACCGGCGGCCAGCCCCAGAGACCAGA
ACTGATCCAGAGCTGGAGAAAGAAGCCGAAGGCTCTTAGGGAGCAGCCAGAGGGCCAAGTGACCAAGAGGATGGGGCCTGAGCTGGGGAAGGGGTGGCAT
CGAGGACCTTCTTGCATTCTCCTGTGGGAAGCCCAGTGCCTTTGCTCCTCTGTCCTGCCTCTACTCCCACCCCCACTACCTCTGGGAACCACAGCTCCAC
AAGGGGGAGAGGCAGCTGGGCCAGACCGAGGTCACAGCCACTCCAAGTCCTGCCCTGCCACCCTCGGCCTCTGTCCTGGAAGCCCCACCCCTTTCCTCCT
GTACATAATGTCACTGGCTTGTTGGGATTTTTAATTTATCTTCACTCAGCACCAAGGGCCCCCGACACTCCACTCCTGCTGCCCCTGAGCTGAGCAGAGT
CATTATTGGAGAGTTTTGTATTTATTAAAACATTTCTTTTTCAGTC

Protein Sequence    (SEQ ID NO:818):
MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYALDETWHPDLGEPFGVMRCVLCACEAPQWGRRTRGPGRVSCK
NIKPECPTPACGQPRQLPGHCCQTCPQERSSSERQPSGLSFEYPRDPEHRSYSDRGEPGAEERARGDGHTDFVALLTGPRSQAVARARVSLLRSSLRFSI
SYRRLDRPTRIRFSDSNGSVLFEHPAAPTQDGLVCGVWRAVPRLSLRLLRAEQLHVALVTLTHPSGEVWGPLIRHRALAAETFSAILTLEGPPQQGVGGI
TLLTLSDTEDSLHFLLLFRGLLEPRSGGLTQVPLRLQILHQGQLLRELQANVSAQEPGFAEVLPNLTVQEMDWLVLGELQMALEWAGRPGLRISGHIAAR
KSCDVLQSVLCGADALIPVQTGAAGSASLTLLGNGSLIYQAVGICPGLGARGAHMLLQNELFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAG
ALVLPPVKSQAAGHAWLSLDTHCHLHYEVLLAGLGGSEQGTVTAHLLGPPGTPGPRRLLKGFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGE
LRGQVHIANQCEVGGLRLEAAGAEGVRALGAPDTASAAPPVVPGLPALAPAKPGGPGRPRDPNTCFFEGQQRPHGARWAPNYDPLCSLCTCQRRTVICDP
VVCPPPSCPHPVQAPDQCCPVCPEKQDVRDLPGLPRSRDPGEGCYFDGDRSWRAAGTRWHPVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVR
VNPTDCCKQCPVGSGAHPQLGDPMQADGPRGCRFAGQWFPESQSWHPSVPPFGEMSCITCRCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAP
ETRTDPELEKEAEGS


SNP Information

Context             (SEQ ID NO:3253):
TGCTAGGAAATGGCTCCCTGATCTATCAGGCCGTGGGTATCTGCCCTGGGCTGGGTGCCCGAGGGGCTCATATGCTGCTGCAGAATGAGCTCTTCCTGAA
Y
GTGGGCACCAAGGACTTCCCAGACGGAGAGCTTCGGGGGCACGTGGCTGCCCTGCCCTACTGTGGGCATAGCGCCCGCCATGACACGCTGCCCGTGCCCC
Celera SNP ID:            hCV25927153
SNP Position Transcript:  1783
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,35|T,5)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 464, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:3254):
CCCAGCTGGGGGACCCCATGCAGGCTGATGGGCCCCGGGGCTGCCGTTTTGCTGGGCAGTGGTTCCCAGAGAGTCAGAGCTGGCACCCCTCAGTGCCCCC
K
TTTGGAGAGATGAGCTGTATCACCTGCAGATGTGGGGCAGGGGTGCCTCACTGTGAGCGGGATGACTGTTCACTGCCACTGTCCTGTGGCTCGGGGAAGG
Celera SNP ID:            hCV16184729
SNP Position Transcript:  2944
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,29)   caucasian(G,1|T,29)   total(G,8|T,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 851, (P,CCG)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,248|T,1239)   total(G,248|T,1239) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 851, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3255):
CCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGG
M
GCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGTCGCAGGCGGTGGCACGAGCCCGAGTCTCGCTGCTGC
Celera SNP ID:            hCV25928057
SNP Position Transcript:  868
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,29)   caucasian(A,8|C,32)   total(A,13|C,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 159, (G,GGA)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|C,30)   caucasian(A,8|C,30)   total(A,14|C,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 159, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:3256):
CGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCGGAGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCC
S
GAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGGTGACGGCCACACGGACTTCGTGGCGCTGCTGACAGGGCCGAGGT
Celera SNP ID:            hCV265628
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,28)   caucasian(G,36)   total(C,4|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 147, (P,CCC)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 147, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;JBIC-allele(C,245|G,1222)   total(G,1222|C,245)   no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 147, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:3257):
AGCCCAGGAACCAGGCTTTGCTGAGGTGCTGCCCAACCTGACAGTCCAGGAGATGGACTGGCTGGTGCTGGGGGAGCTGCAGATGGCCCTGGAGTGGGCA
R
GCAGGCCAGGGCTGCGCATCAGTGGACACATTGCTGCCAGGAAGAGCTGCGACGTCCTGCAAAGTGTCCTTTGTGGGGCTGATGCCCTGATCCCAGTCCA
Celera SNP ID:            hCV25929225
SNP Position Transcript:  1550
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(G,24)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:818, 387, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3258):
GCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCAGGGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTG
M
TGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCCGAGGGCAGGTGCACATAGCCAACCAATGTGAGGTTGGCGGACTGCGCCTGGAGGCGGCCGGGGC
Celera SNP ID:            hCV25928417
SNP Position Transcript:  2159
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,6)   caucasian(A,32|C,8)   total(A,58|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:818, 590, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:3259):
CAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCAGGAGCGCAGCAGTTCG
R
AGCGGCAGCCGAGCGGCCTGTCCTTCGAGTATCCGCGGGACCCGGAGCATCGCAGTTATAGCGACCGCGGGGAGCCAGGCGCTGAGGAGCGGGCCCGTGG
Celera SNP ID:            hCV25930280
SNP Position Transcript:  788
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:818, 133, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:3260):
GTGGCTCAGAACAAGGCACTGTCACTGCCCACCTCCTTGGGCCTCCTGGAACGCCAGGGCCTCGGCGGCTGCTGAAGGGATTCTATGGCTCAGAGGCCCA
R
GGTGTGGTGAAGGACCTGGAGCCGGAACTGCTGCGGCACCTGGCAAAAGGCATGGCCTCCCTGATGATCACCACCAAGGGTAGCCCCAGAGGGGAGCTCC
Celera SNP ID:            hCV25928292
SNP Position Transcript:  2095
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 568, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3261):
GTCCCGTTCGCGTCATGCCGAGCCTCCCGGCCCCGCCGGCCCCGCTGCTGCTCCTCGGGCTGCTGCTGCTCGGCTCCCGGCCGGCCCGCGGCGCCGGCCC
M
GAGCCCCCCGTGCTGCCCATCCGTTCTGAGAAGGAGCCGCTGCCCGTTCGGGGAGCGGCAGGCTGCACCTTCGGCGGGAAGGTCTATGCCTTGGACGAGA
Celera SNP ID:            hCV12070399
SNP Position Transcript:  478
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,2)      total(A,2|C,1) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:818, 29, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:3262):
GGACGAGACGTGGCACCCGGACCTAGGGGAGCCATTCGGGGTGATGCGCTGCGTGCTGTGCGCCTGCGAGGCGCCTCAGTGGGGTCGCCGTACCAGGGGC
Y
CTGGCAGGGTCAGCTGCAAGAACATCAAACCAGAGTGCCCAACCCCGGCCTGTGGGCAGCCGCGCCAGCTGCCGGGACACTGCTGCCAGACCTGCCCCCA
Celera SNP ID:            hCV25923420
SNP Position Transcript:  671
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,37|T,1)   total(C,64|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:818, 94, (P,CCT)   (S,TCT)   



Gene Number:                 54
Celera Gene:                 hCG1780249 - 30000041568740
Celera Transcript:           hCT1819075 - 30000041568748
Public Transcript Accession: NM_001011
Celera Protein:              hCP1738358 - 197000064952214
Public Protein Accession:    NP_001002
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(14885530..14886232)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:122):
AGCAGCTCTTCATAAGCCGGCGCTCGGCGAGTTCTCCCAGGAGAAGGCCATGTTCAGTTCGRGCGCCAAGATCGTGAAACCCAACGGCGAGAAGCCGGAG
GAGTTCGAGTCCGGCATCTCCCAGGCTCTTCTGGAGCTGGAGATGAACTCAGAMCTCAAGGCTCAGCTCAGAGAGCTGAATATTACGGCAGCCAAGGAAA
TTGAAGTTGGTGGTGGTCGGAAAGCTATCATAATACTTGTTCCCGTTACTCAACTGAAATCTTTCCAGAAAATCCAAATCCGGCTAGTAAGTGAATTGGA
GAAAAAGTTCAKTGGGAAGCATGTCGTCTTTATCGCTCAGAGGAGAATTCTGCCTAAGCCAACTCGAAAAAGCTGTACAAAAAATAAGCAAAAGCGTCCC
AGGAGCAGCACTGTGACAGCTGTGCACGATGCCATCCTTGAGGACTTGGTCTTCCCAAGTGAAATTGTGGGCAAGAAAATCCGCGTCAAACTAGATGRCA
GCCGGCTCATAAAGGTTCATTTGGACAAARCACAACAGAACAATGTGGAACACAAGGTTGAAACTTTTTCTGGTGTCTATAAGAAGCTCATGGGCAAGGA
TGTTAATTGTGAATTCCCAGAGTTTCAATAGTAAACAAAAATGACTAAATAAAAATATATATATTCATAGTAAAAACACACACACACACACACACACACA
CA

Protein Sequence    (SEQ ID NO:819):
MFSSSAKIVKPNGEKPEEFESGISQALLELEMNSELKAQLRELNITAAKEIEVGGGRKAIIILVPVTQLKSFQKIQIRLVSELEKKFSGKHVVFIAQRRI
LPKPTRKSCTKNKQKRPRSSTVTAVHDAILEDLVFPSEIVGKKIRVKLDGSRLIKVHLDKAQQNNVEHKVETFSGVYKKLMGKDVNCEFPEFQ


SNP Information

Context             (SEQ ID NO:3263):
AGCAGCTCTTCATAAGCCGGCGCTCGGCGAGTTCTCCCAGGAGAAGGCCATGTTCAGTTCG
R
GCGCCAAGATCGTGAAACCCAACGGCGAGAAGCCGGAGGAGTTCGAGTCCGGCATCTCCCAGGCTCTTCTGGAGCTGGAGATGAACTCAGAACTCAAGGC
Celera SNP ID:            hCV25653665
SNP Position Transcript:  62
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 5, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:3264):
TGCCATCCTTGAGGACTTGGTCTTCCCAAGTGAAATTGTGGGCAAGAAAATCCGCGTCAAACTAGATGGCAGCCGGCTCATAAAGGTTCATTTGGACAAA
R
CACAACAGAACAATGTGGAACACAAGGTTGAAACTTTTTCTGGTGTCTATAAGAAGCTCATGGGCAAGGATGTTAATTGTGAATTCCCAGAGTTTCAATA
Celera SNP ID:            hCV25653669
SNP Position Transcript:  530
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,31)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 161, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:3265):
GGTGGTCGGAAAGCTATCATAATACTTGTTCCCGTTACTCAACTGAAATCTTTCCAGAAAATCCAAATCCGGCTAGTAAGTGAATTGGAGAAAAAGTTCA
K
TGGGAAGCATGTCGTCTTTATCGCTCAGAGGAGAATTCTGCCTAAGCCAACTCGAAAAAGCTGTACAAAAAATAAGCAAAAGCGTCCCAGGAGCAGCACT
Celera SNP ID:            hCV25653670
SNP Position Transcript:  312
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,38)   total(G,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 88, (S,AGT)   (I,ATT)   



Context             (SEQ ID NO:3266):
CCCAGGAGCAGCACTGTGACAGCTGTGCACGATGCCATCCTTGAGGACTTGGTCTTCCCAAGTGAAATTGTGGGCAAGAAAATCCGCGTCAAACTAGATG
R
CAGCCGGCTCATAAAGGTTCATTTGGACAAAGCACAACAGAACAATGTGGAACACAAGGTTGAAACTTTTTCTGGTGTCTATAAGAAGCTCATGGGCAAG
Celera SNP ID:            hCV11288261
SNP Position Transcript:  498
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,5|G,27)   total(A,5|G,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 150, (D,GAC)   (G,GGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,3)   total(G,3|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 150, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:3267):
TCAGTTCGAGCGCCAAGATCGTGAAACCCAACGGCGAGAAGCCGGAGGAGTTCGAGTCCGGCATCTCCCAGGCTCTTCTGGAGCTGGAGATGAACTCAGA
M
CTCAAGGCTCAGCTCAGAGAGCTGAATATTACGGCAGCCAAGGAAATTGAAGTTGGTGGTGGTCGGAAAGCTATCATAATACTTGTTCCCGTTACTCAAC
Celera SNP ID:            hCV22273659
SNP Position Transcript:  154
SNP Source:               Applera
Population(Allele,Count): african american(A,32|C,4)   caucasian(A,31|C,7)   total(A,63|C,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 35, (E,GAA)   (D,GAC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,6)      total(A,6|C,3) ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:819, 35, (E,GAA)   (D,GAC)      



Gene Number:                 55
Celera Gene:                 hCG1780502 - 84000314999332
Celera Transcript:           hCT1819333 - 84000314999333
Public Transcript Accession: 
Celera Protein:              hCP1739444 - 197000064952756
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(36458361..36460060)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:123):
TGGGCAGATGGGCTGACTGGCTGGGCAGATGGGTGGGTGAGTTCCCTCTCCCCAGAGCCATCGGCCAGGTACCAAAGCTCAGCTGTATGGATTCCCAACA
GGAGGACCTGCGCTTCCCTGGGARGTGGGTCTCATTGTACTTTGGAATCCTGGGGCTGTGTTCTGTGATAACTGGAGGGTGCATTATCTTTCTGCACTGG
AGGAAGAACTTGAGGCGGGAAGAGCATGCCCAGCAGTGGGTGGAGGTGATGAGAGCTGCCACATTCACCTACAGCCCATTGTTGTACTGGATTAACAAGC
GACGGCGCTACGGCATGAATGCAGCCATCAACACGGGCCCTGCCCCTGCTGTCACCAAGACTGAGACTGAGGTCCAGAATCCAGATGTTCTGTGGGAKTT
GGACATCCCCGAAGGCAGGAGCCATGCTGACCAAGACAGCAACCCCAAGGCGGAAGCCCCTGCTCCCCTGCAACCTGCACTGCAGCTGGCTCCACAGCAG
CCCCAGGCCAGATCCCCATTCCCACTTCCCATCTTTCAGGAGGTGCCCTTTGCCCCACCCTTGTGCAACCTACCCCCCCTGCTGAACCACTCTGTCTCCT
ATCCTTTGGCCACCTGTCCTGAAAGGAATGTTCTCTTCCATTCCCTCCTGAATCTGGCCCAGGAAGACCATAGCTTCAATGYCAAGCCTTTTCCTTCAGA
ACTGTAGCCTCCTCTCACYGAAGGTGGGAGCTGCAGGAATCAGGTGCAGAGTAGGAAATGGAACTAACCTCAGGAAGGTGGTATTGACAGAGGTCAGG

Protein Sequence    (SEQ ID NO:820):
MDSQQEDLRFPGMWVSLYFGILGLCSVITGGCIIFLHWRKNLRREEHAQQWVEVMRAATFTYSPLLYWINKRRRYGMNAAINTGPAPAVTKTETEVQNPD
VLWELDIPEGRSHADQDSNPKAEAPAPLQPALQLAPQQPQARSPFPLPIFQEVPFAPPLCNLPPLLNHSVSYPLATCPERNVLFHSLLNLAQEDHSFNAK
PFPSEL


SNP Information

Context             (SEQ ID NO:3268):
AGCGACGGCGCTACGGCATGAATGCAGCCATCAACACGGGCCCTGCCCCTGCTGTCACCAAGACTGAGACTGAGGTCCAGAATCCAGATGTTCTGTGGGA
K
TTGGACATCCCCGAAGGCAGGAGCCATGCTGACCAAGACAGCAACCCCAAGGCGGAAGCCCCTGCTCCCCTGCAACCTGCACTGCAGCTGGCTCCACAGC
Celera SNP ID:            hCV809542
SNP Position Transcript:  398
SNP Source:               Applera
Population(Allele,Count): african american(G,16|T,10)   caucasian(G,9|T,19)   total(G,25|T,29)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:820, 104, (E,GAG)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,14)   caucasian(G,14|T,22)   total(G,36|T,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:820, 104, (E,GAG)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   Caucasian(G,31|T,51)   no_pop(G,-|T,-)   total(G,31|T,51)   JBIC-allele(T,270|G,1159)   total(G,1159|T,270)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:820, 104, (E,GAG)   (D,GAT)      



Context             (SEQ ID NO:3269):
CTGAACCACTCTGTCTCCTATCCTTTGGCCACCTGTCCTGAAAGGAATGTTCTCTTCCATTCCCTCCTGAATCTGGCCCAGGAAGACCATAGCTTCAATG
Y
CAAGCCTTTTCCTTCAGAACTGTAGCCTCCTCTCACTGAAGGTGGGAGCTGCAGGAATCAGGTGCAGAGTAGGAAATGGAACTAACCTCAGGAAGGTGGT
Celera SNP ID:            hCV3073205
SNP Position Transcript:  682
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,9)   caucasian(C,21|T,9)   total(C,46|T,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:820, 199, (A,GCC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:820, 199, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:3270):
CTGAAAGGAATGTTCTCTTCCATTCCCTCCTGAATCTGGCCCAGGAAGACCATAGCTTCAATGCCAAGCCTTTTCCTTCAGAACTGTAGCCTCCTCTCAC
Y
GAAGGTGGGAGCTGCAGGAATCAGGTGCAGAGTAGGAAATGGAACTAACCTCAGGAAGGTGGTATTGACAGAGGTCAGG
Celera SNP ID:            hCV25745122
SNP Position Transcript:  719
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,30)   total(C,1|T,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:820, None



Context             (SEQ ID NO:3271):
GGCAGATGGGTGGGTGAGTTCCCTCTCCCCAGAGCCATCGGCCAGGTACCAAAGCTCAGCTGTATGGATTCCCAACAGGAGGACCTGCGCTTCCCTGGGA
R
GTGGGTCTCATTGTACTTTGGAATCCTGGGGCTGTGTTCTGTGATAACTGGAGGGTGCATTATCTTTCTGCACTGGAGGAAGAACTTGAGGCGGGAAGAG
Celera SNP ID:            hCV25745751
SNP Position Transcript:  124
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,32)   total(A,1|G,63)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:820, None



Gene Number:                 56
Celera Gene:                 hCG1781264 - 30000035307878
Celera Transcript:           hCT1820127 - 30000035307881
Public Transcript Accession: 
Celera Protein:              hCP1736873 - 30000035307876
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x54KRFTF0F9(646532..648708)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:124):
CTCTCCCGGGTTTCGGGGTGGCCGGGGCGCCTCCTCACCGGGGCGGCCGCAGAGCAGGGACCCCAGTGCCTCCCATGGCCGCCCCGACAGGGGACGTTCC
CGCCCGGGGCCATTCTCACCGCATCGCGCCCGGGCGGGAGCAGCGCTGGGGCGGCCGGGGCTGGTCTCGGCGGCTCCTGGCCCAGGTTCGTGGCTCTCGC
GTTCCCCGGGGTCTGGGCCTGCGCCGGCGGCGGGGCGTCTTCCACCCAGTGATGTGGCGATGCCTCCCGGGCTCATGGYGGAATGTCGGGTCGGCTTCGC
GCTGGGCCCACGGCCTCCTCCCGGTGAGACGCCCTCAGGGCTCCCMCATCTCAGCGCCCGGGACGCCGCAGCCATCTCGGTGGGCTGAAGGGAAGTAAGA
TTCTTGCAGAGGGCGCCTGCCCCAGAAAACAAATTTCATGTACAGGTTTCAAAGAGGCCAAGACGTCCGTGGCTTCCTTCAGGAGAAAGCGGCAAAACCC
ACGCCCAGATCCGTTGTGCTTTCAGCTTTTCACCAGGAAACTCARTTTTCTATGTAAGAGCAAGCGAGTTCCACAGCGCGGGGAGGCCAGTGGAGAGGAG
CGCGGCCTTGCCTGGCTCATGTCCTGTTTCCAGCTTGCCCTGAAAACGAATTACTAAATCCATGGAGGAAGAGCTTGGGGCCTGCCTGGTCCTCGGCCAC
GGTGGGGCTGGGGCCTGTGACTGCGTGTGCAGAGGGTCCGCGCCCAGGGCCCGGGAAAGGGGCTGCGCTGCCCCGAGCGAGTCCCCGGGCGCCCCCAGCC
TGCTGCAGCCACCTCGGGCTCCACATTTCGGCCCCTTCTCCTCTCCGCTGCTCTGGGCTCAGCCACCAAGCTCCACGCTGTGGGCAGAATCCACTTCTGC
TGCGACTCAGCTGTGGTAGGGGCCAAGTTTGGGTGTGTGAGGCCAGGGAGGTGCGTTGTGTTCTCGCGGAAGAGAGAGACGCAGCGAGGGAGCCCGGGCA
CACGGACCCAGCTCACCAACCGCAGCCAAACCACCAATTCTGTCCCGTGGCCCTTGGTGACCGGTGACAGGGAGGGAAGGAAACGTGGCCAGCTTCCGCC
AGACCACAGGCGAACACAGGTGGGGCGGCCCACTGGCTTGGGCCTAGGAGCTGCAGGAGCAGGGGCCACGGTCCAGCCTGACGCCCCTCTCTTGGGGCAG
GAAGTTCCCTCTGTCTGCCATGAGCAGGGGCACTTGGGAGGGCCCAGCATAGGACCTCAGGAGCTCCCGGAGCAGCCTCAGCAGCCGCAACCCCTCGACC
TTGTCCAGCATCACGCCCCGGTGCCAGGGAGACAGACCGAAGAATCCCACCACTGTGCAGGAGAGGAAGCCTACTTTAATTCTGTTCTTGAAGTAATGGC
AGGTGAAGATTCGTATGTCATAATTAATTCCTCACTTCTTAGGAATCGCAGCGATTAGCTCTGTCATTCCTTTGTTATCAGAGAGAACTGTGAGTCCTGT
TATTCTCACTGCTTCGCCATCTGTGAGCATGCGCAGCCCTCGGCTAAGTTTTCTAAAAGGAACATCACAGCGACTTCCCTGACCTCAGCCAGGACAAAAG
GTGAAGTCTAGCACGACGACCCGTGCAGCCTGCATGGCTGGAGGCCCTCCCTTCCCGGTCTCTGGGCACAGGTGCGGGGCCGTGCGCGCGCGTGCGCCTC
CACGGTTCCTCCGGGCACAGGTGCGGGAGCTGCGCGCGTGCGTGCTCCTCCAGGGTTCCTCCGGGCACGGGTGCGGGGCCGTGCGCGTGCGTGCGCCTCC
ACGGGTCCTCCGGGCACAGGTGCGGGGCCGTGCGCGTGCTTGCGCCTCCATGGTTCCTCCGGGCACAGGTGTGGGGCCGTGCGCGTGCGTGCGCCTCCAC
GGTTCCTCCGAGCACAGGTGCGGGGCTGTGCTCGGAGCGCCTCCAGGTTCCTCTGGGCACAGGTGCAGGGCCGTGCACCAAGTGCCTCCACGGTTCCTGT
GAAGGAGTGCGATGGCCCTGTAATTTTTGTCCTCAGCTCCGGTTTACCACAGCTTAGGCCTTTGGGGTCATTTTAAAGTAGTAAAGAAGCTTGAAAGGT

Protein Sequence    (SEQ ID NO:821):
MEEELGACLVLGHGGAGACDCVCRGSAPRARERGCAAPSESPGAPSLLQPPRAPHFGPFSSPLLWAQPPSSTLWAESTSAATQLW


SNP Information

Context             (SEQ ID NO:3272):
GGCCCAGGTTCGTGGCTCTCGCGTTCCCCGGGGTCTGGGCCTGCGCCGGCGGCGGGGCGTCTTCCACCCAGTGATGTGGCGATGCCTCCCGGGCTCATGG
Y
GGAATGTCGGGTCGGCTTCGCGCTGGGCCCACGGCCTCCTCCCGGTGAGACGCCCTCAGGGCTCCCCCATCTCAGCGCCCGGGACGCCGCAGCCATCTCG
Celera SNP ID:            hCV25744806
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,35|T,5)   total(C,67|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:821, 93, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:3273):
GGTTTCAAAGAGGCCAAGACGTCCGTGGCTTCCTTCAGGAGAAAGCGGCAAAACCCACGCCCAGATCCGTTGTGCTTTCAGCTTTTCACCAGGAAACTCA
R
TTTTCTATGTAAGAGCAAGCGAGTTCCACAGCGCGGGGAGGCCAGTGGAGAGGAGCGCGGCCTTGCCTGGCTCATGTCCTGTTTCCAGCTTGCCCTGAAA
Celera SNP ID:            hCV25745844
SNP Position Transcript:  545
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,30)   caucasian(A,27|G,11)   total(A,31|G,41)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:821, 182, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,29|G,11)   total(A,33|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:821, 182, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:3274):
CCAGTGATGTGGCGATGCCTCCCGGGCTCATGGGGGAATGTCGGGTCGGCTTCGCGCTGGGCCCACGGCCTCCTCCCGGTGAGACGCCCTCAGGGCTCCC
M
CATCTCAGCGCCCGGGACGCCGCAGCCATCTCGGTGGGCTGAAGGGAAGTAAGATTCTTGCAGAGGGCGCCTGCCCCAGAAAACAAATTTCATGTACAGG
Celera SNP ID:            hCV25744889
SNP Position Transcript:  346
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(A,2|C,36)   total(A,3|C,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:821, 116, (S,AGC)   (R,CGC)   



Gene Number:                 57
Celera Gene:                 hCG1781369 - 104000116855886
Celera Transcript:           hCT2296880 - 104000116855887
Public Transcript Accession: NM_016134
Celera Protein:              hCP1850036 - 197000069353170
Public Protein Accession:    NP_057218
Gene Symbol:                 PGCP
Protein Name:                plasma glutamate carboxypeptidase
Celera Genomic Axis:         GA_x5YUV32W2RH(11043573..11307331)
Chromosome:                  Chr8
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:125):
CTTCTTCTCTCAAGTCCTCACACAGGTATTCAGGAATACCAGGATGGYGTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGT
CAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATACTGATTCCTTCAACACTGTAGCAGAGATCAC
TGGGAGCAAATATCCAGAACAGGTTGTACTGGTCAGTGGACATCTGGACAGCTGGGATGTTGGGCAGGGTGCCATGGATGATGGCGGTGGAGCCTTTATA
TCATGGGAAGCACTCTCACTTATTAAAGATCTTGGGCTGCGTCCAAAGAGGACTCTGCGGCTGGTGCTCTGGACTGCAGAAGAACAAGGTGGAGTTGGTG
CCTTCCAGTATTATCAGTTACACAAGGTAAATATTTCCAACTACAGTCTGGTGATGGAGTCTGACGCAGGAACCTTCTTACCCACTGGGCTGCAATTCAC
TGGCAGTGAAAAGGCCAGGGCCATCATGGAGGAGGTTATGAGCCTGCTGCAGCCCCTCAATATCACTCAGGTCCTGAGCCATGGAGAAGGGACAGACATC
AACTTTTGGATCCAAGCTGGAGTGCCTGGAGCCAGTCTACTTGATGACTTATACAAGTATTTCTTCTTCCATCACTCCCACGGAGACACCATGACTGTCA
TGGATCCAAAGCAGATGAATGTTGCTGCTGCTGTTTGGGCTGTTGTTTCTTATGTTGTTGCAGACATGGAAGAAATGCTGCCTAGGTCCTAGAAACAGTA
AGAAAGAAACGTTTTCATGCTTCTGGCCAGGAATCCTGGGTCTGCAACTTTGGAAAACTCCTCTTCACATAACAATTTCATCCAATTCATCTTCAAAGCA
CAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCCMCCACATAG
AATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCMCTTTAAAAGTAAACACTTAATAAATTTTTGGA
AGATCTCTGATTTTTATGTGTTCATT

Protein Sequence    (SEQ ID NO:822):
MMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGAMDDGGGAFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGG
VGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLNITQVLSHGEGTDINFWIQAGVPGASLLDDLYKYFFFHHSHGDTM
TVMDPKQMNVAAAVWAVVSYVVADMEEMLPRS


SNP Information

Context             (SEQ ID NO:3275):
CTTCTTCTCTCAAGTCCTCACACAGGTATTCAGGAATACCAGGATGG
Y
GTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGG
Celera SNP ID:            hCV25637838
SNP Position Transcript:  48
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:822, None



Context             (SEQ ID NO:3276):
AGGAATCATTCTCCCCTCCCTCCCACCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCC
M
CTTTAAAAGTAAACACTTAATAAATTTTTGGAAGATCTCTGATTTTTATGTGTTCATT
Celera SNP ID:            hCV7532628
SNP Position Transcript:  1068
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:822, None   



Context             (SEQ ID NO:3277):
TTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCC
M
CCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCACTTTAAAAGTAAACACTTAATAAA
Celera SNP ID:            hCV7532629
SNP Position Transcript:  992
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:822, None   



Gene Number:                 57
Celera Gene:                 hCG1781369 - 104000116855886
Celera Transcript:           hCT1820235 - 104000116855896
Public Transcript Accession: NM_016134
Celera Protein:              hCP1723574 - 197000069353171
Public Protein Accession:    NP_057218
Gene Symbol:                 PGCP
Protein Name:                plasma glutamate carboxypeptidase
Celera Genomic Axis:         GA_x5YUV32W2RH(10896085..11307331)
Chromosome:                  Chr8
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:126):
TGAAAAATGCATTTTAGTTTCCTCAGCATTCACAATGTAGAACCTTCCAGAGAAGCTTTCTTTTCTTTCTGGCATCTGGATAAATGGAGGAATAGCACGA
AGCGATGAAATTCCTTATCTTCGCATTTTTCGGTGGTGTTCACCTTTTATCCCTGTGCTCTGGGAAAGCTATATGCAAGAATGGCATCTCTAAGAGGACT
TTTGAAGAARTAAAAGAAGAAATAGCCAGCTGTGGAGATGTTGCTAAAGCAATCATCAACCTAGCTGTTTATGGTAAAGCCCAGAACAGATCCTATGAGC
GATTGGCACTTCTGGTTGATACTGTTGGACCCAGACTGAGTGGCTCCAAGAACCTAGAAAAAGCCATCCAAATTATGTACCAAAACCTGCAGCAAGATGG
GCTGGAGAAAGTTCACCTGGAGCCAGTGAGAATMCCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATC
CTGGGTCTTGGCAGCARCATTGGGACTCCTCCAGAAGGCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAG
CAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGTKGGGGC
TTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGGYGTGCCCAAGATTCCAACAGCC
TGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATA
CTGATTCCTTCAACACTGTAGCAGAGATCACTGGGAGCAAATATCCAGAACAGGTTGTACTGGTCAGTGGACATCTGGACAGCTGGGATGTTGGGCAGGG
TGCCATGGATGATGGCGGTGGAGCCTTTATATCATGGGAAGCACTCTCACTTATTAAAGATCTTGGGCTGCGTCCAAAGAGGACTCTGCGGCTGGTGCTC
TGGACTGCAGAAGAACAAGGTGGAGTTGGTGCCTTCCAGTATTATCAGTTACACAAGGTAAATATTTCCAACTACAGTCTGGTGATGGAGTCTGACGCAG
GAACCTTCTTACCCACTGGGCTGCAATTCACTGGCAGTGAAAAGGCCAGGGCCATCATGGAGGAGGTTATGAGCCTGCTGCAGCCCCTCAATATCACTCA
GGTCCTGAGCCATGGAGAAGGGACAGACATCAACTTTTGGATCCAAGCTGGAGTGCCTGGAGCCAGTCTACTTGATGACTTATACAAGTATTTCTTCTTC
CATCACTCCCACGGAGACACCATGACTGTCATGGATCCAAAGCAGATGAATGTTGCTGCTGCTGTTTGGGCTGTTGTTTCTTATGTTGTTGCAGACATGG
AAGAAATGCTGCCTAGGTCCTAGAAACAGTAAGAAAGAAACGTTTTCATGCTTCTGGCCAGGAATCCTGGGTCTGCAACTTTGGAAAACTCCTCTTCACA
TAACAATTTCATCCAATTCATCTTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAG
GAATCATTCTCCCCTCCCTCCCMCCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCMC
TTTAAAAGTAAACACTTAATAAATTTTTGGAAGATCTCTGATTTTTATGTGTTCATT

Protein Sequence    (SEQ ID NO:823):
MKFLIFAFFGGVHLLSLCSGKAICKNGISKRTFEEIKEEIASCGDVAKAIINLAVYGKAQNRSYERLALLVDTVGPRLSGSKNLEKAIQIMYQNLQQDGL
EKVHLEPVRIPHWERGEESAVMLEPRIHKIAILGLGSSIGTPPEGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGAL
ASLIRSVASFSIYSPHTGIQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGA
MDDGGGAFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGGVGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLNITQV
LSHGEGTDINFWIQAGVPGASLLDDLYKYFFFHHSHGDTMTVMDPKQMNVAAAVWAVVSYVVADMEEMLPRS


SNP Information

Context             (SEQ ID NO:3278):
TGGAAGCTGCCAAGGTGGGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGG
Y
GTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGG
Celera SNP ID:            hCV25637838
SNP Position Transcript:  779
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:823, 225, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:3279):
CTGGAGCCAGTGAGAATACCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCA
R
CATTGGGACTCCTCCAGAAGGCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTT
Celera SNP ID:            hCV25743044
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:823, 138, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3280):
CAGAAGCAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGT
K
GGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGGCGTGCCCAAGATTCCAA
Celera SNP ID:            hCV2045911
SNP Position Transcript:  695
SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,14)   caucasian(G,10|T,22)   total(G,32|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:823, 197, (V,GTG)   (V,GTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,5)      total(G,5|T,2) ;JBIC-allele(G,273|T,1206)   total(G,273|T,1206)no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:823, 197, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:3281):
AGGAATCATTCTCCCCTCCCTCCCACCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCC
M
CTTTAAAAGTAAACACTTAATAAATTTTTGGAAGATCTCTGATTTTTATGTGTTCATT
Celera SNP ID:            hCV7532628
SNP Position Transcript:  1799
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:823, None   



Context             (SEQ ID NO:3282):
TTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCC
M
CCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCACTTTAAAAGTAAACACTTAATAAA
Celera SNP ID:            hCV7532629
SNP Position Transcript:  1723
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:823, None   



Context             (SEQ ID NO:3283):
GACTGAGTGGCTCCAAGAACCTAGAAAAAGCCATCCAAATTATGTACCAAAACCTGCAGCAAGATGGGCTGGAGAAAGTTCACCTGGAGCCAGTGAGAAT
M
CCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCAGCATTGGGACTCCTCCAG
Celera SNP ID:            hCV25769613
SNP Position Transcript:  434
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,14)   total(A,45|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:823, 110, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:3284):
ATTCCTTATCTTCGCATTTTTCGGTGGTGTTCACCTTTTATCCCTGTGCTCTGGGAAAGCTATATGCAAGAATGGCATCTCTAAGAGGACTTTTGAAGAA
R
TAAAAGAAGAAATAGCCAGCTGTGGAGATGTTGCTAAAGCAATCATCAACCTAGCTGTTTATGGTAAAGCCCAGAACAGATCCTATGAGCGATTGGCACT
Celera SNP ID:            hCV25770539
SNP Position Transcript:  210
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,38)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:823, 36, (I,ATA)   (V,GTA)   



Gene Number:                 57
Celera Gene:                 hCG1781369 - 104000116855886
Celera Transcript:           hCT2296879 - 104000116855908
Public Transcript Accession: NM_016134
Celera Protein:              hCP1850038 - 197000069353172
Public Protein Accession:    NP_057218
Gene Symbol:                 PGCP
Protein Name:                plasma glutamate carboxypeptidase
Celera Genomic Axis:         GA_x5YUV32W2RH(10808821..11307331)
Chromosome:                  Chr8
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:127):
CTCGGGACCCAGGGCGACACTCAATTTTCTAACAGGAGCCACAGCCCAGAAGCTGAGAAGCCTTCCGGCCGATCTGTGGCCCTGAGGTCGCCCTTGGAGG
GCGAGTGAGAACCCCCCAGGCGTTCCGGAGGTGGCSCCCAGCCCGAACCCGGCGCCCGCCCCGGCTTCCCGAGTCAGGTCTTTGCCCCGCCTCTCGGCCC
CGCGGCCTGGCCGGCAAGCAGGGCTGCAGTCACGGGGCGGCGCGGAGGGCCCCAGCCCAGTCAGGGGTGTGGCCGCCGCCACCGTAAGGCTAGGCCGCGA
GCTTAGTCCTGGGAGCCGCCTCCGTCGCCGCCGTCAGAGCCGCCCTATCAGATTATCTTAACAAGAAAACCAACTGGAAAAAAAAATGAAATTCCTTATC
TTCGCATTTTTCGGTGGTGTTCACCTTTTATCCCTGTGCTCTGGGAAAGCTATATGCAAGAATGGCATCTCTAAGAGGACTTTTGAAGAARTAAAAGAAG
AAATAGCCAGCTGTGGAGATGTTGCTAAAGCAATCATCAACCTAGCTGTTTATGGTAAAGCCCAGAACAGATCCTATGAGCGATTGGCACTTCTGGTTGA
TACTGTTGGACCCAGACTGAGTGGCTCCAAGAACCTAGAAAAAGCCATCCAAATTATGTACCAAAACCTGCAGCAAGATGGGCTGGAGAAAGTTCACCTG
GAGCCAGTGAGAATMCCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCARCA
TTGGGACTCCTCCAGAAGGCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTTGT
TTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGTKGGGGCTTTGGCATCTCTCATTCGA
TCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGGYGTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATG
CAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATACTGATTCCTTCAACACTGT
AGCAGAGATCACTGGGAGCAAATATCCAGAACAGGTTGTACTGGTCAGTGGACATCTGGACAGCTGGGATGTTGGGCAGGGTGCCATGGATGATGGCGGT
GGAGCCTTTATATCATGGGAAGCACTCTCACTTATTAAAGATCTTGGGCTGCGTCCAAAGAGGACTCTGCGGCTGGTGCTCTGGACTGCAGAAGAACAAG
GTGGAGTTGGTGCCTTCCAGTATTATCAGTTACACAAGGTAAATATTTCCAACTACAGTCTGGTGATGGAGTCTGACGCAGGAACCTTCTTACCCACTGG
GCTGCAATTCACTGGCAGTGAAAAGGCCAGGGCCATCATGGAGGAGGTTATGAGCCTGCTGCAGCCCCTCAATATCACTCAGGTCCTGAGCCATGGAGAA
GGGACAGACATCAACTTTTGGATCCAAGCTGGAGTGCCTGGAGCCAGTCTACTTGATGACTTATACAAGTATTTCTTCTTCCATCACTCCCACGGAGACA
CCATGACTGTCATGGATCCAAAGCAGATGAATGTTGCTGCTGCTGTTTGGGCTGTTGTTTCTTATGTTGTTGCAGACATGGAAGAAATGCTGCCTAGGTC
CTAGAAACAGTAAGAAAGAAACGTTTTCATGCTTCTGGCCAGGAATCCTGGGTCTGCAACTTTGGAAAACTCCTCTTCACATAACAATTTCATCCAATTC
ATCTTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCT
CCCMCCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCMCTTTAAAAGTAAACACTTAA
TAAATTTTTGGAAGATCTCTGATTTTTATGTGTTCATT

Protein Sequence    (SEQ ID NO:824):
MKFLIFAFFGGVHLLSLCSGKAICKNGISKRTFEEIKEEIASCGDVAKAIINLAVYGKAQNRSYERLALLVDTVGPRLSGSKNLEKAIQIMYQNLQQDGL
EKVHLEPVRIPHWERGEESAVMLEPRIHKIAILGLGSSIGTPPEGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGAL
ASLIRSVASFSIYSPHTGIQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGA
MDDGGGAFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGGVGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLNITQV
LSHGEGTDINFWIQAGVPGASLLDDLYKYFFFHHSHGDTMTVMDPKQMNVAAAVWAVVSYVVADMEEMLPRS


SNP Information

Context             (SEQ ID NO:3285):
TGGAAGCTGCCAAGGTGGGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGG
Y
GTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGG
Celera SNP ID:            hCV25637838
SNP Position Transcript:  1060
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:824, 225, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:3286):
CTGGAGCCAGTGAGAATACCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCA
R
CATTGGGACTCCTCCAGAAGGCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTT
Celera SNP ID:            hCV25743044
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:824, 138, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3287):
CAGAAGCAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGT
K
GGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTCAGGAATACCAGGATGGCGTGCCCAAGATTCCAA
Celera SNP ID:            hCV2045911
SNP Position Transcript:  976
SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,14)   caucasian(G,10|T,22)   total(G,32|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:824, 197, (V,GTG)   (V,GTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,5)      total(G,5|T,2) ;JBIC-allele(G,273|T,1206)   total(G,273|T,1206)no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:824, 197, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:3288):
GAGCCACAGCCCAGAAGCTGAGAAGCCTTCCGGCCGATCTGTGGCCCTGAGGTCGCCCTTGGAGGGCGAGTGAGAACCCCCCAGGCGTTCCGGAGGTGGC
S
CCCAGCCCGAACCCGGCGCCCGCCCCGGCTTCCCGAGTCAGGTCTTTGCCCCGCCTCTCGGCCCCGCGGCCTGGCCGGCAAGCAGGGCTGCAGTCACGGG
Celera SNP ID:            hCV16270445
SNP Position Transcript:  136
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:824, None   



Context             (SEQ ID NO:3289):
AGGAATCATTCTCCCCTCCCTCCCACCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCC
M
CTTTAAAAGTAAACACTTAATAAATTTTTGGAAGATCTCTGATTTTTATGTGTTCATT
Celera SNP ID:            hCV7532628
SNP Position Transcript:  2080
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:824, None   



Context             (SEQ ID NO:3290):
TTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCC
M
CCACATAGAATCAACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCACTTTAAAAGTAAACACTTAATAAA
Celera SNP ID:            hCV7532629
SNP Position Transcript:  2004
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:824, None   



Context             (SEQ ID NO:3291):
GACTGAGTGGCTCCAAGAACCTAGAAAAAGCCATCCAAATTATGTACCAAAACCTGCAGCAAGATGGGCTGGAGAAAGTTCACCTGGAGCCAGTGAGAAT
M
CCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCAGCATTGGGACTCCTCCAG
Celera SNP ID:            hCV25769613
SNP Position Transcript:  715
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,14)   total(A,45|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:824, 110, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:3292):
ATTCCTTATCTTCGCATTTTTCGGTGGTGTTCACCTTTTATCCCTGTGCTCTGGGAAAGCTATATGCAAGAATGGCATCTCTAAGAGGACTTTTGAAGAA
R
TAAAAGAAGAAATAGCCAGCTGTGGAGATGTTGCTAAAGCAATCATCAACCTAGCTGTTTATGGTAAAGCCCAGAACAGATCCTATGAGCGATTGGCACT
Celera SNP ID:            hCV25770539
SNP Position Transcript:  491
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,38)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:824, 36, (I,ATA)   (V,GTA)   



Gene Number:                 58
Celera Gene:                 hCG1783364 - 30000041553740
Celera Transcript:           hCT1822302 - 30000041553745
Public Transcript Accession: 
Celera Protein:              hCP1716228 - 30000041553753
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W3E9(4434205..4437280)
Chromosome:                  ChrX
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:128):
CTAAGAACTGAACAGGATATTGGTGGTGTCCATCGTGGGCAGCAGACTAATAAAGGCCATGGCACCAGCAGAAATCCTGAACAGGAAGGAGATCTCCGCA
CAAATAAGGGCGAGACTGAAGAATCAAGTCACTCAGTTGAAGGACAAGTACCTGGTTTCACACCAGGCCTGGCAATATTACAGGTTGGCAACAGAGATGA
TTCCAATCTTTATATAATGTGAAGCTGAAGGCTGCTGAAGAGATTGGGATGAAAGCCACTGACATTAAGTTACCAAGAACAACCACAGAATCTGAGGTGA
TCAAGTACATCATATCTTTGAATGAAGACTCTACTGTACACRGGTTCGTAGTGCAGCTATCTCTAGACTCAGACAATACACTGAAGGAGTGATCAATGCT
ATTGCACCTGAAAAGGATGTGGATGGATTGACTAGCATCAGTGCTGGGAAACTTGCTAGAGGTGACCTAAATGACTGTTTCATTCCTTGTATGCCTAAAG
GATGCTTGGAACTCATGAAAGAGACAGGGGTGCAGATTGCCAGAAGGCATGCTGTGGTGGTTGGGTGCAGTAAAATAGTCAGGGCCCTGATGYGTGACTT
GCTTCTGTGGAACAATGCCACAGTGACCACCTGCCACTCCAAGACTGCCAATCTGGATGAGGAGGTAAATAAAGGCGACATCCTGGTGGTTGCAACTGGT
YGGCCTGAAATGGTTAAAGGGGAATGGATCAAACCTAGCAATAGTCATCAACTGTGGAATCAATTATGTCCCAGATGATAAAAAAAACAAATGGGAGAAA
AGTTGTGGGTGATGTGGCATACGACGAGGCCCGTTCCTGGTGGCTTAGGGCTCATGACGGTTGCAATGCTCATGCAGAGCACTGTAGAGAGTGCCAAGCR
TTTCCTGGAGAAATTTAAGCCAGGAAAGTGGATGATTCAGTATAACAACCTTAACCTCAAGACACCTGTTCCAAGTGACATTGATATATCACGATCTTGT
AAACCGAAGCCCATTGGTAAGCTGGCTTGAGTAATTGGTCTGCTGTCTGAAGAGGTAGAATTATATGGTGAAACAAAGGCCAAAGTTCTGCTGTCAGCAC
TAGAACGCCTGAAGCACCAGCCTGTTGGGAAATATCAGGTGGTGACTGGAATAACTCCAACACCCCTGGGAGAAGGGAAAAGCACGACTACAATCGGGCT
GGTGCAAGCCCTTCTTGCCCATCTTTACCAGAACTTTTTTATGTGTGTGCGACAGCCTTCTCAGGGCCCCACCTTTGGAATAAAAGGTGGTGTTGCAGGA
GGCGGCTACTCCCAGGTCATTCCTATGGAAGAGTTTAATCTTCACCTCACAGGTGACATCCATGCCATCACTGTATCTAATAACCTTGTTGCTGCGGCTA
TTGATGCTCAGATATTTCATGAACTGACCCAGACAGACAAGGCTACCTTTACTCATTTGGTGCCATCAGTAAATGGAGTGAGAAAGTTCTCTGATATCCA
CATACAAAGGTTAAACAGACTAGGCATTGACAAGACTGACTCTACCACACTGACAGATGAAGAGATAAACAGATTTGCAAGATTGGACATTGATCCAGAA
ACCATAGCTTGGCAAAGAGTGTTGAATACCAATGATAGATTCCTGAGGAAGATCACGATTGGACAGGCTCCAACGAAGAAAAGTCACACACAGACGGTCC
ACTTTGATATCTCTGTGGCCAGTGAAATTATGGCTGTCCTGGCTCTCACCACTTCTCTAGAAGACAGGAGAGAGAGACTGGGCAAAATGGTGGTGGCATC
CAGTAAGAAAGGAGACCCCGTCAGTGCTGAAGATCTGGGGGTGAGTGGTGCATTGATAGTGCTTATGAAGGACACAATCAAGCCCAATCTCATGCAGAGA
TTGGAGGGCACTCCAGTGTTTGTCCATGCAGGCCCATTTGCCAWCATCGCACACGGCAATTCCTCTATCATTGCAGACCGGATCACACTCTAGCTTGTTG
GCCCAGAAGGGTTTGTAGTGACGGAGGCGGGATTTGGAGCAGACATTGGAATAGAAAAGTTTCTTAACATCAAATCCCAGTATTCCGGTCTCCACCCTCA
CGTGGTGGTGCTTGTTGCCACTGTCAGCRCTCTAAAGATGCACAGGGGTGGCCCTATGGTCACTGCTGGAATGCCTCTTCCCAAGGCTTACATAGAGGAG
AACCTGGAGCTGGTTGAAAAAGKCTTCAGTAACTTGAAGAAACAAACTGAAAATGCCAGAATGTTTGGAATTCCAGTAGTAGTGGCCGTGAATGCATTCA
AGAYAGATACAGAGACTGAGCTGGACCTCATCGGCTGCCTTTCCAGAGAACAGAGGGCTTTTGATGCCGTGAAGTGCACTCACTGGCAGAAGGGGGCAAG
GGTACCTTAGCCCTGGCTCAGGCTGTCCAGAGAGCAGGACAAGCACCCAGCAGCTTCCAACTCCTTTATGACCTCAAGCTCCCAGTTGAGGATAAAATCA
GGATCATTGCACAGAAGATCTATGGAGCAGACAACATTGAATTACTCCTCAAAGCTCAACACAAAGCTGAAGTCTACACAAAGCAGGGCTTTGGGAATCT
CCCCATCTGCATGGCCAAAACACACTTGTCCTTGTCTCACAACCCAGAGCGAAAAGGTGTCCCTACAGGATTCATTCTGCCCATTCGCAACATCCATGCC
ARCATCGGGGCTGGTTTTCTGTACCCTTTAGTAGGAACGATGAGCACAATGGACTCCCCACCCAGCCCTGTTTTTATGATACTGATTTGGACCCTGAAAC
AGAACAGGTGAATGGATCATTCTAAACAGATCATCATCCATCTTCAAGAAGCTACTTTGAAAATCTGGCCAGTGTCTATTCAGGCCCACTGGGAGTTAGG
AAGTATAAGGCAGCCAAGAGTCAGCCCCTGCCCAGAAGATCTGAAACTAATAGTAGGAGTTTTCCCGGATGTCATTTTCAGCCTTAATTCTCATCGTGTA
TAAATTAACATAAATCATGCACATGTCTATTTACGTTAGTGACGTTCCACAGAATAAAAGGAAATAGTTTTGCCA

Protein Sequence    (SEQ ID NO:825):
VIGLLSEEVELYGETKAKVLLSALERLKHQPVGKYQVVTGITPTPLGEGKSTTTIGLVQALLAHLYQNFFMCVRQPSQGPTFGIKGGVAGGGYSQVIPME
EFNLHLTGDIHAITVSNNLVAAAIDAQIFHELTQTDKATFTHLVPSVNGVRKFSDIHIQRLNRLGIDKTDSTTLTDEEINRFARLDIDPETIAWQRVLNT
NDRFLRKITIGQAPTKKSHTQTVHFDISVASEIMAVLALTTSLEDRRERLGKMVVASSKKGDPVSAEDLGVSGALIVLMKDTIKPNLMQRLEGTPVFVHA
GPFANIAHGNSSIIADRITL


SNP Information

Context             (SEQ ID NO:3293):
GGGATTTGGAGCAGACATTGGAATAGAAAAGTTTCTTAACATCAAATCCCAGTATTCCGGTCTCCACCCTCACGTGGTGGTGCTTGTTGCCACTGTCAGC
R
CTCTAAAGATGCACAGGGGTGGCCCTATGGTCACTGCTGGAATGCCTCTTCCCAAGGCTTACATAGAGGAGAACCTGGAGCTGGTTGAAAAAGGCTTCAG
Celera SNP ID:            hCV25745205
SNP Position Transcript:  2129
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,14)   caucasian(A,21|G,5)   total(A,23|G,19)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:825, None



Context             (SEQ ID NO:3294):
GCCTAAAGGATGCTTGGAACTCATGAAAGAGACAGGGGTGCAGATTGCCAGAAGGCATGCTGTGGTGGTTGGGTGCAGTAAAATAGTCAGGGCCCTGATG
Y
GTGACTTGCTTCTGTGGAACAATGCCACAGTGACCACCTGCCACTCCAAGACTGCCAATCTGGATGAGGAGGTAAATAAAGGCGACATCCTGGTGGTTGC
Celera SNP ID:            hCV26649571
SNP Position Transcript:  593
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,6)      total(C,6|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3295):
GCTTCTGTGGAACAATGCCACAGTGACCACCTGCCACTCCAAGACTGCCAATCTGGATGAGGAGGTAAATAAAGGCGACATCCTGGTGGTTGCAACTGGT
Y
GGCCTGAAATGGTTAAAGGGGAATGGATCAAACCTAGCAATAGTCATCAACTGTGGAATCAATTATGTCCCAGATGATAAAAAAAACAAATGGGAGAAAA
Celera SNP ID:            hCV15850923
SNP Position Transcript:  701
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3296):
AAGTTGTGGGTGATGTGGCATACGACGAGGCCCGTTCCTGGTGGCTTAGGGCTCATGACGGTTGCAATGCTCATGCAGAGCACTGTAGAGAGTGCCAAGC
R
TTTCCTGGAGAAATTTAAGCCAGGAAAGTGGATGATTCAGTATAACAACCTTAACCTCAAGACACCTGTTCCAAGTGACATTGATATATCACGATCTTGT
Celera SNP ID:            hCV27531941
SNP Position Transcript:  900
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3297):
CCCATCTGCATGGCCAAAACACACTTGTCCTTGTCTCACAACCCAGAGCGAAAAGGTGTCCCTACAGGATTCATTCTGCCCATTCGCAACATCCATGCCA
R
CATCGGGGCTGGTTTTCTGTACCCTTTAGTAGGAACGATGAGCACAATGGACTCCCCACCCAGCCCTGTTTTTATGATACTGATTTGGACCCTGAAACAG
Celera SNP ID:            hCV26649557
SNP Position Transcript:  2702
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,14)      total(G,14|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3298):
CTGGAGCTGGTTGAAAAAGGCTTCAGTAACTTGAAGAAACAAACTGAAAATGCCAGAATGTTTGGAATTCCAGTAGTAGTGGCCGTGAATGCATTCAAGA
Y
AGATACAGAGACTGAGCTGGACCTCATCGGCTGCCTTTCCAGAGAACAGAGGGCTTTTGATGCCGTGAAGTGCACTCACTGGCAGAAGGGGGCAAGGGTA
Celera SNP ID:            hCV26649559
SNP Position Transcript:  2304
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3299):
GATTGGGATGAAAGCCACTGACATTAAGTTACCAAGAACAACCACAGAATCTGAGGTGATCAAGTACATCATATCTTTGAATGAAGACTCTACTGTACAC
R
GGTTCGTAGTGCAGCTATCTCTAGACTCAGACAATACACTGAAGGAGTGATCAATGCTATTGCACCTGAAAAGGATGTGGATGGATTGACTAGCATCAGT
Celera SNP ID:            hCV28028193
SNP Position Transcript:  342
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:825, None   



Context             (SEQ ID NO:3300):
GTCAGCGCTCTAAAGATGCACAGGGGTGGCCCTATGGTCACTGCTGGAATGCCTCTTCCCAAGGCTTACATAGAGGAGAACCTGGAGCTGGTTGAAAAAG
K
CTTCAGTAACTTGAAGAAACAAACTGAAAATGCCAGAATGTTTGGAATTCCAGTAGTAGTGGCCGTGAATGCATTCAAGACAGATACAGAGACTGAGCTG
Celera SNP ID:            hCV25747385
SNP Position Transcript:  2223
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(G,25|T,9)   total(G,61|T,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:825, None



Context             (SEQ ID NO:3301):
AGTGGTGCATTGATAGTGCTTATGAAGGACACAATCAAGCCCAATCTCATGCAGAGATTGGAGGGCACTCCAGTGTTTGTCCATGCAGGCCCATTTGCCA
W
CATCGCACACGGCAATTCCTCTATCATTGCAGACCGGATCACACTCTAGCTTGTTGGCCCAGAAGGGTTTGTAGTGACGGAGGCGGGATTTGGAGCAGAC
Celera SNP ID:            hCV27899206
SNP Position Transcript:  1944
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:825, 235, (N,AAC)   (I,ATC)      



Gene Number:                 59
Celera Gene:                 hCG1783650 - 206000045554792
Celera Transcript:           hCT1822595 - 206000045554794
Public Transcript Accession: 
Celera Protein:              hCP1740083 - 206000045554795
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(45021139..45093450)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:129):
CCGGCCGGTCCCACATTCCACGCGAGCTGAATTCCCGCCCGCATCCCGCCCGGGCAGCAGGGATTGCCGGCTCCGGGAGGCGCTCGGGCTCCGAGAAGCG
GCTCAGCCCCGCGCCCCTCCCTCCTCAGTACCGCTGCCGGCGGACCAGGATTCCCGCGGGTCCTGGCGGCTGCGAGCGCGAGGCGGCGCGGATTCGCGGC
TCGGTTCCGGCGCGACTGCTCACCGCGCCCGCCTCGCCTCCCGCGGCTGCCAGCGTGCACTGGGCGCTCCTCGGCGCGTCTGCCCGGCCCGTCTCGGCTT
TCCTTCTCCTTCCTCTAGTCCCAGCGTCACAACTCCGCCGACCTCCTCTGCCCTGAGAGCGCGTCCGGTGCGGGCGGAGTCGGACGGACTCTGGCTTCAC
GCCTCGCGCGGGCACACCTTCTCCCGGGCACTGAGGCCCAGTTATTAGGGGAGGCAGAGTCCTTCTGGAGTTTGACCCTTGGATTCCAYCCAGAGCAGCC
TCCAAAATGACACCTTTGAAGTTGTGTATCGAGCTGGGGGATGTAAAGGGAGGAGAAGAAAGAAGATGAAGAGATACCAGCCAGCCTTAAGGAGTGGACA
TCCTGCCTGGTGAAACTGAACAAGACACCTACCGCATATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCT
CCACCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGAGCCCTCTCCCACCGCTCCTACACTGCTGGTAAAAGGCAGC
CGCACTGCCTGCTGGAAGACCTGCCAGCTTGGGCTTCAGAGCACTTCTGCCTCAGATCCACGACGATCCCTTCTGWCATCGTGGGACCTTTCCTGGGATT
TGATTTAGGGCGACGCTTCCTCCTGTCTGTGTCCTGAGTCCTGCCTTCCCTGGCTGGTCCTCTTTGCTTAGTCACCCAGATCATTCCCAGACAGCTGCGC
CCTGGATATGGCTCCTCTCATGTGCTGCCTGGAAATGTCTCCTCTCTTCTCACCTGCTGAGAGGTCCTTCTGGGCAGGGACTCGGGCAGATTCATTCCTG
CCTGCCCCACATTTCCCTAGCCCAGGGCCTGGCCYGTTGCAGTGCTGAAGGATGATTCTGGTAAGAAACAAGGTACTCCAGCTCACATCTTGCAATGATT
ATGCCTCCCCCACTCTCCCTTCTCCTTGCAGTTCTCTCTCTTCACTGATGATTTTGGATGCAATTTAAAATAAAAATATTGATTAA

Protein Sequence    (SEQ ID NO:826):
RPVPHSTRAEFPPASRPGSRDCRLREALGLREAAQPRAPPSSVPLPADQDSRGSWRLRARGGADSRLGSGATAHRARLASRGCQRALGAPRRVCPARLGF
PSPSSSPSVTTPPTSSALRARPVRAESDGLWLHASRGHTFSRALRPSY


SNP Information

Context             (SEQ ID NO:3302):
CTCTGGCTTCACGCCTCGCGCGGGCACACCTTCTCCCGGGCACTGAGGCCCAGTTATTAGGGGAGGCAGAGTCCTTCTGGAGTTTGACCCTTGGATTCCA
Y
CCAGAGCAGCCTCCAAAATGACACCTTTGAAGTTGTGTATCGAGCTGGGGGATGTAAAGGGAGGAGAAGAAAGAAGATGAAGAGATACCAGCCAGCCTTA
Celera SNP ID:            hCV1848942
SNP Position Transcript:  489
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:826, None   



Context             (SEQ ID NO:3303):
TCCTACACTGCTGGTAAAAGGCAGCCGCACTGCCTGCTGGAAGACCTGCCAGCTTGGGCTTCAGAGCACTTCTGCCTCAGATCCACGACGATCCCTTCTG
W
CATCGTGGGACCTTTCCTGGGATTTGATTTAGGGCGACGCTTCCTCCTGTCTGTGTCCTGAGTCCTGCCTTCCCTGGCTGGTCCTCTTTGCTTAGTCACC
Celera SNP ID:            hCV25928842
SNP Position Transcript:  876
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,33)   caucasian(T,32)   total(A,1|T,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:826, None



Context             (SEQ ID NO:3304):
ATGTCTCCTCTCTTCTCACCTGCTGAGAGGTCCTTCTGGGCAGGGACTCGGGCAGATTCATTCCTGCCTGCCCCACATTTCCCTAGCCCAGGGCCTGGCC
Y
GTTGCAGTGCTGAAGGATGATTCTGGTAAGAAACAAGGTACTCCAGCTCACATCTTGCAATGATTATGCCTCCCCCACTCTCCCTTCTCCTTGCAGTTCT
Celera SNP ID:            hCV27517644
SNP Position Transcript:  1135
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:826, None   



Gene Number:                 60
Celera Gene:                 hCG1785397 - 104000117710481
Celera Transcript:           hCT1966868 - 104000117710489
Public Transcript Accession: NM_000623
Celera Protein:              hCP1780618 - 197000069391029
Public Protein Accession:    NP_000614
Gene Symbol:                 BDKRB2
Protein Name:                bradykinin receptor B2;B2R;BK-2;BK2;BKR2;BRB2
Celera Genomic Axis:         GA_x5YUV32W0QP(43481405..43521039)
Chromosome:                  Chr14
OMIM number:                 113503
OMIM Information:            BRADYKININ RECEPTOR B2;BDKRB2


Transcript Sequence (SEQ ID NO:130):
CTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGGKGACGGTGGGGACATCAGGCTGCCCCG
CAGTACCAGGGAGCGACTGAAGTGCCCATGCCGCTTGCTCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCCACTCTGAGTCCAAATGTTCTCTCCCT
GGAAGATATCAATGTTTCTGTCTGTTYGTGAGGACTCCGTGCCCACCACGGCCTCTTTCAGCGCCGACATGCTCAATGTCACCTTGCAAGGGCCCACTCT
TAACGGGACCTTTGCCCAGAGCAAATGCCCCCAAGTGGAGTGGCTGGGCTGGCTCAACACCATCCAGCCCCCCTTCCTCTGGGTGCTGTTCGTGCTGGCC
ACCCTAGAGAACATCTTTGTCCTCAGCGTCTTCTGCCTGCACAAGAGCAGCTGCACGGTGGCAGAGATCTACCTGGGGAACCTGGCCGCAGCAGACCTGA
TCCTGGCCTGCGGGCTGCCCTTCTGGGCCATCACCATCTCCAACAACTTCGACTGGCTCTTTGGGGAGACGCTCTGCCGCGTGGTGAATGCCATTATCTC
CATGAACCTGTACAGCAGCATCTGTTTCCTGATGCTGGTGAGCATCGACCGCTACCTGGCCCTGGTGAAAACCATGTCCATGGGCCGGATGCGCGGCGTG
CGCTGGGCCAAGCTCTACAGCTTGGTGATCTGGGGGTGTACGCTGCTCCTGAGCTCACCCATGCTGGTGTTCCGGACCATGAAGGAGTACAGCGATGAGG
GCCACAACGTCACCGCTTGTGTCATCAGCTACCCATCCCTCATCTGGGAAGTGTTCACCAACATGCTCCTGAATGTCGTGGGCTTCCTGCTGCCCCTGAG
TGTCATCACCTTCTGCACGATGCAGATCATGCAGGTGCTGCGGAACAACGAGATGCAGAAGTTCAAGGAGATCCAGACRGAGAGGAGGGCCACGGTGCTA
GTCCTGGTTGTGCTGCTGCTATTCATCATCTGCTGGCTGCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCCTCGGCATCCTCTCCAGCTGCC
AGGACGAGCGCATCATCGAYGTAATCACACAGATCGCCTCCTTCATGGCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCG
CTTCCGAAAGAAGTCTTGGGAGGTGTACCAGGGAGTGTGCCAGAAAGRGGGCTGCAGGTCAGAACCCATTCAGATGGAGAACTCCATGGGCACACTGCGG
ACCTCCATCTCCGTGGAACGCCAGATTCACAAACTGCAGGACTGGGCAGGGAGCAGACAGTGAGCAAACGCCAGCAGGGCTGCTGTGAATTTGTGTAAGG
ATTGAGGGACAGTTGCTTTTCAGCATGGGCCCAGGAATGCCAAGGAGACATCTATGCACGACCTTGGGAAATGAGTTGATGTCTCCGGTAAAACACCGGA
GACTAATTCCTGCCCTGCCCAATTTTGCAGGGAGCATGGCTGTGAGGATGGGGTGAACTCACGCACAGCCAAGGACTCCAAAATCACAACAGCATTACTG
TTCTTATTTGCTGCCACACCTGAGCCAGCCTGCTCCTTCCCAGGAGTGGAGGAGGCCTGGGGGCAGGGAGAGGAGTGACTGAGCTTCCCTCCCGTGTGTT
CTCCGTCCCTGCCCCAGCAAGACAACTTAGATCTCCAGGAGAACYGCCATCCAGCTTTGGTGCAATGGCTGAGTGCACAAGTGAGTTGTTGCCCTGGGTT
TCTTTAATCTATTCAGCTAGAACTTTGAAGGACAATTTCTTGCATTAATAAAGGTTAAGCCCTGAGGGGTCCCTGATAACAACCTGGAGACCAGGATTTT
ATGGCTCCCCTCACTGATGGACAAGGAGGTCTGTGCCAAAGAAGAATCCAATAAGCACATATTGAGCACTTGCTGTATATGCAGTATTGAGCACTGTAGG
CAAGAGGGAAGAAAGAGAAGGAGCCATCTCCATCTTGAAGGAACTCAAAGACTCAAGTGGGAACRACTGGGCACTGCCACCACCAGAAAGCTGTTCGACG
AGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGCAGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCAYCTGTCCCTGCC
TCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGRTTAAARGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGC
ATCWTTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAGKTCTAGAAATAGCTCCRTGGAGCAGAATCAGTATTGGGAGCCGGTGG
CGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCACCTGTCATTCCCACCACCCTGAGGCCCCAACCRCCACACACACAGG
AGCATTTGGAGAGAAGGCCATGTCTTCAAAGTCTGATTTGTGATGAGGCAGAGGAAGATATTTCTAATCGGTCTTGCCCAGAGGATCACAGTGCTGAGAC
CCCCCACCACCAGCCGGTACCTGGGAAGGGGGAGAGTGCAGGCCTGCTCAGGGACTGTTCCTGTCTCAGCAACCAAGGGATTGTTCCTGTCAATCAATGG
TTTATTGGAAGGTGGCCCAGTATGAGCCCTAGAAGAGTGTGAAAAGGAATGRCAATGGTGTTCACCATCGGCAGTGCCAGGGCAGCACTCATTCACTTGA
TAAATGAATATTTATTAGCTGGTTGGAGAGCTAGAACCTGGAGAGCTAGAACCTGGAGAACTAGAACCTGGAGGGCTAGAACCTGGAGAGGCTAGAACCA
AGAAGGGCTAGAACCTGGAGGGGCTAGAACCTAGAGAAGCTAAAACCTGAGCTAGAAGCTGGAGGACTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAG
AACCTGGAGGGCTAGAACCTGGAGGGCTAGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGA
GCTAGAACCTAGAAGGGCTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAGAACCTAGAAGGGCTAGAAC
CTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAGAACCTAGAAGGGCTAGAACCTGGAGGGCTAGAACCTGGCAGGT
TAGAACCTAGAAGGGCTAGAACCTGGAGAGCCAGAACCTGGAGGGCTAGAACCTGGAAGGGCTAGAACCTGTAGAGCTAGAACATGGAGAGCTAGAACCC
GGCAGGCTAGAACCTGGCAAGCTAGAACCTGGAGGGAATGAACCTGGAGGGCTAGAACCTGGAGAATGAGAAAAATTTACATGGCAAAGAGCCCATAAAT
CCTGACCAATCCAACTCTGAATTTTAAAGCAAAAGCGTSAAAAAAAAGATTCCCTCCTTACCCCCAACCCACTCTTTTTTCCCACCACCCACTCTCCTCT
GCCTCAGTAAGTATCTGGAGGAAGAAAACAGGTGAAAGAAGAAGTAAAAACCATTTAGTATTAGTATTAGAATGAAGTCAAACTGTGCCACACATGGTGA
ATGAAAAAAAAAAAAAGAGGCTGTGTTTTGTCACACAGGGCAGTCATTCAGCACCAGAGCACGTGATGGTCTGAGACTCTCTTAGGAGCAGAGCTCTGCC
GCAATGGCCATGTGGGGATCCACACCTGGTCTGAGGGGCAACTGAGTCTGCGGGAGAAGAGCGGCCCTATGCATGGTGTAGATGCCCTGATAAAGAACAT
CTGTCCTGTGAAAGACTCAATGAGCTGTTATGTTGTAAACAGGAAGCATTTCACATCCAAACGAGAAAATCATGTAAACATGTGTCTTTTCTGTAGAGCA
TAATAAATGGATGAGGTTTTTGCATAGCTCTAGCATTTGTTACAACTCCCGAAACCCCCGAGTTTGGTCCCTGGGGTACCGCCTTGCACACTCAGAAGCC
TTTGGGAAGGGGTGCTATTCATTTCTGCTCAATCTGTTAACAGGCTTCTGGCATGTAGATCAGTGGTCTCCAAGCTTTTGTGATTGTATATTCCTATAGG
AAAAAAAGAATTGATTATGCATACCCRGTATGTATACTTATTAATCTGTATGAAGATGTACATTCTAAAATATAATCAACCAGTAGAAATTTAAGAAAGA
AGATGTAAAAAA

Protein Sequence    (SEQ ID NO:827):
MFSPWKISMFLSVREDSVPTTASFSADMLNVTLQGPTLNGTFAQSKCPQVEWLGWLNTIQPPFLWVLFVLATLENIFVLSVFCLHKSSCTVAEIYLGNLA
AADLILACGLPFWAITISNNFDWLFGETLCRVVNAIISMNLYSSICFLMLVSIDRYLALVKTMSMGRMRGVRWAKLYSLVIWGCTLLLSSPMLVFRTMKE
YSDEGHNVTACVISYPSLIWEVFTNMLLNVVGFLLPLSVITFCTMQIMQVLRNNEMQKFKEIQTERRATVLVLVVLLLFIICWLPFQISTFLDTLHRLGI
LSSCQDERIIDVITQIASFMAYSNSCLNPLVYVIVGKRFRKKSWEVYQGVCQKGGCRSEPIQMENSMGTLRTSISVERQIHKLQDWAGSRQ


SNP Information

Context             (SEQ ID NO:3305):
CAGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCACCTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGG
R
TTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAA
Celera SNP ID:            hCV15859427
SNP Position Transcript:  2238
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,44)   PGA-EUR(EAN-PANEL(A,2|G,44)   total(G,88|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3306):
CATGCCGCTTGCTCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCCACTCTGAGTCCAAATGTTCTCTCCCTGGAAGATATCAATGTTTCTGTCTGTT
Y
GTGAGGACTCCGTGCCCACCACGGCCTCTTTCAGCGCCGACATGCTCAATGTCACCTTGCAAGGGCCCACTCTTAACGGGACCTTTGCCCAGAGCAAATG
Celera SNP ID:            hCV7565899
SNP Position Transcript:  227
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,3)   total(C,39|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:827, 14, (R,CGT)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;PGA-AFRICAN-PANEL(T,3|C,41)   PGA-EUR(EAN-PANEL(T,8|C,38)   total(C,79|T,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:827, 14, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:3307):
GGACTGTTCCTGTCTCAGCAACCAAGGGATTGTTCCTGTCAATCAATGGTTTATTGGAAGGTGGCCCAGTATGAGCCCTAGAAGAGTGTGAAAAGGAATG
R
CAATGGTGTTCACCATCGGCAGTGCCAGGGCAGCACTCATTCACTTGATAAATGAATATTTATTAGCTGGTTGGAGAGCTAGAACCTGGAGAGCTAGAAC
Celera SNP ID:            hCV1772900
SNP Position Transcript:  2752
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;JBIC-allele(A,136|G,1359)   total(G,1359|A,136)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3308):
GTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATC
W
TTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAGGTCTAGAAATAGCTCCGTGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGT
Celera SNP ID:            hCV11469530
SNP Position Transcript:  2304
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,4)      total(A,4|T,4) ;PGA-AFRICAN-PANEL(T,10|A,38)   PGA-EUR(EAN-PANEL(T,12|A,34)   total(A,72|T,22)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3309):
AGCACTTGCTGTATATGCAGTATTGAGCACTGTAGGCAAGAGGGAAGAAAGAGAAGGAGCCATCTCCATCTTGAAGGAACTCAAAGACTCAAGTGGGAAC
R
ACTGGGCACTGCCACCACCAGAAAGCTGTTCGACGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGCAGAAGGGGGAGACCAAGGTTCCAGCTC
Celera SNP ID:            hCV11664563
SNP Position Transcript:  2065
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)PGA-AFRICAN-PANEL(A,2|G,46)   total(G,46|A,2)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3310):
TGAACCTGGAGGGCTAGAACCTGGAGAATGAGAAAAATTTACATGGCAAAGAGCCCATAAATCCTGACCAATCCAACTCTGAATTTTAAAGCAAAAGCGT
S
AAAAAAAAGATTCCCTCCTTACCCCCAACCCACTCTTTTTTCCCACCACCCACTCTCCTCTGCCTCAGTAAGTATCTGGAGGAAGAAAACAGGTGAAAGA
Celera SNP ID:            hCV7565923
SNP Position Transcript:  3539
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3311):
TATTCATCATCTGCTGGCTGCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCCTCGGCATCCTCTCCAGCTGCCAGGACGAGCGCATCATCGA
Y
GTAATCACACAGATCGCCTCCTTCATGGCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCGCTTCCGAAAGAAGTCTTGGG
Celera SNP ID:            hCV16172279
SNP Position Transcript:  1120
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:827, 311, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3312):
CTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGG
K
GACGGTGGGGACATCAGGCTGCCCCGCAGTACCAGGGAGCGACTGAAGTGCCCATGCCGCTTGCTCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCC
Celera SNP ID:            hCV26351339
SNP Position Transcript:  74
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(G,17|T,51)      total(G,17|T,51) ;HYP2(G,17|T,51)   total(G,17|T,51)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3313):
AGTGGAGGAGGCCTGGGGGCAGGGAGAGGAGTGACTGAGCTTCCCTCCCGTGTGTTCTCCGTCCCTGCCCCAGCAAGACAACTTAGATCTCCAGGAGAAC
Y
GCCATCCAGCTTTGGTGCAATGGCTGAGTGCACAAGTGAGTTGTTGCCCTGGGTTTCTTTAATCTATTCAGCTAGAACTTTGAAGGACAATTTCTTGCAT
Celera SNP ID:            hCV11664567
SNP Position Transcript:  1745
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(C,6|T,61)      total(C,6|T,61) ;PGA-AFRICAN-PANEL(C,6|T,42)   PGA-EUR(EAN-PANEL(C,1|T,43)   total(C,7|T,85)   HYP2(C,7|T,61)   total(C,7|T,61) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3314):
TGGGCTTCCTGCTGCCCCTGAGTGTCATCACCTTCTGCACGATGCAGATCATGCAGGTGCTGCGGAACAACGAGATGCAGAAGTTCAAGGAGATCCAGAC
R
GAGAGGAGGGCCACGGTGCTAGTCCTGGTTGTGCTGCTGCTATTCATCATCTGCTGGCTGCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCC
Celera SNP ID:            hCV11664568
SNP Position Transcript:  979
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,9|G,29)   total(A,9|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:827, 264, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,18)   caucasian(A,9|G,27)   total(A,9|G,45)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:827, 264, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,9|G,27)   total(A,9|G,57)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:827, 264, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,14|G,133)      total(G,133|A,14) ;JBIC-allele(A,278|G,1029)   total(G,1029|A,278)   no_pop(A,-|G,-)   HYP3(A,15|G,133)   total(G,133|A,15) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:827, 264, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:3315):
AGCTGTTCGACGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGCAGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCA
Y
CTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGT
Celera SNP ID:            hCV15969680
SNP Position Transcript:  2189
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   PGA-EUR(EAN-PANEL(T,4|C,42)   total(C,42|T,4)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3316):
GCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCGCTTCCGAAAGAAGTCTTGGGAGGTGTACCAGGGAGTGTGCCAGAAAG
R
GGGCTGCAGGTCAGAACCCATTCAGATGGAGAACTCCATGGGCACACTGCGGACCTCCATCTCCGTGGAACGCCAGATTCACAAACTGCAGGACTGGGCA
Celera SNP ID:            hCV16175292
SNP Position Transcript:  1248
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:827, 354, (E,GAG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:827, 354, (E,GAG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,2|G,44)   total(G,44|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:827, 354, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:3317):
GGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCACCTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAA
R
GCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAA
Celera SNP ID:            hCV16175285
SNP Position Transcript:  2244
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,3|G,45)   total(G,45|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3318):
GCTCAATCTGTTAACAGGCTTCTGGCATGTAGATCAGTGGTCTCCAAGCTTTTGTGATTGTATATTCCTATAGGAAAAAAAGAATTGATTATGCATACCC
R
GTATGTATACTTATTAATCTGTATGAAGATGTACATTCTAAAATATAATCAACCAGTAGAAATTTAAGAAAGAAGATGTAAAAAA
Celera SNP ID:            hCV15859407
SNP Position Transcript:  4227
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,1|A,41)   total(G,1|A,41) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3319):
TTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCACCTGTCATTCCCACCACCCTGAGGCCCCAACC
R
CCACACACACAGGAGCATTTGGAGAGAAGGCCATGTCTTCAAAGTCTGATTTGTGATGAGGCAGAGGAAGATATTTCTAATCGGTCTTGCCCAGAGGATC
Celera SNP ID:            hCV15859415
SNP Position Transcript:  2487
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3320):
AAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAGGTCTAGAAATAGCTCC
R
TGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCACCTGTCATTCCCACCA
Celera SNP ID:            hCV15859416
SNP Position Transcript:  2370
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,44)   PGA-EUR(EAN-PANEL(A,2|G,44)   total(G,88|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Context             (SEQ ID NO:3321):
GGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAG
K
TCTAGAAATAGCTCCGTGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCA
Celera SNP ID:            hCV15859417
SNP Position Transcript:  2354
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|G,44)   PGA-EUR(EAN-PANEL(T,2|G,44)   total(G,88|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:827, None   



Gene Number:                 60
Celera Gene:                 hCG1785397 - 104000117710481
Celera Transcript:           hCT1824399 - 104000117710482
Public Transcript Accession: NM_000623
Celera Protein:              hCP1735661 - 197000069391028
Public Protein Accession:    NP_000614
Gene Symbol:                 BDKRB2
Protein Name:                bradykinin receptor B2;B2R;BK-2;BK2;BKR2;BRB2
Celera Genomic Axis:         GA_x5YUV32W0QP(43481343..43521039)
Chromosome:                  Chr14
OMIM number:                 113503
OMIM Information:            BRADYKININ RECEPTOR B2;BDKRB2


Transcript Sequence (SEQ ID NO:131):
CAGAGCTCAGCTGGAGGCGGAGGGGGAAGTGCYCAGGAGGCTGATGACATCAYTACCCAGCCCTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCT
GGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGGKGACGGTGGGGACATCAGGCTGCCCCGCAGTACCAGGGAGCGACTGAAGTGCCCATGCCGCTTGC
TCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCCACTCTGAGTCCAAATGTTCTCTCCCTGGAAGATATCAATGTTTCTGTCTGTTYGTGAGGACTCC
GTGCCCACCACGGCCTCTTTCAGCGCCGACATGCTCAATGTCACCTTGCAAGGGCCCACTCTTAACGGGACCTTTGCCCAGAGCAAATGCCCCCAAGTGG
AGTGGCTGGGCTGGCTCAACACCATCCAGCCCCCCTTCCTCTGGGTGCTGTTCGTGCTGGCCACCCTAGAGAACATCTTTGTCCTCAGCGTCTTCTGCCT
GCACAAGAGCAGCTGCACGGTGGCAGAGATCTACCTGGGGAACCTGGCCGCAGCAGACCTGATCCTGGCCTGCGGGCTGCCCTTCTGGGCCATCACCATC
TCCAACAACTTCGACTGGCTCTTTGGGGAGACGCTCTGCCGCGTGGTGAATGCCATTATCTCCATGAACCTGTACAGCAGCATCTGTTTCCTGATGCTGG
TGAGCATCGACCGCTACCTGGCCCTGGTGAAAACCATGTCCATGGGCCGGATGCGCGGCGTGCGCTGGGCCAAGCTCTACAGCTTGGTGATCTGGGGGTG
TACGCTGCTCCTGAGCTCACCCATGCTGGTGTTCCGGACCATGAAGGAGTACAGCGATGAGGGCCACAACGTCACCGCTTGTGTCATCAGCTACCCATCC
CTCATCTGGGAAGTGTTCACCAACATGCTCCTGAATGTCGTGGGCTTCCTGCTGCCCCTGAGTGTCATCACCTTCTGCACGATGCAGATCATGCAGGTGC
TGCGGAACAACGAGATGCAGAAGTTCAAGGAGATCCAGACRGAGAGGAGGGCCACGGTGCTAGTCCTGGTTGTGCTGCTGCTATTCATCATCTGCTGGCT
GCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCCTCGGCATCCTCTCCAGCTGCCAGGACGAGCGCATCATCGAYGTAATCACACAGATCGCC
TCCTTCATGGCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCGCTTCCGAAAGAAGTCTTGGGAGGTGTACCAGGGAGTGT
GCCAGAAAGRGGGCTGCAGGTCAGAACCCATTCAGATGGAGAACTCCATGGGCACACTGCGGACCTCCATCTCCGTGGAACGCCAGATTCACAAACTGCA
GGACTGGGCAGGGAGCAGACAGTGAGCAAACGCCAGCAGGGCTGCTGTGAATTTGTGTAAGGATTGAGGGACAGTTGCTTTTCAGCATGGGCCCAGGAAT
GCCAAGGAGACATCTATGCACGACCTTGGGAAATGAGTTGATGTCTCCGGTAAAACACCGGAGACTAATTCCTGCCCTGCCCAATTTTGCAGGGAGCATG
GCTGTGAGGATGGGGTGAACTCACGCACAGCCAAGGACTCCAAAATCACAACAGCATTACTGTTCTTATTTGCTGCCACACCTGAGCCAGCCTGCTCCTT
CCCAGGAGTGGAGGAGGCCTGGGGGCAGGGAGAGGAGTGACTGAGCTTCCCTCCCGTGTGTTCTCCGTCCCTGCCCCAGCAAGACAACTTAGATCTCCAG
GAGAACYGCCATCCAGCTTTGGTGCAATGGCTGAGTGCACAAGTGAGTTGTTGCCCTGGGTTTCTTTAATCTATTCAGCTAGAACTTTGAAGGACAATTT
CTTGCATTAATAAAGGTTAAGCCCTGAGGGGTCCCTGATAACAACCTGGAGACCAGGATTTTATGGCTCCCCTCACTGATGGACAAGGAGGTCTGTGCCA
AAGAAGAATCCAATAAGCACATATTGAGCACTTGCTGTATATGCAGTATTGAGCACTGTAGGCAAGAGGGAAGAAAGAGAAGGAGCCATCTCCATCTTGA
AGGAACTCAAAGACTCAAGTGGGAACRACTGGGCACTGCCACCACCAGAAAGCTGTTCGACGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGC
AGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCAYCTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGR
TTAAARGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCWTTACGCAGACGTAACTGGGATATGTTTACTATAA
GGAAAAGACACTGAGKTCTAGAAATAGCTCCRTGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCT
CATTGGCTCCCTTCCACCTGTCATTCCCACCACCCTGAGGCCCCAACCRCCACACACACAGGAGCATTTGGAGAGAAGGCCATGTCTTCAAAGTCTGATT
TGTGATGAGGCAGAGGAAGATATTTCTAATCGGTCTTGCCCAGAGGATCACAGTGCTGAGACCCCCCACCACCAGCCGGTACCTGGGAAGGGGGAGAGTG
CAGGCCTGCTCAGGGACTGTTCCTGTCTCAGCAACCAAGGGATTGTTCCTGTCAATCAATGGTTTATTGGAAGGTGGCCCAGTATGAGCCCTAGAAGAGT
GTGAAAAGGAATGRCAATGGTGTTCACCATCGGCAGTGCCAGGGCAGCACTCATTCACTTGATAAATGAATATTTATTAGCTGGTTGGAGAGCTAGAACC
TGGAGAGCTAGAACCTGGAGAACTAGAACCTGGAGGGCTAGAACCTGGAGAGGCTAGAACCAAGAAGGGCTAGAACCTGGAGGGGCTAGAACCTAGAGAA
GCTAAAACCTGAGCTAGAAGCTGGAGGACTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAGAATCTGGA
GAGCTAGAACCTGGAGGGCTAGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGAGCTAGAACCTAGAAGGGCTAGAACCTGGAGGGCTGGAA
TCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAGAACCTAGAAGGGCTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGGAGGG
CTAGAACCTGGAGGGCTAGAACCTAGAAGGGCTAGAACCTGGAGGGCTAGAACCTGGCAGGTTAGAACCTAGAAGGGCTAGAACCTGGAGAGCCAGAACC
TGGAGGGCTAGAACCTGGAAGGGCTAGAACCTGTAGAGCTAGAACATGGAGAGCTAGAACCCGGCAGGCTAGAACCTGGCAAGCTAGAACCTGGAGGGAA
TGAACCTGGAGGGCTAGAACCTGGAGAATGAGAAAAATTTACATGGCAAAGAGCCCATAAATCCTGACCAATCCAACTCTGAATTTTAAAGCAAAAGCGT
SAAAAAAAAGATTCCCTCCTTACCCCCAACCCACTCTTTTTTCCCACCACCCACTCTCCTCTGCCTCAGTAAGTATCTGGAGGAAGAAAACAGGTGAAAG
AAGAAGTAAAAACCATTTAGTATTAGTATTAGAATGAAGTCAAACTGTGCCACACATGGTGAATGAAAAAAAAAAAAAGAGGCTGTGTTTTGTCACACAG
GGCAGTCATTCAGCACCAGAGCACGTGATGGTCTGAGACTCTCTTAGGAGCAGAGCTCTGCCGCAATGGCCATGTGGGGATCCACACCTGGTCTGAGGGG
CAACTGAGTCTGCGGGAGAAGAGCGGCCCTATGCATGGTGTAGATGCCCTGATAAAGAACATCTGTCCTGTGAAAGACTCAATGAGCTGTTATGTTGTAA
ACAGGAAGCATTTCACATCCAAACGAGAAAATCATGTAAACATGTGTCTTTTCTGTAGAGCATAATAAATGGATGAGGTTTTTGCATAGCTCTAGCATTT
GTTACAACTCCCGAAACCCCCGAGTTTGGTCCCTGGGGTACCGCCTTGCACACTCAGAAGCCTTTGGGAAGGGGTGCTATTCATTTCTGCTCAATCTGTT
AACAGGCTTCTGGCATGTAGATCAGTGGTCTCCAAGCTTTTGTGATTGTATATTCCTATAGGAAAAAAAGAATTGATTATGCATACCCRGTATGTATACT
TATTAATCTGTATGAAGATGTACATTCTAAAATATAATCAACCAGTAGAAATTTAAGAAAGAAGATGTAAAAAA

Protein Sequence    (SEQ ID NO:828):
MFSPWKISMFLSVREDSVPTTASFSADMLNVTLQGPTLNGTFAQSKCPQVEWLGWLNTIQPPFLWVLFVLATLENIFVLSVFCLHKSSCTVAEIYLGNLA
AADLILACGLPFWAITISNNFDWLFGETLCRVVNAIISMNLYSSICFLMLVSIDRYLALVKTMSMGRMRGVRWAKLYSLVIWGCTLLLSSPMLVFRTMKE
YSDEGHNVTACVISYPSLIWEVFTNMLLNVVGFLLPLSVITFCTMQIMQVLRNNEMQKFKEIQTERRATVLVLVVLLLFIICWLPFQISTFLDTLHRLGI
LSSCQDERIIDVITQIASFMAYSNSCLNPLVYVIVGKRFRKKSWEVYQGVCQKGGCRSEPIQMENSMGTLRTSISVERQIHKLQDWAGSRQ


SNP Information

Context             (SEQ ID NO:3322):
CAGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCACCTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGG
R
TTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAA
Celera SNP ID:            hCV15859427
SNP Position Transcript:  2300
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,44)   PGA-EUR(EAN-PANEL(A,2|G,44)   total(G,88|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3323):
CATGCCGCTTGCTCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCCACTCTGAGTCCAAATGTTCTCTCCCTGGAAGATATCAATGTTTCTGTCTGTT
Y
GTGAGGACTCCGTGCCCACCACGGCCTCTTTCAGCGCCGACATGCTCAATGTCACCTTGCAAGGGCCCACTCTTAACGGGACCTTTGCCCAGAGCAAATG
Celera SNP ID:            hCV7565899
SNP Position Transcript:  289
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,3)   total(C,39|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:828, 14, (R,CGT)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;PGA-AFRICAN-PANEL(T,3|C,41)   PGA-EUR(EAN-PANEL(T,8|C,38)   total(C,79|T,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:828, 14, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:3324):
GGACTGTTCCTGTCTCAGCAACCAAGGGATTGTTCCTGTCAATCAATGGTTTATTGGAAGGTGGCCCAGTATGAGCCCTAGAAGAGTGTGAAAAGGAATG
R
CAATGGTGTTCACCATCGGCAGTGCCAGGGCAGCACTCATTCACTTGATAAATGAATATTTATTAGCTGGTTGGAGAGCTAGAACCTGGAGAGCTAGAAC
Celera SNP ID:            hCV1772900
SNP Position Transcript:  2814
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;JBIC-allele(A,136|G,1359)   total(G,1359|A,136)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3325):
GTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATC
W
TTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAGGTCTAGAAATAGCTCCGTGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGT
Celera SNP ID:            hCV11469530
SNP Position Transcript:  2366
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,4)      total(A,4|T,4) ;PGA-AFRICAN-PANEL(T,10|A,38)   PGA-EUR(EAN-PANEL(T,12|A,34)   total(A,72|T,22)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3326):
CAGAGCTCAGCTGGAGGCGGAGGGGGAAGTGCCCAGGAGGCTGATGACATCA
Y
TACCCAGCCCTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGGGGACGGTGGGGACATCAG
Celera SNP ID:            hCV1772941
SNP Position Transcript:  53
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;Southern Germany(T,80|C,120)   Northern Ireland, France, Scotland(T,920|C,1080)      total(C,1080|T,920) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3327):
AGCACTTGCTGTATATGCAGTATTGAGCACTGTAGGCAAGAGGGAAGAAAGAGAAGGAGCCATCTCCATCTTGAAGGAACTCAAAGACTCAAGTGGGAAC
R
ACTGGGCACTGCCACCACCAGAAAGCTGTTCGACGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGCAGAAGGGGGAGACCAAGGTTCCAGCTC
Celera SNP ID:            hCV11664563
SNP Position Transcript:  2127
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(A,4|G,76)      total(G,76|A,4) ;HYP1(A,4|G,76)   total(G,76|A,4)PGA-AFRICAN-PANEL(A,2|G,46)   total(G,46|A,2)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3328):
TGAACCTGGAGGGCTAGAACCTGGAGAATGAGAAAAATTTACATGGCAAAGAGCCCATAAATCCTGACCAATCCAACTCTGAATTTTAAAGCAAAAGCGT
S
AAAAAAAAGATTCCCTCCTTACCCCCAACCCACTCTTTTTTCCCACCACCCACTCTCCTCTGCCTCAGTAAGTATCTGGAGGAAGAAAACAGGTGAAAGA
Celera SNP ID:            hCV7565923
SNP Position Transcript:  3601
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3329):
TATTCATCATCTGCTGGCTGCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCCTCGGCATCCTCTCCAGCTGCCAGGACGAGCGCATCATCGA
Y
GTAATCACACAGATCGCCTCCTTCATGGCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCGCTTCCGAAAGAAGTCTTGGG
Celera SNP ID:            hCV16172279
SNP Position Transcript:  1182
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:828, 311, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3330):
GGAGGCTGATGACATCACTACCCAGCCCTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGG
K
GACGGTGGGGACATCAGGCTGCCCCGCAGTACCAGGGAGCGACTGAAGTGCCCATGCCGCTTGCTCCGGAGAAGCCCAGGTGTGGCCTCACTCACATCCC
Celera SNP ID:            hCV26351339
SNP Position Transcript:  136
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(G,17|T,51)      total(G,17|T,51) ;HYP2(G,17|T,51)   total(G,17|T,51)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3331):
AGTGGAGGAGGCCTGGGGGCAGGGAGAGGAGTGACTGAGCTTCCCTCCCGTGTGTTCTCCGTCCCTGCCCCAGCAAGACAACTTAGATCTCCAGGAGAAC
Y
GCCATCCAGCTTTGGTGCAATGGCTGAGTGCACAAGTGAGTTGTTGCCCTGGGTTTCTTTAATCTATTCAGCTAGAACTTTGAAGGACAATTTCTTGCAT
Celera SNP ID:            hCV11664567
SNP Position Transcript:  1807
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(C,6|T,61)      total(C,6|T,61) ;PGA-AFRICAN-PANEL(C,6|T,42)   PGA-EUR(EAN-PANEL(C,1|T,43)   total(C,7|T,85)   HYP2(C,7|T,61)   total(C,7|T,61) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3332):
TGGGCTTCCTGCTGCCCCTGAGTGTCATCACCTTCTGCACGATGCAGATCATGCAGGTGCTGCGGAACAACGAGATGCAGAAGTTCAAGGAGATCCAGAC
R
GAGAGGAGGGCCACGGTGCTAGTCCTGGTTGTGCTGCTGCTATTCATCATCTGCTGGCTGCCCTTCCAGATCAGCACCTTCCTGGATACGCTGCATCGCC
Celera SNP ID:            hCV11664568
SNP Position Transcript:  1041
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,9|G,29)   total(A,9|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:828, 264, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,18)   caucasian(A,9|G,27)   total(A,9|G,45)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:828, 264, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,9|G,27)   total(A,9|G,57)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:828, 264, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 40 Africans; 32 white Americans; 2 CEPH individuals(A,14|G,133)      total(G,133|A,14) ;JBIC-allele(A,278|G,1029)   total(G,1029|A,278)   no_pop(A,-|G,-)   HYP3(A,15|G,133)   total(G,133|A,15) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:828, 264, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:3333):
AGCTGTTCGACGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGACAGCAGAAGGGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCA
Y
CTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAAGGCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGT
Celera SNP ID:            hCV15969680
SNP Position Transcript:  2251
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   PGA-EUR(EAN-PANEL(T,4|C,42)   total(C,42|T,4)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3334):
CAGAGCTCAGCTGGAGGCGGAGGGGGAAGTGC
Y
CAGGAGGCTGATGACATCACTACCCAGCCCTTGAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGT
Celera SNP ID:            hCV7565890
SNP Position Transcript:  33
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): patients with cardiovascular diseases(T,1|C,182)      total(C,182|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3335):
GCCTACAGCAACAGCTGCCTCAACCCACTGGTGTACGTGATCGTGGGCAAGCGCTTCCGAAAGAAGTCTTGGGAGGTGTACCAGGGAGTGTGCCAGAAAG
R
GGGCTGCAGGTCAGAACCCATTCAGATGGAGAACTCCATGGGCACACTGCGGACCTCCATCTCCGTGGAACGCCAGATTCACAAACTGCAGGACTGGGCA
Celera SNP ID:            hCV16175292
SNP Position Transcript:  1310
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:828, 354, (E,GAG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:828, 354, (E,GAG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,2|G,44)   total(G,44|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:828, 354, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:3336):
GGGGAGACCAAGGTTCCAGCTCAACCAATAACTATTGCACAACCACCTGTCCCTGCCTCAGTTCCCTCTTCTGTAACATGAAGTCGTTGTGAGGGTTAAA
R
GCAGTAACAGGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAA
Celera SNP ID:            hCV16175285
SNP Position Transcript:  2306
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,3|G,45)   total(G,45|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3337):
TTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCACCTGTCATTCCCACCACCCTGAGGCCCCAACC
R
CCACACACACAGGAGCATTTGGAGAGAAGGCCATGTCTTCAAAGTCTGATTTGTGATGAGGCAGAGGAAGATATTTCTAATCGGTCTTGCCCAGAGGATC
Celera SNP ID:            hCV15859415
SNP Position Transcript:  2549
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3338):
GCTCAATCTGTTAACAGGCTTCTGGCATGTAGATCAGTGGTCTCCAAGCTTTTGTGATTGTATATTCCTATAGGAAAAAAAGAATTGATTATGCATACCC
R
GTATGTATACTTATTAATCTGTATGAAGATGTACATTCTAAAATATAATCAACCAGTAGAAATTTAAGAAAGAAGATGTAAAAAA
Celera SNP ID:            hCV15859407
SNP Position Transcript:  4289
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,1|A,41)   total(G,1|A,41) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3339):
AAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAGGTCTAGAAATAGCTCC
R
TGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCACCTGTCATTCCCACCA
Celera SNP ID:            hCV15859416
SNP Position Transcript:  2432
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,44)   PGA-EUR(EAN-PANEL(A,2|G,44)   total(G,88|A,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Context             (SEQ ID NO:3340):
GGTATAAAGTACTTAGAAAAGCAAAGGGTGCTACGTACATGTGAGGCATCATTACGCAGACGTAACTGGGATATGTTTACTATAAGGAAAAGACACTGAG
K
TCTAGAAATAGCTCCGTGGAGCAGAATCAGTATTGGGAGCCGGTGGCGGTGTGAAGCACCAGTGTCTGGCACACAGTAGGTGCTCATTGGCTCCCTTCCA
Celera SNP ID:            hCV15859417
SNP Position Transcript:  2416
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|G,44)   PGA-EUR(EAN-PANEL(T,2|G,44)   total(G,88|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:828, None   



Gene Number:                 61
Celera Gene:                 hCG17857 - 206000044635936
Celera Transcript:           hCT8911 - 206000044635938
Public Transcript Accession: NM_004550
Celera Protein:              hCP33762 - 206000044635913
Public Protein Accession:    NP_004541
Gene Symbol:                 NDUFS2
Protein Name:                NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Celera Genomic Axis:         GA_x5YUV32VSLS(226352..241447)
Chromosome:                  Chr1
OMIM number:                 602985
OMIM Information:            NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2;NDUFS2


Transcript Sequence (SEQ ID NO:132):
GGGACAGAGCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCACKGTCCTGGGAGAATTCCTGCTCTTATAGTCTA
ACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAGGGCTGAGGGGACTGAGTGAGCTGCCTGAGAA
AAGAGGGTAGGGAACAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGA
GTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCACTGTGCGAATAGGTGAGAAGCCAAGAAGGAGG
CGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGC
CCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAGTGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGG
GGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATTACCC
TGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCT
CCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAA
CAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGA
ACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGA
GCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCRGCMAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCT
AAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAG
AAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGA
GTTTGATGTTCCTGTTGGTTCTCRAGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTA
AACAAGATGSCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGACTTCCATGGAGTCACTGATTCATCACT
TTAAGTTGTATACTGAGGGCTACCAAGTTCCTCCAGGAGCCACATATACTGCCATTGAGGCTCCCAAGGGAGAGTTTGGGGTGTACCTGGTGTCTGATGG
CAGCAGCCGCCCTTATCGATGCAAGATCAAGGCTCCTGGTTTTGCYCATCTGGCTGGTTTGGACAAGATGTCTAAGGGACACATGTTGGCAGATGTCGTT
GCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCTYYTTCTGTGGAGCC
TGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGKATGTTCATGTACACTTGGCTGTCAGGCTTTCTGTGCATGTACTAA
AAAAGGAGAAATTATAATAAATTAGCCGTCTTGCGGCCCCTAGGCCTAAACTTCTG

Protein Sequence    (SEQ ID NO:829):
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVME
LSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPF
FWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAI
EAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR


SNP Information

Context             (SEQ ID NO:3341):
GGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTC
R
AGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTAAACAAGATGCCTCCTGGGGAGATC
Celera SNP ID:            hCV25653285
SNP Position Transcript:  1424
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:829, 323, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:3342):
GGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCTT
Y
TTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTCATGTACACTTGGCTGTCAGGCTTTCTG
Celera SNP ID:            hCV8721997
SNP Position Transcript:  1888
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:829, None   



Context             (SEQ ID NO:3343):
TGGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCT
Y
CTTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTCATGTACACTTGGCTGTCAGGCTTTCT
Celera SNP ID:            hCV8722001
SNP Position Transcript:  1887
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:829, None   



Context             (SEQ ID NO:3344):
ATACTGCCATTGAGGCTCCCAAGGGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTATCGATGCAAGATCAAGGCTCCTGGTTTTGC
Y
CATCTGGCTGGTTTGGACAAGATGTCTAAGGGACACATGTTGGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGT
Celera SNP ID:            hCV8722002
SNP Position Transcript:  1746
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,18|T,4)   total(C,47|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:829, 430, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,29|T,11)   total(C,64|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:829, 430, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,325|C,572)   total(C,572|T,325) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:829, 430, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:3345):
TCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTAAACAAGATG
S
CTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGACTTCCATGGAGTCACTGATTCATCACTTTAAGTTGTA
Celera SNP ID:            hCV156083
SNP Position Transcript:  1510
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,4)   total(G,1|C,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:829, 352, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:3346):
GGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCC
R
GCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTG
Celera SNP ID:            hCV27863178
SNP Position Transcript:  1139
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:829, 228, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:3347):
GAGCAGCGTTTGATCCCCCCTGCCTATCAGCTTCTTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
K
ATGTTCATGTACACTTGGCTGTCAGGCTTTCTGTGCATGTACTAAAAAAGGAGAAATTATAATAAATTAGCCGTCTTGCGGCCCCTAGGCCTAAACTTCT
Celera SNP ID:            hCV26627115
SNP Position Transcript:  1955
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|T,2|-,6)   total(G,2|-,6|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:829, None   



Context             (SEQ ID NO:3348):
GGGACAGAGCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCAC
K
GTCCTGGGAGAATTCCTGCTCTTATAGTCTAACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAG
Celera SNP ID:            hCV9243700
SNP Position Transcript:  69
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,6)      total(G,6|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:829, None   



Context             (SEQ ID NO:3349):
GCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGC
M
AGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTG
Celera SNP ID:            hCV27863179
SNP Position Transcript:  1142
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:829, 229, (Q,CAA)   (P,CCA)      



Gene Number:                 61
Celera Gene:                 hCG17857 - 206000044635936
Celera Transcript:           hCT2276604 - 206000044635944
Public Transcript Accession: NM_004550
Celera Protein:              hCP1859029 - 206000044635914
Public Protein Accession:    NP_004541
Gene Symbol:                 NDUFS2
Protein Name:                NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Celera Genomic Axis:         GA_x5YUV32VSLS(226352..243650)
Chromosome:                  Chr1
OMIM number:                 602985
OMIM Information:            NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2;NDUFS2


Transcript Sequence (SEQ ID NO:133):
AAGAAGGGGAGGAGAAGGGGACGCCACATCCCAGGGCTGCGGGAGCCCCAGAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGA
CCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGAGTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGC
TTCACTGTGCGAATAGGTGAGAAGCCAAGAAGGAGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGC
GCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAG
TGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGG
ACCCTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGG
GGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTT
GACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGA
TCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCT
GTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCRGCMAGGAGGAGTGCACCAGGACCTA
CCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAA
ATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCG
GAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCRAGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAG
ATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTAAACAAGATGSCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAG
AGATGAAGACTTCCATGGAGTCACTGATTCATCACTTTAAGTTGTATACTGAGGGCTACCAAGTTCCTCCAGGAGCCACATATACTGCCATTGAGGCTCC
CAAGGGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTATCGATGCAAGATCAAGGCTCCTGGTTTTGCYCATCTGGCTGGTTTGGAC
AAGATGTCTAAGGGACACATGTTGGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTT
TGATCCCCCCTGCCTATCAGCTYYTTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGKATGTTCATG
TACACTTGGCTGTCAGGCTTTCTGTGCATGTACTAAAAAAGGAGAAATTATAATAAATTAGCCGTCTTGCGGCCCCTAGGCCTAAACTTCTG

Protein Sequence    (SEQ ID NO:830):
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVME
LSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPF
FWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAI
EAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR


SNP Information

Context             (SEQ ID NO:3350):
GGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTC
R
AGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTAAACAAGATGCCTCCTGGGGAGATC
Celera SNP ID:            hCV25653285
SNP Position Transcript:  1260
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:830, 323, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:3351):
GGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCTT
Y
TTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTCATGTACACTTGGCTGTCAGGCTTTCTG
Celera SNP ID:            hCV8721997
SNP Position Transcript:  1724
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:830, None   



Context             (SEQ ID NO:3352):
TGGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCT
Y
CTTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTCATGTACACTTGGCTGTCAGGCTTTCT
Celera SNP ID:            hCV8722001
SNP Position Transcript:  1723
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:830, None   



Context             (SEQ ID NO:3353):
ATACTGCCATTGAGGCTCCCAAGGGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTATCGATGCAAGATCAAGGCTCCTGGTTTTGC
Y
CATCTGGCTGGTTTGGACAAGATGTCTAAGGGACACATGTTGGCAGATGTCGTTGCCATCATAGGTACCCAAGATATTGTATTTGGAGAAGTAGATCGGT
Celera SNP ID:            hCV8722002
SNP Position Transcript:  1582
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,18|T,4)   total(C,47|T,7)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:830, 430, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,29|T,11)   total(C,64|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:830, 430, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,325|C,572)   total(C,572|T,325) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:830, 430, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:3354):
TCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCCCTGAGAATTATCGCACAGTGTCTAAACAAGATG
S
CTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGACTTCCATGGAGTCACTGATTCATCACTTTAAGTTGTA
Celera SNP ID:            hCV156083
SNP Position Transcript:  1346
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,4)   total(G,1|C,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:830, 352, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:3355):
GGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCC
R
GCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTG
Celera SNP ID:            hCV27863178
SNP Position Transcript:  975
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:830, 228, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:3356):
GAGCAGCGTTTGATCCCCCCTGCCTATCAGCTTCTTCTGTGGAGCCTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
K
ATGTTCATGTACACTTGGCTGTCAGGCTTTCTGTGCATGTACTAAAAAAGGAGAAATTATAATAAATTAGCCGTCTTGCGGCCCCTAGGCCTAAACTTCT
Celera SNP ID:            hCV26627115
SNP Position Transcript:  1791
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|T,2|-,6)   total(G,2|-,6|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:830, None   



Context             (SEQ ID NO:3357):
GCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGC
M
AGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTG
Celera SNP ID:            hCV27863179
SNP Position Transcript:  978
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:830, 229, (Q,CAA)   (P,CCA)      



Gene Number:                 62
Celera Gene:                 hCG1786672 - 30000023734302
Celera Transcript:           hCT2333636 - 30000023734304
Public Transcript Accession: NM_030772
Celera Protein:              hCP1810590 - 197000064953231
Public Protein Accession:    NP_110399
Gene Symbol:                 GJA10
Protein Name:                gap junction protein, alpha 10, 59kDa;CX58;CX59
Celera Genomic Axis:         GA_x5YUV32W802(44258998..44266173)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:134):
ATGGTGCTGTTTTAAAAGCAAGGATAAGCAGAAAGGGACATGGATTTTAGTTGATGGATGACTCACTCACTACATTCAACTGAACTGAATCTGCTCTATA
CCAGCAAAGGGACAAATTCAGAAAATAAATTGAAGATGGCCATGCTGTAACTTCTAAACATGGTTTGCTTCTCAGATTTACCTAAACTAAGAAAGGTTTG
CTTTAAGAAATAGTGCTCCCTTCAGAATGGAAGAATTTATCTGCCTCTTATTTGATGTGGATCAGAGCTAAGATGGCTGACTAAARAAACATGGGGGACT
GGAATCTCCTTGGAGATACTCTGGAGGAAGTTCACATCCACTCCACCATGATTGGAAAGATCTGGCTCACCATCCTGTTCATATTTCGAATGCTTGTTCT
GGGTGTAGCAGCTGAAGATGTCTGGAATGATGAGCAGTCTGGCTTCATCTGCAATACAGAACAACCAGGCTGCAGAAATGTATGCTACGACCAGGCCTTT
CCTATCTCCCTCATTAGATACTGGGTTCTGCAGGTGATATTTGTGTCTTCACCATCCCTGGTCTACATGGGCCATGCATTGTACCGACTGAGAGTTCTTG
AGGAAGAGAGGCAAAGGATGAAAGCTCAGTTAAGAGTAGAACTGGAGGAGGTAGAGTTTGAAATGCCTAGGGATCGGAGGAGATTGGAGCAAGAGCTTTG
TCAGCTGGAGAAAAGGAAACTAAATAAAGCTCCACTCAGAGGAACCTTGCTTTGCACTTATGTGATACACATTTTCACTCGCTCTGTGGTTGAAGTTGGA
TTCATGATTGGACAGTACCTTTTATATGGATTTCACTTAGAGCCGCTATTTAAGTGCCATGGCCACCCGTGTCCAAATATAATCGACTGTTTTGTCTCAA
GACCAACAGAAAAGACAATATTCCTATTATTTATGCAATCTATAGCCACTATTTCACTTTTCTTAAACATTCTTGAAATTTTCCACCTAGGTTTTAAAAA
GATTAAAAGAGGGCTTTGGGGAAAATACAAGTTGAAGAAGGAACATAATGAATTCCATGCAAACAAGGCAAAACAAAATGTAGCCAAATACCAGAGCACA
TCTGCAAATTCACTGAAGCGACTCCCTTCTGCCCCTGATTATAATCTGTTAGTGGAAAAGCAAACACACACTYCAGTGTACCCTAGTTTAAATTCATCTT
CTGTATTCCAGCCAAATCCTGACAATCATAGTGTAAATGATGAGAAATGCATTTTGGATGAACAGGAAACTGTACTTTCTAATGAGATTTCCACACTTAG
TACTAGTTGTAGTCATTTTCAACACATCAGTTCAAACAATAACAAAGACACTCATAAAATATTTGGAAAAGAACTTAATGGTAACCAGTTAATGGAAAAA
AGAGAAACTGAAGGCAAAGACAGCAAAYGGAACTACTACTCTAGAGGTCACCGTTCTATTCCAGGTGTTGCTATAGATGGAGAGAACAACATGAGGCAGT
CACCCCAAACAGTTTTCTCCTTGCCAGYTAACTGCGATTGGAAACCGCGGTGGCTTAGAGCTACATGGGGTTCCTCTACAGAACATGAAAACCGGGGGTC
ACCTCCTAAAGGTAAYCTCAAGGGCCAGTTCAGAAAGGGCACAGTCAGAACCCYTCCTCCTTCACAAGGAGATTCTCAATCACTTGACATTCCAAACACT
GCTGATTCTTTGGGAGGGCTGTCCTTTGAGCCAGGGTTGGTCAGAACCTGTARTAATCCTGTTTGTCCTCCAAATCACGTAGTGTCCCTAACGAACAATC
TCATTGGTAGGCGGGTTCCCACAGATCTTCAGATCTAAACAGCGGTTGGCTTTTAGACATTATATATATTATCAGAGAAGTAGCCTAGTGGTCGTGGGGC
ACAGAAAAAATAGATAGGGGCAGCTCTAAAGACCAGCT

Protein Sequence    (SEQ ID NO:831):
MGDWNLLGDTLEEVHIHSTMIGKIWLTILFIFRMLVLGVAAEDVWNDEQSGFICNTEQPGCRNVCYDQAFPISLIRYWVLQVIFVSSPSLVYMGHALYRL
RVLEEERQRMKAQLRVELEEVEFEMPRDRRRLEQELCQLEKRKLNKAPLRGTLLCTYVIHIFTRSVVEVGFMIGQYLLYGFHLEPLFKCHGHPCPNIIDC
FVSRPTEKTIFLLFMQSIATISLFLNILEIFHLGFKKIKRGLWGKYKLKKEHNEFHANKAKQNVAKYQSTSANSLKRLPSAPDYNLLVEKQTHTAVYPSL
NSSSVFQPNPDNHSVNDEKCILDEQETVLSNEISTLSTSCSHFQHISSNNNKDTHKIFGKELNGNQLMEKRETEGKDSKRNYYSRGHRSIPGVAIDGENN
MRQSPQTVFSLPANCDWKPRWLRATWGSSTEHENRGSPPKGNLKGQFRKGTVRTLPPSQGDSQSLDIPNTADSLGGLSFEPGLVRTCNNPVCPPNHVVSL
TNNLIGRRVPTDLQI


SNP Information

Context             (SEQ ID NO:3358):
CTTCCTCCTTCACAAGGAGATTCTCAATCACTTGACATTCCAAACACTGCTGATTCTTTGGGAGGGCTGTCCTTTGAGCCAGGGTTGGTCAGAACCTGTA
R
TAATCCTGTTTGTCCTCCAAATCACGTAGTGTCCCTAACGAACAATCTCATTGGTAGGCGGGTTCCCACAGATCTTCAGATCTAAACAGCGGTTGGCTTT
Celera SNP ID:            hCV1976616
SNP Position Transcript:  1753
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,8)   caucasian(A,17|G,21)   total(A,23|G,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 497, (I,ATA)   (V,GTA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,8)      total(G,8|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 497, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:3359):
ACAAAATGTAGCCAAATACCAGAGCACATCTGCAAATTCACTGAAGCGACTCCCTTCTGCCCCTGATTATAATCTGTTAGTGGAAAAGCAAACACACACT
Y
CAGTGTACCCTAGTTTAAATTCATCTTCTGTATTCCAGCCAAATCCTGACAATCATAGTGTAAATGATGAGAAATGCATTTTGGATGAACAGGAAACTGT
Celera SNP ID:            hCV8858923
SNP Position Transcript:  1173
SNP Source:               Applera
Population(Allele,Count): african american(T,18)   caucasian(C,6|T,24)   total(C,6|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:831, 303, (S,TCC)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,8|T,30)   total(C,9|T,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:831, 303, (S,TCC)   (S,TCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;Caucasian(C,13|T,71)   African-American(C,11|T,73)   no_pop(T,-|C,-)   Asians(C,13|T,71)   total(C,37|T,215)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:831, 303, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:3360):
CTTAGAGCTACATGGGGTTCCTCTACAGAACATGAAAACCGGGGGTCACCTCCTAAAGGTAACCTCAAGGGCCAGTTCAGAAAGGGCACAGTCAGAACCC
Y
TCCTCCTTCACAAGGAGATTCTCAATCACTTGACATTCCAAACACTGCTGATTCTTTGGGAGGGCTGTCCTTTGAGCCAGGGTTGGTCAGAACCTGTAAT
Celera SNP ID:            hCV25931771
SNP Position Transcript:  1654
SNP Source:               Applera
Population(Allele,Count): african american(T,22)   caucasian(C,1|T,37)   total(C,1|T,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 464, (P,CCA)   (S,TCA)   



Context             (SEQ ID NO:3361):
CAGTTCAAACAATAACAAAGACACTCATAAAATATTTGGAAAAGAACTTAATGGTAACCAGTTAATGGAAAAAAGAGAAACTGAAGGCAAAGACAGCAAA
Y
GGAACTACTACTCTAGAGGTCACCGTTCTATTCCAGGTGTTGCTATAGATGGAGAGAACAACATGAGGCAGTCACCCCAAACAGTTTTCTCCTTGCCAGC
Celera SNP ID:            hCV25928862
SNP Position Transcript:  1428
SNP Source:               Applera
Population(Allele,Count): african american(T,20)   caucasian(C,3|T,21)   total(C,3|T,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:831, 388, (R,CGC)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(T,14)   caucasian(C,2|T,4)   total(C,2|T,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:831, 388, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:3362):
AGGAACTACTACTCTAGAGGTCACCGTTCTATTCCAGGTGTTGCTATAGATGGAGAGAACAACATGAGGCAGTCACCCCAAACAGTTTTCTCCTTGCCAG
Y
TAACTGCGATTGGAAACCGCGGTGGCTTAGAGCTACATGGGGTTCCTCTACAGAACATGAAAACCGGGGGTCACCTCCTAAAGGTAACCTCAAGGGCCAG
Celera SNP ID:            hCV25931167
SNP Position Transcript:  1528
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,3)   caucasian(C,36)   total(C,53|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 422, (L,CTT)   (F,TTT)   



Context             (SEQ ID NO:3363):
TCTCCTTGCCAGCTAACTGCGATTGGAAACCGCGGTGGCTTAGAGCTACATGGGGTTCCTCTACAGAACATGAAAACCGGGGGTCACCTCCTAAAGGTAA
Y
CTCAAGGGCCAGTTCAGAAAGGGCACAGTCAGAACCCTTCCTCCTTCACAAGGAGATTCTCAATCACTTGACATTCCAAACACTGCTGATTCTTTGGGAG
Celera SNP ID:            hCV25931710
SNP Position Transcript:  1616
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,5)   caucasian(C,40)   total(C,63|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 451, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:3364):
ACTAAGAAAGGTTTGCTTTAAGAAATAGTGCTCCCTTCAGAATGGAAGAATTTATCTGCCTCTTATTTGATGTGGATCAGAGCTAAGATGGCTGACTAAA
R
AAACATGGGGGACTGGAATCTCCTTGGAGATACTCTGGAGGAAGTTCACATCCACTCCACCATGATTGGAAAGATCTGGCTCACCATCCTGTTCATATTT
Celera SNP ID:            hCV25927135
SNP Position Transcript:  286
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:831, 8, (R,AGA)   (G,GGA)   



Gene Number:                 63
Celera Gene:                 hCG1787699 - 208000027688690
Celera Transcript:           hCT1826764 - 208000027688685
Public Transcript Accession: NM_178865
Celera Protein:              hCP1740070 - 208000027688687
Public Protein Accession:    NP_849196
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(51724335..51725922)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:135):
AGAGACACCATGTTGCCCAGGCTGGCCTTGAACTCCTGGGCCCAAGCAATCCTCCTGCTTCAGTCTGGCAAAGTGTTTGGATTACAAATAACTTACTACT
TGCCAAGTTCCTTTCTAAGTGTTTTTGTTTTGTTTTGTTAATTTTTAAAAAGAGACAGCGTCTTACTATGTTGCCCAGGCTGGTCTCAATCTCCTGGGCC
CAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGGGTTACAGGTGTGAGCCACCATGCCTGGCCCCTTTCTAAGTGTTTTACACATACTGATTCAT
CTATAGCCCTTCAACAATCCAATGAGGAAGGTACTATTTTTATCTCTATTTTACAGACAAGGAAATGGAGGCCTAAAGAGGTTAAGTGACTTGCCCAGGA
TCACATAGCTAGTAAGTGGCAATGCCAGGCTCAAATGCAGGCATTTGAGTCCACATGGATAAGCACCTACTAAGATGCCCCTTTGAAAAGAACCTCTATG
TGAACTTCAGCATGAGCTGCCTTCTCTCGGGGGAGAGTGTGGGGTCACAGCCACATCCACTACAGTGGAGGTTGTCATCCTCTTACTGAGGAGGAAACAG
GAGCTCAGAAAGGTTAAGCCACTTACCCCAAGCCGCACAGCAGGGGAGAAACAGACCCTGGACCCACTGACCCCAGTCCATGCTCCTTCCCTGACCCCAC
AGCCGTCTGCACCCAACTGAACTGGCCCAGTATGCAGGAAAGGGCTGTGAGCCAGGAGGCAAGGTCACGCCTGCCTCTGTTGCCCACTCATGCCATGCCC
TCTGAGGGACTCAGTTTCCCCTCCCGCACAATGCAAGACCTGGATATATTGAATGTGAAGAGCACGTTCCAGTTTGGTATCCTGGCTCCCACACCCTCCC
CTCACTCTGGCTCAGGGCCCTCAATCAYGATCCTTCCCCAGAATCCAGACCTGGCCATACCTGATGAAGAGGGTGCACAGGAGGAAGATGATGAGGCCCA
CAATGCTCGGGGCATCCCACCACTGGGTCTCATAGCCCTCGGGGCCTGCCACAACTGTCTCGTTGCYCAGCTGGGTTGGCAAATGGGGGTTGCATTTCTG
TTCTGGAGATGGGAGCACAATCACCCTCAGCCCATGCAGGCCAGGCCTAGGTAGCCAAGTGGCCCTGAGGATGGCTAGAGAGCCACCCCTAATAGACAGA
CAGATACACAGCCAACCACTCAAGTCCCAGCAACAGAGCGCTCAGCAGTCACAAGGGCAGAGAGACAACTCAGGAACAGACGGGGCCCTCCCATCTCATG
GGAGGACTGAGTCTCAGAATGGGCTGGAGCAGGGATGTCCCTGTCACCTGTGAGGGTCCCCAGCCCCACAGTAGACTGATACTGACCCAGGAACGAGGCC
AGGCCTCCTTGAGCCTGGGCCCATACTTACCAGGGATACTGGATAGGGCTGACCAGGTGACAAACATGGTGTAGAGGGTGATGACCGAGGCCTGCAGCAG
ACCCGAGTTGGGCTGGGCGTCCTGGCAAGAGGACCCCTGGTAAGACCCCTGCCAGACCAGAGACACCCCACCCCACCCAGCCCACTC

Protein Sequence    (SEQ ID NO:832):
MQERAVSQEARSRLPLLPTHAMPSEGLSFPSRTMQDLDILNVKSTFQFGILAPTPSPHSGSGPSIMILPQNPDLAIPDEEGAQEEDDEAHNARGIPPLGL
IALGACHNCLVAQLGWQMGVAFLFWRWEHNHPQPMQARPR


SNP Information

Context             (SEQ ID NO:3365):
ACAATGCAAGACCTGGATATATTGAATGTGAAGAGCACGTTCCAGTTTGGTATCCTGGCTCCCACACCCTCCCCTCACTCTGGCTCAGGGCCCTCAATCA
Y
GATCCTTCCCCAGAATCCAGACCTGGCCATACCTGATGAAGAGGGTGCACAGGAGGAAGATGATGAGGCCCACAATGCTCGGGGCATCCCACCACTGGGT
Celera SNP ID:            hCV22275430
SNP Position Transcript:  928
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,21)   caucasian(C,17|T,23)   total(C,34|T,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:832, 66, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:3366):
AAGAGGGTGCACAGGAGGAAGATGATGAGGCCCACAATGCTCGGGGCATCCCACCACTGGGTCTCATAGCCCTCGGGGCCTGCCACAACTGTCTCGTTGC
Y
CAGCTGGGTTGGCAAATGGGGGTTGCATTTCTGTTCTGGAGATGGGAGCACAATCACCCTCAGCCCATGCAGGCCAGGCCTAGGTAGCCAAGTGGCCCTG
Celera SNP ID:            hCV161389
SNP Position Transcript:  1067
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:832, 112, (A,GCC)   (A,GCT)      



Gene Number:                 64
Celera Gene:                 hCG1788921 - 30000054263727
Celera Transcript:           hCT1828167 - 30000054263728
Public Transcript Accession: 
Celera Protein:              hCP1739490 - 30000054263729
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(40233290..40234160)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:136):
ATAAAGTAAAGGAAATTGATAAAGATCTGCACAGGGGTTTCCTCTGCCCAATCCTCCCACCTTCCCCTTCAAACTTAAACTCGAGCCTGCTGCTCTCCGG
CCTAGCATTGCTCTTGCCATGGCTGTCAGTGATGCTGACATGCGAAAGCAGATAAAGCATATGATGGCTTTCATTGAATAAGAAGCCAATGAGAAAGCAG
AAGAAATAGATGCAAAGGCARAAGAAGAGTTCAACATAGAGAAAGGTCAGCTTGTGGAAACCCAAAGACTAAAGATTATGGAATATCATGAGAAGAAAGA
GAAACAGATTGAGTAGCAGAAGAAAATTCAGATATCCAATTTGATGAATCAAGCAAGGCTCAAAGTCCTCAGAGCGAGAGATGACCTTATCACAGACCTA
CTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTAGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGC
TGGAGCACCGAATGATTGTTYGTTGCAGGAAACAAGACCTTCCTCTGGTAAAGGCTGCGGTGCAAAAGGCAATCCCTATGTACAAAATTGCCACCAAAAA
CAATGTTGATGTCCAAATCGACCAGGAGTCCTACCTGCCTGAGGACATAGCTGGTGGAGTTGAGATCTATAATGGTAATCATAAAATAAAGGTTTCYAAA
ACCCCAGAAAGCCAGCTGGATCTCATAGCCCAGCAGATGATGCTAGAAGTCCAGGGAGCCTTCTTTGGTGCAAAAGCCAACAGGAAATTTTTGGACTAAG
CCTTCAGGAGGTAGAGCACGTTCTCAGCTCTCCTGCTATGATGTGGAAGATTCTGATATTTGAAGAAACG

Protein Sequence    (SEQ ID NO:833):
QKKIQISNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLVLQGLYQLLEHRMIVRCRKQDLPLVKAAVQKAIPMYKIATKNNVDVQ
IDQESYLPEDIAGGVEIYNGNHKIKVSKTPESQLDLIAQQMMLEVQGAFFGAKANRKFLD


SNP Information

Context             (SEQ ID NO:3367):
GGCTGTCAGTGATGCTGACATGCGAAAGCAGATAAAGCATATGATGGCTTTCATTGAATAAGAAGCCAATGAGAAAGCAGAAGAAATAGATGCAAAGGCA
R
AAGAAGAGTTCAACATAGAGAAAGGTCAGCTTGTGGAAACCCAAAGACTAAAGATTATGGAATATCATGAGAAGAAAGAGAAACAGATTGAGTAGCAGAA
Celera SNP ID:            hCV8375074
SNP Position Transcript:  221
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,12)      total(G,12|A,3) ;Caucasian(A,17|G,67)   African-American(A,17|G,67)   no_pop(A,-|G,-)   Asians(A,29|G,55)   total(G,189|A,63)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:833, None   



Context             (SEQ ID NO:3368):
AAAACAATGTTGATGTCCAAATCGACCAGGAGTCCTACCTGCCTGAGGACATAGCTGGTGGAGTTGAGATCTATAATGGTAATCATAAAATAAAGGTTTC
Y
AAAACCCCAGAAAGCCAGCTGGATCTCATAGCCCAGCAGATGATGCTAGAAGTCCAGGGAGCCTTCTTTGGTGCAAAAGCCAACAGGAAATTTTTGGACT
Celera SNP ID:            hCV26054201
SNP Position Transcript:  697
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:833, 118, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:3369):
ACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTAGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCACCGAATGATTGTT
Y
GTTGCAGGAAACAAGACCTTCCTCTGGTAAAGGCTGCGGTGCAAAAGGCAATCCCTATGTACAAAATTGCCACCAAAAACAATGTTGATGTCCAAATCGA
Celera SNP ID:            hCV8375075
SNP Position Transcript:  521
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:833, 60, (R,CGT)   (C,TGT)      



Gene Number:                 65
Celera Gene:                 hCG1792358 - 206000045405793
Celera Transcript:           hCT1831618 - 206000045405794
Public Transcript Accession: 
Celera Protein:              hCP1713448 - 197000069368325
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W3P1(5448443..5449024)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:137):
ACTGCCACCGCCGGGAGCCCCGTACTATCAGCCATGGTCAACCCCACTGTGTTCATTGATGGTGAGTCCTTGGGCCACGTCTCCTTCAAGCTGTCTGCAG
ACAAGTTTCCAAAGACAGCAGAAAACTTTCGTGCTATGAGCACTGGAGAGAAAGGATTTGGTTATAAGGGTTCCTGCTTTCACAGAATTATTCCAGGGTT
TATGTGTCGGGGTGGTGACTTCACGCACCATAATGGCACTGGTGGCAAGTCCGTCCACCAGGAGAAATTTGATGATGAGAACTTCATCCTAAAACATACA
GGTCCTGGCATCTTGTCCACGGCAAATGCTGGACCCAACACAAATTGTTCCTGGTTTTTCATCTCCATTGMGAAGACTGAGAGTTTGGATGGCCAGCACG
TGGTCTTTGGCAATATGAAAGAAGGCATGAATGTTGTGGAGGCCATGGAGCCCTTTGGGTTCAGGAATGGCAAGACCAGCAAGAAGATCACCATTGCTGA
CTGTGGACAACTCCAACAAATTTGACTTGTGTTTTATCTTAAACACCAGACCATTCCTTCTGTAGCTCAGGAGAGCACCCC

Protein Sequence    (SEQ ID NO:834):
MVNPTVFIDGESLGHVSFKLSADKFPKTAENFRAMSTGEKGFGYKGSCFHRIIPGFMCRGGDFTHHNGTGGKSVHQEKFDDENFILKHTGPGILSTANAG
PNTNCSWFFISIAKTESLDGQHVVFGNMKEGMNVVEAMEPFGFRNGKTSKKITIADCGQLQQI


SNP Information

Context             (SEQ ID NO:3370):
GATGATGAGAACTTCATCCTAAAACATACAGGTCCTGGCATCTTGTCCACGGCAAATGCTGGACCCAACACAAATTGTTCCTGGTTTTTCATCTCCATTG
M
GAAGACTGAGAGTTTGGATGGCCAGCACGTGGTCTTTGGCAATATGAAAGAAGGCATGAATGTTGTGGAGGCCATGGAGCCCTTTGGGTTCAGGAATGGC
Celera SNP ID:            hCV11548140
SNP Position Transcript:  371
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,7)   total(A,1|C,7) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:834, 113, (E,GAG)   (A,GCG)      



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT2305705 - 79000075540999
Public Transcript Accession: NM_005746
Celera Protein:              hCP1905326 - 197000069468590
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3453029..3490340)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:138):
GTCAGGAGGATCAGGAGGGACAAGAGGGATGGAGGCGAAAGGCTGGATCCTTAATCCAGGCCGGAGACAAAGCCGCGCCAGGGAGCTCGCGGCGCGCGGC
CCCTGWCCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCA
CCCAACACAAGCAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTATG
GGTTGCAGTACATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGA
TGTCTTTAATGAAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCTGAGGGCTTTGTCATTCCCAGA
GGAAATGTTCTCTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATTCTTGTTCAGTCCTGGTATCCAATCACAG
TGGCCACAAATTCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGG
CTACAGAGGAGTCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACAGTAGCAGGACTTGCTCTAATT
AAAAAATATTATGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACAGCTTGGGGGAAAGACCATGAAAAAGATG
CTTTTGAACATATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGA
TCTAAGACATTTAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATT
TTAGGTAAGAAGTTTCCTGTTACTGAGAACTCAAAGGGTTACAAGTTGCTGCCACCTTATCTTAGAGTTATTCAAGGGGATGGAGTAGATATTAATACCT
TACAAGAGATTGTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTCGGTTCTGGTGGAGGTTTGCTACAGAAGTTGACAAGAGATCT
CTTGAATTGTTCCTTCAAGTGTAGCTATGTTGTAACTAATGGCCTTGGGATTAACGTCTTCAAGGACCCAGTTGCTGATCCCAACAAAAGGTCCAAAAAG
GGCCGATTATCTTTACATAGGACGCCAGCAGGGAATTTTGTTACACTGGAGGAAGGAAAAGGAGACCTTGAGGAATATGGTCAGGATCTTCTCCATACTG
TCTTCAAGAATGGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCACAGCTGAATATTGAACTGGAAGCAGCACATCATTAGGCTTT
ATGACTGGGTGTGTGTTGTGTGTATGTAATACATAATGTTTATTGTACAGATGTGTGGGGTTTGTGTTTTATGATACATTACAGCCAAATTATTTGTTGG
TTTATGGACATACTGCCCTTTCATTTTTTTTCTTTTCCAGTGTTTAGGTGATCTCAAATTAGGAAATGCATTTAACCATGTAAAAGATGAGTGCTAAAGT
AAGCTTTTTAGGGCCCTTTGCCAATAGGTAGTCATTCAATCTGGTATTGATCTTTTCACAAATAACAGAACTGAGAAACTTTTATATATAACTGATGATC
ACATAAAACAGATTTGCATAAAATTACCATGATTGCTTTATGTTTATATTTAACTTGTATTTTTGTACAAACAAGATTGTGTAAGATATATTTGAAGTTT
CAGTGATTTAACAGTCTTTCCAACTTTTCATGATTTTTATGAGCACAGACTTTCAAGAAAATACTTGAAAATAAATTACATTGCCTTTTGTCCATTAATC
AGCAAATAAAACATGGCCTTAACAAAGTTGTTTGTGTTATTGTACAATTTGAAAATTATGTCGGGACATACCCTATAGAATTACTAACCTTACTGCCCCT
TGTAGAATATGTATTAATCATTCTACATTAAAGAAAATAATGGTTCTTACTGGAATGTCTAGGCACTGTACAGTTATTATATATCTTGGTTGTTGTATTG
TACCAGTGAAATGCCAAATTTGAAAGGCCTGTACTGCAATTTTATATGTCAGAGATTGCCTGTGGCTCTAATATGCACCTCAAGATTTTAAGGAGATAAT
GTTTTTAGAGAGAATTTCTGCTTCCACTATAGAATATATACATAAATGTAAAATACTTACAAAAGTGGAAGTAGTGTATTTTAAAGTAATTACACTTCTG
AATTTATTTTTCATATTCTATAGTTGGTATGACTTAAATGAATTACTGGAGTGGGTAGTGAGTGTACTTAAATGTTTCAATTCTGTTATATTTTTTATTA
AGTTTTTAAAAAATTAAATTGGATATTAAATTGTATGGACATCATTTATTAATTTTAAACTGAATGCCCTCAATAAGTAATACTGAAGCACATTCTTAAA
TGAAGATAAATTATCTCCAATGAAAAGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAG
TGATTAGCTACTAGATTCTGAATCAKACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAG
CGGTTGGCCAACTATAGCCCAAAGGCCAAATTTGGACTTCTTTTTATAAATGCAGATTGTCTATGGCTGCTTTCCCACTACTCCAGCCTAAGGTAAACAG
CTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAATYACACAAAAAGTTTCCTGATCTCTGTTCTAAGA
AAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGATACGGAATTTTCCTCTTTTGTCTTCTTTTTTC
TCACTTAAGAATCCGATACTGGAAGACTGATTTAGAAAAGTTTTTAACATGACATTAAATGTGAAATTTTAAAAATTGAAAAGCCATAAATCATCTGTTT
TAAATAGTTACATGAGAAAATGATCACTAGAATAACCTAATTAGAAGTGTTATCTTCATTAAATGTTTTTTGTAAGTGGTATTAGAAAGAATATGTTTTT
CAGATGGTTCTTTAAACATGTAGTGAGAACAATAAGCATTATTCACTTTTAGTAAGTCTTCTGTAATCCATGATATAAAATAATTTTAAAATGATTTTTT
AATGTATTTGAGTAAAGATGAGTAGTATTAAGAAAAACACACATTTCTTCACAAAATGTGCTAAGGGGCGTGTAAAGAATCAAAAGAAACTATTACCAAT
AATAGTTTTGATAATCACCCATAATTTTGTGTTTAAACATTGAAATTATAGTACAGACAGTATTCTCTGTGTTCTGTGAATTTCAGCAGCTTCAGAATAG
AGTTTAATTTAGAAATTTGCAGTGAAAAAAGCTATCTCTTTGTTCACAACCATAAATCAGGAGATGGAGATTAATTCTATTGGCTCTTAGTCACTTGGAA
CTGATTAATTCTGACTTTCTGTCACTAAGCACTTGGTATTTGGCCATCTCCATTCTGAGCACCAAACGGTTAACACGAATGTCCACTAGAACTCTGCTGT
GTGTCACCCTTAAATCAGTCTAAATCTTCCAGACAAAAGCAAATGGCATTTATGGATTTAAGTCATTAGAGTATTTATATCTTAAATAGGAGGTAGGATT
TCTGTGTTAAGACTCTTATTTGTACCCTATAATTAAAGTAAAATGTTTTTTATGAGTATCCCTTGTTTTCCCTTCTTAAATTGTTATCAAACAATTTTTA
TAATGAAATCTATCTTGGAAAATTAGAAAGAAAAATGGCAAGGTATTTATTGTTCTGTTTGCCATAATTTAGAACTCACACTTAAGTATTTTGTAGTTTT
ACATTCCTTTTTAACCCATTCAGTGGAGAATGTCAGCTTTTCTCCCAAGTTGTATGTTAAGTCTATTCTAATATGTACTCAACATCAAGTTATAAACATG
TAATAAACATGGAAATAAAGTTTAGCT

Protein Sequence    (SEQ ID NO:835):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNAQLNIELEAAHH


SNP Information

Context             (SEQ ID NO:3371):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTA
Celera SNP ID:            hCV2673293
SNP Position Transcript:  1022
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:835, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:835, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3372):
TGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAAT
Y
ACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGA
Celera SNP ID:            hCV26937662
SNP Position Transcript:  3068
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   POOLE|_CEPH(T,67|C,121)   total(C,121|T,67)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:835, None   



Context             (SEQ ID NO:3373):
AGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCA
K
ACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGC
Celera SNP ID:            hCV7590634
SNP Position Transcript:  2826
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:835, None   



Context             (SEQ ID NO:3374):
GAGGATCAGGAGGGACAAGAGGGATGGAGGCGAAAGGCTGGATCCTTAATCCAGGCCGGAGACAAAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  106
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:835, None   



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT2305710 - 79000075541016
Public Transcript Accession: NM_005746
Celera Protein:              hCP1905327 - 197000069468591
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3453029..3489920)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:139):
GCTGCCGCGCCCCGCCCTTTCTCGGCCCCCGGAGGGTGACGGGGTGAAGGCGGGGGAACCGAGGTGGGGAGTCCGCCAGAGCTCCCAGACTGCGAGCACG
CGAGCCGCCGCAGCCGTCACCCGCGCCGCGTCACGGCTCCCGGGCCCGCCCTCCTCTGACCCCTCCCCTCTCTCCGTTTCCCCCTCTCCCCCTCCTCCGC
CGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTGWCCTCC
GGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAACACAAG
CAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTATGGGTTGCAGTAC
ATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGATGTCTTTAATG
AAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCTGAGGGCTTTGTCATTCCCAGAGGAAATGTTCT
CTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATTCTTGTTCAGTCCTGGTATCCAATCACAGTGGCCACAAAT
TCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGGCTACAGAGGAG
TCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACAGTAGCAGGACTTGCTCTAATTAAAAAATATTA
TGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACAGCTTGGGGGAAAGACCATGAAAAAGATGCTTTTGAACAT
ATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATT
TAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAA
GTTTCCTGTTACTGAGAACTCAAAGGGTTACAAGTTGCTGCCACCTTATCTTAGAGTTATTCAAGGGGATGGAGTAGATATTAATACCTTACAAGAGATT
GTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTCGGTTCTGGTGGAGGTTTGCTACAGAAGTTGACAAGAGATCTCTTGAATTGTT
CCTTCAAGTGTAGCTATGTTGTAACTAATGGCCTTGGGATTAACGTCTTCAAGGACCCAGTTGCTGATCCCAACAAAAGGTCCAAAAAGGGCCGATTATC
TTTACATAGGACGCCAGCAGGGAATTTTGTTACACTGGAGGAAGGAAAAGGAGACCTTGAGGAATATGGTCAGGATCTTCTCCATACTGTCTTCAAGAAT
GGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCACAGCTGAATATTGAACTGGAAGCAGCACATCATTAGGCTTTATGACTGGGTG
TGTGTTGTGTGTATGTAATACATAATGTTTATTGTACAGATGTGTGGGGTTTGTGTTTTATGATACATTACAGCCAAATTATTTGTTGGTTTATGGACAT
ACTGCCCTTTCATTTTTTTTCTTTTCCAGTGTTTAGGTGATCTCAAATTAGGAAATGCATTTAACCATGTAAAAGATGAGTGCTAAAGTAAGCTTTTTAG
GGCCCTTTGCCAATAGGTAGTCATTCAATCTGGTATTGATCTTTTCACAAATAACAGAACTGAGAAACTTTTATATATAACTGATGATCACATAAAACAG
ATTTGCATAAAATTACCATGATTGCTTTATGTTTATATTTAACTTGTATTTTTGTACAAACAAGATTGTGTAAGATATATTTGAAGTTTCAGTGATTTAA
CAGTCTTTCCAACTTTTCATGATTTTTATGAGCACAGACTTTCAAGAAAATACTTGAAAATAAATTACATTGCCTTTTGTCCATTAATCAGCAAATAAAA
CATGGCCTTAACAAAGTTGTTTGTGTTATTGTACAATTTGAAAATTATGTCGGGACATACCCTATAGAATTACTAACCTTACTGCCCCTTGTAGAATATG
TATTAATCATTCTACATTAAAGAAAATAATGGTTCTTACTGGAATGTCTAGGCACTGTACAGTTATTATATATCTTGGTTGTTGTATTGTACCAGTGAAA
TGCCAAATTTGAAAGGCCTGTACTGCAATTTTATATGTCAGAGATTGCCTGTGGCTCTAATATGCACCTCAAGATTTTAAGGAGATAATGTTTTTAGAGA
GAATTTCTGCTTCCACTATAGAATATATACATAAATGTAAAATACTTACAAAAGTGGAAGTAGTGTATTTTAAAGTAATTACACTTCTGAATTTATTTTT
CATATTCTATAGTTGGTATGACTTAAATGAATTACTGGAGTGGGTAGTGAGTGTACTTAAATGTTTCAATTCTGTTATATTTTTTATTAAGTTTTTAAAA
AATTAAATTGGATATTAAATTGTATGGACATCATTTATTAATTTTAAACTGAATGCCCTCAATAAGTAATACTGAAGCACATTCTTAAATGAAGATAAAT
TATCTCCAATGAAAAGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTAC
TAGATTCTGAATCAKACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAA
CTATAGCCCAAAGGCCAAATTTGGACTTCTTTTTATAAATGCAGATTGTCTATGGCTGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAA
GCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAATYACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTG
CCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGATACGGAATTTTCCTCTTTTGTCTTCTTTTTTCTCACTTAAGAA
TCCGATACTGGAAGACTGATTTAGAAAAGTTTTTAACATGACATTAAATGTGAAATTTTAAAAATTGAAAAGCCATAAATCATCTGTTTTAAATAGTTAC
ATGAGAAAATGATCACTAGAATAACCTAATTAGAAGTGTTATCTTCATTAAATGTTTTTTGTAAGTGGTATTAGAAAGAATATGTTTTTCAGATGGTTCT
TTAAACATGTAGTGAGAACAATAAGCATTATTCACTTTTAGTAAGTCTTCTGTAATCCATGATATAAAATAATTTTAAAATGATTTTTTAATGTATTTGA
GTAAAGATGAGTAGTATTAAGAAAAACACACATTTCTTCACAAAATGTGCTAAGGGGCGTGTAAAGAATCAAAAGAAACTATTACCAATAATAGTTTTGA
TAATCACCCATAATTTTGTGTTTAAACATTGAAATTATAGTACAGACAGTATTCTCTGTGTTCTGTGAATTTCAGCAGCTTCAGAATAGAGTTTAATTTA
GAAATTTGCAGTGAAAAAAGCTATCTCTTTGTTCACAACCATAAATCAGGAGATGGAGATTAATTCTATTGGCTCTTAGTCACTTGGAACTGATTAATTC
TGACTTTCTGTCACTAAGCACTTGGTATTTGGCCATCTCCATTCTGAGCACCAAACGGTTAACACGAATGTCCACTAGAACTCTGCTGTGTGTCACCCTT
AAATCAGTCTAAATCTTCCAGACAAAAGCAAATGGCATTTATGGATTTAAGTCATTAGAGTATTTATATCTTAAATAGGAGGTAGGATTTCTGTGTTAAG
ACTCTTATTTGTACCCTATAATTAAAGTAAAATGTTTTTTATGAGTATCCCTTGTTTTCCCTTCTTAAATTGTTATCAAACAATTTTTATAATGAAATCT
ATCTTGGAAAATTAGAAAGAAAAATGGCAAGGTATTTATTGTTCTGTTTGCCATAATTTAGAACTCACACTTAAGTATTTTGTAGTTTTACATTCCTTTT
TAACCCATTCAGTGGAGAATGTCAGCTTTTCTCCCAAGTTGTATGTTAAGTCTATTCTAATATGTACTCAACATCAAGTTATAAACATGTAATAAACATG
GAAATAAAGTTTAGCT

Protein Sequence    (SEQ ID NO:836):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNAQLNIELEAAHH


SNP Information

Context             (SEQ ID NO:3375):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTA
Celera SNP ID:            hCV2673293
SNP Position Transcript:  1211
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:836, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:836, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3376):
TGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAAT
Y
ACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGA
Celera SNP ID:            hCV26937662
SNP Position Transcript:  3257
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   POOLE|_CEPH(T,67|C,121)   total(C,121|T,67)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:836, None   



Context             (SEQ ID NO:3377):
AGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCA
K
ACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGC
Celera SNP ID:            hCV7590634
SNP Position Transcript:  3015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:836, None   



Context             (SEQ ID NO:3378):
CTCCGCCGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  295
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:836, None   



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT2305708 - 79000075540989
Public Transcript Accession: NM_005746
Celera Protein:              hCP1905325 - 197000069468589
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3468117..3489920)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:140):
GCTGCCGCGCCCCGCCCTTTCTCGGCCCCCGGAGGGTGACGGGGTGAAGGCGGGGGAACCGAGGTGGGGAGTCCGCCAGAGCTCCCAGACTGCGAGCACG
CGAGCCGCCGCAGCCGTCACCCGCGCCGCGTCACGGCTCCCGGGCCCGCCCTCCTCTGACCCCTCCCCTCTCTCCGTTTCCCCCTCTCCCCCTCCTCCGC
CGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTGWCCTCC
GGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAACACAAG
CAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTATGGGTTGCAGTAC
ATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGATGTCTTTAATG
AAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCTGAGGGCTTTGTCATTCCCAGAGGAAATGTTCT
CTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATTCTTGTTCAGTCCTGGTATCCAATCACAGTGGCCACAAAT
TCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGGCTACAGAGGAG
TCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACAGTAGCAGGACTTGCTCTAATTAAAAAATATTA
TGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACAGCTTGGGGGAAAGACCATGAAAAAGATGCTTTTGAACAT
ATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATT
TAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAG

Protein Sequence    (SEQ ID NO:837):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLK


SNP Information

Context             (SEQ ID NO:3379):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAG
Celera SNP ID:            hCV2673293
SNP Position Transcript:  1211
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:837, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:837, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3380):
CTCCGCCGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  295
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:837, None   



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT2305707 - 79000075537943
Public Transcript Accession: NM_005746
Celera Protein:              hCP1905322 - 197000069468586
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3453016..3489659)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:141):
CCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTGWCCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTA
CAAGGTTACTCACTATAAACAATATCCACCCAACACAAGCAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAG
GTGAAATATGAGGAAACAGTATTTTATGGGTTGCAGTACATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAG
ATGTCTACAAAGAACATTTCCAAGATGATGTCTTTAATGAAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGC
TGTTCCTGAGGGCTTTGTCATTCCCAGAGGAAATGTTCTCTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATT
CTTGTTCAGTCCTGGTATCCAATCACAGTGGCCACAAATTCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATG
GTCTGGAATACAAGTTACATGATTTTGGCTACAGAGGAGTCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAAC
AGATACAGTAGCAGGACTTGCTCTAATTAAAAAATATTATGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACA
GCTTGGGGGAAAGACCATGAAAAAGATGCTTTTGAACATATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATA
ATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCT
TGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTACTGAGAACTCAAAGGGTTACAAGTTGCTGCCACCTTATCTTAGAGTTATT
CAAGGGGATGGAGTAGATATTAATACCTTACAAGAGATTGTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTCGGTTCTGGTGGAG
GTTTGCTACAGAAGTTGACAAGAGATCTCTTGAATTGTTCCTTCAAGTGTAGCTATGTTGTAACTAATGGCCTTGGGATTAACGTCTTCAAGGACCCAGT
TGCTGATCCCAACAAAAGGTCCAAAAAGGGCCGATTATCTTTACATAGGACGCCAGCAGGGAATTTTGTTACACTGGAGGAAGGAAAAGGAGACCTTGAG
GAATATGGTCAGGATCTTCTCCATACTGTCTTCAAGAATGGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCACAGCTGAATATTG
AACTGGAAGCAGCACATCATTAGGCTTTATGACTGGGTGTGTGTTGTGTGTATGTAATACATAATGTTTATTGTACAGATGTGTGGGGTTTGTGTTTTAT
GATACATTACAGCCAAATTATTTGTTGGTTTATGGACATACTGCCCTTTCATTTTTTTTCTTTTCCAGTGTTTAGGTGATCTCAAATTAGGAAATGCATT
TAACCATGTAAAAGATGAGTGCTAAAGTAAGCTTTTTAGGGCCCTTTGCCAATAGGTAGTCATTCAATCTGGTATTGATCTTTTCACAAATAACAGAACT
GAGAAACTTTTATATATAACTGATGATCACATAAAACAGATTTGCATAAAATTACCATGATTGCTTTATGTTTATATTTAACTTGTATTTTTGTACAAAC
AAGATTGTGTAAGATATATTTGAAGTTTCAGTGATTTAACAGTCTTTCCAACTTTTCATGATTTTTATGAGCACAGACTTTCAAGAAAATACTTGAAAAT
AAATTACATTGCCTTTTGTCCATTAATCAGCAAATAAAACATGGCCTTAACAAAGTTGTTTGTGTTATTGTACAATTTGAAAATTATGTCGGGACATACC
CTATAGAATTACTAACCTTACTGCCCCTTGTAGAATATGTATTAATCATTCTACATTAAAGAAAATAATGGTTCTTACTGGAATGTCTAGGCACTGTACA
GTTATTATATATCTTGGTTGTTGTATTGTACCAGTGAAATGCCAAATTTGAAAGGCCTGTACTGCAATTTTATATGTCAGAGATTGCCTGTGGCTCTAAT
ATGCACCTCAAGATTTTAAGGAGATAATGTTTTTAGAGAGAATTTCTGCTTCCACTATAGAATATATACATAAATGTAAAATACTTACAAAAGTGGAAGT
AGTGTATTTTAAAGTAATTACACTTCTGAATTTATTTTTCATATTCTATAGTTGGTATGACTTAAATGAATTACTGGAGTGGGTAGTGAGTGTACTTAAA
TGTTTCAATTCTGTTATATTTTTTATTAAGTTTTTAAAAAATTAAATTGGATATTAAATTGTATGGACATCATTTATTAATTTTAAACTGAATGCCCTCA
ATAAGTAATACTGAAGCACATTCTTAAATGAAGATAAATTATCTCCAATGAAAAGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCA
AAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCAKACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTA
TGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGCCAAATTTGGACTTCTTTTTATAAATGCAGATTGTCTATGGCTGCTT
TCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAATYACAC
AAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGATACG
GAATTTTCCTCTTTTGTCTTCTTTTTTCTCACTTAAGAATCCGATACTGGAAGACTGATTTAGAAAAGTTTTTAACATGACATTAAATGTGAAATTTTAA
AAATTGAAAAGCCATAAATCATCTGTTTTAAATAGTTACATGAGAAAATGATCACTAGAATAACCTAATTAGAAGTGTTATCTTCATTAAATGTTTTTTG
TAAGTGGTATTAGAAAGAATATGTTTTTCAGATGGTTCTTTAAACATGTAGTGAGAACAATAAGCATTATTCACTTTTAGTAAGTCTTCTGTAATCCATG
ATATAAAATAATTTTAAAATGATTTTTTAATGTATTTGAGTAAAGATGAGTAGTATTAAGAAAAACACACATTTCTTCACAAAATGTGCTAAGGGGCGTG
TAAAGAATCAAAAGAAACTATTACCAATAATAGTTTTGATAATCACCCATAATTTTGTGTTTAAACATTGAAATTATAGTACAGACAGTATTCTCTGTGT
TCTGTGAATTTCAGCAGCTTCAGAATAGAGTTTAATTTAGAAATTTGCAGTGAAAAAAGCTATCTCTTTGTTCACAACCATAAATCAGGAGATGGAGATT
AATTCTATTGGCTCTTAGTCACTTGGAACTGATTAATTCTGACTTTCTGTCACTAAGCACTTGGTATTTGGCCATCTCCATTCTGAGCACCAAACGGTTA
ACACGAATGTCCACTAGAACTCTGCTGTGTGTCACCCTTAAATCAGTCTAAATCTTCCAGACAAAAGCAAATGGCATTTATGGATTTAAGTCATTAGATT
TTCAACTGACATTAATTAATCCCTCTTGATTGATTATATCATCAAGTATTTATATCTTAAATAGGAGGTAGGATTTCTGTGTTAAGACTCTTATTTGTAC
CCTATAATTAAAGTAAAATGTTTTTTATGAGTATCCCTTGTTTTCCCTTCTTAAATTGTTATCAAACAATTTTTATAATGAAATCTATCTTGGAAAATTA
GAAAGAAAAATGGCAAGGTATTTATTGTTCTGTTTGCCATAATTTAGAACTCACACTTAAGTATTTTGTAGTTTTACATTCCTTTTTAACCCATTCAGTG
GAGAATGTCAGCTTTTCTCCCAAGTTGTATGTTAAGTCTATTCTAATATGTACTCAACATCAAGTTATAAACATGTAATAAACATGGAAATAAAGTTTAG
CTCTATTAGTGAAGT

Protein Sequence    (SEQ ID NO:838):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNAQLNIELEAAHH


SNP Information

Context             (SEQ ID NO:3381):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTA
Celera SNP ID:            hCV2673293
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:838, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:838, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3382):
TGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAAT
Y
ACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGA
Celera SNP ID:            hCV26937662
SNP Position Transcript:  2996
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   POOLE|_CEPH(T,67|C,121)   total(C,121|T,67)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:838, None   



Context             (SEQ ID NO:3383):
AGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCA
K
ACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGC
Celera SNP ID:            hCV7590634
SNP Position Transcript:  2754
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:838, None   



Context             (SEQ ID NO:3384):
CCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  34
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:838, None   



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT2305709 - 79000075537958
Public Transcript Accession: NM_005746
Celera Protein:              hCP1905323 - 197000069468587
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3453016..3490340)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:142):
GTCAGGAGGATCAGGAGGGACAAGAGGGATGGAGGCGAAAGGCTGGATCCTTAATCCAGGCCGGAGACAAAGCCGCGCCAGGGAGCTCGCGGCGCGCGGC
CCCTGWCCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCA
CCCAACACAAGCAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTATG
GGTTGCAGTACATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGA
TGTCTTTAATGAAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCTGAGGGCTTTGTCATTCCCAGA
GGAAATGTTCTCTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATTCTTGTTCAGTCCTGGTATCCAATCACAG
TGGCCACAAATTCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGG
CTACAGAGGAGTCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACAGTAGCAGGACTTGCTCTAATT
AAAAAATATTATGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACAGCTTGGGGGAAAGACCATGAAAAAGATG
CTTTTGAACATATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGA
TCTAAGACATTTAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATT
TTAGGTAAGAAGTTTCCTGTTACTGAGAACTCAAAGGGTTACAAGTTGCTGCCACCTTATCTTAGAGTTATTCAAGGGGATGGAGTAGATATTAATACCT
TACAAGAGATTGTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTCGGTTCTGGTGGAGGTTTGCTACAGAAGTTGACAAGAGATCT
CTTGAATTGTTCCTTCAAGTGTAGCTATGTTGTAACTAATGGCCTTGGGATTAACGTCTTCAAGGACCCAGTTGCTGATCCCAACAAAAGGTCCAAAAAG
GGCCGATTATCTTTACATAGGACGCCAGCAGGGAATTTTGTTACACTGGAGGAAGGAAAAGGAGACCTTGAGGAATATGGTCAGGATCTTCTCCATACTG
TCTTCAAGAATGGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCACAGCTGAATATTGAACTGGAAGCAGCACATCATTAGGCTTT
ATGACTGGGTGTGTGTTGTGTGTATGTAATACATAATGTTTATTGTACAGATGTGTGGGGTTTGTGTTTTATGATACATTACAGCCAAATTATTTGTTGG
TTTATGGACATACTGCCCTTTCATTTTTTTTCTTTTCCAGTGTTTAGGTGATCTCAAATTAGGAAATGCATTTAACCATGTAAAAGATGAGTGCTAAAGT
AAGCTTTTTAGGGCCCTTTGCCAATAGGTAGTCATTCAATCTGGTATTGATCTTTTCACAAATAACAGAACTGAGAAACTTTTATATATAACTGATGATC
ACATAAAACAGATTTGCATAAAATTACCATGATTGCTTTATGTTTATATTTAACTTGTATTTTTGTACAAACAAGATTGTGTAAGATATATTTGAAGTTT
CAGTGATTTAACAGTCTTTCCAACTTTTCATGATTTTTATGAGCACAGACTTTCAAGAAAATACTTGAAAATAAATTACATTGCCTTTTGTCCATTAATC
AGCAAATAAAACATGGCCTTAACAAAGTTGTTTGTGTTATTGTACAATTTGAAAATTATGTCGGGACATACCCTATAGAATTACTAACCTTACTGCCCCT
TGTAGAATATGTATTAATCATTCTACATTAAAGAAAATAATGGTTCTTACTGGAATGTCTAGGCACTGTACAGTTATTATATATCTTGGTTGTTGTATTG
TACCAGTGAAATGCCAAATTTGAAAGGCCTGTACTGCAATTTTATATGTCAGAGATTGCCTGTGGCTCTAATATGCACCTCAAGATTTTAAGGAGATAAT
GTTTTTAGAGAGAATTTCTGCTTCCACTATAGAATATATACATAAATGTAAAATACTTACAAAAGTGGAAGTAGTGTATTTTAAAGTAATTACACTTCTG
AATTTATTTTTCATATTCTATAGTTGGTATGACTTAAATGAATTACTGGAGTGGGTAGTGAGTGTACTTAAATGTTTCAATTCTGTTATATTTTTTATTA
AGTTTTTAAAAAATTAAATTGGATATTAAATTGTATGGACATCATTTATTAATTTTAAACTGAATGCCCTCAATAAGTAATACTGAAGCACATTCTTAAA
TGAAGATAAATTATCTCCAATGAAAAGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAG
TGATTAGCTACTAGATTCTGAATCAKACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAG
CGGTTGGCCAACTATAGCCCAAAGGCCAAATTTGGACTTCTTTTTATAAATGCAGATTGTCTATGGCTGCTTTCCCACTACTCCAGCCTAAGGTAAACAG
CTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAATYACACAAAAAGTTTCCTGATCTCTGTTCTAAGA
AAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGATACGGAATTTTCCTCTTTTGTCTTCTTTTTTC
TCACTTAAGAATCCGATACTGGAAGACTGATTTAGAAAAGTTTTTAACATGACATTAAATGTGAAATTTTAAAAATTGAAAAGCCATAAATCATCTGTTT
TAAATAGTTACATGAGAAAATGATCACTAGAATAACCTAATTAGAAGTGTTATCTTCATTAAATGTTTTTTGTAAGTGGTATTAGAAAGAATATGTTTTT
CAGATGGTTCTTTAAACATGTAGTGAGAACAATAAGCATTATTCACTTTTAGTAAGTCTTCTGTAATCCATGATATAAAATAATTTTAAAATGATTTTTT
AATGTATTTGAGTAAAGATGAGTAGTATTAAGAAAAACACACATTTCTTCACAAAATGTGCTAAGGGGCGTGTAAAGAATCAAAAGAAACTATTACCAAT
AATAGTTTTGATAATCACCCATAATTTTGTGTTTAAACATTGAAATTATAGTACAGACAGTATTCTCTGTGTTCTGTGAATTTCAGCAGCTTCAGAATAG
AGTTTAATTTAGAAATTTGCAGTGAAAAAAGCTATCTCTTTGTTCACAACCATAAATCAGGAGATGGAGATTAATTCTATTGGCTCTTAGTCACTTGGAA
CTGATTAATTCTGACTTTCTGTCACTAAGCACTTGGTATTTGGCCATCTCCATTCTGAGCACCAAACGGTTAACACGAATGTCCACTAGAACTCTGCTGT
GTGTCACCCTTAAATCAGTCTAAATCTTCCAGACAAAAGCAAATGGCATTTATGGATTTAAGTCATTAGATTTTCAACTGACATTAATTAATCCCTCTTG
ATTGATTATATCATCAAGTATTTATATCTTAAATAGGAGGTAGGATTTCTGTGTTAAGACTCTTATTTGTACCCTATAATTAAAGTAAAATGTTTTTTAT
GAGTATCCCTTGTTTTCCCTTCTTAAATTGTTATCAAACAATTTTTATAATGAAATCTATCTTGGAAAATTAGAAAGAAAAATGGCAAGGTATTTATTGT
TCTGTTTGCCATAATTTAGAACTCACACTTAAGTATTTTGTAGTTTTACATTCCTTTTTAACCCATTCAGTGGAGAATGTCAGCTTTTCTCCCAAGTTGT
ATGTTAAGTCTATTCTAATATGTACTCAACATCAAGTTATAAACATGTAATAAACATGGAAATAAAGTTTAGCTCTATTAGTGAAGT

Protein Sequence    (SEQ ID NO:839):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNAQLNIELEAAHH


SNP Information

Context             (SEQ ID NO:3385):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTA
Celera SNP ID:            hCV2673293
SNP Position Transcript:  1022
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:839, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:839, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3386):
TGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAAT
Y
ACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGA
Celera SNP ID:            hCV26937662
SNP Position Transcript:  3068
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   POOLE|_CEPH(T,67|C,121)   total(C,121|T,67)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:839, None   



Context             (SEQ ID NO:3387):
AGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCA
K
ACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGC
Celera SNP ID:            hCV7590634
SNP Position Transcript:  2826
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:839, None   



Context             (SEQ ID NO:3388):
GAGGATCAGGAGGGACAAGAGGGATGGAGGCGAAAGGCTGGATCCTTAATCCAGGCCGGAGACAAAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  106
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:839, None   



Gene Number:                 66
Celera Gene:                 hCG18025 - 79000075537942
Celera Transcript:           hCT9080 - 79000075540974
Public Transcript Accession: NM_005746
Celera Protein:              hCP36012 - 197000069468588
Public Protein Accession:    NP_005737
Gene Symbol:                 PBEF
Protein Name:                pre-B-cell colony-enhancing factor
Celera Genomic Axis:         GA_x5YUV32W188(3453016..3489920)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:143):
GCTGCCGCGCCCCGCCCTTTCTCGGCCCCCGGAGGGTGACGGGGTGAAGGCGGGGGAACCGAGGTGGGGAGTCCGCCAGAGCTCCCAGACTGCGAGCACG
CGAGCCGCCGCAGCCGTCACCCGCGCCGCGTCACGGCTCCCGGGCCCGCCCTCCTCTGACCCCTCCCCTCTCTCCGTTTCCCCCTCTCCCCCTCCTCCGC
CGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTGWCCTCC
GGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAACACAAG
CAAAGTTTATTCCTACTTTGAATGCCGTGAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTATGGGTTGCAGTAC
ATTCTTAATAAGTACTTAAAAGGTAAAGTAGTAACCAAAGAGAAAATCCAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGATGTCTTTAATG
AAAAGGGATGGAACTACATTCTTGAGAAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCTGAGGGCTTTGTCATTCCCAGAGGAAATGTTCT
CTTCACGGTGGAAAACACAGATCCAGAGTGTTACTGGCTTACAAATTGGATTGAGACTATTCTTGTTCAGTCCTGGTATCCAATCACAGTGGCCACAAAT
TCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCTGGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGGCTACAGAGGAG
TCTCTTCCCAAGAGACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACAGTAGCAGGACTTGCTCTAATTAAAAAATATTA
TGGAACGAAAGATCCTGTTCCAGGCTATTCTGTTCCAGCAGCAGAACACAGTACCATAACAGCTTGGGGGAAAGACCATGAAAAAGATGCTTTTGAACAT
ATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATT
TAATAGTATCRAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAA
GTTTCCTGTTACTGAGAACTCAAAGGGTTACAAGTTGCTGCCACCTTATCTTAGAGTTATTCAAGGGGATGGAGTAGATATTAATACCTTACAAGAGATT
GTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTCGGTTCTGGTGGAGGTTTGCTACAGAAGTTGACAAGAGATCTCTTGAATTGTT
CCTTCAAGTGTAGCTATGTTGTAACTAATGGCCTTGGGATTAACGTCTTCAAGGACCCAGTTGCTGATCCCAACAAAAGGTCCAAAAAGGGCCGATTATC
TTTACATAGGACGCCAGCAGGGAATTTTGTTACACTGGAGGAAGGAAAAGGAGACCTTGAGGAATATGGTCAGGATCTTCTCCATACTGTCTTCAAGAAT
GGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCACAGCTGAATATTGAACTGGAAGCAGCACATCATTAGGCTTTATGACTGGGTG
TGTGTTGTGTGTATGTAATACATAATGTTTATTGTACAGATGTGTGGGGTTTGTGTTTTATGATACATTACAGCCAAATTATTTGTTGGTTTATGGACAT
ACTGCCCTTTCATTTTTTTTCTTTTCCAGTGTTTAGGTGATCTCAAATTAGGAAATGCATTTAACCATGTAAAAGATGAGTGCTAAAGTAAGCTTTTTAG
GGCCCTTTGCCAATAGGTAGTCATTCAATCTGGTATTGATCTTTTCACAAATAACAGAACTGAGAAACTTTTATATATAACTGATGATCACATAAAACAG
ATTTGCATAAAATTACCATGATTGCTTTATGTTTATATTTAACTTGTATTTTTGTACAAACAAGATTGTGTAAGATATATTTGAAGTTTCAGTGATTTAA
CAGTCTTTCCAACTTTTCATGATTTTTATGAGCACAGACTTTCAAGAAAATACTTGAAAATAAATTACATTGCCTTTTGTCCATTAATCAGCAAATAAAA
CATGGCCTTAACAAAGTTGTTTGTGTTATTGTACAATTTGAAAATTATGTCGGGACATACCCTATAGAATTACTAACCTTACTGCCCCTTGTAGAATATG
TATTAATCATTCTACATTAAAGAAAATAATGGTTCTTACTGGAATGTCTAGGCACTGTACAGTTATTATATATCTTGGTTGTTGTATTGTACCAGTGAAA
TGCCAAATTTGAAAGGCCTGTACTGCAATTTTATATGTCAGAGATTGCCTGTGGCTCTAATATGCACCTCAAGATTTTAAGGAGATAATGTTTTTAGAGA
GAATTTCTGCTTCCACTATAGAATATATACATAAATGTAAAATACTTACAAAAGTGGAAGTAGTGTATTTTAAAGTAATTACACTTCTGAATTTATTTTT
CATATTCTATAGTTGGTATGACTTAAATGAATTACTGGAGTGGGTAGTGAGTGTACTTAAATGTTTCAATTCTGTTATATTTTTTATTAAGTTTTTAAAA
AATTAAATTGGATATTAAATTGTATGGACATCATTTATTAATTTTAAACTGAATGCCCTCAATAAGTAATACTGAAGCACATTCTTAAATGAAGATAAAT
TATCTCCAATGAAAAGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTAC
TAGATTCTGAATCAKACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAA
CTATAGCCCAAAGGCCAAATTTGGACTTCTTTTTATAAATGCAGATTGTCTATGGCTGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAA
GCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAATYACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTG
CCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGATACGGAATTTTCCTCTTTTGTCTTCTTTTTTCTCACTTAAGAA
TCCGATACTGGAAGACTGATTTAGAAAAGTTTTTAACATGACATTAAATGTGAAATTTTAAAAATTGAAAAGCCATAAATCATCTGTTTTAAATAGTTAC
ATGAGAAAATGATCACTAGAATAACCTAATTAGAAGTGTTATCTTCATTAAATGTTTTTTGTAAGTGGTATTAGAAAGAATATGTTTTTCAGATGGTTCT
TTAAACATGTAGTGAGAACAATAAGCATTATTCACTTTTAGTAAGTCTTCTGTAATCCATGATATAAAATAATTTTAAAATGATTTTTTAATGTATTTGA
GTAAAGATGAGTAGTATTAAGAAAAACACACATTTCTTCACAAAATGTGCTAAGGGGCGTGTAAAGAATCAAAAGAAACTATTACCAATAATAGTTTTGA
TAATCACCCATAATTTTGTGTTTAAACATTGAAATTATAGTACAGACAGTATTCTCTGTGTTCTGTGAATTTCAGCAGCTTCAGAATAGAGTTTAATTTA
GAAATTTGCAGTGAAAAAAGCTATCTCTTTGTTCACAACCATAAATCAGGAGATGGAGATTAATTCTATTGGCTCTTAGTCACTTGGAACTGATTAATTC
TGACTTTCTGTCACTAAGCACTTGGTATTTGGCCATCTCCATTCTGAGCACCAAACGGTTAACACGAATGTCCACTAGAACTCTGCTGTGTGTCACCCTT
AAATCAGTCTAAATCTTCCAGACAAAAGCAAATGGCATTTATGGATTTAAGTCATTAGATTTTCAACTGACATTAATTAATCCCTCTTGATTGATTATAT
CATCAAGTATTTATATCTTAAATAGGAGGTAGGATTTCTGTGTTAAGACTCTTATTTGTACCCTATAATTAAAGTAAAATGTTTTTTATGAGTATCCCTT
GTTTTCCCTTCTTAAATTGTTATCAAACAATTTTTATAATGAAATCTATCTTGGAAAATTAGAAAGAAAAATGGCAAGGTATTTATTGTTCTGTTTGCCA
TAATTTAGAACTCACACTTAAGTATTTTGTAGTTTTACATTCCTTTTTAACCCATTCAGTGGAGAATGTCAGCTTTTCTCCCAAGTTGTATGTTAAGTCT
ATTCTAATATGTACTCAACATCAAGTTATAAACATGTAATAAACATGGAAATAAAGTTTAGCTCTATTAGTGAAGT

Protein Sequence    (SEQ ID NO:840):
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKIQEAKDVYKEHFQDDVFNEKG
WNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPITVATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSS
QETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGYSVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIV
SRSTQAPLIIRPDSGNPLDTVLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNAQLNIELEAAHH


SNP Information

Context             (SEQ ID NO:3389):
AGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGCTATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTATC
R
AGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACTGTGTTAAAGGTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTA
Celera SNP ID:            hCV2673293
SNP Position Transcript:  1211
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,13|G,27)   total(A,22|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:840, 301, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:840, 301, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3390):
TGCTTTCCCACTACTCCAGCCTAAGGTAAACAGCTGCAATAGAAGCCAAATGAGAATCGCAAAGCCCAAAATGTTTATTAACCTGCCCTTTACACAAAAT
Y
ACACAAAAAGTTTCCTGATCTCTGTTCTAAGAAAAGGAGTGTGCCTTGCATTTAAAAGGAAATGTTGGTTTCTAGGGAAGGGAGGAGGCTAAATAATTGA
Celera SNP ID:            hCV26937662
SNP Position Transcript:  3257
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   POOLE|_CEPH(T,67|C,121)   total(C,121|T,67)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:840, None   



Context             (SEQ ID NO:3391):
AGCATGACATGTGTTTCAATAGAAGAATCTTAAGTTGGCTAAATTCAAAGTGCTTGACATCAAAATGTTCTAGAGTGATTAGCTACTAGATTCTGAATCA
K
ACATCACATCTGACTAGAGACCAGTTTCTTTCGAATGATTCTTTTATGTATGTAGATCTGTTCTTCTGAGGCAGCGGTTGGCCAACTATAGCCCAAAGGC
Celera SNP ID:            hCV7590634
SNP Position Transcript:  3015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:840, None   



Context             (SEQ ID NO:3392):
CTCCGCCGACCGAGCAGTGACTTAAGCAACGGAGCGCGGTGAAGCTCATTTTTCTCCTTCCTCGCAGCCGCGCCAGGGAGCTCGCGGCGCGCGGCCCCTG
W
CCTCCGGCCCGAGATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAGGTTACTCACTATAAACAATATCCACCCAAC
Celera SNP ID:            hCV26937673
SNP Position Transcript:  295
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:840, None   



Gene Number:                 67
Celera Gene:                 hCG1810785 - 146000220705953
Celera Transcript:           hCT1950078 - 146000220705954
Public Transcript Accession: NM_021977
Celera Protein:              hCP1765809 - 197000069410643
Public Protein Accession:    NP_068812
Gene Symbol:                 LPA
Protein Name:                lipoprotein, Lp(a);AK38;LP
Celera Genomic Axis:         GA_x54KRFTF0F9(10032912..10114024)
Chromosome:                  Chr6
OMIM number:                 152200
OMIM Information:            APOLIPOPROTEIN(a);LPA


Transcript Sequence (SEQ ID NO:144):
ATGAACTACTGCAGGAATCCAGATGCTGTGGCAGCTCCTTATTGTTATACGAGGGATCCCGGTGTCAGGTGGGAGTACTGCAACCTGACGCAATGCTCAG
ACGCAGAAGGGACTGCCGTCGCGCCTCCGACTGTTACCCCGGTTCCAAGCCTAGAGGCTCCTTCCGAACAAGCACCAACTGAGCAAAGGCCTGGGGTGCA
GGAGTGCTACCACGGAAATGGACAGAGTTATCAAGGCACATACTTCATTACTGTCACAGGAAGAACCTGCCAAGCTTGGTCATCTATGACACCACACTCG
CATAGTCGGACCCCAGCATACTACCCAAATGCTGGCTTGATCAAGAACTACTGCCGAAATCCAGATCCTGTGGCAGCCCCTTGGTGTTATACAACAGATC
CCAGTGTCAGGTGGGAGTACTGCAACCTGACACGATGCTCAGATGCAGAATGGACTGCCTTCGTCCCTCCGAATGTTATTCTGGCTCCAAGCCTAGAGGC
TTTTTTTGAACAAGCACTGACTGAGGAAACCCCCGGGGTACAGGACTGCTACTACCATTATGGACAGAGTTACCGAGGCACATACTCCACCACTGTCACA
GGAAGAACTTGCCAAGCTTGGTCATCTATGACACCACACCAGCATAGTCGGACCCCAGAAAACTACCCAAATGCTGGCCTGASCAGGAACTACTGCAGGA
ATCCAGATGCTGAGATTCGCCCTTGGTGTTACACCATGGATCCCAGTGTCAGGTGGGAGTACTGCAACCTGACACAATGCCTGGTGACAGAATCAAGTGT
CCTTGCAACTCTCACGGTGGTCCCAGAYCCAAGCACAGAGGCTTCTTCTGAAGAAGCACCAACGGAGCAAAGCCCCGGGGTCCAGGATTGCTACCATGGT
GATGGACAGAGTTATCGAGGCTCATTCTCTACCACTGTCACAGGAAGGACATGTCAGTCTTGGTYCTCTATGACACCACACTGGCATCAGAGGACAACAG
AATATTATCCAAATGGTGGCCTGACCAGGAACTACTGCAGGAATCCAGATGCTGAGATTAGTCCTTGGTGTTATACCATGGATCCCAATGTCAGATGGGA
GTACTGCAACCTGACACAATGTCCAGTGACAGAATCAAGTGTCCTTGCGACGTCCACGGCTGTTTCTGAACAAGCACCAACGGAGCAAAGCCCCACAGTC
CAGGACTGCTACCATGGTGATGGACAGAGTTATCGAGGCTCATTCTCCACCACTGTTACAGGAAGGACATGTCAGTCTTGGTCCTCTATGACACCACACT
GGCATCAGAGAACCACAGAATACTACCCAAATGGTGGCCTGACCAGGAACTACTGCAGGAATCCAGATGCTGAGATTCGCCCTTGGTGTTATACCATGGA
TCCCAGTGTCAGATGGGAGTACTGCAACCTGACRCAATGTCCAGTGATGGAATCAACTSTCCTCACAACTCCCACGGTGGTCCCAGTTCCAAGCACAGAG
STTCCTTCTGAAGAAGCACCAACTGAAAACAGCACTGGGGTCCAGGACTGCTACCGAGGTGATRGACAGAGTTATCGAGGCMCACTCTCCACCACTATCA
CAGGAAGAACATGTCAGTCTTGGTCGTCTATGACACCACATTGGCATCGGAGGATCCCATTATACTATCCAAATGRTGGCCTGACCAGGAACTACTGCAG
GAATCCAGATGCTGAGATTCGCCCTTGGTGTTACACCATGGATCCCAGTGTCAGGTGGGAGTACTGCAACCTGACACGATGTCCAGTGACAGAATCGAGT
GTCCTCACAACTCCCACAGTGGCCCCGGTTCCAAGCACAGAGGCTCCTTCTGAACAAGCACCACCTGAGAAAAGCCCTGTGGTCCAGGATTGCTACCATG
GTGATGGAYGGAGTTATCGAGGCATATCCTCCACCACTGTCACAGGAAGGACCTGTCAATCTTGGTCATCTATGATACCACACTGGYATCAGAGGACCCC
AGAAAACTACCCAAATGCTGGCCTGACCGAGAACTACTGCAGGAATCCAGATTCTGGGAAACAACCCTGGTGTTACACAACCGATCCGTGTGTGAGGTGG
GAGTACTGCAATCTGACACAATGCTCAGAAACAGAATCAGGTGTCCTAGAGACTCCCACTGTTGTTCCAGTTCCAAGCAYGGAGGCTCATTCTGAAGCAG
CACCAACTGAGCAAACCCCTGTGGTCCGGCAGTGCTACCATGGTAATGGCCAGAGTTATCGAGGCACATTCTCCACCACTGTCACAGGAAGGACATGTCA
ATCTTGGTCATCCATGACACCACACCGGCATCAGAGGACCCCAGAAAACTACCCAAATGATGGCCTGACAATGAACTACTGCAGGAATCCAGATGCCGAT
ACAGGCCCTTGGTGTTTTACCAYGGACCCCAGCATCAGGTGGGAGTACTGCAACCTGACGCGATGCTCAGACACAGAAGGGACTGTGGTCGCTCCTCCGA
CTGTCATCCAGGTTCCAAGCCTAGGGCCTCCTTCTGAACAAGAYTGTATGTTTGGGAATGGGAAAGGATACCGGGGCAAGAARGCAACCACTGTTACTGG
GACGCCATGCCAGGAATGGGCTKCCCAGGAGCCCCATAGACACAGCACRTTCATTCCAGGGACAAATAAATGGGCAGGTCTGGAAAAAAATTACTGCCGT
AACCCTGATGGTGACATCAATGGTCCCTGGTGCTACACAATGAATCCAAGAAAACTTTTTGACTACTGTGATATCCCTCTCTGTGCATCCTCTTCATTTG
ATTGTGGGAAGCCTCAAGTGGAGCCGAAGAAATGTCCTGGAAGCATTGTAGSGGKGTGTGTGGCCCACCCACATTCCTGGCCCTGGCAAGTCAGTCTCAG
AACAAGGTTTGGAAAGCACTTCTGTGGAGGCACCTTAATATCCCCAGAGTGGGTGCTGACTGCTGCTCACTGCTTGAAGAAGTCCTCAAGGCCTTCATCC
TACAAGGTCATCCTGGGTGCACACCAAGAAGTGAACCTCGAATCTCATGTTCAGGAAATRGAAGTGTCTAGGCTGTTCTTGGAGCCCACACAAGCAGATA
TTGCCTTGCTAAAGCTAAGCAGGCCTGCCGTCATCACTGACAAAGTAATGCCAGCTTGTCTGCCATCCCCAGACTACATGGTCACCGCCAGGACTGAATG
TTACATCACTGGCTGGGGAGAAACCCAAGGTACCTTTGGGACTGGCCTTCTCAAGGAAGCCCAGCTCCTTGTTATTGAGAATGAAGTGTGCAATCACTAT
AAGTATATTTGTGCTGAGCATTTGGCCAGAGGCACTGACAGTTGCCAGGGTGACAGTGGAGGGCCTCTGGTTTGCTTCGAGAAGGACAAATACATTTTAC
AAGGAGTCACTTCTTGGGGTCTTGGCTGTGCAYGCCCCAATAAGCCTGGTGTCTATGCTCGTGTTTCAAGGTTTGTTACTTGGATTGAGGGAATGATGAG
AAATAATTAATTGGACGGGAGACAGAGTGAAGCATCAACCTACTTAGAAGCTGAAACGTGGGTAAGGATTTAGCATGCTGGAAATAATAGACAGCAATCA
AACGAAGACACTGTTCCCAGCTACCAGCTATGCCAAACCTTGGCATTTTTGGTATTTTTGTGTATAAGCTTTTAAGGTCTGACTGACAAATTCTGTATTA
AGGTGTCATAGCTATGACATTTGTTAAAAATAAACTCTGCACTTATTTTGATTTGA

Protein Sequence    (SEQ ID NO:841):
MNYCRNPDAVAAPYCYTRDPGVRWEYCNLTQCSDAEGTAVAPPTVTPVPSLEAPSEQAPTEQRPGVQECYHGNGQSYQGTYFITVTGRTCQAWSSMTPHS
HSRTPAYYPNAGLIKNYCRNPDPVAAPWCYTTDPSVRWEYCNLTRCSDAEWTAFVPPNVILAPSLEAFFEQALTEETPGVQDCYYHYGQSYRGTYSTTVT
GRTCQAWSSMTPHQHSRTPENYPNAGLTRNYCRNPDAEIRPWCYTMDPSVRWEYCNLTQCLVTESSVLATLTVVPDPSTEASSEEAPTEQSPGVQDCYHG
DGQSYRGSFSTTVTGRTCQSWSSMTPHWHQRTTEYYPNGGLTRNYCRNPDAEISPWCYTMDPNVRWEYCNLTQCPVTESSVLATSTAVSEQAPTEQSPTV
QDCYHGDGQSYRGSFSTTVTGRTCQSWSSMTPHWHQRTTEYYPNGGLTRNYCRNPDAEIRPWCYTMDPSVRWEYCNLTQCPVMESTLLTTPTVVPVPSTE
LPSEEAPTENSTGVQDCYRGDGQSYRGTLSTTITGRTCQSWSSMTPHWHRRIPLYYPNAGLTRNYCRNPDAEIRPWCYTMDPSVRWEYCNLTRCPVTESS
VLTTPTVAPVPSTEAPSEQAPPEKSPVVQDCYHGDGRSYRGISSTTVTGRTCQSWSSMIPHWHQRTPENYPNAGLTENYCRNPDSGKQPWCYTTDPCVRW
EYCNLTQCSETESGVLETPTVVPVPSMEAHSEAAPTEQTPVVRQCYHGNGQSYRGTFSTTVTGRTCQSWSSMTPHRHQRTPENYPNDGLTMNYCRNPDAD
TGPWCFTMDPSIRWEYCNLTRCSDTEGTVVAPPTVIQVPSLGPPSEQDCMFGNGKGYRGKKATTVTGTPCQEWAAQEPHRHSTFIPGTNKWAGLEKNYCR
NPDGDINGPWCYTMNPRKLFDYCDIPLCASSSFDCGKPQVEPKKCPGSIVGGCVAHPHSWPWQVSLRTRFGKHFCGGTLISPEWVLTAAHCLKKSSRPSS
YKVILGAHQEVNLESHVQEIEVSRLFLEPTQADIALLKLSRPAVITDKVMPACLPSPDYMVTARTECYITGWGETQGTFGTGLLKEAQLLVIENEVCNHY
KYICAEHLARGTDSCQGDSGGPLVCFEKDKYILQGVTSWGLGCARPNKPGVYARVSRFVTWIEGMMRNN


SNP Information

Context             (SEQ ID NO:3393):
TACTCCACCACTGTCACAGGAAGAACTTGCCAAGCTTGGTCATCTATGACACCACACCAGCATAGTCGGACCCCAGAAAACTACCCAAATGCTGGCCTGA
S
CAGGAACTACTGCAGGAATCCAGATGCTGAGATTCGCCCTTGGTGTTACACCATGGATCCCAGTGTCAGGTGGGAGTACTGCAACCTGACACAATGCCTG
Celera SNP ID:            hCV25929266
SNP Position Transcript:  683
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,5)   caucasian(C,36)   total(C,65|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 228, (T,ACC)   (S,AGC)   



Context             (SEQ ID NO:3394):
TGTTTGGGAATGGGAAAGGATACCGGGGCAAGAAGGCAACCACTGTTACTGGGACGCCATGCCAGGAATGGGCTGCCCAGGAGCCCCATAGACACAGCAC
R
TTCATTCCAGGGACAAATAAATGGGCAGGTCTGGAAAAAAATTACTGCCGTAACCCTGATGGTGACATCAATGGTCCCTGGTGCTACACAATGAATCCAA
Celera SNP ID:            hCV25931084
SNP Position Transcript:  2649
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:841, 883, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3395):
CACCGGCATCAGAGGACCCCAGAAAACTACCCAAATGATGGCCTGACAATGAACTACTGCAGGAATCCAGATGCCGATACAGGCCCTTGGTGTTTTACCA
Y
GGACCCCAGCATCAGGTGGGAGTACTGCAACCTGACGCGATGCTCAGACACAGAAGGGACTGTGGTCGCTCCTCCGACTGTCATCCAGGTTCCAAGCCTA
Celera SNP ID:            hCV11285390
SNP Position Transcript:  2423
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,19|T,13)   total(C,54|T,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 808, (T,ACG)   (M,ATG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;Northern Ireland, France, Scotland(T,660|C,1340)      total(C,1340|T,660);no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 808, (T,ACG)   (M,ATG)      808, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:3396):
AGGGCCTCCTTCTGAACAAGACTGTATGTTTGGGAATGGGAAAGGATACCGGGGCAAGAAGGCAACCACTGTTACTGGGACGCCATGCCAGGAATGGGCT
K
CCCAGGAGCCCCATAGACACAGCACGTTCATTCCAGGGACAAATAAATGGGCAGGTCTGGAAAAAAATTACTGCCGTAACCCTGATGGTGACATCAATGG
Celera SNP ID:            hCV25931531
SNP Position Transcript:  2623
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,38)   total(G,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 875, (A,GCC)   (S,TCC)   



Context             (SEQ ID NO:3397):
CACTGACAGTTGCCAGGGTGACAGTGGAGGGCCTCTGGTTTGCTTCGAGAAGGACAAATACATTTTACAAGGAGTCACTTCTTGGGGTCTTGGCTGTGCA
Y
GCCCCAATAAGCCTGGTGTCTATGCTCGTGTTTCAAGGTTTGTTACTTGGATTGAGGGAATGATGAGAAATAATTAATTGGACGGGAGACAGAGTGAAGC
Celera SNP ID:            hCV27464218
SNP Position Transcript:  3433
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 1145, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:3398):
GGATTGCTACCATGGTGATGGACGGAGTTATCGAGGCATATCCTCCACCACTGTCACAGGAAGGACCTGTCAATCTTGGTCATCTATGATACCACACTGG
Y
ATCAGAGGACCCCAGAAAACTACCCAAATGCTGGCCTGACCGAGAACTACTGCAGGAATCCAGATTCTGGGAAACAACCCTGGTGTTACACAACCGATCC
Celera SNP ID:            hCV25926037
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 663, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:3399):
GAATCCAGATGCTGAGATTCGCCCTTGGTGTTATACCATGGATCCCAGTGTCAGATGGGAGTACTGCAACCTGACGCAATGTCCAGTGATGGAATCAACT
S
TCCTCACAACTCCCACGGTGGTCCCAGTTCCAAGCACAGAGCTTCCTTCTGAAGAAGCACCAACTGAAAACAGCACTGGGGTCCAGGACTGCTACCGAGG
Celera SNP ID:            hCV25929478
SNP Position Transcript:  1459
SNP Source:               Applera
Population(Allele,Count): african american(C,17|G,19)   caucasian(C,34|G,6)   total(C,51|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 487, (L,CTC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 487, (L,CTC)   (V,GTC)      



Context             (SEQ ID NO:3400):
AGTACTGCAACCTGACGCGATGCTCAGACACAGAAGGGACTGTGGTCGCTCCTCCGACTGTCATCCAGGTTCCAAGCCTAGGGCCTCCTTCTGAACAAGA
Y
TGTATGTTTGGGAATGGGAAAGGATACCGGGGCAAGAAGGCAACCACTGTTACTGGGACGCCATGCCAGGAATGGGCTGCCCAGGAGCCCCATAGACACA
Celera SNP ID:            hCV25931644
SNP Position Transcript:  2544
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,38)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:841, 848, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3401):
GTGGCCTGACCAGGAACTACTGCAGGAATCCAGATGCTGAGATTCGCCCTTGGTGTTATACCATGGATCCCAGTGTCAGATGGGAGTACTGCAACCTGAC
R
CAATGTCCAGTGATGGAATCAACTCTCCTCACAACTCCCACGGTGGTCCCAGTTCCAAGCACAGAGCTTCCTTCTGAAGAAGCACCAACTGAAAACAGCA
Celera SNP ID:            hCV25929926
SNP Position Transcript:  1434
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:841, 478, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3402):
CCCAGTTCCAAGCACAGAGCTTCCTTCTGAAGAAGCACCAACTGAAAACAGCACTGGGGTCCAGGACTGCTACCGAGGTGATGGACAGAGTTATCGAGGC
M
CACTCTCCACCACTATCACAGGAAGAACATGTCAGTCTTGGTCGTCTATGACACCACATTGGCATCGGAGGATCCCATTATACTATCCAAATGCTGGCCT
Celera SNP ID:            hCV25925506
SNP Position Transcript:  1582
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|C,5)   total(A,73|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 528, (T,ACA)   (P,CCA)   



Context             (SEQ ID NO:3403):
GAGCAAAGCCCCGGGGTCCAGGATTGCTACCATGGTGATGGACAGAGTTATCGAGGCTCATTCTCTACCACTGTCACAGGAAGGACATGTCAGTCTTGGT
Y
CTCTATGACACCACACTGGCATCAGAGGACAACAGAATATTATCCAAATGGTGGCCTGACCAGGAACTACTGCAGGAATCCAGATGCTGAGATTAGTCCT
Celera SNP ID:            hCV27531060
SNP Position Transcript:  965
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 322, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:3404):
CACAACTCCCACGGTGGTCCCAGTTCCAAGCACAGAGCTTCCTTCTGAAGAAGCACCAACTGAAAACAGCACTGGGGTCCAGGACTGCTACCGAGGTGAT
R
GACAGAGTTATCGAGGCACACTCTCCACCACTATCACAGGAAGAACATGTCAGTCTTGGTCGTCTATGACACCACATTGGCATCGGAGGATCCCATTATA
Celera SNP ID:            hCV27531061
SNP Position Transcript:  1564
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 522, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:3405):
AACTCCCACAGTGGCCCCGGTTCCAAGCACAGAGGCTCCTTCTGAACAAGCACCACCTGAGAAAAGCCCTGTGGTCCAGGATTGCTACCATGGTGATGGA
Y
GGAGTTATCGAGGCATATCCTCCACCACTGTCACAGGAAGGACCTGTCAATCTTGGTCATCTATGATACCACACTGGCATCAGAGGACCCCAGAAAACTA
Celera SNP ID:            hCV27531062
SNP Position Transcript:  1909
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 637, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:3406):
CTTTTTGACTACTGTGATATCCCTCTCTGTGCATCCTCTTCATTTGATTGTGGGAAGCCTCAAGTGGAGCCGAAGAAATGTCCTGGAAGCATTGTAGGGG
K
GTGTGTGGCCCACCCACATTCCTGGCCCTGGCAAGTCAGTCTCAGAACAAGGTTTGGAAAGCACTTCTGTGGAGGCACCTTAATATCCCCAGAGTGGGTG
Celera SNP ID:            hCV25929122
SNP Position Transcript:  2855
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,5)   caucasian(G,38)   total(G,67|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 952, (G,GGG)   (V,GTG)   



Context             (SEQ ID NO:3407):
CGAGGCACACTCTCCACCACTATCACAGGAAGAACATGTCAGTCTTGGTCGTCTATGACACCACATTGGCATCGGAGGATCCCATTATACTATCCAAATG
R
TGGCCTGACCAGGAACTACTGCAGGAATCCAGATGCTGAGATTCGCCCTTGGTGTTACACCATGGATCCCAGTGTCAGGTGGGAGTACTGCAACCTGACA
Celera SNP ID:            hCV25925349
SNP Position Transcript:  1676
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:841, None



Context             (SEQ ID NO:3408):
CTGTGGTCGCTCCTCCGACTGTCATCCAGGTTCCAAGCCTAGGGCCTCCTTCTGAACAAGACTGTATGTTTGGGAATGGGAAAGGATACCGGGGCAAGAA
R
GCAACCACTGTTACTGGGACGCCATGCCAGGAATGGGCTGCCCAGGAGCCCCATAGACACAGCACGTTCATTCCAGGGACAAATAAATGGGCAGGTCTGG
Celera SNP ID:            hCV25931587
SNP Position Transcript:  2583
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:841, 861, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:3409):
GTTACACCATGGATCCCAGTGTCAGGTGGGAGTACTGCAACCTGACACAATGCCTGGTGACAGAATCAAGTGTCCTTGCAACTCTCACGGTGGTCCCAGA
Y
CCAAGCACAGAGGCTTCTTCTGAAGAAGCACCAACGGAGCAAAGCCCCGGGGTCCAGGATTGCTACCATGGTGATGGACAGAGTTATCGAGGCTCATTCT
Celera SNP ID:            hCV25928241
SNP Position Transcript:  828
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,37)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:841, 276, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3410):
AAACTTTTTGACTACTGTGATATCCCTCTCTGTGCATCCTCTTCATTTGATTGTGGGAAGCCTCAAGTGGAGCCGAAGAAATGTCCTGGAAGCATTGTAG
S
GGGGTGTGTGGCCCACCCACATTCCTGGCCCTGGCAAGTCAGTCTCAGAACAAGGTTTGGAAAGCACTTCTGTGGAGGCACCTTAATATCCCCAGAGTGG
Celera SNP ID:            hCV25929140
SNP Position Transcript:  2852
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,38)   total(C,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 951, (A,GCG)   (G,GGG)   



Context             (SEQ ID NO:3411):
ACCGATCCGTGTGTGAGGTGGGAGTACTGCAATCTGACACAATGCTCAGAAACAGAATCAGGTGTCCTAGAGACTCCCACTGTTGTTCCAGTTCCAAGCA
Y
GGAGGCTCATTCTGAAGCAGCACCAACTGAGCAAACCCCTGTGGTCCGGCAGTGCTACCATGGTAATGGCCAGAGTTATCGAGGCACATTCTCCACCACT
Celera SNP ID:            hCV25930985
SNP Position Transcript:  2180
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(T,40)   total(C,4|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 727, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:3412):
TCCCAGTGTCAGATGGGAGTACTGCAACCTGACGCAATGTCCAGTGATGGAATCAACTCTCCTCACAACTCCCACGGTGGTCCCAGTTCCAAGCACAGAG
S
TTCCTTCTGAAGAAGCACCAACTGAAAACAGCACTGGGGTCCAGGACTGCTACCGAGGTGATGGACAGAGTTATCGAGGCACACTCTCCACCACTATCAC
Celera SNP ID:            hCV25929408
SNP Position Transcript:  1501
SNP Source:               Applera
Population(Allele,Count): african american(C,18|G,20)   caucasian(C,34|G,6)   total(C,52|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 501, (L,CTT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 501, (L,CTT)   (V,GTT)      



Context             (SEQ ID NO:3413):
CTGCTGCTCACTGCTTGAAGAAGTCCTCAAGGCCTTCATCCTACAAGGTCATCCTGGGTGCACACCAAGAAGTGAACCTCGAATCTCATGTTCAGGAAAT
R
GAAGTGTCTAGGCTGTTCTTGGAGCCCACACAAGCAGATATTGCCTTGCTAAAGCTAAGCAGGCCTGCCGTCATCACTGACAAAGTAATGCCAGCTTGTC
Celera SNP ID:            hCV25930271
SNP Position Transcript:  3060
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,36|G,2)   total(A,73|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 1020, (I,ATA)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:841, 1020, (I,ATA)   (M,ATG)      



Gene Number:                 68
Celera Gene:                 hCG1810849 - 149000145732339
Celera Transcript:           hCT1950332 - 149000145732340
Public Transcript Accession: 
Celera Protein:              hCP1752338 - 197000069364146
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VTB5(5086634..5259882)
Chromosome:                  Chr16
OMIM number:                 600761
OMIM Information:            SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT;SCNN1G


Transcript Sequence (SEQ ID NO:145):
GAAAGAGAGAAAGAGAGACAGAGGGAGAAAGAGAGAAAGAGAGAGAAAGGAAGGAAGGTAGGAAAGAAGGAGAAGGGAAGGGAAGGAGGGAGGAAGGAAG
GAAGGAAAAGGAAGAAGGAAGGAAGGAAAAGAAAAGAAAAGAAGAAAGGAAGGAAGGAAGGCAAGAAGAAAGGAAGAGAGAAAGAGAAAGAAAGAGAAAG
AAAAAAGAGAGAAAGAAGAAAGAAGCCCGGCGTGGCGGGGCTCCGCAACCACGGCAACACGTGCTTCATGAACGCCACGCTGCAGTGCCTCAGCAACACC
GAGCTCTTCGCCGAGTACCTGGCGCTGGGCCAGTACCGGGCGGGGCGGCCCGAGCCCTCGCCTGACCCGGAGCAGCCTGCGGGCCGCGGCGCGCAGGGCC
AGGGCGAGGTCACTGAGCAGCTGGCGCACCTGGTGCGGGCCCTCTGGACCCTGGAGTACACCCCGCAGCACAGCCGCGACTTCAAGACTATTGTGTCAAA
GAATGCACTGCAGTACCGGGGAAATTCCCAACATGATGCCCAGGAGTTTCTGCTGTGGCTTTTGGACCGAGTTCATGAAGACCTCAACCATTCAGTGAAG
CAGAGTGGCCAGCCTCCTCTGAAGGTAAGGACGCATGCTGCCCTAGGGCAGTCAGCCAGCCATGAGAGTGTGCCTCTCTATGTCACTGTAGTGTATCAAG
GCAAATGTTCTCACTGCATGAGGATTGGTGTGGCCGTACCTCTGTCTGGGACTGTCGCCAGACTTCGGGAAGCAGTGTCTATGGAAACAAAGATCCCCAC
TGATCAGATTGTGTTAACAGAAATGTACTATGATGGGTTCCATCGTTCCTTTTGTGATACAGACGACCTGGAAACAGTCCATGAAAGCGACTGCATTTTT
GCCTTTGAGACTCCCGAAATATTTAGGCCTGAAGGAATTCTCAGTCAAAGAGGAATTCATTTAAACAACAACCTAAACCACTTGAAATTTGGCTTGGATT
ATCATAGACTGTCTTCTCCTACACAAACAGCAGCAAAGCAGGGGAAAATGKATTCTCCCACATCAAGAGCAGGCAGCGACAAGATTGTCCTGTTGGTGTG
TAACCGAGCCTGCACTGGGCAACAAGGGAAAAGGGCATTAAAATCTTGTGGACCAGGTGGCACTRCTCATGTGAAATTAGTAGTCGAGTGGGACAAGGAG
ACAAGAGATTTCTTATTTGTAAATACTGAGGATGAGTATATTCCTGATGCAGAAAGTGTTCGTCTGCAAAGGGAGCGTCATCATCAGCCTCAAACCTGCA
CTTTATCCCAGTGTTTCCAACTGTACACCAAAGAGGAGCGGCTTGCCCCCGATGATGCCTGGCGTTGCCCACACTGTAAGCAGCTGCAGCAGGGAAGCAT
TACRTTAAGCCTCTGGACTCTGCCTGATGTGCTTATTATACATCTAAAGAGATTTCGGCAGGAAGGAGACAGGCGCATGAAACTTCAGAACATGGTCAAA
TTCCCCTTGACTGGCCTGGACATGACACCTCACGTGGTTAAGAGGAGCCAGAGCAGCTGGAGTTTGCCATCGCATTGGTCCCCGTGGAGACGGCCCTATG
GACTCGGGAGGGACCCTGAGGACTACATCTATGACCTGTATGCTGTGTGCAATCACCATGGCACCATGCAAGGGGGGCACTACACAGCGTACTGTAAGAA
CTCTGTGGACGGCCTCTGGTACTGCTTCGATGACAGCGATGTGCAGCAGCTGTCAGAAGATGAGGTCTGCACGCAGACAGCATACATCCTCTTCTACCAG
AGGCGGACAGCCATCCCGTCATGGTCAGCCAACAGCTCGGTGGCAGGCTCCACAAGTTCTTCCCTGTGTGAACACTGGGTGAGCCGGCTCCCGGGCAGCA
AGCCAGCCAGCGTGACCTCTGCAGCTTCCTCCAGACGCACCTCCCTGGCGTCGCTCTCTGAGTCCGTGGAGATGACTGGAGAAAGGAGTGAAGATGATGG
AGGCTTTTCAACTCGACCATTTGTGAGAAGTGTCCAGCGTCAGAGTTTGTCATCCAGATCTTCTGTCACCAGCCCCTTGGCCGTCAATGAAAATTGCATG
AGACCTTCATGGTCCCTGTCTGCTAAGCTGCAGATGCGCTCCAATTCTCCATCCCGATTTTCAGGGGATTCGCCAATTCACAGCTCTGCTTCCACCTTGG
AGAAGATTGGGGAGGCAGCAGATGACAAGGTCTCCATCTCTTGCTTTGGTAGCTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAG
TCKCCGTGAGCACAAGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGCRTGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTA
GATACACAGAGCAAACATTCAGCACAAGGGGACCGCCTGCCCCCGCTCTCTGGTCCATTTGATAACAATAATCAGATCGCTTATGTGGATCAGAGCGACT
CCGTAGACAGCTCTCCAGTCAAAGAGGTGAAAGCCCCCAGCCACCCAGGCTCACTCGCAAAGAAACCAGAGAGCACAACTAAGAGATCCCCCAGTTCCAA
AGGCACTTCTGAGCCAGAGAAAAGCTTGCGGAAGGGGAGACCAGCCTTGGCAAGCCAGGAGTCATCCCTTTCAAGTACATCCCCTTCTTCTCCTCTTCCT
GTAAAAGTCTCTCTAAAGCCCTCCCGCTCCCGCAGCAAAGCAGATTCTTCTTCCAGGGGCAGTGGACGGCATTCATCCCCTGCCCCTGCCCAACCCAAAA
AGGAGTCATCCCCGAAATCTCAGGACTCCGTGTCATCTCCTTCGCCACAGAAGCAGAAGTCAGCCTCGGCCCTCACCTACACTGCTTCCTCCACATCTGC
CAAAAAGGCCTCGGGCCCTGCCACAAGGAGCCCTTTCCCACCTGGGAAGAGCAGGACTTCAGACCACAGCTTGAGTAGAGAGGGCTCCAGACAAAGCTTG
GGTTCTGACAGAGCCAGCGCCACCTCCACCTCCAAACCCAATTCCCCTCGGGTGAGCCAGGCCCGAGCAGGGGAGGGCAGGGGGGCCGGGAAGCACGTGC
GGAGCTCCTCCATGGCCAGCCTGCGCTCCCCCAGCACAAGCATCAAGTCTGGTTTGAAGAGGGACAGCAAGTCTGAGGACAAGGGGCTGTCCTTCTTCAA
ATCAGCCTTGAGACAGAAGGAAACCCGGCGCTCGACGGATCTTGGCAAGACAGCCTTGCTCTCTAAAAAGGCTGGTGGGAGCTCTGTTAAGTCTGTCTGT
AAGAACACCGGGGACRACGAGGCAGAGAGAGGCCACCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGG
ACCCTGCTTCTGCCAAACATTCCCTGCTGTCCGCTYGCAAATCCAAGTCTTCCCAACTAGACTCTGGAGTTCCCTCGTCTCCGGGTGGCAGGCAGTCTGC
AGAGAAATCCTCAAAAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATCRAAGTGTTTTATCTGTA
AAGATGTTTRTTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGACKGTGTGTGTGTGTG
TGAGTGTATGCGTGTGTGTGTCTAATTCAATTGCAAATTGTTCAAAGCGTCGCCTTATTCTGCCATTGAACCAAATAACAGCCATAGGCAAAACATTGAC
ACCAAGCTAACTGGAATAATTGTAGACGATACCCAGGACGGTCCCTTTAGCAATTGTACATATTTCTTTCTAGAGAACTCTAATGACTTTCTTTGGATAT
GAGGGTTTTGAAACCTGTGAACCAGAAAAGCTACCATTAGTGCGTARAAGGAGGAAGGAGCTGACTCGTGTTTCTTCTGAGCAGGACTTGTCCTTACTGT
GGATTGTGGGTGGCACCAGGAGCTCTAAAAACTGTGACTCTAACAACGAAACAAATCGAGGGAAAAACTCTTGCTTTCTGCACTTTCGCCCCATCTACCA
GTCTTTGTAAAGGGCAATATTTTAACACTAATGTTTCTCARGTATATACTCAGCTAGTCTAGGATGGTTGCACACCAGTAAATGGATTAAAGAGGAAGGT
GCCATGTGGGTGACTGTGTCATTTCTCCTACTGCCACAGATAGACATTTTCGAGGTAGAAATGAAGCCTTTCACCACCTTCCTATCTGTGGTGACATGTG
CACCAAAACCTGTCTTGACTCTTGGGATAGGTCCTAGGAAGTGGCAGATTGGATAGCCAGAAAGCCAGTCACTCGTTTAATTTTTTTTCCTTCTGAAATT
ACTAGCTAAGGCTCTTGGAATTTTGCACTGTAGTAGAGCAGTTAACACCTTTGACAGATTCCTGGAAAAAACTTCTAGATTCTAAACTGGGTGAAAGACT
GGACATCATTTTCCTTGTCAGGTGTTGCATTTTTCCGTTAGAGGTGGRAAGCTCCACGATGCCCTGTGTCTGTGGGCTCATGTTCCCTCATCTTGTAGCT
TGGAGAGGAAAGAAGTTGCCTTCTGCCAAAAGCCAATGGTGGTATGTTGAAGCGTTGTGTGATCAAGTGTTACATATGCACTTCAGATCCTGTCTGTCAG
TCTCTGTTAGGGCTGCCTTTCAGTAACTCATTTATTATTTCTTCTTTGTTCTTAAGATTTCATCTCATGCCCAGAACTCACAAGCAGGTTTTGGAGTGTG
TTCCATCTGGCCGTGTCAGTGCAAATTGCATTTCTTACAAAGGAGAACCTCACCAAAAAAAACCTCACAGATAAGCAAAGTATATAGTTTTGCAAGCTTT
TTCAAGGTCTCCTGGCAATACTTTCCTGCTCAATTTTTAGCTTTTCTTTTTTTTTTAAATGTCAAGAGAGTGAAGGTCTTGATTCTCTCTGAATAGCATT
TGTCACTTTGCCAGTAAATACAGCATGCTAAGTTTATGTGCTTTTAAATATTAGCGTTTTTCGTCAGACTCTTCAAGTTCTTCTTGAACCCTTGGTGCAC
AGATCCATATATAACCTCCCTTTTCAGTATTGCTGTGTGTGAATTAACTACAACACATATGCATGCATAGCTGTGAATTCTGCACTACYTTTTTTTTCTT
TTTTCCCCCCAAGAATATCTCTTGGGAAAAGTTTTTAGTACGTTACTTAACTTTATTTTGCTGCTAATTTGCGCATTAGCCGGTAACTTGCAAGTCTGGA
GACCACTTACTGTTGAGGGTAGCTGGAATTTTAGACCCTTGGCAGTATTTAAGATTTAGACATTTAGCCTTGTGAAAGTTACCACAGTGCTCCATGTGAT
TCATTGACTGTGAGCCTGTTGTCCATTGCACTCAGCCCTGTACTCACTTCTTYACTCGCTGTCCTGGTTTTACTGTTCAGATTTTGGTGGGTTCTCAAAG
CAGTACCACTCTCATCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATGCTGTCATTGCGTTCAGCCCAGCACATCACAGCYCCATCAGTGTGTAG
CCACCGCTCTCGTTTTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTCTAACTCAAACCTCT
CATTTTTGTTTARTAGGTAGATCTCATTTGAAGTCTCCTATCTGAATCTCTGAAACAATTATAGTTTGATTAGACAAAGGTTTTTAATAACACTTCTTTT
TTGCTGTAGTCAAGCATTAATAGAAACTAGTTTAATTTTCACAGTGGTAAATATTTTTATTCTTGAGTTATCTAGGAATGGATTTTCCACGATGTCTAGT
GACTTAAAAAAAAAAAGGAAAAACGTTTCTACAAATCCCTTTGGTTTTCCATGGGATCTGGAATAAAATGTCAGTGTCTATAAACTGTATGTCATGGAGT
TTAGTCCTTGTTTCAGGTTTAATAGAAAAAATCAGGAAGTATCATGGCATTGTCTAGACATCATGAAGCTATTTTATTTCCATAGTTGGTAAACAGTGAA
AATTTCATTATCTCCAACTACTAGGTACAACTTTAGGCCACAGGAAAGGTTATTTGGCCCGAAAGTTTGGAGGTGCTCCTTGAGGTGGGAAGTATCTTGT
GGGAAAGTAGTTACTTGATTCAATTTAGTTCATTGGTAGGGTTGGGGACTTGGTGTTGGTTTCTTTCTTTCTTTTCTTTTTTTTTTTTTTTTTAATTTTC
CCAGCAATATTTAGCACAATGAGCGTGTATGTGCTTTGGGGTTAAAAATTATCTGCTAGGGATGATAGGCCTGGGTTTCTCGTTGACATCTAGATGGGCC
TGATTAGAGCAGTCATCTCCTGGTAGGCACAAAATAATCACCAACAGTAATGTTGTATCTGTAATGTTTGTTTGCTTTTTAAAGTTTTATTCTTGATTTC
TTGTAAACATCCATTGCACTGAGGCCRTATCATTCCTTAAGACAGCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGG
CTCCAGTCATCTTAGACCATTTCCCATCCGTTTTGTATTTTCTCKTCCTGAAAGCAGCTGAACTGAAAGTAAGTAATAATATGCTGGACCAGTGGGAACG
GATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTTYTGCAATCTTGTTTTCATCATTCATTCTGCAAACGT
TTATGGAGGGCCTTCTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAGGAGCCCTGGGAGCACAGCCCATCAAGCAAGGGATG
TGATGGTGTCCTAAATGGAGTGACAGTTCTCCTGGGAAAAGAGATCACGTGGATTCCGGTCAAATCGGCTAAGGCTTGTGGTTCTCTTGAGCAAGTCTGT
TCCTTCTGGAAACCAAAAGTGCCCTTCATCTTTAGAGACATTTTACTCTTCCATCCACCTTTTCAGACTGAGCTGTCTCTACTATTTAGGGGTTGAAAAT
CCATTACACAGTCACTTTACGTTAACATTGGGTCATCTTATGTTTGTATGAGACGGATGTGGGATTTGAGGGGAACATTGTCATTCCCTTAAAATAACTA
TCATGAAAAAAATAGCAACAGTATGTAAAGGGACCAAGAGTGGCAGCYTTTAGGGAAAATGGAGCAGAGAAGAGCTGTGAACAAAGCTCATTTATTTGAA
ATAAGCGTGCTTTATTTCACATAGAGGGGCATCAGACGTTACATTTCATTCGGACAAATTACTGAACAGCCGAAGTGATTGTTTCCAATGTAGGTTATTA
TAATTATTGGATACAAAGATTTAACTAGTGTTTCTGGGTTGGATTTTTGAAATAGTATGCAAGTCATAAGCACAGTTTCAATAAAACACGTATTCTGGAG

Protein Sequence    (SEQ ID NO:842):
MNATLQCLSNTELFAEYLALGQYRAGRPEPSPDPEQPAGRGAQGQGEVTEQLAHLVRALWTLEYTPQHSRDFKTIVSKNALQYRGNSQHDAQEFLLWLLD
RVHEDLNHSVKQSGQPPLKVRTHAALGQSASHESVPLYVTVVYQGKCSHCMRIGVAVPLSGTVARLREAVSMETKIPTDQIVLTEMYYDGFHRSFCDTDD
LETVHESDCIFAFETPEIFRPEGILSQRGIHLNNNLNHLKFGLDYHRLSSPTQTAAKQGKMDSPTSRAGSDKIVLLVCNRACTGQQGKRALKSCGPGGTA
HVKLVVEWDKETRDFLFVNTEDEYIPDAESVRLQRERHHQPQTCTLSQCFQLYTKEERLAPDDAWRCPHCKQLQQGSITLSLWTLPDVLIIHLKRFRQEG
DRRMKLQNMVKFPLTGLDMTPHVVKRSQSSWSLPSHWSPWRRPYGLGRDPEDYIYDLYAVCNHHGTMQGGHYTAYCKNSVDGLWYCFDDSDVQQLSEDEV
CTQTAYILFYQRRTAIPSWSANSSVAGSTSSSLCEHWVSRLPGSKPASVTSAASSRRTSLASLSESVEMTGERSEDDGGFSTRPFVRSVQRQSLSSRSSV
TSPLAVNENCMRPSWSLSAKLQMRSNSPSRFSGDSPIHSSASTLEKIGEAADDKVSISCFGSLRNLSSSYQEPSDSHSRREHKAVGRAPLAVMEGVFKDE
SDTRRLNSSVVDTQSKHSAQGDRLPPLSGPFDNNNQIAYVDQSDSVDSSPVKEVKAPSHPGSLAKKPESTTKRSPSSKGTSEPEKSLRKGRPALASQESS
LSSTSPSSPLPVKVSLKPSRSRSKADSSSRGSGRHSSPAPAQPKKESSPKSQDSVSSPSPQKQKSASALTYTASSTSAKKASGPATRSPFPPGKSRTSDH
SLSREGSRQSLGSDRASATSTSKPNSPRVSQARAGEGRGAGKHVRSSSMASLRSPSTSIKSGLKRDSKSEDKGLSFFKSALRQKETRRSTDLGKTALLSK
KAGGSSVKSVCKNTGDDEAERGHQPPASQQPNANTTGKEQLVTKDPASAKHSLLSARKSKSSQLDSGVPSSPGGRQSAEKSSKKLSSSMQTSARPSQKPQ


SNP Information

Context             (SEQ ID NO:3414):
GAAGGAAACCCGGCGCTCGACGGATCTTGGCAAGACAGCCTTGCTCTCTAAAAAGGCTGGTGGGAGCTCTGTTAAGTCTGTCTGTAAGAACACCGGGGAC
R
ACGAGGCAGAGAGAGGCCACCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGGACCCTGCTTCTGCCAA
Celera SNP ID:            hCV25743979
SNP Position Transcript:  3316
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,1|G,39)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 1017, (N,AAC)   (D,GAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,37)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 1017, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3415):
CCTTTGACAGATTCCTGGAAAAAACTTCTAGATTCTAAACTGGGTGAAAGACTGGACATCATTTTCCTTGTCAGGTGTTGCATTTTTCCGTTAGAGGTGG
R
AAGCTCCACGATGCCCTGTGTCTGTGGGCTCATGTTCCCTCATCTTGTAGCTTGGAGAGGAAAGAAGTTGCCTTCTGCCAAAAGCCAATGGTGGTATGTT
Celera SNP ID:            hCV2611354
SNP Position Transcript:  4548
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3416):
GGTGGGTTCTCAAAGCAGTACCACTCTCATCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATGCTGTCATTGCGTTCAGCCCAGCACATCACAGC
Y
CCATCAGTGTGTAGCCACCGCTCTCGTTTTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTC
Celera SNP ID:            hCV336948
SNP Position Transcript:  5586
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3417):
GATTTAGACATTTAGCCTTGTGAAAGTTACCACAGTGCTCCATGTGATTCATTGACTGTGAGCCTGTTGTCCATTGCACTCAGCCCTGTACTCACTTCTT
Y
ACTCGCTGTCCTGGTTTTACTGTTCAGATTTTGGTGGGTTCTCAAAGCAGTACCACTCTCATCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATG
Celera SNP ID:            hCV336949
SNP Position Transcript:  5453
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,10)   total(C,10|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3418):
TTTTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTCTAACTCAAACCTCTCATTTTTGTTTA
R
TAGGTAGATCTCATTTGAAGTCTCCTATCTGAATCTCTGAAACAATTATAGTTTGATTAGACAAAGGTTTTTAATAACACTTCTTTTTTGCTGTAGTCAA
Celera SNP ID:            hCV2611355
SNP Position Transcript:  5713
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,6)      total(G,6|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3419):
GCACAAAATAATCACCAACAGTAATGTTGTATCTGTAATGTTTGTTTGCTTTTTAAAGTTTTATTCTTGATTTCTTGTAAACATCCATTGCACTGAGGCC
R
TATCATTCCTTAAGACAGCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGGCTCCAGTCATCTTAGACCATTTCCCAT
Celera SNP ID:            hCV2611356
SNP Position Transcript:  6527
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3420):
GCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGGCTCCAGTCATCTTAGACCATTTCCCATCCGTTTTGTATTTTCTC
K
TCCTGAAAGCAGCTGAACTGAAAGTAAGTAATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGT
Celera SNP ID:            hCV2611357
SNP Position Transcript:  6645
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,5)      total(G,5|T,2) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3421):
GAAAGTAAGTAATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTT
Y
TGCAATCTTGTTTTCATCATTCATTCTGCAAACGTTTATGGAGGGCCTTCTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAG
Celera SNP ID:            hCV2611358
SNP Position Transcript:  6765
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,5)      total(C,1|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3422):
ATGAGACGGATGTGGGATTTGAGGGGAACATTGTCATTCCCTTAAAATAACTATCATGAAAAAAATAGCAACAGTATGTAAAGGGACCAAGAGTGGCAGC
Y
TTTAGGGAAAATGGAGCAGAGAAGAGCTGTGAACAAAGCTCATTTATTTGAAATAAGCGTGCTTTATTTCACATAGAGGGGCATCAGACGTTACATTTCA
Celera SNP ID:            hCV11896361
SNP Position Transcript:  7248
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3423):
GGTGGCAGGCAGTCTGCAGAGAAATCCTCAAAAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATC
R
AAGTGTTTTATCTGTAAAGATGTTTATTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCG
Celera SNP ID:            hCV25771515
SNP Position Transcript:  3584
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,32)   total(A,5|G,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None



Context             (SEQ ID NO:3424):
AGGAATTCATTTAAACAACAACCTAAACCACTTGAAATTTGGCTTGGATTATCATAGACTGTCTTCTCCTACACAAACAGCAGCAAAGCAGGGGAAAATG
K
ATTCTCCCACATCAAGAGCAGGCAGCGACAAGATTGTCCTGTTGGTGTGTAACCGAGCCTGCACTGGGCAACAAGGGAAAAGGGCATTAAAATCTTGTGG
Celera SNP ID:            hCV11896362
SNP Position Transcript:  1051
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,6)      total(G,6|T,1) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 262, (D,GAT)   (Y,TAT)      262, (Y,TAT)   (D,GAT)      



Context             (SEQ ID NO:3425):
CTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAGTCGCCGTGAGCACAAGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGC
R
TGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTAGATACACAGAGCAAACATTCAGCACAAGGGGACCGCCTGCCCCCGCTCTCTGG
Celera SNP ID:            hCV25770466
SNP Position Transcript:  2353
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 696, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:3426):
TAACAACGAAACAAATCGAGGGAAAAACTCTTGCTTTCTGCACTTTCGCCCCATCTACCAGTCTTTGTAAAGGGCAATATTTTAACACTAATGTTTCTCA
R
GTATATACTCAGCTAGTCTAGGATGGTTGCACACCAGTAAATGGATTAAAGAGGAAGGTGCCATGTGGGTGACTGTGTCATTTCTCCTACTGCCACAGAT
Celera SNP ID:            hCV17427
SNP Position Transcript:  4141
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,17)      total(G,17|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3427):
TTAGCAATTGTACATATTTCTTTCTAGAGAACTCTAATGACTTTCTTTGGATATGAGGGTTTTGAAACCTGTGAACCAGAAAAGCTACCATTAGTGCGTA
R
AAGGAGGAAGGAGCTGACTCGTGTTTCTTCTGAGCAGGACTTGTCCTTACTGTGGATTGTGGGTGGCACCAGGAGCTCTAAAAACTGTGACTCTAACAAC
Celera SNP ID:            hCV17428
SNP Position Transcript:  3947
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,16)      total(G,16|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3428):
CCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGGACCCTGCTTCTGCCAAACATTCCCTGCTGTCCGCT
Y
GCAAATCCAAGTCTTCCCAACTAGACTCTGGAGTTCCCTCGTCTCCGGGTGGCAGGCAGTCTGCAGAGAAATCCTCAAAAAAGTTATCTTCTAGCATGCA
Celera SNP ID:            hCV25772357
SNP Position Transcript:  3436
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34|T,4)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 1057, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3429):
GTGTTTTATCTGTAAAGATGTTTATTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGAC
K
GTGTGTGTGTGTGTGAGTGTATGCGTGTGTGTGTCTAATTCAATTGCAAATTGTTCAAAGCGTCGCCTTATTCTGCCATTGAACCAAATAACAGCCATAG
Celera SNP ID:            hCV27077843
SNP Position Transcript:  3687
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,2|-,9)   total(G,2|-,9|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3430):
ATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTTTTGCAATCTTG
T
TTTCATCATTCATTCTGCAAACGTTTATGGAGGGCCTTCTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAGGAGCCCTGGGA
Celera SNP ID:            hCV27077844
SNP Position Transcript:  6776
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,4)   total(T,4|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3431):
AAGAGCAGGCAGCGACAAGATTGTCCTGTTGGTGTGTAACCGAGCCTGCACTGGGCAACAAGGGAAAAGGGCATTAAAATCTTGTGGACCAGGTGGCACT
R
CTCATGTGAAATTAGTAGTCGAGTGGGACAAGGAGACAAGAGATTTCTTATTTGTAAATACTGAGGATGAGTATATTCCTGATGCAGAAAGTGTTCGTCT
Celera SNP ID:            hCV25746480
SNP Position Transcript:  1165
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 300, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:3432):
CCCTTGGTGCACAGATCCATATATAACCTCCCTTTTCAGTATTGCTGTGTGTGAATTAACTACAACACATATGCATGCATAGCTGTGAATTCTGCACTAC
Y
TTTTTTTTCTTTTTTCCCCCCAAGAATATCTCTTGGGAAAAGTTTTTAGTACGTTACTTAACTTTATTTTGCTGCTAATTTGCGCATTAGCCGGTAACTT
Celera SNP ID:            hCV336950
SNP Position Transcript:  5189
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,4)   total(C,3|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3433):
CTCAAAAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATCGAAGTGTTTTATCTGTAAAGATGTTT
R
TTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGACTGTGTGTGTGTGTGTGAGTGTATG
Celera SNP ID:            hCV27511654
SNP Position Transcript:  3610
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:842, None   



Context             (SEQ ID NO:3434):
TATCCCAGTGTTTCCAACTGTACACCAAAGAGGAGCGGCTTGCCCCCGATGATGCCTGGCGTTGCCCACACTGTAAGCAGCTGCAGCAGGGAAGCATTAC
R
TTAAGCCTCTGGACTCTGCCTGATGTGCTTATTATACATCTAAAGAGATTTCGGCAGGAAGGAGACAGGCGCATGAAACTTCAGAACATGGTCAAATTCC
Celera SNP ID:            hCV25741604
SNP Position Transcript:  1404
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:842, 379, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3435):
AAGATTGGGGAGGCAGCAGATGACAAGGTCTCCATCTCTTGCTTTGGTAGCTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAGTC
K
CCGTGAGCACAAGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGCGTGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTAGAT
Celera SNP ID:            hCV25770061
SNP Position Transcript:  2303
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,7)   caucasian(G,26|T,14)   total(G,55|T,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:842, 679, (R,CGC)   (L,CTC)   



Gene Number:                 68
Celera Gene:                 hCG1810849 - 149000145732339
Celera Transcript:           hCT2262584 - 149000145732357
Public Transcript Accession: 
Celera Protein:              hCP1851013 - 197000069364147
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VTB5(5233255..5259882)
Chromosome:                  Chr16
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:146):
CACAAACAGCAGCAAAGCAGGGGAAAATGKATTCTCCCACATCAAGAGCAGGCAGCGACAAGATTGTCCTGTTGGTGTGTAACCGAGCCTGCACTGGGCA
ACAAGGGAAAAGATTTGGACTGCCTTTTGTGCTGCACTTAGAGAAGACAATAGCTTGGGACCTTCTGCAGAAGGAAATCTTGGAGAAGATGAAGTATTTC
TTGAGGCCCACGGTTTGCATTCAGGTGTGTCCATTCAGCTTGCGTGTGGTCAGTGTTGTTGGAATAACATATTTGCTGCCCCAGGAGGAGCAKCCCTTGT
GCCACCCAATAGTAGAAAGGGCATTAAAATCTTGTGGACCAGGTGGCACTRCTCATGTGAAATTAGTAGTCGAGTGGGACAAGGAGACAAGAGATTTCTT
ATTTGTAAATACTGAGGATGAGTATATTCCTGATGCAGAAAGTGTTCGTCTGCAAAGGGAGCGTCATCATCAGCCTCAAACCTGCACTTTATCCCAGTGT
TTCCAACTGTACACCAAAGAGGAGCGGCTTGCCCCCGATGATGCCTGGCGTTGCCCACACTGTAAGCAGCTGCAGCAGGGAAGCATTACRTTAAGCCTCT
GGACTCTGCCTGATGTGCTTATTATACATCTAAAGAGATTTCGGCAGGAAGGAGACAGGCGCATGAAACTTCAGAACATGGTCAAATTCCCCTTGACTGG
CCTGGACATGACACCTCACGTGGTTAAGAGGAGCCAGAGCAGCTGGAGTTTGCCATCGCATTGGTCCCCGTGGAGACGGCCCTATGGACTCGGGAGGGAC
CCTGAGGACTACATCTATGACCTGTATGCTGTGTGCAATCACCATGGCACCATGCAAGGGGGGCACTACACAGCGTACTGTAAGAACTCTGTGGACGGCC
TCTGGTACTGCTTCGATGACAGCGATGTGCAGCAGCTGTCAGAAGATGAGGTCTGCACGCAGACAGCATACATCCTCTTCTACCAGAGGCGGACAGCCAT
CCCGTCATGGTCAGCCAACAGCTCGGTGGCAGGCTCCACAAGTTCTTCCCTGTGTGAACACTGGGTGAGCCGGCTCCCGGGCAGCAAGCCAGCCAGCGTG
ACCTCTGCAGCTTCCTCCAGACGCACCTCCCTGGCGTCGCTCTCTGAGTCCGTGGAGATGACTGGAGAAAGGAGTGAAGATGATGGAGGCTTTTCAACTC
GACCATTTGTGAGAAGTGTCCAGCGTCAGAGTTTGTCATCCAGATCTTCTGTCACCAGCCCCTTGGCCGTCAATGAAAATTGCATGAGACCTTCATGGTC
CCTGTCTGCTAAGCTGCAGATGCGCTCCAATTCTCCATCCCGATTTTCAGGGGATTCGCCAATTCACAGCTCTGCTTCCACCTTGGAGAAGATTGGGGAG
GCAGCAGATGACAAGGTCTCCATCTCTTGCTTTGGTAGCTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAGTCKCCGTGAGCACA
AGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGCRTGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTAGATACACAGAGCAA
ACATTCAGCACAAGGGGACCGCCTGCCCCCGCTCTCTGGTCCATTTGATAACAATAATCAGATCGCTTATGTGGATCAGAGCGACTCCGTAGACAGCTCT
CCAGTCAAAGAGGTGAAAGCCCCCAGCCACCCAGGCTCACTCGCAAAGAAACCAGAGAGCACAACTAAGAGATCCCCCAGTTCCAAAGGCACTTCTGAGC
CAGAGAAAAGCTTGCGGAAGGGGAGACCAGCCTTGGCAAGCCAGGAGTCATCCCTTTCAAGTACATCCCCTTCTTCTCCTCTTCCTGTAAAAGTCTCTCT
AAAGCCCTCCCGCTCCCGCAGCAAAGCAGATTCTTCTTCCAGGGGCAGTGGACGGCATTCATCCCCTGCCCCTGCCCAACCCAAAAAGGAGTCATCCCCG
AAATCTCAGGACTCCGTGTCATCTCCTTCGCCACAGAAGCAGAAGTCAGCCTCGGCCCTCACCTACACTGCTTCCTCCACATCTGCCAAAAAGGCCTCGG
GCCCTGCCACAAGGAGCCCTTTCCCACCTGGGAAGAGCAGGACTTCAGACCACAGCTTGAGTAGAGAGGGCTCCAGACAAAGCTTGGGTTCTGACAGAGC
CAGCGCCACCTCCACCTCCAAACCCAATTCCCCTCGGGTGAGCCAGGCCCGAGCAGGGGAGGGCAGGGGGGCCGGGAAGCACGTGCGGAGCTCCTCCATG
GCCAGCCTGCGCTCCCCCAGCACAAGCATCAAGTCTGGTTTGAAGAGGGACAGCAAGTCTGAGGACAAGGGGCTGTCCTTCTTCAAATCAGCCTTGAGAC
AGAAGGAAACCCGGCGCTCGACGGATCTTGGCAAGACAGCCTTGCTCTCTAAAAAGGCTGGTGGGAGCTCTGTTAAGTCTGTCTGTAAGAACACCGGGGA
CRACGAGGCAGAGAGAGGCCACCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGGACCCTGCTTCTGCC
AAACATTCCCTGCTGTCCGCTYGCAAATCCAAGTCTTCCCAACTAGACTCTGGAGTTCCCTCGTCTCCGGGTGGCAGGCAGTCTGCAGAGAAATCCTCAA
AAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATCRAAGTGTTTTATCTGTAAAGATGTTTRTTTA
TTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGACKGTGTGTGTGTGTGTGAGTGTATGCGTG
TGTGTGTCTAATTCAATTGCAAATTGTTCAAAGCGTCGCCTTATTCTGCCATTGAACCAAATAACAGCCATAGGCAAAACATTGACACCAAGCTAACTGG
AATAATTGTAGACGATACCCAGGACGGTCCCTTTAGCAATTGTACATATTTCTTTCTAGAGAACTCTAATGACTTTCTTTGGATATGAGGGTTTTGAAAC
CTGTGAACCAGAAAAGCTACCATTAGTGCGTARAAGGAGGAAGGAGCTGACTCGTGTTTCTTCTGAGCAGGACTTGTCCTTACTGTGGATTGTGGGTGGC
ACCAGGAGCTCTAAAAACTGTGACTCTAACAACGAAACAAATCGAGGGAAAAACTCTTGCTTTCTGCACTTTCGCCCCATCTACCAGTCTTTGTAAAGGG
CAATATTTTAACACTAATGTTTCTCARGTATATACTCAGCTAGTCTAGGATGGTTGCACACCAGTAAATGGATTAAAGAGGAAGGTGCCATGTGGGTGAC
TGTGTCATTTCTCCTACTGCCACAGATAGACATTTTCGAGGTAGAAATGAAGCCTTTCACCACCTTCCTATCTGTGGTGACATGTGCACCAAAACCTGTC
TTGACTCTTGGGATAGGTCCTAGGAAGTGGCAGATTGGATAGCCAGAAAGCCAGTCACTCGTTTAATTTTTTTTCCTTCTGAAATTACTAGCTAAGGCTC
TTGGAATTTTGCACTGTAGTAGAGCAGTTAACACCTTTGACAGATTCCTGGAAAAAACTTCTAGATTCTAAACTGGGTGAAAGACTGGACATCATTTTCC
TTGTCAGGTGTTGCATTTTTCCGTTAGAGGTGGRAAGCTCCACGATGCCCTGTGTCTGTGGGCTCATGTTCCCTCATCTTGTAGCTTGGAGAGGAAAGAA
GTTGCCTTCTGCCAAAAGCCAATGGTGGTATGTTGAAGCGTTGTGTGATCAAGTGTTACATATGCACTTCAGATCCTGTCTGTCAGTCTCTGTTAGGGCT
GCCTTTCAGTAACTCATTTATTATTTCTTCTTTGTTCTTAAGATTTCATCTCATGCCCAGAACTCACAAGCAGGTTTTGGAGTGTGTTCCATCTGGCCGT
GTCAGTGCAAATTGCATTTCTTACAAAGGAGAACCTCACCAAAAAAAACCTCACAGATAAGCAAAGTATATAGTTTTGCAAGCTTTTTCAAGGTCTCCTG
GCAATACTTTCCTGCTCAATTTTTAGCTTTTCTTTTTTTTTTAAATGTCAAGAGAGTGAAGGTCTTGATTCTCTCTGAATAGCATTTGTCACTTTGCCAG
TAAATACAGCATGCTAAGTTTATGTGCTTTTAAATATTAGCGTTTTTCGTCAGACTCTTCAAGTTCTTCTTGAACCCTTGGTGCACAGATCCATATATAA
CCTCCCTTTTCAGTATTGCTGTGTGTGAATTAACTACAACACATATGCATGCATAGCTGTGAATTCTGCACTACYTTTTTTTTCTTTTTTCCCCCCAAGA
ATATCTCTTGGGAAAAGTTTTTAGTACGTTACTTAACTTTATTTTGCTGCTAATTTGCGCATTAGCCGGTAACTTGCAAGTCTGGAGACCACTTACTGTT
GAGGGTAGCTGGAATTTTAGACCCTTGGCAGTATTTAAGATTTAGACATTTAGCCTTGTGAAAGTTACCACAGTGCTCCATGTGATTCATTGACTGTGAG
CCTGTTGTCCATTGCACTCAGCCCTGTACTCACTTCTTYACTCGCTGTCCTGGTTTTACTGTTCAGATTTTGGTGGGTTCTCAAAGCAGTACCACTCTCA
TCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATGCTGTCATTGCGTTCAGCCCAGCACATCACAGCYCCATCAGTGTGTAGCCACCGCTCTCGTT
TTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTCTAACTCAAACCTCTCATTTTTGTTTART
AGGTAGATCTCATTTGAAGTCTCCTATCTGAATCTCTGAAACAATTATAGTTTGATTAGACAAAGGTTTTTAATAACACTTCTTTTTTGCTGTAGTCAAG
CATTAATAGAAACTAGTTTAATTTTCACAGTGGTAAATATTTTTATTCTTGAGTTATCTAGGAATGGATTTTCCACGATGTCTAGTGACTTAAAAAAAAA
AAGGAAAAACGTTTCTACAAATCCCTTTGGTTTTCCATGGGATCTGGAATAAAATGTCAGTGTCTATAAACTGTATGTCATGGAGTTTAGTCCTTGTTTC
AGGTTTAATAGAAAAAATCAGGAAGTATCATGGCATTGTCTAGACATCATGAAGCTATTTTATTTCCATAGTTGGTAAACAGTGAAAATTTCATTATCTC
CAACTACTAGGTACAACTTTAGGCCACAGGAAAGGTTATTTGGCCCGAAAGTTTGGAGGTGCTCCTTGAGGTGGGAAGTATCTTGTGGGAAAGTAGTTAC
TTGATTCAATTTAGTTCATTGGTAGGGTTGGGGACTTGGTGTTGGTTTCTTTCTTTCTTTTCTTTTTTTTTTTTTTTTTAATTTTCCCAGCAATATTTAG
CACAATGAGCGTGTATGTGCTTTGGGGTTAAAAATTATCTGCTAGGGATGATAGGCCTGGGTTTCTCGTTGACATCTAGATGGGCCTGATTAGAGCAGTC
ATCTCCTGGTAGGCACAAAATAATCACCAACAGTAATGTTGTATCTGTAATGTTTGTTTGCTTTTTAAAGTTTTATTCTTGATTTCTTGTAAACATCCAT
TGCACTGAGGCCRTATCATTCCTTAAGACAGCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGGCTCCAGTCATCTTA
GACCATTTCCCATCCGTTTTGTATTTTCTCKTCCTGAAAGCAGCTGAACTGAAAGTAAGTAATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATT
TGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTTYTGCAATCTTGTTTTCATCATTCATTCTGCAAACGTTTATGGAGGGCCTT
CTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAGGAGCCCTGGGAGCACAGCCCATCAAGCAAGGGATGTGATGGTGTCCTAA
ATGGAGTGACAGTTCTCCTGGGAAAAGAGATCACGTGGATTCCGGTCAAATCGGCTAAGGCTTGTGGTTCTCTTGAGCAAGTCTGTTCCTTCTGGAAACC
AAAAGTGCCCTTCATCTTTAGAGACATTTTACTCTTCCATCCACCTTTTCAGACTGAGCTGTCTCTACTATTTAGGGGTTGAAAATCCATTACACAGTCA
CTTTACGTTAACATTGGGTCATCTTATGTTTGTATGAGACGGATGTGGGATTTGAGGGGAACATTGTCATTCCCTTAAAATAACTATCATGAAAAAAATA
GCAACAGTATGTAAAGGGACCAAGAGTGGCAGCYTTTAGGGAAAATGGAGCAGAGAAGAGCTGTGAACAAAGCTCATTTATTTGAAATAAGCGTGCTTTA
TTTCACATAGAGGGGCATCAGACGTTACATTTCATTCGGACAAATTACTGAACAGCCGAAGTGATTGTTTCCAATGTAGGTTATTATAATTATTGGATAC
AAAGATTTAACTAGTGTTTCTGGGTTGGATTTTTGAAATAGTATGCAAGTCATAAGCACAGTTTCAATAAAACACGTATTCTGGAG

Protein Sequence    (SEQ ID NO:843):
MDSPTSRAGSDKIVLLVCNRACTGQQGKRFGLPFVLHLEKTIAWDLLQKEILEKMKYFLRPTVCIQVCPFSLRVVSVVGITYLLPQEEQPLCHPIVERAL
KSCGPGGTAHVKLVVEWDKETRDFLFVNTEDEYIPDAESVRLQRERHHQPQTCTLSQCFQLYTKEERLAPDDAWRCPHCKQLQQGSITLSLWTLPDVLII
HLKRFRQEGDRRMKLQNMVKFPLTGLDMTPHVVKRSQSSWSLPSHWSPWRRPYGLGRDPEDYIYDLYAVCNHHGTMQGGHYTAYCKNSVDGLWYCFDDSD
VQQLSEDEVCTQTAYILFYQRRTAIPSWSANSSVAGSTSSSLCEHWVSRLPGSKPASVTSAASSRRTSLASLSESVEMTGERSEDDGGFSTRPFVRSVQR
QSLSSRSSVTSPLAVNENCMRPSWSLSAKLQMRSNSPSRFSGDSPIHSSASTLEKIGEAADDKVSISCFGSLRNLSSSYQEPSDSHSRREHKAVGRAPLA
VMEGVFKDESDTRRLNSSVVDTQSKHSAQGDRLPPLSGPFDNNNQIAYVDQSDSVDSSPVKEVKAPSHPGSLAKKPESTTKRSPSSKGTSEPEKSLRKGR
PALASQESSLSSTSPSSPLPVKVSLKPSRSRSKADSSSRGSGRHSSPAPAQPKKESSPKSQDSVSSPSPQKQKSASALTYTASSTSAKKASGPATRSPFP
PGKSRTSDHSLSREGSRQSLGSDRASATSTSKPNSPRVSQARAGEGRGAGKHVRSSSMASLRSPSTSIKSGLKRDSKSEDKGLSFFKSALRQKETRRSTD
LGKTALLSKKAGGSSVKSVCKNTGDDEAERGHQPPASQQPNANTTGKEQLVTKDPASAKHSLLSARKSKSSQLDSGVPSSPGGRQSAEKSSKKLSSSMQT
SARPSQKPQ


SNP Information

Context             (SEQ ID NO:3436):
GAAGGAAACCCGGCGCTCGACGGATCTTGGCAAGACAGCCTTGCTCTCTAAAAAGGCTGGTGGGAGCTCTGTTAAGTCTGTCTGTAAGAACACCGGGGAC
R
ACGAGGCAGAGAGAGGCCACCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGGACCCTGCTTCTGCCAA
Celera SNP ID:            hCV25743979
SNP Position Transcript:  2502
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,1|G,39)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 826, (N,AAC)   (D,GAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,37)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 826, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3437):
CCTTTGACAGATTCCTGGAAAAAACTTCTAGATTCTAAACTGGGTGAAAGACTGGACATCATTTTCCTTGTCAGGTGTTGCATTTTTCCGTTAGAGGTGG
R
AAGCTCCACGATGCCCTGTGTCTGTGGGCTCATGTTCCCTCATCTTGTAGCTTGGAGAGGAAAGAAGTTGCCTTCTGCCAAAAGCCAATGGTGGTATGTT
Celera SNP ID:            hCV2611354
SNP Position Transcript:  3734
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3438):
GGTGGGTTCTCAAAGCAGTACCACTCTCATCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATGCTGTCATTGCGTTCAGCCCAGCACATCACAGC
Y
CCATCAGTGTGTAGCCACCGCTCTCGTTTTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTC
Celera SNP ID:            hCV336948
SNP Position Transcript:  4772
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3439):
GATTTAGACATTTAGCCTTGTGAAAGTTACCACAGTGCTCCATGTGATTCATTGACTGTGAGCCTGTTGTCCATTGCACTCAGCCCTGTACTCACTTCTT
Y
ACTCGCTGTCCTGGTTTTACTGTTCAGATTTTGGTGGGTTCTCAAAGCAGTACCACTCTCATCTGCTCAGTACATCTGCGGCAACTGGCTGCCTTCGATG
Celera SNP ID:            hCV336949
SNP Position Transcript:  4639
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,10)   total(C,10|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3440):
TTTTTCTGTATCGCTTTTATCTCCTGAAAAAGATGCACCAAATAAGAGATCATCTATATCAGGAATTGAATGTCTAACTCAAACCTCTCATTTTTGTTTA
R
TAGGTAGATCTCATTTGAAGTCTCCTATCTGAATCTCTGAAACAATTATAGTTTGATTAGACAAAGGTTTTTAATAACACTTCTTTTTTGCTGTAGTCAA
Celera SNP ID:            hCV2611355
SNP Position Transcript:  4899
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,6)      total(G,6|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3441):
GCACAAAATAATCACCAACAGTAATGTTGTATCTGTAATGTTTGTTTGCTTTTTAAAGTTTTATTCTTGATTTCTTGTAAACATCCATTGCACTGAGGCC
R
TATCATTCCTTAAGACAGCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGGCTCCAGTCATCTTAGACCATTTCCCAT
Celera SNP ID:            hCV2611356
SNP Position Transcript:  5713
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3442):
GCCCTACATCTTGCCTTGGTAATCCCTTAGATAATGTGGAAACTCAAACCGTTAGGCTCCAGTCATCTTAGACCATTTCCCATCCGTTTTGTATTTTCTC
K
TCCTGAAAGCAGCTGAACTGAAAGTAAGTAATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGT
Celera SNP ID:            hCV2611357
SNP Position Transcript:  5831
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,5)      total(G,5|T,2) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3443):
GAAAGTAAGTAATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTT
Y
TGCAATCTTGTTTTCATCATTCATTCTGCAAACGTTTATGGAGGGCCTTCTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAG
Celera SNP ID:            hCV2611358
SNP Position Transcript:  5951
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,5)      total(C,1|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3444):
ATGAGACGGATGTGGGATTTGAGGGGAACATTGTCATTCCCTTAAAATAACTATCATGAAAAAAATAGCAACAGTATGTAAAGGGACCAAGAGTGGCAGC
Y
TTTAGGGAAAATGGAGCAGAGAAGAGCTGTGAACAAAGCTCATTTATTTGAAATAAGCGTGCTTTATTTCACATAGAGGGGCATCAGACGTTACATTTCA
Celera SNP ID:            hCV11896361
SNP Position Transcript:  6434
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3445):
GGTGGCAGGCAGTCTGCAGAGAAATCCTCAAAAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATC
R
AAGTGTTTTATCTGTAAAGATGTTTATTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCG
Celera SNP ID:            hCV25771515
SNP Position Transcript:  2770
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,32)   total(A,5|G,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None



Context             (SEQ ID NO:3446):
CACAAACAGCAGCAAAGCAGGGGAAAATG
K
ATTCTCCCACATCAAGAGCAGGCAGCGACAAGATTGTCCTGTTGGTGTGTAACCGAGCCTGCACTGGGCAACAAGGGAAAAGATTTGGACTGCCTTTTGT
Celera SNP ID:            hCV11896362
SNP Position Transcript:  30
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,6)      total(G,6|T,1) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 2, (D,GAT)   (Y,TAT)      2, (Y,TAT)   (D,GAT)      



Context             (SEQ ID NO:3447):
CTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAGTCGCCGTGAGCACAAGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGC
R
TGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTAGATACACAGAGCAAACATTCAGCACAAGGGGACCGCCTGCCCCCGCTCTCTGG
Celera SNP ID:            hCV25770466
SNP Position Transcript:  1539
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 505, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:3448):
TAACAACGAAACAAATCGAGGGAAAAACTCTTGCTTTCTGCACTTTCGCCCCATCTACCAGTCTTTGTAAAGGGCAATATTTTAACACTAATGTTTCTCA
R
GTATATACTCAGCTAGTCTAGGATGGTTGCACACCAGTAAATGGATTAAAGAGGAAGGTGCCATGTGGGTGACTGTGTCATTTCTCCTACTGCCACAGAT
Celera SNP ID:            hCV17427
SNP Position Transcript:  3327
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,17)      total(G,17|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3449):
TTAGCAATTGTACATATTTCTTTCTAGAGAACTCTAATGACTTTCTTTGGATATGAGGGTTTTGAAACCTGTGAACCAGAAAAGCTACCATTAGTGCGTA
R
AAGGAGGAAGGAGCTGACTCGTGTTTCTTCTGAGCAGGACTTGTCCTTACTGTGGATTGTGGGTGGCACCAGGAGCTCTAAAAACTGTGACTCTAACAAC
Celera SNP ID:            hCV17428
SNP Position Transcript:  3133
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,16)      total(G,16|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3450):
CCAGCCTCCAGCTTCCCAGCAGCCAAATGCAAATACAACGGGAAAAGAGCAGCTTGTCACCAAGGACCCTGCTTCTGCCAAACATTCCCTGCTGTCCGCT
Y
GCAAATCCAAGTCTTCCCAACTAGACTCTGGAGTTCCCTCGTCTCCGGGTGGCAGGCAGTCTGCAGAGAAATCCTCAAAAAAGTTATCTTCTAGCATGCA
Celera SNP ID:            hCV25772357
SNP Position Transcript:  2622
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,34|T,4)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 866, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3451):
GTGTTTTATCTGTAAAGATGTTTATTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGAC
K
GTGTGTGTGTGTGTGAGTGTATGCGTGTGTGTGTCTAATTCAATTGCAAATTGTTCAAAGCGTCGCCTTATTCTGCCATTGAACCAAATAACAGCCATAG
Celera SNP ID:            hCV27077843
SNP Position Transcript:  2873
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,2|-,9)   total(G,2|-,9|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3452):
ATAATATGCTGGACCAGTGGGAACGGATGTGGGAGTATTTGTGGTGTGCTAAAATACTGTAATTATCTGTGAGGCTGCCTGACACGCTTTTGCAATCTTG
T
TTTCATCATTCATTCTGCAAACGTTTATGGAGGGCCTTCTTTGAGCACAGAGGCAAAACTGAAAGCTTCAGGGATTTGCTGTAGCTGAGGAGCCCTGGGA
Celera SNP ID:            hCV27077844
SNP Position Transcript:  5962
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,4)   total(T,4|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3453):
CAGTGTTGTTGGAATAACATATTTGCTGCCCCAGGAGGAGCAGCCCTTGTGCCACCCAATAGTAGAAAGGGCATTAAAATCTTGTGGACCAGGTGGCACT
R
CTCATGTGAAATTAGTAGTCGAGTGGGACAAGGAGACAAGAGATTTCTTATTTGTAAATACTGAGGATGAGTATATTCCTGATGCAGAAAGTGTTCGTCT
Celera SNP ID:            hCV25746480
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 109, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:3454):
AGTATTTCTTGAGGCCCACGGTTTGCATTCAGGTGTGTCCATTCAGCTTGCGTGTGGTCAGTGTTGTTGGAATAACATATTTGCTGCCCCAGGAGGAGCA
K
CCCTTGTGCCACCCAATAGTAGAAAGGGCATTAAAATCTTGTGGACCAGGTGGCACTGCTCATGTGAAATTAGTAGTCGAGTGGGACAAGGAGACAAGAG
Celera SNP ID:            hCV27077839
SNP Position Transcript:  293
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,7)   total(G,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 89, (Q,CAG)   (H,CAT)      



Context             (SEQ ID NO:3455):
CCCTTGGTGCACAGATCCATATATAACCTCCCTTTTCAGTATTGCTGTGTGTGAATTAACTACAACACATATGCATGCATAGCTGTGAATTCTGCACTAC
Y
TTTTTTTTCTTTTTTCCCCCCAAGAATATCTCTTGGGAAAAGTTTTTAGTACGTTACTTAACTTTATTTTGCTGCTAATTTGCGCATTAGCCGGTAACTT
Celera SNP ID:            hCV336950
SNP Position Transcript:  4375
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,4)   total(C,3|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3456):
CTCAAAAAAGTTATCTTCTAGCATGCAAACCTCTGCACGGCCTTCTCAAAAACCTCAGTGATATTTCTGCAATCGAAGTGTTTTATCTGTAAAGATGTTT
R
TTTATTTAGAACCCCTGCCCTCCCACCAAAGCCTCCTGTGCTTTTGTTTTGTACTTTTTTGAGTCACGTGCCCGACTGTGTGTGTGTGTGTGAGTGTATG
Celera SNP ID:            hCV27511654
SNP Position Transcript:  2796
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:843, None   



Context             (SEQ ID NO:3457):
TATCCCAGTGTTTCCAACTGTACACCAAAGAGGAGCGGCTTGCCCCCGATGATGCCTGGCGTTGCCCACACTGTAAGCAGCTGCAGCAGGGAAGCATTAC
R
TTAAGCCTCTGGACTCTGCCTGATGTGCTTATTATACATCTAAAGAGATTTCGGCAGGAAGGAGACAGGCGCATGAAACTTCAGAACATGGTCAAATTCC
Celera SNP ID:            hCV25741604
SNP Position Transcript:  590
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:843, 188, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3458):
AAGATTGGGGAGGCAGCAGATGACAAGGTCTCCATCTCTTGCTTTGGTAGCTTGCGGAACCTTTCTAGCAGTTACCAGGAACCAAGCGACAGTCATAGTC
K
CCGTGAGCACAAGGCTGTGGGCCGGGCCCCTCTGGCTGTCATGGAAGGCGTGTTCAAAGACGAATCGGACACCCGCAGATTGAACTCCAGTGTCGTAGAT
Celera SNP ID:            hCV25770061
SNP Position Transcript:  1489
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,7)   caucasian(G,26|T,14)   total(G,55|T,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:843, 488, (R,CGC)   (L,CTC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT2323279 - 84000314674533
Public Transcript Accession: NM_000721
Celera Protein:              hCP1799923 - 197000064932564
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(20041933..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:147):
GTGAATCTTATCCTTCTTRTCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTG
AGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCT
TCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCC
CGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGG
TGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGTGTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTA
TGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGAAGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTT
GATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAATCTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTC
TAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTGGTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCT
CTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTGGAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTC
CCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTGGAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCA
TGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTACACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCA
GGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGAAACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATG
CCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTGGGAGCCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCG
TGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCAGCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCC
CCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCCTTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAG
AAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGAWGGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGG
GCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTGACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGA
CCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCGTCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGC
CAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGACCATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGA
GAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCTCCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCA
TCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGCCAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGC
CGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAACACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACG
TGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACGGATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGA
GGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGG
AGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCC
TGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGTTCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTT
GATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGGACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCAACCAACAAA
GGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAGTTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACT
GCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAA
GTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAA
TGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACT
CTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTT
TGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATC
GACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGCAGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTG
AGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTGATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAA
TATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAGGTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTC
ATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACAGCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTG
CCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATTTTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAAT
TGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTATTTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGG
AGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTG
ACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGAT
GCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTACCTGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTC
TGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACACTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGAT
GTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATGCCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCG
GACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGGCAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCC
CAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTGACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGA
GTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAATGCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAA
TGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTC
CARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTA
TTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTC
CTTGCGGCTGTCAGCCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAG
CATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTG
AGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCR
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAG
GAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCC
CACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGC
TACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGG
CCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTC
TTCTCTCACATGGAGAAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGGAGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCA
GAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGC
TGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTG
TGGAGGGATCTAGCTGGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACTTTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGA
CTCTCCTCCCTCACCAGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACTGCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAG
GGCAGCACAGGCTAAGTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAGCGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGT
CTGGACAAGAAAAGCCATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAGAACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCT
GTCACCCACACAGTAGGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCCACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTAT
TTAACAACCGCTATGGCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCATGCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAA
CCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGC
TACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCG
AGGCCCAGCCTTCCCTGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGGCTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGC
TGATAGATTGAAATAAGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAGGAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTT
CAGGTCAGTTTGTCAGGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACTTGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCAT
CATACAGGATGACAAGACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGATGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGT
CCCACCCTGTCATTCCTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTTCTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCA
TTGGAGGGGACACATCACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTCCTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGG
CCCTCCTTCCCCCACCAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCCTGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACA
CACTCCTCCTCTTGGGCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCTCTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCA
GCCCTGAAAAGCCAAATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCCTTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCC
CCCAAACCAAAGTTGTCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCCACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAG
CACATGTGTGCTTGAGGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAGGTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGC
TTTTAAAGTTTCCTCTGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCTTTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTT
TCCCTAGGGGGAGGCCTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCATGGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTT
CAAGAGGAGAAATGCAGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAATAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCT
GAACTCCTTGAACTCATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGCACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATT
ACCAGTGAATTTCTTTTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATA
ATTTTCCGTTGAGTCAM

Protein Sequence    (SEQ ID NO:844):
MKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRI
SIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFG
ISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGI
RSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLR
ERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSAL
DNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHG
AKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTES
TSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASS
IALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALATNKGRDIKTIKSLRVLRVLRPLKTIKR
LPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTG
EGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRV
WHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFN
MSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLS
CLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLM
SPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAA
MMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLVVTDP
SSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESP
ERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSP
HPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC


SNP Information

Context             (SEQ ID NO:3459):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  4032
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1320, (N,AAC)   (N,AAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1320, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:3460):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTC
Celera SNP ID:            hCV1432822
SNP Position Transcript:  4822
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:844, 1584, (T,ACC)   (A,GCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:844, 1584, (T,ACC)   (A,GCC)      1584, (A,GCC)   (T,ACC)      



Context             (SEQ ID NO:3461):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  5988
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:844, None   



Context             (SEQ ID NO:3462):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  4779
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1569, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3463):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  6789
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:844, None   



Context             (SEQ ID NO:3464):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  8517
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:844, None   



Context             (SEQ ID NO:3465):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  2418
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 782, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3466):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  5397
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1775, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:3467):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTC
Celera SNP ID:            hCV25592149
SNP Position Transcript:  4803
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1577, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3468):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  5586
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1838, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:3469):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  1548
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:844, 492, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3470):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  5300
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:844, 1743, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:3471):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:844, 83, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3472):
GTGAATCTTATCCTTCTT
R
TCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTA
Celera SNP ID:            hCV25592186
SNP Position Transcript:  19
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,5|G,35)   total(A,6|G,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:844, None



Context             (SEQ ID NO:3473):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  2967
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 965, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:3474):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  3171
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 1033, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:3475):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  186
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:844, 38, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT1951756 - 84000314674388
Public Transcript Accession: NM_000721
Celera Protein:              hCP1767341 - 197000064932561
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(19744149..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:148):
GATGCGTGGACTGAGCCCAGACCGCAGGCTGCCCGAGCCCGCCCCCTGCCCGGCTGCGGGGAGCCCTGAGCCCAGGTCCGCGGGCCGCCGCCAACGCCAC
GTCCTGGCCCTGCCGGAAGAAGAGGCATGGCGGCCCCAGCAGTGCGCTCTGCTCGAGGCCGACGCCTCGGACGAGGTGGGCATGCTGCCGGCTTCCCCGC
GCGCCGCCTCTGGCTTCGACAACTTCTTCCAGGTGCAGGAGGGCGAGGGCCAGGGCTGGGAGGGCGCCATGGCACTGGAGGCGGGCTCCAGCCCTTTCCT
GCCGGTGAGCCCCGAGGTCATGAAGCGGCGGCGCGGGGGCCTCATCGAGCAGCGCGACATCATCAAGGCCCACGAGGCGCACAAGATGCAGAGCACCCCG
CAGGCCCGGCGCAAGGAATGGGAGATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGACCAGAGCAGGAACCGGC
AAGGAACCCCCGTGCCGGCCTCGGGGCAGGCGGCCGCCTACAAGCAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCG
GCAGAACTGTTTCACCGTCAACAGATCCCTGTTCATCTTCGGAGAAGATAACATTGTCAGGAAATATGCCAAGAAGCTCATCGATTGGCCCCATTTGAGT
ACATGATCCTGGCCACCATCATTGCCAACTGCATCGTCCTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATGTCCCGAAGACTGGAGAA
GACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGC
TGGAATGTCATGGACTTCATCGTSGTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGC
GTGTCCTGCGGCCTTTGAAGCTCGTGTCAGGGATACCTAGCCTGCAGATTGTGTTGAAGTCCATCATGAAGGCCATGGTACCTCTTCTGCAGATTGGCCT
TCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGCRTGCTTCATGAACAATTCAGGTATTCTA
GAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCGGCCCCAATGATGGGATCACCCAGTTTG
ATAACATCCTTTTTGCTGTGCTGACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTGTACAATACCAATGATGCCTTAGGAGCCACCTG
GAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTCTTTGTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGGAATTTGCCAAAGAGAGAGAG
AGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAG
TCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGA
CTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCGG
CACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGTG
TGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTATGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGAA
GATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTTGATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAATC
TTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTCTAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTGG
TGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCTCTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTGG
AGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTCCCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTGG
AATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCATGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTACA
CGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCAGGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGAA
ACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATGCCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTGG
GAGCCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCA
GCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCCCCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCCT
TTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGAW
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
ACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGACCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCGT
CAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGCCAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGAC
CATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCT
CCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCATCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGCC
AGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGCCGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAAC
ACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACGG
ATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGAGGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAGC
CATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCATC
CTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGT
TCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTTGATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGGA
CTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCGTAAAACCAACAAAGGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAGT
TCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTG
TACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGT
GCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCT
GCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAAC
CGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGC
AAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATCGACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGCA
GAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTGAGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTG
ATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAATATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAGG
TCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTCATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACAG
CAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTGCCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATT
TTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAATTGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTAT
TTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGGAGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAGG
TGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGGC
ACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTACC
TGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTCTGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACAC
TGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGATGTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATG
CCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCGGACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGGC
AGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCCCAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTGA
CCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGAGTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAAT
GCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCC
TGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTCCARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAGA
ACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATGGCATCTACCTTCCTTCGGACACCCAGGAGCATGCGGGATCT
GGGAGGGCATCTTCTATGCCACGTCTGACTGTGGATCCCCAGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTT
CAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAGC
CCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCT
GATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTGAGGGCAGGTCACAGA
CGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCRGCAGCTCCCACCCGT
CCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAGGAGGGCTCCCCGCTG
ACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCCCACAGCGCTACATCT
CCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGCTACTAGCCTGGGCCG
TTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATG
ATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTCTTCTCTCACATGGAG
AAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGGAGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCAGAGAAGAGGAAGTAA
AGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGCTGGGGAAAGAAACCA
GGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTGTGGAGGGATCTAGCT
GGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACTTTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGACTCTCCTCCCTCACC
AGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACTGCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAGGGCAGCACAGGCTAA
GTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAGCGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGTCTGGACAAGAAAAGC
CATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAGAACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCTGTCACCCACACAGTA
GGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCCACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTATTTAACAACCGCTATG
GCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCATGCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAACCCTGAGGGTGTGGG
TAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGCTACGGCCACACCAGC
ACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCGAGGCCCAGCCTTCCC
TGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGGCTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGCTGATAGATTGAAATA
AGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAGGAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTTCAGGTCAGTTTGTCA
GGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACTTGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCATCATACAGGATGACAA
GACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGATGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGTCCCACCCTGTCATTC
CTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTTCTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCATTGGAGGGGACACAT
CACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTCCTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGGCCCTCCTTCCCCCAC
CAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCCTGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACACACTCCTCCTCTTGG
GCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCTCTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCAGCCCTGAAAAGCCAA
ATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCCTTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCCCCCAAACCAAAGTTG
TCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCCACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAGCACATGTGTGCTTGA
GGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAGGTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGCTTTTAAAGTTTCCTC
TGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCTTTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTTTCCCTAGGGGGAGGC
CTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCATGGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTTCAAGAGGAGAAATGC
AGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAATAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCTGAACTCCTTGAACTC
ATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGCACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATTACCAGTGAATTTCTT
TTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTC
AM

Protein Sequence    (SEQ ID NO:845):
MILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVR
VLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFD
NILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEV
MLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACV
AIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLV
VSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYT
LLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSS
QEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCD
PTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGS
GLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTD
GEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVF
TGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALA


SNP Information

Context             (SEQ ID NO:3476):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  5488
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3477):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATGGCATCTACCTTCCTTCGGA
Celera SNP ID:            hCV1432822
SNP Position Transcript:  6278
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3478):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  7573
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3479):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  8374
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3480):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  10102
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3481):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  6235
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None



Context             (SEQ ID NO:3482):
TCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGGAATGTCATGGACTTCATCGT
S
GTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTCG
Celera SNP ID:            hCV26752145
SNP Position Transcript:  924
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,11)      total(G,11|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:845, 74, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:3483):
CCATGGTACCTCTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGC
R
TGCTTCATGAACAATTCAGGTATTCTAGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCG
Celera SNP ID:            hCV1792341
SNP Position Transcript:  1173
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,39|G,1)   total(A,76|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:845, 157, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:845, 157, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:3484):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  3870
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:845, 1056, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3485):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATG
Celera SNP ID:            hCV25592149
SNP Position Transcript:  6259
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None



Context             (SEQ ID NO:3486):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  6982
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None



Context             (SEQ ID NO:3487):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  3000
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:845, 766, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3488):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  7171
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None



Context             (SEQ ID NO:3489):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  6885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3490):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  1771
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:845, 357, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3491):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  4423
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None   



Context             (SEQ ID NO:3492):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  4627
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:845, None



Context             (SEQ ID NO:3493):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  1638
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:845, 312, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT2323283 - 84000314674576
Public Transcript Accession: NM_000721
Celera Protein:              hCP1799924 - 197000064932565
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(19744149..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:149):
GATGCGTGGACTGAGCCCAGACCGCAGGCTGCCCGAGCCCGCCCCCTGCCCGGCTGCGGGGAGCCCTGAGCCCAGGTCCGCGGGCCGCCGCCAACGCCAC
GTCCTGGCCCTGCCGGAAGAAGAGGCATGGCGGCCCCAGCAGTGCGCTCTGCTCGAGGCCGACGCCTCGGACGAGGTGGGCATGCTGCCGGCTTCCCCGC
GCGCCGCCTCTGGCTTCGACAACTTCTTCCAGGTGCAGGAGGGCGAGGGCCAGGGCTGGGAGGGCGCCATGGCACTGGAGGCGGGCTCCAGCCCTTTCCT
GCCGGTGAGCCCCGAGGTCATGAAGCGGCGGCGCGGGGGCCTCATCGAGCAGCGCGACATCATCAAGGCCCACGAGGCGCACAAGATGCAGAGCACCCCG
CAGGCCCGGCGCAAGGAATGGGAGATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGACCAGAGCAGGAACCGGC
AAGGAACCCCCGTGCCGGCCTCGGGGCAGGCGGCCGCCTACAAGCAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCG
GCAGAACTGTTTCACCGTCAACAGATCCCTGTTCATCTTCGGAGAAGATAACATTGTCAGGAAATATGCCAAGAAGCTCATCGATTGGCCGCCATTTGAG
TACATGATCCTGGCCACCATCATTGCCAACTGCATCGTCCTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATGTCCCGAAGACTGGAGA
AGACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGG
CTGGAATGTCATGGACTTCATCGTSGTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTG
CGTGTCCTGCGGCCTTTGAAGCTCGTGTCAGGGATACCTAGCCTGCAGATTGTGTTGAAGTCCATCATGAAGGCCATGGTACCTCTTCTGCAGATTGGCC
TTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGCRTGCTTCATGAACAATTCAGGTATTCT
AGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCGGCCCCAATGATGGGATCACCCAGTTT
GATAACATCCTTTTTGCTGTGCTGACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTGTACAATACCAATGATGCCTTAGGAGCCACCT
GGAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTCTTTGTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGGAATTTGCCAAAGAGAGAGA
GAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAA
GTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAG
ACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCG
GCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGT
GTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTATGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGA
AGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTTGATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAAT
CTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTCTAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTG
GTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCTCTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTG
GAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTCCCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTG
GAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCATGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTAC
ACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCAGGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGA
AACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATGCCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTG
GGAGCCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCC
AGCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCCCCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCC
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
WGGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGT
GACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGACCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCG
TCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGCCAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGA
CCATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGC
TCCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCATCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGC
CAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGCCGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAA
CACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACG
GATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGAGGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAG
CCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCAT
CCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTG
TTCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTTGATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGG
ACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCGTAAAACCAACAAAGGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAG
TTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGT
GTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAG
TGCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCC
TGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAA
CCGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAG
CAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATCGACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGC
AGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTGAGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCT
GATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAATATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAG
GTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTCATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACA
GCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTGCCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCAT
TTTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAATTGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTA
TTTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGGAGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAG
GTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGG
CACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTAC
CTGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTCTGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACA
CTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGATGTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACAT
GCCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCGGACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGG
CAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCCCAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTG
ACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGAGTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAA
TGCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGC
CTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTCCARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAG
AACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATGGCATCTACCTTCCTTCGGACACCCAGGAGCATGCGGGATC
TGGGAGGGCATCTTCTATGCCACGTCTGACTGTGGATCCCCAGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGT
TCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAG
CCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCC
TGATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTGAGGGCAGGTCACAG
ACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCRGCAGCTCCCACCCG
TCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAGGAGGGCTCCCCGCT
GACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCCCACAGCGCTACATC
TCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGCTACTAGCCTGGGCC
GTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCAT
GATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTCTTCTCTCACATGGA
GAAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGGAGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCAGAGAAGAGGAAGTA
AAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGCTGGGGAAAGAAACC
AGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTGTGGAGGGATCTAGC
TGGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACTTTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGACTCTCCTCCCTCAC
CAGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACTGCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAGGGCAGCACAGGCTA
AGTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAGCGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGTCTGGACAAGAAAAG
CCATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAGAACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCTGTCACCCACACAGT
AGGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCCACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTATTTAACAACCGCTAT
GGCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCATGCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAACCCTGAGGGTGTGG
GTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGCTACGGCCACACCAG
CACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCGAGGCCCAGCCTTCC
CTGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGGCTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGCTGATAGATTGAAAT
AAGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAGGAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTTCAGGTCAGTTTGTC
AGGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACTTGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCATCATACAGGATGACA
AGACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGATGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGTCCCACCCTGTCATT
CCTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTTCTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCATTGGAGGGGACACA
TCACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTCCTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGGCCCTCCTTCCCCCA
CCAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCCTGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACACACTCCTCCTCTTG
GGCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCTCTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCAGCCCTGAAAAGCCA
AATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCCTTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCCCCCAAACCAAAGTT
GTCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCCACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAGCACATGTGTGCTTG
AGGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAGGTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGCTTTTAAAGTTTCCT
CTGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCTTTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTTTCCCTAGGGGGAGG
CCTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCATGGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTTCAAGAGGAGAAATG
CAGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAATAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCTGAACTCCTTGAACT
CATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGCACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATTACCAGTGAATTTCT
TTTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGT
CAM

Protein Sequence    (SEQ ID NO:846):
MRGLSPDRRLPEPAPCPAAGSPEPRSAGRRQRHVLALPEEEAWRPQQCALLEADASDEVGMLPASPRAASGFDNFFQVQEGEGQGWEGAMALEAGSSPFL
PVSPEVMKRRRGGLIEQRDIIKAHEAHKMQSTPQARRKEWEMARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVR
QNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNG
WNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGIL
EGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERE
RVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFR
HKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAI
FRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDW
NEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMW
EPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGD
GGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKD
HELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITAN
TDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCI
LLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALA


SNP Information

Context             (SEQ ID NO:3494):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  5489
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3495):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATGGCATCTACCTTCCTTCGGA
Celera SNP ID:            hCV1432822
SNP Position Transcript:  6279
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3496):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  7574
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3497):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  8375
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3498):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  10103
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3499):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  6236
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None



Context             (SEQ ID NO:3500):
TCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGGAATGTCATGGACTTCATCGT
S
GTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTCG
Celera SNP ID:            hCV26752145
SNP Position Transcript:  925
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,11)      total(G,11|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:846, 308, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:3501):
CCATGGTACCTCTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGC
R
TGCTTCATGAACAATTCAGGTATTCTAGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCG
Celera SNP ID:            hCV1792341
SNP Position Transcript:  1174
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,39|G,1)   total(A,76|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:846, 391, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:846, 391, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:3502):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  3871
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:846, 1290, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3503):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATG
Celera SNP ID:            hCV25592149
SNP Position Transcript:  6260
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None



Context             (SEQ ID NO:3504):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  6983
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None



Context             (SEQ ID NO:3505):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  3001
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:846, 1000, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3506):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  7172
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None



Context             (SEQ ID NO:3507):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  6886
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3508):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:846, 591, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3509):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None   



Context             (SEQ ID NO:3510):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  4628
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:846, None



Context             (SEQ ID NO:3511):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  1639
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:846, 546, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT1958677 - 84000314674440
Public Transcript Accession: NM_000721
Celera Protein:              hCP1767318 - 197000064932562
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(19744149..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:150):
GATGCGTGGACTGAGCCCAGACCGCAGGCTGCCCGAGCCCGCCCCCTGCCCGGCTGCGGGGAGCCCTGAGCCCAGGTCCGCGGGCCGCCGCCAACGCCAC
GTCCTGGCCCTGCCGGAAGAAGAGGCATGGCGGCCCCAGCAGTGCGCTCTGCTCGAGGCCGACGCCTCGGACGAGGTGGGCATGCTGCCGGCTTCCCCGC
GCGCCGCCTCTGGCTTCGACAACTTCTTCCAGGTGCAGGAGGGCGAGGGCCAGGGCTGGGAGGGCGCCATGGCACTGGAGGCGGGCTCCAGCCCTTTCCT
GCCGGTGAGCCCCGAGGTCATGAAGCGGCGGCGCGGGGGCCTCATCGAGCAGCGCGACATCATCAAGGCCCACGAGGCGCACAAGATGCAGAGCACCCCG
CAGGCCCGGCGCAAGGAATGGGAGATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGACCAGAGCAGGAACCGGC
AAGGAACCCCCGTGCCGGCCTCGGGGCAGGCGGCCGCCTACAAGCAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCG
GCAGAACTGTTTCACCGTCAACAGATCCCTGTTCATCTTCGGAGAAGATAACATTGTCAGGAAATATGCCAAGAAGCTCATCGATTGGCCGCCATTTGAG
TACATGATCCTGGCCACCATCATTGCCAACTGCATCGTCCTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATGTCCCGAAGACTGGAGA
AGACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGG
CTGGAATGTCATGGACTTCATCGTSGTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTG
CGTGTCCTGCGGCCTTTGAAGCTCGTGTCAGGGATACCTAGCCTGCAGATTGTGTTGAAGTCCATCATGAAGGCCATGGTACCTCTTCTGCAGATTGGCC
TTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGCRTGCTTCATGAACAATTCAGGTATTCT
AGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCGGCCCCAATGATGGGATCACCCAGTTT
GATAACATCCTTTTTGCTGTGCTGACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTGTACAATACCAATGATGCCTTAGGAGCCACCT
GGAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTCTTTGTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGGAATTTGCCAAAGAGAGAGA
GAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAA
GTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAG
ACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCG
GCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGT
GTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTATGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGA
AGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTTGATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAAT
CTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTCTAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTG
GTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCTCTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTG
GAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTCCCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTG
GAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCATGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTAC
ACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCAGGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGA
AACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATGCCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTG
GGAGCCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCC
AGCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCCCCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCC
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
WGGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGT
GACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGACCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCG
TCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGCCAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGA
CCATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGC
TCCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCATCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGC
CAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGCCGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAA
CACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACG
GATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGAGGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAG
CCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCAT
CCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTG
TTCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTTGATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGG
ACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCGTAAAACCAACAAAGGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAG
TTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGT
GTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAG
TGCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCC
TGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAA
CCGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAG
CAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATCGACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGC
AGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTGAGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCT
GATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAATATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAG
GTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTCATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACA
GCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTGCCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCAT
TTTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAATTGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTA
TTTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGGAGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAG
GTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGG
CACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTAC
CTGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTCTGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACA
CTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGATGTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACAT
GCCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCGGACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGG
CAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCCCAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTG
ACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGAGTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAA
TGCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGC
CTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTCCARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAG
AACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTC
CATGGAGCGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAGCCCACCGCCTGAACTCTGATTCAGGCCAC
AAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAAGAGC
GAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTGAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCT
AAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCRGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCC
TACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATG
CTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGA
CTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCC
CTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTGCTAA
GTGACACGGAAGAAGATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTCTTCTCTCACATGGAGAAAACCAAGACAGAATTGGGAAGCCAGT
GCGGCCCGGGGGGGAGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCA
CCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAG
AAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTGTGGAGGGATCTAGCTGGCCTATGTCTACACTCAGTGCCCTGAG
AAGCCTGGAAGACTTTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGACTCTCCTCCCTCACCAGCTCTTACGCCTCAGCCAGCACCACTG
CCACCAGGGCAACTGCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAGGGCAGCACAGGCTAAGTCAGGAACATCGGATGCCAGGGAGGGA
GGAGAAAGCCGAAGCGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGTCTGGACAAGAAAAGCCATAGCCCGGCAGCCCCTACCATGAGGG
AGACAGAGAAACAGAACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCTGTCACCCACACAGTAGGTGCTGAGAGTTAGGACAGGTCAGGAA
GTCCCCCAGGGTCCACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTATTTAACAACCGCTATGGCATCAATGTAAGTGGAGTTTGGTCCTA
GTGCCGGAGCCCATGCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATT
AAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACT
CTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCGAGGCCCAGCCTTCCCTGCCACTCCTCTGAGAGGGCAGAACACA
CATATCCAAGTAGGCTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGCTGATAGATTGAAATAAGCTTCTGTGAAAGTCTGGATTTACTGA
GGACCTCCCCTGAGGAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTTCAGGTCAGTTTGTCAGGATGCTTTAAGGTGATTAGTAAATATA
CCTCAGCTTAGACTTGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCATCATACAGGATGACAAGACTGGGGCCCTGTTCACCTTGAACATG
CCCCTGGGCCAAGATGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGTCCCACCCTGTCATTCCTAATAGCCCAAACGCAGAAGCACTGAG
CAAGAGAGCCCTTTCTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCATTGGAGGGGACACATCACTGGCTTTATCTGGTGGAAATGTACC
TTTCCCTTAAGTTCCTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGGCCCTCCTTCCCCCACCAGGAACAGATGGAACCTGCCACCCAGG
ATCCTGATCTGCCCTGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACACACTCCTCCTCTTGGGCAGGAGCAATCCAGAGTTGTTATTTTT
CTTAGAAGGAGCCTCTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCAGCCCTGAAAAGCCAAATTCAACCACATGGCTGGAGAATCATTT
GTCATGGCCCCGCCTTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCCCCCAAACCAAAGTTGTCCCAACAGAGGAGGCCAGTGAGGCAGA
GACAGAGCTCTCCCACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAGCACATGTGTGCTTGAGGGTGGCTGGGAATGTGATATACAGCAC
CCTGATCCTAACAGGTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGCTTTTAAAGTTTCCTCTGCTCAGCATCATTTCATGCCAAAGTGC
TGCTATGGGCTGCTTTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTTTCCCTAGGGGGAGGCCTACAACAGGACGACCATTCTGAGCCAG
TGAGTCTATTGCATGGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTTCAAGAGGAGAAATGCAGGCTGGCAGAGCAATTTCCAGAAATGG
AATTTGCCTGCAAATAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCTGAACTCCTTGAACTCATACACACAGGTATTTGAGTCCTGAATA
AAGTGTTGGAAAGCACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATTACCAGTGAATTTCTTTTATTCACCTTCCCTTGACCAAGAAATT
GGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCAM

Protein Sequence    (SEQ ID NO:847):
MRGLSPDRRLPEPAPCPAAGSPEPRSAGRRQRHVLALPEEEAWRPQQCALLEADASDEVGMLPASPRAASGFDNFFQVQEGEGQGWEGAMALEAGSSPFL
PVSPEVMKRRRGGLIEQRDIIKAHEAHKMQSTPQARRKEWEMARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVR
QNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNG
WNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGIL
EGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERE
RVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFR
HKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAI
FRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDW
NEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMW
EPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGD
GGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKD
HELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITAN
TDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCI
LLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALA


SNP Information

Context             (SEQ ID NO:3512):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  5489
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3513):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTC
Celera SNP ID:            hCV1432822
SNP Position Transcript:  6279
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3514):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  7445
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3515):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  8246
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3516):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  9974
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3517):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  6236
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None



Context             (SEQ ID NO:3518):
TCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGGAATGTCATGGACTTCATCGT
S
GTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTCG
Celera SNP ID:            hCV26752145
SNP Position Transcript:  925
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,11)      total(G,11|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:847, 308, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:3519):
CCATGGTACCTCTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGC
R
TGCTTCATGAACAATTCAGGTATTCTAGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCG
Celera SNP ID:            hCV1792341
SNP Position Transcript:  1174
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,39|G,1)   total(A,76|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:847, 391, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:847, 391, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:3520):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  3871
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:847, 1290, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3521):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTC
Celera SNP ID:            hCV25592149
SNP Position Transcript:  6260
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None



Context             (SEQ ID NO:3522):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  6854
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None



Context             (SEQ ID NO:3523):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  3001
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:847, 1000, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3524):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  7043
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None



Context             (SEQ ID NO:3525):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  6757
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3526):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:847, 591, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3527):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None   



Context             (SEQ ID NO:3528):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  4628
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:847, None



Context             (SEQ ID NO:3529):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  1639
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:847, 546, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT2323280 - 84000314674628
Public Transcript Accession: NM_000721
Celera Protein:              hCP1799925 - 197000064932566
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(20041933..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:151):
GTGAATCTTATCCTTCTTRTCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTG
AGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCT
TCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCC
CGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGG
TGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGTGTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTA
TGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGAAGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTT
GATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAATCTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTC
TAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTGGTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCT
CTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTGGAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTC
CCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTGGAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCA
TGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTACACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCA
GGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGAAACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATG
CCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTGGGAGCCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCG
TGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCAGCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCC
CCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCCTTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAG
AAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGAWGGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGG
GCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTGACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGA
CCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCGTCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGC
CAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGACCATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGA
GAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCTCCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCA
TCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGCCAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGC
CGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAACACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACG
TGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACGGATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGA
GGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGG
AGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCC
TGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGTTCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTT
GATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGGACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCAACCAACAAA
GGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAGTTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACT
GCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAA
GTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAA
TGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACT
CTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTT
TGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATC
GACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGCAGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTG
AGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTGATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAA
TATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAGGTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTC
ATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACAGCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTG
CCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATTTTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAAT
TGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTATTTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGG
AGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTG
ACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGAT
GCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTACCTGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTC
TGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACACTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGAT
GTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATGCCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCG
GACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGGCAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCC
CAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTGACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGA
GTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAATGCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAA
TGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTC
CARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACC
ATGGCATCTACCTTCCTTCGGACACCCAGGAGCATGCGGGATCTGGGAGGGCATCTTCTATGCCACGTCTGACTGTGGATCCCCAGGTGGTGACAGACCC
TAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGTGAAAATACCTAC
AAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAGCCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCA
GGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCC
AGAGCGCCGTCAATCCAGGTCACCCAGTGAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCT
GACACCAGCACCCCAAGAAGAAGTCGTCRGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCA
GCATCTCTCCACCTGCTGATGGAAGYGAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCC
GCACCCCCAGCAGAGCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAG
GAGACGCTCACTTTYGAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACG
GGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTA
GAGGCTGCTCCCCCCTCCGATGCATGCTCTTCTCTCACATGGAGAAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGGAGGAAGAGGGAAAA
GGAAGATGGAAGGACACCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGA
TGGGCACTGCCATAGTYCTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCC
CTTGCCCCTTCCCACTTTTCTAAAAGCTGTGGAGGGATCTAGCTGGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACTTTCTGGCTCTTAAC
TGGGGAGTAGTGGAGACCATAGGAGAGGACTCTCCTCCCTCACCAGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACTGCAGCAGCATCTCA
TGCATAACCCTGTGGCTTGCTTCCCCCAGGGCAGCACAGGCTAAGTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAGCGAAAGGGGTCAGG
GTGCTGAGGCAACAGCAGCAAGGGCTGGTCTGGACAAGAAAAGCCATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAGAACTGGTGGTGCTG
GGGGGTATAGCCCCCCATCCTTGAGGCCTGTCACCCACACAGTAGGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCCACAAAGGTGCCTGA
GGCTCTGGTAAGGGTGAAGATAAAAGTATTTAACAACCGCTATGGCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCATGCTATTCCAGGCAT
TGGCTCTTTAGATGCCAGTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTG
TGGAAGCAATTAAATATRCGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGC
TGTGCCAAGCCCGGTAAGGCCAAGTGCCGAGGCCCAGCCTTCCCTGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGGCTACCCACCACTGG
GTAGGGATTTCTGTAAAGATGGGAAAGGCTGATAGATTGAAATAAGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAGGAGGGACCGTTGGG
ACCGCAGATTCTGCAGCTGGTGTGGGGTTCAGGTCAGTTTGTCAGGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACTTGGGCTGCTCCTTC
TAGCAAAGCAGGCTCCAGTGGGGCCTCATCATACAGGATGACAAGACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGATGGGGCTTCACCCC
TCCCCAGAGTAAGAGCTGGGGCTGACAGTCCCACCCTGTCATTCCTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTTCTTGCCAAGCCAGT
GCTCTTTTGGTATATGGCATACAGCTCCATTGGAGGGGACACATCACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTCCTCCTTAGTGCCAT
CACAGCAGGTGAATGGGTGCCCTACGGGGCCCTCCTTCCCCCACCAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCCTGCACTGAGCACTC
AGTGGATAAACACTCCTCCAGCCCAGACACACTCCTCCTCTTGGGCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCTCTTTTCCCTCTATT
TTTTAAATTGAAATATAATAGCTGCATCAGCCCTGAAAAGCCAAATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCCTTCTCTTCTGATAC
TAATGGAGCTTCATGACCCACGGTCAGCCCCCAAACCAAAGTTGTCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCCACTCTCAGACCCTC
TTTTGTCTTCATTTTCCTCTCCCACTTAGCACATGTGTGCTTGAGGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAGGTGTGATTGTTACG
TAAGACGCTGATACTGGGCCTTGTATTGCTTTTAAAGTTTCCTCTGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCTTTGTGTGCACAAAA
TTGCTTTTTCCACCTCGGAAATGCAGCTTTCCCTAGGGGGAGGCCTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCATGGTGTTTTGAGAAA
GGGAATTTTAGTGACACCTTATGCCATTTCAAGAGGAGAAATGCAGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAATAGTATAAACAACA
CTAAATTTACTGTGCCAGGAAATCTTCCTGAACTCCTTGAACTCATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGCACTGCAGATGCGGT
CACCTGACTGACCACCTGGGTTTTCTATTACCAGTGAATTTCTTTTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTA
CTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCAM

Protein Sequence    (SEQ ID NO:848):
MKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRI
SIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFG
ISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGI
RSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLR
ERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSAL
DNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHG
AKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTES
TSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASS
IALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALATNKGRDIKTIKSLRVLRVLRPLKTIKR
LPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTG
EGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRV
WHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFN
MSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLS
CLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLM
SPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAA
MMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVS
ELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGH
KSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLS
YSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPP
LRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC


SNP Information

Context             (SEQ ID NO:3530):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  4032
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1320, (N,AAC)   (N,AAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1320, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:3531):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATGGCATCTACCTTCCTTCGGA
Celera SNP ID:            hCV1432822
SNP Position Transcript:  4822
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:848, 1584, (T,ACC)   (A,GCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:848, 1584, (T,ACC)   (A,GCC)      1584, (A,GCC)   (T,ACC)      



Context             (SEQ ID NO:3532):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  6117
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:848, None   



Context             (SEQ ID NO:3533):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  4779
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1569, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3534):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  6918
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:848, None   



Context             (SEQ ID NO:3535):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  8646
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:848, None   



Context             (SEQ ID NO:3536):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  2418
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 782, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3537):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  5526
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1818, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:3538):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAACCATG
Celera SNP ID:            hCV25592149
SNP Position Transcript:  4803
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1577, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3539):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  5715
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1881, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:3540):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  1548
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:848, 492, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3541):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  5429
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:848, 1786, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:3542):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:848, 83, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3543):
GTGAATCTTATCCTTCTT
R
TCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTA
Celera SNP ID:            hCV25592186
SNP Position Transcript:  19
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,5|G,35)   total(A,6|G,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:848, None



Context             (SEQ ID NO:3544):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  2967
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 965, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:3545):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  3171
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 1033, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:3546):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  186
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:848, 38, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT1958678 - 84000314674338
Public Transcript Accession: NM_000721
Celera Protein:              hCP1767313 - 197000064932560
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(19744149..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:152):
GATGCGTGGACTGAGCCCAGACCGCAGGCTGCCCGAGCCCGCCCCCTGCCCGGCTGCGGGGAGCCCTGAGCCCAGGTCCGCGGGCCGCCGCCAACGCCAC
GTCCTGGCCCTGCCGGAAGAAGAGGCATGGCGGCCCCAGCAGTGCGCTCTGCTCGAGGCCGACGCCTCGGACGAGGTGGGCATGCTGCCGGCTTCCCCGC
GCGCCGCCTCTGGCTTCGACAACTTCTTCCAGGTGCAGGAGGGCGAGGGCCAGGGCTGGGAGGGCGCCATGGCACTGGAGGCGGGCTCCAGCCCTTTCCT
GCCGGTGAGCCCCGAGGTCATGAAGCGGCGGCGCGGGGGCCTCATCGAGCAGCGCGACATCATCAAGGCCCACGAGGCGCACAAGATGCAGAGCACCCCG
CAGGCCCGGCGCAAGGAATGGGAGATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGACCAGAGCAGGAACCGGC
AAGGAACCCCCGTGCCGGCCTCGGGGCAGGCGGCCGCCTACAAGCAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCG
GCAGAACTGTTTCACCGTCAACAGATCCCTGTTCATCTTCGGAGAAGATAACATTGTCAGGAAATATGCCAAGAAGCTCATCGATTGGCCGCCATTTGAG
TACATGATCCTGGCCACCATCATTGCCAACTGCATCGTCCTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATGTCCCGAAGACTGGAGA
AGACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGG
CTGGAATGTCATGGACTTCATCGTSGTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTG
CGTGTCCTGCGGCCTTTGAAGCTCGTGTCAGGGATACCTAGCCTGCAGATTGTGTTGAAGTCCATCATGAAGGCCATGGTACCTCTTCTGCAGATTGGCC
TTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGCRTGCTTCATGAACAATTCAGGTATTCT
AGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCGGCCCCAATGATGGGATCACCCAGTTT
GATAACATCCTTTTTGCTGTGCTGACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTGTACAATACCAATGATGCCTTAGGAGCCACCT
GGAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTCTTTGTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGGAATTTGCCAAAGAGAGAGA
GAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAA
GTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAG
ACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCG
GCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGT
GTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTATGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGA
AGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTTGATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAAT
CTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTCTAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTG
GTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCTCTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTG
GAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTCCCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTG
GAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCATGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTAC
ACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCAGGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGA
AACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATGCCTTCGATCGAGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTG
GGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCAGCCAGGAGGCCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCCCCTC
AACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCCTTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGT
TCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGAWGGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCA
GCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTGACCCGACTCAGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGACCGG
GCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCGTCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGCCAGG
AACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGACCATGAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGC
CCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCTCCGGGCTGGCAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCATCCT
GAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGCCAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGCCGGG
TCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAACACGGACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGA
CCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACGGATGGGGAAGCCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGAGGTG
GAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGG
CCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGAC
CAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGTTCACGGGCGTGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTTGATC
CTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGGACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCGTAAAACCAACAAA
GGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAGTTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACT
GCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAA
GTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAA
TGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACT
CTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTT
TGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATC
GACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGCAGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTG
AGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTGATGATGAAGTATTATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAA
TATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAGGTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTC
ATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACAGCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTG
CCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATTTTGCTGTGGACCTTTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAAT
TGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTATTTGGAAACATAAAATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGG
AGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTG
ACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGAT
GCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTACCTGACTCGGGACTCCTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTC
TGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACACTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGAT
GTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATGCCAGTAGCTGAGGACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCG
GACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGGCAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCC
CAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTGACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGA
GTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAATGCCCCCATGTTCCAGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAA
TGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTC
CARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTA
TTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTC
CTTGCGGCTGTCAGCCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAG
CATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTG
AGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCR
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAG
GAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCC
CACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGC
TACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGG
CCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTC
TTCTCTCACATGGAGAAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGGAGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCA
GAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGC
TGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTG
TGGAGGGATCTAGCTGGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACTTTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGA
CTCTCCTCCCTCACCAGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACTGCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAG
GGCAGCACAGGCTAAGTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAGCGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGT
CTGGACAAGAAAAGCCATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAGAACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCT
GTCACCCACACAGTAGGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCCACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTAT
TTAACAACCGCTATGGCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCATGCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAA
CCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGC
TACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCG
AGGCCCAGCCTTCCCTGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGGCTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGC
TGATAGATTGAAATAAGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAGGAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTT
CAGGTCAGTTTGTCAGGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACTTGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCAT
CATACAGGATGACAAGACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGATGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGT
CCCACCCTGTCATTCCTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTTCTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCA
TTGGAGGGGACACATCACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTCCTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGG
CCCTCCTTCCCCCACCAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCCTGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACA
CACTCCTCCTCTTGGGCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCTCTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCA
GCCCTGAAAAGCCAAATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCCTTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCC
CCCAAACCAAAGTTGTCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCCACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAG
CACATGTGTGCTTGAGGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAGGTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGC
TTTTAAAGTTTCCTCTGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCTTTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTT
TCCCTAGGGGGAGGCCTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCATGGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTT
CAAGAGGAGAAATGCAGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAATAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCT
GAACTCCTTGAACTCATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGCACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATT
ACCAGTGAATTTCTTTTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATA
ATTTTCCGTTGAGTCAM

Protein Sequence    (SEQ ID NO:849):
MRGLSPDRRLPEPAPCPAAGSPEPRSAGRRQRHVLALPEEEAWRPQQCALLEADASDEVGMLPASPRAASGFDNFFQVQEGEGQGWEGAMALEAGSSPFL
PVSPEVMKRRRGGLIEQRDIIKAHEAHKMQSTPQARRKEWEMARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVR
QNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNG
WNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGIL
EGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERE
RVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFR
HKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAI
FRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDW
NEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERERRRRHHMSVW
EQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQ
REPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERA
QDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVD
PLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLT
NSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALA


SNP Information

Context             (SEQ ID NO:3547):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  5432
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3548):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTC
Celera SNP ID:            hCV1432822
SNP Position Transcript:  6222
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3549):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  7388
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3550):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  8189
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3551):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  9917
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3552):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  6179
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None



Context             (SEQ ID NO:3553):
TCTTTTGCTTTGAAGCTGGGATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGGAATGTCATGGACTTCATCGT
S
GTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTCG
Celera SNP ID:            hCV26752145
SNP Position Transcript:  925
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,11)      total(G,11|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:849, 308, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:3554):
CCATGGTACCTCTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGCAAGTTACATCGAGC
R
TGCTTCATGAACAATTCAGGTATTCTAGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAGGACTGGATCG
Celera SNP ID:            hCV1792341
SNP Position Transcript:  1174
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,39|G,1)   total(A,76|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:849, 391, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:849, 391, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:3555):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  3814
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:849, 1271, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3556):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTC
Celera SNP ID:            hCV25592149
SNP Position Transcript:  6203
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None



Context             (SEQ ID NO:3557):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  6797
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None



Context             (SEQ ID NO:3558):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  2944
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:849, 981, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3559):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  6986
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None



Context             (SEQ ID NO:3560):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  6700
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3561):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:849, 591, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3562):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  4367
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None   



Context             (SEQ ID NO:3563):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  4571
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:849, None



Context             (SEQ ID NO:3564):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  1639
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:849, 546, (S,TCA)   (S,TCC)   



Gene Number:                 69
Celera Gene:                 hCG1811168 - 84000314674337
Celera Transcript:           hCT2323284 - 84000314674491
Public Transcript Accession: NM_000721
Celera Protein:              hCP1799922 - 197000064932563
Public Protein Accession:    NP_000712
Gene Symbol:                 CACNA1E
Protein Name:                calcium channel, voltage-dependent, alpha 1E subunit;CACNL1A6;Cav2.3
Celera Genomic Axis:         GA_x5YUV32W2NG(20041933..20132587)
Chromosome:                  Chr1
OMIM number:                 601013
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT;CACNA1E


Transcript Sequence (SEQ ID NO:153):
GTGAATCTTATCCTTCTTRTCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTG
AGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATCMGCCTTAGAAGTGCT
TCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCC
CGAGCCAGTATCAAAAGTKCAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGG
TGTTTTACTGGATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGTGTGGCCATTGTCCATCACAACCAGCCCCAGTGGCTCACCCACCTCCTCTACTA
TGCAGAATTTCTGTTTCTGGGACTCTTCCTCTTGGAGATGTCCCTGAAGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTCAACTGCTTT
GATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAATCTTCAGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTC
TAAGAATATTTAAAATAACCAAGTATTGGGCTTCCCTACGGAATTTGGTGGTCTCCTTGATGAGCTCAATGAAGTCTATCATCAGTTTGCTTTTCCTCCT
CTTCCTCTTCATCGTTGTCTTTGCTCTCCTAGGAATGCAGTTATTTGGAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTTGATACCTTC
CCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTGGAATGAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCA
TGTGGTCTGCCATCTACTTCATTGTGCTCACCTTGTTTGGCAACTACACGCTACTGAATGTGTTCTTGGCTATCGCTGTGGATAATCTCGCCAACGCCCA
GGAACTGACCAAGGATGAACAGGAGGAAGAAGAGGCCTTCAACCAGAAACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCACCCAACATG
CCTTCGATCGAGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTGGGAGCAGCGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCAGCCAGGAGG
CCCTCAACAGAGAGGAGGCGCCGACCATGAACCCGCTCAACCCCCTCAACCCGCTCAGCTCCCTCAACCCGCTCAATGCCCACCCCAGCCTTTATCGGCG
ACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGAWGGAGGGGAC
CGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTGACCCGACTC
AGCAGGAGGCAGGGGGAGGAGAGGCTGTGGTGACCTTTGAGGACCGGGCCAGGCACAGGCAGAGCCAACGGCGCAGCCGGCATCGCCGCGTCAGGACAGA
AGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGGTCTGCCAGCCAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGACCATGAGCTC
AGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGCCCAGGATTTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCTCCGGGCTGG
CAGGAGGCCTTGATGAGGCTGACACCCCCCTAGTCCTGCCCCATCCTGAGCTGGAAGTGGGGAAGCACGTGGTGCTGACGGAGCAGGAGCCAGAAGGCAG
CAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTAGACATGGGCCGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAACACGGACAAG
GCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGACCCCTTGGTGGACTCAACCGTGGTGCACATTAGCAACAAGACGGATGGGGAAG
CCAGTCCCTTGAAGGAGGCAGAGATCAGAGAGGATGAGGAGGAGGTGGAGAAGAAGAAGCAGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCC
CCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACATYGTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTG
ATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGTTCACGGGCG
TGTTCACCTTTGAGATGGTTATAAAGATGATAGACCAAGGCTTGATCCTGCAGGATGGGTCCTACTTCCGAGACTTGTGGAACATCCTGGACTTTGTGGT
GGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCAACCAACAAAGGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTCCGAGTTCTAAGGCCACTG
AAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCA
TGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTA
TGTAGATCAYGAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTC
ACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGT
CTATCTTTTATGTRGTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGAT
GATGGAGGAGTGCAGCCTGGAGAAGAATGAGAGGGCGTGCATCGACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATGCCGCAGAACAGACACACC
TTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTTGAGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTGATGATGAAGTATT
ATTCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAATATCGCCTTCACCATGGTGTTTTCCCTGGAATGTGTCCTGAAGGTCATCGCTTTTGG
CTTTTTGAACTATTTCCGAGACACCTGGAATATCTTTGACTTCATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACAGACAGCAAGCTGGTGAAC
ACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCTGCCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATTTTGCTGTGGACCT
TTGTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAATTGCCATGCTTTTCTTCATTTATGCCATCATTGGGATGCAGGTATTTGGAAACATAAA
ATTAGACGAGGAGAGTCACATCAACCGGCACAACAACTTCCGGAGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCCACAGGTGAGGCCTGGCAG
GAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAAYGAACGCTGCGGCACCGATCTGGCCT
ACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACAACTTTGAGTACCTGACTCGGGACTC
CTCCATCCTGGGGCCTCACCACTTGGACGAGTTTGTCCGCGTCTGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCATTACACTGAGATGTATGAA
ATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGATGTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATGCCAGTAGCTGAGG
ACATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCGGACAGCTCTGGACATTAAAATTGCCAAAGGTGGTGCAGACAGGCAGCAGCTAGACTC
AGAGCTACAAAAGGAGACCCTAGCCATCTGGCCTCACCTATCCCAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCCTCTGACCTGACTGTGGGC
AAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAGAGTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAATGCCCCCATGTTCC
AGCGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAG
TGGATACCCTTCGATGAGTCCMCTCTCTCCCCAGGATATATTCCARTTGGCTTGTATGGACCCCRCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTG
GTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCA
GTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAGCCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCA
CCGCTCAGGGGGCAGGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAAGAGCGAGGGACCCAGGCT
GACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGTGAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCA
TCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCRGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGAT
TCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGYGAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAG
TCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAG
ACTGTGGTGAGGAGGAGACGCTCACTTTYGAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTG
GCAGATGCCCAACGGGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTGCTAAGTGACACGGAAGAA
GATGACAAATGCTAGAGGCTGCTCCCCCCTCCGATGCATGCTCTTCTCTCACATGGAGAAAACCAAGACAGAATTGGGAAGCCAGTGCGGCCCGGGGGGG
AGGAAGAGGGAAAAGGAAGATGGAAGGACACCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTAT
TCCCCTTTGCAAGATGGGCACTGCCATAGTYCTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGA
TGGCTTTGCTTCCCCTTGCCCCTTCCCACTTTTCTAAAAGCTGTGGAGGGATCTAGCTGGCCTATGTCTACACTCAGTGCCCTGAGAAGCCTGGAAGACT
TTCTGGCTCTTAACTGGGGAGTAGTGGAGACCATAGGAGAGGACTCTCCTCCCTCACCAGCTCTTACGCCTCAGCCAGCACCACTGCCACCAGGGCAACT
GCAGCAGCATCTCATGCATAACCCTGTGGCTTGCTTCCCCCAGGGCAGCACAGGCTAAGTCAGGAACATCGGATGCCAGGGAGGGAGGAGAAAGCCGAAG
CGAAAGGGGTCAGGGTGCTGAGGCAACAGCAGCAAGGGCTGGTCTGGACAAGAAAAGCCATAGCCCGGCAGCCCCTACCATGAGGGAGACAGAGAAACAG
AACTGGTGGTGCTGGGGGGTATAGCCCCCCATCCTTGAGGCCTGTCACCCACACAGTAGGTGCTGAGAGTTAGGACAGGTCAGGAAGTCCCCCAGGGTCC
ACAAAGGTGCCTGAGGCTCTGGTAAGGGTGAAGATAAAAGTATTTAACAACCGCTATGGCATCAATGTAAGTGGAGTTTGGTCCTAGTGCCGGAGCCCAT
GCTATTCCAGGCATTGGCTCTTTAGATGCCAGTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTG
TTTTCCAACCAGTGTGGAAGCAATTAAATATRCGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGC
AGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAGGCCAAGTGCCGAGGCCCAGCCTTCCCTGCCACTCCTCTGAGAGGGCAGAACACACATATCCAAGTAGG
CTACCCACCACTGGGTAGGGATTTCTGTAAAGATGGGAAAGGCTGATAGATTGAAATAAGCTTCTGTGAAAGTCTGGATTTACTGAGGACCTCCCCTGAG
GAGGGACCGTTGGGACCGCAGATTCTGCAGCTGGTGTGGGGTTCAGGTCAGTTTGTCAGGATGCTTTAAGGTGATTAGTAAATATACCTCAGCTTAGACT
TGGGCTGCTCCTTCTAGCAAAGCAGGCTCCAGTGGGGCCTCATCATACAGGATGACAAGACTGGGGCCCTGTTCACCTTGAACATGCCCCTGGGCCAAGA
TGGGGCTTCACCCCTCCCCAGAGTAAGAGCTGGGGCTGACAGTCCCACCCTGTCATTCCTAATAGCCCAAACGCAGAAGCACTGAGCAAGAGAGCCCTTT
CTTGCCAAGCCAGTGCTCTTTTGGTATATGGCATACAGCTCCATTGGAGGGGACACATCACTGGCTTTATCTGGTGGAAATGTACCTTTCCCTTAAGTTC
CTCCTTAGTGCCATCACAGCAGGTGAATGGGTGCCCTACGGGGCCCTCCTTCCCCCACCAGGAACAGATGGAACCTGCCACCCAGGATCCTGATCTGCCC
TGCACTGAGCACTCAGTGGATAAACACTCCTCCAGCCCAGACACACTCCTCCTCTTGGGCAGGAGCAATCCAGAGTTGTTATTTTTCTTAGAAGGAGCCT
CTTTTCCCTCTATTTTTTAAATTGAAATATAATAGCTGCATCAGCCCTGAAAAGCCAAATTCAACCACATGGCTGGAGAATCATTTGTCATGGCCCCGCC
TTCTCTTCTGATACTAATGGAGCTTCATGACCCACGGTCAGCCCCCAAACCAAAGTTGTCCCAACAGAGGAGGCCAGTGAGGCAGAGACAGAGCTCTCCC
ACTCTCAGACCCTCTTTTGTCTTCATTTTCCTCTCCCACTTAGCACATGTGTGCTTGAGGGTGGCTGGGAATGTGATATACAGCACCCTGATCCTAACAG
GTGTGATTGTTACGTAAGACGCTGATACTGGGCCTTGTATTGCTTTTAAAGTTTCCTCTGCTCAGCATCATTTCATGCCAAAGTGCTGCTATGGGCTGCT
TTGTGTGCACAAAATTGCTTTTTCCACCTCGGAAATGCAGCTTTCCCTAGGGGGAGGCCTACAACAGGACGACCATTCTGAGCCAGTGAGTCTATTGCAT
GGTGTTTTGAGAAAGGGAATTTTAGTGACACCTTATGCCATTTCAAGAGGAGAAATGCAGGCTGGCAGAGCAATTTCCAGAAATGGAATTTGCCTGCAAA
TAGTATAAACAACACTAAATTTACTGTGCCAGGAAATCTTCCTGAACTCCTTGAACTCATACACACAGGTATTTGAGTCCTGAATAAAGTGTTGGAAAGC
ACTGCAGATGCGGTCACCTGACTGACCACCTGGGTTTTCTATTACCAGTGAATTTCTTTTATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCC
TCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCAM

Protein Sequence    (SEQ ID NO:850):
MKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRI
SIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFG
ISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGI
RSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERERRRRHHMSVWEQRTSQLR
KHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLAR
PCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNS
LMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVV
HISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVL
RYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALATNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVF
NILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRG
PSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIAL
NTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQG
YTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNE
NERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRL
VLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQL
EEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLVVTDPSSMRRSFSTIRDKRSNSSW
LEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQ
GTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYL
ALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC


SNP Information

Context             (SEQ ID NO:3565):
GGAGTGCCACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCTGACACCACCGCACCATCAGGGCAGAACGAGAA
Y
GAACGCTGCGGCACCGATCTGGCCTACGTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCCGTCATCATGGACA
Celera SNP ID:            hCV677930
SNP Position Transcript:  3975
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,28|T,10)   total(C,50|T,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1301, (N,AAC)   (N,AAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,10)      total(C,10|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   SC_12_C(T,3|C,21)   SC_12_AA(T,6|C,18)   total(C,39|T,9)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1301, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:3566):
CCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCC
R
CCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTCGGGATAAGCGTTCAAATTC
Celera SNP ID:            hCV1432822
SNP Position Transcript:  4765
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,23)   caucasian(A,17|G,17)   total(A,20|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:850, 1565, (T,ACC)   (A,GCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   JBIG-allele(A,338|G,395)   total(G,395|A,338)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:850, 1565, (T,ACC)   (A,GCC)      1565, (A,GCC)   (T,ACC)      



Context             (SEQ ID NO:3567):
CCATGCATTATCAGAGAAGAGGAAGTAAAGGACAATCAGAACACCAGTCAAACCCACCAAATTGCTTTATTCCCCTTTGCAAGATGGGCACTGCCATAGT
Y
CTGCCTCTTTGCTGGGGAAAGAAACCAGGAACGTGGAGGGTTATTACTGCGGGAGAAGGGACACGAGGATGGCTTTGCTTCCCCTTGCCCCTTCCCACTT
Celera SNP ID:            hCV15874578
SNP Position Transcript:  5931
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(C,389|T,850)   total(C,389|T,850)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:850, None   



Context             (SEQ ID NO:3568):
TGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCC
M
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCA
Celera SNP ID:            hCV25592160
SNP Position Transcript:  4722
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,34|C,2)   total(A,58|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1550, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3569):
GTCATGGGGGAACCCTGAGGGTGTGGGTAGAGTAGCAGGGGCCACCTAAGAGATTAAAAACAGAGTCTGTTTTCCAACCAGTGTGGAAGCAATTAAATAT
R
CGTAACAGTGCTACGGCCACACCAGCACCTCCTGGCTGAAGGTCAGCCCACACTCTGGTCCATGAGGCAGCAAGGCCAGTGCTGTGCCAAGCCCGGTAAG
Celera SNP ID:            hCV677943
SNP Position Transcript:  6732
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:850, None   



Context             (SEQ ID NO:3570):
TATTCACCTTCCCTTGACCAAGAAATTGGGTTTCTTTTCCCTCAGCCTGCACTTACTCTTCTATTAAGACCAGAAAATAAAATAATTTTCCGTTGAGTCA
M

Celera SNP ID:            hCV27466950
SNP Position Transcript:  8460
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:850, None   



Context             (SEQ ID NO:3571):
AGAAGAAGGAGAAGCGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAACCCGATCCGGAGGGCCTGCCACTACAT
Y
GTGAACCTGCGCTACTTTGAGATGTGCATCCTCCTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCGGAGCGCA
Celera SNP ID:            hCV25592091
SNP Position Transcript:  2361
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,34|T,4)   total(C,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 763, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3572):
GTCGGCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAG
Y
GAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCT
Celera SNP ID:            hCV25592173
SNP Position Transcript:  5340
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,39|T,1)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1756, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:3573):
CCAAAGCCCTGCCTTACCTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCACTCTCTCCCCAGGATATATTCCA
R
TTGGCTTGTATGGACCCCGCCGATGACGGACAGTTCCAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACTATTC
Celera SNP ID:            hCV25592149
SNP Position Transcript:  4746
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,38)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1558, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:3574):
GCCAACATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTT
Y
GAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTATCGGCGGC
Celera SNP ID:            hCV25592174
SNP Position Transcript:  5529
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,36|T,2)   total(C,62|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1819, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:3575):
TTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTGGCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGA
W
GGAGGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAGCCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTG
Celera SNP ID:            hCV25592085
SNP Position Transcript:  1491
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,22)   caucasian(A,5|T,33)   total(A,11|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:850, 473, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:3576):
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTC
R
GCAGCTCCCACCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCTCCACCTGCTGATGGAAGCGAG
Celera SNP ID:            hCV16246083
SNP Position Transcript:  5243
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:850, 1724, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:3577):
GAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACACCTCTGGCCCGAGCCAGTATCAAAAGT
K
CAAAGGTAGACGGGGTCTCTTATTTCCGGCACAAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGGATTGTGCT
Celera SNP ID:            hCV25592079
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:850, 83, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:3578):
GTGAATCTTATCCTTCTT
R
TCCACAGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTA
Celera SNP ID:            hCV25592186
SNP Position Transcript:  19
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,5|G,35)   total(A,6|G,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:850, None



Context             (SEQ ID NO:3579):
TTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGACAGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCA
Y
GAGAAAAACAAGATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGGGCCCTGCTGACCCTCTTCACCGTCTCCA
Celera SNP ID:            hCV27954942
SNP Position Transcript:  2910
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 946, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:3580):
GGGAAGGATGGCCTCAAGTTCTGCAGCACTCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCTATCTTTTATGT
R
GTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCTCTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCA
Celera SNP ID:            hCV25592101
SNP Position Transcript:  3114
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 1014, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:3581):
GCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAAAATGCTGGAACATC
M
GCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACAGAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGG
Celera SNP ID:            hCV25592210
SNP Position Transcript:  186
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,2|C,38)   total(A,2|C,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:850, 38, (S,TCA)   (S,TCC)   



Gene Number:                 70
Celera Gene:                 hCG1811572 - 84000314047455
Celera Transcript:           hCT2303431 - 84000314047477
Public Transcript Accession: NM_014914
Celera Protein:              hCP1808654 - 197000064951295
Public Protein Accession:    NP_055729
Gene Symbol:                 CENTG2
Protein Name:                centaurin, gamma 2;AGAP1;GGAP1;KIAA1099
Celera Genomic Axis:         GA_x5YUV32VWPT(41030436..41661686)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:154):
AGGCGGCGGGCGGCGCTCGGAGCGGGCTCCGCGGCTTGCAAGGCGCCTGCGACTCGGTCCCAGGTCGGCGGGCGGCGCACGGCGGGCTCGCGCGGGGGCC
CCGGCGCGCCGGGCGGCGCAGTACGCAGCGCGCGGACCCACGCCACGGCCAGGAGCCCAGAGCAGCGCGGCCACACTGCCCAGGGGTCGGCCCTCGGCCC
CGGCGCTCGGAGCGCGGCGGCTGCCTGGGCTTTAATGGCTGCTCCGCGGAGCAGCGCCTAGGGCTGGAAGGCGGCTGCGGCTCAGGAAGTCACCCGAGCA
AGCCTCCTTCGGGGCCGGCCGCACCCGCCGCGGCGCGCTCCATGGGGGCGCGCTCCCCCCGGGCGGCCCGCTGACCCGGGACGCCGGGGCCCGCTCGCTC
GCCGGCCGCGCGTCCCGGCCATGAACTGAGCCCGCGGGCCAGCCCCGCGCCTGCTCCGCCCGCGCCTTTCTTCTCGCGCCTCCTCCGCCCGCCGCCGGCG
GGCCCGGCTCCCCGGGGGCTGCGGCGCCCCGGGCTCGGCGGCCCGCGGGCCCCGGGGCGCGGGGCGGCGGCGGCGGGGGGCGCGCGGCTCCGGGCGCGGC
GCCTGCACCATGAACTACCAGCAGCAGCTGGCCAACTCGGCTGCCATCCGGGCCGAGATCCAGCGCTTCGAGTCGGTCCACCCCAACATCTACTCCATCT
ACGAGCTGCTGGAGCGCGTGGAGGAGCCGGTGCTGCAGAACCAGATCCGGGAGCACGTCATCGCCATCGAAGATGCCTTCGTGAACAGCCAGGAATGGAC
GCTGAGTCGATCTGTCCCGGAGCTCAAAGTGGGAATTGTGGGTAACTTGGCCAGCGGCAAGTCTGCCCTGGTGCACCGGTACCTGACGGGCACATATGTC
CAGGAGGAGTCTCCGGAAGGTGGCAGGTTCAAGAAAGAGATTGTCGTTGATGGACAGAGCTATCTGCTGCTGATCAGAGATGAAGGGGGCCCCCCGGAGG
CGCAGTTTGCCATGTGGGTGGACGCTGTTATATTTGTCTTCAGCTTGGAGGATGAAATAAGTTTCCAGACCGTTTACCACTACTACAGTCGAATGGCCAA
CTATCGGAACACGAGCGAGATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCTGCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAAG
CTCTCCAACGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATACGGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCAGAAGATTGTTG
CCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAGTCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTCCGCGCAGGTGTCTGCCGTGCA
CATCAGCCAGACAAGTAATGGAGGTGGGAGTTTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAGCACCAGCCAGAAGGAACTTCGGATCGATGTT
CCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCACYTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGA
AAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGA
GTGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGTGCTGACCTATCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAGGAGATTGAC
CTTCTGAGAACCACTGTGAAAGTCCCAGGGAAGAGGCCACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAAACCAATGGCCTATCCAAGG
ACATGAGCAGTTTACACATCTCACCCAATTCAGGGAATGTCACTAGTGCATCTGGGTCTCAGATGGCAAGCGGCATCAGCCTGGTCTCCTTCAACAGCCG
ACCCGACGGCATGCACCAGCGCTCCTACTCAGTCTCCAGTGCCGACCAGTGGAGTGAGGCTACGGTCATTGCAAACTCGGCCATCAGCAGTGACACAGGG
CTGGGTGACTCCGTATGCTCCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCGACCCGCCCCCCTCYCCTCACGCCAACAGAAAGAAGCACCGAA
GGAAGAAAAGCACTAGCAACTTCAAAGCCGACGGCCTGTCCGGCACTGCTGAAGAACAAGAAGAAAATTTTGAGTTTATCATTGTGTCCCTCACTGGCCA
AACATGGCACTTTGAAGCCACGACGTATGAGGAGCGGGACGCCTGGGTCCAAGCCATCGAGAGCCAGATCCTGGCCAGCCTGCAGTCGTGCGAGAGCAGC
AAGAACAAGTCCCGGCTGACGAGCCAGAGCGAGGCCATGGCCCTGCAGTCGATCCGGAACATGCGCGGGAACTCCCACTGTGTGGACTGCGAGACCCAGA
ATCCCAACTGGGCCAGTTTGAACTTGGGAGCCCTCATGTGCATCGAATGCTCAGGGATCCACCGGAATCTTGGCACCCACCTTTCCCGAGTCCGATCTCT
GGACCTGGATGACTGGCCARTCGAGCTCATCAAGGTGATGTCATCCATCGGGAACGAGCTAGCCAACAGCGTCTGGGAAGAGAGCAGCCAGGGGCGGACG
AAACCATCGGTAGACTCCACAAGGGAAGAGAAGGAACGGTGGATCCGTGCCAAGTACGAGCAGAAGCTCTTCCTGGCCCCGCTGCCCTGCACGGAGCTGT
CCCTGGGCCAGCACCTGCTGCGGGCCACCGCCGACGAGGACCTGCGGACGGCCATCCTGCTGCTGGCACACGGCTCCCGGGAYGAGGTGAACGAGACCTG
CGGGGAGGGAGACGGCCGCACGGCGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCGCAGCTCCTGATCTGGTACGGAGTGGACGTCACGGCC
CGAGATGCCCACGGGAACACAGCKCTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCT
TCGTGCTCATGGCCACCCCYAACCTGTCCAGGAGAAACAATAACCGGAACAACAGCAGTGGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGC
CTGCTCGCCGCACCTGGGACGCGGCAGCCTCGCCGCATTCTCGCTCAGAAGTCRCAGCACGTGAGTCCCGTCGCATCCCCTCCCTCTTCCTGGTGGCCAC
CTCCCTCCCGCCCACCCACTCTCACCCCAAACAAAATCACAAAACCTGGACATCCTCAAGGGGCGAAGAGGCGGCCGGGAGACTGCAGAAGTGGCTCCTT
TTCATAAACTCCCCTAAACCACACACAGGAGAGAGCGACGGGCCTCGGCCCTTTGATGATAGCACATGGCGCAGGACCCTTGTCCTGGKGGCTCAAGGGA
TGGGGACGCGAGGGGGAGGGGAGGCGAGGAACAAGGAGAAGGGGCAACTTTCCTTAACTGGCAGTTGAGCACATAGTACATTTCCCCTCTACCAAACGGA
ACACTTGGATTCCATCTCTTCTCTGAGGAGCTCGACGGCATAAATCAGAAGCAAGCACAGAGTTTGTCAGGTTTGAAGCCCCTATGATGGTGTGTGTCAA
ATCAGTTGTAGCTAATCTGTCCAGGGAGAATACTGGCTTCATTACACTTGTACAGCCGAGTTCTTCCCGCATTACTGCTGTTTAATAGAACGTGATTAGT
CATCGCCGAGAAGAAAGCATATTAGCCGAGGAGGTAGTCACGCGGCACGCGCCGGTGATTGCCACGATGTGATTGCAATACTCTTAGAAGCACCATATTA
TCCCAGACATGTTCTTTCAAGCCCTTGGAGCCCTCTCTAAATTCACTGTCATCATTTAGTATCTGTTTAATTTTTCAGTCCAAAGAGAGGAAATCAGTCG
CTGAGTATTATTTGACTCCGGTCTCCTTGGTGCAAAAACAAAATGGGAAAAATAAATAAGAATAACTCAGAAACTCAAAAGGAAACCACAAATTCAGCTA
ATAATAGCATTTCGAGTATATTTCGTAAACTAAGGAAATACACAAAAGGCTGTTTTTTCCGACTGTAAGAGATATTTGATGTCCTTTTGCCGAGGTGGAT
GTGTTAGTCTCAGGCCCTCCTGGACCACGTTGCCCAAGTCACACAGGCTTCTGTGTTATGTATTTAGATAAGATGTGTGAAAATATATTTGAATAAAAGA
AGTTCATAAATATGCATTGATTTTTGTACAGACAAATGGCACCTCTCTTAATTTATAAATTGAACTGGATGTGAACTAATAATGTGCAACTAGTTGAGAT
AAGAGGGTTACAGATCATTGTACATGGAAAATATTCCCAGC

Protein Sequence    (SEQ ID NO:851):
MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEE
SPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSN
DLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPT
ANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLR
TTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSGNVTSASGSQMASGISLVSFNSRPDGMHQRSYSVSSADQWSEATVIANSAISSDTGLGD
SVCSSPSISSTTSPKLDPPPSPHANRKKHRRKKSTSNFKADGLSGTAEEQEENFEFIIVSLTGQTWHFEATTYEERDAWVQAIESQILASLQSCESSKNK
SRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWASLNLGALMCIECSGIHRNLGTHLSRVRSLDLDDWPIELIKVMSSIGNELANSVWEESSQGRTKPS
VDSTREEKERWIRAKYEQKLFLAPLPCTELSLGQHLLRATADEDLRTAILLLAHGSRDEVNETCGEGDGRTALHLACRKGNVVLAQLLIWYGVDVTARDA
HGNTALAYARQASSQECIDVLLQYGCPDERFVLMATPNLSRRNNNRNNSSGRVPTII


SNP Information

Context             (SEQ ID NO:3582):
TGCCCTGCACGGAGCTGTCCCTGGGCCAGCACCTGCTGCGGGCCACCGCCGACGAGGACCTGCGGACGGCCATCCTGCTGCTGGCACACGGCTCCCGGGA
Y
GAGGTGAACGAGACCTGCGGGGAGGGAGACGGCCGCACGGCGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCGCAGCTCCTGATCTGGTACG
Celera SNP ID:            hCV25962549
SNP Position Transcript:  2883
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 758, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3583):
CAGCTCTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCTTCGTGCTCATGGCCACCCC
Y
AACCTGTCCAGGAGAAACAATAACCGGAACAACAGCAGTGGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGCCTGCTCGCCGCACCTGGGAC
Celera SNP ID:            hCV25963303
SNP Position Transcript:  3120
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,10|T,26)   total(C,36|T,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 837, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:3584):
CGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCGCAGCTCCTGATCTGGTACGGAGTGGACGTCACGGCCCGAGATGCCCACGGGAACACAGC
K
CTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCTTCGTGCTCATGGCCACCCCTAACC
Celera SNP ID:            hCV9087501
SNP Position Transcript:  3024
SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,12)   caucasian(G,9|T,25)   total(G,31|T,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 805, (A,GCG)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|T,4)   total(G,2|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 805, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:3585):
AGCAGTGGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGCCTGCTCGCCGCACCTGGGACGCGGCAGCCTCGCCGCATTCTCGCTCAGAAGTC
R
CAGCACGTGAGTCCCGTCGCATCCCCTCCCTCTTCCTGGTGGCCACCTCCCTCCCGCCCACCCACTCTCACCCCAAACAAAATCACAAAACCTGGACATC
Celera SNP ID:            hCV9087502
SNP Position Transcript:  3254
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,15)   caucasian(A,9|G,25)   total(A,32|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:851, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:851, None   



Context             (SEQ ID NO:3586):
CAAACTCGGCCATCAGCAGTGACACAGGGCTGGGTGACTCCGTATGCTCCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCGACCCGCCCCCCTC
Y
CCTCACGCCAACAGAAAGAAGCACCGAAGGAAGAAAAGCACTAGCAACTTCAAAGCCGACGGCCTGTCCGGCACTGCTGAAGAACAAGAAGAAAATTTTG
Celera SNP ID:            hCV27469184
SNP Position Transcript:  2172
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 521, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:3587):
AAGTGGCTCCTTTTCATAAACTCCCCTAAACCACACACAGGAGAGAGCGACGGGCCTCGGCCCTTTGATGATAGCACATGGCGCAGGACCCTTGTCCTGG
K
GGCTCAAGGGATGGGGACGCGAGGGGGAGGGGAGGCGAGGAACAAGGAGAAGGGGCAACTTTCCTTAACTGGCAGTTGAGCACATAGTACATTTCCCCTC
Celera SNP ID:            hCV8739601
SNP Position Transcript:  3489
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:851, None   



Context             (SEQ ID NO:3588):
CCAGCACCAGCCAGAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCAC
Y
TCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGGCATGC
Celera SNP ID:            hCV15969013
SNP Position Transcript:  1566
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,7|T,5)   total(C,40|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 319, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,284|C,1217)   total(C,1217|T,284) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:851, 319, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:3589):
GAACTTGGGAGCCCTCATGTGCATCGAATGCTCAGGGATCCACCGGAATCTTGGCACCCACCTTTCCCGAGTCCGATCTCTGGACCTGGATGACTGGCCA
R
TCGAGCTCATCAAGGTGATGTCATCCATCGGGAACGAGCTAGCCAACAGCGTCTGGGAAGAGAGCAGCCAGGGGCGGACGAAACCATCGGTAGACTCCAC
Celera SNP ID:            hCV9087216
SNP Position Transcript:  2620
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,6)   caucasian(A,16|G,16)   total(A,48|G,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:851, 671, (I,ATC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,5)      total(G,5|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:851, 671, (I,ATC)   (V,GTC)      



Gene Number:                 70
Celera Gene:                 hCG1811572 - 84000314047455
Celera Transcript:           hCT1953154 - 84000314047456
Public Transcript Accession: NM_014914
Celera Protein:              hCP1765709 - 197000064951294
Public Protein Accession:    NP_055729
Gene Symbol:                 CENTG2
Protein Name:                centaurin, gamma 2;AGAP1;GGAP1;KIAA1099
Celera Genomic Axis:         GA_x5YUV32VWPT(41030436..41661686)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:155):
AGGCGGCGGGCGGCGCTCGGAGCGGGCTCCGCGGCTTGCAAGGCGCCTGCGACTCGGTCCCAGGTCGGCGGGCGGCGCACGGCGGGCTCGCGCGGGGGCC
CCGGCGCGCCGGGCGGCGCAGTACGCAGCGCGCGGACCCACGCCACGGCCAGGAGCCCAGAGCAGCGCGGCCACACTGCCCAGGGGTCGGCCCTCGGCCC
CGGCGCTCGGAGCGCGGCGGCTGCCTGGGCTTTAATGGCTGCTCCGCGGAGCAGCGCCTAGGGCTGGAAGGCGGCTGCGGCTCAGGAAGTCACCCGAGCA
AGCCTCCTTCGGGGCCGGCCGCACCCGCCGCGGCGCGCTCCATGGGGGCGCGCTCCCCCCGGGCGGCCCGCTGACCCGGGACGCCGGGGCCCGCTCGCTC
GCCGGCCGCGCGTCCCGGCCATGAACTGAGCCCGCGGGCCAGCCCCGCGCCTGCTCCGCCCGCGCCTTTCTTCTCGCGCCTCCTCCGCCCGCCGCCGGCG
GGCCCGGCTCCCCGGGGGCTGCGGCGCCCCGGGCTCGGCGGCCCGCGGGCCCCGGGGCGCGGGGCGGCGGCGGCGGGGGGCGCGCGGCTCCGGGCGCGGC
GCCTGCACCATGAACTACCAGCAGCAGCTGGCCAACTCGGCTGCCATCCGGGCCGAGATCCAGCGCTTCGAGTCGGTCCACCCCAACATCTACTCCATCT
ACGAGCTGCTGGAGCGCGTGGAGGAGCCGGTGCTGCAGAACCAGATCCGGGAGCACGTCATCGCCATCGAAGATGCCTTCGTGAACAGCCAGGAATGGAC
GCTGAGTCGATCTGTCCCGGAGCTCAAAGTGGGAATTGTGGGTAACTTGGCCAGCGGCAAGTCTGCCCTGGTGCACCGGTACCTGACGGGCACATATGTC
CAGGAGGAGTCTCCGGAAGGTGGCAGGTTCAAGAAAGAGATTGTCGTTGATGGACAGAGCTATCTGCTGCTGATCAGAGATGAAGGGGGCCCCCCGGAGG
CGCAGTTTGCCATGTGGGTGGACGCTGTTATATTTGTCTTCAGCTTGGAGGATGAAATAAGTTTCCAGACCGTTTACCACTACTACAGTCGAATGGCCAA
CTATCGGAACACGAGCGAGATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCTGCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAAG
CTCTCCAACGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATACGGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCAGAAGATTGTTG
CCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAGTCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTCCGCGCAGGTGTCTGCCGTGCA
CATCAGCCAGACAAGTAATGGAGGTGGGAGTTTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAGCACCAGCCAGAAGGAACTTCGGATCGATGTT
CCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCACYTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGA
AAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGA
GTGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGTGCTGACCTATCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAGGAGATTGAC
CTTCTGAGAACCACTGTGAAAGTCCCAGGGAAGAGGCCACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAAACCAATGGCCTATCCAAGG
ACATGAGCAGTTTACACATCTCACCCAATTCAGACACAGGGCTGGGTGACTCCGTATGCTCCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCGA
CCCGCCCCCCTCYCCTCACGCCAACAGAAAGAAGCACCGAAGGAAGAAAAGCACTAGCAACTTCAAAGCCGACGGCCTGTCCGGCACTGCTGAAGAACAA
GAAGAAAATTTTGAGTTTATCATTGTGTCCCTCACTGGCCAAACATGGCACTTTGAAGCCACGACGTATGAGGAGCGGGACGCCTGGGTCCAAGCCATCG
AGAGCCAGATCCTGGCCAGCCTGCAGTCGTGCGAGAGCAGCAAGAACAAGTCCCGGCTGACGAGCCAGAGCGAGGCCATGGCCCTGCAGTCGATCCGGAA
CATGCGCGGGAACTCCCACTGTGTGGACTGCGAGACCCAGAATCCCAACTGGGCCAGTTTGAACTTGGGAGCCCTCATGTGCATCGAATGCTCAGGGATC
CACCGGAATCTTGGCACCCACCTTTCCCGAGTCCGATCTCTGGACCTGGATGACTGGCCARTCGAGCTCATCAAGGTGATGTCATCCATCGGGAACGAGC
TAGCCAACAGCGTCTGGGAAGAGAGCAGCCAGGGGCGGACGAAACCATCGGTAGACTCCACAAGGGAAGAGAAGGAACGGTGGATCCGTGCCAAGTACGA
GCAGAAGCTCTTCCTGGCCCCGCTGCCCTGCACGGAGCTGTCCCTGGGCCAGCACCTGCTGCGGGCCACCGCCGACGAGGACCTGCGGACGGCCATCCTG
CTGCTGGCACACGGCTCCCGGGAYGAGGTGAACGAGACCTGCGGGGAGGGAGACGGCCGCACGGCGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCC
TGGCGCAGCTCCTGATCTGGTACGGAGTGGACGTCACGGCCCGAGATGCCCACGGGAACACAGCKCTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTG
CATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCTTCGTGCTCATGGCCACCCCYAACCTGTCCAGGAGAAACAATAACCGGAACAACAGCAGT
GGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGCCTGCTCGCCGCACCTGGGACGCGGCAGCCTCGCCGCATTCTCGCTCAGAAGTCRCAGCA
CGTGAGTCCCGTCGCATCCCCTCCCTCTTCCTGGTGGCCACCTCCCTCCCGCCCACCCACTCTCACCCCAAACAAAATCACAAAACCTGGACATCCTCAA
GGGGCGAAGAGGCGGCCGGGAGACTGCAGAAGTGGCTCCTTTTCATAAACTCCCCTAAACCACACACAGGAGAGAGCGACGGGCCTCGGCCCTTTGATGA
TAGCACATGGCGCAGGACCCTTGTCCTGGKGGCTCAAGGGATGGGGACGCGAGGGGGAGGGGAGGCGAGGAACAAGGAGAAGGGGCAACTTTCCTTAACT
GGCAGTTGAGCACATAGTACATTTCCCCTCTACCAAACGGAACACTTGGATTCCATCTCTTCTCTGAGGAGCTCGACGGCATAAATCAGAAGCAAGCACA
GAGTTTGTCAGGTTTGAAGCCCCTATGATGGTGTGTGTCAAATCAGTTGTAGCTAATCTGTCCAGGGAGAATACTGGCTTCATTACACTTGTACAGCCGA
GTTCTTCCCGCATTACTGCTGTTTAATAGAACGTGATTAGTCATCGCCGAGAAGAAAGCATATTAGCCGAGGAGGTAGTCACGCGGCACGCGCCGGTGAT
TGCCACGATGTGATTGCAATACTCTTAGAAGCACCATATTATCCCAGACATGTTCTTTCAAGCCCTTGGAGCCCTCTCTAAATTCACTGTCATCATTTAG
TATCTGTTTAATTTTTCAGTCCAAAGAGAGGAAATCAGTCGCTGAGTATTATTTGACTCCGGTCTCCTTGGTGCAAAAACAAAATGGGAAAAATAAATAA
GAATAACTCAGAAACTCAAAAGGAAACCACAAATTCAGCTAATAATAGCATTTCGAGTATATTTCGTAAACTAAGGAAATACACAAAAGGCTGTTTTTTC
CGACTGTAAGAGATATTTGATGTCCTTTTGCCGAGGTGGATGTGTTAGTCTCAGGCCCTCCTGGACCACGTTGCCCAAGTCACACAGGCTTCTGTGTTAT
GTATTTAGATAAGATGTGTGAAAATATATTTGAATAAAAGAAGTTCATAAATATGCATTGATTTTTGTACAGACAAATGGCACCTCTCTTAATTTATAAA
TTGAACTGGATGTGAACTAATAATGTGCAACTAGTTGAGATAAGAGGGTTACAGATCATTGTACATGGAAAATATTCCCAGC

Protein Sequence    (SEQ ID NO:852):
MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEE
SPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSN
DLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPT
ANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLR
TTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSDTGLGDSVCSSPSISSTTSPKLDPPPSPHANRKKHRRKKSTSNFKADGLSGTAEEQEEN
FEFIIVSLTGQTWHFEATTYEERDAWVQAIESQILASLQSCESSKNKSRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWASLNLGALMCIECSGIHRN
LGTHLSRVRSLDLDDWPIELIKVMSSIGNELANSVWEESSQGRTKPSVDSTREEKERWIRAKYEQKLFLAPLPCTELSLGQHLLRATADEDLRTAILLLA
HGSRDEVNETCGEGDGRTALHLACRKGNVVLAQLLIWYGVDVTARDAHGNTALAYARQASSQECIDVLLQYGCPDERFVLMATPNLSRRNNNRNNSSGRV
PTII


SNP Information

Context             (SEQ ID NO:3590):
TGCCCTGCACGGAGCTGTCCCTGGGCCAGCACCTGCTGCGGGCCACCGCCGACGAGGACCTGCGGACGGCCATCCTGCTGCTGGCACACGGCTCCCGGGA
Y
GAGGTGAACGAGACCTGCGGGGAGGGAGACGGCCGCACGGCGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCGCAGCTCCTGATCTGGTACG
Celera SNP ID:            hCV25962549
SNP Position Transcript:  2724
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 705, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3591):
CAGCTCTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCTTCGTGCTCATGGCCACCCC
Y
AACCTGTCCAGGAGAAACAATAACCGGAACAACAGCAGTGGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGCCTGCTCGCCGCACCTGGGAC
Celera SNP ID:            hCV25963303
SNP Position Transcript:  2961
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,10|T,26)   total(C,36|T,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 784, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:3592):
CGCTGCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCGCAGCTCCTGATCTGGTACGGAGTGGACGTCACGGCCCGAGATGCCCACGGGAACACAGC
K
CTGGCCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCGACGTGCTGCTGCAGTACGGCTGCCCCGACGAGCGCTTCGTGCTCATGGCCACCCCTAACC
Celera SNP ID:            hCV9087501
SNP Position Transcript:  2865
SNP Source:               Applera
Population(Allele,Count): african american(G,22|T,12)   caucasian(G,9|T,25)   total(G,31|T,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 752, (A,GCG)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|T,4)   total(G,2|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 752, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:3593):
AGCAGTGGGAGGGTGCCCACCATCATCTGAGGAACAGCCGTGCCCGCCTGCTCGCCGCACCTGGGACGCGGCAGCCTCGCCGCATTCTCGCTCAGAAGTC
R
CAGCACGTGAGTCCCGTCGCATCCCCTCCCTCTTCCTGGTGGCCACCTCCCTCCCGCCCACCCACTCTCACCCCAAACAAAATCACAAAACCTGGACATC
Celera SNP ID:            hCV9087502
SNP Position Transcript:  3095
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,15)   caucasian(A,9|G,25)   total(A,32|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:852, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:852, None   



Context             (SEQ ID NO:3594):
TACACATCTCACCCAATTCAGACACAGGGCTGGGTGACTCCGTATGCTCCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCGACCCGCCCCCCTC
Y
CCTCACGCCAACAGAAAGAAGCACCGAAGGAAGAAAAGCACTAGCAACTTCAAAGCCGACGGCCTGTCCGGCACTGCTGAAGAACAAGAAGAAAATTTTG
Celera SNP ID:            hCV27469184
SNP Position Transcript:  2013
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 468, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:3595):
AAGTGGCTCCTTTTCATAAACTCCCCTAAACCACACACAGGAGAGAGCGACGGGCCTCGGCCCTTTGATGATAGCACATGGCGCAGGACCCTTGTCCTGG
K
GGCTCAAGGGATGGGGACGCGAGGGGGAGGGGAGGCGAGGAACAAGGAGAAGGGGCAACTTTCCTTAACTGGCAGTTGAGCACATAGTACATTTCCCCTC
Celera SNP ID:            hCV8739601
SNP Position Transcript:  3330
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:852, None   



Context             (SEQ ID NO:3596):
CCAGCACCAGCCAGAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCAC
Y
TCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGGCATGC
Celera SNP ID:            hCV15969013
SNP Position Transcript:  1566
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,7|T,5)   total(C,40|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 319, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,284|C,1217)   total(C,1217|T,284) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:852, 319, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:3597):
GAACTTGGGAGCCCTCATGTGCATCGAATGCTCAGGGATCCACCGGAATCTTGGCACCCACCTTTCCCGAGTCCGATCTCTGGACCTGGATGACTGGCCA
R
TCGAGCTCATCAAGGTGATGTCATCCATCGGGAACGAGCTAGCCAACAGCGTCTGGGAAGAGAGCAGCCAGGGGCGGACGAAACCATCGGTAGACTCCAC
Celera SNP ID:            hCV9087216
SNP Position Transcript:  2461
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,6)   caucasian(A,16|G,16)   total(A,48|G,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:852, 618, (I,ATC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,5)      total(G,5|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:852, 618, (I,ATC)   (V,GTC)      



Gene Number:                 71
Celera Gene:                 hCG1811721 - 104000117287023
Celera Transcript:           hCT1954032 - 104000117287024
Public Transcript Accession: NM_020166
Celera Protein:              hCP1761626 - 197000064917356
Public Protein Accession:    NP_064551
Gene Symbol:                 MCCC1
Protein Name:                methylcrotonoyl-Coenzyme A carboxylase 1 (alpha);MCC-B;MCCA
Celera Genomic Axis:         GA_x5YUV32VYQG(12508108..12592347)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:156):
GGATCAGCCCAAAGGTAGGCTCAGGCTCCGACGGTGGCCSGCGGGGGTCACGAGGCTTCGTAGTGGAGGAACGGGTTTGGCGTGTGRGACGCAGCTGCCT
CTGTACTGGGGAGTMACGGAGTGGCCGGGCTCCAGGGACATGGCGGCGGCCTCTGCGGTGTCGGTGCTGCTGGTGGCGGCGGAGAGGAACCGGTGGCATC
GTCTCCCGAGCCTGCTCCTGCCGCCGAGGACATGGGTGTGGAGGCAAAGAACCATGAAGTACACAACAGCCACAGGAAGAAACATTACCAAGGTCCTCAT
TGCAAACAGAGGAGAAATTGCCTGCAGGGTGATGCGCACAGCCAAAAAACTGGGTGTACAGACTGTGGCGGTTTATAGTGAGGCTGACAGAAATTCCATG
CATGTAGATATGGCAGATGAAGCATATTCCATCGGCCCCGCTCCCTCCCAGCAGAGCTACCTATCTATGGAGAAAATCATTCAAGTGGCCAAGACCTCTG
CTGCACAGGCTATCCATCCAGGATGCGGTTTTCTTTCAGAAAACATGGAATTTGCTGAACTTTGTAAGCAAGAAGGAATTATTTTTATAGGCCCTCCTCC
ATCTGCAATTAGAGACATGGGTATAAAGAGCACATCCAAATCCATAATGGCTGCTGCTGGAGTACCTGTTGTGGAGGGTTATCATGGTGAGGACCAATCA
GACCAGTGCCTGAAGGAACACGCCAGGAGAATTGGCTATCCTGTCATGATTAAAGCCGTCCGGGGTGGAGGAGGAAAAGGAATGAGGATTGTTAGATCAG
AACAAGAATTTCAAGAACAGTTAGAGTCAGCACGGAGAGAAGCTAAGAAGTCTTTCAATGATGAYGCTATGCTGATCGAGAAGTTTGTAGACACACCGAG
GCATGTAGAAGTCCAGGTGTTTGGTGATCACCATGGCAATGCTGTGTACTTGTTTGAAAGAGACTGTAGTGTGCAGAGGCGACATCAGAAGATCATTGAG
GAGGCCCCAGCGCCTGGTATTAAATCTGAAGTAAGAAAAAAGCTGGGAGAAGCTGCAGTCAGAGCTGCTAAAGCTGTAAATTATGTTGGAGCAGGGACTG
TGGAGTTTATTATGGACTCAAAACATAATTTCTGTTTCATGGAGATGAATACAAGGCTGCAAGTGGAACATCCTGTTACTGAGATGATCACAGGAACTGA
CTTGGTGGAGTGGCAGCTTAGAATTGCAGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTGCAGGGCCATGCCTTCGAAGCTAGMATATAT
GCAGAAGATCCTAGCAATAACTTCATGCCTGTGGCAGGCCCATTAGTGCACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAAACTGGAGTAC
GGCAAGGAGACGAAGTTTCCGTGCATTATGACCCCATGATTGCGAAGCYGGTCGTGTGGGCAGCAGATCGCCAGGCGGCATTGACAAAACTGAGGTACAG
CCTTCGTCAGTACAATATTGTTGGACTGCMCACCAACATTGACTTCTTACTCAACCTGTCTGGCCACCCAGAGTTTGAAGCTGGGAACGTGCACACTGAT
TTCATCCCTCAACACCACAAACAGTTGTTGCTCAGTCGGAAGGCTGCAGCCAAAGAGTCTTTATGCCAGGCAGCCCTGGGTCTCATCCTCAAGGAGAAAG
CCATGACCGACACTTTCACTCTTCAGGCACATGATCAATTCTYTCCATTTTCRTCTAGCAGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGAC
TCTTAAAGATGGTAAAAMCAATGTAGCCATAGCTGTAACGTATAACCATGATGGGTCTTATAGCATGCAGATTGAAGATAAAACTTTCCAAGTCCTTGGT
AATCTTTACAGCGAGGGAGACTGCACTTACCTGAAATGTTCTGTTAATGGAGTTGCTAGTAAAGCGAAGCTGATTATCCTGGAAAACACTATTTACCTAT
TTTCCAAGGAAGGAAGTATTGAGATTGACATTCCAGTCCCCAAATACTTATCTTCTGTGAGCTCACAAGAAACTCAGGGCGGCCCCTTAGCTCCTATGAC
TGGAACCATTGAAAAGGTGTTTGTCAAAGCTGGAGACAAAGTGAAAGCGGGAGATTCCCTCATGGTTATGATCGCCATGAAGATGGAGCATACCATAAAG
TCTCCAAAGGATGGCACAGTAAAGAAAGTGTTCTACAGAGAAGGTGCTCAGGCCAACAGACACACTCCTTTAGTCGAGTTTGAGGAGRAAGAATCAGACA
AAAGGGAATCGGAATAAACTCCAGCAAGGAAATGGCCAGTTAAGTAGTGTCTTCTCTCTCCACCAAAAAGAGGAAGTGCCTCCAGCTTTTCTGGGGGTCT
CATAAAGAGCAGTTTTACTAAATGATTGTATGCTTATGCTGAACACCTTTCATATTGGAGAATCATGCATTTGGGTCACTAATTATCTCAAAATATTTCA
TACTAATAAAGTTGAATTATTTTTTATTGGAAGCCAATG

Protein Sequence    (SEQ ID NO:853):
MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEIACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGP
APSQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGY
PVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAG
PLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLPTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSR
KAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYR
EGAQANRHTPLVEFEEEESDKRESE


SNP Information

Context             (SEQ ID NO:3598):
GTGGAGGAGGAAAAGGAATGAGGATTGTTAGATCAGAACAAGAATTTCAAGAACAGTTAGAGTCAGCACGGAGAGAAGCTAAGAAGTCTTTCAATGATGA
Y
GCTATGCTGATCGAGAAGTTTGTAGACACACCGAGGCATGTAGAAGTCCAGGTGTTTGGTGATCACCATGGCAATGCTGTGTACTTGTTTGAAAGAGACT
Celera SNP ID:            hCV25965247
SNP Position Transcript:  865
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,34)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:853, 242, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3599):
GAACTGACTTGGTGGAGTGGCAGCTTAGAATTGCAGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTGCAGGGCCATGCCTTCGAAGCTAG
M
ATATATGCAGAAGATCCTAGCAATAACTTCATGCCTGTGGCAGGCCCATTAGTGCACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAAACTG
Celera SNP ID:            hCV27531039
SNP Position Transcript:  1294
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 385, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:3600):
GCATACCATAAAGTCTCCAAAGGATGGCACAGTAAAGAAAGTGTTCTACAGAGAAGGTGCTCAGGCCAACAGACACACTCCTTTAGTCGAGTTTGAGGAG
R
AAGAATCAGACAAAAGGGAATCGGAATAAACTCCAGCAAGGAAATGGCCAGTTAAGTAGTGTCTTCTCTCTCCACCAAAAAGAGGAAGTGCCTCCAGCTT
Celera SNP ID:            hCV25964364
SNP Position Transcript:  2288
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 717, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:3601):
GACCCCATGATTGCGAAGCTGGTCGTGTGGGCAGCAGATCGCCAGGCGGCATTGACAAAACTGAGGTACAGCCTTCGTCAGTACAATATTGTTGGACTGC
M
CACCAACATTGACTTCTTACTCAACCTGTCTGGCCACCCAGAGTTTGAAGCTGGGAACGTGCACACTGATTTCATCCCTCAACACCACAAACAGTTGTTG
Celera SNP ID:            hCV1475808
SNP Position Transcript:  1530
SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,15)   caucasian(A,14|C,26)   total(A,35|C,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 464, (H,CAC)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,6)      total(A,4|C,6) ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 464, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:3602):
GGATCAGCCCAAAGGTAGGCTCAGGCTCCGACGGTGGCC
S
GCGGGGGTCACGAGGCTTCGTAGTGGAGGAACGGGTTTGGCGTGTGGGACGCAGCTGCCTCTGTACTGGGGAGTCACGGAGTGGCCGGGCTCCAGGGACA
Celera SNP ID:            hCV8255336
SNP Position Transcript:  40
SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,27)   caucasian(C,27|G,13)   total(C,38|G,40)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:853, None

SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,24)   caucasian(C,19|G,9)   total(C,29|G,33)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:853, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:853, None   



Context             (SEQ ID NO:3603):
GGATCAGCCCAAAGGTAGGCTCAGGCTCCGACGGTGGCCCGCGGGGGTCACGAGGCTTCGTAGTGGAGGAACGGGTTTGGCGTGTG
R
GACGCAGCTGCCTCTGTACTGGGGAGTCACGGAGTGGCCGGGCTCCAGGGACATGGCGGCGGCCTCTGCGGTGTCGGTGCTGCTGGTGGCGGCGGAGAGG
Celera SNP ID:            hCV25970778
SNP Position Transcript:  87
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:853, None



Context             (SEQ ID NO:3604):
CACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAAACTGGAGTACGGCAAGGAGACGAAGTTTCCGTGCATTATGACCCCATGATTGCGAAGC
Y
GGTCGTGTGGGCAGCAGATCGCCAGGCGGCATTGACAAAACTGAGGTACAGCCTTCGTCAGTACAATATTGTTGGACTGCCCACCAACATTGACTTCTTA
Celera SNP ID:            hCV27536138
SNP Position Transcript:  1449
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 437, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:3605):
GCTGCAGCCAAAGAGTCTTTATGCCAGGCAGCCCTGGGTCTCATCCTCAAGGAGAAAGCCATGACCGACACTTTCACTCTTCAGGCACATGATCAATTCT
Y
TCCATTTTCGTCTAGCAGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGACTCTTAAAGATGGTAAAAACAATGTAGCCATAGCTGTAACGTAT
Celera SNP ID:            hCV27862985
SNP Position Transcript:  1743
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 535, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:3606):
GTAGGCTCAGGCTCCGACGGTGGCCCGCGGGGGTCACGAGGCTTCGTAGTGGAGGAACGGGTTTGGCGTGTGGGACGCAGCTGCCTCTGTACTGGGGAGT
M
ACGGAGTGGCCGGGCTCCAGGGACATGGCGGCGGCCTCTGCGGTGTCGGTGCTGCTGGTGGCGGCGGAGAGGAACCGGTGGCATCGTCTCCCGAGCCTGC
Celera SNP ID:            hCV25970279
SNP Position Transcript:  115
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:853, None



Context             (SEQ ID NO:3607):
ACTCTTCAGGCACATGATCAATTCTCTCCATTTTCGTCTAGCAGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGACTCTTAAAGATGGTAAAA
M
CAATGTAGCCATAGCTGTAACGTATAACCATGATGGGTCTTATAGCATGCAGATTGAAGATAAAACTTTCCAAGTCCTTGGTAATCTTTACAGCGAGGGA
Celera SNP ID:            hCV25956146
SNP Position Transcript:  1818
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,7)   caucasian(A,4|C,2)   total(A,9|C,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:853, 560, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:3608):
AAGAGTCTTTATGCCAGGCAGCCCTGGGTCTCATCCTCAAGGAGAAAGCCATGACCGACACTTTCACTCTTCAGGCACATGATCAATTCTCTCCATTTTC
R
TCTAGCAGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGACTCTTAAAGATGGTAAAAACAATGTAGCCATAGCTGTAACGTATAACCATGATG
Celera SNP ID:            hCV25956270
SNP Position Transcript:  1753
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,37)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:853, 538, (S,TCA)   (S,TCG)   



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT2253473 - 115000158384508
Public Transcript Accession: NM_018125
Celera Protein:              hCP1854971 - 197000069368105
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(753978..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:157):
ACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCA
TCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCAGGTGGCTGAGATC
CAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACGTTGACGGAGACCG
TGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCT
GGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGC
ACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCC
TCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGCTGCACGGCACCTACCAGAACCTGAACAT
GACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGCCAACAAGTGCCGTCTCAGGCTCCTGCTT
CCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGCAAGATTTCCTGGGTCAACAGGTTACATT
TGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAGCCCCATTCTGGTGCCCGATCCTGGCCTG
CTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCMGTCAGC
ACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCACYG
TCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGA
CCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGC
TGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGA
CCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCACCCTGTTGAGCCTGGAGGATGCCGTGTG
GGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCACCAGGACGAGGCAGTGAGCGTGACACAC
ATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAGACCCTGGAGCATCTGCAAGAGATCAACA
TCGCCACCAGGACCACCTTCCTCCTGCCAGACAGGTCATTAATAAAATGTTCTCCAAGAGCCTGAGCTTTTTAAAGTTGTATATCTCCAGATAGATGGCT
TGGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGGGTCTGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCG
GCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAAYGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTAYCAGCATCCTGGCC
CCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGAYAGCCACG
TGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGGAGCCGGC
GCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGACRTCTGGGTGCGCAGCCGGCCCTGCGCC
CGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGG
CCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGCRCCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGA
CCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGACTCTCCAGAAACTACTTGGGCCAGAGCAAAGGAAAACCT
CTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTTTAGGGCTTGGGGAGAGGGAGGACACATCTGGAGGAAATGGCCTTCTTTTTAAAAG
CAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACAYGCCCCTCCTGGAAGGGTG
TGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTATAAATAAAGTCTGTACAT
ATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATCTGGA

Protein Sequence    (SEQ ID NO:854):
MVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKLNEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQL
IKSKERRVFLLNDMLVCANINFKGQLEISSLVPLGPKYVVKWNTALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDL
QKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMRVKEEEIHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLRE
ENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLGALVHSPVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAA
PVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQDGSILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWD
LESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTLQPQQSFEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFL
LPDRSLIKCSPRA


SNP Information

Context             (SEQ ID NO:3609):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  2193
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None   



Context             (SEQ ID NO:3610):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  2561
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None   



Context             (SEQ ID NO:3611):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  2087
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None



Context             (SEQ ID NO:3612):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  1094
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 357, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3613):
GTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  407
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 128, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3614):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  2882
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None   



Context             (SEQ ID NO:3615):
ACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  59
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:854, 12, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:854, 12, (I,ATA)   (I,ATC)      12, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3616):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 214, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3617):
ACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  458
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 145, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3618):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  1406
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 461, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3619):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  2049
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None   



Context             (SEQ ID NO:3620):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  1199
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 392, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3621):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  1313
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 430, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:854, 430, (T,ACA)   (T,ACG)      430, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3622):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  2374
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:854, None   



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT2253475 - 115000158384528
Public Transcript Accession: NM_018125
Celera Protein:              hCP1854972 - 197000069368106
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(667959..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:158):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCCKCCTCCACA
GCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGAT
GAAGAGGACACCARCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGRACTCCATCCCTGTCACTGACC
CAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTCCGGGGCCCGGCACTCCAGCTG
GAAGCGGAAGAGTTCCCGTCGCATTGACCGGTTCACTTTCCCCGCCCTGGAAGAGGATGTGATTTATGACGACGTCCCCTGCGAGAGCCCAGATGCGCAT
CAGCCCGGGGCAGAGAGGAACCTGCTCTACGAGGATGCGCACCGGGCTGGGGCCCCTCGGCAGGCGGAGGACCTAGGCTGGAGCTCCAGTGAGTTCGAGA
GCTACAGCGAGGACTCGGGGGAGGAGGCCAAGCCGGAGGTCGAGGTCGAGCCCGCCAAGCACCGAGTGTCCTTCCAGCCCAAGCTTTCTCCAGACCTGAC
TAGGCTAAAGGAGAGATACGCCAGGACTAAGAGAGACATCTTGGCTTTGAGAGTTGGGGGGAGAGACATGCAGGAGCTGAAGCACAAGTACGATTGTAAG
ATGACCCAGCTCATGAAGGCCGCCAAGAGCGGGACCAAGGATGGGCTGGAGAAGACACGGATGGCCGTGATGCGCAAAGTCTCCTTCCTGCACAGGAAGG
ACGTCCTCGGTGACTCGGAGGAGGAGGACATGGGGCTCCTGGAGGTCAGCGTTTCGGACATCAAGCCCCCAGCCCCAGAGCTGGGCCCCATGCCAGAGGG
CCTGAGCCCTCAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTAC
CGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCGYCCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGT
TCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCCACCGAGAAGATCGGGGACCTCTTCGTGGCCTCGTTTTCCAAGTCCATGGTGCTAGATGT
GTACAGTGACTACGTGAACAACTTCACCAGTGCCATGTCCATCATCAAGAAGGCCTGCCTCACCAAGCCTGCCTTCCTCGAGTTCCTCAAGGTGGGCCTC
CATGGTGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACACCCCCA
GGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCAGGTGGC
TGAGATCCAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACGTTGACG
GAGACCGTGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGG
GCCAGCTGGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGA
CGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAGAATAAGGTGTACCTCGGCCCC
CCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGCTGCACGGCACCTACCAGAACC
TGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGCCAACAAGTGCCGTCTCAGGCT
CCTGCTTCCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGCAAGATTTCCTGGGTCAACAGG
TTACATTTGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAGCCCCATTCTGGTGCCCGATCC
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
MGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCC
CGCACYGTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAG
TTGCTGACCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCT
GGTGAGCTGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTAC
CCTCGGACCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCACCCTGTTGAGCCTGGAGGATG
CCGTGTGGGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCACCAGGACGAGGCAGTGAGCGT
GACACACATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAGACCCTGGAGCATCTGCAAGAG
ATCAACATCGCCACCAGGACCACCTTCCTCCTGCCAGACAGGTCATTAATAAAATGTTCTCCAAGAGCCTGAGCTTTTTAAAGTTGTATATCTCCAGATA
GATGGCTTGGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGGGTCTGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCG
TGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAAYGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTAYCAGCAT
CCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGAY
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
AGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGACRTCTGGGTGCGCAGCCGGCC
CTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGG
AGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGCRCCTCCCCTCTCCCCTCAGAGGGCACAGCTGCA
GGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGACTCTCCAGAAACTACTTGGGCCAGAGCAAAGG
AAAACCTCTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTTTAGGGCTTGGGGAGAGGGAGGACACATCTGGAGGAAATGGCCTTCTTT
TTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACAYGCCCCTCCTGG
AAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTATAAATAAAGTC
TGTACATATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATCTGGA

Protein Sequence    (SEQ ID NO:855):
MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAA
FSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSF
QPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVAS
FSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKVGLHGDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKLNE
QKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKGQLEISSLVPLGPKYVVKWNTALPQ
VQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMRVKEEEIH
SANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLGALVHSPV
NCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQDGSILLYS
SVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTLQPQQSFE
AHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPDRSLIKCSPRA


SNP Information

Context             (SEQ ID NO:3623):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  3600
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None   



Context             (SEQ ID NO:3624):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  3968
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None   



Context             (SEQ ID NO:3625):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  4289
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None   



Context             (SEQ ID NO:3626):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  2072
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 666, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3627):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  3456
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None   



Context             (SEQ ID NO:3628):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  2606
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 844, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3629):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  3494
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None



Context             (SEQ ID NO:3630):
GTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  1814
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 580, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3631):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  2501
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 809, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3632):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCC
K
CCTCCACAGCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACA
Celera SNP ID:            hCV3155367
SNP Position Transcript:  92
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,6)   total(G,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 6, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3633):
TCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTACCGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCG
Y
CCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGTTCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCC
Celera SNP ID:            hCV25934640
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:855, 356, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:3634):
AGCCTGCCTTCCTCGAGTTCCTCAAGGTGGGCCTCCATGGTGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  1466
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:855, 464, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:855, 464, (I,ATA)   (I,ATC)      464, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3635):
TGAGTTTGATGACAGTGATGATGAAGAGGACACCAGCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTG
R
ACTCCATCCCTGTCACTGACCCAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTC
Celera SNP ID:            hCV25934188
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,4|G,36)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:855, 69, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3636):
GATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGATGAAGAGGACACCA
R
CGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGGACTCCATCCCTGTCACTGACCCAGACCCAGCAGCT
Celera SNP ID:            hCV25934554
SNP Position Transcript:  214
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,40)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:855, 47, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3637):
ACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  1865
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 597, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3638):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  2813
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 913, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3639):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  2720
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 882, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:855, 882, (T,ACA)   (T,ACG)      882, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3640):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  3781
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:855, None   



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT2253471 - 115000158384593
Public Transcript Accession: NM_018125
Celera Protein:              hCP1854974 - 197000069368108
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(667959..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:159):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCCKCCTCCACA
GCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGAT
GAAGAGGACACCARCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGRACTCCATCCCTGTCACTGACC
CAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTCCGGGGCCCGGCACTCCAGCTG
GAAGCGGAAGAGTTCCCGTCGCATTGACCGGTTCACTTTCCCCGCCCTGGAAGAGGATGTGATTTATGACGACGTCCCCTGCGAGAGCCCAGATGCGCAT
CAGCCCGGGGCAGAGAGGAACCTGCTCTACGAGGATGCGCACCGGGCTGGGGCCCCTCGGCAGGCGGAGGACCTAGGCTGGAGCTCCAGTGAGTTCGAGA
GCTACAGCGAGGACTCGGGGGAGGAGGCCAAGCCGGAGGTCGAGGTCGAGCCCGCCAAGCACCGAGTGTCCTTCCAGCCCAAGCTTTCTCCAGACCTGAC
TAGGCTAAAGGAGAGATACGCCAGGACTAAGAGAGACATCTTGGCTTTGAGAGTTGGGGGGAGAGACATGCAGGAGCTGAAGCACAAGTACGATTGTAAG
ATGACCCAGCTCATGAAGGCCGCCAAGAGCGGGACCAAGGATGGGCTGGAGAAGACACGGATGGCCGTGATGCGCAAAGTCTCCTTCCTGCACAGGAAGG
ACGTCCTCGGTGACTCGGAGGAGGAGGACATGGGGCTCCTGGAGGTCAGCGTTTCGGACATCAAGCCCCCAGCCCCAGAGCTGGGCCCCATGCCAGAGGG
CCTGAGCCCTCAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTAC
CGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCGYCCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGT
TCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCCACCGAGAAGATCGGGGACCTCTTCGTGGCCTCGTTTTCCAAGTCCATGGTGCTAGATGT
GTACAGTGACTACGTGAACAACTTCACCAGTGCCATGTCCATCATCAAGAAGGCCTGCCTCACCAAGCCTGCCTTCCTCGAGTTCCTCAAGCGACGGCAG
GTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACA
CCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCA
GGTGGCTGAGATCCAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACG
TTGACGGAGACCGTGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACT
TCAAGCCTGCCAACCACAGGGGCCAGCTGGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCA
GGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAG
AATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGC
TGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGC
CAACAAGTGCCGTCTCAGGCTCCTGCTTCCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGC
AAGATTTCCTGGGTCAACAGGTTACATTTGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAG
CCCCATTCTGGTGCCCGATCCTGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTG
TCCCCTGCTGGGTTTCTCAGCMGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTT
TCCTTGAACCGGCCCTCGCCCCGCACYGTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGA
GCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGT
GGACACTGGCACCCAGTGCCTGGTGAGCTGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAG
GATGGGACCCTTGCTGCTTACCCTCGGACCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCA
CCCTGTTGAGCCTGGAGGATGCCGTGTGGGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCA
CCAGGACGAGGCAGTGAGCGTGACACACATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAG
ACCCTGGAGCATCTGCAAGAGATCAACATCGCCACCAGGACCACCTTCCTCCTGCCAGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGG
GTCTGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACT
CAAYGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTAYCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGG
GCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGAYAGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACC
GCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTC
CATTTACGAGATGGCCGACGACCCCGACRTCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCC
GGCGGGCAGGGCTACCGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGC
CCTTGATGCTATAGCRCCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACT
TGTGGATGGGCCTGGACTCTCCAGAAACTACTTGGGCCAGAGCAAAGGAAAACCTCTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTT
TAGGGCTTGGGGAGAGGGAGGACACATCTGGAGGAAATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCAC
TTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACAYGCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATAT
CTATAAATAAGTATATATGGTGTATATTATATGTGTATAAATAAAGTCTGTACATATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATC
TGGA

Protein Sequence    (SEQ ID NO:856):
MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAA
FSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSF
QPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVAS
FSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKRRQVCSPDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKL
NEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKPANHRGQLEISSLVPLGPKYVVK
WNTALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMR
VKEEEIHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLG
ALVHSPVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQD
GSILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTL
QPQQSFEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPGQKHLCVTSLLICQGLLWVGTDQGVIVLLPVPRLEGIPK
ITGKGMVSLNGHCGPVAFLAVATSILAPDILRSDQEEAEGPRAEEDKPDGQAHEPMPDSHVGRELTRKKGILLQYRLRSTAHLPGPLLSMREPAPADGAA
LEHSEEDGSIYEMADDPDIWVRSRPCARDAHRKEICSVAIISGGQGYRNFGSALGSSGRQAPCGETDSTLLIWQVPLML


SNP Information

Context             (SEQ ID NO:3641):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  3548
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1158, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1158, (D,GAT)   (D,GAC)      1158, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3642):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  3916
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:856, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:856, None   



Context             (SEQ ID NO:3643):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  4237
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:856, None   



Context             (SEQ ID NO:3644):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  2093
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 673, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3645):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  3404
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1110, (N,AAC)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1110, (N,AAC)   (N,AAT)      1110, (N,AAT)   (N,AAC)      



Context             (SEQ ID NO:3646):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  2627
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 851, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3647):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  3442
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1123, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:3648):
TAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGCCTGCCAACCACAGGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  1835
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 587, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3649):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  2522
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 816, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3650):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCC
K
CCTCCACAGCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACA
Celera SNP ID:            hCV3155367
SNP Position Transcript:  92
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,6)   total(G,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 6, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3651):
TCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTACCGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCG
Y
CCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGTTCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCC
Celera SNP ID:            hCV25934640
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 356, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:3652):
CCTTCCTCGAGTTCCTCAAGCGACGGCAGGTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 466, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 466, (I,ATA)   (I,ATC)      466, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3653):
TGAGTTTGATGACAGTGATGATGAAGAGGACACCAGCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTG
R
ACTCCATCCCTGTCACTGACCCAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTC
Celera SNP ID:            hCV25934188
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,4|G,36)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 69, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3654):
GATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGATGAAGAGGACACCA
R
CGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGGACTCCATCCCTGTCACTGACCCAGACCCAGCAGCT
Celera SNP ID:            hCV25934554
SNP Position Transcript:  214
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,40)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 47, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3655):
GTGCCAACATCAACTTCAAGCCTGCCAACCACAGGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  1886
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 604, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3656):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  2834
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 920, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3657):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  2741
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 889, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:856, 889, (T,ACA)   (T,ACG)      889, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3658):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  3729
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1219, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1219, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:856, 1219, (I,ATC)   (V,GTC)      1219, (V,GTC)   (I,ATC)      



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT1955046 - 115000158384561
Public Transcript Accession: NM_018125
Celera Protein:              hCP1765660 - 197000069368107
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(667959..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:160):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCCKCCTCCACA
GCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGAT
GAAGAGGACACCARCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGRACTCCATCCCTGTCACTGACC
CAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTCCGGGGCCCGGCACTCCAGCTG
GAAGCGGAAGAGTTCCCGTCGCATTGACCGGTTCACTTTCCCCGCCCTGGAAGAGGATGTGATTTATGACGACGTCCCCTGCGAGAGCCCAGATGCGCAT
CAGCCCGGGGCAGAGAGGAACCTGCTCTACGAGGATGCGCACCGGGCTGGGGCCCCTCGGCAGGCGGAGGACCTAGGCTGGAGCTCCAGTGAGTTCGAGA
GCTACAGCGAGGACTCGGGGGAGGAGGCCAAGCCGGAGGTCGAGGTCGAGCCCGCCAAGCACCGAGTGTCCTTCCAGCCCAAGCTTTCTCCAGACCTGAC
TAGGCTAAAGGAGAGATACGCCAGGACTAAGAGAGACATCTTGGCTTTGAGAGTTGGGGGGAGAGACATGCAGGAGCTGAAGCACAAGTACGATTGTAAG
ATGACCCAGCTCATGAAGGCCGCCAAGAGCGGGACCAAGGATGGGCTGGAGAAGACACGGATGGCCGTGATGCGCAAAGTCTCCTTCCTGCACAGGAAGG
ACGTCCTCGGTGACTCGGAGGAGGAGGACATGGGGCTCCTGGAGGTCAGCGTTTCGGACATCAAGCCCCCAGCCCCAGAGCTGGGCCCCATGCCAGAGGG
CCTGAGCCCTCAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTAC
CGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCGYCCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGT
TCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCCACCGAGAAGATCGGGGACCTCTTCGTGGCCTCGTTTTCCAAGTCCATGGTGCTAGATGT
GTACAGTGACTACGTGAACAACTTCACCAGTGCCATGTCCATCATCAAGAAGGCCTGCCTCACCAAGCCTGCCTTCCTCGAGTTCCTCAAGCGACGGCAG
GTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACA
CCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCA
GGTGGCTGAGATCCAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACG
TTGACGGAGACCGTGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACT
TCAATTCCAACAGGGGCCAGCTGGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCAGGTGGT
GGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAGAATAAG
GTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGCTGCACG
GCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGCCAACAA
GTGCCGTCTCAGGCTCCTGCTTCCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGCAAGATT
TCCTGGGTCAACAGGTTACATTTGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAGCCCCAT
TCTGGTGCCCGATCCTGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCT
GCTGGGTTTCTCAGCMGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTG
AACCGGCCCTCGCCCCGCACYGTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAG
ACGAGAGCCCGACAGTTGCTGACCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACAC
TGGCACCCAGTGCCTGGTGAGCTGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGG
ACCCTTGCTGCTTACCCTCGGACCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCACCCTGT
TGAGCCTGGAGGATGCCGTGTGGGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCACCAGGA
CGAGGCAGTGAGCGTGACACACATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAGACCCTG
GAGCATCTGCAAGAGATCAACATCGCCACCAGGACCACCTTCCTCCTGCCAGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGGGTCTGC
TCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAAYGG
GCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTAYCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAG
GAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGAYAGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGC
GCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTA
CGAGATGGCCGACGACCCCGACRTCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGG
CAGGGCTACCGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGA
TGCTATAGCRCCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGA
TGGGCCTGGACTCTCCAGAAACTACTTGGGCCAGAGCAAAGGAAAACCTCTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTTTAGGGC
TTGGGGAGAGGGAGGACACATCTGGAGGAAATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTT
GGGCCCTAGCGGGACTCCAAGGCAGCCACAYGCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAA
ATAAGTATATATGGTGTATATTATATGTGTATAAATAAAGTCTGTACATATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATCTGGA

Protein Sequence    (SEQ ID NO:857):
MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAA
FSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSF
QPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVAS
FSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKRRQVCSPDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKL
NEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFNSNRGQLEISSLVPLGPKYVVKWN
TALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMRVK
EEEIHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLGAL
VHSPVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQDGS
ILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTLQP
QQSFEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPGQKHLCVTSLLICQGLLWVGTDQGVIVLLPVPRLEGIPKIT
GKGMVSLNGHCGPVAFLAVATSILAPDILRSDQEEAEGPRAEEDKPDGQAHEPMPDSHVGRELTRKKGILLQYRLRSTAHLPGPLLSMREPAPADGAALE
HSEEDGSIYEMADDPDIWVRSRPCARDAHRKEICSVAIISGGQGYRNFGSALGSSGRQAPCGETDSTLLIWQVPLML


SNP Information

Context             (SEQ ID NO:3659):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  3542
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1156, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1156, (D,GAT)   (D,GAC)      1156, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:3660):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  3910
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:857, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:857, None   



Context             (SEQ ID NO:3661):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  4231
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:857, None   



Context             (SEQ ID NO:3662):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  2087
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 671, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3663):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  3398
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1108, (N,AAC)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1108, (N,AAC)   (N,AAT)      1108, (N,AAT)   (N,AAC)      



Context             (SEQ ID NO:3664):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  2621
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 849, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3665):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  3436
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1121, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:3666):
GGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAATTCCAACAGGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  1829
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 585, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3667):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  2516
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 814, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3668):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCC
K
CCTCCACAGCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACA
Celera SNP ID:            hCV3155367
SNP Position Transcript:  92
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,6)   total(G,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 6, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3669):
TCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTACCGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCG
Y
CCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGTTCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCC
Celera SNP ID:            hCV25934640
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 356, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:3670):
CCTTCCTCGAGTTCCTCAAGCGACGGCAGGTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 466, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 466, (I,ATA)   (I,ATC)      466, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3671):
TGAGTTTGATGACAGTGATGATGAAGAGGACACCAGCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTG
R
ACTCCATCCCTGTCACTGACCCAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTC
Celera SNP ID:            hCV25934188
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,4|G,36)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 69, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3672):
GATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGATGAAGAGGACACCA
R
CGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGGACTCCATCCCTGTCACTGACCCAGACCCAGCAGCT
Celera SNP ID:            hCV25934554
SNP Position Transcript:  214
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,40)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 47, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3673):
TTGTCTGTGCCAACATCAACTTCAATTCCAACAGGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  1880
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 602, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3674):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  2828
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 918, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3675):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  2735
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 887, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:857, 887, (T,ACA)   (T,ACG)      887, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3676):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  3723
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1217, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1217, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:857, 1217, (I,ATC)   (V,GTC)      1217, (V,GTC)   (I,ATC)      



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT2253474 - 115000158384626
Public Transcript Accession: NM_018125
Celera Protein:              hCP1854975 - 197000069368109
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(667959..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:161):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCCKCCTCCACA
GCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGAT
GAAGAGGACACCARCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGRACTCCATCCCTGTCACTGACC
CAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTCCGGGGCCCGGCACTCCAGCTG
GAAGCGGAAGAGTTCCCGTCGCATTGACCGGTTCACTTTCCCCGCCCTGGAAGAGGATGTGATTTATGACGACGTCCCCTGCGAGAGCCCAGATGCGCAT
CAGCCCGGGGCAGAGAGGAACCTGCTCTACGAGGATGCGCACCGGGCTGGGGCCCCTCGGCAGGCGGAGGACCTAGGCTGGAGCTCCAGTGAGTTCGAGA
GCTACAGCGAGGACTCGGGGGAGGAGGCCAAGCCGGAGGTCGAGGTCGAGCCCGCCAAGCACCGAGTGTCCTTCCAGCCCAAGCTTTCTCCAGACCTGAC
TAGGCTAAAGGAGAGATACGCCAGGACTAAGAGAGACATCTTGGCTTTGAGAGTTGGGGGGAGAGACATGCAGGAGCTGAAGCACAAGTACGATTGTAAG
ATGACCCAGCTCATGAAGGCCGCCAAGAGCGGGACCAAGGATGGGCTGGAGAAGACACGGATGGCCGTGATGCGCAAAGTCTCCTTCCTGCACAGGAAGG
ACGTCCTCGGTGACTCGGAGGAGGAGGACATGGGGCTCCTGGAGGTCAGCGTTTCGGACATCAAGCCCCCAGCCCCAGAGCTGGGCCCCATGCCAGAGGG
CCTGAGCCCTCAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTAC
CGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCGYCCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGT
TCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCCACCGAGAAGATCGGGGACCTCTTCGTGGCCTCGTTTTCCAAGTCCATGGTGCTAGATGT
GTACAGTGACTACGTGAACAACTTCACCAGTGCCATGTCCATCATCAAGAAGGCCTGCCTCACCAAGCCTGCCTTCCTCGAGTTCCTCAAGCGACGGCAG
GTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACA
CCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCA
GGTGGCTGAGATCCAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACG
TTGACGGAGACCGTGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACT
TCAAGGGCCAGCTGGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCAGGTGGTGGAGGTGGG
CCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAGAATAAGGTGTACCTC
GGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGCTGCACGGCACCTACC
AGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGCCAACAAGTGCCGTCT
CAGGCTCCTGCTTCCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGCAAGATTTCCTGGGTC
AACAGGTTACATTTGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAGCCCCATTCTGGTGCC
CGATCCTGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTT
CTCAGCMGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCC
TCGCCCCGCACYGTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCC
CGACAGTTGCTGACCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCA
GTGCCTGGTGAGCTGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCT
GCTTACCCTCGGACCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCACCCTGTTGAGCCTGG
AGGATGCCGTGTGGGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCACCAGGACGAGGCAGT
GAGCGTGACACACATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAGACCCTGGAGCATCTG
CAAGAGATCAACATCGCCACCAGGACCACCTTCCTCCTGCCAGACAGGTCATTAATAAAATGTTCTCCAAGAGCCTGAGCTTTTTAAAGTTGTATATCTC
CAGATAGATGGCTTGGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGGGTCTGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGC
TGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAAYGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTAY
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
CCCGAYAGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCA
TGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGACRTCTGGGTGCGCAG
CCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAGCGCTCTGGGCAGC
AGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGCRCCTCCCCTCTCCCCTCAGAGGGCACA
GCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGACTCTCCAGAAACTACTTGGGCCAGAG
CAAAGGAAAACCTCTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTTTAGGGCTTGGGGAGAGGGAGGACACATCTGGAGGAAATGGCC
TTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACAYGCCCC
TCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTATAAAT
AAAGTCTGTACATATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATCTGGA

Protein Sequence    (SEQ ID NO:858):
MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAA
FSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSF
QPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVAS
FSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKRRQVCSPDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKL
NEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKGQLEISSLVPLGPKYVVKWNTAL
PQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMRVKEEE
IHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLGALVHS
PVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQDGSILL
YSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTLQPQQS
FEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPDRSLIKCSPRA


SNP Information

Context             (SEQ ID NO:3677):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  3606
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None   



Context             (SEQ ID NO:3678):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  3974
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None   



Context             (SEQ ID NO:3679):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  4295
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None   



Context             (SEQ ID NO:3680):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  2078
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 668, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3681):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  3462
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None   



Context             (SEQ ID NO:3682):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  2612
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 846, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3683):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  3500
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None



Context             (SEQ ID NO:3684):
GTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  1820
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 582, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3685):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  2507
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 811, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3686):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCC
K
CCTCCACAGCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACA
Celera SNP ID:            hCV3155367
SNP Position Transcript:  92
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,6)   total(G,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 6, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3687):
TCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTACCGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCG
Y
CCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGTTCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCC
Celera SNP ID:            hCV25934640
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:858, 356, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:3688):
CCTTCCTCGAGTTCCTCAAGCGACGGCAGGTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:858, 466, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:858, 466, (I,ATA)   (I,ATC)      466, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3689):
TGAGTTTGATGACAGTGATGATGAAGAGGACACCAGCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTG
R
ACTCCATCCCTGTCACTGACCCAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTC
Celera SNP ID:            hCV25934188
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,4|G,36)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:858, 69, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3690):
GATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGATGAAGAGGACACCA
R
CGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGGACTCCATCCCTGTCACTGACCCAGACCCAGCAGCT
Celera SNP ID:            hCV25934554
SNP Position Transcript:  214
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,40)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:858, 47, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3691):
ACGACATGCTTGTCTGTGCCAACATCAACTTCAAGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  1871
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 599, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3692):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  2819
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 915, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3693):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  2726
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 884, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:858, 884, (T,ACA)   (T,ACG)      884, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3694):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  3787
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:858, None   



Gene Number:                 72
Celera Gene:                 hCG1811869 - 115000158384507
Celera Transcript:           hCT2253470 - 115000158384659
Public Transcript Accession: NM_018125
Celera Protein:              hCP1854976 - 197000069368110
Public Protein Accession:    NP_060595
Gene Symbol:                 FLJ10521
Protein Name:                hypothetical protein FLJ10521
Celera Genomic Axis:         GA_x5YUV32W3P1(667959..826855)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:162):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCCKCCTCCACA
GCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGAT
GAAGAGGACACCARCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGRACTCCATCCCTGTCACTGACC
CAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTCCGGGGCCCGGCACTCCAGCTG
GAAGCGGAAGAGTTCCCGTCGCATTGACCGGTTCACTTTCCCCGCCCTGGAAGAGGATGTGATTTATGACGACGTCCCCTGCGAGAGCCCAGATGCGCAT
CAGCCCGGGGCAGAGAGGAACCTGCTCTACGAGGATGCGCACCGGGCTGGGGCCCCTCGGCAGGCGGAGGACCTAGGCTGGAGCTCCAGTGAGTTCGAGA
GCTACAGCGAGGACTCGGGGGAGGAGGCCAAGCCGGAGGTCGAGGTCGAGCCCGCCAAGCACCGAGTGTCCTTCCAGCCCAAGCTTTCTCCAGACCTGAC
TAGGCTAAAGGAGAGATACGCCAGGACTAAGAGAGACATCTTGGCTTTGAGAGTTGGGGGGAGAGACATGCAGGAGCTGAAGCACAAGTACGATTGTAAG
ATGACCCAGCTCATGAAGGCCGCCAAGAGCGGGACCAAGGATGGGCTGGAGAAGACACGGATGGCCGTGATGCGCAAAGTCTCCTTCCTGCACAGGAAGG
ACGTCCTCGGTGACTCGGAGGAGGAGGACATGGGGCTCCTGGAGGTCAGCGTTTCGGACATCAAGCCCCCAGCCCCAGAGCTGGGCCCCATGCCAGAGGG
CCTGAGCCCTCAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTAC
CGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCGYCCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGT
TCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCCACCGAGAAGATCGGGGACCTCTTCGTGGCCTCGTTTTCCAAGTCCATGGTGCTAGATGT
GTACAGTGACTACGTGAACAACTTCACCAGTGCCATGTCCATCATCAAGAAGGCCTGCCTCACCAAGCCTGCCTTCCTCGAGTTCCTCAAGCGACGGCAG
GTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCATMCTCCTGCTTCAGGACATGCTGAAGAACA
CCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGCTGAACGAGCAGAAGCGGCTGGCTGACCA
GGTGGCTGAGATCCAGCAGCTGACCAAGAGCGTCAGTGACCGCAGCAGCCTCAACAAGCTGTTGACCTCAGGCCAGCGGCAGCTGCTCCTGTGTGAGACG
TTGACGGAGACCGTGTACGGTGACCGCGGGCAGCTAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACT
TCAAGCCTGCCAACCACAGGGGCCAGCTGGAGATYAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCRCTGCCCCAGGTGCA
GGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCTCAGGGCAGGCTCAG
AATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCATYAGCACGC
TGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCCACTCGGC
CAACAAGTGCCGTCTCAGGCTCCTGCTTCCTGGGAAACCCGACAAGTCCGGCCGCCCCATTAGCTTCATGGTGGTTTTCATCACCCCCAACCCCCTGAGC
AAGATTTCCTGGGTCAACAGGTTACATTTGGCCAAAATCGGACTCCGGGAGGAGAACCAGCCAGGCTGGCTATGCCCGGATGAGGACAAGAAGAGCAAAG
CCCCATTCTGGTGCCCGATCCTGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTG
TCCCCTGCTGGGTTTCTCAGCMGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTT
TCCTTGAACCGGCCCTCGCCCCGCACYGTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGA
GCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCACRGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGT
GGACACTGGCACCCAGTGCCTGGTGAGCTGCAGRAGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAG
GATGGGACCCTTGCTGCTTACCCTCGGACCAGCGGAGGTGTCCTGTGGGACCTGGAGAGCCCTCCCGTGTGCCTGACTGTGGGGCCCGGGCCTGTCCGCA
CCCTGTTGAGCCTGGAGGATGCCGTGTGGGCCAGCTGTGGGCCCCGGGTCACTGTCCTGGAAGCCACCACCCTGCAGCCTCAGCAAAGCTTCGAGGCGCA
CCAGGACGAGGCAGTGAGCGTGACACACATGGTGAAGGCGGGCAGCGGCGTCTGGATGGCCTTCTCCTCCGGCACCTCCATCCGCCTCTTCCACACTGAG
ACCCTGGAGCATCTGCAAGAGATCAACATCGCCACCAGGACCACCTTCCTCCTGCCAGACAGGTCATTAATAAAATGTTCTCCAAGAGCCTGAGCTTTTT
AAAGTTGTATATCTCCAGATAGATGGCTTGGGCCAGAAGCACTTGTGTGTCACCAGCCTCCTGATCTGCCAGGGTCTGCTCTGGGTGGGCACTGACCAGG
GTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAAYGGGCACTGTGGGCCTGTGGCCTT
CCTGGCTGTGGCTAYCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAG
GCACACGAGCCCATGCCCGAYAGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGG
GCCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGA
CRTCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGC
AGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGCRCCTCCCCTCTC
CCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGACTCTCCAGAAA
CTACTTGGGCCAGAGCAAAGGAAAACCTCTTGTTTTAAAAAAATTTTTTTCAGAGTGTTTTGGGGAGGAGTTTTAGGGCTTGGGGAGAGGGAGGACACAT
CTGGAGGAAATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAG
GCAGCCACAYGCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATAT
TATATGTGTATAAATAAAGTCTGTACATATTGGAGCTCTGGGAGATGCTGGAATAAAAGACAAGAGTTACATCTGGA

Protein Sequence    (SEQ ID NO:859):
MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAA
FSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSF
QPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVAS
FSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKRRQVCSPDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKL
NEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKPANHRGQLEISSLVPLGPKYVVK
WNTALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMR
VKEEEIHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLG
ALVHSPVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQD
GSILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTL
QPQQSFEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPDRSLIKCSPRA


SNP Information

Context             (SEQ ID NO:3695):
TCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATGCCCGA
Y
AGCCACGTGGGCCGAGAGCTGACCCGCAAGAAGGGCATCCTCTTGCAGTACCGCCTGCGCTCCACCGCACACCTCCCGGGCCCGCTGCTCTCCATGCGGG
Celera SNP ID:            hCV15959147
SNP Position Transcript:  3621
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,7)   caucasian(C,34|T,6)   total(C,61|T,13)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,118|C,1371)   total(C,1371|T,118)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None   



Context             (SEQ ID NO:3696):
CGCAACTTTGGCAGCGCTCTGGGCAGCAGTGGGAGGCAGGCCCCGTGTGGGGAGACGGACAGCACCCTCCTCATCTGGCAGGTGCCCTTGATGCTATAGC
R
CCTCCCCTCTCCCCTCAGAGGGCACAGCTGCAGGCCTGACCAAGGCCACGCCCGGCTCTCGTGCTCTAGGACCTGCACGGGACTTGTGGATGGGCCTGGA
Celera SNP ID:            hCV1477190
SNP Position Transcript:  3989
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,5|G,35)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None   



Context             (SEQ ID NO:3697):
ATGGCCTTCTTTTTAAAAGCAAAAAACACAAAACCTCACAACTGCCTGGCAAGCCCAGTATCACTTGTTTGGGCCCTAGCGGGACTCCAAGGCAGCCACA
Y
GCCCCTCCTGGAAGGGTGTGTGCGTGTGAGTGTGTGCGAGTGTGTGGGCTGGTGTGTGAATATCTATAAATAAGTATATATGGTGTATATTATATGTGTA
Celera SNP ID:            hCV1477191
SNP Position Transcript:  4310
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None   



Context             (SEQ ID NO:3698):
AGGCTCAGAATAAGGTGTACCTCGGCCCCCCACGCCTCTTCCAGGAGCTGCAGGACCTGCAGAAGGACCTGGCCGTGGTGGAGCAGATCACGCTTCTCAT
Y
AGCACGCTGCACGGCACCTACCAGAACCTGAACATGACTGTGGCTCAAGACTGGTGCCTGGCCCTGCAGAGGCTGATGCGGGTGAAGGAGGAAGAGATCC
Celera SNP ID:            hCV25932084
SNP Position Transcript:  2093
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 673, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3699):
TGCTCTGGGTGGGCACTGACCAGGGTGTCATCGTCCTGCTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAA
Y
GGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTACCAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTG
Celera SNP ID:            hCV1477189
SNP Position Transcript:  3477
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,25)   caucasian(C,6|T,32)   total(C,15|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   JBIC-allele(C,236|T,1261)   total(C,236|T,1261)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None   



Context             (SEQ ID NO:3700):
GCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCCGCAC
Y
GTCAAGTCCTTCCCACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTG
Celera SNP ID:            hCV25933177
SNP Position Transcript:  2627
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 851, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:3701):
CTGCCCGTGCCTCGGCTGGAAGGCATCCCCAAGATCACAGGGAAAGGCATGGTCTCACTCAACGGGCACTGTGGGCCTGTGGCCTTCCTGGCTGTGGCTA
Y
CAGCATCCTGGCCCCTGACATCCTGCGGAGTGACCAGGAGGAGGCTGAGGGGCCCCGGGCTGAGGAGGACAAGCCAGACGGGCAGGCACACGAGCCCATG
Celera SNP ID:            hCV25936331
SNP Position Transcript:  3515
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None



Context             (SEQ ID NO:3702):
TAATTAAGTCCAAGGAGCGTCGGGTCTTCCTGCTCAACGACATGCTTGTCTGTGCCAACATCAACTTCAAGCCTGCCAACCACAGGGGCCAGCTGGAGAT
Y
AGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGCGCTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATG
Celera SNP ID:            hCV25997233
SNP Position Transcript:  1835
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,4)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 587, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:3703):
TGGCCTGCTGCATCCCTGCCTTCTCCTCCCGGGCACTCAGCCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGC
M
GTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTCGGGGGCGGACAGGAAGGCGCAGGGGGCCAGGTGGAAATCTTTTCCTTGAACCGGCCCTCGCCCC
Celera SNP ID:            hCV25996075
SNP Position Transcript:  2522
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,34|C,6)   total(A,64|C,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 816, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:3704):
ACAAAGGCGCGGGCCCGGGCAGCCGAGGTGGGTGTGTAGCTGGGACGGTGCTGGTCTGAGCTGGACCTTGTCTGATGGCTTCCTCCAACCC
K
CCTCCACAGCCTGCCATAGGAGATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACA
Celera SNP ID:            hCV3155367
SNP Position Transcript:  92
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,6)   total(G,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 6, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:3705):
TCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGACTACCGCAACCCCCTGATGGAGATGGAGCCCAAGGCGCTGAGCG
Y
CCGCAAGTGCCAGGTGGTGTTCTTCCGCGTGAAGGAGATCCTGCACTGCCACTCCATGTTCCAGATCGCCCTGTCCTCCCGCGTGGCTGAGTGGGATTCC
Celera SNP ID:            hCV25934640
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:859, 356, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:3706):
CCTTCCTCGAGTTCCTCAAGCGACGGCAGGTGTGCAGCCCAGACCGTGTCACCCTCTACGGGCTGATGGTCAAGCCCATCCAGAGGTTCCCACAGTTCAT
M
CTCCTGCTTCAGGACATGCTGAAGAACACCCCCAGGGGCCATCCGGACAGGCTGTCGCTGCAGCTGGCCCTCACAGAGCTGGAGACGCTGGCTGAGAAGC
Celera SNP ID:            hCV12008312
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:859, 466, (I,ATA)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:859, 466, (I,ATA)   (I,ATC)      466, (I,ATC)   (I,ATA)      



Context             (SEQ ID NO:3707):
TGAGTTTGATGACAGTGATGATGAAGAGGACACCAGCGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTG
R
ACTCCATCCCTGTCACTGACCCAGACCCAGCAGCTGCTCCACCCGGCACAGGGGTGCCAGCCTGGGTGAGCAATGGGGATGCAGCGGACGCAGCCTTCTC
Celera SNP ID:            hCV25934188
SNP Position Transcript:  279
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,4|G,36)   total(A,4|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:859, 69, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3708):
GATCAGCTGGTTCCAGGAGTCCCAGGCCCCTCCTCTGAGGCAGAGGACGACCCAGGAGAGGCGTTTGAGTTTGATGACAGTGATGATGAAGAGGACACCA
R
CGCAGCCCTGGGCGTCCCCAGCCTTGCTCCTGAGAGGGACACAGACCCCCCACTGATCCACTTGGACTCCATCCCTGTCACTGACCCAGACCCAGCAGCT
Celera SNP ID:            hCV25934554
SNP Position Transcript:  214
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,40)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:859, 47, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:3709):
GTGCCAACATCAACTTCAAGCCTGCCAACCACAGGGGCCAGCTGGAGATCAGCAGCCTGGTGCCCCTGGGGCCCAAGTATGTGGTGAAGTGGAACACGGC
R
CTGCCCCAGGTGCAGGTGGTGGAGGTGGGCCAGGACGGTGGCACCTATGACAAGGACAATGTGCTCATCCAGCACTCAGGCGCCAAGAAGGCCTCTGCCT
Celera SNP ID:            hCV25996605
SNP Position Transcript:  1886
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 604, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:3710):
CGGCCACGGTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAG
R
AGCCCAGGTCTGCAGCCTGTGCTCTGCCTGCGACACAGCCCCTTCCACCTGCTCGCTGGCCTGCAGGATGGGACCCTTGCTGCTTACCCTCGGACCAGCG
Celera SNP ID:            hCV16187875
SNP Position Transcript:  2834
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 920, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:3711):
CACTGGCAGCCCCTGTGCTCTGCATGGAGTATATCCCGGAGCTGGAGGAGGAGGCGGAGAGCAGAGACGAGAGCCCGACAGTTGCTGACCCCTCGGCCAC
R
GTGCATCCAACCATCTGCCTCGGGCTCCAGGATGGCAGCATCCTCCTCTACAGCAGTGTGGACACTGGCACCCAGTGCCTGGTGAGCTGCAGGAGCCCAG
Celera SNP ID:            hCV8860688
SNP Position Transcript:  2741
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,33)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 889, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;JBIG-allele(A,149|G,1352)   total(G,1352|A,149)no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:859, 889, (T,ACA)   (T,ACG)      889, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:3712):
CCCGCTGCTCTCCATGCGGGAGCCGGCGCCTGCTGATGGCGCAGCTTTGGAGCACAGCGAGGAGGACGGCTCCATTTACGAGATGGCCGACGACCCCGAC
R
TCTGGGTGCGCAGCCGGCCCTGCGCCCGCGACGCCCACCGCAAGGAGATTTGCTCTGTGGCCATCATCTCCGGCGGGCAGGGCTACCGCAACTTTGGCAG
Celera SNP ID:            hCV15959137
SNP Position Transcript:  3802
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,6|G,32)   total(A,13|G,57)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,6|G,34)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,76|G,671)   total(G,671|A,76)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:859, None   



Gene Number:                 73
Celera Gene:                 hCG1813420 - 30000053502463
Celera Transcript:           hCT2348172 - 30000053502497
Public Transcript Accession: NM_021180
Celera Protein:              hCP1913421 - 206000045507796
Public Protein Accession:    NP_067003
Gene Symbol:                 SOM
Protein Name:                sister-of-mammalian grainyhead;GRHL3;MGC46624
Celera Genomic Axis:         GA_x5YUV32W3P1(7449588..7485393)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:163):
TGAGTGAGTAAACATCGGTGGATACCTGCCGCTCTCAGAGCGTGGAGGCTGGATGGGGTTTCCTGGAGGGGGAAGAGCGGGGAGGCCGGCACCGGGATTC
ACAGAGCAATTTGTAAGGGTAAATGAATGGGCTGACGATCTTACTTTGGCGTGTCAAGGCAAGCCCCAGTCTCAAGCTAGAGTTTCAGGTCTGTGCGGCT
GCTAAAGAACGACCCAGTCAACTTGCAGAAATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAG
GCCATGATGAGAGTCAATGGAGATGATGASAGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCA
GCACTGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATT
CCTGACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCA
GCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGYGGACAGCTACCTGTTACCCACCACTGAYATGTATGATAATGGCTCCCTCAACTCCT
TGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGTCGATGCTCTTCCCAGATATCCT
GAAAACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCA
GGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGSAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAG
TCAAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCA
GCGGGTCATTGACGTGGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAAT
GAAGAGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTSCCCCTGAACCTGCAGATTGACACCT
ATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAGCTGAGAGGAAGATGCGCGATGACGA
GCGGAAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTAC
CTTCGGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGCAGCCCCCTCGGCAG
GACCCAGCAGCTCCAACAGGCTGCCTCTGAAGCGTACCTGCTCGCCCTTCACTGAGGAGTTTGAGCCTCTGCCCTCCAAGCAGGCCAAGGAAGGCGACCT
TCAGAGAGTTCTGCTGTATGTGCGGAGGGAGACTGAGGAGGTGTTTGACGCGCTCATGTTGAAGACCCCAGACCTGAAGGGGCTGAGGAATGCGATCTCT
GAGAAGTATGGGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGAATCTTAGTCAACATGGACAACAACATCATTCAGCATTACA
GCAACCACGTYGCCTTCCTGCTGGACATGGGGGAGCTGGACGGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCAC
GACCTGCAAGGGGCCAGCAGGGACGTGGCCCCACGCCACACACAACCTCTCCACATGCCTCAGCGCTGTTACTTGAATGCCTTCCCTGAGGGAAGAGGCC
CTTGAGTCACAGACCCACAGACGTCAGGGCCAGGGAGAGACCTAGGGGGTCCCCTGGCCTGGATCCCCATGGTATGCTTGAATCTGCTCCCTGAACTTCC
TGCCAGTGCCTCCCCGTACCCCAAAACAATGTCACCATGGTTACCACCTACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCC
TGCAGGCTGCCCGTTAAGATGGTGGCGGSACACGCTCCCTCCCGCAGCACCACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACA
AAGGATTTCTCAACCTTTGGTCAGTTAACTTGAAAACTCTTGATTTTCAGTGCAAATGACTTTTAAAAGACACTATATTGGAGTCTCTTTCTCAGACTTC
CTCAGCGCAGGATGTAAATAGCACTAACGATCGACTGGAACAAAGTGACCGCTGTGTAAAACTACTGCCTTGCCACTCACTGTTGTATACATTTCTTATT
TACGATTTTCATTTGTTATATATATATATAAATATAYTGTATATATATGCAACATTTTATATTTTTCATGGATATGTTTTTATCATTTCAAAAAATGTGT
ATTTCACATTTCTTGGACTTTTTTTAGCTGTTATTCAGTGATGCATTTTGTATACTCACGTGGTATTTAGTAATAAAAATCTATCTATGTATTACGTCAC
ATT

Protein Sequence    (SEQ ID NO:860):
MRVNGDDDSVAALSFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGMEYETDLTPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAP
LPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPDSTFKDDPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKAIHIKSGE
SPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFWKHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEE
AKVFIGVNCLSTDFSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQIKIFCDKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLR
PETDLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPFTEEFEPLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGLRNAISEK
YGFPEENIYKVYKKCKRGILVNMDNNIIQHYSNHVAFLLDMGELDGKIQIILKEL


SNP Information

Context             (SEQ ID NO:3713):
AATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAGGCCATGATGAGAGTCAATGGAGATGATGA
S
AGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCAGCACTGGGGGCAGGAATGACCAAGGAAAGA
Celera SNP ID:            hCV1921549
SNP Position Transcript:  330
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:860, 8, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:3714):
AGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGA
Y
ATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCAC
Celera SNP ID:            hCV25956289
SNP Position Transcript:  672
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,36)   total(C,2|T,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:860, 122, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3715):
ATGTCACCATGGTTACCACCTACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCCTGCAGGCTGCCCGTTAAGATGGTGGCGG
S
ACACGCTCCCTCCCGCAGCACCACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACAAAGGATTTCTCAACCTTTGGTCAGTTAAC
Celera SNP ID:            hCV2509611
SNP Position Transcript:  2329
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,8)   total(G,1|C,8) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:860, None   



Context             (SEQ ID NO:3716):
CTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTG
Y
GGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAG
Celera SNP ID:            hCV25956356
SNP Position Transcript:  644
SNP Source:               Applera
Population(Allele,Count): african american(T,28)   caucasian(C,2|T,34)   total(C,2|T,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:860, 113, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:3717):
GGAACAAAGTGACCGCTGTGTAAAACTACTGCCTTGCCACTCACTGTTGTATACATTTCTTATTTACGATTTTCATTTGTTATATATATATATAAATATA
Y
TGTATATATATGCAACATTTTATATTTTTCATGGATATGTTTTTATCATTTCAAAAAATGTGTATTTCACATTTCTTGGACTTTTTTTAGCTGTTATTCA
Celera SNP ID:            hCV26638305
SNP Position Transcript:  2637
SNP Source:               Celera
Population(Allele,Count): no_pop(C,6|T,9)   total(C,6|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:860, None   



Context             (SEQ ID NO:3718):
GGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGAATCTTAGTCAACATGGACAACAACATCATTCAGCATTACAGCAACCACGT
Y
GCCTTCCTGCTGGACATGGGGGAGCTGGACGGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCACGACCTGCAAGG
Celera SNP ID:            hCV25971092
SNP Position Transcript:  1911
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,8)   caucasian(C,25|T,11)   total(C,53|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:860, 535, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:3719):
CACTGTCCTTTGTGTGGAACGTGAATGAAGAGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGT
S
CCCCTGAACCTGCAGATTGACACCTATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAG
Celera SNP ID:            hCV25971305
SNP Position Transcript:  1275
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,31|G,5)   total(C,66|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:860, 323, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:3720):
ACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAG
S
AGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGG
Celera SNP ID:            hCV25967592
SNP Position Transcript:  965
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,32)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:860, 220, (A,GCA)   (G,GGA)   



Gene Number:                 73
Celera Gene:                 hCG1813420 - 30000053502463
Celera Transcript:           hCT1813422 - 30000053502499
Public Transcript Accession: NM_021180
Celera Protein:              hCP1768967 - 206000045507792
Public Protein Accession:    NP_067003
Gene Symbol:                 SOM
Protein Name:                sister-of-mammalian grainyhead;GRHL3;MGC46624
Celera Genomic Axis:         GA_x5YUV32W3P1(7449413..7494552)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:164):
CCAGCGCTGCTGGGAACCTACCTGTCAGCAAAATCTCGACACCCAAACCTCAACATAAATCAAACACTTTCCCGGGCAGAGAATGTCTGTGTCAGGCAAG
AATTAGAGACAAGCGGTCAGCAGAGCCTCAGTGCTGATCGTCGGAGCTTGGGAGCAGGAAGATGTCGAATGAACTTGATTTCAGGTCTGTGCGGCTGCTA
AAGAACGACCCAGTCAACTTGCAGAAATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCASAAAGGCCA
TGATGAGAGTCAATGGAGATGATGACAGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCAGCAC
TGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATTCCTG
ACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTC
CCCTCYCTGCAGGCCCCAGCAAGCTGGAGGCCGYCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTT
TGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGTCGATGCTCTTCCCAGATATCCTGAAA
ACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCG
AGTCACCCATGGCCTACCTCAACAAASGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAA
GAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCAGCGG
GTCATTGACGTGGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAG
AGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCASAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTCCCCCTGAACCTGCAGATTGACACCTATGA
CTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAGCTGAGAGGAAGATGCGCGATGACGAGCGG
AAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTACCTTC
GGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGCAGCCCCCTCGGCAGGACC
CAGCAGCTCCAACAGGCTGCCTCTGAAGCGTACCTGCTCGCCCTTCACTGAGGAGTTTGAGCCTCTGCCCTCCAAGCAGGCCAAGGAAGGCGACCTTCAG
AGAGTTCTGCTGTATGTGCGGAGGGAGACTGAGGAGGTGTTTGACGCGCTCATGTTGAAGACCCCAGACCTGAAGGGGCTGAGGAATGCGATCTCTGAGA
AGTATGGGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGGGAAACTTCTCTCCTCCACCCACGCCTGTCTCGCCACCCCCCACC
TGACTGTCTTWAATGTTCCCATCCTGTGACTCAAGTGAGGAACATGGGTTTTGGAGATGGATTTTGGAGGCAGAGGGACCTGGATTCAAATCCCAGCCCC
ACCACCGTCAACAGCCTGCACTTCACTGTAAACTCGGAATGACACACCCACCTGGAGGAGAGGTGGAAGGACGACGGCAGGTCACATCTGAGAGCTCTCA
GCTCAGAGTATGTGGCCCCTGAATACATTCTGGCTATTACTTTGCATTT

Protein Sequence    (SEQ ID NO:861):
MSNELDFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAALSFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGMEYETDL
TPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAPLPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPDSTFKD
DPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKAIHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFW
KHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTDFSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQIKIFC
DKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLRPETDLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPFTEEFE
PLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGLRNAISEKYGFPEENIYKVYKKCKRGETSLLHPRLSRHPPPDCLECSHPVTQVRNMGFGDG
FWRQRDLDSNPSPTTVNSLHFTVNSE


SNP Information

Context             (SEQ ID NO:3721):
CGGCTGCTAAAGAACGACCCAGTCAACTTGCAGAAATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCA
S
AAAGGCCATGATGAGAGTCAATGGAGATGATGACAGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCC
Celera SNP ID:            hCV1921549
SNP Position Transcript:  292
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:861, 55, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:3722):
GATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCG
Y
CTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGC
Celera SNP ID:            hCV25956289
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,36)   total(C,2|T,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:861, 169, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3723):
CCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGGGAAACTTCTCTCCTCCACCCACGCCTGTCTCGCCACCCCCCACCTGACTGTCTT
W
AATGTTCCCATCCTGTGACTCAAGTGAGGAACATGGGTTTTGGAGATGGATTTTGGAGGCAGAGGGACCTGGATTCAAATCCCAGCCCCACCACCGTCAA
Celera SNP ID:            hCV3124914
SNP Position Transcript:  1911
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,4)      total(A,2|T,4) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:861, 595, (K,AAG)   (M,ATG)      



Context             (SEQ ID NO:3724):
GAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTC
Y
CTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAG
Celera SNP ID:            hCV25956356
SNP Position Transcript:  606
SNP Source:               Applera
Population(Allele,Count): african american(T,28)   caucasian(C,2|T,34)   total(C,2|T,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:861, 160, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:3725):
ACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAGAGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCA
S
AGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTCCCCCTGAACCTGCAGATTGACACCTATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCT
Celera SNP ID:            hCV25971305
SNP Position Transcript:  1237
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,31|G,5)   total(C,66|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:861, 370, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:3726):
GGACTACCCCAGCCTCAAAAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAA
S
GCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAAGAGTGTGGTGATGGTTGTCTTCGACAA
Celera SNP ID:            hCV25967592
SNP Position Transcript:  927
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,32)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:861, 267, (A,GCA)   (G,GGA)   



Gene Number:                 73
Celera Gene:                 hCG1813420 - 30000053502463
Celera Transcript:           hCT2348170 - 30000053502472
Public Transcript Accession: NM_021180
Celera Protein:              hCP1913422 - 30000053502449
Public Protein Accession:    NP_067003
Gene Symbol:                 SOM
Protein Name:                sister-of-mammalian grainyhead;GRHL3;MGC46624
Celera Genomic Axis:         GA_x5YUV32W3P1(7449413..7485393)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:165):
CCAGCGCTGCTGGGAACCTACCTGTCAGCAAAATCTCGACACCCAAACCTCAACATAAATCAAACACTTTCCCGGGCAGAGAATGTCTGTGTCAGGCAAG
AATTAGAGACAAGCGGTCAGCAGAGCCTCAGTGCTGATCGTCGGAGCTTGGGAGCAGGAAGATGTCGAATGAACTTGATTTCAGGTCTGTGCGGCTGCTA
AAGAACGACCCAGTCAACTTGCAGAAATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAGGCCA
TGATGAGAGTCAATGGAGATGATGACAGTGTTGCGGCCTTGAGCTTCCTCTAYGATTACTACATGGGTCCCAAGGAGAAGYGGATATTGTCCTCCAGCAC
TGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATTCCTG
ACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTC
CCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTASGATAATGGCTCCCTCAACTCCTTGTT
TGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGTCGATGCTCTTCCCAGATATCCTGAAA
ACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCG
AGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTGSCCTCCAACAAAGTCAA
GAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCAGCGG
GTCATTGACGTGGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAG
AGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTCCCCCTGAACCTGCAGATTGACACCTATGA
CTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAGCTGAGAGGAAGATGCGCGATGACGAGCGG
AAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTACCTTC
GGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGCAGCCCCCTCGGCAGGACC
CAGCAGCTCCAACAGGCTGYCTCTGAAGCGTACCTGCTCGCCCTTCACTGAGGAGTTTGAGCCTCTGCCCTCCAAGCAGGCCAAGGAAGGCGACCTTCAG
AGAGTTCTGCTGTATGTGCGGAGGGAGACTGAGGAGGTGTTTGACGCGCTCATGTTGAAGACCCCAGACCTGAAGGGGCTGAGGAATGCGATCTCTGAGA
AGTATGGGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGAATCTTAGTCAACATGGACAACAACATCATTCAGCATTACAGCAA
CCACGTCGCCTTCCTGCTGGACATGGGGGAGCTGGACGGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCACGACC
TGCAAGGGGCCAGCAGGGACGTGGCCCCACGCCACACSCAACCTCTCCACATGCCTCAGCGCTGTTACTTGAATGCCTTCCCTGAGGGAAGAGGCCCTTG
AGTCACAGACCCACAGACGTCAGGGCCAGGGAGAGACCTAGGGGGTCCCCTGGCCTGGATCCCCATGGTATGCTTGAATCTGCTCCCTGAACTTCCTGCC
AGTGCCTCCCCGTACCCCAAAACAATGTCACCATGGTTACCACCTACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCCTGCA
GGCTGCCCGTTAAGATGGTGGCGGCACACGCTCCCTCCCGCAGCAYCACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACAAAGG
ATTTCTCAACCTTTGGTCAGTTAACTTGAAAACTCTTGATTTTCAGTGCAAATGACTTTTAAAAGACACTATATTGGAGTCTCTTTCTCAGACTTCCTCA
GCGCAGGATGTAAATAGCACTAACGATCGACTGGAACAAAGTGACCGCTGTGTAAAACTACTGCCTTGCCACTCACTGTTGTATACATTTCTTATTTACG
ATTTTCATTTGTTATATATATATATAAATATATTGTATATATATGCAACATTTTATATTTTTCATGGATATGTTTTTATCATTTCAAAAAATGTGTATTT
CACATTTCTTGGACTTTTTTTAGCTGTTATTCAGTGATGCATTTTGTATACTCACGTGGTATTTAGTAATAAAAATCTATCTATGTATTACGTCACATT

Protein Sequence    (SEQ ID NO:862):
MSNELDFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAALSFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGMEYETDL
TPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAPLPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPDSTFKD
DPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKAIHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFW
KHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTDFSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQIKIFC
DKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLRPETDLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPFTEEFE
PLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGLRNAISEKYGFPEENIYKVYKKCKRGILVNMDNNIIQHYSNHVAFLLDMGELDGKIQIILK
EL


SNP Information

Context             (SEQ ID NO:3727):
GACAGCTGCCACAAAGGCCATGATGAGAGTCAATGGAGATGATGACAGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAG
Y
GGATATTGTCCTCCAGCACTGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCAC
Celera SNP ID:            hCV25956289
SNP Position Transcript:  381
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,36)   total(C,2|T,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None



Context             (SEQ ID NO:3728):
GGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCACGACCTGCAAGGGGCCAGCAGGGACGTGGCCCCACGCCACAC
S
CAACCTCTCCACATGCCTCAGCGCTGTTACTTGAATGCCTTCCCTGAGGGAAGAGGCCCTTGAGTCACAGACCCACAGACGTCAGGGCCAGGGAGAGACC
Celera SNP ID:            hCV2509611
SNP Position Transcript:  2038
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,8)   total(G,1|C,8) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None   



Context             (SEQ ID NO:3729):
ACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCCTGCAGGCTGCCCGTTAAGATGGTGGCGGCACACGCTCCCTCCCGCAGCA
Y
CACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACAAAGGATTTCTCAACCTTTGGTCAGTTAACTTGAAAACTCTTGATTTTCAG
Celera SNP ID:            hCV26638305
SNP Position Transcript:  2346
SNP Source:               Celera
Population(Allele,Count): no_pop(C,6|T,9)   total(C,6|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None   



Context             (SEQ ID NO:3730):
CCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAGGCCATGATGAGAGTCAATGGAGATGATGACAGTGTTGCGGCCTTGAGCTTCCTCTA
Y
GATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCAGCACTGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGA
Celera SNP ID:            hCV25956356
SNP Position Transcript:  353
SNP Source:               Applera
Population(Allele,Count): african american(T,28)   caucasian(C,2|T,34)   total(C,2|T,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None



Context             (SEQ ID NO:3731):
GACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGCAGCCCCCTCGGCAGGACCCAGCAGCTCCAACAGGCTG
Y
CTCTGAAGCGTACCTGCTCGCCCTTCACTGAGGAGTTTGAGCCTCTGCCCTCCAAGCAGGCCAAGGAAGGCGACCTTCAGAGAGTTCTGCTGTATGTGCG
Celera SNP ID:            hCV25971092
SNP Position Transcript:  1620
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,8)   caucasian(C,25|T,11)   total(C,53|T,19)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None



Context             (SEQ ID NO:3732):
CCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTA
S
GATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGT
Celera SNP ID:            hCV25967592
SNP Position Transcript:  674
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,32)   total(C,69|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None



Context             (SEQ ID NO:3733):
CCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTG
S
CCTCCAACAAAGTCAAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACC
Celera SNP ID:            hCV25971305
SNP Position Transcript:  984
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,31|G,5)   total(C,66|G,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:862, None



Gene Number:                 73
Celera Gene:                 hCG1813420 - 30000053502463
Celera Transcript:           hCT2348171 - 30000053502464
Public Transcript Accession: NM_021180
Celera Protein:              hCP1913420 - 206000045507794
Public Protein Accession:    NP_067003
Gene Symbol:                 SOM
Protein Name:                sister-of-mammalian grainyhead;GRHL3;MGC46624
Celera Genomic Axis:         GA_x5YUV32W3P1(7453062..7485393)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:166):
AGGAGATGTGCCAAACTGTTAAGAGTGGTTATTTCTGAGCAGAAGAATGTGGATGAATTCCATTCTTCCTATTTTTCTTTTCAGGTCTGTGCGGCTGCTA
AAGAACGACCCAGTCAACTTGCAGAAATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAGGCCA
TGATGAGAGTCAATGGAGATGATGASAGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCAGCAC
TGGGGGCAGGAATGACCAAGGAAAGAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATTCCTG
ACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTC
CCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGYGGACAGCTACCTGTTACCCACCACTGAYATGTATGATAATGGCTCCCTCAACTCCTTGTT
TGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGTCGATGCTCTTCCCAGATATCCTGAAA
ACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCG
AGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGSAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAA
GAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCAGCGG
GTCATTGACGTGGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAG
AGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTSCCCCTGAACCTGCAGATTGACACCTATGA
CTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAGCTGAGAGGAAGATGCGCGATGACGAGCGG
AAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTACCTTC
GGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGCAGCCCCCTCGGCAGGACC
CAGCAGCTCCAACAGGCTGCCTCTGAAGCGTACCTGCTCGCCCTTCACTGAGGAGTTTGAGCCTCTGCCCTCCAAGCAGGCCAAGGAAGGCGACCTTCAG
AGAGTTCTGCTGTATGTGCGGAGGGAGACTGAGGAGGTGTTTGACGCGCTCATGTTGAAGACCCCAGACCTGAAGGGGCTGAGGAATGCGATCTCTGAGA
AGTATGGGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGAATCTTAGTCAACATGGACAACAACATCATTCAGCATTACAGCAA
CCACGTYGCCTTCCTGCTGGACATGGGGGAGCTGGACGGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCACGACC
TGCAAGGGGCCAGCAGGGACGTGGCCCCACGCCACACACAACCTCTCCACATGCCTCAGCGCTGTTACTTGAATGCCTTCCCTGAGGGAAGAGGCCCTTG
AGTCACAGACCCACAGACGTCAGGGCCAGGGAGAGACCTAGGGGGTCCCCTGGCCTGGATCCCCATGGTATGCTTGAATCTGCTCCCTGAACTTCCTGCC
AGTGCCTCCCCGTACCCCAAAACAATGTCACCATGGTTACCACCTACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCCTGCA
GGCTGCCCGTTAAGATGGTGGCGGSACACGCTCCCTCCCGCAGCACCACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACAAAGG
ATTTCTCAACCTTTGGTCAGTTAACTTGAAAACTCTTGATTTTCAGTGCAAATGACTTTTAAAAGACACTATATTGGAGTCTCTTTCTCAGACTTCCTCA
GCGCAGGATGTAAATAGCACTAACGATCGACTGGAACAAAGTGACCGCTGTGTAAAACTACTGCCTTGCCACTCACTGTTGTATACATTTCTTATTTACG
ATTTTCATTTGTTATATATATATATAAATATAYTGTATATATATGCAACATTTTATATTTTTCATGGATATGTTTTTATCATTTCAAAAAATGTGTATTT
CACATTTCTTGGACTTTTTTTAGCTGTTATTCAGTGATGCATTTTGTATACTCACGTGGTATTTAGTAATAAAAATCTATCTATGTATTACGTCACATT

Protein Sequence    (SEQ ID NO:863):
MWMNSILPIFLFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAALSFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGME
YETDLTPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAPLPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPD
STFKDDPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKAIHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVE
QLRFWKHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTDFSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQ
IKIFCDKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLRPETDLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPF
TEEFEPLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGLRNAISEKYGFPEENIYKVYKKCKRGILVNMDNNIIQHYSNHVAFLLDMGELDGKI
QIILKEL


SNP Information

Context             (SEQ ID NO:3734):
AATTCTCTTACACTAGTGAGGATGAGGCCTGGAAGACGTACCTAGAAAACCCGTTGACAGCTGCCACAAAGGCCATGATGAGAGTCAATGGAGATGATGA
S
AGTGTTGCGGCCTTGAGCTTCCTCTATGATTACTACATGGGTCCCAAGGAGAAGCGGATATTGTCCTCCAGCACTGGGGGCAGGAATGACCAAGGAAAGA
Celera SNP ID:            hCV1921549
SNP Position Transcript:  226
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:863, 60, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:3735):
AGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGA
Y
ATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCAC
Celera SNP ID:            hCV25956289
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,36)   total(C,2|T,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:863, 174, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:3736):
ATGTCACCATGGTTACCACCTACCCAGAAGACTGTTCCCTCCTCCCAAGACCCTTGTCTGCAGTGGTGCTCCTGCAGGCTGCCCGTTAAGATGGTGGCGG
S
ACACGCTCCCTCCCGCAGCACCACGCCAGCTGGTGCGGCCCCCACTCTCTGTCTTCCTTCAACTTCAGACAAAGGATTTCTCAACCTTTGGTCAGTTAAC
Celera SNP ID:            hCV2509611
SNP Position Transcript:  2225
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,8)   total(G,1|C,8) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:863, None   



Context             (SEQ ID NO:3737):
CTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTG
Y
GGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAG
Celera SNP ID:            hCV25956356
SNP Position Transcript:  540
SNP Source:               Applera
Population(Allele,Count): african american(T,28)   caucasian(C,2|T,34)   total(C,2|T,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:863, 165, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:3738):
GGAACAAAGTGACCGCTGTGTAAAACTACTGCCTTGCCACTCACTGTTGTATACATTTCTTATTTACGATTTTCATTTGTTATATATATATATAAATATA
Y
TGTATATATATGCAACATTTTATATTTTTCATGGATATGTTTTTATCATTTCAAAAAATGTGTATTTCACATTTCTTGGACTTTTTTTAGCTGTTATTCA
Celera SNP ID:            hCV26638305
SNP Position Transcript:  2533
SNP Source:               Celera
Population(Allele,Count): no_pop(C,6|T,9)   total(C,6|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:863, None   



Context             (SEQ ID NO:3739):
GGTTCCCTGAAGAGAACATTTACAAAGTCTACAAGAAATGCAAGCGAGGAATCTTAGTCAACATGGACAACAACATCATTCAGCATTACAGCAACCACGT
Y
GCCTTCCTGCTGGACATGGGGGAGCTGGACGGCAAAATTCAGATCATCCTTAAGGAGCTGTAAGGCCTCTCGAGCATCCAAACCCTCACGACCTGCAAGG
Celera SNP ID:            hCV25971092
SNP Position Transcript:  1807
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,8)   caucasian(C,25|T,11)   total(C,53|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:863, 587, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:3740):
CACTGTCCTTTGTGTGGAACGTGAATGAAGAGGCCAAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGT
S
CCCCTGAACCTGCAGATTGACACCTATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGGAG
Celera SNP ID:            hCV25971305
SNP Position Transcript:  1171
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,31|G,5)   total(C,66|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:863, 375, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:3741):
ACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAG
S
AGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGG
Celera SNP ID:            hCV25967592
SNP Position Transcript:  861
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,32)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:863, 272, (A,GCA)   (G,GGA)   



Gene Number:                 74
Celera Gene:                 hCG18159 - 104000117749260
Celera Transcript:           hCT1966347 - 104000117749267
Public Transcript Accession: NM_020183
Celera Protein:              hCP1781683 - 197000069408628
Public Protein Accession:    NP_064568
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x54KRFTF0F9(11882114..11998925)
Chromosome:                  Chr6
OMIM number:                 123900
OMIM Information:            VILLIN 2;VIL2


Transcript Sequence (SEQ ID NO:167):
CTGGTCTCTTCTCTTGAAGCAGATGCGAAGGCTCCCCGAATGAGAAAGAATACTCGGAATCAGCGGTGAATTGCAGTGATCTTTCAGAGAAAGCGCCTGT
TCAACTTTGTCCTCTCTCAGAGACTCAGAGCCTTGGGGCACTGAGGGATGCCAGTTCTGCCTGTTCATCTGGAACCTGGATCTAAGGAGGGAAGAGGCGT
TGCCCCTGCTGGCATAGTCAGGTACCAGCCCAGCCAGGTATTGAACGGGCTGAGCTTTTCATGATGGTTCCTGCTGACCTGGAAACATCTTAAATGGAAG
GTTAGCTTCTATGAGTCACTGATACTCTTTTTATTGCTATTTCTAAATTTCCTTGGCTTGAAAATTACTTCTGCTTTGCAGAAATTATCTGCTTGCAGCT
GTGGATAATTTATAACAATCTCTGGTGAAACCTCAGAAAAGAGATATGCTTTTRTCTTAGATGGATGTCAGCAGCTGCTGCAGAACCCGGTGAAAACACC
CCCCGGGTAGCACGAGGCTCTGCGAGCCGTAACTCCGACAAACGCAGAACTTCTTGAGGCTTTCTTCTTCTAAGGAGTATGACACAGTTAAAAAGGAAAA
AAGAACCACAAGCAAAACAGTTGCCAGTGAAATAGGAGAGGGAGCTCTTTAAACAAGGCYGGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAG
CGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAAYGAAAACGGAGAAGAAATGGCCCAAGAAATAGATCTGAGTGCTCTCAAGGAGTTAGAACG
CGAGGCCATTCTCCAGGTCCTGTACCGAGACCAGGCGGTTCAAAACACAGAGGAGGAGAGGACACGGAAACTGAAAACACACCTGCAGCATCTCCGGTGG
AAAGGAGCGAAGAACACGGACTGGGAGCACAAAGAGAAGTGCTGTGCGCGCTGCCAGCAGGTGCTGGGGTTCCTGCTGCACCGGGGCGCCGTGTGCCGGG
GCTGCAGCCACCGCGTGTGTGCCCAGTGCCGAGTGTTCCTGAGGGGGACCCATGCCTGGAAGTGCACGGTGTGCTTCGAGGACAGGAATGTCAAAATAAA
AACTGGAGAATGGTTCTATGAGGAACGAGCCAAGAAATTTCCAACTGGAGGCAAACATGAGACAGTTGGAGGGCAGCTCTTGCAATCTTATCAGAAGCTG
AGCAAAATTTCTGTGGTTCCTCCTACTCCACCTCCTGTCAGCGAGAGCCAGTGCAGCCGCAGTCCTGGCAGGTTACAGGAATTTGGTCAGTTTAGAGGAT
TTAATAAGTCCGTGGAAAATTTGTTTCTGTCTCTTGCTACCCACGTGAAAAAGCTCTCCAAATCCCAGAATGATATGACTTCTGAGAAGCATCTTCTCGC
CACGGGCCCCAGGCASTGTGTGGGACAGACAGAGAGACGGAGCCAGTCTGACACTGCGGTCAACGTCACCACCAGGAAGGTCAGTGCACCAGATATTCTG
AAACCTCTCAATCAAGAGGATCCCAAATGCTCTACTAACCCTATTTTGAAGCAACAGAATCTCCCATCCAGTCCGGCACCCAGTACCATATTCTCTGGAG
GTTTTAGACACGGAAGTTTAATTAGCATTGACAGCACCTGTACAGAGATGGGCAATTTTGACAATGCTAATGTCACTGGAGAAATAGAATTTGCCATTCA
TTATTGCTTCAAAACCCATTCTTTAGAAATATGCATCAAGGCCTGTAAGAACCTTGCCTATGGAGAAGAAAAGAAGAAAAAGTGCAATCCGTATGTGAAG
ACCTACCTGTTGCCCGACAGATCCTCCCAGGGAAAGCGCAAGACTGGAGTCCAAAGGAACACCGTGGACCCGACCTTTCAGGAGACCTTGAAGTATCAGG
TGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGCAGGTCTCGGTGTGGCATCTGGGCACGCTGGCCCRGAGAGTGTTTCTTGGAGAAGTGATCATTYCTCT
GGCCACGTGGGACTTTGAAGACAGCACAACACAGTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCGGAGAAATACGAAGACAGCGTTCCTCAGAGTAAT
GGAGAGCTCACAGTCCGGGCTAAGCTGGTTCTCCCTTCACGGCCCAGAAAACTCCAAGAGGCTCAAGAAGGGACARATCAGCCATCACTTCATGGTCAAC
TTTGTTTGGTAGTGCTAGGAGCCAAGAATTTACCTGTGCGGCCAGATGGCACCTTGAACTCATTTGTTAAGGGCTGTCTCACTCTGCCAGACCAACAAAA
ACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCCYAGTGGAAACACTCATTTGTCTTCAGTGGCRTAACCCCAGCTCAGCTGAGGCAGTCR
AGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAAYGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCG
GGGATGCATGCTCACWATCGAAGCTCCAGTGGCAGAAAGTCCTTTCCAGCCCCAATCTATGGACAGACATGACTCTTGTCCTGCACTGACATGAAGGCCT
CAAGGTTCCAGGTTGCAGCAGGCGTGAGGCACTGTGCGTCTGCAGAGGGGCTACGAACCAGGTGCAGGGTCCCAGCTGGAGACCCCTTTGACCTTGAGCA
GTCTCCATCTGCGGCCCTGTCCCATGGCTTAACCGCCTATTGGTATCTGTGTATATTTACGTTAAACACAATTATGTTACCTAAGCCTCTGGTGGGTTAT
CTCCTCTTTGAGATGTAGAAAATGGCCAGATTTTAATAAACGTTGTTACCCATGTCCTCCAGTGCTTATCAAATGAGGTAAAAGGCCGGCTGGTGGGCAT
GGTAACTCCCCCCTGTAATCCCAGCAACTTTGGGAGGCTGCAGTGGATGGCTTGAGCTCAGAAGTGTGAGATCAGCCCAGGCAACATAGATACCCTGTCT
ACAAAAAAACCAAAAAATTATCCAGGTGTGGTGGTACACACCTGTAGTCCCAGTTACTCAGGAGGCTGAACCGGGAGGATTGAGCCCAGGAGGTTGAGGC
TGCAGTAAGCCCCGATCATGCAACTGTGCTCCAGCCTGGGCCAAAGTAAGACCCTGTCTCAAGGCGGGGGGGGGAGTCACAGCTTCGCTGTGAGAAGCAC
TTTATTTTTTGAGACGGAGTCTCCCCGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCTAGCAATTCTCC
TGCCCCAGCCTCCCAAGTAGCTGGGATTATAGGTATGCACCACCACACCAGGCTAATTTTCGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGGCCAG
GATGGTCTCGATCTCCTGACCTCGTGATCCGACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGAGGAGCATTT
TAGAGGAGCCTGATGAGTGTTGGAGCAGTCTTTCTCTCCTGTGGAAACCATCTCGAGGAGGTTAGGTGACCCATGGAGCACCATGTCTTGGGTTGGTCAG
CTCCAACTTACCAGTGTACCCCCAGGGACACCACGGCCCCTCACRAAACCTGGCCAGAGGACAGCATAGAGCCCAGACGAGTCGGCGGTAGCCCTCCCAC
CCCACACACAAGCACACACCCGTGCTGCTTCGTGCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTG
AAGGARAAAGCAGTGCACGARAAGGAATGAGTGGGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTG
CAAACAAACACAAGCAAACAGAGTCTCTTCACAGCTGGAGTCTGAAAGCTCATAGTGGCATGTGTGAATCTGACAAAATTAAAAGTGTGCATAGTCCATT
ACATGCATAAAACACTAATAATAATCCTGTTTACACGTGACTGCAGCAGGCAGGTCCAGCTCCACCACTGCCCTCCTGCCACATCACATCAAGTGCCATG
GTTTAGAGGGTTTTTCATATGTAATTCTTTTATTCTGTAAAAGGTAACAAAATATACAGAACAAAACTTTCCCTTTTTAAAACTAATGTTACAAATCTGT
ATTATCACTTGTATATAAATAGTATATAGCTGATCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAARAACTAAAAA
AAWATCCAAGTGTCCTCCTCCACCACTCACGCTGGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTGTGTGCGAGA
GTGCTTCAGACTCAATTTCCAAAATAATTTTCACCCCTCTAAGCATGTAAATATACAAAGATGGATCCTTCATAGAAATTAAAAAATCAATTTGAGCTCA
TTTCGAATACAGAACAAGTATGGCACAGATGGAAGTCCTGCCACGTTTCCTTTAATGATGCTGACTCTTGTATCACACAGGCCAGCATGAAGTTTCTTAC
TCAGACTTTACAGGCATTTTCCGTAATTCAATCAGTCCTGCTCCCAGCACAACACAGGAGGTGATTCGAGAATAATCGCGAGAATCAGGCCTGCTTGGCA
CTATTACAACTGGGGAAAACAAACCAGGGCGCCTCCCTGGTTCCCAGCCCAGAATGTTTCTGYTGGGTAACTGCTTTCTAAAGGAACTGGGATCTGAGGG
AGTTCCTAGACTTGGAGCACTAA

Protein Sequence    (SEQ ID NO:864):
MAQEIDLSALKELEREAILQVLYRDQAVQNTEEERTRKLKTHLQHLRWKGAKNTDWEHKEKCCARCQQVLGFLLHRGAVCRGCSHRVCAQCRVFLRGTHA
WKCTVCFEDRNVKIKTGEWFYEERAKKFPTGGKHETVGGQLLQSYQKLSKISVVPPTPPPVSESQCSRSPGRLQEFGQFRGFNKSVENLFLSLATHVKKL
SKSQNDMTSEKHLLATGPRQCVGQTERRSQSDTAVNVTTRKVSAPDILKPLNQEDPKCSTNPILKQQNLPSSPAPSTIFSGGFRHGSLISIDSTCTEMGN
FDNANVTGEIEFAIHYCFKTHSLEICIKACKNLAYGEEKKKKCNPYVKTYLLPDRSSQGKRKTGVQRNTVDPTFQETLKYQVAPAQLVTRQLQVSVWHLG
TLARRVFLGEVIIPLATWDFEDSTTQSFRWHPLRAKAEKYEDSVPQSNGELTVRAKLVLPSRPRKLQEAQEGTDQPSLHGQLCLVVLGAKNLPVRPDGTL
NSFVKGCLTLPDQQKLRLKSPVLRKQACPQWKHSFVFSGVTPAQLRQSSLELTVWDQALFGMNDRLLGGTRLGSKGDTAVGGDACSQSKLQWQKVLSSPN
LWTDMTLVLH


SNP Information

Context             (SEQ ID NO:3742):
GACCCGACCTTTCAGGAGACCTTGAAGTATCAGGTGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGCAGGTCTCGGTGTGGCATCTGGGCACGCTGGCCC
R
GAGAGTGTTTCTTGGAGAAGTGATCATTCCTCTGGCCACGTGGGACTTTGAAGACAGCACAACACAGTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCG
Celera SNP ID:            hCV25932153
SNP Position Transcript:  1967
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,32)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 404, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:3743):
CTTTCTTCTTCTAAGGAGTATGACACAGTTAAAAAGGAAAAAAGAACCACAAGCAAAACAGTTGCCAGTGAAATAGGAGAGGGAGCTCTTTAAACAAGGC
Y
GGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAGCGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAACGAAAACGGAGAAGAAATGG
Celera SNP ID:            hCV27838241
SNP Position Transcript:  660
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:864, None



Context             (SEQ ID NO:3744):
AAACCATCTCGAGGAGGTTAGGTGACCCATGGAGCACCATGTCTTGGGTTGGTCAGCTCCAACTTACCAGTGTACCCCCAGGGACACCACGGCCCCTCAC
R
AAACCTGGCCAGAGGACAGCATAGAGCCCAGACGAGTCGGCGGTAGCCCTCCCACCCCACACACAAGCACACACCCGTGCTGCTTCGTGCCTTTGCAAAG
Celera SNP ID:            hCV8305416
SNP Position Transcript:  3645
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3745):
CGAAGACAGCGTTCCTCAGAGTAATGGAGAGCTCACAGTCCGGGCTAAGCTGGTTCTCCCTTCACGGCCCAGAAAACTCCAAGAGGCTCAAGAAGGGACA
R
ATCAGCCATCACTTCATGGTCAACTTTGTTTGGTAGTGCTAGGAGCCAAGAATTTACCTGTGCGGCCAGATGGCACCTTGAACTCATTTGTTAAGGGCTG
Celera SNP ID:            hCV25937391
SNP Position Transcript:  2176
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,36)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 474, (N,AAT)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 474, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:3746):
TGGCTTGAAAATTACTTCTGCTTTGCAGAAATTATCTGCTTGCAGCTGTGGATAATTTATAACAATCTCTGGTGAAACCTCAGAAAAGAGATATGCTTTT
R
TCTTAGATGGATGTCAGCAGCTGCTGCAGAACCCGGTGAAAACACCCCCCGGGTAGCACGAGGCTCTGCGAGCCGTAACTCCGACAAACGCAGAACTTCT
Celera SNP ID:            hCV27838242
SNP Position Transcript:  454
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:864, None



Context             (SEQ ID NO:3747):
AGATGGCACCTTGAACTCATTTGTTAAGGGCTGTCTCACTCTGCCAGACCAACAAAAACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCC
Y
AGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAA
Celera SNP ID:            hCV25940337
SNP Position Transcript:  2344
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 530, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:3748):
AAAATTTGTTTCTGTCTCTTGCTACCCACGTGAAAAAGCTCTCCAAATCCCAGAATGATATGACTTCTGAGAAGCATCTTCTCGCCACGGGCCCCAGGCA
S
TGTGTGGGACAGACAGAGAGACGGAGCCAGTCTGACACTGCGGTCAACGTCACCACCAGGAAGGTCAGTGCACCAGATATTCTGAAACCTCTCAATCAAG
Celera SNP ID:            hCV25943214
SNP Position Transcript:  1416
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,34)   caucasian(G,36)   total(C,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 220, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:3749):
AGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAA
Y
GACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCGGGGATGCATGCTCACAATCGAAGCTCCAGTGGCAGAAAGTCCTTT
Celera SNP ID:            hCV15965306
SNP Position Transcript:  2445
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,12)   caucasian(C,39|T,1)   total(C,61|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:864, 563, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:864, 563, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:3750):
AACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCCCAGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTC
R
AGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCG
Celera SNP ID:            hCV15965314
SNP Position Transcript:  2400
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(A,11|G,27)   total(A,16|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:864, 548, (S,TCA)   (S,TCG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,302|A,1185)   total(G,302|A,1185)   no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:864, 548, (S,TCA)   (S,TCG)      548, (S,TCG)   (S,TCA)      



Context             (SEQ ID NO:3751):
CTGTCTCACTCTGCCAGACCAACAAAAACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCCCAGTGGAAACACTCATTTGTCTTCAGTGGC
R
TAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGG
Celera SNP ID:            hCV15965315
SNP Position Transcript:  2374
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 540, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:3752):
GTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCGGGGATGCATGCTCAC
W
ATCGAAGCTCCAGTGGCAGAAAGTCCTTTCCAGCCCCAATCTATGGACAGACATGACTCTTGTCCTGCACTGACATGAAGGCCTCAAGGTTCCAGGTTGC
Celera SNP ID:            hCV25938779
SNP Position Transcript:  2516
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,15)   caucasian(A,28|T,12)   total(A,45|T,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 587, (Q,CAA)   (L,CTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 587, (Q,CAA)   (L,CTA)      



Context             (SEQ ID NO:3753):
GGAGCTCTTTAAACAAGGCTGGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAGCGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAA
Y
GAAAACGGAGAAGAAATGGCCCAAGAAATAGATCTGAGTGCTCTCAAGGAGTTAGAACGCGAGGCCATTCTCCAGGTCCTGTACCGAGACCAGGCGGTTC
Celera SNP ID:            hCV15965327
SNP Position Transcript:  741
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:864, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,124|C,1363)   total(C,1363|T,124) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3754):
GATTCGAGAATAATCGCGAGAATCAGGCCTGCTTGGCACTATTACAACTGGGGAAAACAAACCAGGGCGCCTCCCTGGTTCCCAGCCCAGAATGTTTCTG
Y
TGGGTAACTGCTTTCTAAAGGAACTGGGATCTGAGGGAGTTCCTAGACTTGGAGCACTAA
Celera SNP ID:            hCV8305411
SNP Position Transcript:  4763
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3755):
TATCACTTGTATATAAATAGTATATAGCTGATCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAAAAACTAAAAAAA
W
ATCCAAGTGTCCTCCTCCACCACTCACGCTGGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTGTGTGCGAGAGTG
Celera SNP ID:            hCV8305412
SNP Position Transcript:  4303
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3756):
TCAGGTGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGCAGGTCTCGGTGTGGCATCTGGGCACGCTGGCCCGGAGAGTGTTTCTTGGAGAAGTGATCATT
Y
CTCTGGCCACGTGGGACTTTGAAGACAGCACAACACAGTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCGGAGAAATACGAAGACAGCGTTCCTCAGAG
Celera SNP ID:            hCV8305420
SNP Position Transcript:  1996
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,10)   caucasian(C,20|T,12)   total(C,38|T,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 414, (P,CCT)   (S,TCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:864, 414, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:3757):
ACAAATCTGTATTATCACTTGTATATAAATAGTATATAGCTGATCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAA
R
AACTAAAAAAATATCCAAGTGTCCTCCTCCACCACTCACGCTGGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTG
Celera SNP ID:            hCV8305413
SNP Position Transcript:  4291
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3758):
CGTGCTGCTTCGTGCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTGAAGGAGAAAGCAGTGCACGA
R
AAGGAATGAGTGGGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTGCAAACAAACACAAGCAAACAG
Celera SNP ID:            hCV8305414
SNP Position Transcript:  3821
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Context             (SEQ ID NO:3759):
ACACAAGCACACACCCGTGCTGCTTCGTGCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTGAAGGA
R
AAAGCAGTGCACGAGAAGGAATGAGTGGGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTGCAAACA
Celera SNP ID:            hCV8305415
SNP Position Transcript:  3806
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:864, None   



Gene Number:                 74
Celera Gene:                 hCG18159 - 104000117749260
Celera Transcript:           hCT9214 - 104000117749308
Public Transcript Accession: NM_020183
Celera Protein:              hCP36209 - 197000069408630
Public Protein Accession:    NP_064568
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x54KRFTF0F9(11882114..11998925)
Chromosome:                  Chr6
OMIM number:                 123900
OMIM Information:            VILLIN 2;VIL2


Transcript Sequence (SEQ ID NO:168):
CTGGTCTCTTCTCTTGAAGCAGATGCGAAGGCTCCCCGAATGAGAAAGAATACTCGGAATCAGCGGTGAATTGCAGTGATCTTTCAGAGAAAGCGCCTGT
TCAACTTTGTCCTCTCTCAGAGACTCAGAGCCTTGGGGCACTGAGGGATGCCAGTTCTGCCTGTTCATCTGGAACCTGGATCTAAGGAGGGAAGAGGCGT
TGCCCCTGCTGGCATAGTCAGGTACCAGCCCAGCCAGGTATTGAACGGGCTGAGCTTTTCATGATGGTTCCTGCTGACCTGGAAACATCTTAAATGGAAG
AGATATGCTTTTRTCTTAGATGGATGTCAGCAGCTGCTGCAGAACCCGGTGAAAACACCCCCCGGGTAGCACGAGGCTCTGCGAGCCGTAACTCCGACAA
ACGCAGAACTTCTTGAGGCTTTCTTCTTCTAAGGAGTATGACACAGTTAAAAAGGAAAAAAGAACCACAAGCAAAACAGTTGCCAGTGAAATAGGAGAGG
GAGCTCTTTAAACAAGGCYGGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAGCGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAAY
GAAAACGGAGAAGAAATGGCCCAAGAAATAGATCTGAGTGCTCTCAAGGAGTTAGAACGCGAGGCCATTCTCCAGGTCCTGTACCGAGACCAGGCGGTTC
AAAACACAGAGGAGGAGAGGACACGGGCTGCAGGAAACTGAAAACACACCTGCAGCATCTCCGGTGGAAAGGAGCGAAGAACACGGACTGGGAGCACAAA
GAGAAGTGCTGTGCGCGCTGCCAGCAGGTGCTGGGGTTCCTGCTGCACCGGGGCGCCGTGTGCCGGGGCTGCAGCCACCGCGTGTGTGCCCAGTGCCGAG
TGTTCCTGAGGGGGACCCATGCCTGGAAGTGCACGGTGTGCTTCGAGGACAGGAATGTCAAAATAAAAACTGGAGAATGGTTCTATGAGGAACGAGCCAA
GAAATTTCCAACTGGAGGCAAACATGAGACAGTTGGAGGGCAGCTCTTGCAATCTTATCAGAAGCTGAGCAAAATTTCTGTGGTTCCTCCTACTCCACCT
CCTGTCAGCGAGAGCCAGTGCAGCCGCAGTCCTGGCAGGTTACAGGAATTTGGTCAGTTTAGAGGATTTAATAAGTCCGTGGAAAATTTGTTTCTGTCTC
TTGCTACCCACGTGAAAAAGCTCTCCAAATCCCAGAATGATATGACTTCTGAGAAGCATCTTCTCGCCACGGGCCCCAGGCASTGTGTGGGACAGACAGA
GAGACGGAGCCAGTCTGACACTGCGGTCAACGTCACCACCAGGAAGGTCAGTGCACCAGATATTCTGAAACCTCTCAATCAAGAGGATCCCAAATGCTCT
ACTAACCCTATTTTGAAGCAACAGAATCTCCCATCCAGTCCGGCACCCAGTACCATATTCTCTGGAGGTTTTAGACACGGAAGTTTAATTAGCATTGACA
GCACCTGTACAGAGATGGGCAATTTTGACAATGCTAATGTCACTGGAGAAATAGAATTTGCCATTCATTATTGCTTCAAAACCCATTCTTTAGAAATATG
CATCAAGGCCTGTAAGAACCTTGCCTATGGAGAAGAAAAGAAGAAAAAGTGCAATCCGTATGTGAAGACCTACCTGTTGCCCGACAGATCCTCCCAGGGA
AAGCGCAAGACTGGAGTCCAAAGGAACACCGTGGACCCGACCTTTCAGGAGACCTTGAAGTATCAGGTGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGC
AGGTCTCGGTGTGGCATCTGGGCACGCTGGCCCRGAGAGTGTTTCTTGGAGAAGTGATCATTYCTCTGGCCACGTGGGACTTTGAAGACAGCACAACACA
GTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCGGAGAAATACGAAGACAGCGTTCCTCAGAGTAATGGAGAGCTCACAGTCCGGGCTAAGCTGGTTCTC
CCTTCACGGCCCAGAAAACTCCAAGAGGCTCAAGAAGGGACARATCAGCCATCACTTCATGGTCAACTTTGTTTGGTAGTGCTAGGAGCCAAGAATTTAC
CTGTGCGGCCAGATGGCACCTTGAACTCATTTGTTAAGGGCTGTCTCACTCTGCCAGACCAACAAAAACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCA
GGCTTGCCCCYAGTGGAAACACTCATTTGTCTTCAGTGGCRTAACCCCAGCTCAGCTGAGGCAGTCRAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTC
TTTGGAATGAAYGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCGGGGATGCATGCTCACWATCGAAGCTCCAGTGGC
AGAAAGTCCTTTCCAGCCCCAATCTATGGACAGACATGACTCTTGTCCTGCACTGACATGAAGGCCTCAAGGTTCCAGGTTGCAGCAGGCGTGAGGCACT
GTGCGTCTGCAGAGGGGCTACGAACCAGGTGCAGGGTCCCAGCTGGAGACCCCTTTGACCTTGAGCAGTCTCCATCTGCGGCCCTGTCCCATGGCTTAAC
CGCCTATTGGTATCTGTGTATATTTACGTTAAACACAATTATGTTACCTAAGCCTCTGGTGGGTTATCTCCTCTTTGAGATGTAGAAAATGGCCAGATTT
TAATAAACGTTGTTACCCATGTCCTCCAGTGCTTATCAAATGAGGTAAAAGGCCGGCTGGTGGGCATGGTAACTCCCCCCTGTAATCCCAGCAACTTTGG
GAGGCTGCAGTGGATGGCTTGAGCTCAGAAGTGTGAGATCAGCCCAGGCAACATAGATACCCTGTCTACAAAAAAACCAAAAAATTATCCAGGTGTGGTG
GTACACACCTGTAGTCCCAGTTACTCAGGAGGCTGAACCGGGAGGATTGAGCCCAGGAGGTTGAGGCTGCAGTAAGCCCCGATCATGCAACTGTGCTCCA
GCCTGGGCCAAAGTAAGACCCTGTCTCAAGGCGGGGGGGGGAGTCACAGCTTCGCTGTGAGAAGCACTTTATTTTTTGAGACGGAGTCTCCCCGTCACCA
GGCTGGAGTGCAGTGGCACGATCTTGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCTAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTATAGG
TATGCACCACCACACCAGGCTAATTTTCGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGAC
CACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGAGGAGCATTTTAGAGGAGCCTGATGAGTGTTGGAGCAGTCTTT
CTCTCCTGTGGAAACCATCTCGAGGAGGTTAGGTGACCCATGGAGCACCATGTCTTGGGTTGGTCAGCTCCAACTTACCAGTGTACCCCCAGGGACACCA
CGGCCCCTCACRAAACCTGGCCAGAGGACAGCATAGAGCCCAGACGAGTCGGCGGTAGCCCTCCCACCCCACACACAAGCACACACCCGTGCTGCTTCGT
GCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTGAAGGARAAAGCAGTGCACGARAAGGAATGAGTG
GGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTGCAAACAAACACAAGCAAACAGAGTCTCTTCACA
GCTGGAGTCTGAAAGCTCATAGTGGCATGTGTGAATCTGACAAAATTAAAAGTGTGCATAGTCCATTACATGCATAAAACACTAATAATAATCCTGTTTA
CACGTGACTGCAGCAGGCAGGTCCAGCTCCACCACTGCCCTCCTGCCACATCACATCAAGTGCCATGGTTTAGAGGGTTTTTCATATGTAATTCTTTTAT
TCTGTAAAAGGTAACAAAATATACAGAACAAAACTTTCCCTTTTTAAAACTAATGTTACAAATCTGTATTATCACTTGTATATAAATAGTATATAGCTGA
TCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAARAACTAAAAAAAWATCCAAGTGTCCTCCTCCACCACTCACGCT
GGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTGTGTGCGAGAGTGCTTCAGACTCAATTTCCAAAATAATTTTCA
CCCCTCTAAGCATGTAAATATACAAAGATGGATCCTTCATAGAAATTAAAAAATCAATTTGAGCTCATTTCGAATACAGAACAAGTATGGCACAGATGGA
AGTCCTGCCACGTTTCCTTTAATGATGCTGACTCTTGTATCACACAGGCCAGCATGAAGTTTCTTACTCAGACTTTACAGGCATTTTCCGTAATTCAATC
AGTCCTGCTCCCAGCACAACACAGGAGGTGATTCGAGAATAATCGCGAGAATCAGGCCTGCTTGGCACTATTACAACTGGGGAAAACAAACCAGGGCGCC
TCCCTGGTTCCCAGCCCAGAATGTTTCTGYTGGGTAACTGCTTTCTAAAGGAACTGGGATCTGAGGGAGTTCCTAGACTTGGAGCACTAA

Protein Sequence    (SEQ ID NO:865):
MTSEKHLLATGPRQCVGQTERRSQSDTAVNVTTRKVSAPDILKPLNQEDPKCSTNPILKQQNLPSSPAPSTIFSGGFRHGSLISIDSTCTEMGNFDNANV
TGEIEFAIHYCFKTHSLEICIKACKNLAYGEEKKKKCNPYVKTYLLPDRSSQGKRKTGVQRNTVDPTFQETLKYQVAPAQLVTRQLQVSVWHLGTLARRV
FLGEVIIPLATWDFEDSTTQSFRWHPLRAKAEKYEDSVPQSNGELTVRAKLVLPSRPRKLQEAQEGTDQPSLHGQLCLVVLGAKNLPVRPDGTLNSFVKG
CLTLPDQQKLRLKSPVLRKQACPQWKHSFVFSGVTPAQLRQSSLELTVWDQALFGMNDRLLGGTRLGSKGDTAVGGDACSQSKLQWQKVLSSPNLWTDMT
LVLH


SNP Information

Context             (SEQ ID NO:3760):
GACCCGACCTTTCAGGAGACCTTGAAGTATCAGGTGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGCAGGTCTCGGTGTGGCATCTGGGCACGCTGGCCC
R
GAGAGTGTTTCTTGGAGAAGTGATCATTCCTCTGGCCACGTGGGACTTTGAAGACAGCACAACACAGTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCG
Celera SNP ID:            hCV25932153
SNP Position Transcript:  1834
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,32)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 198, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:3761):
CTTTCTTCTTCTAAGGAGTATGACACAGTTAAAAAGGAAAAAAGAACCACAAGCAAAACAGTTGCCAGTGAAATAGGAGAGGGAGCTCTTTAAACAAGGC
Y
GGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAGCGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAACGAAAACGGAGAAGAAATGG
Celera SNP ID:            hCV27838241
SNP Position Transcript:  519
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:865, None



Context             (SEQ ID NO:3762):
AAACCATCTCGAGGAGGTTAGGTGACCCATGGAGCACCATGTCTTGGGTTGGTCAGCTCCAACTTACCAGTGTACCCCCAGGGACACCACGGCCCCTCAC
R
AAACCTGGCCAGAGGACAGCATAGAGCCCAGACGAGTCGGCGGTAGCCCTCCCACCCCACACACAAGCACACACCCGTGCTGCTTCGTGCCTTTGCAAAG
Celera SNP ID:            hCV8305416
SNP Position Transcript:  3512
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3763):
CGAAGACAGCGTTCCTCAGAGTAATGGAGAGCTCACAGTCCGGGCTAAGCTGGTTCTCCCTTCACGGCCCAGAAAACTCCAAGAGGCTCAAGAAGGGACA
R
ATCAGCCATCACTTCATGGTCAACTTTGTTTGGTAGTGCTAGGAGCCAAGAATTTACCTGTGCGGCCAGATGGCACCTTGAACTCATTTGTTAAGGGCTG
Celera SNP ID:            hCV25937391
SNP Position Transcript:  2043
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,36)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 268, (N,AAT)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 268, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:3764):
CATAGTCAGGTACCAGCCCAGCCAGGTATTGAACGGGCTGAGCTTTTCATGATGGTTCCTGCTGACCTGGAAACATCTTAAATGGAAGAGATATGCTTTT
R
TCTTAGATGGATGTCAGCAGCTGCTGCAGAACCCGGTGAAAACACCCCCCGGGTAGCACGAGGCTCTGCGAGCCGTAACTCCGACAAACGCAGAACTTCT
Celera SNP ID:            hCV27838242
SNP Position Transcript:  313
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:865, None



Context             (SEQ ID NO:3765):
AGATGGCACCTTGAACTCATTTGTTAAGGGCTGTCTCACTCTGCCAGACCAACAAAAACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCC
Y
AGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAA
Celera SNP ID:            hCV25940337
SNP Position Transcript:  2211
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 324, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:3766):
AAAATTTGTTTCTGTCTCTTGCTACCCACGTGAAAAAGCTCTCCAAATCCCAGAATGATATGACTTCTGAGAAGCATCTTCTCGCCACGGGCCCCAGGCA
S
TGTGTGGGACAGACAGAGAGACGGAGCCAGTCTGACACTGCGGTCAACGTCACCACCAGGAAGGTCAGTGCACCAGATATTCTGAAACCTCTCAATCAAG
Celera SNP ID:            hCV25943214
SNP Position Transcript:  1283
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,34)   caucasian(G,36)   total(C,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 14, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:3767):
AGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAA
Y
GACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCGGGGATGCATGCTCACAATCGAAGCTCCAGTGGCAGAAAGTCCTTT
Celera SNP ID:            hCV15965306
SNP Position Transcript:  2312
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,12)   caucasian(C,39|T,1)   total(C,61|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:865, 357, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:865, 357, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:3768):
AACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCCCAGTGGAAACACTCATTTGTCTTCAGTGGCGTAACCCCAGCTCAGCTGAGGCAGTC
R
AGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCG
Celera SNP ID:            hCV15965314
SNP Position Transcript:  2267
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(A,11|G,27)   total(A,16|G,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:865, 342, (S,TCA)   (S,TCG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,302|A,1185)   total(G,302|A,1185)   no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:865, 342, (S,TCA)   (S,TCG)      342, (S,TCG)   (S,TCA)      



Context             (SEQ ID NO:3769):
CTGTCTCACTCTGCCAGACCAACAAAAACTGAGACTGAAGTCGCCAGTCCTGAGGAAGCAGGCTTGCCCCCAGTGGAAACACTCATTTGTCTTCAGTGGC
R
TAACCCCAGCTCAGCTGAGGCAGTCGAGCTTGGAGTTAACTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGG
Celera SNP ID:            hCV15965315
SNP Position Transcript:  2241
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 334, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:3770):
GTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCTTGGAGGAACCAGACTTGGTTCAAAGGGAGACACAGCTGTTGGCGGGGATGCATGCTCAC
W
ATCGAAGCTCCAGTGGCAGAAAGTCCTTTCCAGCCCCAATCTATGGACAGACATGACTCTTGTCCTGCACTGACATGAAGGCCTCAAGGTTCCAGGTTGC
Celera SNP ID:            hCV25938779
SNP Position Transcript:  2383
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,15)   caucasian(A,28|T,12)   total(A,45|T,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 381, (Q,CAA)   (L,CTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 381, (Q,CAA)   (L,CTA)      



Context             (SEQ ID NO:3771):
GGAGCTCTTTAAACAAGGCTGGCTGCAGCTGGCCTCCGCCGCTCATCTGCAGGGCGTGAGCGCTTGGTCCATGCAGTGAAGCTCTTCCAACCTGGGTCAA
Y
GAAAACGGAGAAGAAATGGCCCAAGAAATAGATCTGAGTGCTCTCAAGGAGTTAGAACGCGAGGCCATTCTCCAGGTCCTGTACCGAGACCAGGCGGTTC
Celera SNP ID:            hCV15965327
SNP Position Transcript:  600
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:865, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,124|C,1363)   total(C,1363|T,124) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3772):
GATTCGAGAATAATCGCGAGAATCAGGCCTGCTTGGCACTATTACAACTGGGGAAAACAAACCAGGGCGCCTCCCTGGTTCCCAGCCCAGAATGTTTCTG
Y
TGGGTAACTGCTTTCTAAAGGAACTGGGATCTGAGGGAGTTCCTAGACTTGGAGCACTAA
Celera SNP ID:            hCV8305411
SNP Position Transcript:  4630
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3773):
TATCACTTGTATATAAATAGTATATAGCTGATCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAAAAACTAAAAAAA
W
ATCCAAGTGTCCTCCTCCACCACTCACGCTGGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTGTGTGCGAGAGTG
Celera SNP ID:            hCV8305412
SNP Position Transcript:  4170
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3774):
TCAGGTGGCCCCTGCCCAGCTGGTGACCCGGCAGCTGCAGGTCTCGGTGTGGCATCTGGGCACGCTGGCCCGGAGAGTGTTTCTTGGAGAAGTGATCATT
Y
CTCTGGCCACGTGGGACTTTGAAGACAGCACAACACAGTCCTTCCGCTGGCATCCGCTCCGGGCCAAGGCGGAGAAATACGAAGACAGCGTTCCTCAGAG
Celera SNP ID:            hCV8305420
SNP Position Transcript:  1863
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,10)   caucasian(C,20|T,12)   total(C,38|T,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 208, (P,CCT)   (S,TCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:865, 208, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:3775):
ACAAATCTGTATTATCACTTGTATATAAATAGTATATAGCTGATCATTAATAAGGTGTATAAGTACAATGTATTCTAAAACTGTTAAGCCAAAAAAAAAA
R
AACTAAAAAAATATCCAAGTGTCCTCCTCCACCACTCACGCTGGTGATCACTGTGCTCTCTGCCAGCTGCGTGGAGTGACGGGAGGAGGGAATCACTGTG
Celera SNP ID:            hCV8305413
SNP Position Transcript:  4158
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3776):
CGTGCTGCTTCGTGCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTGAAGGAGAAAGCAGTGCACGA
R
AAGGAATGAGTGGGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTGCAAACAAACACAAGCAAACAG
Celera SNP ID:            hCV8305414
SNP Position Transcript:  3688
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Context             (SEQ ID NO:3777):
ACACAAGCACACACCCGTGCTGCTTCGTGCCTTTGCAAAGCTTTTATTTCATGTCTGCGGCATGGAATCCACCTGCACATGGCATCTTAGCTGTGAAGGA
R
AAAGCAGTGCACGAGAAGGAATGAGTGGGCGGAACCAACGGCCTCCACAAGCTGCCTTCCAGCAGCCTGCCAAGGCCATGGCAGAGAGAGACTGCAAACA
Celera SNP ID:            hCV8305415
SNP Position Transcript:  3673
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:865, None   



Gene Number:                 75
Celera Gene:                 hCG18160 - 206000038717822
Celera Transcript:           hCT1953591 - 206000038717818
Public Transcript Accession: NM_003379
Celera Protein:              hCP1766347 - 206000038717813
Public Protein Accession:    NP_003370
Gene Symbol:                 VIL2
Protein Name:                villin 2 (ezrin);CVIL;CVL;DKFZp762H157;EZRIN;MGC1584
Celera Genomic Axis:         GA_x54KRFTF0F9(11829728..11883209)
Chromosome:                  Chr6
OMIM number:                 123900
OMIM Information:            VILLIN 2;VIL2


Transcript Sequence (SEQ ID NO:169):
AGCGCACTCGGCGGACGCAAGGGCGGCGGGGAGCACACGGAGCACTGCAGGCGCCGGGTTGGGACAGCGTCTTCSCTGCTGCTGGATAGTCGTGTTTTCG
GGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCCMGCCAAATA
CAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTAC
CTGGCTGAAGCTGGATAAGAAGGTGTCTGCCCAGGAGGTCAGGAAGGAGAATCCCCTCCAGTTCAAGTTCCGGGCCAAGTTCTACCCTGAAGATGTGGCT
GAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGCYGTGC
TCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGT
GATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACACYGTGGGATGCTCAAAGATAATGCTATGTTGGAA
TACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGGAACAGACCTTTGGCTTGGAGTTGATGCCCTTG
GACTGAATATTTATGAGAAAGATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAGTGAAATCAGGAACATCTCTTTCAATGACAAAAAGTTTGTCAT
TAAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATCCTGCAGCTCTGCATGGGCAACCATGAGTTG
TATATGCGCCGCAGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGG
AAACAGAGAAGAAAAGGAGAGAAACCGTGGAGRGAGAGRRAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAA
GACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAGGCCGAGCGCCTAGAG
GCTGACCGTATGGCTGCACTGCGGGCTAAGGAGGAGCTGGAGAGACAGGCGGTGGATCAGATAAAGAGCCAGGAGCAGCTGGCTGCGGAGCTTGCAGAAT
ACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGCCAAAGAAGCCCAGGATGACCTGGT
GAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAGGAGAGCTTGCAG
GATGAGGGCSCAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAGGCAGAGAAGA
ACGAGCGTGTGCAGCGGCAGCTGCTGACGCTGAGCAGCGAGCTGTCCCAGGCCCGAGATGAGAATAAGAGGACCCACAATGACATCATCCACAACGAGAA
CATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCYAGGC
CAGGACCAAGGGYAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCC
TTTAGAAAGCAGTTACCCARCAGAAACATTCTGGGCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAAGCAGGCCTGATT
CTCGCGATTATTCTCGAATCACCTCCTGTGTTGTGCTGGGAGCAGGACTGATTGAATTACGGAAAATGCCTGTAAAGTCTGAGTAAGAAACTTCATGCTG
GCCTGTGTGATACAAGAGTCAGCATCATTAAAGGAAACGTGGCAGGACTTCCATCTGTGCCATACTTGTTCTGTATTCGAAATGAGCTCAAATTGATTTT
TTAATTTCTATGAAGGATCCATCTTTGTATATTTACATGCTTAGAGGGGTGAAAATTATTTTGGAAATTGAGTCTGAAGCACTCTCGCACACACAGTGAT
TCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATWTTTTTTTAGTTYTTTTTTTT
TTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATAATACAGATTTGTAACATTAG
TTTTAAAAAGGGAAAGTTTTGTTCTGTATATTTTGTTACCTTTTACAGAATAAAAGAATTACATATGAAAAACCCTCTAAACCATGGCACTTGATGTGAT
GTGGCAGGAGGGCAGTGGTGGAGCTGGACCTGCCTGCTGCAGTCACGTGTAAACAGGATTATTATTAGTGTTTTATGCATGTAATGGACTATGCACACTT
TTAATTTTGTCAGATTCACACATGCCACTATGAGCTTTCAGACTCCAGCTGTGAAGAGACTCTGTTTGCTTGTGTTTGTTTGCAGTCTCTCTCTGCCATG
GCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTYTCGTGCACTGCTTTYTCCTTCACAGCTAAGATGCCATG
TGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA

Protein Sequence    (SEQ ID NO:866):
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQK
LFFLQVKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEM
YGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTI
EVQQMKAQAREEKHQKQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYS
AELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNTKQRIDEFEAL


SNP Information

Context             (SEQ ID NO:3778):
CAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGA
R
AGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAG
Celera SNP ID:            hCV8305408
SNP Position Transcript:  1140
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 337, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:3779):
AGCGCACTCGGCGGACGCAAGGGCGGCGGGGAGCACACGGAGCACTGCAGGCGCCGGGTTGGGACAGCGTCTTC
S
CTGCTGCTGGATAGTCGTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAG
Celera SNP ID:            hCV25593116
SNP Position Transcript:  75
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,32)   total(C,3|G,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:866, None



Context             (SEQ ID NO:3780):
GTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCC
M
GCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGA
Celera SNP ID:            hCV25593125
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,1)   caucasian(A,36)   total(A,69|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 21, (Q,CAG)   (P,CCG)   



Context             (SEQ ID NO:3781):
ACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCAAGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGC
T
TGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGTTACCCAACAGAAACATTCTGGGCTGGGAACCAGGGAGGCGC
Celera SNP ID:            hCV27403666
SNP Position Transcript:  1954
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|-,9)   total(-,9|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3782):
TGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGC
Y
GTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAA
Celera SNP ID:            hCV25593128
SNP Position Transcript:  496
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:866, 122, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:3783):
GTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGTTACCCA
R
CAGAAACATTCTGGGCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAAGCAGGCCTGATTCTCGCGATTATTCTCGAATC
Celera SNP ID:            hCV8305411
SNP Position Transcript:  2020
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3784):
GGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAGGAGAGCTTGCAGGATGAGGGC
S
CAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAGGCAGAGAAGAACGAGCGTGT
Celera SNP ID:            hCV15852038
SNP Position Transcript:  1610
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,40)   total(C,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 494, (P,CCA)   (A,GCA)   



Context             (SEQ ID NO:3785):
CCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACAC
Y
GTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGG
Celera SNP ID:            hCV27455077
SNP Position Transcript:  668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 180, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:3786):
CACTCTCGCACACACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGAT
W
TTTTTTTAGTTTTTTTTTTTTTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATA
Celera SNP ID:            hCV8305412
SNP Position Transcript:  2480
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3787):
GAGAACATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGC
Y
AGGCCAGGACCAAGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAG
Celera SNP ID:            hCV15852048
SNP Position Transcript:  1896
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3788):
CACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATATTTTTTTAGTT
Y
TTTTTTTTTTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATAATACAGATTTGT
Celera SNP ID:            hCV8305413
SNP Position Transcript:  2492
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3789):
GGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAG
R
GAGAGAAAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCA
Celera SNP ID:            hCV8305406
SNP Position Transcript:  1133
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 335, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:3790):
CCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCAAGGG
Y
AGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGT
Celera SNP ID:            hCV15852049
SNP Position Transcript:  1913
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3791):
CTGTTTGCTTGTGTTTGTTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTT
Y
TCGTGCACTGCTTTCTCCTTCACAGCTAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA
Celera SNP ID:            hCV8305414
SNP Position Transcript:  2962
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Context             (SEQ ID NO:3792):
GCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAG
R
AAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCA
Celera SNP ID:            hCV8305407
SNP Position Transcript:  1139
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:866, 337, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:3793):
TGTTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTCTCGTGCACTGCTTT
Y
TCCTTCACAGCTAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA
Celera SNP ID:            hCV8305415
SNP Position Transcript:  2977
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:866, None   



Gene Number:                 75
Celera Gene:                 hCG18160 - 206000038717822
Celera Transcript:           hCT9215 - 206000038717823
Public Transcript Accession: NM_003379
Celera Protein:              hCP36199 - 206000038717816
Public Protein Accession:    NP_003370
Gene Symbol:                 VIL2
Protein Name:                villin 2 (ezrin);CVIL;CVL;DKFZp762H157;EZRIN;MGC1584
Celera Genomic Axis:         GA_x54KRFTF0F9(11830866..11883209)
Chromosome:                  Chr6
OMIM number:                 123900
OMIM Information:            VILLIN 2;VIL2


Transcript Sequence (SEQ ID NO:170):
GAGTGTCGGGCGCGGCAGGAGGACGAGGCAGGGCGGGCGGGCGCTCTAAGGGTTCTGCTCTGACTCCAGGTTGGGACAGCGTCTTCSCTGCTGCTGGATA
GTCGTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAA
TCCMGCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAA
AGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGTGTCTGCCCAGGAGGTCAGGAAGGAGAATCCCCTCCAGTTCAAGTTCCGGGCCAAGTTCTACCCT
GAAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTG
AGACTGCYGTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGAT
CCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACACYGTGGGATGCTCAAAGATAAT
GCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGGAACAGACCTTTGGCTTGGAG
TTGATGCCCTTGGACTGAATATTTATGAGAAAGATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAGTGAAATCAGGAACATCTCTTTCAATGACAA
AAAGTTTGTCATTAAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATCCTGCAGCTCTGCATGGGC
AACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGC
GGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGRGAGAGRRAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGA
CTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAGGCC
GAGCGCCTAGAGGCTGACCGTATGGCTGCACTGCGGGCTAAGGAGGAGCTGGAGAGACAGGCGGTGGATCAGATAAAGAGCCAGGAGCAGCTGGCTGCGG
AGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGCCAAAGAAGCCCA
GGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAG
GAGAGCTTGCAGGATGAGGGCSCAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTG
AGGCAGAGAAGAACGAGCGTGTGCAGCGGCAGCTGCTGACGCTGAGCAGCGAGCTGTCCCAGGCCCGAGATGAGAATAAGAGGACCCACAATGACATCAT
CCACAACGAGAACATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTG
TAACAGCYAGGCCAGGACCAAGGGYAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCA
GATCCCAGTTCCTTTAGAAAGCAGTTACCCARCAGAAACATTCTGGGCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAA
GCAGGCCTGATTCTCGCGATTATTCTCGAATCACCTCCTGTGTTGTGCTGGGAGCAGGACTGATTGAATTACGGAAAATGCCTGTAAAGTCTGAGTAAGA
AACTTCATGCTGGCCTGTGTGATACAAGAGTCAGCATCATTAAAGGAAACGTGGCAGGACTTCCATCTGTGCCATACTTGTTCTGTATTCGAAATGAGCT
CAAATTGATTTTTTAATTTCTATGAAGGATCCATCTTTGTATATTTACATGCTTAGAGGGGTGAAAATTATTTTGGAAATTGAGTCTGAAGCACTCTCGC
ACACACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATWTTTTTTTA
GTTYTTTTTTTTTTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATAATACAGAT
TTGTAACATTAGTTTTAAAAAGGGAAAGTTTTGTTCTGTATATTTTGTTACCTTTTACAGAATAAAAGAATTACATATGAAAAACCCTCTAAACCATGGC
ACTTGATGTGATGTGGCAGGAGGGCAGTGGTGGAGCTGGACCTGCCTGCTGCAGTCACGTGTAAACAGGATTATTATTAGTGTTTTATGCATGTAATGGA
CTATGCACACTTTTAATTTTGTCAGATTCACACATGCCACTATGAGCTTTCAGACTCCAGCTGTGAAGAGACTCTGTTTGCTTGTGTTTGTTTGCAGTCT
CTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTYTCGTGCACTGCTTTYTCCTTCACAGC
TAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA

Protein Sequence    (SEQ ID NO:867):
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQK
LFFLQVKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEM
YGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTI
EVQQMKAQAREEKHQKQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYS
AELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNTKQRIDEFEAL


SNP Information

Context             (SEQ ID NO:3794):
CAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGA
R
AGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAG
Celera SNP ID:            hCV8305408
SNP Position Transcript:  1152
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 337, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:3795):
GAGTGTCGGGCGCGGCAGGAGGACGAGGCAGGGCGGGCGGGCGCTCTAAGGGTTCTGCTCTGACTCCAGGTTGGGACAGCGTCTTC
S
CTGCTGCTGGATAGTCGTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAG
Celera SNP ID:            hCV25593116
SNP Position Transcript:  87
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,32)   total(C,3|G,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:867, None



Context             (SEQ ID NO:3796):
GTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCC
M
GCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGA
Celera SNP ID:            hCV25593125
SNP Position Transcript:  204
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,1)   caucasian(A,36)   total(A,69|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 21, (Q,CAG)   (P,CCG)   



Context             (SEQ ID NO:3797):
ACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCAAGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGC
T
TGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGTTACCCAACAGAAACATTCTGGGCTGGGAACCAGGGAGGCGC
Celera SNP ID:            hCV27403666
SNP Position Transcript:  1966
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|-,9)   total(-,9|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3798):
TGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGC
Y
GTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAA
Celera SNP ID:            hCV25593128
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:867, 122, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:3799):
GTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGTTACCCA
R
CAGAAACATTCTGGGCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAAGCAGGCCTGATTCTCGCGATTATTCTCGAATC
Celera SNP ID:            hCV8305411
SNP Position Transcript:  2032
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3800):
GGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAGGAGAGCTTGCAGGATGAGGGC
S
CAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAGGCAGAGAAGAACGAGCGTGT
Celera SNP ID:            hCV15852038
SNP Position Transcript:  1622
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,40)   total(C,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 494, (P,CCA)   (A,GCA)   



Context             (SEQ ID NO:3801):
CCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACAC
Y
GTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGG
Celera SNP ID:            hCV27455077
SNP Position Transcript:  680
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 180, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:3802):
CACTCTCGCACACACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGAT
W
TTTTTTTAGTTTTTTTTTTTTTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATA
Celera SNP ID:            hCV8305412
SNP Position Transcript:  2492
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3803):
GAGAACATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGC
Y
AGGCCAGGACCAAGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAG
Celera SNP ID:            hCV15852048
SNP Position Transcript:  1908
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3804):
CACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATATTTTTTTAGTT
Y
TTTTTTTTTTGGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATAATACAGATTTGT
Celera SNP ID:            hCV8305413
SNP Position Transcript:  2504
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3805):
GGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAG
R
GAGAGAAAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCA
Celera SNP ID:            hCV8305406
SNP Position Transcript:  1145
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 335, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:3806):
CCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCAAGGG
Y
AGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGT
Celera SNP ID:            hCV15852049
SNP Position Transcript:  1925
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3807):
CTGTTTGCTTGTGTTTGTTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTT
Y
TCGTGCACTGCTTTCTCCTTCACAGCTAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA
Celera SNP ID:            hCV8305414
SNP Position Transcript:  2974
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Context             (SEQ ID NO:3808):
GCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAG
R
AAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCA
Celera SNP ID:            hCV8305407
SNP Position Transcript:  1151
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:867, 337, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:3809):
TGTTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTCTCGTGCACTGCTTT
Y
TCCTTCACAGCTAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCACGAA
Celera SNP ID:            hCV8305415
SNP Position Transcript:  2989
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:867, None   



Gene Number:                 76
Celera Gene:                 hCG1818599 - 92000042679812
Celera Transcript:           hCT2284783 - 92000042679849
Public Transcript Accession: NM_004859
Celera Protein:              hCP1792709 - 197000064925350
Public Protein Accession:    NP_004850
Gene Symbol:                 CLTC
Protein Name:                clathrin, heavy polypeptide (Hc);CLTCL2;KIAA0034
Celera Genomic Axis:         GA_x5YUV32W3KM(3096939..3172064)
Chromosome:                  Chr17
OMIM number:                 118955
OMIM Information:            CLATHRIN, HEAVY POLYPEPTIDE;CLTC


Transcript Sequence (SEQ ID NO:171):
CAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCC
AGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCCCCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGC
CCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAGCTCCAGAACCTGGGTATCAA
CCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGAT
ATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGCTGGGAAAACTC
TTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCT
TGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATC
AATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAGCAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATA
GGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCG
GGGCCAAGCTGGAGGGAAGTTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCA
GAAGCACAAAATGATTTTCCTGTTGCAATGCAGATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTG
AGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAA
GGGACAAGTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGT
AATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCWTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCAC
CAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTCCCAGCCCAGCCAGGTCAAACTTCTCCTCTACTTCAGTACTTTGGTATCCT
TTTGGACCAGGGACAGCTCAACAAATACGAATCCTTAGAGCTTTGTAGGCCTGTACTTCAGCAAGGGCGAAAACAGCTTTTGGAGAAATGGTTAAAAGAA
GATAAGCTGGAATGTTCTGAAGAACTGGGTGATCTTGTGAAATCTGTGGACCCTACATTGGCACTTAGTGTGTACCTAAGGGCTAACGTCCCAAATAAAG
TCATTCAGTGCTTTGCAGAAACAGGTCAAGTCCAAAAGATTGTTTTATATGCTAAAAAAGTTGGATACACTCCAGATTGGATATTTCTGCTGAGAAATGT
AATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGATTGTAGATGTCTTTATG
GAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGA
ACCTTATGCATGCGCCTCAAGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGG
CCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGTGGTTAGTCAACTAC
TTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTA
AATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTT
TAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTAC
GATCCTGAGCGAGTCAAGAATTTTCTTAAGGAAGCAAAACTAACAGATCAGCTACCACTTATCATTGTGTGTGATCGATTTGACTTTGTCCATGATTTGG
TGCTCTATTTATATAGAAATAATCTTCAAAAGTATATAGAGATATATGTACAGAAGGTGAATCCAAGTCGACTTCCTGTAGTTATTGGAGGATTACTTGA
TGTTGACTGTTCTGAAGATGTCATAAAAAACTTGATTCTTGTTGTAAGAGGTCAATTCTCTACTGATGAGCTTGTTGCTGAGGTTGAAAAAAGAAACAGA
TTGAAACTGCTTCTGCCTTGGCTAGAGGCCAGAATTCATGAGGGCTGTGAGGAGCCTGCTACTCACAATGCCTTAGCCAAAATCTACATAGACAGTAATA
ACAACCCGGAGAGATTTCTTCGTGAAAATCCCTACTATGACAGTCGCGTTGTTGGAAAGTATTGTGAGAAGAGAGATCCACATCTGGCCTGTGTTGCTTA
TGAACGTGGCCAATGTGATCTGGAACTTATTAATGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAA
TTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAG
TGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACA
CAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGAT
ATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTCTTAATTGAGC
ATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGT
GAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGAAACTGGGAAGAACTGGTG
AAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAG
AATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGT
TTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAA
GAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCA
ACTACTATCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGC
TATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTGCTAAGAGCTGCAGAACAA
GCTCATCTTTGGGCAGAACTGGTGTTTTTGTATGACAAGTATGAAGAATATGATAATGCCATAATTACCATGATGAATCATCCAACTGATGCCTGGAAAG
AAGGGCAATTCAAAGATATCATTACCAAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGA
TTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTAYCACTGGTGAAACCGTATTTGCGTTCA
GTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGCTCTGCGAACATCAATAGATGCTTATG
ACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTG
GAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTG
CAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGATGTCGTCCTAGAAACTGCATGGA
GGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTTGATGCAATAAAGGAAAAGGTGGATAAATTAGA
TGCTTCAGAATCACTGAGAAAAGAAGAAGAACAAGCTACAGAGACACAACCCATTGTTTATGGTCAGCCCCAGTTGATGCTGACAGCAGGACCCAGTGTT
GCCGTCCCTCCCCAGGCACCTTTTGGTTATGGTTATACCGCACCACCGTATGGACAGCCACAGCCTGGCTTTGGGTACAGCATGTGAGATGAAGCGCTGA
TCCTGTAGTCACCTATTTTCGTACTGAAACATCGTCTTTACCCACTTCTCAGTTTATAATGGGGGAAAACAGGCAACGTGTTCTTGTAACCTTTATTTCA
TGAAGGACTTCTTTTTGTTTCTAACTATAAACTTGGATCACCTATGTTAAAACCTTATTTCACATTCCACATCATTTTAGAATTTATTTTCGAAGGGGAA
TAGTTTCAATGTTTTATTCACTTGGGCTTTTTTTCTTCCCCCTCTTTCTTTAAAGAACTGCTCAATATTCAATCTGTTGTGAAGAACCTGATTTGCACTC
TGTAGTGTTTAAAGAAACAAAGAAACTCTAATATTGAATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATC
TGTTTTATTCAAAGAAAAGCTAAAGCAAAAACACTGKCATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTG
GATTGCAGTGCTTCCCAGATTATTGAAAAATGTTACAGACAACTTGCCTGATTTTTAAATGAGCGTAAAAGGCCCTCTAACCTATGCAGGTTTCCCCATT
ATGCATATAGAAAATGCTAGTATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATT
CAGGAGCAAAGAGCMCCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCMCTGAGT
GTACAGAAGAGAGAAATTCAAACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACTGTGGAA
ATAACATAGAATTGAAGTTTTAATTAAATACCACTCAAACGCATGAAAGGAAGAGGAATGAGGATTGAGACATGTGAAGACATTGTGCATTATATCAATG
TGCATTCCTGTAGTTCATTAACAAGGTACATGCAATAGTCTAAARAACCAGAGTCACTACTATAGTGGCTTAACATTTAATCTGTCTCCAATATTTTAAC
CAAGTGACACCGAGGTTTTTA

Protein Sequence    (SEQ ID NO:868):
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMK
AHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAS
FAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRR
FQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQK
IVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIE
LFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYI
EIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADL
PNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAE
RCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELI
TMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVAN
VELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFI
QVMKEYLTKVDAIKEKVDKLDASESLRKEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM


SNP Information

Context             (SEQ ID NO:3810):
TTCCATTCAGGAGCAAAGAGCACCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATC
M
CTGAGTGTACAGAAGAGAGAAATTCAAACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACT
Celera SNP ID:            hCV8730954
SNP Position Transcript:  6094
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:868, None   



Context             (SEQ ID NO:3811):
GAAAGGAAGAGGAATGAGGATTGAGACATGTGAAGACATTGTGCATTATATCAATGTGCATTCCTGTAGTTCATTAACAAGGTACATGCAATAGTCTAAA
R
AACCAGAGTCACTACTATAGTGGCTTAACATTTAATCTGTCTCCAATATTTTAACCAAGTGACACCGAGGTTTTTA
Celera SNP ID:            hCV11420855
SNP Position Transcript:  6345
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:868, None   



Context             (SEQ ID NO:3812):
AATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATCTGTTTTATTCAAAGAAAAGCTAAAGCAAAAACACTG
K
CATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTGGATTGCAGTGCTTCCCAGATTATTGAAAAATGTTACA
Celera SNP ID:            hCV8730955
SNP Position Transcript:  5737
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:868, None   



Context             (SEQ ID NO:3813):
ATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTC
W
TTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTC
Celera SNP ID:            hCV8730974
SNP Position Transcript:  1350
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:868, 371, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:3814):
AGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTA
Y
CACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGC
Celera SNP ID:            hCV27537357
SNP Position Transcript:  4574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:868, 1446, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3815):
TGCTAGTATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATTCAGGAGCAAAGAGC
M
CCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCACTGAGTGTACAGAAGAGAGAA
Celera SNP ID:            hCV27469898
SNP Position Transcript:  6015
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:868, None   



Gene Number:                 76
Celera Gene:                 hCG1818599 - 92000042679812
Celera Transcript:           hCT1964255 - 92000042679813
Public Transcript Accession: NM_004859
Celera Protein:              hCP1779063 - 197000064925349
Public Protein Accession:    NP_004850
Gene Symbol:                 CLTC
Protein Name:                clathrin, heavy polypeptide (Hc);CLTCL2;KIAA0034
Celera Genomic Axis:         GA_x5YUV32W3KM(3095605..3172064)
Chromosome:                  Chr17
OMIM number:                 118955
OMIM Information:            CLATHRIN, HEAVY POLYPEPTIDE;CLTC


Transcript Sequence (SEQ ID NO:172):
CAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCC
AGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCCCCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGC
CCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAGCTCCAGAACCTGGGTATCAA
CCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGAT
ATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGCTGGGAAAACTC
TTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCT
TGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATC
AATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAGCAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATA
GGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCG
GGGCCAAGCTGGAGGGAAGTTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCA
GAAGCACAAAATGATTTTCCTGTTGCAATGCAGATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTG
AGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAA
GGGACAAGTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGT
AATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCWTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCAC
CAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTCCCAGCCCAGCCAGGTCAAACTTCTCCTCTACTTCAGTACTTTGGTATCCT
TTTGGACCAGGGACAGCTCAACAAATACGAATCCTTAGAGCTTTGTAGGCCTGTACTTCAGCAAGGGCGAAAACAGCTTTTGGAGAAATGGTTAAAAGAA
GATAAGCTGGAATGTTCTGAAGAACTGGGTGATCTTGTGAAATCTGTGGACCCTACATTGGCACTTAGTGTGTACCTAAGGGCTAACGTCCCAAATAAAG
TCATTCAGTGCTTTGCAGAAACAGGTCAAGTCCAAAAGATTGTTTTATATGCTAAAAAAGTTGGATACACTCCAGATTGGATATTTCTGCTGAGAAATGT
AATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGATTGTAGATGTCTTTATG
GAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGA
ACCTTATGCATGCGCCTCAAGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGG
CCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGTGGTTAGTCAACTAC
TTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTA
AATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTT
TAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTAC
GATCCTGAGCGAGTCAAGAATTTTCTTAAGGAAGCAAAACTAACAGATCAGCTACCACTTATCATTGTGTGTGATCGATTTGACTTTGTCCATGATTTGG
TGCTCTATTTATATAGAAATAATCTTCAAAAGTATATAGAGATATATGTACAGAAGGTGAATCCAAGTCGACTTCCTGTAGTTATTGGAGGATTACTTGA
TGTTGACTGTTCTGAAGATGTCATAAAAAACTTGATTCTTGTTGTAAGAGGTCAATTCTCTACTGATGAGCTTGTTGCTGAGGTTGAAAAAAGAAACAGA
TTGAAACTGCTTCTGCCTTGGCTAGAGGCCAGAATTCATGAGGGCTGTGAGGAGCCTGCTACTCACAATGCCTTAGCCAAAATCTACATAGACAGTAATA
ACAACCCGGAGAGATTTCTTCGTGAAAATCCCTACTATGACAGTCGCGTTGTTGGAAAGTATTGTGAGAAGAGAGATCCACATCTGGCCTGTGTTGCTTA
TGAACGTGGCCAATGTGATCTGGAACTTATTAATGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAA
TTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAG
TGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACA
CAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGAT
ATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTCTTAATTGAGC
ATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGT
GAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGAAACTGGGAAGAACTGGTG
AAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAG
AATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGT
TTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAA
GAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCA
ACTACTATCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGC
TATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTGCTAAGAGCTGCAGAACAA
GCTCATCTTTGGGCAGAACTGGTGTTTTTGTATGACAAGTATGAAGAATATGATAATGCCATAATTACCATGATGAATCATCCAACTGATGCCTGGAAAG
AAGGGCAATTCAAAGATATCATTACCAAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGA
TTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTAYCACTGGTGAAACCGTATTTGCGTTCA
GTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGCTCTGCGAACATCAATAGATGCTTATG
ACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTG
GAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTG
CAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGATGTCGTCCTAGAAACTGCATGGA
GGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTGGATAAATTAGATGCTTCAGAATCACTGAGAAA
AGAAGAAGAACAAGCTACAGAGACACAACCCATTGTTTATGGTCAGCCCCAGTTGATGCTGACAGCAGGACCCAGTGTTGCCGTCCCTCCCCAGGCACCT
TTTGGTTATGGTTATACCGCACCACCGTATGGACAGCCACAGCCTGGCTTTGGGTACAGCATGTGAGATGAAGCGCTGATCCTGTAGTCACCTATTTTCG
TACTGAAACATCGTCTTTACCCACTTCTCAGTTTATAATGGGGGAAAACAGGCAACGTGTTCTTGTAACCTTTATTTCATGAAGGACTTCTTTTTGTTTC
TAACTATAAACTTGGATCACCTATGTTAAAACCTTATTTCACATTCCACATCATTTTAGAATTTATTTTCGAAGGGGAATAGTTTCAATGTTTTATTCAC
TTGGGCTTTTTTTCTTCCCCCTCTTTCTTTAAAGAACTGCTCAATATTCAATCTGTTGTGAAGAACCTGATTTGCACTCTGTAGTGTTTAAAGAAACAAA
GAAACTCTAATATTGAATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATCTGTTTTATTCAAAGAAAAGCT
AAAGCAAAAACACTGKCATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTGGATTGCAGTGCTTCCCAGATT
ATTGAAAAATGTTACAGACAACTTGCCTGATTTTTAAATGAGCGTAAAAGGCCCTCTAACCTATGCAGGTTTCCCCATTATGCATATAGAAAATGCTAGT
ATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATTCAGGAGCAAAGAGCMCCATGA
TTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCMCTGAGTGTACAGAAGAGAGAAATTCAA
ACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACTGTGGAAATAACATAGAATTGAAGTTTT
AATTAAATACCACTCAAACGAAAAGAACAGTAGTTTTTGTAGTTTTATATTGGATACTGAGGCATTAGGGAGGCATGAAAGGAAGAGGAATGAGGATTGA
GACATGTGAAGACATTGTGCATTATATCAATGTGCATTCCTGTAGTTCATTAACAAGGTACATGCAATAGTCTAAARAACCAGAGTCACTACTATAGTGG
CTTAACATTTAATCTGTCTCCAATATTTTAACCAAGTGACACCGAGGTTTTTATCGAAGCATTTCACTTAAATGAACAAATCATGGCTGTTATATTAACT
TGAAATAAAATATATTTAAACATGTAGTTAACATGCTCTTTCTCATCATGAATTATAAAGGTGCCCAAATTATGGGTATCTTGATTTTTTTCAAAAATTG
GTTGTGTGAATCCAGCTCTTGCTTATGGCTGAGAATGTTCCTAAAGTTCATTTCACTATCCCTTAATCCTCAATAGCTACACATACCCCCTTGCCTAGTT
AGTCTTGCACTGCTTTACAACTCTCTTAGGCAAATTACCTAACATAAGCTCCACAGAAGAGTTTTTTAAAACTTAAAATCCCTGTCCCACCAGGTGTGGT
GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTGCTTGAGGCCAGGAGTTYGAGACAAGCCTGACCAACATGGTGACTCCATCT
CTACTAAAAATAAAAAATCAGCCAGGTGTGATGGTGGATGCCTATAAGATCCTAGCTGCTACTCAGGAGGCAGGAGGCTGAGGCATGAGAATCACTTGAA
CCTGTGAGGCAAAGGTTGTAGTGAGCCAAGATCACGTCACTGCACTCCATCCTGGGTGACAGAATGAGACTCTTGTCTCAAAAAACAAAAAAACCTATTT
AGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGT
TTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAAWTAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTG
GGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGA
ATTTTCATAGTATTCCTTTTAGTAGATATGCCATGACAGTTACTTAGCCACCCCATGCCATCCTGTTGGGAATGCCACTACCTTTGAATTTGGAGCCATC
AGTCTATCTGAGGCAAACCTCAGAAATTACCTGAGCCAGAATCATGCACTTAGCACTGAGTTCAACTCAGTCTTAACGTTGCATTTTGTTGCATCACTTT
TGCAGCCAGTAAACATTCTGTTTAGAAATAGTTGCTATTGTGGCATCATTCACAGTTGCAATTTTTCTCCTGTGCTGTCATATGCCTGTGCGAAGTGTAT
TAAATGAATCAAATATTAGAAATTTCAAGGCTGTCTTTAGTGTTCTGCCCACAATACTCCACCAATGACCTTAGACCTTGAGATGGT

Protein Sequence    (SEQ ID NO:869):
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMK
AHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAS
FAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRR
FQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQK
IVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIE
LFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYI
EIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADL
PNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAE
RCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELI
TMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVAN
VELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFI
QVMKEYLTKVDKLDASESLRKEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM


SNP Information

Context             (SEQ ID NO:3816):
AGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTA
Y
CACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGC
Celera SNP ID:            hCV27537357
SNP Position Transcript:  4574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:869, 1446, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3817):
TAAAACTTAAAATCCCTGTCCCACCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTGCTTGAGGCCAGGAGTT
Y
GAGACAAGCCTGACCAACATGGTGACTCCATCTCTACTAAAAATAAAAAATCAGCCAGGTGTGATGGTGGATGCCTATAAGATCCTAGCTGCTACTCAGG
Celera SNP ID:            hCV1550776
SNP Position Transcript:  6867
SNP Source:               Celera
Population(Allele,Count): no_pop(C,7|T,8)   total(C,7|T,8) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Context             (SEQ ID NO:3818):
TTCCATTCAGGAGCAAAGAGCACCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATC
M
CTGAGTGTACAGAAGAGAGAAATTCAAACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACT
Celera SNP ID:            hCV8730954
SNP Position Transcript:  6073
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Context             (SEQ ID NO:3819):
GAAAGGAAGAGGAATGAGGATTGAGACATGTGAAGACATTGTGCATTATATCAATGTGCATTCCTGTAGTTCATTAACAAGGTACATGCAATAGTCTAAA
R
AACCAGAGTCACTACTATAGTGGCTTAACATTTAATCTGTCTCCAATATTTTAACCAAGTGACACCGAGGTTTTTATCGAAGCATTTCACTTAAATGAAC
Celera SNP ID:            hCV11420855
SNP Position Transcript:  6377
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Context             (SEQ ID NO:3820):
AATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATCTGTTTTATTCAAAGAAAAGCTAAAGCAAAAACACTG
K
CATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTGGATTGCAGTGCTTCCCAGATTATTGAAAAATGTTACA
Celera SNP ID:            hCV8730955
SNP Position Transcript:  5716
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Context             (SEQ ID NO:3821):
ATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTC
W
TTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTC
Celera SNP ID:            hCV8730974
SNP Position Transcript:  1350
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:869, 371, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:3822):
TGCTAGTATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATTCAGGAGCAAAGAGC
M
CCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCACTGAGTGTACAGAAGAGAGAA
Celera SNP ID:            hCV27469898
SNP Position Transcript:  5994
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Context             (SEQ ID NO:3823):
ACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAA
W
TAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTA
Celera SNP ID:            hCV26023491
SNP Position Transcript:  7259
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|A,5|-,8)   total(A,5|-,8|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:869, None   



Gene Number:                 76
Celera Gene:                 hCG1818599 - 92000042679812
Celera Transcript:           hCT2284784 - 92000042679887
Public Transcript Accession: NM_004859
Celera Protein:              hCP1792710 - 197000064925351
Public Protein Accession:    NP_004850
Gene Symbol:                 CLTC
Protein Name:                clathrin, heavy polypeptide (Hc);CLTCL2;KIAA0034
Celera Genomic Axis:         GA_x5YUV32W3KM(3096939..3172064)
Chromosome:                  Chr17
OMIM number:                 118955
OMIM Information:            CLATHRIN, HEAVY POLYPEPTIDE;CLTC


Transcript Sequence (SEQ ID NO:173):
CAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCC
AGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCCCCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGC
CCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAGCTCCAGAACCTGGGTATCAA
CCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGAT
ATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGCTGGGAAAACTC
TTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCT
TGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATC
AATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAGCAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATA
GGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCG
GGGCCAAGCTGGAGGGAAGTTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCA
GAAGCACAAAATGATTTTCCTGTTGCAATGCAGATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTG
AGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAA
GGGACAAGTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGT
AATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCWTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCAC
CAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTCCCAGCCCAGCCAGGTCAAACTTCTCCTCTACTTCAGTACTTTGGTATCCT
TTTGGACCAGGGACAGCTCAACAAATACGAATCCTTAGAGCTTTGTAGGCCTGTACTTCAGCAAGGGCGAAAACAGCTTTTGGAGAAATGGTTAAAAGAA
GATAAGCTGGAATGTTCTGAAGAACTGGGTGATCTTGTGAAATCTGTGGACCCTACATTGGCACTTAGTGTGTACCTAAGGGCTAACGTCCCAAATAAAG
TCATTCAGTGCTTTGCAGAAACAGGTCAAGTCCAAAAGATTGTTTTATATGCTAAAAAAGTTGGATACACTCCAGATTGGATATTTCTGCTGAGAAATGT
AATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGATTGTAGATGTCTTTATG
GAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGA
ACCTTATGCATGCGCCTCAAGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGG
CCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGTGGTTAGTCAACTAC
TTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTA
AATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTT
TAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTAC
GATCCTGAGCGAGTCAAGAATTTTCTTAAGGAAGCAAAACTAACAGATCAGCTACCACTTATCATTGTGTGTGATCGATTTGACTTTGTCCATGATTTGG
TGCTCTATTTATATAGAAATAATCTTCAAAAGTATATAGAGATATATGTACAGAAGGTGAATCCAAGTCGACTTCCTGTAGTTATTGGAGGATTACTTGA
TGTTGACTGTTCTGAAGATGTCATAAAAAACTTGATTCTTGTTGTAAGAGGTCAATTCTCTACTGATGAGCTTGTTGCTGAGGTTGAAAAAAGAAACAGA
TTGAAACTGCTTCTGCCTTGGCTAGAGGCCAGAATTCATGAGGGCTGTGAGGAGCCTGCTACTCACAATGCCTTAGCCAAAATCTACATAGACAGTAATA
ACAACCCGGAGAGATTTCTTCGTGAAAATCCCTACTATGACAGTCGCGTTGTTGGAAAGTATTGTGAGAAGAGAGATCCACATCTGGCCTGTGTTGCTTA
TGAACGTGGCCAATGTGATCTGGAACTTATTAATGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAA
TTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAG
TGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACA
CAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGAT
ATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTCTTAATTGAGC
ATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGT
GAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGAAACTGGGAAGAACTGGTG
AAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAG
AATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGT
TTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAA
GAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCA
ACTACTATCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGC
TATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTGCTAAGAGCTGCAGAACAA
GCTCATCTTTGGGCAGAACTGGTGTTTTTGTATGACAAGTATGAAGAATATGATAATGCCATAATTACCATGATGAATCATCCAACTGATGCCTGGAAAG
AAGGGCAATTCAAAGATATCATTACCAAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGA
TTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTAYCACTGGTGAAACCGTATTTGCGTTCA
GTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGCTCTGCGAACATCAATAGATGCTTATG
ACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTG
GAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTG
CAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGATGTCGTCCTAGAAACTGCATGGA
GGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTGGATAAATTAGATGCTTCAGAATCACTGAGAAA
AGAAGAAGAACAAGCTACAGAGACACAACCCATTGTTTATGGTCAGCCCCAGTTGATGCTGACAGCAGGACCCAGTGTTGCCGTCCCTCCCCAGGCACCT
TTTGGTTATGGTTATACCGCACCACCGTATGGACAGCCACAGCCTGGCTTTGGGTACAGCATGTGAGATGAAGCGCTGATCCTGTAGTCACCTATTTTCG
TACTGAAACATCGTCTTTACCCACTTCTCAGTTTATAATGGGGGAAAACAGGCAACGTGTTCTTGTAACCTTTATTTCATGAAGGACTTCTTTTTGTTTC
TAACTATAAACTTGGATCACCTATGTTAAAACCTTATTTCACATTCCACATCATTTTAGAATTTATTTTCGAAGGGGAATAGTTTCAATGTTTTATTCAC
TTGGGCTTTTTTTCTTCCCCCTCTTTCTTTAAAGAACTGCTCAATATTCAATCTGTTGTGAAGAACCTGATTTGCACTCTGTAGTGTTTAAAGAAACAAA
GAAACTCTAATATTGAATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATCTGTTTTATTCAAAGAAAAGCT
AAAGCAAAAACACTGKCATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTGGATTGCAGTGCTTCCCAGATT
ATTGAAAAATGTTACAGACAACTTGCCTGATTTTTAAATGAGCGTAAAAGGCCCTCTAACCTATGCAGGTTTCCCCATTATGCATATAGAAAATGCTAGT
ATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATTCAGGAGCAAAGAGCMCCATGA
TTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCMCTGAGTGTACAGAAGAGAGAAATTCAA
ACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACTGTGGAAATAACATAGAATTGAAGTTTT
AATTAAATACCACTCAAACGCATGAAAGGAAGAGGAATGAGGATTGAGACATGTGAAGACATTGTGCATTATATCAATGTGCATTCCTGTAGTTCATTAA
CAAGGTACATGCAATAGTCTAAARAACCAGAGTCACTACTATAGTGGCTTAACATTTAATCTGTCTCCAATATTTTAACCAAGTGACACCGAGGTTTTTA

Protein Sequence    (SEQ ID NO:870):
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMK
AHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAS
FAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRR
FQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQK
IVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIE
LFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYI
EIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADL
PNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAE
RCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELI
TMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVAN
VELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFI
QVMKEYLTKVDKLDASESLRKEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM


SNP Information

Context             (SEQ ID NO:3824):
TTCCATTCAGGAGCAAAGAGCACCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATC
M
CTGAGTGTACAGAAGAGAGAAATTCAAACAAAATATTGCTGTTCTTCAGTTTTGTTTGTGGAATTTGAAATTACTCAAATTTAAAATAAATTACTGGACT
Celera SNP ID:            hCV8730954
SNP Position Transcript:  6073
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:870, None   



Context             (SEQ ID NO:3825):
GAAAGGAAGAGGAATGAGGATTGAGACATGTGAAGACATTGTGCATTATATCAATGTGCATTCCTGTAGTTCATTAACAAGGTACATGCAATAGTCTAAA
R
AACCAGAGTCACTACTATAGTGGCTTAACATTTAATCTGTCTCCAATATTTTAACCAAGTGACACCGAGGTTTTTA
Celera SNP ID:            hCV11420855
SNP Position Transcript:  6324
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:870, None   



Context             (SEQ ID NO:3826):
AATCTCTTAAATTTAGTGTATGTAAACAGCTTACAAATACGTATTGTCTAAATGCATTTAAATCTGTTTTATTCAAAGAAAAGCTAAAGCAAAAACACTG
K
CATATGACCATGCAAGACTGTCAGTGCCAACAAAGACAACACTAATCAGCACATCGTACACTGGATTGCAGTGCTTCCCAGATTATTGAAAAATGTTACA
Celera SNP ID:            hCV8730955
SNP Position Transcript:  5716
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:870, None   



Context             (SEQ ID NO:3827):
ATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTC
W
TTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTC
Celera SNP ID:            hCV8730974
SNP Position Transcript:  1350
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:870, 371, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:3828):
AGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTA
Y
CACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGC
Celera SNP ID:            hCV27537357
SNP Position Transcript:  4574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:870, 1446, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:3829):
TGCTAGTATGTTTTGCTCACTTCATATGTAACAGGTGCCCTTATGTTGTGCTGTATCCTGTGCTTTTTCTGTGGGACCATTCCATTCAGGAGCAAAGAGC
M
CCATGATTCCAATCTTGTGTGTGTTTACTAACCCTTCCCTGAGGTTTGTGTATGTTGGATATTGTGGTGTTTTAGATCACTGAGTGTACAGAAGAGAGAA
Celera SNP ID:            hCV27469898
SNP Position Transcript:  5994
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:870, None   



Gene Number:                 77
Celera Gene:                 hCG1818607 - 209000072028230
Celera Transcript:           hCT1964351 - 209000072028232
Public Transcript Accession: NM_152702
Celera Protein:              hCP1779088 - 209000072028189
Public Protein Accession:    NP_689915
Gene Symbol:                 FLJ35283
Protein Name:                hypothetical protein FLJ35283;ADAMTSR1;MGC40193
Celera Genomic Axis:         GA_x5YUV32VTY6(20061796..20311788)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:174):
TGCCTGCTCCGAGAGAGATTCCATTCAGCTTACCCCCCACCCATCCACCCACCCACCCCTCGGTCAGGAAATGTGAGAGGGGCTGATGGAAGCTGATAGG
CAGGACTGGAGTGTTAGCACCAGTACTGGATGTGACAGCAGGCAGAGGAGCACTTAGCAGCTTATTCAGTGTCCGATTCTGATTCCGGCAAGGATCCAAG
CATGGAATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGAC
GGCCTRTGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGWGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTG
AAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAGCAGGTGATTTCCGAGCTCAGCAATGCTCAGCTCATAATGATGTCAA
GCACCATGGCCAGTTTTATGAATGGCTTCCTGTGTCTAATGACCCTGACAACCCATGTTCACTCAAGTGCCAAGCCAAAGGAACAACCCTGGTTGTTGAA
CTAGCACCTAAGGTCTTAGATGGTACGCGTTGCTATACAGAATCTTTGGATATGTGCATCAGTGGTTTATGCCAAATTGTTGGCTGCGATCACCAGCTGG
GAAGCACCGTCAAGGAAGATAACTGTGGGGTCTGCAACGGAGATGGGTCCACCTGCCGGCTGGTCCGAGGGCAGTATAAATCCCAGCTCTCCGCAACCAA
ATCGGATGATACTGTGGTTGCAATTCCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAG
GGGACTAAAGGTGAAAACAGTCTCARCTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAA
TGGCTGGACCACTCACAGCAGATTTCATTGTCAAGATTCGTAACTCGGGCTCCGCTGACAGTACAGTCCAGTTCATCTTCTATCAACCCATCATCCACCG
ATGGAGGGAGACGGATTTCTTTCCTTGCTCAGCAACCTGTGGAGGAGGTTATCAGCTGACATCGGCTGAGTGCTACGATCTGAGGAGCAACCGTGTGGTT
GCTGACCAATACTGTCACTATTACCCAGAGAACATCAAACCCAAACCCAAGCTTCAGGAGTGCAACTTGGATCCTTGTCCAGCCAGTGACGGATACAAGC
AGATCATGCCTTATGACCTCTACCATCCCCTTCCTCGGTGGGAGGCCACCCCATGGACCGCGTGCTCCTCCTCGTGTGGGGGGGGCATCCAGAGCCGGGC
AGTTTCCTGTGTGGAGGAGGACATCCAGGGGCATGTCACTTCAGTGGAAGAGTGGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAAC
ATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGACRTGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATC
GAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGGAATGCATCGTACCCACTCCCTGCTATAAACCCAAAGAGAAACTTCC
AGTCGAGGCCAAGTTGCCATGGTTCAAACAAGCTCAAGAGCTAGAAGAAGGAGCTGCTGTGTCAGAGGAGCCCTCGTTCATCCCAGAGGCCTGGTCGGCC
TGCACAGTCACCTGTGGTGTGGGGACCCAGGTGCGAATAGTCAGGTGCCAGGTGCTCCTGTCTTTCTCTCAGTCCGTGGCTGACCTGCCTATTGACGAGT
GTGAAGGGCCCAAGCCAGCATCCCAGCGTGCCTGTTATGCAGGCCCATGCAGCGGGGAAATTCCTGAGTTCAACCCAGACGAGACAGATGGGCTCTTTGG
TGGCCTGCAGGATTTCGACGAGCTGTATGACTGGGAGTATGAGGGGTTCACCAAGTGCTCCGAGTCCTGTGGAGGAGGTGTCCAGGAGGCTGTGGTGAGC
TGCTTGAACAAACAGACTCGGGAGCCTGCTGAGGAGAACCTGTGCGTGACCAGCCGCCGGCCCCCACAGCTCCTGAAGTCCTGCAATTTGGATCCCTGCC
CAGCAAGAAGCAGTATCGACTCAGCATGGAACGCCTGCAACGTTCTTTGTTAGGCAACCAAGAGGCCTGGCTTCTCATCCTGCTGTCACCAACTAGCTCT
GTGGCCTAGGGCGAGGTGTCTGCCCTTTATGTTTCCACATCTGCAAAGTGAACTGGTTGTACCTGATGATCTGAGATCCCATGACTTGCTYACATGTCCC
ATGATTCTTTATTTTGTAGKCAGAAGCATTAAACAGCTACTCCTGCTGCTGTGT

Protein Sequence    (SEQ ID NO:871):
MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSECSRTCGGGASYSLRRCLSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVK
HHGQFYEWLPVSNDPDNPCSLKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCDHQLGSTVKEDNCGVCNGDGSTCRLVRGQYKSQLSATK
SDDTVVAIPYGSRHIRLVLKGPDHLYLETKTLQGTKGENSLSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRNSGSADSTVQFIFYQPIIHR
WRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHYYPENIKPKPKLQECNLDPCPASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSRA
VSCVEEDIQGHVTSVEEWKCMYTPKMPIAQPCNIFDCPKWLAQEWSPCTVTCGQGLRYRVVLCIDHRGMHTGGCSPKTKPHIKEECIVPTPCYKPKEKLP
VEAKLPWFKQAQELEEGAAVSEEPSFIPEAWSACTVTCGVGTQVRIVRCQVLLSFSQSVADLPIDECEGPKPASQRACYAGPCSGEIPEFNPDETDGLFG
GLQDFDELYDWEYEGFTKCSESCGGGVQEAVVSCLNKQTREPAEENLCVTSRRPPQLLKSCNLDPCPARSSIDSAWNACNVLC


SNP Information

Context             (SEQ ID NO:3830):
GGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAACATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGAC
R
TGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATCGAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGG
Celera SNP ID:            hCV11844151
SNP Position Transcript:  1554
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:871, 451, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:3831):
CCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAGGGGACTAAAGGTGAAAACAGTCTCA
R
CTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAATGGCTGGACCACTCACAGCAGATTTC
Celera SNP ID:            hCV8769759
SNP Position Transcript:  926
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,1|G,39)   total(A,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:871, 242, (N,AAC)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:871, 242, (S,AGC)   (N,AAC)      242, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3832):
AATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCT
R
TGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGTGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAA
Celera SNP ID:            hCV25960698
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,38)   total(A,72|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:871, 35, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:3833):
TCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCTATGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGG
W
GGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAG
Celera SNP ID:            hCV1440472
SNP Position Transcript:  354
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,11)   caucasian(A,22|T,14)   total(A,49|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:871, 51, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,6)      total(A,4|T,6) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:871, 51, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:3834):
CTGCCCTTTATGTTTCCACATCTGCAAAGTGAACTGGTTGTACCTGATGATCTGAGATCCCATGACTTGCTCACATGTCCCATGATTCTTTATTTTGTAG
K
CAGAAGCATTAAACAGCTACTCCTGCTGCTGTGT
Celera SNP ID:            hCV25958262
SNP Position Transcript:  2420
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,34)   total(G,67|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:871, None



Context             (SEQ ID NO:3835):
AACTAGCTCTGTGGCCTAGGGCGAGGTGTCTGCCCTTTATGTTTCCACATCTGCAAAGTGAACTGGTTGTACCTGATGATCTGAGATCCCATGACTTGCT
Y
ACATGTCCCATGATTCTTTATTTTGTAGGCAGAAGCATTAAACAGCTACTCCTGCTGCTGTGT
Celera SNP ID:            hCV25957719
SNP Position Transcript:  2391
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,33|T,1)   total(C,65|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:871, None



Gene Number:                 77
Celera Gene:                 hCG1818607 - 209000072028230
Celera Transcript:           hCT2302209 - 209000072028210
Public Transcript Accession: NM_152702
Celera Protein:              hCP1889213 - 209000072028195
Public Protein Accession:    NP_689915
Gene Symbol:                 FLJ35283
Protein Name:                hypothetical protein FLJ35283;ADAMTSR1;MGC40193
Celera Genomic Axis:         GA_x5YUV32VTY6(20100145..20311788)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:175):
TGCCTGCTCCGAGAGAGATTCCATTCAGCTTACCCCCCACCCATCCACCCACCCACCCCTCGGTCAGGAAATGTGAGAGGGGCTGATGGAAGCTGATAGG
CAGGACTGGAGTGTTAGCACCAGTACTGGATGTGACAGCAGGCAGAGGAGCACTTAGCAGCTTATTCAGTGTCCGATTCTGATTCCGGCAAGGATCCAAG
CATGGAATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGAC
GGCCTRTGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGWGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTG
AAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAGCAGGTGATTTCCGAGCTCAGCAATGCTCAGCTCATAATGATGTCAA
GCACCATGGCCAGTTTTATGAATGGCTTCCTGTGTCTAATGACCCTGACAACCCATGTTCACTCAAGTGCCAAGCCAAAGGAACAACCCTGGTTGTTGAA
CTAGCACCTAAGGTCTTAGATGGTACGCGTTGCTATACAGAATCTTTGGATATGTGCATCAGTGGTTTATGCCAAATTGTTGGCTGCGATCACCAGCTGG
GAAGCACCGTCAAGGAAGATAACTGTGGGGTCTGCAACGGAGATGGGTCCACCTGCCGGCTGGTCCGAGGGCAGTATAAATCCCAGCTCTCCGCAACCAA
ATCGGATGATACTGTGGTTGCAATTCCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAG
GGGACTAAAGGTGAAAACAGTCTCARCTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAA
TGGCTGGACCACTCACAGCAGATTTCATTGTCAAGATTCGTAACTCGGGCTCCGCTGACAGTACAGTCCAGTTCATCTTCTATCAACCCATCATCCACCG
ATGGAGGGAGACGGATTTCTTTCCTTGCTCAGCAACCTGTGGAGGAGGTTATCAGCTGACATCGGCTGAGTGCTACGATCTGAGGAGCAACCGTGTGGTT
GCTGACCAATACTGTCACTATTACCCAGAGAACATCAAACCCAAACCCAAGCTTCAGGAGTGCAACTTGGATCCTTGTCCAGCCAGTGACGGATACAAGC
AGATCATGCCTTATGACCTCTACCATCCCCTTCCTCGGTGGGAGGCCACCCCATGGACCGCGTGCTCCTCCTCGTGTGGGGGGGGCATCCAGAGCCGGGC
AGTTTCCTGTGTGGAGGAGGACATCCAGGGGCATGTCACTTCAGTGGAAGAGTGGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAAC
ATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGACRTGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATC
GAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGGAATGCATCGTACCCACTCCCTGCTATAAACCCAAAGAGAAACTTCC
AGTCGAGGCCAAGTTGCCATGGTTCAAACAAGCTCAAGAGCTAGAAGAAGGAGCTGCTGTGTCAGAGGAGCCCTCGTAAGTTGTAAAAGCACAGACTGTT
CTATATTKGAAACTGTTTTGTTTAAAGAAAGCAGTGTCTCACTGGTTGTAGCTTTCATGGGTTCTGAACTAAGTGTAATCATCTCACCAAAGCTTTTTGG
CTCTCAAATTAAAGATTGATTAGTTTCAAAAA

Protein Sequence    (SEQ ID NO:872):
MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSECSRTCGGGASYSLRRCLSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVK
HHGQFYEWLPVSNDPDNPCSLKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCDHQLGSTVKEDNCGVCNGDGSTCRLVRGQYKSQLSATK
SDDTVVAIPYGSRHIRLVLKGPDHLYLETKTLQGTKGENSLSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRNSGSADSTVQFIFYQPIIHR
WRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHYYPENIKPKPKLQECNLDPCPASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSRA
VSCVEEDIQGHVTSVEEWKCMYTPKMPIAQPCNIFDCPKWLAQEWSPCTVTCGQGLRYRVVLCIDHRGMHTGGCSPKTKPHIKEECIVPTPCYKPKEKLP
VEAKLPWFKQAQELEEGAAVSEEPS


SNP Information

Context             (SEQ ID NO:3836):
GGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAACATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGAC
R
TGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATCGAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGG
Celera SNP ID:            hCV11844151
SNP Position Transcript:  1554
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:872, 451, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:3837):
CCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAGGGGACTAAAGGTGAAAACAGTCTCA
R
CTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAATGGCTGGACCACTCACAGCAGATTTC
Celera SNP ID:            hCV8769759
SNP Position Transcript:  926
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,1|G,39)   total(A,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:872, 242, (N,AAC)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:872, 242, (S,AGC)   (N,AAC)      242, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3838):
AATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCT
R
TGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGTGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAA
Celera SNP ID:            hCV25960698
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,38)   total(A,72|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:872, 35, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:3839):
TCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCTATGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGG
W
GGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAG
Celera SNP ID:            hCV1440472
SNP Position Transcript:  354
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,11)   caucasian(A,22|T,14)   total(A,49|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:872, 51, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,6)      total(A,4|T,6) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:872, 51, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:3840):
GCCAAGTTGCCATGGTTCAAACAAGCTCAAGAGCTAGAAGAAGGAGCTGCTGTGTCAGAGGAGCCCTCGTAAGTTGTAAAAGCACAGACTGTTCTATATT
K
GAAACTGTTTTGTTTAAAGAAAGCAGTGTCTCACTGGTTGTAGCTTTCATGGGTTCTGAACTAAGTGTAATCATCTCACCAAAGCTTTTTGGCTCTCAAA
Celera SNP ID:            hCV15893049
SNP Position Transcript:  1808
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:872, None   



Gene Number:                 77
Celera Gene:                 hCG1818607 - 209000072028230
Celera Transcript:           hCT2302210 - 209000072028283
Public Transcript Accession: NM_152702
Celera Protein:              hCP1889215 - 209000072028190
Public Protein Accession:    NP_689915
Gene Symbol:                 FLJ35283
Protein Name:                hypothetical protein FLJ35283;ADAMTSR1;MGC40193
Celera Genomic Axis:         GA_x5YUV32VTY6(19875033..20311788)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:176):
TGCCTGCTCCGAGAGAGATTCCATTCAGCTTACCCCCCACCCATCCACCCACCCACCCCTCGGTCAGGAAATGTGAGAGGGGCTGATGGAAGCTGATAGG
CAGGACTGGAGTGTTAGCACCAGTACTGGATGTGACAGCAGGCAGAGGAGCACTTAGCAGCTTATTCAGTGTCCGATTCTGATTCCGGCAAGGATCCAAG
CATGGAATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGAC
GGCCTRTGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGWGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTG
AAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAGCAGGTGATTTCCGAGCTCAGCAATGCTCAGCTCATAATGATGTCAA
GCACCATGGCCAGTTTTATGAATGGCTTCCTGTGTCTAATGACCCTGACAACCCATGTTCACTCAAGTGCCAAGCCAAAGGAACAACCCTGGTTGTTGAA
CTAGCACCTAAGGTCTTAGATGGTACGCGTTGCTATACAGAATCTTTGGATATGTGCATCAGTGGTTTATGCCAAATTGTTGGCTGCGATCACCAGCTGG
GAAGCACCGTCAAGGAAGATAACTGTGGGGTCTGCAACGGAGATGGGTCCACCTGCCGGCTGGTCCGAGGGCAGTATAAATCCCAGCTCTCCGCAACCAA
ATCGGATGATACTGTGGTTGCAATTCCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAG
GGGACTAAAGGTGAAAACAGTCTCARCTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAA
TGGCTGGACCACTCACAGCAGATTTCATTGTCAAGATTCGTAACTCGGGCTCCGCTGACAGTACAGTCCAGTTCATCTTCTATCAACCCATCATCCACCG
ATGGAGGGAGACGGATTTCTTTCCTTGCTCAGCAACCTGTGGAGGAGGTTATCAGCTGACATCGGCTGAGTGCTACGATCTGAGGAGCAACCGTGTGGTT
GCTGACCAATACTGTCACTATTACCCAGAGAACATCAAACCCAAACCCAAGCTTCAGGAGTGCAACTTGGATCCTTGTCCAGCCAGTGACGGATACAAGC
AGATCATGCCTTATGACCTCTACCATCCCCTTCCTCGGTGGGAGGCCACCCCATGGACCGCGTGCTCCTCCTCGTGTGGGGGGGGCATCCAGAGCCGGGC
AGTTTCCTGTGTGGAGGAGGACATCCAGGGGCATGTCACTTCAGTGGAAGAGTGGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAAC
ATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGACRTGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATC
GAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGGAATGCATCGTACCCACTCCCTGCTATAAACCCAAAGAGAAACTTCC
AGTCGAGGCCAAGTTGCCATGGTTCAAACAAGCTCAAGAGCTAGAAGAAGGAGCTGCTGTGTCAGAGGAGCCCTCGTTCATCCCAGAGGCCTGGTCGGCC
TGCACAGTCACCTGTGGTGTGGGGACCCAGGTGCGAATAGTCAGGTGCCAGGTGCTCCTGTCTTTCTCTCAGTCCGTGGCTGACCTGCCTATTGACGAGT
GTGAAGGGCCCAAGCCAGCATCCCAGCGTGCCTGTTATGCAGGCCCATGCAGCGGGGAAATTCCTGAGTTCAACCCAGACGAGACAGATGGGCTCTTTGG
TGGCCTGCAGGATTTCGACGAGCTGTATGACTGGGAGTATGAGGGGTTCACCAAGTGCTCCGAGTCCTGTGGAGGAGGTGTCCAGGAGGCTGTGGTGAGC
TGCTTGAACAAACAGACTCGGGAGCCTGCTGAGGAGAACCTGTGCGTGACCAGCCGCCGGCCCCCACAGCTCCTGAAGTCCTGCAATTTGGATCCCTGCC
CAGCAAGGTGGGAAATTGGCAAGTGGAGTCCATGTAGTCTCACATGTGGGGTCGGCCTACAGACCAGAGACGTCTTCTGCAGCCACCTGCTTTCCAGAGA
GATGAATGAAACAGTCATCCTGGCTGATGAGCTGTGTCGCCAGCCCAAGCCCAGCACGGTGCAAGCTTGTAACCGCTTTAATTGCCCCCCAGCCTGGTAC
CCTGCACAGTGGCAGCCGTGTTCCAGAACGTGTGGCGGGGGTGTTCAGAAACGTGAGGTTCTTTGCAAGCAGCGCATGGCTGATGGCAGCTTCCTGGAGC
TTCCTGAGACCTTCTGTTCAGCTTCAAAACCTGCCTGCCAGCAAGCATGCAAGAAAGATGACTGTCCCAGCGAGTGGCTTCTCTCAGACTGGACAGAGTG
TTCCACAAGCTGCGGGGAAGGCACCCAGACTCGAAGCGCCATTTGCCGAAAGATGCTGAAAACCGGCMTCTCAACGGTTGTCAATTCCACCCTGTGCCCG
CCCCTGCCTTTCTCTTCCTCCATCAGGCCCTGTATGCTGGCAACCTGTGCAAGGCCCRGGCGGCCATCCACGAAGCACAGCCCGCACATCGCRGCCGCCA
GGAAGGTCTACATMCAGACTCGCAGGCAGAGGAAGCTGCACTTCGTGGTGGGGGGCTTCGCCTACCTGCTCCCCAAGACGGCGGTGGTGCTGCGCTGCCC
GGCGCGCAGGGTCCGCAAGCCCCTCATCACCTGGGAGAAGGACGGCCAGCACCTCATCAGCTCGACGCACGTCACGGTGGCCCCCTTCGGCTATCTCAAG
ATCCACCGCCTCAAGCCCTCGGATGCAGGCGTCTACACCTGCTCAGCGGGCCCGGCCCGGGAGCACTTTGTGATTAAGCTCATCGGAGGCAACCGCAAGC
TCGTGGCCCGGCCCTTGAGCCCGAGAAGTGAGGAAGAGGTGCTTGCGGGGAGGAAGGGCGGCCCGAAGGAGGCCCTGCAGACCCACAAACACCAGAACGG
GATCTTCTCCAACGGCAGCAAGGCGGAGAAGCGGGGCCTGGCCGCCAACCCGGGGAGCCGCTACGACGACCTCGTCTCCCGGCTGCTGGAGCAGGGCGGC
TGGCCCGGAGAGCTGCTGGCCTCGTGGGAGGCGCAGGACTCYGCGGAAAGGAACACGACCTCGGAGGAGGACCCGGGTGCAGAGCAAGTGCTCCTGCACC
TGCCCTTCACCATGGTGACCGAGCAGCGGCGCCTGGACGACATCCTGGGGAACCTCTCCCAGCAGCCCGAGGAGCTGCGCRACCTCTACAGCAAGCACCT
GGTGGCCCAGCTGGCCCAGGAGATCTTCCGCAGCCACCTGGAGCACCAGGACACGCTCCTGAAGCCCTCGGAGCGCAGGACTTCCCCAGTGACTCTCTCG
CCTCATAAACACGTGTCTGGCTTCAGCAGCTCCCTGCGGACCTCCTCCACCGGGGACGCCGGGGGAGGCTCTCGAAGGCCACACCGCAAGCCCACCATCC
TGCGCAAGATCTCRGCGGCCCAGCAGCTCTCAGCCTCGGAGGTGGTCACCCACCTGGGGCAGACGGTGGCCCTGGCCAGCGGGACACTGAGTGTTCTTCT
GCACTGTGAGGCCATCGGCCACCCAAGGCCTACCATCAGCTGGGCCAGGAATGGAGAAGAAGTTCAGTTCAGTGACAGGATTCTTCTACAGCCAGATGAT
TCCTTACAGATCTTGGCACCAGTGGAAGCAGATGTGGGTTTCTACACTTGCAATGCCACCAATGCCTTGGGATACGACTCTGTCTCCATTGCCGTCACAT
TAGCAGGAAAGCCACTAGTGAAAACGTCACGAATGACAGTGATCAACACGGAGAAGCCTGCAGTCACAGTCGATATAGGAAGCACCATCAAAACAGTGCA
GGGAGTGAATGTGACAATCAACTGCCAGGTTGCAGGAGTGCCTGAAGCTGAAGTCACTTGGTTCAGGAATAAAAGCAAACTGGGCTCCCCGCACCATCTG
CACGAAGGCTCCTTGCTGCTCACAAACGTGTCCTCCTCGGATCAGGGCCTGTACTCCTGCAGGGCGGCCAATCTTCATGGAGAGCTGACTGAGAGCACCC
AGCTGCTGATCCTAGATCCCCCCCAAGTCCCCACACAGTTGGAAGACATCAGGGCCTTGCTCGCTGCCACTGGACCGAACCTTCCTTCAGTGCTGACGTC
TCCTCTGGGAACACAGCTGGTCCTGGATCCTGGGAATTCTGCTCTCCTTGGCTGCCCCATCAAAGGTCACCCTGTCCCTAATATCACCTGGTTTCATGGT
GGTCAGCCAATTGTCACTGCCACAGGACTGACGCATCACATCTTGGCAGCTGGACAGATCCTTCAAGTTGCAAACCTTAGCGGTGGGTCTCAAGGGGAAT
TCAGCTGCCTTGCTCAGAATGAGGCAGGGGTGCTCATGCAGAAGGCATCTTTAGTGATCCAAGATTACTGGTGGTCTGTGGACAGACTGGCAACCTGCTC
AGCCTCCTGTGGTAACCGGGGRGTTCAGCAGCCCCGCTTGAGGTGCCTGCTGAACAGCACGGAGGTCAACCCTGCCCACTGCGCAGGGAAGGTTCGCCCT
GCGGTGCAGCCCATCGCGTGCAACCGGAGAGACTGCCCTTCTCGGTGGATGGTGACCTCCTGGTCTGCCTGTACCCGGAGCTGTGGGGGAGGTGTCCAGA
CCCGCAGGGTGACCTGTCAAAAGCTGAAAGCCTCTGGGATCTCCACCCCTGTGTCCAATGACATGTGCACCCAGGTCGCCAAGCGGCCTGTGGACACCCA
GGCCTGTAACCAGCAGCTGTGTGTGGAGTGGGCCTTCTCCAGCTGGGGCCAGTGCAATGGGCCTTGCATCGGGCCTCACCTAGCTGTGCAACACAGACAA
GTCTTCTGCCAGACACGGGATGGCATCACCTTACCATCAGAGCAGTGCAGTGCTCTTCCGAGGCCTGTGAGCACCCAGAACTGCTGGTCAGAGGCCTGCA
GTGTACACTGGAGAGTCAGCCTGTGGACCCTGTGCACAGCTACCTGTGGCAACTACGGCTTCCAGTCCCGGCGTGTGGAGTGTGTGCATGCCCGCACCAA
CAAGGCAGTGCCTGAGCACCTGTGCTCCTGGGGGCCCCGGCCTGCCAACTGGCAGCGCTGCAACATCACCCCATGTGAAAACATGGAGTGCAGAGACACC
ACCAGGTACTGCGAGAAGGTGAAACAGCTGAAACTCTGCCAACTCAGCCAGTTTAAATCTCGCTGCTGTGGAACTTGTGGCAAAGCGTGAAGATAGGGTG
TGGGGAAAAACTCTACCCTGGCCACACGAAGGACTCACGCAACCACCTCGGACAGAACCTAAGCTTTCTTCATTTTATTTATTTATTTCCCCCTCCCCAC
TCCACACACACCCTTCCAACCTCCTCCACCTCCACCTTCAAGCATAAGGACGTCCGCGTGTTTTCTCTTTCAGTTAGCTGGAGGACAGGATGTTGGGAAA
GGAAAGGACAGATGTCTAAAGGAGGTTGCAGAGCAGGCCAGGCAGACAGTGGGGGCTCCCTTGAAGAGCTTCCTCCCTCCCAAACCTGGGTCTCAAAGAC
CTAGAAAGAGGCAGGCACAGCCCCTGCGGACAGCAGGGAGCCAGAAGGTTTGTAGCCTATTGGTGCAAACATTGGACAAATTCCTGTGTCTTTCCTAGAA
GCGCACTATCACAAACACAGGAGTGTTTTGCTCCTTTGTCTCCTCTTCCCCATCTATGTCCCTTTAGTCACAGTTAGGACAAATGGGGAGGGGACACCAT
GCTGAGGCAGAAACTAGCCCAGAACTCACTCAGTTCTTCTAGTGGGTGAGTGCAGAGAGAGAAGAACTCAGATCACCAGTAGGGAGAGGTAAAAAAGCAA
ACAAAGCAGGCTCTAAGGCACACAACATTGCAGAAAATGAGGAAGGGAGGGGAGGGAAGGGACAGAAGCAAAAAGGAGCCTGTGGTGTTCCCCAGTGGGG
CAGGGTGAGCAGGGGCTTCCAGGCTGCATGAGGCTCATGGACCAGCTCTGATCCCATGCATGTGCGCATGCTCAGAGCCCTGCTGCCCACAACAGAGCAC
TGCGCTGCGTGGGAGTCCCCACTTCCCARGCTATCAGAGTCAACGTCCTGCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGGTGGGTCTCGCCATGCAGTA
AGGCCACCCTGGCACCTCTTTATCTAAATCCGAAGTCCCCTAGCCCCGCACTAACTAACTGCTGCTGTGGGCCAGGGCCATTTTGAGCATGAATGGCCCA
GGTTTTTTGCCTTCTAGGACCTTTGCTGCTCCACCGAAGGGCCAGGGACTATGGTTAACTTATCAACATCAACCCATTAACTAGTCACTGTGCCAGAGAG
TATCTGTCAGGCTGTCAGGCTGTCAGGTTGTAGCAACCTCTTCATTCCAGAGCTRGCCCAGGGACCGGGGTGGGACAATGGGTTTATGCGTGTCCACAGT
ACACCCTCCCTCTCCCAGCCTCCACCCCAGGGTCTGCAGGTCCTCCGGCATGTAGTATTTATCTAGCAAGGCGGGGTGGTGGAGGCAGCACCCTGGCAAA
GCAGCTCACACACTGCAGCCACACTCATCAGCTGTGGTGAGGCGGCTGGAGCAAAGTCAAAGTCATGCAGCAAAATGAAAACTCTGGGACTCTTCGGCAA
AATCCTCATTAAGCCGAGCAGCTTTGGCCAAGTAATTTTTGCCTCCTTCCCTCGCGTGGCCTGAGTTTAGGAGCAAGGGTGGCCAGAGTCCCTTACCCAC
AGATAAGCCTCCCCTCATGAAATGCCACTCACCCCGGGCTACCATTGACATCAGGGCTGCATTTCCAGCCAGCCTGGAAGTAAAATTTGAGAGGAAGACA
ATATTAATCTGTGTCCCCACCTAGTGAGCTGTGGACAGGTTTAAGTTGGGTCTCCTTCTTCTTCACCACAAAAACAGGCTCTAAGAAATCATGTTACTAA
AAAATCAGTGTAAAGTCTGTTTAAAATAAAAAAGAATGTTTTCT

Protein Sequence    (SEQ ID NO:873):
MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSECSRTCGGGASYSLRRCLSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVK
HHGQFYEWLPVSNDPDNPCSLKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCDHQLGSTVKEDNCGVCNGDGSTCRLVRGQYKSQLSATK
SDDTVVAIPYGSRHIRLVLKGPDHLYLETKTLQGTKGENSLSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRNSGSADSTVQFIFYQPIIHR
WRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHYYPENIKPKPKLQECNLDPCPASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSRA
VSCVEEDIQGHVTSVEEWKCMYTPKMPIAQPCNIFDCPKWLAQEWSPCTVTCGQGLRYRVVLCIDHRGMHTGGCSPKTKPHIKEECIVPTPCYKPKEKLP
VEAKLPWFKQAQELEEGAAVSEEPSFIPEAWSACTVTCGVGTQVRIVRCQVLLSFSQSVADLPIDECEGPKPASQRACYAGPCSGEIPEFNPDETDGLFG
GLQDFDELYDWEYEGFTKCSESCGGGVQEAVVSCLNKQTREPAEENLCVTSRRPPQLLKSCNLDPCPARWEIGKWSPCSLTCGVGLQTRDVFCSHLLSRE
MNETVILADELCRQPKPSTVQACNRFNCPPAWYPAQWQPCSRTCGGGVQKREVLCKQRMADGSFLELPETFCSASKPACQQACKKDDCPSEWLLSDWTEC
STSCGEGTQTRSAICRKMLKTGISTVVNSTLCPPLPFSSSIRPCMLATCARPGRPSTKHSPHIAAARKVYIQTRRQRKLHFVVGGFAYLLPKTAVVLRCP
ARRVRKPLITWEKDGQHLISSTHVTVAPFGYLKIHRLKPSDAGVYTCSAGPAREHFVIKLIGGNRKLVARPLSPRSEEEVLAGRKGGPKEALQTHKHQNG
IFSNGSKAEKRGLAANPGSRYDDLVSRLLEQGGWPGELLASWEAQDSAERNTTSEEDPGAEQVLLHLPFTMVTEQRRLDDILGNLSQQPEELRDLYSKHL
VAQLAQEIFRSHLEHQDTLLKPSERRTSPVTLSPHKHVSGFSSSLRTSSTGDAGGGSRRPHRKPTILRKISAAQQLSASEVVTHLGQTVALASGTLSVLL
HCEAIGHPRPTISWARNGEEVQFSDRILLQPDDSLQILAPVEADVGFYTCNATNALGYDSVSIAVTLAGKPLVKTSRMTVINTEKPAVTVDIGSTIKTVQ
GVNVTINCQVAGVPEAEVTWFRNKSKLGSPHHLHEGSLLLTNVSSSDQGLYSCRAANLHGELTESTQLLILDPPQVPTQLEDIRALLAATGPNLPSVLTS
PLGTQLVLDPGNSALLGCPIKGHPVPNITWFHGGQPIVTATGLTHHILAAGQILQVANLSGGSQGEFSCLAQNEAGVLMQKASLVIQDYWWSVDRLATCS
ASCGNRGVQQPRLRCLLNSTEVNPAHCAGKVRPAVQPIACNRRDCPSRWMVTSWSACTRSCGGGVQTRRVTCQKLKASGISTPVSNDMCTQVAKRPVDTQ
ACNQQLCVEWAFSSWGQCNGPCIGPHLAVQHRQVFCQTRDGITLPSEQCSALPRPVSTQNCWSEACSVHWRVSLWTLCTATCGNYGFQSRRVECVHARTN
KAVPEHLCSWGPRPANWQRCNITPCENMECRDTTRYCEKVKQLKLCQLSQFKSRCCGTCGKA


SNP Information

Context             (SEQ ID NO:3841):
CAGCGAGTGGCTTCTCTCAGACTGGACAGAGTGTTCCACAAGCTGCGGGGAAGGCACCCAGACTCGAAGCGCCATTTGCCGAAAGATGCTGAAAACCGGC
M
TCTCAACGGTTGTCAATTCCACCCTGTGCCCGCCCCTGCCTTTCTCTTCCTCCATCAGGCCCTGTATGCTGGCAACCTGTGCAAGGCCCGGGCGGCCATC
Celera SNP ID:            hCV8020468
SNP Position Transcript:  2668
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,7)      total(A,7|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:873, 823, (I,ATC)   (L,CTC)      823, (L,CTC)   (I,ATC)      



Context             (SEQ ID NO:3842):
GGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAACATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGTGCACAGTGAC
R
TGTGGCCAGGGCCTCAGATACCGTGTGGTCCTCTGCATCGACCATCGAGGAATGCACACAGGAGGCTGTAGCCCAAAAACAAAGCCCCACATAAAAGAGG
Celera SNP ID:            hCV11844151
SNP Position Transcript:  1554
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,6)   total(G,2|A,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 451, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:3843):
AGAGCAAGTGCTCCTGCACCTGCCCTTCACCATGGTGACCGAGCAGCGGCGCCTGGACGACATCCTGGGGAACCTCTCCCAGCAGCCCGAGGAGCTGCGC
R
ACCTCTACAGCAAGCACCTGGTGGCCCAGCTGGCCCAGGAGATCTTCCGCAGCCACCTGGAGCACCAGGACACGCTCCTGAAGCCCTCGGAGCGCAGGAC
Celera SNP ID:            hCV16196067
SNP Position Transcript:  3481
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:873, 1094, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:3844):
CTTCCTCCATCAGGCCCTGTATGCTGGCAACCTGTGCAAGGCCCGGGCGGCCATCCACGAAGCACAGCCCGCACATCGCGGCCGCCAGGAAGGTCTACAT
M
CAGACTCGCAGGCAGAGGAAGCTGCACTTCGTGGTGGGGGGCTTCGCCTACCTGCTCCCCAAGACGGCGGTGGTGCTGCGCTGCCCGGCGCGCAGGGTCC
Celera SNP ID:            hCV8769387
SNP Position Transcript:  2814
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 871, (I,ATA)   (I,ATC)      



Context             (SEQ ID NO:3845):
AATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCT
R
TGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGTGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAA
Celera SNP ID:            hCV25960698
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,38)   total(A,72|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 35, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:3846):
CCGCCAACCCGGGGAGCCGCTACGACGACCTCGTCTCCCGGCTGCTGGAGCAGGGCGGCTGGCCCGGAGAGCTGCTGGCCTCGTGGGAGGCGCAGGACTC
Y
GCGGAAAGGAACACGACCTCGGAGGAGGACCCGGGTGCAGAGCAAGTGCTCCTGCACCTGCCCTTCACCATGGTGACCGAGCAGCGGCGCCTGGACGACA
Celera SNP ID:            hCV29146850
SNP Position Transcript:  3342
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 1047, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:3847):
GAAAACCGGCATCTCAACGGTTGTCAATTCCACCCTGTGCCCGCCCCTGCCTTTCTCTTCCTCCATCAGGCCCTGTATGCTGGCAACCTGTGCAAGGCCC
R
GGCGGCCATCCACGAAGCACAGCCCGCACATCGCGGCCGCCAGGAAGGTCTACATCCAGACTCGCAGGCAGAGGAAGCTGCACTTCGTGGTGGGGGGCTT
Celera SNP ID:            hCV11719590
SNP Position Transcript:  2758
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:873, 853, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:3848):
TGTCTGGCTTCAGCAGCTCCCTGCGGACCTCCTCCACCGGGGACGCCGGGGGAGGCTCTCGAAGGCCACACCGCAAGCCCACCATCCTGCGCAAGATCTC
R
GCGGCCCAGCAGCTCTCAGCCTCGGAGGTGGTCACCCACCTGGGGCAGACGGTGGCCCTGGCCAGCGGGACACTGAGTGTTCTTCTGCACTGTGAGGCCA
Celera SNP ID:            hCV27921414
SNP Position Transcript:  3714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 1171, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:3849):
TGTGCCCGCCCCTGCCTTTCTCTTCCTCCATCAGGCCCTGTATGCTGGCAACCTGTGCAAGGCCCGGGCGGCCATCCACGAAGCACAGCCCGCACATCGC
R
GCCGCCAGGAAGGTCTACATCCAGACTCGCAGGCAGAGGAAGCTGCACTTCGTGGTGGGGGGCTTCGCCTACCTGCTCCCCAAGACGGCGGTGGTGCTGC
Celera SNP ID:            hCV11719589
SNP Position Transcript:  2793
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 864, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:3850):
AGGCAGGGGTGCTCATGCAGAAGGCATCTTTAGTGATCCAAGATTACTGGTGGTCTGTGGACAGACTGGCAACCTGCTCAGCCTCCTGTGGTAACCGGGG
R
GTTCAGCAGCCCCGCTTGAGGTGCCTGCTGAACAGCACGGAGGTCAACCCTGCCCACTGCGCAGGGAAGGTTCGCCCTGCGGTGCAGCCCATCGCGTGCA
Celera SNP ID:            hCV3178459
SNP Position Transcript:  4722
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 1507, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:3851):
CCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAGGGGACTAAAGGTGAAAACAGTCTCA
R
CTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAATGGCTGGACCACTCACAGCAGATTTC
Celera SNP ID:            hCV8769759
SNP Position Transcript:  926
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,1|G,39)   total(A,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:873, 242, (N,AAC)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:873, 242, (S,AGC)   (N,AAC)      242, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3852):
TCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCTATGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGG
W
GGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAG
Celera SNP ID:            hCV1440472
SNP Position Transcript:  354
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,11)   caucasian(A,22|T,14)   total(A,49|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 51, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,6)      total(A,4|T,6) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:873, 51, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:3853):
TTAACTTATCAACATCAACCCATTAACTAGTCACTGTGCCAGAGAGTATCTGTCAGGCTGTCAGGCTGTCAGGTTGTAGCAACCTCTTCATTCCAGAGCT
R
GCCCAGGGACCGGGGTGGGACAATGGGTTTATGCGTGTCCACAGTACACCCTCCCTCTCCCAGCCTCCACCCCAGGGTCTGCAGGTCCTCCGGCATGTAG
Celera SNP ID:            hCV11263113
SNP Position Transcript:  6655
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,4)   total(G,2|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:873, None   



Context             (SEQ ID NO:3854):
TGAGGCTCATGGACCAGCTCTGATCCCATGCATGTGCGCATGCTCAGAGCCCTGCTGCCCACAACAGAGCACTGCGCTGCGTGGGAGTCCCCACTTCCCA
R
GCTATCAGAGTCAACGTCCTGCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGGTGGGTCTCGCCATGCAGTAAGGCCACCCTGGCACCTCTTTATCTAAAT
Celera SNP ID:            hCV11263115
SNP Position Transcript:  6329
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,4)   total(G,4|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:873, None   



Gene Number:                 77
Celera Gene:                 hCG1818607 - 209000072028230
Celera Transcript:           hCT2344811 - 209000072028228
Public Transcript Accession: NM_152702
Celera Protein:              hCP1910044 - 209000072028193
Public Protein Accession:    NP_689915
Gene Symbol:                 FLJ35283
Protein Name:                hypothetical protein FLJ35283;ADAMTSR1;MGC40193
Celera Genomic Axis:         GA_x5YUV32VTY6(20103630..20311788)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:177):
TGCCTGCTCCGAGAGAGATTCCATTCAGCTTACCCCCCACCCATCCACCCACCCACCCCTCGGTCAGGAAATGTGAGAGGGGCTGATGGAAGCTGATAGG
CAGGACTGGAGTGTTAGCACCAGTACTGGATGTGACAGCAGGCAGAGGAGCACTTAGCAGCTTATTCAGTGTCCGATTCTGATTCCGGCAAGGATCCAAG
CATGGAATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGAC
GGCCTRTGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGWGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTG
AAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAGCAGGTGATTTCCGAGCTCAGCAATGCTCAGCTCATAATGATGTCAA
GCACCATGGCCAGTTTTATGAATGGCTTCCTGTGTCTAATGACCCTGACAACCCATGTTCACTCAAGTGCCAAGCCAAAGGAACAACCCTGGTTGTTGAA
CTAGCACCTAAGGTCTTAGATGGTACGCGTTGCTATACAGAATCTTTGGATATGTGCATCAGTGGTTTATGCCAAATTGTTGGCTGCGATCACCAGCTGG
GAAGCACCGTCAAGGAAGATAACTGTGGGGTCTGCAACGGAGATGGGTCCACCTGCCGGCTGGTCCGAGGGCAGTATAAATCCCAGCTCTCCGCAACCAA
ATCGGATGATACTGTGGTTGCAATTCCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAG
GGGACTAAAGGTGAAAACAGTCTCARCTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAA
TGGCTGGACCACTCACAGCAGATTTCATTGTCAAGATTCGTAACTCGGGCTCCGCTGACAGTACAGTCCAGTTCATCTTCTATCAACCCATCATCCACCG
ATGGAGGGAGACGGATTTCTTTCCTTGCTCAGCAACCTGTGGAGGAGGTTATCAGCTGACATCGGCTGAGTGCTACGATCTGAGGAGCAACCGTGTGGTT
GCTGACCAATACTGTCACTATTACCCAGAGAACATCAAACCCAAACCCAAGCTTCAGGAGTGCAACTTGGATCCTTGTCCAGCCAGTGACGGATACAAGC
AGATCATGCCTTATGACCTCTACCATCCCCTTCCTCGGTGGGAGGCCACCCCATGGACCGCGTGCTCCTCCTCGTGTGGGGGGGGCATCCAGAGCCGGGC
AGTTTCCTGTGTGGAGGAGGACATCCAGGGGCATGTCACTTCAGTGGAAGAGTGGAAATGCATGTACACCCCTAAGATGCCCATCGCGCAGCCCTGCAAC
ATTTTTGACTGCCCTAAATGGCTGGCACAGGAGTGGTCTCCGGTAACTGTGCCTTCTTTCTTTGTTCATTAGGAGAGTAAGTCCACTCTTCCCTCTCATC
ATCATGGCCCCACYGGGTACCCTGAGCAGCTCCACACTCTTCTTGAGGTGTCTAGAAGCCTACCAGCTTAGCTCCTGGAGTAGGAATGCCCCAAATCCAG
CATGACSAAAAGTAAATGATGTTTTTTTAAAGTGTCTTTCTTCAAGTTTCTTCAAGAAGCCTCTATTGTTCCCCAGATAATGTTCCCTCAAATAGCACRG
GGAAGCAACTGCCTTTCAAGGGTAATTGAGGCTGAATGAATGATCCCGAATCTGTAAAAGCTGCTTTGATGATAGAGCTCAGTAGACCAGAAGTTTGATT
TCATTTTGTATGTATTATGCTTTGTATCCGAAAGGGTCTAAGTGGATTAATATTAAAACTATGTATATTAATCATTGGAGAAGGGGGAAGAGGAAATGAA
AATAGCACAAAAATTAAAATTGGAACGAAGTAAGATAATTAAAACAAAAAACTTATAGATGTTAGGAAACCTGCTGTAATTAAACATAAAATGTCATTCA
GGGTTTCCTGACTGCTAATGCAGAAAGGAAAATCGTAAAGGAAACAGAAAGATGAAATAAGCCATTGTGCCCTCCGCCTCAGAAATGACAAAAGACTCTT
CACTGAGCCCTGTGGCTTCATGGCAGCAGATCAGAGCTGTGACATTTTCTACATCTAGACATGCTACCAGACATGGGGAACCATTAGAGGTGCAATCTAC
ATTGGGCATCTGGTCATTCAATCTGTTTTTTTAAATGTTATTTTTGCCTTTCAATGTAATCAATTGGATTAACAATGCTGCAATATAATTTAGCTATAAT
CGTAGTTTAAATTTTTTGATATCCATGTAGGGGTATTTCCCATATTTTTGGAAGTAGCGGTCATTAGCAAAGTAACTAARTAAAATACAGTGCTGGTAGT
C

Protein Sequence    (SEQ ID NO:874):
MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSECSRTCGGGASYSLRRCLSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVK
HHGQFYEWLPVSNDPDNPCSLKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCDHQLGSTVKEDNCGVCNGDGSTCRLVRGQYKSQLSATK
SDDTVVAIPYGSRHIRLVLKGPDHLYLETKTLQGTKGENSLSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRNSGSADSTVQFIFYQPIIHR
WRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHYYPENIKPKPKLQECNLDPCPASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSRA
VSCVEEDIQGHVTSVEEWKCMYTPKMPIAQPCNIFDCPKWLAQEWSPVTVPSFFVH


SNP Information

Context             (SEQ ID NO:3855):
GCCCCACCGGGTACCCTGAGCAGCTCCACACTCTTCTTGAGGTGTCTAGAAGCCTACCAGCTTAGCTCCTGGAGTAGGAATGCCCCAAATCCAGCATGAC
S
AAAAGTAAATGATGTTTTTTTAAAGTGTCTTTCTTCAAGTTTCTTCAAGAAGCCTCTATTGTTCCCCAGATAATGTTCCCTCAAATAGCACGGGGAAGCA
Celera SNP ID:            hCV1746338
SNP Position Transcript:  1707
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,4)      total(G,2|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:874, None   



Context             (SEQ ID NO:3856):
CCCTATGGAAGTAGACATATTCGCCTTGTCTTAAAAGGTCCTGATCACTTATATCTGGAAACCAAAACCCTCCAGGGGACTAAAGGTGAAAACAGTCTCA
R
CTCCACAGGAACTTTCCTTGTGGACAATTCTAGTGTGGACTTCCAGAAATTTCCAGACAAAGAGATACTGAGAATGGCTGGACCACTCACAGCAGATTTC
Celera SNP ID:            hCV8769759
SNP Position Transcript:  926
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,1|G,39)   total(A,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:874, 242, (N,AAC)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:874, 242, (S,AGC)   (N,AAC)      242, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3857):
AATGCTGCCGTCGGGCAACTCCTGGCACACTGCTCCTCTTTCTGGCTTTCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCT
R
TGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGGTGGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAA
Celera SNP ID:            hCV25960698
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,38)   total(A,72|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:874, 35, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:3858):
TCCTGCTCCTGAGTTCCAGGACCGCACGCTCCGAGGAGGACCGGGACGGCCTATGGGATGCCTGGGGCCCATGGAGTGAATGCTCACGCACCTGCGGGGG
W
GGGGCCTCCTACTCTCTGAGGCGCTGCCTGAGCAGCAAGAGCTGTGAAGGAAGAAATATCCGATACAGAACATGCAGTAATGTGGACTGCCCACCAGAAG
Celera SNP ID:            hCV1440472
SNP Position Transcript:  354
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,11)   caucasian(A,22|T,14)   total(A,49|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:874, 51, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,6)      total(A,4|T,6) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:874, 51, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:3859):
GCAATATAATTTAGCTATAATCGTAGTTTAAATTTTTTGATATCCATGTAGGGGTATTTCCCATATTTTTGGAAGTAGCGGTCATTAGCAAAGTAACTAA
R
TAAAATACAGTGCTGGTAGTC
Celera SNP ID:            hCV8769642
SNP Position Transcript:  2480
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   Caucasian(G,25|A,59)   African-American(G,13|A,71)   no_pop(A,-|G,-)   Asians(G,17|A,67)   total(G,55|A,197)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:874, None   



Context             (SEQ ID NO:3860):
CTAAATGGCTGGCACAGGAGTGGTCTCCGGTAACTGTGCCTTCTTTCTTTGTTCATTAGGAGAGTAAGTCCACTCTTCCCTCTCATCATCATGGCCCCAC
Y
GGGTACCCTGAGCAGCTCCACACTCTTCTTGAGGTGTCTAGAAGCCTACCAGCTTAGCTCCTGGAGTAGGAATGCCCCAAATCCAGCATGACCAAAAGTA
Celera SNP ID:            hCV25959661
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,34)   total(C,59|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:874, None



Context             (SEQ ID NO:3861):
AGCATGACCAAAAGTAAATGATGTTTTTTTAAAGTGTCTTTCTTCAAGTTTCTTCAAGAAGCCTCTATTGTTCCCCAGATAATGTTCCCTCAAATAGCAC
R
GGGAAGCAACTGCCTTTCAAGGGTAATTGAGGCTGAATGAATGATCCCGAATCTGTAAAAGCTGCTTTGATGATAGAGCTCAGTAGACCAGAAGTTTGAT
Celera SNP ID:            hCV8769643
SNP Position Transcript:  1799
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:874, None   



Gene Number:                 77
Celera Gene:                 hCG1818607 - 209000072028230
Celera Transcript:           hCT1779662 - 209000072028196
Public Transcript Accession: NM_152702
Celera Protein:              hCP1713970 - 209000072028191
Public Protein Accession:    NP_689915
Gene Symbol:                 FLJ35283
Protein Name:                hypothetical protein FLJ35283;ADAMTSR1;MGC40193
Celera Genomic Axis:         GA_x5YUV32VTY6(19875033..19959221)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:178):
ATTTAATCTGGCCAAAGCCTGGTAGAAGATGTCCCTGTAGAGCAGCCCCAGGGAAGGGGGATTCAAGAAGCTATAAATGCCTCTGGGCTCACCTGAATGT
GTTTGACTGATGAGTGGGGTTTTTTGTTTTTTTTTTTCTTCCTAGGAGTGCCTGAAGCTGAAGTCACTTGGTTCAGGAATAAAAGCAAACTGGGCTCCCC
GCACCATCTGCACGAAGGCTCCTTGCTGCTCACAAACGTGTCCTCCTCGGATCAGGGCCTGTACTCCTGCAGGGCGGCCAATCTTCATGGAGAGCTGACT
GAGAGCACCCAGCTGCTGATCCTAGATCCCCCCCAAGTCCCCACACAGTTGGAAGACATCAGGGCCTTGCTCGCTGCCACTGGACCGAACCTTCCTTCAG
TGCTGACGTCTCCTCTGGGAACACAGCTGGTCCTGGATCCTGGGAATTCTGCTCTCCTTGGCTGCCCCATCAAAGGTCACCCTGTCCCTAATATCACCTG
GTTTCATGGTGGTCAGCCAATTGTCACTGCCACAGGACTGACGCATCACATCTTGGCAGCTGGACAGATCCTTCAAGTTGCAAACCTTAGCGGTGGGTCT
CAAGGGGAATTCAGCTGCCTTGCTCAGAATGAGGCAGGGGTGCTCATGCAGAAGGCATCTTTAGTGATCCAAGATTACTGGTGGTCTGTGGACAGACTGG
CAACCTGCTCAGCCTCCTGTGGTAACCGGGGRGTTCAGCAGCCCCGCTTGAGGTGCCTGCTGAACAGCACGGAGGTCAACCCTGCCCACTGCGCAGGGAA
GGTTCGCCCTGCGGTGCAGCCCATCGCGTGCAACCGGAGAGACTGCCCTTCTCGGTGGATGGTGACCTCCTGGTCTGCCTGTACCCGGAGCTGTGGGGGA
GGTGTCCAGACCCGCAGGGTGACCTGTCAAAAGCTGAAAGCCTCTGGGATCTCCACCCCTGTGTCCAATGACATGTGCACCCAGGTCGCCAAGCGGCCTG
TGGACACCCAGGCCTGTAACCAGCAGCTGTGTGTGGAGTGGGCCTTCTCCAGCTGGGGCCAGTGCAATGGGCCTTGCATCGGGCCTCACCTAGCTGTGCA
ACACAGACAAGTCTTCTGCCAGACACGGGATGGCATCACCTTACCATCAGAGCAGTGCAGTGCTCTTCCGAGGCCTGTGAGCACCCAGAACTGCTGGTCA
GAGGCCTGCAGTGTACACTGGAGAGTCAGCCTGTGGACCCTGTGCACAGCTACCTGTGGCAACTACGGCTTCCAGTCCCGGCGTGTGGAGTGTGTGCATG
CCCGCACCAACAAGGCAGTGCCTGAGCACCTGTGCTCCTGGGGGCCCCGGCCTGCCAACTGGCAGCGCTGCAACATCACCCCATGTGAAAACATGGAGTG
CAGAGACACCACCAGGTACTGCGAGAAGGTGAAACAGCTGAAACTCTGCCAACTCAGCCAGTTTAAATCTCGCTGCTGTGGAACTTGTGGCAAAGCGTGA
AGATAGGGTGTGGGGAAAAACTCTACCCTGGCCACACGAAGGACTCACGCAACCACCTCGGACAGAACCTAAGCTTTCTTCATTTTATTTATTTATTTCC
CCCTCCCCACTCCACACACACCCTTCCAACCTCCTCCACCTCCACCTTCAAGCATAAGGACGTCCGCGTGTTTTCTCTTTCAGTTAGCTGGAGGACAGGA
TGTTGGGAAAGGAAAGGACAGATGTCTAAAGGAGGTTGCAGAGCAGGCCAGGCAGACAGTGGGGGCTCCCTTGAAGAGCTTCCTCCCTCCCAAACCTGGG
TCTCAAAGACCTAGAAAGAGGCAGGCACAGCCCCTGCGGACAGCAGGGAGCCAGAAGGTTTGTAGCCTATTGGTGCAAACATTGGACAAATTCCTGTGTC
TTTCCTAGAAGCGCACTATCACAAACACAGGAGTGTTTTGCTCCTTTGTCTCCTCTTCCCCATCTATGTCCCTTTAGTCACAGTTAGGACAAATGGGGAG
GGGACACCATGCTGAGGCAGAAACTAGCCCAGAACTCACTCAGTTCTTCTAGTGGGTGAGTGCAGAGAGAGAAGAACTCAGATCACCAGTAGGGAGAGGT
AAAAAAGCAAACAAAGCAGGCTCTAAGGCACACAACATTGCAGAAAATGAGGAAGGGAGGGGAGGGAAGGGACAGAAGCAAAAAGGAGCCTGTGGTGTTC
CCCAGTGGGGCAGGGTGAGCAGGGGCTTCCAGGCTGCATGAGGCTCATGGACCAGCTCTGATCCCATGCATGTGCGCATGCTCAGAGCCCTGCTGCCCAC
AACAGAGCACTGCGCTGCGTGGGAGTCCCCACTTCCCARGCTATCAGAGTCAACGTCCTGCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGGTGGGTCTCG
CCATGCAGTAAGGCCACCCTGGCACCTCTTTATCTAAATCCGAAGTCCCCTAGCCCCGCACTAACTAACTGCTGCTGTGGGCCAGGGCCATTTTGAGCAT
GAATGGCCCAGGTTTTTTGCCTTCTAGGACCTTTGCTGCTCCACCGAAGGGCCAGGGACTATGGTTAACTTATCAACATCAACCCATTAACTAGTCACTG
TGCCAGAGAGTATCTGTCAGGCTGTCAGGCTGTCAGGTTGTAGCAACCTCTTCATTCCAGAGCTRGCCCAGGGACCGGGGTGGGACAATGGGTTTATGCG
TGTCCACAGTACACCCTCCCTCTCCCAGCCTCCACCCCAGGGTCTGCAGGTCCTCCGGCATGTAGTATTTATCTAGCAAGGCGGGGTGGTGGAGGCAGCA
CCCTGGCAAAGCAGCTCACACACTGCAGCCACACTCATCAGCTGTGGTGAGGCGGCTGGAGCAAAGTCAAAGTCATGCAGCAAAATGAAAACTCTGGGAC
TCTTCGGCAAAATCCTCATTAAGCCGAGCAGCTTTGGCCAAGTAATTTTTGCCTCCTTCCCTCGCGTGGCCTGAGTTTAGGAGCAAGGGTGGCCAGAGTC
CCTTACCCACAGATAAGCCTCCCCTCATGAAATGCCACTCACCCCGGGCTACCATTGACATCAGGGCTGCATTTCCAGCCAGCCTGGAAGTAAAATTTGA
GAGGAAGACAATATTAATCTGTGTCCCCACCTAGTGAGCTGTGGACAGGTTTAAGTTGGGTCTCCTTCTTCTTCACCACAAAAACAGGCTCTAAGAAATC
ATGTTACTAAAAAATCAGTGTAAAGTCTGTTTAAAATAAAAAAGAATGTTTTCT

Protein Sequence    (SEQ ID NO:875):
MCLTDEWGFLFFFFFLGVPEAEVTWFRNKSKLGSPHHLHEGSLLLTNVSSSDQGLYSCRAANLHGELTESTQLLILDPPQVPTQLEDIRALLAATGPNLP
SVLTSPLGTQLVLDPGNSALLGCPIKGHPVPNITWFHGGQPIVTATGLTHHILAAGQILQVANLSGGSQGEFSCLAQNEAGVLMQKASLVIQDYWWSVDR
LATCSASCGNRGVQQPRLRCLLNSTEVNPAHCAGKVRPAVQPIACNRRDCPSRWMVTSWSACTRSCGGGVQTRRVTCQKLKASGISTPVSNDMCTQVAKR
PVDTQACNQQLCVEWAFSSWGQCNGPCIGPHLAVQHRQVFCQTRDGITLPSEQCSALPRPVSTQNCWSEACSVHWRVSLWTLCTATCGNYGFQSRRVECV
HARTNKAVPEHLCSWGPRPANWQRCNITPCENMECRDTTRYCEKVKQLKLCQLSQFKSRCCGTCGKA


SNP Information

Context             (SEQ ID NO:3862):
AGGCAGGGGTGCTCATGCAGAAGGCATCTTTAGTGATCCAAGATTACTGGTGGTCTGTGGACAGACTGGCAACCTGCTCAGCCTCCTGTGGTAACCGGGG
R
GTTCAGCAGCCCCGCTTGAGGTGCCTGCTGAACAGCACGGAGGTCAACCCTGCCCACTGCGCAGGGAAGGTTCGCCCTGCGGTGCAGCCCATCGCGTGCA
Celera SNP ID:            hCV3178459
SNP Position Transcript:  732
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:875, 212, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:3863):
TTAACTTATCAACATCAACCCATTAACTAGTCACTGTGCCAGAGAGTATCTGTCAGGCTGTCAGGCTGTCAGGTTGTAGCAACCTCTTCATTCCAGAGCT
R
GCCCAGGGACCGGGGTGGGACAATGGGTTTATGCGTGTCCACAGTACACCCTCCCTCTCCCAGCCTCCACCCCAGGGTCTGCAGGTCCTCCGGCATGTAG
Celera SNP ID:            hCV11263113
SNP Position Transcript:  2665
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,4)   total(G,2|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:875, None   



Context             (SEQ ID NO:3864):
TGAGGCTCATGGACCAGCTCTGATCCCATGCATGTGCGCATGCTCAGAGCCCTGCTGCCCACAACAGAGCACTGCGCTGCGTGGGAGTCCCCACTTCCCA
R
GCTATCAGAGTCAACGTCCTGCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGGTGGGTCTCGCCATGCAGTAAGGCCACCCTGGCACCTCTTTATCTAAAT
Celera SNP ID:            hCV11263115
SNP Position Transcript:  2339
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,4)   total(G,4|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:875, None   



Gene Number:                 78
Celera Gene:                 hCG1818813 - 104000117711665
Celera Transcript:           hCT1966870 - 104000117711666
Public Transcript Accession: NM_000623
Celera Protein:              hCP1780609 - 197000069391014
Public Protein Accession:    NP_000614
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(43519845..43531442)
Chromosome:                  Chr14
OMIM number:                 113503
OMIM Information:            BRADYKININ RECEPTOR B2;BDKRB2


Transcript Sequence (SEQ ID NO:179):
AGAGAGCTGGCCTGAGTGAGCTGGACTTCGGAGATGCATCTGGCTGCCTTGCCAAGGTGGTGGAGGGCGGAAAGGAAAGAATATACAATCACAAAAGCTT
GGAGACCACTGATCTACATGCCAGAAGCCTGTTAACAGATTGAGCAGAAATGAATAGCACCCCTTCCCAAAGGCTTCTGAGTGTGCAAGGCGGTACCCCA
GGGACCAAACTCGGGGGTTTCGGGAGTTGTAACAAATGCTAGAGCTATGCAAAAACCTCATCCATTTATTATGCTCTACAGAAAAGACACATGTTTACAT
GATTTTCTCGTTTGGATGTGAAATGCTTCCTGTTTACAACATAACAGCTCATTGAGTCTTTCACAGGACAGATGTTCTTTATCAGGGCATCTACACCATG
CATAGGGCCGCTCTTCTCCCGCAGACTCAGTTGCCCCTCAGACCAGGTGTGGATCCCCACATGGCCATTGCGGCAGAGCTCTGCTCCTAAGAGAGTCTCA
GACCATCACGTGCTCTGGTGCTGAATGACTGCCCTGTGTGACAAAACACAGCCTCTTTTTTTTTTTTTCATTCACCATGTGTGGCACAGTTTGACTTCAT
TCTAATACTAATACTAAATGGTTTTTACTTCTTCTTTCACCTGTTTTCTTCCTCCAGATACTTACTGAGGCAGAGGAGAGTGGGTGGTGGGAAAAAAGAG
TGGGTTGGGGGTAAGGAGGGAATCTTTTTTTTSACGCTTTTGCTTTAAAATTCAGAGTTGGATTGGTCAGGATTTATGGGCTCTTTGCCATGTAAATTTT
TCTCATTCTCCAGGTTCTAGCCCTCCAGGTTCATTCCCTCCAGGTTCTAGCTTGCCAGGTTCTAGCCTGCCGGGTTCTAGCTCTCCATGTTCTAGCTCTA
CAGGTTCTAGCCCTTCCAGGTTCTAGCCCTCCAGGTTCTGGCTCTCCAGGTTCTAGCCCTTCTAGGTTCTAACCTGCCAGGTTCTAGCCCTCCAGGTTCT
AGCCCTTCTAGGTTCTAGCCCTCCAGGTTCTAGCCCTCCAGGTTCTAGCTCTCCAGATTCCAGCCCTCCAGGTTCTA

Protein Sequence    (SEQ ID NO:876):
MFFIRASTPCIGPLFSRRLSCPSDQVWIPTWPLRQSSAPKRVSDHHVLWC


SNP Information

Context             (SEQ ID NO:3865):
TCTTTCACCTGTTTTCTTCCTCCAGATACTTACTGAGGCAGAGGAGAGTGGGTGGTGGGAAAAAAGAGTGGGTTGGGGGTAAGGAGGGAATCTTTTTTTT
S
ACGCTTTTGCTTTAAAATTCAGAGTTGGATTGGTCAGGATTTATGGGCTCTTTGCCATGTAAATTTTTCTCATTCTCCAGGTTCTAGCCCTCCAGGTTCA
Celera SNP ID:            hCV7565923
SNP Position Transcript:  733
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:876, None   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343634 - 207000006902364
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909040 - 207000006902311
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1724018..1742464)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:180):
ATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGGATTCGGG
GTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGAAACTGAAGTTGCTTCAGAACAGCCCTGAGAAGGGCAGG
GGCAAGGGCCTGACAGAAGAGGAAGTGCTCCTTCCAGAGGGCTCAGCCAGAGCCCCATGGGTGTGCTGGTCAGCAGGAGGGCAGTCGGAGCCTCAAGCCA
TCCATGCCTCTCTCTCCTTACAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTA
CACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGTAC
CTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTGACGCCA
ATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACCCA
GGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATG
GGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGWG
CCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCCA
AGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATG
TCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCCGGGTCT
TTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGAACGTCTGCTT
CAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGA
AAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGC
TCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTSCGATGA
AGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTG
TCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGCAGAGT
CCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCACTGCAT
TGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTG
GATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGC
CAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTGCTCCTG
CTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAG
AGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTG
GCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGGCCTGGGAATT
CAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAG
CCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTC
ACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTCCCACGAGAAG
CGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGCCTCCATCTACACCAAGAACAC
CCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGAGCTAAATGGAGCAGCTACTGC
AGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGAAGGCAGACAT
CCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGTAGGTCCTTGG
CTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACTGGGATCCTTC
CCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAG
CATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTG
GAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTTTGGGGACAAG
CCATCC

Protein Sequence    (SEQ ID NO:877):
MRVKLLLPAAPVLPRQHAGAFISGRDSGWPIPRQAATAPPLPDILSCQKLKLLQNSPEKGRGKGLTEEEVLLPEGSARAPWVCWSAGGQSEPQAIHASLS
LQLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQL
VSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQ
REEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMAL
NPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVV
GFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQ
EALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3866):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1652
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 545, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3867):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 188, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3868):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  825
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 270, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3869):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1270
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 418, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3870):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  2024
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 669, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3871):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1594
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 526, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3872):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3456
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:877, None   



Context             (SEQ ID NO:3873):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2336
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:877, None   



Context             (SEQ ID NO:3874):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  899
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 294, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 294, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 294, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3875):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1445
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:877, 476, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3876):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2621
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:877, None   



Context             (SEQ ID NO:3877):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  2044
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 676, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3878):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1539
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:877, 508, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343631 - 207000006902287
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909034 - 207000006902301
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1733346..1742471)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:181):
AGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGG
ATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCARCTCCTCCCTCC
TCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGCTGGGTTGGGGG
AGCCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACCTCTGCCTTGTGGCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCAT
GTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCCRTCGTGCTGGCCTTGGGTGCGGCAC
TCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAA
TCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGAC
ATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGC
AGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACG
CCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAG
ATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAG
AGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTAC
CCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGCTTCCTCCGT
GTTGCACCCTGTCCGAATTCCCTTCCGCTGCAGGCTGTGACAYTCCATGCATGGAAGGACCATCCTTGACAGGCTGTGTGAGCTGCCCTTCCCCATGCCT
GCCACTTCCAGGGATGACAAGCTGACCCCTGTCCCCACACACCCCACCCTTATAGCTTATTGCTTTGCGTTGGTCCAAAACCACCCGCTCAGCTGAGCCT
CTGGGATGACCAGAGCTGATCACCAGACAGCTCAAGGCGGGCCTCCCCCCTCCTATCTCTTTCCAAGCTAAACACAAGCAGTTCTACATAAATATGTTAT
GGTAA

Protein Sequence    (SEQ ID NO:878):
MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEE
APPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLS
HVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPALMGVGTLMGSGLR
KLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVA
SQTVQSFLRVAPCPNSLPLQAVTFHAWKDHP


SNP Information

Context             (SEQ ID NO:3879):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  737
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:878, 222, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3880):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGG
Celera SNP ID:            hCV25593853
SNP Position Transcript:  476
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:878, 135, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3881):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  983
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:878, 304, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3882):
AGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGCTTCCTCCGTGTTGCACCCTGTCCGAATTCCCTTCCGCTGCAGGCTGTGACA
Y
TCCATGCATGGAAGGACCATCCTTGACAGGCTGTGTGAGCTGCCCTTCCCCATGCCTGCCACTTCCAGGGATGACAAGCTGACCCCTGTCCCCACACACC
Celera SNP ID:            hCV3219439
SNP Position Transcript:  1343
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:878, 424, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:3883):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1057
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:878, 328, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:878, 328, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:878, 328, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3884):
TTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  189
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:878, 39, (N,AAC)   (S,AGC)      



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT9748 - 207000006902321
Public Transcript Accession: NM_007188
Celera Protein:              hCP36831 - 207000006902333
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1723316..1742472)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:182):
GAGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGG
GATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCARCTCCTCCCTC
CTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGCTGGGTTGGGG
GAGCCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACCTCTGCCTTGTGGCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCA
TGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCCRTCGTGCTGGCCTTGGGTGCGGCA
CTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGA
ATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGA
CATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTG
CAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACAC
GCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCA
GATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCA
GAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTA
CCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGC
CAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGG
GGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACT
TCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCC
CACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTC
CTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTSCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGT
TCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCT
TATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGCAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCA
GGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCACTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACAC
ATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGA
AGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCC
TACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTGCTCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCC
AATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGA
CACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAG
GCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGGCCTGGGAATTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTT
CCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTT
CCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGG
CCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTCCCACGAGAAGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTG
TGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGCCTCCATCTACACCAAGAACACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGA
GCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGAGCTAAATGGAGCAGCTACTGCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGG
ACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGAAGGCAGACATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAG
GGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGTAGGTCCTTGGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGC
TGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACTGGGATCCTTCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCC
CTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCT
TTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGA
GTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTTTGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATA
TCCCACTTCCTGACAGATCAGAGGCTGTGTCTTTARGCAGTGGAGGTCCAGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCC
CAGAGTAGGGCCTCAGCTGGCAAGTCCACAAGCCCTGCTGGGGCCCTGCTTGTTGGCCTGACCCCTCCCTCACCAGGCAGCCAGCCAAGGTGGTTCCTGC
TTCACCCACTCAGTCATCAGCCTCAGGCTGCCCAAAATGCCTCTGACACCAGATTTATATCTTCTGGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCC
CCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCGTCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAG
TGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCTACAGTAAATACTTGCAAAGCATGGCACTGTGGC
TCTGGGGAGCTGGTACGCCTGTGCTGTAACCATGGTACTCAGTCCTTCCAAAGTGTTTATTAATCAAGCACCTGTCATGTGCCATTGAGCCCACGATGGG
GAATGAGGACAGTCCCTGCCCCCATGAAGCTTGTGTCCTGTTGGGAGGACAGACAGGTGGCCCAGCA

Protein Sequence    (SEQ ID NO:879):
MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEE
APPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLS
HVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPALMGVGTLMGSGLR
KLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVA
SQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVA
SLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEGYNTVVGERGTTLSGGQK
QRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRT
AAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3885):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1811
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 579, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3886):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  738
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 222, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3887):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGG
Celera SNP ID:            hCV25593853
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 135, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3888):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  984
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 304, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3889):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1429
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 452, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3890):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1753
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 560, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3891):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3615
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3892):
TTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  190
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 39, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3893):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2495
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3894):
ACTAGATGGTGCTTTGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATATCCCACTTCCTGACAGATCAGAGGCTGTGTCTTTA
R
GCAGTGGAGGTCCAGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCCCAGAGTAGGGCCTCAGCTGGCAAGTCCACAAGCCCT
Celera SNP ID:            hCV29193869
SNP Position Transcript:  3836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3895):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1604
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 510, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3896):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2780
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3897):
GCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCGT
C
TTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCTA
Celera SNP ID:            hCV26653804
SNP Position Transcript:  4168
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,8)   total(C,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3898):
GGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCG
T
CTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCT
Celera SNP ID:            hCV26653805
SNP Position Transcript:  4167
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,8)   total(T,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3899):
GGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCC
G
TCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATC
Celera SNP ID:            hCV26653806
SNP Position Transcript:  4166
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,8)   total(G,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:879, None   



Context             (SEQ ID NO:3900):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  2183
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 703, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3901):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 328, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 328, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:879, 328, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3902):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  2203
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 710, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3903):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1698
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:879, 542, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343630 - 207000006902240
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909042 - 207000006902334
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1724018..1742471)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:183):
AGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGG
ATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACA
GATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCAC
CTGCTTATCCTCTATGGTGTCCAGGTAYAGCCGGGAGTGGGGCTGGGGACCGCCGAGGAGCCACCCGAGGCATCCCTGAGTGCACTGGGCTCTTTCGCAG
GGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAAR
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
GGGGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTG
ATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGG
GCAATGTGCGGACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGG
CCGCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAG
CTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGC
TGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGT
TACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTC
GTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGC
GCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGG
GAAGCTGGAAGCTTSCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTC
GGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTA
CCAGCGCGCTGGATGCAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCAC
TGTCCGTGGGGCCCACTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAG
CTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGC
CCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGA
GAGTCGCTGCGGCTGCTCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTC
CCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCA
GACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGT
CTGGAAGTGGGCCTGGGAATTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCA
CTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACA
CAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACA
ATGGCCAGTTCCCACGAGAAGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGC
CTCCATCTACACCAAGAACACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGA
GCTAAATGGAGCAGCTACTGCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACC
TTGAAAGGGGAAGGCAGACATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAA
GGCACACAAGTAGGTCCTTGGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGT
CACTTCCTACTGGGATCCTTCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAAT
GCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGG
TGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACT
AGATGGTGCTTTGGGGACAAGCCATCC

Protein Sequence    (SEQ ID NO:880):
MRVKLLLPAAPVLPRQHAGAFISGRDSGWPIPRQAATAPPLPDILSCQLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQ
VQPGVGLGTAEEPPEASLSALGSFAGTADLRVPGAAVPRWRAHGCGHAEGPLQLPAPTRHHLL


SNP Information

Context             (SEQ ID NO:3904):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  500
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:880, 159, (K,AAA)   (R,AGA)   



Context             (SEQ ID NO:3905):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1573
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3906):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  746
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Context             (SEQ ID NO:3907):
AGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGTA
Y
AGCCGGGAGTGGGGCTGGGGACCGCCGAGGAGCCACCCGAGGCATCCCTGAGTGCACTGGGCTCTTTCGCAGGGACTGCTGACCTTCGGGTACCTGGTGC
Celera SNP ID:            hCV25953164
SNP Position Transcript:  328
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,4)   caucasian(C,32)   total(C,58|T,4)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:880, 102, (Q,CAG)   (X,TAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:880, 102, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:3908):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1191
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Context             (SEQ ID NO:3909):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  1945
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Context             (SEQ ID NO:3910):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1515
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3911):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3377
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3912):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2257
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3913):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  820
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3914):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Context             (SEQ ID NO:3915):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2542
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None   



Context             (SEQ ID NO:3916):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  1965
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Context             (SEQ ID NO:3917):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1460
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:880, None



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343636 - 207000006902209
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909038 - 207000006902307
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1725156..1742471)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:184):
AGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGG
ATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCARCTCCTCCCTCC
TCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGACCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACCTCTGCCTTGTG
GCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCC
ACCTGCTGGTCCTGGGGGTAGCCRTCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGC
CAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTC
GGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTG
ACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTG
CACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACC
CTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTG
TGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTT
GTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGAC
CTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCC
GGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGAACGT
CTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGC
GGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCT
CCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTS
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
ACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATG
CAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCA
CTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAG
GCCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGT
CGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTG
CTCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTC
TGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGAC
GTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTA

Protein Sequence    (SEQ ID NO:881):
MVLSKHPHLCLVALCEAEEAPPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHL
LILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLL
MVATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGG
SLVAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLP
PGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFP
EGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLK
KGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3918):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1758
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 498, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3919):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  685
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 141, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3920):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGG
Celera SNP ID:            hCV25593853
SNP Position Transcript:  424
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 54, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3921):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  931
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 223, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3922):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1376
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 371, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3923):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  2130
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 622, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3924):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1700
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 479, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3925):
TTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGACCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  189
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:881, None   



Context             (SEQ ID NO:3926):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2442
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:881, None   



Context             (SEQ ID NO:3927):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1005
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 247, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 247, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 247, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3928):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1551
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:881, 429, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3929):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  2150
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 629, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3930):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1645
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:881, 461, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343637 - 207000006902250
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909039 - 207000006902309
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1724018..1742451)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:185):
TGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGGATTCGGGGTGGCCCATTCCC
AGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTAAAAACGGAAAAACCTACTCAGMGCGGGCCATTGACCGCCCGGCAGGGCA
GTGCCGGCCCGCCGGGAGATGGAGTCCACGAGCTTGCGCGAGGCTTGCTGGGAGCTGTAGGCCAGGCCTACCGGGGTGGAATGTCACTCCGCGGGTGTTG
GCCTCAATTATTTATAGTGACACTCCAGTCGCCAGCAGGAGGCTCCTGCGTCTGCAGCCGCGTGTCAGCCAGAAGGAGGGGACGCTCGGGGTCAGTGACC
ACGCCCAGTCCGCACTCCCGACYGGGGGTCCCCTTTCCTGGCCCTGGAGGTGATTGCGCGATTTGGACGAAAATTCTTATTAGTATGAAGAGACATTTAA
TGTAGTGGTGCTTCCAGGATTCAAACTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAG
TACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGT
ACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTGACGC
CAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACC
CAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGA
TGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
WGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTC
CAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCA
TGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCCGGGT
CTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGAACGTCTGC
TTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAG
GAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTG
GCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTSCGAT
GAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCC
TGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGCAGA
GTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCACTGC
ATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCC
TGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCT
GCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTGCTCC
TGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCC
AGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTC
TGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGGCCTGGGAA
TTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGG
AGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATT
TCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTCCCACGAGA
AGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGCCTCCATCTACACCAAGAAC
ACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGAGCTAAATGGAGCAGCTACT
GCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGAAGGCAGAC
ATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGTAGGTCCTT
GGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACTGGGATCCT
TCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCA
AGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCC
TGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTTTGGGGACA
AGCCATCC

Protein Sequence    (SEQ ID NO:882):
MTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSL
SMLSTRLTLLLMVATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFN
CMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGF
EVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAARE
ANAHEFITSFPEGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRV
WEAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3931):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1854
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 409, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3932):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 52, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3933):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  1027
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 134, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3934):
CTCCAGTCGCCAGCAGGAGGCTCCTGCGTCTGCAGCCGCGTGTCAGCCAGAAGGAGGGGACGCTCGGGGTCAGTGACCACGCCCAGTCCGCACTCCCGAC
Y
GGGGGTCCCCTTTCCTGGCCCTGGAGGTGATTGCGCGATTTGGACGAAAATTCTTATTAGTATGAAGAGACATTTAATGTAGTGGTGCTTCCAGGATTCA
Celera SNP ID:            hCV3219445
SNP Position Transcript:  423
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,7)   total(C,7|T,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:882, None   



Context             (SEQ ID NO:3935):
GGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTAAAAACGGAAAAACCTACTCAG
M
GCGGGCCATTGACCGCCCGGCAGGGCAGTGCCGGCCCGCCGGGAGATGGAGTCCACGAGCTTGCGCGAGGCTTGCTGGGAGCTGTAGGCCAGGCCTACCG
Celera SNP ID:            hCV3219446
SNP Position Transcript:  173
SNP Source:               Applera
Population(Allele,Count): african american(A,4|C,2)   caucasian(A,22|C,10)   total(A,26|C,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:882, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,7)      total(A,7|C,2) ;JBIC-allele(C,465|A,1035)   total(A,1035|C,465)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:882, None   



Context             (SEQ ID NO:3936):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1472
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 282, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3937):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  2226
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 533, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3938):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1796
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 390, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3939):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3658
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:882, None   



Context             (SEQ ID NO:3940):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2538
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:882, None   



Context             (SEQ ID NO:3941):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1101
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 158, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 158, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 158, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3942):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1647
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:882, 340, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3943):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2823
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:882, None   



Context             (SEQ ID NO:3944):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  2246
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 540, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3945):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1741
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:882, 372, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343633 - 207000006902340
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909035 - 207000006902304
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1724018..1729378)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:186):
TCTAGAGAAGCCTATAGTGGAGGTGCTGAGCTGCAGCCGTTCTCCCTCTGCTTGAGGTGGCACTGCCCAGCGAGGGTCCACCCTTCCCTTTGAGGGCCGT
GAATGAAGAGGGCATGCCTGCTGTCCGCCAGGGAGAGTGCCTGTGCAGAAGAAAGGCAAATGCAAGCCCCCAACTCCCAGCGCCCTGCCCTGCCAGCTCC
TCCCACTCCCACTCCTGGGGAGGGATTCTGGGCCCTTGGTAGGAAGTCGAACTGTCCTTCCCTTTTGGGGGCCACTCTGCATCCTCACTTCACCTCTGAC
TTTGAACGTCTGATTCTTCAAGAGATCCTAATCTAATCCACCAGATAGACTGTCCCATTGTGTATGGTGGCCCCTCCAGTTTCTGGGGCAAAGAGAATGT
TTCTATGGACTCTGTCTCCATAACCCCTCACCCACAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTSC
GATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTA
CCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGC
AGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCAC
TGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGG
CCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTC
GCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTGC
TCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCT
GCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACG
TTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGGCCTGG
GAATTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGA
AGGAGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAG
ATTTCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTCCCACG
AGAAGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGCCTCCATCTACACCAAG
AACACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGAGCTAAATGGAGCAGCT
ACTGCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGAAGGCA
GACATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGTAGGTC
CTTGGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACTGGGAT
CCTTCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAG
GCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCA
GCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTTTGGGG
ACAAGCCATCC

Protein Sequence    (SEQ ID NO:883):
MDSVSITPHPQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAE
SERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3946):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  557
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:883, 51, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3947):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  929
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:883, 175, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3948):
GTTTCTATGGACTCTGTCTCCATAACCCCTCACCCACAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  499
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:883, 32, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3949):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  2361
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:883, None   



Context             (SEQ ID NO:3950):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  1241
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:883, None   



Context             (SEQ ID NO:3951):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  1526
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:883, None   



Context             (SEQ ID NO:3952):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  949
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:883, 182, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3953):
GATAGACTGTCCCATTGTGTATGGTGGCCCCTCCAGTTTCTGGGGCAAAGAGAATGTTTCTATGGACTCTGTCTCCATAACCCCTCACCCACAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  444
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:883, 14, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343635 - 207000006902299
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909041 - 207000006902313
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1733347..1742432)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:187):
CTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCC
CTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCARCTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCC
ACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGCTGGGTTGGGGGAGCCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCA
CCTCTGCCTTGTGGCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAG
TTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCCRTCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGG
TAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGG
ACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARAC
ATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGG
GGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGAT
GGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGC
AATGTGCGGACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCC
GCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCT
GACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGCTGTGACAYTCCATGCATGGAAGGACCATCCTTGACAGGCTGTGTGAG
CTGCCCTTCCCCATGCCTGCCACTTCCAGGGATGACAAGCTGACCCCTGTCCCCACACACCCCACCCTTATAGCTTATTGCTTTGCGTTGGTCCAAAACC
ACCCGCTCAGCTGAGCCTCTGGGATGACCAGAGCTGATCACCAGACAGCTCAAGGCGGGCCTCCCCCCTCCTATCTCTTTCCAAGCTAAACACAAGCAGT
TCTACATAAATATGTTATGGTA

Protein Sequence    (SEQ ID NO:884):
MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEE
APPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLS
HVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPALMGVGTLMGSGLR
KLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVA
SQTVQRL


SNP Information

Context             (SEQ ID NO:3954):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  698
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:884, 222, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3955):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGG
Celera SNP ID:            hCV25593853
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:884, 135, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3956):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  944
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:884, 304, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3957):
CCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGCTGTGACA
Y
TCCATGCATGGAAGGACCATCCTTGACAGGCTGTGTGAGCTGCCCTTCCCCATGCCTGCCACTTCCAGGGATGACAAGCTGACCCCTGTCCCCACACACC
Celera SNP ID:            hCV3219439
SNP Position Transcript:  1261
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,7)   total(C,1|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:884, None   



Context             (SEQ ID NO:3958):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1018
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:884, 328, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:884, 328, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:884, 328, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3959):
TTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  150
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:884, 39, (N,AAC)   (S,AGC)      



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343629 - 207000006902229
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909036 - 207000006902305
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1723316..1742471)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:188):
AGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGG
ATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACA
GATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCAC
CTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCC
TCTTCAGCTCCCTGCTCCGACAARACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTC
ATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTG
CTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAA
TGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTG
CCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGG
GGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCC
TGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCC
CAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTG
CCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGG
TGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGAC
CATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTSCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTC
CCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCA
CGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGCAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCT
GGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCACTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTG
AAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCC
ACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAG
CCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCGGCTGCTCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCC
CTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTAT
TCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTC
CAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGGCCTGGGAATTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGA
CTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCC
TCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGT
CAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTCCCACGAGAAGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTT
CACCCACTGAGATTGTGAACCAGCCTCCATCTACACCAAGAACACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCT
GCCCACAGTGCTGACGAGTACAGAGCTAAATGGAGCAGCTACTGCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCC
CCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGAAGGCAGACATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCA
GCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGTAGGTCCTTGGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAG
CCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACTGGGATCCTTCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGC
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
RCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGG
CTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTTTGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATATCCCACTTCCTGAC
AGATCAGAGGCTGTGTCTTTARGCAGTGGAGGTCCAGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCCCAGAGTAGGGCCTC
AGCTGGCAAGTCCACAAGCCCTGCTGGGGCCCTGCTTGTTGGCCTGACCCCTCCCTCACCAGGCAGCCAGCCAAGGTGGTTCCTGCTTCACCCACTCAGT
CATCAGCCTCAGGCTGCCCAAAATGCCTCTGACACCAGATTTATATCTTCTGGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGT
GAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCGTCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGC
CTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCTACAGTAAATACTTGCAAAGCATGGCACTGTGGCTCTGGGGAGCTGGT
ACGCCTGTGCTGTAACCATGGTACTCAGTCCTTCCAAAGTGTTTATTAATCAAGCACCTGTCATGTGCCATTGAGCCCACGATGGGGAATGAGGACAGTC
CCTGCCCCCATGAAGCTTGTGTCCTGTTGGGAGGACAGACAGGTGGCCCAGCA

Protein Sequence    (SEQ ID NO:885):
MRVKLLLPAAPVLPRQHAGAFISGRDSGWPIPRQAATAPPLPDILSCQLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQ
GLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPAL
MGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQ
LTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVAL
VGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEGYNTVV
GERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAE
LIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3960):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1497
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 491, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3961):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  424
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 134, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3962):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  670
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 216, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3963):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1115
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 364, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3964):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1439
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 472, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3965):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3301
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3966):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3967):
ACTAGATGGTGCTTTGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATATCCCACTTCCTGACAGATCAGAGGCTGTGTCTTTA
R
GCAGTGGAGGTCCAGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCCCAGAGTAGGGCCTCAGCTGGCAAGTCCACAAGCCCT
Celera SNP ID:            hCV29193869
SNP Position Transcript:  3522
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3968):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1290
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 422, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3969):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2466
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3970):
GCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCGT
C
TTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCTA
Celera SNP ID:            hCV26653804
SNP Position Transcript:  3854
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,8)   total(C,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3971):
GGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCG
T
CTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCT
Celera SNP ID:            hCV26653805
SNP Position Transcript:  3853
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,8)   total(T,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3972):
GGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCC
G
TCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATC
Celera SNP ID:            hCV26653806
SNP Position Transcript:  3852
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,8)   total(G,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:885, None   



Context             (SEQ ID NO:3973):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  1869
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 615, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3974):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  744
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 240, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 240, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:885, 240, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3975):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  1889
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 622, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3976):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1384
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:885, 454, (I,ATC)   (V,GTC)   



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT2343632 - 207000006902335
Public Transcript Accession: NM_007188
Celera Protein:              hCP1909037 - 207000006902306
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1736587..1742471)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:189):
AGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGG
ATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCARCTCCTCCCTCC
TCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGCTGGGTTGGGGG
AGCCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACCTCTGCCTTGTGGCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCAT
GTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCCRTCGTGGTGAGGCTTTCCCCACTTC
TCCATCCTGGGGACAGGGCAGGACCCAGAGCTGCAAAGGGATGGCATTCCTGCCTCGCTGCCTCTCAGGGGAGAGCTCAGGGGAGCAGCAAGGGCTAGCC
AGGGGTCCAGGGGTGCCAGGAGCATCAACACTGGGTGGCTGGGTGGGCAGGGTTCCGTGGGGACTGGAAGCCAGGGTTTGAACCTCTGAGAGGCACTGAT
GTGTCCACATGACCAGCCACAACCTGGACAAGCGCAGTGCTCAGTAGTGGGAGAGGAAGGGCCAAGATCTGGCTGGGGATGGGGAGGAGTGGCTCCCCCA
CTTAAAACATTTGTSCCCTCTGTCTCCCCATTCCAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTG

Protein Sequence    (SEQ ID NO:886):
MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEE
APPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVVRLSPLLHPGDRAGPRAAKGWHSCLAASQGRAQGSSKG


SNP Information

Context             (SEQ ID NO:3977):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGGTGAGGCTTTCCCCACTTCTCCATCCTGGGGACAGGGCAGGACCCAGAGCTGCAAAGGGATGGCATTCCTGCCTCGCTGCCTCTCAGGGGAGAGC
Celera SNP ID:            hCV25593853
SNP Position Transcript:  476
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:886, 135, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3978):
AGCCACAACCTGGACAAGCGCAGTGCTCAGTAGTGGGAGAGGAAGGGCCAAGATCTGGCTGGGGATGGGGAGGAGTGGCTCCCCCACTTAAAACATTTGT
S
CCCTCTGTCTCCCCATTCCAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTG
Celera SNP ID:            hCV15972934
SNP Position Transcript:  815
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,2)   caucasian(C,15|G,9)   total(C,25|G,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:886, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(G,364|C,1092)   total(G,364|C,1092)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:886, None   



Context             (SEQ ID NO:3979):
TTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  189
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:886, 39, (N,AAC)   (S,AGC)      



Gene Number:                 79
Celera Gene:                 hCG18685 - 207000006902319
Celera Transcript:           hCT1952011 - 207000006902370
Public Transcript Accession: NM_007188
Celera Protein:              hCP1766038 - 207000006902303
Public Protein Accession:    NP_009119
Gene Symbol:                 ABCB8
Protein Name:                ATP-binding cassette, sub-family B (MDR/TAP), member 8;EST328128;M-ABC1;MABC1
Celera Genomic Axis:         GA_x5YUV32VSYK(1723316..1742472)
Chromosome:                  Chr7
OMIM number:                 605464
OMIM Information:            ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8;ABCB8


Transcript Sequence (SEQ ID NO:190):
GAGCCAACATAGAGCCCTCAGTGGGATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGG
GATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGAAACACATGGCGTAATGGGAAAACTGGACAG
TTACACAAGGCAGAAGGAGAGTACTCTGATGGCTACCGCARCTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTC
GAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGCTGGGTTGGGGGAGCCCTGCTAGGCCCCATGGTACTGAGTAAGCATCCCCACCTCTGCCT
TGTGGCCCTGTGTGAGGCAGAAGAGGCCCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCAC
CCCCACCTGCTGGTCCTGGGGGTAGCCRTCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCG
TGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGAC
CTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAARACATCACCTTC
TTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAA
GCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGG
CACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTYGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGG
ACTGTGCGWGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCG
CCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGG
AGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGT
GCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCKTGGCTCCGTTACATTTCAGA
ACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTC
TGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACRGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGAC
CCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCRTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAG
CTTSCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGYTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGG
CACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTG
GATGCAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGG
CCCACTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAG
GCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCMCCGCCCAAAAAGCCAGAAGKCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTG
TGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTACTGGGGACTGAGCCCCCAGGAGGGCCAGCATGTGGAGAGTCGCTGCG
GCTGCTCCTGCTCACAATAAAGCCGGGGCCGAGCAGCTGGCAGGGGAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAG
AGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCCMCGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAG
AGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTGGCCAGGCCTACAGTAGCTCCAGGGAATTTTTAAAAATCAGGGTCTGGAAGTGGG
CCTGGGAATTCAAACCTAGGCTCTTCCCACACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATG
GGAGAAGGAGCCTATCCCCTGGCTCACCCCRGGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATT
TCTAGATTTCACCTCCCCTCCCCACCCACAAGGGACACAGGCCTAACAGGGCCCAACACTTGGGTCAGGGTAGGAGGGACGGGGCCACAATGGCCAGTTC
CCACGAGAAGCGCCAGCCTGCCTGGCTGTCTTCCACCGGCCCTGCCCTGTGTGCCTGGCGTCTTTCACCCACTGAGATTGTGAACCAGCCTCCATCTACA
CCAAGAACACCCAGCACTGAAGGAGATGGGAGGGGCTGATGCCCACCTGGAGCTCTCTGCTTCCTGCCCACAGTGCTGACGAGTACAGAGCTAAATGGAG
CAGCTACTGCAGAATCCAGTACAGAATCGGTCCAGGAGGGTGCGGCTGTGGACAGGCCAGCATCCCCAGCAGGTTCTGGGAGGCGCACCTTGAAAGGGGA
AGGCAGACATCCTGAGTGATGGGCGCCTGTGGCCCTGAGACTGTGGATGAGGGGGCTAGGCTCCAGCTGGCTTCTGAGGGGCCTGGAAAGGCACACAAGT
AGGTCCTTGGCTGAACTGGTGCCCCAGCAGGACCTCGTGTCCCTGCACTGCTGCAGATGCATCAGCCCTCCCCATGTTGGTGCCGCTGTCACTTCCTACT
GGGATCCTTCCCCTATCCAGCCACATCCAGGCTGTGGGACTACACGGTGCCCTGTTCCCCTGGGCAGGAGAAGAGGTGGTACCTGCAATGCACCTTCACA
GCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGATRCAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGA
GGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGCTCTTGTGGGTGTGGTTTAGAACTAGATGGTGCTT
TGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATATCCCACTTCCTGACAGATCAGAGGCTGTGTCTTTARGCAGTGGAGGTCC
AGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCCCAGAGTAGGGCCTCAGCTGGCAAGTCCACAAGCCCTGCTGGGGCCCTGC
TTGTTGGCCTGACCCCTCCCTCACCAGGCAGCCAGCCAAGGTGGTTCCTGCTTCACCCACTCAGTCATCAGCCTCAGGCTGCCCAAAATGCCTCTGACAC
CAGATTTATATCTTCTGGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGA
CCGCAGGAGCCGCGCCGTCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGA
GTGTGAGTGGGATCATCTACAGTAAATACTTGCAAAGCATGGCACTGTGGCTCTGGGGAGCTGGTACGCCTGTGCTGTAACCATGGTACTCAGTCCTTCC
AAAGTGTTTATTAATCAAGCACCTGTCATGTGCCATTGAGCCCACGATGGGGAATGAGGACAGTCCCTGCCCCCATGAAGCTTGTGTCCTGTTGGGAGGA
CAGACAGGTGGCCCAGCA

Protein Sequence    (SEQ ID NO:887):
MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRNTWRNGKTGQLHKAEGEYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMV
LSKHPHLCLVALCEAEEAPPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLI
LYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMV
ATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSL
VAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPG
KIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEG
YNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKG
GLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS


SNP Information

Context             (SEQ ID NO:3980):
CGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAG
Y
TTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGC
Celera SNP ID:            hCV11631018
SNP Position Transcript:  1862
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 596, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:3981):
GGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAA
R
ACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCA
Celera SNP ID:            hCV25593861
SNP Position Transcript:  789
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,30)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 239, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:3982):
CCCTCCTGCCAGCTCCACACCCCATGTCGTGGGGTCTCGCTTTAACTGGAAGCTCTTCTGGCAGTTTCTGCACCCCCACCTGCTGGTCCTGGGGGTAGCC
R
TCGTGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGG
Celera SNP ID:            hCV25593853
SNP Position Transcript:  528
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,2|G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 152, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:3983):
GTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCT
Y
GCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGA
Celera SNP ID:            hCV25593870
SNP Position Transcript:  1035
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,35|T,3)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 321, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:3984):
GTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGC
K
TGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATC
Celera SNP ID:            hCV25593872
SNP Position Transcript:  1480
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,28)   total(G,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 469, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:3985):
TCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTT
S
CGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACT
Celera SNP ID:            hCV15972945
SNP Position Transcript:  1804
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 577, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:3986):
AGGAGAAGAGGTGGTACCTGCAATGCACCTTCACAGCCAGGCAAGCATTCTGGATTTACCCTGTGTAAAGAAGGGTGGTACCCTCTTTCAGGGGTGTGAT
R
CAGTGCATTGATGGAGCAGCTGGTGCTGCTGGGAGGCCAGCCTGGAAGAGGCAGCAGTGGCTCAAGTTTGCGTGCAGGAGCCAGAGTGGGACCCACGGGC
Celera SNP ID:            hCV29193870
SNP Position Transcript:  3666
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3987):
CTCCGCTTCCAGACATTCTCAGCTGTCAGAAACACATGGCGTAATGGGAAAACTGGACAGTTACACAAGGCAGAAGGAGAGTACTCTGATGGCTACCGCA
R
CTCCTCCCTCCTCCGGGCCGTGGCCCACCTGCGGTCCCAGCTCTGGGCCCACCTCCCTCGAGCCCCCCTAGCTCCCAGATGGAGCCCCTCTGCCTGGTGC
Celera SNP ID:            hCV29193872
SNP Position Transcript:  241
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 56, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:3988):
GAGGCCAATCCCTCCCTCCCCTCCCCAGTCCTGCCGGCTGCCTCCCTCCCACCAGAGTCTGCCAGAGTCATTGGGCTGCAATGGGCAGAGACAGAGTTCC
M
CGAGACACCTCCACTCTATTCTCCCTTTGCCCAGACCCCTCCAGACCTCTCAAGAGACGTTCTGGCCAGTCTCCCTGCCCCACCCAGCAGCTTCAAATTG
Celera SNP ID:            hCV7599618
SNP Position Transcript:  2546
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3989):
ACTAGATGGTGCTTTGGGGACAAGCCATCCAAAAACCCCAGGCCCACATCCACCCTGATTTGATATCCCACTTCCTGACAGATCAGAGGCTGTGTCTTTA
R
GCAGTGGAGGTCCAGGAGCAGAGCCTGGGGCTGGTTCACAGCTAAACCCCTCCTTAGGGCAGCCCAGAGTAGGGCCTCAGCTGGCAAGTCCACAAGCCCT
Celera SNP ID:            hCV29193869
SNP Position Transcript:  3887
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3990):
CCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCAC
R
GCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGT
Celera SNP ID:            hCV25953216
SNP Position Transcript:  1655
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,34)   total(A,1|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 527, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:3991):
ACCCTTGCTAGGACCTCACTTCCCTAGACTGGCGACTGACTCCCTCTCCTGTGTCCCCACTCCCTCCATGGGAGAAGGAGCCTATCCCCTGGCTCACCCC
R
GGACCCACAGTCCCCATCTTCCAAACAACCTCCCTCCTTTCTCCCTGCACAGTGAACACAGTCCTGATTTCTAGATTTCACCTCCCCTCCCCACCCACAA
Celera SNP ID:            hCV3216744
SNP Position Transcript:  2831
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,11)      total(G,11|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3992):
GCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCGT
C
TTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCTA
Celera SNP ID:            hCV26653804
SNP Position Transcript:  4219
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,8)   total(C,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3993):
GGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCCG
T
CTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATCT
Celera SNP ID:            hCV26653805
SNP Position Transcript:  4218
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,8)   total(T,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3994):
GGGCGGCTTCTTTAAATCCAGCCCTTCACCCGCCCCCTAGAGAAGCAGTGAAACCCCTTGGCTAGTCCAGCTGGAAGAGCTAGACCGCAGGAGCCGCGCC
G
TCTTCCTAACCTCGCCTCGGCCTTCGCTCCACAGTGGAGAGTGGGAGCCTAGCTGTGCTTGATGCTGAATGCCTGTTTTGAGAGTGTGAGTGGGATCATC
Celera SNP ID:            hCV26653806
SNP Position Transcript:  4217
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,8)   total(G,8|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:887, None   



Context             (SEQ ID NO:3995):
TCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCC
M
CCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGG
Celera SNP ID:            hCV25951910
SNP Position Transcript:  2234
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,37|C,3)   total(A,68|C,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 720, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:3996):
TGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCG
W
GCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCC
Celera SNP ID:            hCV2951304
SNP Position Transcript:  1109
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,24)   caucasian(A,10|T,28)   total(A,20|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 345, (R,CGA)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,4)   caucasian(A,6|T,22)   total(A,10|T,26)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 345, (R,CGA)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,9)      total(A,4|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:887, 345, (R,CGA)   (R,CGT)      



Context             (SEQ ID NO:3997):
GAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAG
K
CCCCAGGAGCCACCAGCACAAGTCCTGAGAAGGGCCCCCTGAGGTGTGGTCGCTGCCAAGCATCAGTGTTAGGGCTGGGGCTCAGCCTGGGGGAGCCTAC
Celera SNP ID:            hCV25951871
SNP Position Transcript:  2254
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(G,37|T,1)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 727, (G,GGC)   (V,GTC)   



Context             (SEQ ID NO:3998):
CCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCC
R
TCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGA
Celera SNP ID:            hCV25593852
SNP Position Transcript:  1749
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,29)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:887, 559, (I,ATC)   (V,GTC)   



Gene Number:                 80
Celera Gene:                 hCG18905 - 63000132530418
Celera Transcript:           hCT9969 - 63000132530419
Public Transcript Accession: NM_002796
Celera Protein:              hCP36681 - 197000069373044
Public Protein Accession:    NP_002787
Gene Symbol:                 PSMB4
Protein Name:                proteasome (prosome, macropain) subunit, beta type, 4;HN3;HsN3;PROS26
Celera Genomic Axis:         GA_x5YUV32VSLS(9988014..9990405)
Chromosome:                  Chr1
OMIM number:                 602177
OMIM Information:            PROTEASOME SUBUNIT, BETA-TYPE, 4;PSMB4


Transcript Sequence (SEQ ID NO:191):
GGCGCAAGCGCTTTCATTTTTTYTGCTACCGTGACTAAGATGGAAGCGTTTTTGGGGTCGCGGTCCGGACTTTGGGCGGGGGGTCCGGCCCCAGGACAGT
TTTACCGCATTCCRTCCACTCCCGATTCCTTCATGGATCCGGCGTCTGCACTTTACAGAGGTCCAATCACGCGGACCCAGAACCCCATGGTGACCGGGAC
CTCAGTCCTCGGCGTTAAGTTCGAGGGCGGAGTGGTGATTGCCGCAGACATGCTGGGATCCTACGGCTCCTTGGCTCGTTTCCGCAACATCTCTCGCATT
ATGCGAGTCAACAACAGTACCATKCTGGGTGCCTCTGGCGACTACGCTGATTTCCAGTATTTGAAGCAAGTTCTCGGCCAGATGGTGATTGATGAGGAGC
TTCTGGGAGATGGACACAGCTATAGTCCTAGAGCTATTCATTCATGGCTGACCAGGGCCATGTACAGCCGGCGCTCGAAGATGWACCCYTTGTGGAACAC
CATGGTCATCGGAGGCTATGCTGATGGAGAGAGCTTCCTCGGTTATGTGGACATGCTTGGTGTAGCCTATGAAGCCCCTTCRCTGGCCACTGGTTATGGT
GCATACTTGGCTCAGCCTCTGCTGCGAGAAGTTCTGGAGAAGCAGCCAGTGCTAAGCCAGACCGAGGCCCGCGACTTAGTAGAACGCTGCATGCGAGTGC
TGTACTACCGAGATGCCCGTTCTTACAACCGGTTTCAAAYCGCCACTGTCACCGAAAAAGGTGTTGAAATAGAGGGACCATTGTCTACAGAGACCAACTG
GGATATTGCCCACATGATCAGTGGCTTTGAATGAAATACAGATGCATTATCCAGAAMTGAAGTTGCCCTACTTTTAACTTTGAACTTGGCTAGTTCAAAG
ATAGACTCTTCTTTTGTAAAGTAAATAAATTCTTCAAAATGCTT

Protein Sequence    (SEQ ID NO:888):
MEAFLGSRSGLWAGGPAPGQFYRIPSTPDSFMDPASALYRGPITRTQNPMVTGTSVLGVKFEGGVVIAADMLGSYGSLARFRNISRIMRVNNSTMLGASG
DYADFQYLKQVLGQMVIDEELLGDGHSYSPRAIHSWLTRAMYSRRSKMNPLWNTMVIGGYADGESFLGYVDMLGVAYEAPSLATGYGAYLAQPLLREVLE
KQPVLSQTEARDLVERCMRVLYYRDARSYNRFQTATVTEKGVEIEGPLSTETNWDIAHMISGFE


SNP Information

Context             (SEQ ID NO:3999):
AGGGCGGAGTGGTGATTGCCGCAGACATGCTGGGATCCTACGGCTCCTTGGCTCGTTTCCGCAACATCTCTCGCATTATGCGAGTCAACAACAGTACCAT
K
CTGGGTGCCTCTGGCGACTACGCTGATTTCCAGTATTTGAAGCAAGTTCTCGGCCAGATGGTGATTGATGAGGAGCTTCTGGGAGATGGACACAGCTATA
Celera SNP ID:            hCV8719300
SNP Position Transcript:  324
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:888, 95, (M,ATG)   (I,ATT)      



Context             (SEQ ID NO:4000):
AAAGGTGTTGAAATAGAGGGACCATTGTCTACAGAGACCAACTGGGATATTGCCCACATGATCAGTGGCTTTGAATGAAATACAGATGCATTATCCAGAA
M
TGAAGTTGCCCTACTTTTAACTTTGAACTTGGCTAGTTCAAAGATAGACTCTTCTTTTGTAAAGTAAATAAATTCTTCAAAATGCTT
Celera SNP ID:            hCV8719310
SNP Position Transcript:  857
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:888, None   



Context             (SEQ ID NO:4001):
TGAACCCTTTGTGGAACACCATGGTCATCGGAGGCTATGCTGATGGAGAGAGCTTCCTCGGTTATGTGGACATGCTTGGTGTAGCCTATGAAGCCCCTTC
R
CTGGCCACTGGTTATGGTGCATACTTGGCTCAGCCTCTGCTGCGAGAAGTTCTGGAGAAGCAGCCAGTGCTAAGCCAGACCGAGGCCCGCGACTTAGTAG
Celera SNP ID:            hCV8719305
SNP Position Transcript:  582
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:888, 181, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:4002):
GGTGATTGATGAGGAGCTTCTGGGAGATGGACACAGCTATAGTCCTAGAGCTATTCATTCATGGCTGACCAGGGCCATGTACAGCCGGCGCTCGAAGATG
W
ACCCTTTGTGGAACACCATGGTCATCGGAGGCTATGCTGATGGAGAGAGCTTCCTCGGTTATGTGGACATGCTTGGTGTAGCCTATGAAGCCCCTTCGCT
Celera SNP ID:            hCV27483695
SNP Position Transcript:  484
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:888, 149, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:4003):
TTGATGAGGAGCTTCTGGGAGATGGACACAGCTATAGTCCTAGAGCTATTCATTCATGGCTGACCAGGGCCATGTACAGCCGGCGCTCGAAGATGAACCC
Y
TTGTGGAACACCATGGTCATCGGAGGCTATGCTGATGGAGAGAGCTTCCTCGGTTATGTGGACATGCTTGGTGTAGCCTATGAAGCCCCTTCGCTGGCCA
Celera SNP ID:            hCV11489569
SNP Position Transcript:  489
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:888, 150, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4004):
TCATTTTTTCTGCTACCGTGACTAAGATGGAAGCGTTTTTGGGGTCGCGGTCCGGACTTTGGGCGGGGGGTCCGGCCCCAGGACAGTTTTACCGCATTCC
R
TCCACTCCCGATTCCTTCATGGATCCGGCGTCTGCACTTTACAGAGGTCCAATCACGCGGACCCAGAACCCCATGGTGACCGGGACCTCAGTCCTCGGCG
Celera SNP ID:            hCV8719299
SNP Position Transcript:  114
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,20)   caucasian(A,31|G,9)   total(A,47|G,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:888, 25, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIC-allele(A,306|G,1169)   total(G,1169|A,306)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:888, 25, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4005):
AAGCAGCCAGTGCTAAGCCAGACCGAGGCCCGCGACTTAGTAGAACGCTGCATGCGAGTGCTGTACTACCGAGATGCCCGTTCTTACAACCGGTTTCAAA
Y
CGCCACTGTCACCGAAAAAGGTGTTGAAATAGAGGGACCATTGTCTACAGAGACCAACTGGGATATTGCCCACATGATCAGTGGCTTTGAATGAAATACA
Celera SNP ID:            hCV8719309
SNP Position Transcript:  740
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,8|T,32)   total(C,9|T,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:888, 234, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(C,2|T,20)   total(C,2|T,50)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:888, 234, (T,ACC)   (I,ATC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:888, 234, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:4006):
GGCGCAAGCGCTTTCATTTTTT
Y
TGCTACCGTGACTAAGATGGAAGCGTTTTTGGGGTCGCGGTCCGGACTTTGGGCGGGGGGTCCGGCCCCAGGACAGTTTTACCGCATTCCGTCCACTCCC
Celera SNP ID:            hCV16185026
SNP Position Transcript:  23
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:888, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,457|C,472)   total(C,472|T,457) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:888, None   



Gene Number:                 81
Celera Gene:                 hCG18962 - 64000127257053
Celera Transcript:           hCT2295282 - 64000127257098
Public Transcript Accession: NM_003949
Celera Protein:              hCP1812088 - 197000064954729
Public Protein Accession:    NP_003940
Gene Symbol:                 HAP1
Protein Name:                huntingtin-associated protein 1 (neuroan 1);HAP2;HIP5;HLP;hHLP1
Celera Genomic Axis:         GA_x5YUV32VU68(3401194..3413299)
Chromosome:                  Chr17
OMIM number:                 600947
OMIM Information:            HUNTINGTIN-ASSOCIATED PROTEIN 1;HAP1


Transcript Sequence (SEQ ID NO:192):
CWGACTCGAGATGCGCCCGARGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTRTGCACCTTCGCCCTCA
GCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAWCCCAGTTCCTCTCGGAAG
CCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCC
CGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAG
ACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTC
CGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGCTGGAGGAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTC
CCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCCCTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTG
AACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGG
AAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCCTAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACA
GCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAG
ATGCTCATTCTGGAGTGTGTGGAGCAGTTTTYGGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGC
AGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGTATGGGGCTGAGACTGAAAAGTTKCAGAAGCAGCTGGC
TTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTGYGGGAGAAGTACATGGATTGTGGGGGCATG
CTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCRGTGTCCACTGGGTCTGCCACCCATTACCCATACAGYGTGCCTCTGGAGACTC
TTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAAYGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCC
CAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCG
GATATCATGCGGGGGGAAGATTTCACGCCTGYGGAGGAGTTSGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCRGCTGAGGAAGGGGTGATGG
AAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGA
GGCCAGCGGCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAG
ATGCTCCAGAAAGGTGAGTGCCCCCACRGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATMGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCC
CCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATCATTTGCATAGACACCTCTGATCCCCTTCAGTGGGA
ACCGTAGTGTCAGTGCTCATTTATGTGGCATTTGCTTAGGATTCCAGATCTCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTG
TGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTRCCCCCAACCCCTGCCTCCTCTATMCCCCAGGCTCTCCAACTCTGCAGCA
GTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCTGGAGGACAGGACCAGCCACCCTCCC
ACGGCCTGGGAGGAAGAGAGGCCTTCTGGGACTGCCCAGGCTATGGGGACAAAGGCCTTCACCAGCAAGGGCCACAGTTGGAACAGTCCCCTGGGTGTCA
GAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCTKCCGAGTGCA
GGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAGCTCCCATCA
GCCTCATTCCGTGGCAGGTGATGTGTCCCCATTGGTTAGGTGAGGAGGGTGAGGCTCAGAGAGCTAAGGACACTTGTTTGGGGCCACACAGCCGGGGTAG
ATCTGAGCCCGTCCTCTCTACTCCTGTGCTGTAGCACCTTCACTGGCCCATCCCTCCCCTCTAGTGCTGTCCTGGTACCCGTCCCAGCCTGTCCCCATTC
TCATGGCCCTTTGGTCACTGCCGGGTGGAATAGCACTGGCTTCAGCAGGCGTGTCATGTAAGCTTGTGCAGGTTATAAACTGAACCATGACCTTTATGGC
GCATGCAGGGGGCAACCTGCATAATTATCAATGGCGACTTTCCGTGTCCTTCTGATACAGTTGATCAGACCCCTGCCCACCGCCCAGGCCAGGCCTGTGG
TCATCAATGCCCCAGTTCACATCCACCTGCTTCTCTTCCAGGCTTTGCTGTTCCCCAGCAGCCTGCAGAGGCCCCACAGACAGCTTGAGGCCCCTCCTGC
TGCCTGGCCAAGCCCCACACCCGCAGACCCTCCTTCCCATCCTCTGAAATGGGACCCTGTGTCTGTCACCAGCCCACCCTCTGTGTTCATGAACCTGGGC
TGGAGCTTGGGGACCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTA
GGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGYCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCR
CTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATG
CCCATGCTAATGGTAGCCACCCTGGTTCTTGTTGACTTGAGGGACCTGGCTGTCTTCCCTGTTCTTCATCCTTTCTTCTCAGTCCCTACCTACTGTTTGT
AACCACAAGTGTCTCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTC
CAGGCTCCCATCCRTGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTT
GTTCCTCAATAGCTGGGGGCTGGGACTGAGGCCTCCTGCAGGTACCTGCCCCCCTTCACACAGCACCTCTCAATCTCCTATTGCTTGTCAGCCTGTGTGC
GTGTGGTGCAGGAAATAAAGGATCTATACCCTCCTGG

Protein Sequence    (SEQ ID NO:889):
MRPRRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGTQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNS
DAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEERERDLNTAARIGQSLVK
QNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEA
LQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFLEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEK
EIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGD
TSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEELVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASG
LGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR


SNP Information

Context             (SEQ ID NO:4007):
CTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCT
K
CCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAG
Celera SNP ID:            hCV27955697
SNP Position Transcript:  2591
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4008):
CAACCCCCGGTGTCCACTGGGTCTGCCACCCATTACCCATACAGCGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAA
Y
GTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTAC
Celera SNP ID:            hCV25594397
SNP Position Transcript:  1440
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,3)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 477, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 477, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4009):
TCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCT
R
CCCCCAACCCCTGCCTCCTCTATACCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGA
Celera SNP ID:            hCV27955698
SNP Position Transcript:  2251
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4010):
GTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTT
S
GTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGG
Celera SNP ID:            hCV1844850
SNP Position Transcript:  1642
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,1|G,37)   total(C,3|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 544, (F,TTC)   (L,TTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,2)   total(G,2|C,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 544, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:4011):
TGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTACCCCCAACCCCTGCCTCCTCTAT
M
CCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCT
Celera SNP ID:            hCV1844851
SNP Position Transcript:  2275
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,4)      total(A,4|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4012):
CCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGG
Y
CTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCGCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGG
Celera SNP ID:            hCV1844852
SNP Position Transcript:  3451
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4013):
AGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGCCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCC
R
CTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATG
Celera SNP ID:            hCV1844853
SNP Position Transcript:  3500
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4014):
TGAGACTGAAAAGTTGCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTG
Y
GGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCGGTGTCCACTGGGTCTGCCACCCA
Celera SNP ID:            hCV1844845
SNP Position Transcript:  1271
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,10)   caucasian(C,16|T,18)   total(C,40|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 421, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(C,19|T,21)   total(C,39|T,27)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 421, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 421, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4015):
TGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCC
R
GTGTCCACTGGGTCTGCCACCCATTACCCATACAGCGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAA
Celera SNP ID:            hCV1844846
SNP Position Transcript:  1348
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,19)   caucasian(A,13|G,23)   total(A,22|G,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:889, 446, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,6)      total(G,6|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:889, 446, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4016):
TCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCC
R
TGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCT
Celera SNP ID:            hCV1844854
SNP Position Transcript:  3814
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,2)   total(G,2|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:889, None   



Context             (SEQ ID NO:4017):
CAGACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCT
R
TGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAACC
Celera SNP ID:            hCV25594316
SNP Position Transcript:  84
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 25, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:4018):
TGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCGGTGTCCACTGGGTCTGCCACCCATTACCCATACAG
Y
GTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGA
Celera SNP ID:            hCV25594406
SNP Position Transcript:  1384
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,32|T,8)   total(C,60|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:889, 458, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:4019):
CTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGA
W
CCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGG
Celera SNP ID:            hCV25594325
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,4)   caucasian(A,16|T,2)   total(A,22|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 58, (T,ACC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 58, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:4020):
CAGACTCGAGATGCGCCCGA
R
GAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCC
Celera SNP ID:            hCV25594317
SNP Position Transcript:  21
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,26|G,12)   total(A,54|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 4, (K,AAG)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 4, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:4021):
C
W
GACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGC
Celera SNP ID:            hCV25594318
SNP Position Transcript:  2
SNP Source:               Applera
Population(Allele,Count): african american(A,25|T,9)   caucasian(A,40)   total(A,65|T,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:889, None



Context             (SEQ ID NO:4022):
CTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTT
Y
GGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAG
Celera SNP ID:            hCV27876716
SNP Position Transcript:  1032
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 341, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:4023):
GGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCAC
R
GGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCT
Celera SNP ID:            hCV25594377
SNP Position Transcript:  1928
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 640, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:4024):
CAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGAT
M
GTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATC
Celera SNP ID:            hCV25594386
SNP Position Transcript:  1965
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,27)   caucasian(C,34)   total(A,5|C,61)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 652, (X,TAG)   (S,TCG)   



Context             (SEQ ID NO:4025):
AAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCC
R
GCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACG
Celera SNP ID:            hCV25594378
SNP Position Transcript:  1681
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,34)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:889, 557, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4026):
TTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTG
Y
GGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAG
Celera SNP ID:            hCV25594379
SNP Position Transcript:  1632
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 541, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:4027):
AAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGTATGGGGCTGAGACTGAAAAGTT
K
CAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGG
Celera SNP ID:            hCV25594387
SNP Position Transcript:  1186
SNP Source:               Applera
Population(Allele,Count): african american(G,30|T,6)   caucasian(G,18|T,20)   total(G,48|T,26)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 392, (L,TTG)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,7)   caucasian(G,17|T,17)   total(G,46|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:889, 392, (L,TTG)   (F,TTT)   



Gene Number:                 81
Celera Gene:                 hCG18962 - 64000127257053
Celera Transcript:           hCT1954490 - 64000127257085
Public Transcript Accession: NM_003949
Celera Protein:              hCP1762055 - 197000064954731
Public Protein Accession:    NP_003940
Gene Symbol:                 HAP1
Protein Name:                huntingtin-associated protein 1 (neuroan 1);HAP2;HIP5;HLP;hHLP1
Celera Genomic Axis:         GA_x5YUV32VU68(3401194..3413299)
Chromosome:                  Chr17
OMIM number:                 600947
OMIM Information:            HUNTINGTIN-ASSOCIATED PROTEIN 1;HAP1


Transcript Sequence (SEQ ID NO:193):
CWGACTCGAGATGCGCCCGARGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTRTGCACCTTCGCCCTCA
GCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAWCCCAGTTCCTCTCGGAAG
CCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCC
CGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAG
ACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCTTCTCCCACCTGTCTGGGAG
AGCGTTACCTATGGGATGGTCCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGG
AGAACAGCAAGCTGGAAGCCCTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTC
AGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGT
GCTCATCCCTGTGATGCCCCTAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGC
TGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTY
GGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAG
GTGCTGAAGCTGCAGCAGCGCTGCCGGATGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAAYGTCTCTAAGGAGGATGATCTCAG
ACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCG
GGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGYGGAGGAGTTSGTGCCCCAGGAGGAGCTGGGG
GCTGCCAAGAAGGTGCCRGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATG
AGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCGGCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTG
GCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACRGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGA
TMGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATA
TCATTTGCATAGACACCTCTGATCCCCTTCAGTGGGAACCGTAGTGTCAGTGCTCATTTATGTGGCATTTGCTTAGGATTCCAGATCTCCATCCACTTTT
CTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTRCCCCCAACCCCT
GCCTCCTCTATMCCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGG
CTGACCCAGGCTGGAGGACAGGACCAGCCACCCTCCCACGGCCTGGGAGGAAGAGAGGCCTTCTGGGACTGCCCAGGCTATGGGGACAAAGGCCTTCACC
AGCAAGGGCCACAGTTGGAACAGTCCCCTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAG
AAACCCCAAAGTCTGGGAGCTGCACCTKCCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCA
TGCACAGCAGCCATTGCACGTGCATCAGCTCCCATCAGCCTCATTCCGTGGCAGGTGATGTGTCCCCATTGGTTAGGTGAGGAGGGTGAGGCTCAGAGAG
CTAAGGACACTTGTTTGGGGCCACACAGCCGGGGTAGATCTGAGCCCGTCCTCTCTACTCCTGTGCTGTAGCACCTTCACTGGCCCATCCCTCCCCTCTA
GTGCTGTCCTGGTACCCGTCCCAGCCTGTCCCCATTCTCATGGCCCTTTGGTCACTGCCGGGTGGAATAGCACTGGCTTCAGCAGGCGTGTCATGTAAGC
TTGTGCAGGTTATAAACTGAACCATGACCTTTATGGCGCATGCAGGGGGCAACCTGCATAATTATCAATGGCGACTTTCCGTGTCCTTCTGATACAGTTG
ATCAGACCCCTGCCCACCGCCCAGGCCAGGCCTGTGGTCATCAATGCCCCAGTTCACATCCACCTGCTTCTCTTCCAGGCTTTGCTGTTCCCCAGCAGCC
TGCAGAGGCCCCACAGACAGCTTGAGGCCCCTCCTGCTGCCTGGCCAAGCCCCACACCCGCAGACCCTCCTTCCCATCCTCTGAAATGGGACCCTGTGTC
TGTCACCAGCCCACCCTCTGTGTTCATGAACCTGGGCTGGAGCTTGGGGACCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACATG
TTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGYCTGGGCCACATG
GCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCRCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTG
AGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATGCCCATGCTAATGGTAGCCACCCTGGTTCTTGTTGACTTGAGGGACCTGGCTGTCTTCCCTGTT
CTTCATCCTTTCTTCTCAGTCCCTACCTACTGTTTGTAACCACAAGTGTCTCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCT
CCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCCRTGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTG
GCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCTGGGGGCTGGGACTGAGGCCTCCTGCAGGTACCTGCCCCCCTTCACACAG
CACCTCTCAATCTCCTATTGCTTGTCAGCCTGTGTGCGTGTGGTGCAGGAAATAAAGGATCTATACCCTCCTGG

Protein Sequence    (SEQ ID NO:890):
MSGLCPTIRTRRGPASYSKGRLVPGPLAGGLERQRASGRRQPPTLAGDPGCPALSAPPLFGSWRKLLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQN
SVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQ
EKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFLEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMETLPGFQETLAEELRTSL
RRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEELVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEV
ELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR


SNP Information

Context             (SEQ ID NO:4028):
CTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCT
K
CCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAG
Celera SNP ID:            hCV27955697
SNP Position Transcript:  2328
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4029):
GAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAA
Y
GTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTAC
Celera SNP ID:            hCV25594397
SNP Position Transcript:  1177
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,3)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 298, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 298, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4030):
TCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCT
R
CCCCCAACCCCTGCCTCCTCTATACCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGA
Celera SNP ID:            hCV27955698
SNP Position Transcript:  1988
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4031):
GTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTT
S
GTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGG
Celera SNP ID:            hCV1844850
SNP Position Transcript:  1379
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,1|G,37)   total(C,3|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 365, (F,TTC)   (L,TTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,2)   total(G,2|C,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 365, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:4032):
TGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTACCCCCAACCCCTGCCTCCTCTAT
M
CCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCT
Celera SNP ID:            hCV1844851
SNP Position Transcript:  2012
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,4)      total(A,4|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4033):
CCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGG
Y
CTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCGCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGG
Celera SNP ID:            hCV1844852
SNP Position Transcript:  3188
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4034):
AGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGCCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCC
R
CTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATG
Celera SNP ID:            hCV1844853
SNP Position Transcript:  3237
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4035):
TCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCC
R
TGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCT
Celera SNP ID:            hCV1844854
SNP Position Transcript:  3551
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,2)   total(G,2|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4036):
CAGACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCT
R
TGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAACC
Celera SNP ID:            hCV25594316
SNP Position Transcript:  84
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None



Context             (SEQ ID NO:4037):
CAGACTCGAGATGCGCCCGA
R
GAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCC
Celera SNP ID:            hCV25594317
SNP Position Transcript:  21
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,26|G,12)   total(A,54|G,18)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4038):
CTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGA
W
CCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGG
Celera SNP ID:            hCV25594325
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,4)   caucasian(A,16|T,2)   total(A,22|T,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None   



Context             (SEQ ID NO:4039):
C
W
GACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGC
Celera SNP ID:            hCV25594318
SNP Position Transcript:  2
SNP Source:               Applera
Population(Allele,Count): african american(A,25|T,9)   caucasian(A,40)   total(A,65|T,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:890, None



Context             (SEQ ID NO:4040):
CTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTT
Y
GGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAG
Celera SNP ID:            hCV27876716
SNP Position Transcript:  1000
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 239, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:4041):
GGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCAC
R
GGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCT
Celera SNP ID:            hCV25594377
SNP Position Transcript:  1665
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 461, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:4042):
AAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCC
R
GCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACG
Celera SNP ID:            hCV25594378
SNP Position Transcript:  1418
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,34)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:890, 378, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4043):
CAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGAT
M
GTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATC
Celera SNP ID:            hCV25594386
SNP Position Transcript:  1702
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,27)   caucasian(C,34)   total(A,5|C,61)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 473, (X,TAG)   (S,TCG)   



Context             (SEQ ID NO:4044):
TTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTG
Y
GGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAG
Celera SNP ID:            hCV25594379
SNP Position Transcript:  1369
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:890, 362, (A,GCG)   (V,GTG)   



Gene Number:                 81
Celera Gene:                 hCG18962 - 64000127257053
Celera Transcript:           hCT10027 - 64000127257054
Public Transcript Accession: NM_003949
Celera Protein:              hCP36580 - 197000064954728
Public Protein Accession:    NP_003940
Gene Symbol:                 HAP1
Protein Name:                huntingtin-associated protein 1 (neuroan 1);HAP2;HIP5;HLP;hHLP1
Celera Genomic Axis:         GA_x5YUV32VU68(3401194..3413299)
Chromosome:                  Chr17
OMIM number:                 600947
OMIM Information:            HUNTINGTIN-ASSOCIATED PROTEIN 1;HAP1


Transcript Sequence (SEQ ID NO:194):
CWGACTCGAGATGCGCCCGARGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTRTGCACCTTCGCCCTCA
GCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAWCCCAGTTCCTCTCGGAAG
CCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCC
CGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAG
ACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTC
CGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGCTGGAGGAGCTTCTCCCACCTGTCTGGGAGAGCGTTACCTATGGGATGGT
CCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCC
CTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATG
AGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCC
TAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAG
CTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTYGGAGGCCAGCCAACAGATGG
CTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCG
CTGCCGGATGTATGGGGCTGAGACTGAAAAGTTKCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGT
TCCCAGCTGCAGGACCTGYGGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCRGTGT
CCACTGGGTCTGCCACCCATTACCCATACAGYGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAAYGTCTCTAAGGAG
GATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGA
GAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGYGGAGGAGTTSGTGCCCCAGG
AGGAGCTGGGGGCTGCCAAGAAGGTGCCRGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACT
GGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCGGCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAG
CTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACRGGGCCCTCCCTGCCGCCAGCCGGA
CAAGCTGCAGATMGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATG
GACTTTGCATATCATTTGCATAGACACCTCTGATCCCCTTCAGTGGGAACCGTAGTGTCAGTGCTCATTTATGTGGCATTTGCTTAGGATTCCAGATCTC
CATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTRC
CCCCAACCCCTGCCTCCTCTATMCCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAG
CAGCCTGGGGGCTGACCCAGGCTGGAGGACAGGACCAGCCACCCTCCCACGGCCTGGGAGGAAGAGAGGCCTTCTGGGACTGCCCAGGCTATGGGGACAA
AGGCCTTCACCAGCAAGGGCCACAGTTGGAACAGTCCCCTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTC
TCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCTKCCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCT
TGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAGCTCCCATCAGCCTCATTCCGTGGCAGGTGATGTGTCCCCATTGGTTAGGTGAGGAGGGTGA
GGCTCAGAGAGCTAAGGACACTTGTTTGGGGCCACACAGCCGGGGTAGATCTGAGCCCGTCCTCTCTACTCCTGTGCTGTAGCACCTTCACTGGCCCATC
CCTCCCCTCTAGTGCTGTCCTGGTACCCGTCCCAGCCTGTCCCCATTCTCATGGCCCTTTGGTCACTGCCGGGTGGAATAGCACTGGCTTCAGCAGGCGT
GTCATGTAAGCTTGTGCAGGTTATAAACTGAACCATGACCTTTATGGCGCATGCAGGGGGCAACCTGCATAATTATCAATGGCGACTTTCCGTGTCCTTC
TGATACAGTTGATCAGACCCCTGCCCACCGCCCAGGCCAGGCCTGTGGTCATCAATGCCCCAGTTCACATCCACCTGCTTCTCTTCCAGGCTTTGCTGTT
CCCCAGCAGCCTGCAGAGGCCCCACAGACAGCTTGAGGCCCCTCCTGCTGCCTGGCCAAGCCCCACACCCGCAGACCCTCCTTCCCATCCTCTGAAATGG
GACCCTGTGTCTGTCACCAGCCCACCCTCTGTGTTCATGAACCTGGGCTGGAGCTTGGGGACCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCC
TTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGYC
TGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCRCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGC
AGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATGCCCATGCTAATGGTAGCCACCCTGGTTCTTGTTGACTTGAGGGACCTGGCTG
TCTTCCCTGTTCTTCATCCTTTCTTCTCAGTCCCTACCTACTGTTTGTAACCACAAGTGTCTCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGT
GTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCCRTGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCT
CCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCTGGGGGCTGGGACTGAGGCCTCCTGCAGGTACCTGCCCC
CCTTCACACAGCACCTCTCAATCTCCTATTGCTTGTCAGCCTGTGTGCGTGTGGTGCAGGAAATAAAGGATCTATACCCTCCTGG

Protein Sequence    (SEQ ID NO:891):
MRPRRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGTQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNS
DAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQR
ERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLI
SQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFLEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRM
YGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMIS
DPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEELVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELD
EATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR


SNP Information

Context             (SEQ ID NO:4045):
CTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCT
K
CCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAG
Celera SNP ID:            hCV27955697
SNP Position Transcript:  2639
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4046):
CAACCCCCGGTGTCCACTGGGTCTGCCACCCATTACCCATACAGCGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAA
Y
GTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTAC
Celera SNP ID:            hCV25594397
SNP Position Transcript:  1488
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,3)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 493, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 493, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4047):
TCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCT
R
CCCCCAACCCCTGCCTCCTCTATACCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGA
Celera SNP ID:            hCV27955698
SNP Position Transcript:  2299
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4048):
GTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTT
S
GTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGG
Celera SNP ID:            hCV1844850
SNP Position Transcript:  1690
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,1|G,37)   total(C,3|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 560, (F,TTC)   (L,TTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,2)   total(G,2|C,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 560, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:4049):
TGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTACCCCCAACCCCTGCCTCCTCTAT
M
CCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCT
Celera SNP ID:            hCV1844851
SNP Position Transcript:  2323
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,4)      total(A,4|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4050):
CCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGG
Y
CTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCGCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGG
Celera SNP ID:            hCV1844852
SNP Position Transcript:  3499
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4051):
AGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGCCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCC
R
CTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATG
Celera SNP ID:            hCV1844853
SNP Position Transcript:  3548
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4052):
TGAGACTGAAAAGTTGCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTG
Y
GGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCGGTGTCCACTGGGTCTGCCACCCA
Celera SNP ID:            hCV1844845
SNP Position Transcript:  1319
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,10)   caucasian(C,16|T,18)   total(C,40|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 437, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(C,19|T,21)   total(C,39|T,27)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 437, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 437, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4053):
TGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCC
R
GTGTCCACTGGGTCTGCCACCCATTACCCATACAGCGTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAA
Celera SNP ID:            hCV1844846
SNP Position Transcript:  1396
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,19)   caucasian(A,13|G,23)   total(A,22|G,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:891, 462, (P,CCA)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,6)      total(G,6|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:891, 462, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4054):
TCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCC
R
TGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCT
Celera SNP ID:            hCV1844854
SNP Position Transcript:  3862
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,2)   total(G,2|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:891, None   



Context             (SEQ ID NO:4055):
CAGACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCT
R
TGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAACC
Celera SNP ID:            hCV25594316
SNP Position Transcript:  84
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 25, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:4056):
TGGATTGTGGGGGCATGCTGATTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCGGTGTCCACTGGGTCTGCCACCCATTACCCATACAG
Y
GTGCCTCTGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGA
Celera SNP ID:            hCV25594406
SNP Position Transcript:  1432
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,32|T,8)   total(C,60|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:891, 474, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:4057):
CTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGA
W
CCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGG
Celera SNP ID:            hCV25594325
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,4)   caucasian(A,16|T,2)   total(A,22|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 58, (T,ACC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 58, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:4058):
CAGACTCGAGATGCGCCCGA
R
GAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCC
Celera SNP ID:            hCV25594317
SNP Position Transcript:  21
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,26|G,12)   total(A,54|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 4, (K,AAG)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 4, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:4059):
C
W
GACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGC
Celera SNP ID:            hCV25594318
SNP Position Transcript:  2
SNP Source:               Applera
Population(Allele,Count): african american(A,25|T,9)   caucasian(A,40)   total(A,65|T,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:891, None



Context             (SEQ ID NO:4060):
CTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTT
Y
GGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAG
Celera SNP ID:            hCV27876716
SNP Position Transcript:  1080
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 357, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:4061):
GGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCAC
R
GGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCT
Celera SNP ID:            hCV25594377
SNP Position Transcript:  1976
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 656, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:4062):
CAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGAT
M
GTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATC
Celera SNP ID:            hCV25594386
SNP Position Transcript:  2013
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,27)   caucasian(C,34)   total(A,5|C,61)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 668, (X,TAG)   (S,TCG)   



Context             (SEQ ID NO:4063):
AAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCC
R
GCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACG
Celera SNP ID:            hCV25594378
SNP Position Transcript:  1729
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,34)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:891, 573, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4064):
TTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTG
Y
GGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAG
Celera SNP ID:            hCV25594379
SNP Position Transcript:  1680
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 557, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:4065):
AAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGTATGGGGCTGAGACTGAAAAGTT
K
CAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGAGCGTGTGGGTGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGG
Celera SNP ID:            hCV25594387
SNP Position Transcript:  1234
SNP Source:               Applera
Population(Allele,Count): african american(G,30|T,6)   caucasian(G,18|T,20)   total(G,48|T,26)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 408, (L,TTG)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,7)   caucasian(G,17|T,17)   total(G,46|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:891, 408, (L,TTG)   (F,TTT)   



Gene Number:                 81
Celera Gene:                 hCG18962 - 64000127257053
Celera Transcript:           hCT1954489 - 64000127257070
Public Transcript Accession: NM_003949
Celera Protein:              hCP1762053 - 197000064954730
Public Protein Accession:    NP_003940
Gene Symbol:                 HAP1
Protein Name:                huntingtin-associated protein 1 (neuroan 1);HAP2;HIP5;HLP;hHLP1
Celera Genomic Axis:         GA_x5YUV32VU68(3401194..3413299)
Chromosome:                  Chr17
OMIM number:                 600947
OMIM Information:            HUNTINGTIN-ASSOCIATED PROTEIN 1;HAP1


Transcript Sequence (SEQ ID NO:195):
CWGACTCGAGATGCGCCCGARGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTRTGCACCTTCGCCCTCA
GCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAWCCCAGTTCCTCTCGGAAG
CCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCC
CGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAG
ACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTC
CGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGCTGGAGGAGCTTCTCCCACCTGTCTGGGAGAGCGTTACCTATGGGATGGT
CCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCC
CTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATG
AGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCC
TAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAG
CTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTYGGAGGCCAGCCAACAGATGG
CTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCG
CTGCCGGATGTATGGGGCTGAGACTGAAAAGTTKCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGGAGACTCTTCCTGGT
TTCCAGGAGACGCTGGCTGAGGAGCTCAGAAYGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGG
ACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCAT
GCGGGGGGAAGATTTCACGCCTGYGGAGGAGTTSGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCRGCTGAGGAAGGGGTGATGGAAGAGGCA
GAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCG
GCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCA
GAAAGGTGAGTGCCCCCACRGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATMGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGC
TCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATCATTTGCATAGACACCTCTGATCCCCTTCAGTGGGAACCGTAGT
GTCAGTGCTCATTTATGTGGCATTTGCTTAGGATTCCAGATCTCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCA
CACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTRCCCCCAACCCCTGCCTCCTCTATMCCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGC
AGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCTGGAGGACAGGACCAGCCACCCTCCCACGGCCTG
GGAGGAAGAGAGGCCTTCTGGGACTGCCCAGGCTATGGGGACAAAGGCCTTCACCAGCAAGGGCCACAGTTGGAACAGTCCCCTGGGTGTCAGAAGGTGG
GCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCTKCCGAGTGCAGGCCATGT
GAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAGCTCCCATCAGCCTCATT
CCGTGGCAGGTGATGTGTCCCCATTGGTTAGGTGAGGAGGGTGAGGCTCAGAGAGCTAAGGACACTTGTTTGGGGCCACACAGCCGGGGTAGATCTGAGC
CCGTCCTCTCTACTCCTGTGCTGTAGCACCTTCACTGGCCCATCCCTCCCCTCTAGTGCTGTCCTGGTACCCGTCCCAGCCTGTCCCCATTCTCATGGCC
CTTTGGTCACTGCCGGGTGGAATAGCACTGGCTTCAGCAGGCGTGTCATGTAAGCTTGTGCAGGTTATAAACTGAACCATGACCTTTATGGCGCATGCAG
GGGGCAACCTGCATAATTATCAATGGCGACTTTCCGTGTCCTTCTGATACAGTTGATCAGACCCCTGCCCACCGCCCAGGCCAGGCCTGTGGTCATCAAT
GCCCCAGTTCACATCCACCTGCTTCTCTTCCAGGCTTTGCTGTTCCCCAGCAGCCTGCAGAGGCCCCACAGACAGCTTGAGGCCCCTCCTGCTGCCTGGC
CAAGCCCCACACCCGCAGACCCTCCTTCCCATCCTCTGAAATGGGACCCTGTGTCTGTCACCAGCCCACCCTCTGTGTTCATGAACCTGGGCTGGAGCTT
GGGGACCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCC
GGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGYCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCRCTGGCTAC
CAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATGCCCATGCT
AATGGTAGCCACCCTGGTTCTTGTTGACTTGAGGGACCTGGCTGTCTTCCCTGTTCTTCATCCTTTCTTCTCAGTCCCTACCTACTGTTTGTAACCACAA
GTGTCTCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCC
CATCCRTGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCA
ATAGCTGGGGGCTGGGACTGAGGCCTCCTGCAGGTACCTGCCCCCCTTCACACAGCACCTCTCAATCTCCTATTGCTTGTCAGCCTGTGTGCGTGTGGTG
CAGGAAATAAAGGATCTATACCCTCCTGG

Protein Sequence    (SEQ ID NO:892):
MRPRRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGTQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNS
DAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQR
ERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLI
SQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFLEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRM
YGAETEKLQKQLASEKEIQMQLQEEETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGE
DFTPAEELVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGE
CPHGALPAASRTSCRSSCR


SNP Information

Context             (SEQ ID NO:4066):
CAGACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCT
R
TGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGAACC
Celera SNP ID:            hCV25594316
SNP Position Transcript:  84
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 25, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:4067):
CTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTGGGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCT
K
CCGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCTTGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAG
Celera SNP ID:            hCV27955697
SNP Position Transcript:  2483
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Context             (SEQ ID NO:4068):
CAGACTCGAGATGCGCCCGA
R
GAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCC
Celera SNP ID:            hCV25594317
SNP Position Transcript:  21
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,26|G,12)   total(A,54|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 4, (K,AAG)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 4, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:4069):
CTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGA
W
CCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGG
Celera SNP ID:            hCV25594325
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,4)   caucasian(A,16|T,2)   total(A,22|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 58, (T,ACC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 58, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:4070):
TTGCAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAA
Y
GTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTAC
Celera SNP ID:            hCV25594397
SNP Position Transcript:  1332
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,3)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 441, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 441, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4071):
TCCATCCACTTTTCTCCTGGGGGCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCT
R
CCCCCAACCCCTGCCTCCTCTATACCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGA
Celera SNP ID:            hCV27955698
SNP Position Transcript:  2143
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Context             (SEQ ID NO:4072):
C
W
GACTCGAGATGCGCCCGAGGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGC
Celera SNP ID:            hCV25594318
SNP Position Transcript:  2
SNP Source:               Applera
Population(Allele,Count): african american(A,25|T,9)   caucasian(A,40)   total(A,65|T,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:892, None



Context             (SEQ ID NO:4073):
CTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTT
Y
GGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAG
Celera SNP ID:            hCV27876716
SNP Position Transcript:  1080
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 357, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:4074):
GTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTT
S
GTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGG
Celera SNP ID:            hCV1844850
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,1|G,37)   total(C,3|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 508, (F,TTC)   (L,TTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,2)   total(G,2|C,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 508, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:4075):
TGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTCTGCCCGCTTGCTTCCCCTACCCCCAACCCCTGCCTCCTCTAT
M
CCCCAGGCTCTCCAACTCTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAGCAGCCTGGGGGCTGACCCAGGCT
Celera SNP ID:            hCV1844851
SNP Position Transcript:  2167
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,4)      total(A,4|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Context             (SEQ ID NO:4076):
GGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCAC
R
GGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCT
Celera SNP ID:            hCV25594377
SNP Position Transcript:  1820
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,38)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 604, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:4077):
CCTTTCCCACATGTTGGAGGCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGG
Y
CTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCCGCTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGG
Celera SNP ID:            hCV1844852
SNP Position Transcript:  3343
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Context             (SEQ ID NO:4078):
CAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGAT
M
GTCGTGCCGATGAAAAGAGAGGGTGGATAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATGGACTTTGCATATC
Celera SNP ID:            hCV25594386
SNP Position Transcript:  1857
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,27)   caucasian(C,34)   total(A,5|C,61)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 616, (X,TAG)   (S,TCG)   



Context             (SEQ ID NO:4079):
AAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCC
R
GCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACG
Celera SNP ID:            hCV25594378
SNP Position Transcript:  1573
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,34)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:892, 521, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4080):
AGGAACCCCGGCCCTCGCTCTGCAGCTGGTGCAAAAGCTGTGGCTGCCAGGCCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCGGGAGAGGCCC
R
CTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACCGGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATG
Celera SNP ID:            hCV1844853
SNP Position Transcript:  3392
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Context             (SEQ ID NO:4081):
TTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTG
Y
GGAGGAGTTGGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAG
Celera SNP ID:            hCV25594379
SNP Position Transcript:  1524
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 505, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:4082):
AAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGTATGGGGCTGAGACTGAAAAGTT
K
CAGAAGCAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGT
Celera SNP ID:            hCV25594387
SNP Position Transcript:  1234
SNP Source:               Applera
Population(Allele,Count): african american(G,30|T,6)   caucasian(G,18|T,20)   total(G,48|T,26)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 408, (L,TTG)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,7)   caucasian(G,17|T,17)   total(G,46|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:892, 408, (L,TTG)   (F,TTT)   



Context             (SEQ ID NO:4083):
TCTGTGTGTGGGTGGGTGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGCCTGGGGGTGTCCAGGCTCCCATCC
R
TGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAATAGCT
Celera SNP ID:            hCV1844854
SNP Position Transcript:  3706
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,2)   total(G,2|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:892, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252576 - 30000035318912
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790813 - 30000035318892
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:196):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGC
CYTCVCCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAG
GCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAKTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGAYAAAACTAGAGACTC
AAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTT
CATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTC
AAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTG
GGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCAT
TTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATG
TGAGTTGCACAGCTATGAAGGYTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTRGGTAGTATGATGGGTGTTT
TTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCC
TTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATG
ATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATC
CCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAG
GTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCA
GCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCSGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAG
TGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAG
GTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA

Protein Sequence    (SEQ ID NO:893):
MGPRARPALLLLMLLQTAVLQGRLLQPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4084):
TCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGG
Y
TGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATAT
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1022
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:893, None   



Context             (SEQ ID NO:4085):
AATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGA
Y
AAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTT
Celera SNP ID:            hCV25595082
SNP Position Transcript:  486
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:893, 162, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4086):
CGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGCCCTC
V
CCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGG
Celera SNP ID:            hCV1085595
SNP Position Transcript:  305
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:893, 102, (Y,TAC)   (C,TGC)      102, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4087):
CACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA
Y

Celera SNP ID:            hCV3266648
SNP Position Transcript:  1945
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:893, None   



Context             (SEQ ID NO:4088):
GTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGCC
Y
TCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGC
Celera SNP ID:            hCV27529793
SNP Position Transcript:  302
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:893, 101, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4089):
TCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGT
R
GGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATT
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1081
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:893, None   



Context             (SEQ ID NO:4090):
TTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGA
K
TGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAA
Celera SNP ID:            hCV27862610
SNP Position Transcript:  449
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:893, 150, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4091):
CTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGC
S
GAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAA
Celera SNP ID:            hCV7579284
SNP Position Transcript:  1647
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:893, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252578 - 30000035318888
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790810 - 197000064923451
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:197):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCC
AGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGG
CTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATAYGTVCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCC
TCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAKGAAGAGGC
AGGGTTCAAGAGGAGCCATGGGGCACTAYGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAA
AGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCA
TTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAA
GCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGG
GGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTT
TCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACYAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTG
AGTTGCACAGCTATGAAGGCTGTRCACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTT
AGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTT
CATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGAT
AAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCC
CATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGT
CAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTSTAGTCCCAGC
TACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTG
AGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGT
TTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAYGAGA

Protein Sequence    (SEQ ID NO:894):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLV
IGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4092):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4093):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4094):
ACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCAC
Y
AAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCAT
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1465
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:894, None   



Context             (SEQ ID NO:4095):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4096):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4097):
GATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAA
Y
GAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2388
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:894, None   



Context             (SEQ ID NO:4098):
GCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATA
Y
GTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCT
Celera SNP ID:            hCV27529793
SNP Position Transcript:  745
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 175, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4099):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:894, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4100):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCC
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4101):
TCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTA
Y
GTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATG
Celera SNP ID:            hCV25595082
SNP Position Transcript:  929
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:894, 236, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4102):
AAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGT
V
CCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTT
Celera SNP ID:            hCV1085595
SNP Position Transcript:  748
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 176, (Y,TAC)   (C,TGC)      176, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4103):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4104):
TTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGT
R
CACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTG
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1524
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:894, None   



Context             (SEQ ID NO:4105):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4106):
TGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAA
K
GAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  892
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:894, 224, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4107):
GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCT
S
TAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGG
Celera SNP ID:            hCV7579284
SNP Position Transcript:  2090
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:894, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252574 - 30000035318994
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790802 - 197000064923443
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25721596)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:198):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGC
AMGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACC
CAGGGCCTGGCCCACCAAGCTGKAGTRGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAG
TTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGG
CCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGG
GGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATAYGTVCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTC
ATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCA
TAATATTAAKGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTAYGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAG
ACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGAT
TTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACT
GTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGA
GGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTAC
ACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACYAAGCCTTGGGGATTCTT
CCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTRCACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGT
AGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGC
AAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAA
AATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGA
GATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATGCTGAGATTACAGG
TGTGAGCCACCCTGCCCAGCCGTCAAAAGAGTCTTAATATATATATCCAGATGGCATGTGTTTACTTTATGTTACTACATGCACTTGGCTGCATAAATGT
GGTACAASCATTCTGTCTTGAAGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATC
TCTTCTTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGTTATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGTAGAAAAGCTATAAAATGAATAC
AATTAAAGCTGTTATTTAATTAGCCAGTGAAAAACTATTAACAACTTGTCTATTACCTGTTAGTATTATTGTTGCATTAAAAATGCATATACTTTAATAA
ATGTAYATTGTATTGT

Protein Sequence    (SEQ ID NO:895):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRG
VLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS
PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4108):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4109):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4110):
ACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCAC
Y
AAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCAT
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1783
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:895, None   



Context             (SEQ ID NO:4111):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4112):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4113):
AAGCTGTTATTTAATTAGCCAGTGAAAAACTATTAACAACTTGTCTATTACCTGTTAGTATTATTGTTGCATTAAAAATGCATATACTTTAATAAATGTA
Y
ATTGTATTGT
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2706
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:895, None   



Context             (SEQ ID NO:4114):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:895, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4115):
GCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATA
Y
GTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCT
Celera SNP ID:            hCV27529793
SNP Position Transcript:  1063
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 281, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4116):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4117):
CTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTG
K
AGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGT
Celera SNP ID:            hCV27530977
SNP Position Transcript:  723
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 168, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4118):
GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCA
M
GAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCA
Celera SNP ID:            hCV27532033
SNP Position Transcript:  602
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 127, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:4119):
TGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGT
R
GGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTG
Celera SNP ID:            hCV27540410
SNP Position Transcript:  727
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 169, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4120):
TCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTA
Y
GTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATG
Celera SNP ID:            hCV25595082
SNP Position Transcript:  1247
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:895, 342, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4121):
AAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGT
V
CCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTT
Celera SNP ID:            hCV1085595
SNP Position Transcript:  1066
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 282, (Y,TAC)   (C,TGC)      282, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4122):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4123):
TTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGT
R
CACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTG
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1842
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:895, None   



Context             (SEQ ID NO:4124):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4125):
TGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAA
K
GAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  1210
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:895, 330, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4126):
CACCCTGCCCAGCCGTCAAAAGAGTCTTAATATATATATCCAGATGGCATGTGTTTACTTTATGTTACTACATGCACTTGGCTGCATAAATGTGGTACAA
S
CATTCTGTCTTGAAGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATCTCTTCTTT
Celera SNP ID:            hCV7579284
SNP Position Transcript:  2408
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:895, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252582 - 30000035318906
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790805 - 30000035318916
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:199):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAAGGAAGTGAAAGTTCCAGTCTTCCTGGSAAGGGTAAAC
AGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGG
CCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGG
GGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTC
ATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGAGCCCTCACCGTCTGGCACCC
TAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGC
CATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTA
TGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATT
TCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCT
TCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCA
TTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAAC
TTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGA
AGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAA
ATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACT
CTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCG
TGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAAT
GAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA
TCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAG
GCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAA
AAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAAT
CTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA

Protein Sequence    (SEQ ID NO:896):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKEGSESSSLPGKGKQIPSPHPSSFLSSASFGEGDTSCDLFSDHSTVSGLELLPPEHHHEVAEG


SNP Information

Context             (SEQ ID NO:4127):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:896, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4128):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4129):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4130):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAA
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4131):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4132):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4133):
GTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAAGGAAGTGAAAGTTCCAGTCTTCCTGG
S
AAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTA
Celera SNP ID:            hCV7579277
SNP Position Transcript:  590
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,40)   total(C,75|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:896, 123, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:896, 123, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:4134):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4135):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:896, 53, (M,ATG)   (V,GTG)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252573 - 30000035318923
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790814 - 197000064923455
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:200):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCMGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAKGCCRGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGT
CCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATT
CTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCC
TACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCYCCVTTGGTGAAGGTGACACATC
ATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGC
CAAGGAGTTCGAACCTAAAGACGTKTTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAYCCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACG
TGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTG
TTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGA
GTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGA
ACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATG
CCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGYCA
TACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGRCTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCT
GGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACC
CAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCA
CCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTT
TTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATA
ATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACAT
GCATTACTGCATGCACTTCTTASAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGG
CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCT
AATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAG
AGCTTGCAGTGAGCCGAGTTRGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAA
AAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACT
ACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA

Protein Sequence    (SEQ ID NO:897):
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCP
AQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPG
LDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4136):
GACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCC
R
GCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAG
Celera SNP ID:            hCV27540410
SNP Position Transcript:  242
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 81, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4137):
ATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAG
Y
CATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACC
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1298
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:897, None   



Context             (SEQ ID NO:4138):
CACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATA
Y
CCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTC
Celera SNP ID:            hCV25595082
SNP Position Transcript:  762
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:897, 254, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4139):
GGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCC
V
TTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGG
Celera SNP ID:            hCV1085595
SNP Position Transcript:  581
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 194, (Y,TAC)   (C,TGC)      194, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4140):
GCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTT
R
GCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2221
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:897, None   



Context             (SEQ ID NO:4141):
TTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCC
Y
CCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGA
Celera SNP ID:            hCV27529793
SNP Position Transcript:  578
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 193, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4142):
TGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGG
R
CTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCT
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1357
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:897, None   



Context             (SEQ ID NO:4143):
TACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGT
K
TTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  725
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 242, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4144):
GTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTA
S
AATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT
Celera SNP ID:            hCV7579284
SNP Position Transcript:  1923
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:897, None   



Context             (SEQ ID NO:4145):
GGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCA
K
GCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAA
Celera SNP ID:            hCV27530977
SNP Position Transcript:  238
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 80, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4146):
CTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCC
M
GAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGG
Celera SNP ID:            hCV27532033
SNP Position Transcript:  117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:897, 39, (Q,CAA)   (H,CAC)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252579 - 30000035318989
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790811 - 197000064923452
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:201):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTRTCACCAGGAAGT
TTTACRGGGCATCTCCTSAYCCTWGGCAATAGCTGTAGGGTYACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGSCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCCTT
TGGGCTACGTGMATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGAT
GTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTKGGARCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCAC
ACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCC
CTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCT
GGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCYCCVTTGGTGAAGGTGACACATCATGTG
ACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGG
AGTTCGAACCTAAAGACGTKTTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAYCCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCA
GGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTT
GTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGAC
ACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTA
AACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGT
GATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGYCATACAC
CTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGRCTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGAC
GTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTA
ACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGT
CCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTC
TAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTT
CTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATT
ACTGCATGCACTTCTTASAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCAC
GCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAA
AAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTT
GCAGTGAGCCGAGTTRGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAA
GAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATT
CAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA

Protein Sequence    (SEQ ID NO:898):
MGPRARPALLLLMLLQTAVLQGRLLPLGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILG
CEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTL
RCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIG
ILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4147):
CACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTAC
R
GGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCG
Celera SNP ID:            hCV27541640
SNP Position Transcript:  106
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 36, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4148):
TAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCT
S
AGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGG
Celera SNP ID:            hCV1085600
SNP Position Transcript:  118
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 40, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 40, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4149):
ATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAG
Y
CATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACC
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1493
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:898, None   



Context             (SEQ ID NO:4150):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTT
R
TCACCAGGAAGTTTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAG
Celera SNP ID:            hCV27529784
SNP Position Transcript:  88
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 30, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4151):
GCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTT
R
GCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2416
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:898, None   



Context             (SEQ ID NO:4152):
GTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCTGA
Y
CCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  120
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:898, 40, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4153):
TTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCC
Y
CCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGA
Celera SNP ID:            hCV27529793
SNP Position Transcript:  773
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 258, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4154):
GGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGG
S
CAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCCTTTGGGCTAC
Celera SNP ID:            hCV27541479
SNP Position Transcript:  208
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 70, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4155):
TATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGT
K
GGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAA
Celera SNP ID:            hCV27530977
SNP Position Transcript:  433
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 145, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4156):
AGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCCTTTGGGCTACGTG
M
ATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCT
Celera SNP ID:            hCV27532033
SNP Position Transcript:  312
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 104, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:4157):
ATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGA
R
CACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAG
Celera SNP ID:            hCV27540410
SNP Position Transcript:  437
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 146, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4158):
CACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATA
Y
CCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTC
Celera SNP ID:            hCV25595082
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:898, 319, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4159):
GGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCC
V
TTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGG
Celera SNP ID:            hCV1085595
SNP Position Transcript:  776
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 259, (Y,TAC)   (C,TGC)      259, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4160):
CTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGT
Y
ACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCG
Celera SNP ID:            hCV27528459
SNP Position Transcript:  142
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 48, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4161):
TGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGG
R
CTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCT
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1552
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:898, None   



Context             (SEQ ID NO:4162):
TTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCTGAGCCT
W
GGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATG
Celera SNP ID:            hCV1085599
SNP Position Transcript:  124
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 42, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4163):
TACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGT
K
TTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  920
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:898, 307, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4164):
GTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTA
S
AATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT
Celera SNP ID:            hCV7579284
SNP Position Transcript:  2118
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:898, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT10184 - 30000035318933
Public Transcript Accession: NM_000410
Celera Protein:              hCP37071 - 30000035318913
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25721548)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:202):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGC
AMGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAA
ATTTTAGCAAAGATATCTCATCKCTTRTTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGTTATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGT
AGAAAAGCTATAAAATGAATACAATTAAAGCTGTTATTTAATTAGCCAGTGAAAAACTATTAACAACTTGTCTATTACCTGTTAGTATTA

Protein Sequence    (SEQ ID NO:899):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQVLQDTIYSSEVSSLGIKF


SNP Information

Context             (SEQ ID NO:4165):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:899, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4166):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4167):
TGGAAGTACGGGTATGATGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATCTCTT
R
TTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGTTATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGTAGAAAAGCTATAAAATGAATACAATTA
Celera SNP ID:            hCV27540410
SNP Position Transcript:  727
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 169, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4168):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4169):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4170):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4171):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4172):
GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCA
M
GAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAAT
Celera SNP ID:            hCV27532033
SNP Position Transcript:  602
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 127, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:4173):
CTACTGGAAGTACGGGTATGATGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATC
K
CTTCTTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGTTATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGTAGAAAAGCTATAAAATGAATACA
Celera SNP ID:            hCV27530977
SNP Position Transcript:  723
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 168, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4174):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4175):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:899, 53, (M,ATG)   (V,GTG)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252575 - 30000035318942
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790812 - 197000064923453
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:203):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTT
CAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGA
ACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATAYGTVCCAGGTGGAG
CACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCA
TCTTGTTCATTGGAATTTTGTTCATAATATTAAKGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTAYGTCTTAGCTGAACGTGAGTGACACGCAGC
CTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAG
AAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCT
AGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTC
ATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTA
GTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATC
TGTCACYAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTRCACTGCACGAATGGAAGAGGCACCTGTCCCAGAA
AAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGG
CATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTG
GTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCAT
GCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACA
AAAAATTAGCTGGGCGTGGTGGCAGACGCCTSTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGA
GCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTG
AAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGT
TTAGATGCCTAGAATAAATAGAGAAGGAAYGAGA

Protein Sequence    (SEQ ID NO:900):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQP
LIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4176):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4177):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4178):
ACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCAC
Y
AAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCAT
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1507
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:900, None   



Context             (SEQ ID NO:4179):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4180):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4181):
GATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAA
Y
GAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2430
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:900, None   



Context             (SEQ ID NO:4182):
GCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATA
Y
GTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCT
Celera SNP ID:            hCV27529793
SNP Position Transcript:  787
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 189, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4183):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:900, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4184):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTC
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4185):
TCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTA
Y
GTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATG
Celera SNP ID:            hCV25595082
SNP Position Transcript:  971
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:900, 250, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4186):
AAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGT
V
CCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTT
Celera SNP ID:            hCV1085595
SNP Position Transcript:  790
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 190, (Y,TAC)   (C,TGC)      190, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4187):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4188):
TTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGT
R
CACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTG
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1566
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:900, None   



Context             (SEQ ID NO:4189):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4190):
TGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAA
K
GAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  934
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:900, 238, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4191):
GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCT
S
TAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGG
Celera SNP ID:            hCV7579284
SNP Position Transcript:  2132
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:900, None   



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT1952971 - 30000035318919
Public Transcript Accession: NM_000410
Celera Protein:              hCP1765862 - 30000035318894
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25721597)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:204):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGSGCTGTGAAATGC
AAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACC
CAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAG
TTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCAYTCTACGGTGTCGGG
CCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGG
GGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGTGCTGAGATTACAGGTGTGAGCCACCCTGCCCAGCCGTCAAAAGAGTCTTAATATA
TATATCCAGATGGCATGTGTTTACTTTATGTTACTACATGCACTTGGCTGCATAAATGTGGTACAAGCATTCTGTCTTGAAGGGCAGGTGCTTCAGGATA
CCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATCTCTTCTTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGT
TATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGTAGAAAAGCTATAAAATGAATACAATTAAAGCTGTTATTTAATTAGCCAGTGAAAAACTATTAA
CAACTTGTCTATTACCTGTTAGTATTATTGTTGCATTAAAAATGCATATACTTTAATAAATGTACATTGTATTGTA

Protein Sequence    (SEQ ID NO:901):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRG
VLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPVLRLQV


SNP Information

Context             (SEQ ID NO:4192):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4193):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4194):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4195):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4196):
GCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCA
Y
TCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGAC
Celera SNP ID:            hCV3266648
SNP Position Transcript:  886
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:901, None   



Context             (SEQ ID NO:4197):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:901, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4198):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4199):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4200):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 93, (R,CGC)   (G,GGC)      



Context             (SEQ ID NO:4201):
GAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTG
S
GCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAG
Celera SNP ID:            hCV7579284
SNP Position Transcript:  588
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:901, 123, (P,CCA)   (A,GCA)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT1952972 - 30000035318961
Public Transcript Accession: NM_000410
Celera Protein:              hCP1765863 - 30000035318884
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:205):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCTGC
CTCCTTTGGTGAAGGTGACACATCYTGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCRAGAACATCACCATGAAGRGGCT
GAAGGATSAYCAGWCAATGGATGCCAAGGAGYTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTASCC
CCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCA
TTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGG
GCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGYGCVTTTATGAGCT
CTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCA
TTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCKCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGYACCTCAAGCTGCATCTAGAGGCTTCCTTC
ATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAA
CATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCC
TTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTG
TACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCT
TGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTA
TTCCAGYCCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTARGATAAGGATGATAAAAGCACTTACTTCGTGTCCG
ACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAA
AGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGG
CTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGA
GAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAA
AAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACC
GTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGA

Protein Sequence    (SEQ ID NO:902):
MGPRARPALLLLMLLQTAVLQGRLLLPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY
TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4202):
GCTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAG
R
GGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGT
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4203):
GGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGAT
S
AGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4204):
GGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAG
Y
CCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTC
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1507
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:902, None   



Context             (SEQ ID NO:4205):
TCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATG
Y
ACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAA
Celera SNP ID:            hCV25595082
SNP Position Transcript:  971
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:902, 250, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4206):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCTGCCTCCTTTGGTGAAGGTGACACATC
Y
TGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCC
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4207):
GGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGC
V
TTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAA
Celera SNP ID:            hCV1085595
SNP Position Transcript:  790
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 190, (Y,TAC)   (C,TGC)      190, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4208):
CCTGCAGGGGCGCTTGCTGCTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCC
R
AGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGG
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4209):
AGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAG
Y
GCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAA
Celera SNP ID:            hCV27529793
SNP Position Transcript:  787
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 189, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4210):
TGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAA
Y
CAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAG
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:902, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4211):
CTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAG
Y
TCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGT
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4212):
TTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTA
R
GATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGG
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1566
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:902, None   



Context             (SEQ ID NO:4213):
GCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTA
S
CCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGT
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4214):
GGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAG
W
CAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCA
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4215):
TAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATC
K
CTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  934
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:902, 238, (R,AGG)   (M,ATG)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252572 - 30000035318964
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790809 - 197000064923450
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:206):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCMGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAKGCCRGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGT
CCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATT
CTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCC
TACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAYTTVCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGACCACTCTACGGTGTCGGGCCTTGA
ACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTKTTGCCCAATGGGGATGG
GACCTACCAGGGCTGGATAYCCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTG
ATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATAT
TAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAA
CTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGC
CTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCT
CATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGYCATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTC
CTTAAATTTGGGGGRCTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGT
ATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCT
GATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATG
ATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTT
TAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTAT
GATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTASAATAATTCTATGAGATAGG
TACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGT
GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCC
TGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTRGCGCCACTGCACTCCAGCCTA
GGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTG
ATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAG
GAGA

Protein Sequence    (SEQ ID NO:903):
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCP
AQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPS
GTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4216):
GACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCC
R
GCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAG
Celera SNP ID:            hCV27540410
SNP Position Transcript:  242
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 81, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4217):
ATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAG
Y
CATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACC
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1256
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:903, None   



Context             (SEQ ID NO:4218):
CACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATA
Y
CCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTC
Celera SNP ID:            hCV25595082
SNP Position Transcript:  720
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:903, 240, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4219):
GGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTT
V
CTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGG
Celera SNP ID:            hCV1085595
SNP Position Transcript:  539
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 180, (Y,TAC)   (C,TGC)      180, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4220):
GCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTT
R
GCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2179
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:903, None   



Context             (SEQ ID NO:4221):
CCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCA
Y
TTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGA
Celera SNP ID:            hCV27529793
SNP Position Transcript:  536
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 179, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4222):
TGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGG
R
CTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCT
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1315
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:903, None   



Context             (SEQ ID NO:4223):
TACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGT
K
TTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  683
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 228, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4224):
GTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTA
S
AATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT
Celera SNP ID:            hCV7579284
SNP Position Transcript:  1881
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:903, None   



Context             (SEQ ID NO:4225):
GGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCA
K
GCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAA
Celera SNP ID:            hCV27530977
SNP Position Transcript:  238
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 80, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4226):
CTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCC
M
GAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGG
Celera SNP ID:            hCV27532033
SNP Position Transcript:  117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:903, 39, (Q,CAA)   (H,CAC)      



Gene Number:                 82
Celera Gene:                 hCG19119 - 30000035318963
Celera Transcript:           hCT2252581 - 30000035318974
Public Transcript Accession: NM_000410
Celera Protein:              hCP1790808 - 197000064923449
Public Protein Accession:    NP_000401
Gene Symbol:                 HFE
Protein Name:                hemochromatosis;HFE1;HH;HLA-H
Celera Genomic Axis:         GA_x5YUV32VT9V(25711989..25720436)
Chromosome:                  Chr6
OMIM number:                 235200
OMIM Information:            HEMOCHROMATOSIS;HFE


Transcript Sequence (SEQ ID NO:207):
GGGGACACTGGATCACCTAGTGTTTCACAAGCAGGTACCTTCTGCTGTAGGAGAGAGAGAACTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGT
TTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGA
CGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTT
CACACTCTCTGCACTACCTCTTCAYGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACRTGGATGACCAGCTGTTCRTGTT
CTATGATSAYGAGWGTCGCCGTGTGGAGCCCYGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAASGG
TGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGC
AMGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACC
CAGGGCCTGGCCCACCAAGCTGKAGTRGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAG
TTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGA
AGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCC
TGGGGAAGAGCAGAGATATAYGTVCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATT
GGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAKGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGC
ACTAYGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCT
TCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATT
TAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCAT
TTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACA
TCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTT
TGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACYAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTR
CACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTG
AAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATT
CCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGAC
TCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAG
TGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT
AACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTSTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGA
ATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAA
ATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGT
TTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAYGAGA

Protein Sequence    (SEQ ID NO:904):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTV
DFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRG
VLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIA
VFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


SNP Information

Context             (SEQ ID NO:4227):
GCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTC
R
TGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAA
Celera SNP ID:            hCV27541640
SNP Position Transcript:  396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 59, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4228):
TCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGAT
S
ATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCA
Celera SNP ID:            hCV1085600
SNP Position Transcript:  408
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,4)   caucasian(C,32|G,4)   total(C,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 63, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Southern Chinese(G,5|C,188)   Australian Aboriginal(G,9|C,171|C,202|G,-)   Northern Chinese(G,4|C,129)      total(G,18|C,690) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 63, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:4229):
ACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCAC
Y
AAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCAT
Celera SNP ID:            hCV27465032
SNP Position Transcript:  1741
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:904, None   



Context             (SEQ ID NO:4230):
GGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCA
Y
GGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTG
Celera SNP ID:            hCV16175202
SNP Position Transcript:  325
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 35, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4231):
CCTGCAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTAC
R
TGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCA
Celera SNP ID:            hCV27529784
SNP Position Transcript:  378
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 53, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:4232):
GATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAA
Y
GAGA
Celera SNP ID:            hCV3266648
SNP Position Transcript:  2664
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:904, None   



Context             (SEQ ID NO:4233):
TGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCA
Y
GAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACA
Celera SNP ID:            hCV27529785
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:904, 63, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4234):
GCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATA
Y
GTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCT
Celera SNP ID:            hCV27529793
SNP Position Transcript:  1021
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 267, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4235):
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
Celera SNP ID:            hCV27541479
SNP Position Transcript:  498
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 93, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4236):
CTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTG
K
AGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGT
Celera SNP ID:            hCV27530977
SNP Position Transcript:  723
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 168, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:4237):
GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCA
M
GAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCA
Celera SNP ID:            hCV27532033
SNP Position Transcript:  602
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 127, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:4238):
TGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGT
R
GGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTG
Celera SNP ID:            hCV27540410
SNP Position Transcript:  727
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 169, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:4239):
TCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTA
Y
GTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATG
Celera SNP ID:            hCV25595082
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,40)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:904, 328, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4240):
AAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGT
V
CCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTT
Celera SNP ID:            hCV1085595
SNP Position Transcript:  1024
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): UNKNOWN(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(C,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 268, (Y,TAC)   (C,TGC)      268, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:4241):
CTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
Y
GAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGAC
Celera SNP ID:            hCV27528459
SNP Position Transcript:  432
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 71, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:4242):
TTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGT
R
CACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTG
Celera SNP ID:            hCV7579280
SNP Position Transcript:  1800
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:904, None   



Context             (SEQ ID NO:4243):
CTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAG
W
GTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTT
Celera SNP ID:            hCV1085599
SNP Position Transcript:  414
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 65, (S,AGT)   (C,TGT)      



Context             (SEQ ID NO:4244):
TGGGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAA
K
GAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAG
Celera SNP ID:            hCV27862610
SNP Position Transcript:  1168
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:904, 316, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:4245):
GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCT
S
TAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGG
Celera SNP ID:            hCV7579284
SNP Position Transcript:  2366
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:904, None   



Gene Number:                 83
Celera Gene:                 hCG19216 - 104000117400494
Celera Transcript:           hCT1967345 - 104000117400513
Public Transcript Accession: NM_000665
Celera Protein:              hCP1782400 - 197000069406490
Public Protein Accession:    NP_000656
Gene Symbol:                 ACHE
Protein Name:                acetylcholinesterase (YT blood group);YT
Celera Genomic Axis:         GA_x5YUV32VYJC(88085..94735)
Chromosome:                  Chr7
OMIM number:                 100740
OMIM Information:            ACETYLCHOLINESTERASE;ACHE


Transcript Sequence (SEQ ID NO:208):
CGGGGGTTCCAGAAGTTTCCACTGCCGCCGCGGAGTGCGGCCTCGCCCAGCAGCCTTGCGCGTGCTACCACGCTGTCCTGCCTTCTCAGCAGACGCCGCC
TGCCCTGCAGCCATGAGGCCCCCGCAGTGTCTGCTGCACACGCCTTCCCTGGCTTCCCCACTCCTTCTCCTCCTCCTCTGGCTCCTGGGTGGAGGAGTGG
GGGCTGAGGGCCGGGAGGATGCAGAGCTGCTGGTGACGGTGCGTGGGGGCCGGCTGCGGGGCATTCGCCTGAAGACCCCCGGGGGCCCTGTCTCTGCTTT
CCTGGGCATCCCCTTTGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTC
CAGAGTGTCTGCTACYAATATGTGGACACCCTATACCCAGGTTTTSAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACC
TCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGTCCTCGTCTGGATCTATGGGGGTGGCTTCTACAGTGGGGCCTCCTCCTTGGACGT
GTACGATGGCCGCTTCTTGGTACAGGCCGAGAGGACTGTGCTGGTGTCCATGAACTACCGGGTGGGAGCCTTTGGCTTCCTGGCCCTGCCGGGGAGCCGA
GAGGCCCCGGGCAATGTGGGTCTCCTGGATCAGAGGCTGGCCCTGCAGTGGGTGCAGGAGAACGTGGCAGCCTTCGGGGGTGACCCGACATCAGTGACGC
TGTTTGGGGAGAGCGCGGGAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCC
CAATGGACCCTGGGCCACRGTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAAT
GACACAGAGCTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCT
TCGTGCCTGWGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCMACGGCCTGCAGGTGCTGGTGGGTGTGGTGAA
GGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAGCCGGGCCGAGTTCCTGGCCGGGGTGCGGGTC
GGGGTTCCCCAGGTAAGTGACCTGGCAGCCGAGGCTGTGGTCCTGCATTACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGA
GCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGGSTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACA
CCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCYCACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTAC
ACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACTGGGCCAACTTTGCCCGCACAGGGGATCCCAATGAGCCCCGAGACCCCAAGGCCCCAC
AATGGCCCCCGTACACGGCGGGGGCTCAGCAGTACGTTAGTCTGGACCTGCGGCCGCTGGAGGTGCGGCGGGGGCTGCGCGCCCAGGCCTGCGCCTTCTG
GAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGCCTCGGAGGCTCCCAGCACCTGCCCAGGCTTCACCCATGGGGAGGCTGCTCSGAGGCCCGGCCTC
CCCCTGCCCCTCCTCCTCCTCCACCAGCTTCTCCTCCTCTTCCTCTCCCACCTCCGGCGGCTGTGAACACGGCCTCTTCCCCTACGGCCACAGGGGCCCC
TCCTCTAATGAGTGGTCGGACCGTGGGGAAGGGCCCCACTCAGGGATCTCAGACCTAGTGCTCCCTTCCTCCTCAAACCGAGAGACTCACACTGGACAGG
GCAGGAGGAGGGGGCCGTGCCTCCCACCCTTCTCAGGGACCCCCACGCCTTTGTTGTTTGAATGGAAATGGAAAAGCCAGTATTCTTTTATAAAATTATC
TTTTGGAACCTGAGCCTGACATTGGGGGGAAGTGGGAGGCCCCGGACGGGGTAGCACCCCCCATTGGGGCTATAACGGTCAACCATTTCTGTCTCTTCTT
TTTCCCCCAACCTCCCCCTCCTGTCCCCTCTGTTCCCGTCTTCCGGTCATTCTTTTCTCCTCCTCTCTCCTTCCTGCTGTCCTTCTCCGGCCCCGCCTCT
GCCCTCATCCTCCCTCTCGTCTTTCGCACATTCTCCTGATCCTCTTGCCACCGTCCCACGTGGTCGCCTGCATTTCTCCGTGCGTCCTCCCTGCACTCAT
ACCCCCCCTTCAACCCGCCCAAATGTCCGATCCCCGACCTTCCTCGTGCCGTCCTCCCCTCCCGCCTCGCTGGGCGCCCTGGCCGCAGACACGCTCGACG
AGGCGGAGCGCCAGTGGAAGGCCGAGTTCCACCGCTGGAGCTCCTACATGGTGCACTGGAAGAACCAGTTCGACCACTACAGCAAGCAGGATCGCTGCTC
AGACCTGTGACCCCGGCGGGACCCCCATGTCCTCCGCTCCGCCCGGCCCCCTAGCTGTATATACTATTTATTTCAGGGCTGGGCTATAACACAGACGAGC
CCCAGACTCTGCCCATCCCCACCCCACCCCGACGTCCCCCGGGGCTCCCGGTCCTCTGCATGTCTCAGGCTGAGCTCCCTCCCCCGCGGTGCCTTCGCCC
CTCTGGGCTGCCAATAAACTGTTACAGCC

Protein Sequence    (SEQ ID NO:905):
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVC
YQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPG
NVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTEL
VACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQ
VSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEE
KIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATASEAPSTCPGFTHGEAARRPGLPLPL
LLLHQLLLLFLSHLRRL


SNP Information

Context             (SEQ ID NO:4246):
GAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCAC
R
GTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCT
Celera SNP ID:            hCV25595369
SNP Position Transcript:  919
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:905, 269, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:905, 269, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4247):
GCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTGTGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTC
M
ACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAG
Celera SNP ID:            hCV8786419
SNP Position Transcript:  1169
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(A,3|C,37)   total(A,4|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 353, (N,AAC)   (H,CAC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): European(C,-|A,-)   Middle East(C,-|A,-)    ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 353, (N,AAC)   (H,CAC)      



Context             (SEQ ID NO:4248):
TGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTAC
Y
AATATGTGGACACCCTATACCCAGGTTTTGAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACC
Celera SNP ID:            hCV8786518
SNP Position Transcript:  416
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 102, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:4249):
AGCTGGCTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCC
Y
CACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACT
Celera SNP ID:            hCV8786526
SNP Position Transcript:  1543
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,37|T,3)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:905, 477, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): European(T,-|C,-)   Middle East(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:905, 477, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4250):
CTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTG
W
GGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCCACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGC
Celera SNP ID:            hCV8786519
SNP Position Transcript:  1110
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 333, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:4251):
TACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGG
S
TGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCCCACGGC
Celera SNP ID:            hCV25595380
SNP Position Transcript:  1449
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 446, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:4252):
TCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTACCAATATGTGGACACCCTATACCCAGGTTTT
S
AGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGT
Celera SNP ID:            hCV25595357
SNP Position Transcript:  446
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 112, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4253):
GCCTGCGCCTTCTGGAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGCCTCGGAGGCTCCCAGCACCTGCCCAGGCTTCACCCATGGGGAGGCTGCTC
S
GAGGCCCGGCCTCCCCCTGCCCCTCCTCCTCCTCCACCAGCTTCTCCTCCTCTTCCTCTCCCACCTCCGGCGGCTGTGAACACGGCCTCTTCCCCTACGG
Celera SNP ID:            hCV27168953
SNP Position Transcript:  1887
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:905, 592, (P,CCG)   (R,CGG)      



Gene Number:                 83
Celera Gene:                 hCG19216 - 104000117400494
Celera Transcript:           hCT1967346 - 104000117400522
Public Transcript Accession: NM_000665
Celera Protein:              hCP1782402 - 197000069406491
Public Protein Accession:    NP_000656
Gene Symbol:                 ACHE
Protein Name:                acetylcholinesterase (YT blood group);YT
Celera Genomic Axis:         GA_x5YUV32VYJC(88085..94741)
Chromosome:                  Chr7
OMIM number:                 100740
OMIM Information:            ACETYLCHOLINESTERASE;ACHE


Transcript Sequence (SEQ ID NO:209):
CGGGGGTTCCAGAAGTTTCCACTGCCGCCGCGGAGTGCGGCCTCGCCCAGCAGCCTTGCGCGTGCTACCACGCTGTCCTGCCTTCTCAGCAGACGCCGCC
TGCCCTGCAGCCATGAGGCCCCCGCAGTGTCTGCTGCACACGCCTTCCCTGGCTTCCCCACTCCTTCTCCTCCTCCTCTGGCTCCTGGGTGGAGGAGTGG
GGGCTGAGGGCCGGGAGGATGCAGAGCTGCTGGTGACGGTGCGTGGGGGCCGGCTGCGGGGCATTCGCCTGAAGACCCCCGGGGGCCCTGTCTCTGCTTT
CCTGGGCATCCCCTTTGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTC
CAGAGTGTCTGCTACYAATATGTGGACACCCTATACCCAGGTTTTSAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACC
TCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGTCCTCGTCTGGATCTATGGGGGTGGCTTCTACAGTGGGGCCTCCTCCTTGGACGT
GTACGATGGCCGCTTCTTGGTACAGGCCGAGAGGACTGTGCTGGTGTCCATGAACTACCGGGTGGGAGCCTTTGGCTTCCTGGCCCTGCCGGGGAGCCGA
GAGGCCCCGGGCAATGTGGGTCTCCTGGATCAGAGGCTGGCCCTGCAGTGGGTGCAGGAGAACGTGGCAGCCTTCGGGGGTGACCCGACATCAGTGACGC
TGTTTGGGGAGAGCGCGGGAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCC
CAATGGACCCTGGGCCACRGTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAAT
GACACAGAGCTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCT
TCGTGCCTGWGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCMACGGCCTGCAGGTGCTGGTGGGTGTGGTGAA
GGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAGCCGGGCCGAGTTCCTGGCCGGGGTGCGGGTC
GGGGTTCCCCAGGTAAGTGACCTGGCAGCCGAGGCTGTGGTCCTGCATTACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGA
GCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGGSTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACA
CCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCYCACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTAC
ACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACTGGGCCAACTTTGCCCGCACAGGGGATCCCAATGAGCCCCGAGACCCCAAGGCCCCAC
AATGGCCCCCGTACACGGCGGGGGCTCAGCAGTACGTTAGTCTGGACCTGCGGCCGCTGGAGGTGCGGCGGGGGCTGCGCGCCCAGGCCTGCGCCTTCTG
GAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGACACGCTCGACGAGGCGGAGCGCCAGTGGAAGGCCGAGTTCCACCGCTGGAGCTCCTACATGGTG
CACTGGAAGAACCAGTTCGACCACTACAGCAAGCAGGATCGCTGCTCAGACCTGTGACCCCGGCGGGACCCCCATGTCCTCCGCTCCGCCCGGCCCCCTA
GCTGTATATACTATTTATTTCAGGGCTGGGCTATAACACAGACGAGCCCCAGACTCTGCCCATCCCCACCCCACCCCGACGTCCCCCGGGGCTCCCGGTC
CTCTGCATGTCTCAGGCTGAGCTCCCTCCCCCGCGGTGCCTTCGCCCCTCTGGGCTGCCAATAAACTGTTACAGCCACGGGA

Protein Sequence    (SEQ ID NO:906):
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVC
YQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPG
NVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTEL
VACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQ
VSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEE
KIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKN
QFDHYSKQDRCSDL


SNP Information

Context             (SEQ ID NO:4254):
AGCTGGCTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCC
Y
CACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACT
Celera SNP ID:            hCV8786526
SNP Position Transcript:  1543
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,37|T,3)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:906, 477, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): European(T,-|C,-)   Middle East(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:906, 477, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4255):
GAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCAC
R
GTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCT
Celera SNP ID:            hCV25595369
SNP Position Transcript:  919
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:906, 269, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:906, 269, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4256):
TGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTAC
Y
AATATGTGGACACCCTATACCCAGGTTTTGAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACC
Celera SNP ID:            hCV8786518
SNP Position Transcript:  416
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 102, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:4257):
CTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTG
W
GGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCCACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGC
Celera SNP ID:            hCV8786519
SNP Position Transcript:  1110
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 333, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:4258):
TACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGG
S
TGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCCCACGGC
Celera SNP ID:            hCV25595380
SNP Position Transcript:  1449
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 446, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:4259):
TCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTACCAATATGTGGACACCCTATACCCAGGTTTT
S
AGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGT
Celera SNP ID:            hCV25595357
SNP Position Transcript:  446
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 112, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4260):
GCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTGTGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTC
M
ACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAG
Celera SNP ID:            hCV8786419
SNP Position Transcript:  1169
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(A,3|C,37)   total(A,4|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 353, (N,AAC)   (H,CAC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): European(C,-|A,-)   Middle East(C,-|A,-)    ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:906, 353, (N,AAC)   (H,CAC)      



Gene Number:                 83
Celera Gene:                 hCG19216 - 104000117400494
Celera Transcript:           hCT10282 - 104000117400495
Public Transcript Accession: NM_000665
Celera Protein:              hCP38158 - 197000069406488
Public Protein Accession:    NP_000656
Gene Symbol:                 ACHE
Protein Name:                acetylcholinesterase (YT blood group);YT
Celera Genomic Axis:         GA_x5YUV32VYJC(88816..94741)
Chromosome:                  Chr7
OMIM number:                 100740
OMIM Information:            ACETYLCHOLINESTERASE;ACHE


Transcript Sequence (SEQ ID NO:210):
CGGGGGGCCGGAGGCGGCGGCTGTCAGAGTCGGCTCAGCCTGCGCCGGGGAACATCGGCCGCCTCCAGCTCCCGGCGCGGCCCGGCCCGGCCCGGCTCGG
CCGCCTCAGACGCCGCCTGCCCTGCAGCCATGAGGCCCCCGCAGTGTCTGCTGCACACGCCTTCCCTGGCTTCCCCACTCCTTCTCCTCCTCCTCTGGCT
CCTGGGTGGAGGAGTGGGGGCTGAGGGCCGGGAGGATGCAGAGCTGCTGGTGACGGTGCGTGGGGGCCGGCTGCGGGGCATTCGCCTGAAGACCCCCGGG
GGCCCTGTCTCTGCTTTCCTGGGCATCCCCTTTGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGG
TAGACGCTACAACCTTCCAGAGTGTCTGCTACYAATATGTGGACACCCTATACCCAGGTTTTSAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAG
CGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGTCCTCGTCTGGATCTATGGGGGTGGCTTCTACAGTGGG
GCCTCCTCCTTGGACGTGTACGATGGCCGCTTCTTGGTACAGGCCGAGAGGACTGTGCTGGTGTCCATGAACTACCGGGTGGGAGCCTTTGGCTTCCTGG
CCCTGCCGGGGAGCCGAGAGGCCCCGGGCAATGTGGGTCTCCTGGATCAGAGGCTGGCCCTGCAGTGGGTGCAGGAGAACGTGGCAGCCTTCGGGGGTGA
CCCGACATCAGTGACGCTGTTTGGGGAGAGCGCGGGAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTG
CTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCACRGTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAG
GCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAG
CGTCTTCCGGTTCTCCTTCGTGCCTGWGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCMACGGCCTGCAGGTG
CTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAGCCGGGCCGAGTTCC
TGGCCGGGGTGCGGGTCGGGGTTCCCCAGGTAAGTGACCTGGCAGCCGAGGCTGTGGTCCTGCATTACACAGACTGGCTGCATCCCGAGGACCCGGCACG
CCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGGSTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTAC
GCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCYCACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGG
ACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACTGGGCCAACTTTGCCCGCACAGGGGATCCCAATGAGCCCCG
AGACCCCAAGGCCCCACAATGGCCCCCGTACACGGCGGGGGCTCAGCAGTACGTTAGTCTGGACCTGCGGCCGCTGGAGGTGCGGCGGGGGCTGCGCGCC
CAGGCCTGCGCCTTCTGGAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGACACGCTCGACGAGGCGGAGCGCCAGTGGAAGGCCGAGTTCCACCGCT
GGAGCTCCTACATGGTGCACTGGAAGAACCAGTTCGACCACTACAGCAAGCAGGATCGCTGCTCAGACCTGTGACCCCGGCGGGACCCCCATGTCCTCCG
CTCCGCCCGGCCCCCTAGCTGTATATACTATTTATTTCAGGGCTGGGCTATAACACAGACGAGCCCCAGACTCTGCCCATCCCCACCCCACCCCGACGTC
CCCCGGGGCTCCCGGTCCTCTGCATGTCTCAGGCTGAGCTCCCTCCCCCGCGGTGCCTTCGCCCCTCTGGGCTGCCAATAAACTGTTACAGCCACGGGA

Protein Sequence    (SEQ ID NO:907):
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVC
YQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPG
NVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTEL
VACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQ
VSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEE
KIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKN
QFDHYSKQDRCSDL


SNP Information

Context             (SEQ ID NO:4261):
AGCTGGCTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCC
Y
CACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACT
Celera SNP ID:            hCV8786526
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,37|T,3)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:907, 477, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): European(T,-|C,-)   Middle East(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:907, 477, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4262):
GAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCAC
R
GTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCT
Celera SNP ID:            hCV25595369
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:907, 269, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:907, 269, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4263):
TGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTAC
Y
AATATGTGGACACCCTATACCCAGGTTTTGAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACC
Celera SNP ID:            hCV8786518
SNP Position Transcript:  433
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 102, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:4264):
CTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTG
W
GGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCCACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGC
Celera SNP ID:            hCV8786519
SNP Position Transcript:  1127
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 333, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:4265):
TACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGG
S
TGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCCCACGGC
Celera SNP ID:            hCV25595380
SNP Position Transcript:  1466
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 446, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:4266):
TCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTACCAATATGTGGACACCCTATACCCAGGTTTT
S
AGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGT
Celera SNP ID:            hCV25595357
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 112, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4267):
GCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTGTGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTC
M
ACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAG
Celera SNP ID:            hCV8786419
SNP Position Transcript:  1186
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(A,3|C,37)   total(A,4|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 353, (N,AAC)   (H,CAC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): European(C,-|A,-)   Middle East(C,-|A,-)    ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:907, 353, (N,AAC)   (H,CAC)      



Gene Number:                 83
Celera Gene:                 hCG19216 - 104000117400494
Celera Transcript:           hCT2320759 - 104000117400504
Public Transcript Accession: NM_000665
Celera Protein:              hCP1873225 - 197000069406489
Public Protein Accession:    NP_000656
Gene Symbol:                 ACHE
Protein Name:                acetylcholinesterase (YT blood group);YT
Celera Genomic Axis:         GA_x5YUV32VYJC(88816..94735)
Chromosome:                  Chr7
OMIM number:                 100740
OMIM Information:            ACETYLCHOLINESTERASE;ACHE


Transcript Sequence (SEQ ID NO:211):
CGGGGGGCCGGAGGCGGCGGCTGTCAGAGTCGGCTCAGCCTGCGCCGGGGAACATCGGCCGCCTCCAGCTCCCGGCGCGGCCCGGCCCGGCCCGGCTCGG
CCGCCTCAGACGCCGCCTGCCCTGCAGCCATGAGGCCCCCGCAGTGTCTGCTGCACACGCCTTCCCTGGCTTCCCCACTCCTTCTCCTCCTCCTCTGGCT
CCTGGGTGGAGGAGTGGGGGCTGAGGGCCGGGAGGATGCAGAGCTGCTGGTGACGGTGCGTGGGGGCCGGCTGCGGGGCATTCGCCTGAAGACCCCCGGG
GGCCCTGTCTCTGCTTTCCTGGGCATCCCCTTTGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGG
TAGACGCTACAACCTTCCAGAGTGTCTGCTACYAATATGTGGACACCCTATACCCAGGTTTTSAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAG
CGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGTCCTCGTCTGGATCTATGGGGGTGGCTTCTACAGTGGG
GCCTCCTCCTTGGACGTGTACGATGGCCGCTTCTTGGTACAGGCCGAGAGGACTGTGCTGGTGTCCATGAACTACCGGGTGGGAGCCTTTGGCTTCCTGG
CCCTGCCGGGGAGCCGAGAGGCCCCGGGCAATGTGGGTCTCCTGGATCAGAGGCTGGCCCTGCAGTGGGTGCAGGAGAACGTGGCAGCCTTCGGGGGTGA
CCCGACATCAGTGACGCTGTTTGGGGAGAGCGCGGGAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTG
CTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCACRGTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAG
GCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAG
CGTCTTCCGGTTCTCCTTCGTGCCTGWGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCMACGGCCTGCAGGTG
CTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAGCCGGGCCGAGTTCC
TGGCCGGGGTGCGGGTCGGGGTTCCCCAGGTAAGTGACCTGGCAGCCGAGGCTGTGGTCCTGCATTACACAGACTGGCTGCATCCCGAGGACCCGGCACG
CCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGGSTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTAC
GCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCYCACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGG
ACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACTGGGCCAACTTTGCCCGCACAGGGGATCCCAATGAGCCCCG
AGACCCCAAGGCCCCACAATGGCCCCCGTACACGGCGGGGGCTCAGCAGTACGTTAGTCTGGACCTGCGGCCGCTGGAGGTGCGGCGGGGGCTGCGCGCC
CAGGCCTGCGCCTTCTGGAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGCCTCGGAGGCTCCCAGCACCTGCCCAGGCTTCACCCATGGGGAGGCTG
CTCSGAGGCCCGGCCTCCCCCTGCCCCTCCTCCTCCTCCACCAGCTTCTCCTCCTCTTCCTCTCCCACCTCCGGCGGCTGTGAACACGGCCTCTTCCCCT
ACGGCCACAGGGGCCCCTCCTCTAATGAGTGGTCGGACCGTGGGGAAGGGCCCCACTCAGGGATCTCAGACCTAGTGCTCCCTTCCTCCTCAAACCGAGA
GACTCACACTGGACAGGGCAGGAGGAGGGGGCCGTGCCTCCCACCCTTCTCAGGGACCCCCACGCCTTTGTTGTTTGAATGGAAATGGAAAAGCCAGTAT
TCTTTTATAAAATTATCTTTTGGAACCTGAGCCTGACATTGGGGGGAAGTGGGAGGCCCCGGACGGGGTAGCACCCCCCATTGGGGCTATAACGGTCAAC
CATTTCTGTCTCTTCTTTTTCCCCCAACCTCCCCCTCCTGTCCCCTCTGTTCCCGTCTTCCGGTCATTCTTTTCTCCTCCTCTCTCCTTCCTGCTGTCCT
TCTCCGGCCCCGCCTCTGCCCTCATCCTCCCTCTCGTCTTTCGCACATTCTCCTGATCCTCTTGCCACCGTCCCACGTGGTCGCCTGCATTTCTCCGTGC
GTCCTCCCTGCACTCATACCCCCCCTTCAACCCGCCCAAATGTCCGATCCCCGACCTTCCTCGTGCCGTCCTCCCCTCCCGCCTCGCTGGGCGCCCTGGC
CGCAGACACGCTCGACGAGGCGGAGCGCCAGTGGAAGGCCGAGTTCCACCGCTGGAGCTCCTACATGGTGCACTGGAAGAACCAGTTCGACCACTACAGC
AAGCAGGATCGCTGCTCAGACCTGTGACCCCGGCGGGACCCCCATGTCCTCCGCTCCGCCCGGCCCCCTAGCTGTATATACTATTTATTTCAGGGCTGGG
CTATAACACAGACGAGCCCCAGACTCTGCCCATCCCCACCCCACCCCGACGTCCCCCGGGGCTCCCGGTCCTCTGCATGTCTCAGGCTGAGCTCCCTCCC
CCGCGGTGCCTTCGCCCCTCTGGGCTGCCAATAAACTGTTACAGCC

Protein Sequence    (SEQ ID NO:908):
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVC
YQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPG
NVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTEL
VACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQ
VSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEE
KIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATASEAPSTCPGFTHGEAARRPGLPLPL
LLLHQLLLLFLSHLRRL


SNP Information

Context             (SEQ ID NO:4268):
GAGCCGCCTCGGTGGGCATGCACCTGCTGTCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCAC
R
GTGGGCATGGGAGAGGCCCGTCGCAGGGCCACGCAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCT
Celera SNP ID:            hCV25595369
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:908, 269, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:908, 269, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4269):
GCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTGTGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTC
M
ACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATCAG
Celera SNP ID:            hCV8786419
SNP Position Transcript:  1186
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(A,3|C,37)   total(A,4|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 353, (N,AAC)   (H,CAC)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): European(C,-|A,-)   Middle East(C,-|A,-)    ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 353, (N,AAC)   (H,CAC)      



Context             (SEQ ID NO:4270):
TGCGGAGCCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTAC
Y
AATATGTGGACACCCTATACCCAGGTTTTGAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACC
Celera SNP ID:            hCV8786518
SNP Position Transcript:  433
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 102, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:4271):
AGCTGGCTGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCC
Y
CACGGCTACGAGATCGAGTTCATCTTTGGGATCCCCCTGGACCCCTCTCGAAACTACACGGCAGAGGAGAAAATCTTCGCCCAGCGACTGATGCGATACT
Celera SNP ID:            hCV8786526
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,37|T,3)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:908, 477, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): European(T,-|C,-)   Middle East(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:908, 477, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4272):
CTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCACGAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTG
W
GGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGAGACTTCCACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGC
Celera SNP ID:            hCV8786519
SNP Position Transcript:  1127
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 333, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:4273):
TACACAGACTGGCTGCATCCCGAGGACCCGGCACGCCTGAGGGAGGCCCTGAGCGATGTGGTGGGCGACCACAATGTCGTGTGCCCCGTGGCCCAGCTGG
S
TGGGCGACTGGCTGCCCAGGGTGCCCGGGTCTACGCCTACGTCTTTGAACACCGTGCTTCCACGCTCTCCTGGCCCCTGTGGATGGGGGTGCCCCACGGC
Celera SNP ID:            hCV25595380
SNP Position Transcript:  1466
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 446, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:4274):
TCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTACCAATATGTGGACACCCTATACCCAGGTTTT
S
AGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACATCCCCCACCCCTGT
Celera SNP ID:            hCV25595357
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 112, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4275):
GCCTGCGCCTTCTGGAACCGCTTCCTCCCCAAATTGCTCAGCGCCACCGCCTCGGAGGCTCCCAGCACCTGCCCAGGCTTCACCCATGGGGAGGCTGCTC
S
GAGGCCCGGCCTCCCCCTGCCCCTCCTCCTCCTCCACCAGCTTCTCCTCCTCTTCCTCTCCCACCTCCGGCGGCTGTGAACACGGCCTCTTCCCCTACGG
Celera SNP ID:            hCV27168953
SNP Position Transcript:  1904
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:908, 592, (P,CCG)   (R,CGG)      



Gene Number:                 84
Celera Gene:                 hCG19417 - 79000075877786
Celera Transcript:           hCT10488 - 79000075877787
Public Transcript Accession: NM_001278
Celera Protein:              hCP37140 - 197000069450514
Public Protein Accession:    NP_001269
Gene Symbol:                 CHUK
Protein Name:                conserved helix-loop-helix ubiquitous kinase;IKBKA;IKK-alpha;IKK1;IKKA;NFKBIKA;TCF16
Celera Genomic Axis:         GA_x54KRFTF114(32129433..32170761)
Chromosome:                  Chr10
OMIM number:                 600664
OMIM Information:            CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE;CHUK


Transcript Sequence (SEQ ID NO:212):
GACGCGCGAGCATCGGCGGCCCGGAACCGGCCTTGGAACAACTGTGGAACCTGAGGCCGCTTGCCCTCCCGCCCCATGGAGCGGCCCCCGGGGCTGCGGC
CGGGCGCGGGCGGGCCCTGGGAGATGCGGGAGCGGCTGGGCACCGGCGGCTTCGGGAACGTCTGTCTGTACCAGCATCGGGAACTTGATCTCAAAATAGC
AATTAAGTCTTGTCGCCTAGAGCTAAGTACCAAAAACAGAGAACGATGGTGCCATGAAATCCAGATTATGAAGAAGTTGAACCATGCCAATGTTGTAAAG
GCCTGTGATGTTCCTGAAGAATTGAATATTTTGATTCATGATGTGCCTCTTCTAGCAATGGAATACTGTTCTGGAGGAGATCTCCGAAAGCTGCTCAACA
AACCAGAAAATTGTTGTGGACTTAAAGAAAGCCAGATACTTTCTTTACTAAGTGATATAGGRTCTGGGATTCGATATTTGCATGAAAACAAAATTATACA
TCGAGATCTAAAACCTGAAAACATAGTTCTTCAGGATGTTGGTGGAAAGATAATACATAAAATAATTGATCTGGGATATGCCAAAGATGTTGATCAAGGA
AGTCTGTGTACATCTTTTGTGGGAACACTGCAGTATCTGGCCCCAGAGCTCTTTGAGAATAAGCCTTACACAGCCACTGTTGATTATTGGAGCTTTGGGA
CCATGGTATTTGAATGTATTGCTGGATATAGGCCTTTTTTGCATCATCTGCAGCCATTTACCTGGCATGAGAAGATTAAGAAGAAGGATCCAAAGTGTAT
ATTTGCATGTGAAGAGATGTCAGGAGAAGTTCGGTTTAGTAGCCATTTACCTCAACCAAATAGCCTTTGTAGTTTARTAGTAGAACCCATGGAAAACTGG
CTACASTTGATGTTGAATTGGGACCCTCAGCAGAGAGGAGGACCTGTTGACCTTACTTTGAAGCAGCCAAGATGTTTTGTATTAATGGATCACATTTTGA
ATTTGAAGATAGTACACATCCTAAATATGACTTCTGCAAAGATAATTTCTTTTCTGTTACCACCTGATGAAAGTCTTCATTCACTACAGTCTCGTATTGA
GCGTGAAACTGGAATAAATACTGGTTCTCAAGAACTTCTTTCAGAGACAGGAATTTCTCTGGATCCTCGGAAACCAGCCTCTCAATGTGTTCTAGATGGA
GTTAGAGGCTGTGATAGCTATATGGTTTATTTGTTTGATAAAAGTAAAACTGTATATGAAGGGCCATTTGCTTCCAGAAGTTTATCTGATTGTGTAAATT
ATATTGTACAGGACAGCAAAATACAGCTTCCAATTATACAGCTGCGTAAAGTGTGGGCTGAAGCAGTGCACTATGTGTCTGGACTAAAAGAAGACTATAG
CAGGCTCTTTCAGGGRCAAAGGGCAGCAATGTTAAGTCTTCTTAGATATAATGCTAACTTAACAAAAATGAAGAACACTTTGATCTCAGCATCACAACAA
CTGAAAGCTAAATTGGAGTTTTTTCACAAAAGYATTCAGCTTGACTTGGAGAGATACAGCGAGCAGATGACGTATGGRATATCTTCAGAAAAAATGCTAA
AAGCATGGAAAGAAATGGAAGAAAAGGCCATCCACTATGCTGAGGTTGGTGTCATTGGATACCTGGAGGATCAGATTATGTCTTTGCATGCTGAAATCAT
GGAGCTACAGAAGAGCCCCTATGGAAGACGTCAGGGAGACTTGATGGAATCTCTGGAACAGCGTGCCATTGATCTATATAAGCAGTTAAAACACAGACCT
TCAGATCACTCCTACAGTGACAGCACAGAGATGGTGAAAATCATTGTGCACACTGTGCAGAGTCAGGACCGTGTGCTCAAGGAGCTGTTTGGTCATTTGA
GCAAGTTGTTGGGCTGTAAGCAGAAGATTATTGATCTACTCCCTAAGGTGGAAGTGGCCCTCAGTAATATCAAAGAAGCTGACAATACTGTCATGTTCAT
GCAGGGAAAAAGGCAGAAAGAAATATGGCATCTCCTTAAAATTGCCTGTACACAGAGTTCTGCCCGGTCCCTTGTAGGATCCAGTCTAGAAGGTGCAGTA
ACCCCTCAGACATCAGCATGGCTGCCCCCGACTTCAGCAGAACATGATCATTCTCTGTCATGTGTGGTAACTCCTCAAGATGGGGAGACTTCAGCACAAA
TGATAGAAGAAAATTTGAACTGCCTTGGCCATTTAAGCACTATTATTCATGAGGCAAATGAGGAACAGGGCAATAGTATGATGAATCTTGATTGGAGTTG
GTTAACAGAATGAGTTGTCACTTGTTCACTGTCCCCAAACCTATGGAAGTTGTTGCTATACATGTTGGAAATGTGTTTTTCCCCCATGAAACCATTCTTC
AGACATCAGTCAATGGAAGAAATGGCTATGAACAGAAACTACATTTCTACTATGATCAGAAGAACATGATTTTACAAGTATAACAGTTTTGAGTAATTCA
AGCCTCTAAACAGACAGGAATTTAGAAAAAGTCAATGTACTTGTTTGAATATTTGTTTTAATACCACAGCTATTTAGAAGCATCATCACGACACATTTGC
CTTCAGTCTTGGTAAAACATTACTTATTTAACTGATTAAAAATACCTTCTATGTATTAGTGTCAACTTTTAACTTTTGGGCGTAAGACCAAATGTAGTTT
TGTATACAGAGAAGAAAACCTCAAGTAATAGGCATTTTAAGTAAAAGTCTACCTGTGTTTTTTTCTAAAAAGGCTGCTCACAAGTTCTATTTCTTGAAGA
ATAAATTCTACCTCCTTGTGTTGCACTGAACAGGTTCTCTTCCTGGCATCATAAGGAGTTGGTGTAATCATTTTAAATTCCACTGAAAATTTAACAGTAT
CCCCTTCTCATCGAAGGGATTGTGTATCTGTGCTTCTAATMTTAGTTGGCTTTCATAAATCATGTTGKTGTGTGTATATGTATTTAAGATGTACATTTAA
TAATATCAAAGAGAAGATGCCTGTTAATTTATAATGTATTTGAAAATTACATGTTTTTTCATTTGTAAAAATGAGTCATTTGTTTAAACAATCTTTCATG
TCTTGTCATACAAATTTATAAAGGTCTGCACTCCTTTATCTGTAATTGTAATTCCAAAATCCAAAAAGCTCTGAAAACAAGGTTTCCATAAGCTTGGTGA
CAAAATTCATTTGCTTGCAATCTAATCTGAACTGACCTTGAATCTTTTTATCCCATTTAGTGTGAATATTCCTTTATTTTGCTGCTTGATGATGAGAGGG
AGGGCTGCTGCCACAKACTGTGGTGAGGGCTGGTTAATGTAGTATGGTATATGCACAAAACTACTTTTCTAAAATCTAAAATTTCATAATTCTGAAACAA
CTTGCCCCAAGGGTTTCAGAGAAAGGACTGTGGACCTCTATCATCTGCTAAGTAATTTAGAAGATATTATTTGTCTTAAAAAATGTGAAATGCTTTTATA
TTCTAATAGTTTTTCACTTTGTGTATTAAATGGTTTTTAAATTACTTTCTTGATCTCTATTCATTATAAAAATCAGATTATAATAAAACAGTTGAATATG
GCTTAGGAAAATATGAAG

Protein Sequence    (SEQ ID NO:909):
MERPPGLRPGAGGPWEMRERLGTGGFGNVCLYQHRELDLKIAIKSCRLELSTKNRERWCHEIQIMKKLNHANVVKACDVPEELNILIHDVPLLAMEYCSG
GDLRKLLNKPENCCGLKESQILSLLSDIGSGIRYLHENKIIHRDLKPENIVLQDVGGKIIHKIIDLGYAKDVDQGSLCTSFVGTLQYLAPELFENKPYTA
TVDYWSFGTMVFECIAGYRPFLHHLQPFTWHEKIKKKDPKCIFACEEMSGEVRFSSHLPQPNSLCSLVVEPMENWLQLMLNWDPQQRGGPVDLTLKQPRC
FVLMDHILNLKIVHILNMTSAKIISFLLPPDESLHSLQSRIERETGINTGSQELLSETGISLDPRKPASQCVLDGVRGCDSYMVYLFDKSKTVYEGPFAS
RSLSDCVNYIVQDSKIQLPIIQLRKVWAEAVHYVSGLKEDYSRLFQGQRAAMLSLLRYNANLTKMKNTLISASQQLKAKLEFFHKSIQLDLERYSEQMTY
GISSEKMLKAWKEMEEKAIHYAEVGVIGYLEDQIMSLHAEIMELQKSPYGRRQGDLMESLEQRAIDLYKQLKHRPSDHSYSDSTEMVKIIVHTVQSQDRV
LKELFGHLSKLLGCKQKIIDLLPKVEVALSNIKEADNTVMFMQGKRQKEIWHLLKIACTQSSARSLVGSSLEGAVTPQTSAWLPPTSAEHDHSLSCVVTP
QDGETSAQMIEENLNCLGHLSTIIHEANEEQGNSMMNLDWSWLTE


SNP Information

Context             (SEQ ID NO:4276):
TAAGTCTTCTTAGATATAATGCTAACTTAACAAAAATGAAGAACACTTTGATCTCAGCATCACAACAACTGAAAGCTAAATTGGAGTTTTTTCACAAAAG
Y
ATTCAGCTTGACTTGGAGAGATACAGCGAGCAGATGACGTATGGGATATCTTCAGAAAAAATGCTAAAAGCATGGAAAGAAATGGAAGAAAAGGCCATCC
Celera SNP ID:            hCV25592849
SNP Position Transcript:  1533
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,27|T,5)   total(C,65|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:909, 486, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:4277):
AAATTCCACTGAAAATTTAACAGTATCCCCTTCTCATCGAAGGGATTGTGTATCTGTGCTTCTAATATTAGTTGGCTTTCATAAATCATGTTGTTGTGTG
T
ATATGTATTTAAGATGTACATTTAATAATATCAAAGAGAAGATGCCTGTTAATTTATAATGTATTTGAAAATTACATGTTTTTTCATTTGTAAAAATGAG
Celera SNP ID:            hCV27434016
SNP Position Transcript:  2975
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,4)   total(T,4|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:909, None   



Context             (SEQ ID NO:4278):
TAAGAAGAAGGATCCAAAGTGTATATTTGCATGTGAAGAGATGTCAGGAGAAGTTCGGTTTAGTAGCCATTTACCTCAACCAAATAGCCTTTGTAGTTTA
R
TAGTAGAACCCATGGAAAACTGGCTACAGTTGATGTTGAATTGGGACCCTCAGCAGAGAGGAGGACCTGTTGACCTTACTTTGAAGCAGCCAAGATGTTT
Celera SNP ID:            hCV1345898
SNP Position Transcript:  877
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,17|G,19)   total(A,42|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:909, 268, (I,ATA)   (V,GTA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2)Caucasian(A,148|G,160)   Chinese(G,14|A,18)   Japanese(A,4|G,10)   African(G,28|A,72)    ;no_pop(G,-|A,-)   ;JBIC-allele(A,632|G,663)   total(G,663|A,632)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:909, 268, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:4279):
AATTCCACTGAAAATTTAACAGTATCCCCTTCTCATCGAAGGGATTGTGTATCTGTGCTTCTAATATTAGTTGGCTTTCATAAATCATGTTGTTGTGTGT
A
TATGTATTTAAGATGTACATTTAATAATATCAAAGAGAAGATGCCTGTTAATTTATAATGTATTTGAAAATTACATGTTTTTTCATTTGTAAAAATGAGT
Celera SNP ID:            hCV27434017
SNP Position Transcript:  2976
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|A,4)   total(A,4|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:909, None   



Context             (SEQ ID NO:4280):
CTTTGATCTCAGCATCACAACAACTGAAAGCTAAATTGGAGTTTTTTCACAAAAGCATTCAGCTTGACTTGGAGAGATACAGCGAGCAGATGACGTATGG
R
ATATCTTCAGAAAAAATGCTAAAAGCATGGAAAGAAATGGAAGAAAAGGCCATCCACTATGCTGAGGTTGGTGTCATTGGATACCTGGAGGATCAGATTA
Celera SNP ID:            hCV15836819
SNP Position Transcript:  1578
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:909, 501, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:4281):
AATACTGTTCTGGAGGAGATCTCCGAAAGCTGCTCAACAAACCAGAAAATTGTTGTGGACTTAAAGAAAGCCAGATACTTTCTTTACTAAGTGATATAGG
R
TCTGGGATTCGATATTTGCATGAAAACAAAATTATACATCGAGATCTAAAACCTGAAAACATAGTTCTTCAGGATGTTGGTGGAAAGATAATACATAAAA
Celera SNP ID:            hCV25592833
SNP Position Transcript:  462
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,37)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:909, 129, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:4282):
TGCAATCTAATCTGAACTGACCTTGAATCTTTTTATCCCATTTAGTGTGAATATTCCTTTATTTTGCTGCTTGATGATGAGAGGGAGGGCTGCTGCCACA
K
ACTGTGGTGAGGGCTGGTTAATGTAGTATGGTATATGCACAAAACTACTTTTCTAAAATCTAAAATTTCATAATTCTGAAACAACTTGCCCCAAGGGTTT
Celera SNP ID:            hCV8734131
SNP Position Transcript:  3316
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:909, None   



Context             (SEQ ID NO:4283):
TCATTTTAAATTCCACTGAAAATTTAACAGTATCCCCTTCTCATCGAAGGGATTGTGTATCTGTGCTTCTAATATTAGTTGGCTTTCATAAATCATGTTG
K
TGTGTGTATATGTATTTAAGATGTACATTTAATAATATCAAAGAGAAGATGCCTGTTAATTTATAATGTATTTGAAAATTACATGTTTTTTCATTTGTAA
Celera SNP ID:            hCV1858714
SNP Position Transcript:  2968
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,4)   total(G,1|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:909, None   



Context             (SEQ ID NO:4284):
GCAAAATACAGCTTCCAATTATACAGCTGCGTAAAGTGTGGGCTGAAGCAGTGCACTATGTGTCTGGACTAAAAGAAGACTATAGCAGGCTCTTTCAGGG
R
CAAAGGGCAGCAATGTTAAGTCTTCTTAGATATAATGCTAACTTAACAAAAATGAAGAACACTTTGATCTCAGCATCACAACAACTGAAAGCTAAATTGG
Celera SNP ID:            hCV25592828
SNP Position Transcript:  1416
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,40)   total(A,73|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:909, 447, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:4285):
CATGTGAAGAGATGTCAGGAGAAGTTCGGTTTAGTAGCCATTTACCTCAACCAAATAGCCTTTGTAGTTTAGTAGTAGAACCCATGGAAAACTGGCTACA
S
TTGATGTTGAATTGGGACCCTCAGCAGAGAGGAGGACCTGTTGACCTTACTTTGAAGCAGCCAAGATGTTTTGTATTAATGGATCACATTTTGAATTTGA
Celera SNP ID:            hCV25592829
SNP Position Transcript:  906
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:909, 277, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:4286):
TCCTGGCATCATAAGGAGTTGGTGTAATCATTTTAAATTCCACTGAAAATTTAACAGTATCCCCTTCTCATCGAAGGGATTGTGTATCTGTGCTTCTAAT
M
TTAGTTGGCTTTCATAAATCATGTTGTTGTGTGTATATGTATTTAAGATGTACATTTAATAATATCAAAGAGAAGATGCCTGTTAATTTATAATGTATTT
Celera SNP ID:            hCV27833379
SNP Position Transcript:  2941
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|C,1)   total(A,69|C,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:909, None



Gene Number:                 85
Celera Gene:                 hCG19460 - 104000117855400
Celera Transcript:           hCT10531 - 104000117855401
Public Transcript Accession: NM_152365
Celera Protein:              hCP37268 - 197000064953912
Public Protein Accession:    NP_689578
Gene Symbol:                 FLJ34633
Protein Name:                hypothetical protein FLJ34633
Celera Genomic Axis:         GA_x5YUV32W802(56200927..56211778)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:213):
CCTGCGCCCCAGGTGAGCGGCGAGGGGGCGGGGGAGGGGCTGAGCCGGAGGCGGCTCACCTGGCGGGACAGGTGCCTGGCTGCTACAAACCATGCAATGA
GCCATGCCCCGCCCTGGACACCCCCGCCCAGCATCTGGGCCTCCACGCTTGGGACCGTGGGAGCGGCCAACAGAGCTATGTCTGGAGACATATGATAAAC
CACCTCAGCCCCCACCAAGCCGCCGCACCCGTAGACCAGACCCCAAGGACCCTGGCCACCATGGGCCAGAGAGCATTACCTTCATCTCTGGCTCTGCTGA
GCCGGCCCTTGAGTCCCCCACCTGCTGCCTGCTCTGGCGACCCTGGGTGTGGGAGTGGTGCCGGGCTGCCTTCTGCTTCCGCCGCTGCCGGGATTGCCTC
CRGCGCTGTGGAGCCTGTGTGYGGGGATGCAGCCCCTGCCTGTCTACTGAGGAYTCCACTGAGGGGACTGCTGAAGCCAACTGGGCCAAGGAGCACAATG
GAGTGCCCCCCAGCCCTGATCGTGCACCCCCCAGCCGGCGGGATGGCCAGCGGCTCAAGTCAACCATGGGCAGCAGCTTCAGCTACCCCGATGTTAAGCT
CAAAGGCATCCCTGTGTATCCCTACCCGAGGGCCACCTCCCCAGCCCCTGATGCGGACTCCTGCTGCARGGAGCCACTGGCCGATCCCCCACCCATGCGA
CACAGCCTGCCCAGCACCTTTGCCAGTAGTCCTCGTGGCTCCGAGGAGTACTATTCTTTCCATGAGTCGGACCTGGACCTGCCGGAGATGGGCAGTGGCT
CCATGTCGAGCCGAGAAATTGATGTGCTCATCTTCAAGAAGCTGACAGAGCTGTTCAGCGTACACCAGATCGATGAGCTGGCCAAGTGCACATCAGACAC
TGTGTTCCTGGAGAAGACCAGTAAGATCTCGGACCTTATCAGCAGCATCACGCAGGACTACCACCTGGATGAGCAGGATGCTGAGGGCCGCCTGGTACGC
GGCATCATTCGCATTAGTACCCGAAAGAGCCGTGCTCGCCCACAGACCTCGGAGGGTCGTTCAACTCGGGCTGCTGCCCCAACCGCTGCTGCCCCTGACA
GTGGCCATGAGACCATGGTGGGCTCAGGTCTCAGCCAGGATGAGCTGACAGTGCAGATCTCCCAGGAGACGACTGCAGATGCCATCGCCCGGAAGCTGAG
GCCTTATGGAGCTCCAGGGTACCCAGCAAGCCATGACTCATCCTTCCAGGGCACCGACACAGACTCGTCGGGGGCACCCTTGCTCCAGGTGTACTGCTAA
CCCCTGCCAGGCCCAGCTGCCACACCCTTTCTGGGAGAAGCATGGCCTACAGAATGAAGAGGGGGACCAGGAACCCCTGTGGGAGAGGCTTAGACCTGAA
GCAGTGCCCACTCTGGCTCCTCCTGCCTTGGCTGACTGGGTTCCTGGACCATGTGCATTTCACTGGGCCATGGGATCTACATCTCCTTGCATCCCCAGCT
GGTCTGATCCCTGCCAGGGCCCCTTCCTTCCTGCTCATGGTCTTCAGGTGGCCTGATCATGGAAAGTAAGGAGTTAGGCATTACCTTCTGGGAGTGAACC
CTGACTCCATCCCCCTATTGCCACCCTAACCAATCATGCAAACTTCTCCCTCCCTGGGGTAATTCAACAGTTAAAAGAAGCTTATCTTAAATGTATTGTA
TTGGGGGGTGGGCAGGGCCCACTCTATGTTATGTTAAGGAGTTGGTTCTGGTTCTTGGCTGATGTTCTGTATCTTAACATGACCACAGTTTGTAAGTAC

Protein Sequence    (SEQ ID NO:910):
MINHLSPHQAAAPVDQTPRTLATMGQRALPSSLALLSRPLSPPPAACSGDPGCGSGAGLPSASAAAGIASSAVEPVCGDAAPACLLRTPLRGLLKPTGPR
STMECPPALIVHPPAGGMASGSSQPWAAASATPMLSSKASLCIPTRGPPPQPLMRTPAARSHWPIPHPCDTACPAPLPVVLVAPRSTILSMSRTWTCRRW
AVAPCRAEKLMCSSSRS


SNP Information

Context             (SEQ ID NO:4287):
GGCAGCAGCTTCAGCTACCCCGATGTTAAGCTCAAAGGCATCCCTGTGTATCCCTACCCGAGGGCCACCTCCCCAGCCCCTGATGCGGACTCCTGCTGCA
R
GGAGCCACTGGCCGATCCCCCACCCATGCGACACAGCCTGCCCAGCACCTTTGCCAGTAGTCCTCGTGGCTCCGAGGAGTACTATTCTTTCCATGAGTCG
Celera SNP ID:            hCV25965960
SNP Position Transcript:  669
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,40)   total(A,76|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:910, 160, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:4288):
CTGCTGCCTGCTCTGGCGACCCTGGGTGTGGGAGTGGTGCCGGGCTGCCTTCTGCTTCCGCCGCTGCCGGGATTGCCTCCAGCGCTGTGGAGCCTGTGTG
Y
GGGGATGCAGCCCCTGCCTGTCTACTGAGGACTCCACTGAGGGGACTGCTGAAGCCAACTGGGCCAAGGAGCACAATGGAGTGCCCCCCAGCCCTGATCG
Celera SNP ID:            hCV15971990
SNP Position Transcript:  422
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,24|T,6)   total(C,56|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:910, 77, (C,TGC)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(C,15|T,5)   total(C,21|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:910, 77, (C,TGC)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:910, 77, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:4289):
CCGGCCCTTGAGTCCCCCACCTGCTGCCTGCTCTGGCGACCCTGGGTGTGGGAGTGGTGCCGGGCTGCCTTCTGCTTCCGCCGCTGCCGGGATTGCCTCC
R
GCGCTGTGGAGCCTGTGTGCGGGGATGCAGCCCCTGCCTGTCTACTGAGGACTCCACTGAGGGGACTGCTGAAGCCAACTGGGCCAAGGAGCACAATGGA
Celera SNP ID:            hCV1745622
SNP Position Transcript:  402
SNP Source:               Applera
Population(Allele,Count): african american(A,24)   caucasian(A,31|G,1)   total(A,55|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:910, 71, (S,AGC)   (G,GGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,8)   total(G,2|A,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:910, 71, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:4290):
AGTGGTGCCGGGCTGCCTTCTGCTTCCGCCGCTGCCGGGATTGCCTCCAGCGCTGTGGAGCCTGTGTGCGGGGATGCAGCCCCTGCCTGTCTACTGAGGA
Y
TCCACTGAGGGGACTGCTGAAGCCAACTGGGCCAAGGAGCACAATGGAGTGCCCCCCAGCCCTGATCGTGCACCCCCCAGCCGGCGGGATGGCCAGCGGC
Celera SNP ID:            hCV15971991
SNP Position Transcript:  454
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,23|T,13)   total(C,53|T,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:910, 88, (T,ACT)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:910, 88, (T,ACT)   (I,ATT)      



Gene Number:                 86
Celera Gene:                 hCG19516 - 145000147807632
Celera Transcript:           hCT1961893 - 145000147807641
Public Transcript Accession: NM_004102
Celera Protein:              hCP1774074 - 197000064953671
Public Protein Accession:    NP_004093
Gene Symbol:                 FABP3
Protein Name:                fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor);FABP11;MDGI;O-FABP
Celera Genomic Axis:         GA_x5YUV32W802(51782352..51786542)
Chromosome:                  Chr1
OMIM number:                 134651
OMIM Information:            FATTY ACID-BINDING PROTEIN 3;FABP3


Transcript Sequence (SEQ ID NO:214):
CCTGGGGCTTCCTATTTCGGGAGCCGGGGGCGTGGGCCACGTCTCCTCATGTGATGCGAGGGCTATTTAAAGCGGCAGCCCGGGCAGGGAGCCGCCGTCG
GAGCCCTTGCACGCCTGCTCTCTTGTAGCTTCTCTCAGCCTAGCCCAGCATCRCTATGGTGGACGCTTTCCTGGGCACCTGGAAGCTAGTGGACAGCAAG
AATTTCGATGACTACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGTGGCCAGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACA
TTCTCACCCTAARAACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAA
GGTAAGTCAGGGAAACAGGGGTGGGGAATGGAGAGTGCTGAGACTCTAAAAGAGAATAGGCTGGTAGTCTTGGCTCCCTRGTATTGCACCCTGAGGGGCA
GACTATCATGGGGAATTTAAATGAAACAAGATTCATAAAGCCTGTGTAGTGCTGGAATGCCACTGATGCTAAATACATGTCAGTTCTGTCCTCTTGTTTT
CTTCCCTCCCTTCTTGGGATTCATCTATTGTCTGCCTCGGAATGGGCAGCACAGAGCCAGGATGTTCTTCTGACCTCAGTATCTACTCCAGCTCCAGCTG
GGTGACCCTGTGCAAGGTATGCAGTAGCTCTAGGTTTCTTTCCCCTTCCATAGATGGCAGAGTTATGTGGCCATGGCTGTGACCTGAAGTGCTTTAGGAA
TGAT

Protein Sequence    (SEQ ID NO:911):
MVDAFLGTWKLVDSKNFDDYMKSLGVGFATRQVASMTKPTTIIEKNGDILTLKTHSTFKNTEISFKLGVEFDETTADDRKVKVSQGNRGGEWRVLRL


SNP Information

Context             (SEQ ID NO:4291):
AGCAGATGACAGGAAGGTCAAGGTAAGTCAGGGAAACAGGGGTGGGGAATGGAGAGTGCTGAGACTCTAAAAGAGAATAGGCTGGTAGTCTTGGCTCCCT
R
GTATTGCACCCTGAGGGGCAGACTATCATGGGGAATTTAAATGAAACAAGATTCATAAAGCCTGTGTAGTGCTGGAATGCCACTGATGCTAAATACATGT
Celera SNP ID:            hCV1496697
SNP Position Transcript:  480
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,3|G,37)   total(A,5|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:911, None



Context             (SEQ ID NO:4292):
TACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGTGGCCAGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACATTCTCACCCTAA
R
AACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAAGGTAAGTCAGGGA
Celera SNP ID:            hCV1496698
SNP Position Transcript:  313
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:911, 53, (K,AAA)   (R,AGA)   



Context             (SEQ ID NO:4293):
GATGCGAGGGCTATTTAAAGCGGCAGCCCGGGCAGGGAGCCGCCGTCGGAGCCCTTGCACGCCTGCTCTCTTGTAGCTTCTCTCAGCCTAGCCCAGCATC
R
CTATGGTGGACGCTTTCCTGGGCACCTGGAAGCTAGTGGACAGCAAGAATTTCGATGACTACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGT
Celera SNP ID:            hCV25593021
SNP Position Transcript:  153
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,40)   total(A,73|G,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:911, None



Gene Number:                 86
Celera Gene:                 hCG19516 - 145000147807632
Celera Transcript:           hCT10588 - 145000147807633
Public Transcript Accession: NM_004102
Celera Protein:              hCP37752 - 197000064953670
Public Protein Accession:    NP_004093
Gene Symbol:                 FABP3
Protein Name:                fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor);FABP11;MDGI;O-FABP
Celera Genomic Axis:         GA_x5YUV32W802(51782352..51790535)
Chromosome:                  Chr1
OMIM number:                 134651
OMIM Information:            FATTY ACID-BINDING PROTEIN 3;FABP3


Transcript Sequence (SEQ ID NO:215):
CCTGGGGCTTCCTATTTCGGGAGCCGGGGGCGTGGGCCACGTCTCCTCATGTGATGCGAGGGCTATTTAAAGCGGCAGCCCGGGCAGGGAGCCGCCGTCG
GAGCCCTTGCACGCCTGCTCTCTTGTAGCTTCTCTCAGCCTAGCCCAGCATCRCTATGGTGGACGCTTTCCTGGGCACCTGGAAGCTAGTGGACAGCAAG
AATTTCGATGACTACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGTGGCCAGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACA
TTCTCACCCTAARAACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAA
GTCCATTGTGACACTGGATGGAGGGAAACTTGTTCACCTGCAGAAATGGGACGGGCAAGAGACCACACTTGTGCGGGAGCTAATTGATGGAAAACTCATC
CTGACACTCACCCACGGCACTGCAGTTTGCACTCGCACTTATGAGAAAGAGGCATGACCTGACTGCACTGTTGCTGACTACTACTCTGCCAATCGGCTAC
CCCTCGACTCAGCACCACATTGCCTCATTTCTTCCTCTGCATTTTGTACAAATCCACGAATTCTTCTGGGGTCAGGTGCCACTGACCGGGATCCAGTTCC
AGTTCCCATGGTGTATGTGGTTTTTTTTTTTTTTTTTTTAACTGCACTCATAGGGTGCTCTGAGGTCAATAAAGCAGAGCCAAGGCCACCCAGTTGCCTT
TTTGCCTTTGGTAACATAACTCTGGGAGTCTTGGTTTATCCTGTGTGTCAGAGAGTGGGCAGAAATAACGGCCTGAAGGTTACTGAGGAAGAAGCACTGG
ATGGGAGACTGAAATGGACAGTCTCGGAGCCTGTTAATCAGCTGATCACCTTACACATTTAATAATAAAAGAGCTGTACCTACACGTTGCCTTTACACTG
CCCCCCCTCCATGGTCAAATGACCTAGTTCAGTCAGTGATGGGGCTTCCCCAGGTTTGGCTATTGAACTGTCACTTCAGGCCCATCCTACACTGAAAGCT
CTTGGGTCTGGCTGTTCTCTGTGAAATGCTGTAGTCTCTCCCTTTCCAGAATTCAGGTTCAGGGCACAGAACCCAGGCTTGTACCATGGTGGTGGGAGAA
AATGACCACTGGCCAAGAGGACTGCTGACCTGTGCACCAGGCTAGTACTTATGACTACAAATTCTTACTGCTTCTCTAATCAACTCTGAGGGAAGAGGGC
ATCTGATCATTACAAAAGGGAGGGCTTATAAGTGATCTCCCAAGAAGGCAGTGATCTGCTAGTGCCTTTGGCTCTGTACCTCTGCTGGGCATCTCTCCAA
GGTCTAAGGTAACATATTAAATGTTTTTGTCAGCTAATGCAGGCTCAGTGACTTTAAGTCTGTA

Protein Sequence    (SEQ ID NO:912):
MVDAFLGTWKLVDSKNFDDYMKSLGVGFATRQVASMTKPTTIIEKNGDILTLKTHSTFKNTEISFKLGVEFDETTADDRKVKSIVTLDGGKLVHLQKWDG
QETTLVRELIDGKLILTLTHGTAVCTRTYEKEA


SNP Information

Context             (SEQ ID NO:4294):
TACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGTGGCCAGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACATTCTCACCCTAA
R
AACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAAGTCCATTGTGACA
Celera SNP ID:            hCV1496698
SNP Position Transcript:  313
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:912, 53, (K,AAA)   (R,AGA)   



Context             (SEQ ID NO:4295):
GATGCGAGGGCTATTTAAAGCGGCAGCCCGGGCAGGGAGCCGCCGTCGGAGCCCTTGCACGCCTGCTCTCTTGTAGCTTCTCTCAGCCTAGCCCAGCATC
R
CTATGGTGGACGCTTTCCTGGGCACCTGGAAGCTAGTGGACAGCAAGAATTTCGATGACTACATGAAGTCACTCGGTGTGGGTTTTGCTACCAGGCAGGT
Celera SNP ID:            hCV25593021
SNP Position Transcript:  153
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,40)   total(A,73|G,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:912, None



Gene Number:                 87
Celera Gene:                 hCG19607 - 84000313611334
Celera Transcript:           hCT10679 - 84000313611335
Public Transcript Accession: NM_000506
Celera Protein:              hCP37454 - 197000069374379
Public Protein Accession:    NP_000497
Gene Symbol:                 F2
Protein Name:                coagulation factor II (thrombin);PT;THROMBIN
Celera Genomic Axis:         GA_x5YUV32VW1T(4109716..4130048)
Chromosome:                  Chr11
OMIM number:                 176930
OMIM Information:            COAGULATION FACTOR II;F2


Transcript Sequence (SEQ ID NO:216):
ATTAACCCAGAGGGGTCAGGACAGACAATTCCTCAGTGACCCAGGAGCTGACACACTATGGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCC
TGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCYGGCRAGCCAACACCTTCTT
GGAGRAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGAT
GTGTTCTGGGCCAAGTRCACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGA
ACTACCGAGGGCATGTGAACATCACCCGGTCAGGCATTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCC
TGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCYKACAGCAGCACCAYGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATRC
AGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCRAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCC
CTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCA
CCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGYGTGTGGTGCTATGTGGCCGGGAAGCCTGGC
GACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGYRTA
CCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGA
GGACAAAACCRAAAGAGAGCTCCTGGAATCCTACATCGACRGGCRCATTGTGGAGGGCTCGGATGCAGAGATCRGCATGTCACCTTGGCAGGTGAYGCTT
TTCYGGAAGAGTMCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCMGTGACCGCTGKGTCCTCACCGCCGCCCACTGCCTCCTGTACCCRCCCTGGGACA
AGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCRCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTA
CATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACYGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTG
TGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGMGACGTGGACAGCCAACG
TTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCRGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACAT
GTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACYGC
TGGTATCAAATGGGCATCGTCTCATGGGSTGAAGGCTGTGACCGGGATGGGAMATATGKCTTCTACACACRTGTGTTCCGCCTGAAGAAGTRGATACAGA
AGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTT
CCCAATAAAAGTGACTCTCAGCRAGCCTC

Protein Sequence    (SEQ ID NO:913):
MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKL
AACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSE
GSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETG
DGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRW
VLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGR
VTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKY
GFYTHVFRLKKWIQKVIDQFGE


SNP Information

Context             (SEQ ID NO:4296):
GCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTC
Y
GGCGAGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGA
Celera SNP ID:            hCV27530929
SNP Position Transcript:  181
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 42, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4297):
TTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACAC
R
TGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGA
Celera SNP ID:            hCV27859213
SNP Position Transcript:  1871
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 605, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:4298):
CATGTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAAC
Y
GCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACA
Celera SNP ID:            hCV27861960
SNP Position Transcript:  1798
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 581, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:4299):
CTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGAC
R
GGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCT
Celera SNP ID:            hCV27537180
SNP Position Transcript:  1141
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 362, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:4300):
TGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCC
K
ACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGC
Celera SNP ID:            hCV27528165
SNP Position Transcript:  538
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 161, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:4301):
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
M
GTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTC
Celera SNP ID:            hCV27528166
SNP Position Transcript:  1246
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 397, (S,AGT)   (R,CGT)      



Context             (SEQ ID NO:4302):
GGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGG
S
TGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGG
Celera SNP ID:            hCV27528436
SNP Position Transcript:  1829
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 591, (A,GCT)   (G,GGT)      



Context             (SEQ ID NO:4303):
CCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGG
Y
GTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATG
Celera SNP ID:            hCV11381381
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 271, (G,GGC)   (G,GGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;WIAF-CSNP-P(1(T,3|C,123)   total(C,123|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 271, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:4304):
TGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCA
Y
GGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGC
Celera SNP ID:            hCV11381382
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|T,3)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 165, (T,ACG)   (M,ATG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,6|C,107)      total(C,107|T,6) ;WIAF-CSNP-P(1(T,13|C,113)   total(C,113|T,13)no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 165, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4305):
TGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCC
R
GTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACA
Celera SNP ID:            hCV11381367
SNP Position Transcript:  1659
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,35)   total(A,1|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 534, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 534, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4306):
GCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTG
K
GTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGT
Celera SNP ID:            hCV27536836
SNP Position Transcript:  1257
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 400, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4307):
CAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGAC
Y
GGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCA
Celera SNP ID:            hCV27528205
SNP Position Transcript:  1438
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 461, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4308):
GGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGA
M
ATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGG
Celera SNP ID:            hCV27536135
SNP Position Transcript:  1853
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 599, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:4309):
AGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATG
K
CTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAA
Celera SNP ID:            hCV27528206
SNP Position Transcript:  1859
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 601, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:4310):
ACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCC
R
AAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCC
Celera SNP ID:            hCV27845480
SNP Position Transcript:  655
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,37)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 200, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4311):
GTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGC
R
AGCCTC
Celera SNP ID:            hCV8726802
SNP Position Transcript:  2023
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:913, None   



Context             (SEQ ID NO:4312):
GGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTTCTGGGCCAAGT
R
CACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTG
Celera SNP ID:            hCV27861954
SNP Position Transcript:  317
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 87, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4313):
GGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGC
R
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
Celera SNP ID:            hCV27530798
SNP Position Transcript:  1145
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 363, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4314):
CCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAAT
R
CAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTC
Celera SNP ID:            hCV27861955
SNP Position Transcript:  599
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 181, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4315):
ACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATC
R
GCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCA
Celera SNP ID:            hCV27861956
SNP Position Transcript:  1174
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 373, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:4316):
CTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGA
Y
GCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGG
Celera SNP ID:            hCV27861957
SNP Position Transcript:  1196
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 380, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4317):
CAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTC
Y
GGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAA
Celera SNP ID:            hCV27861958
SNP Position Transcript:  1204
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 383, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4318):
TTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCC
Y
GACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAG
Celera SNP ID:            hCV15746468
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 160, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:4319):
GACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCC
R
CACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCC
Celera SNP ID:            hCV27861959
SNP Position Transcript:  1349
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 431, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4320):
AGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCC
R
CCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGG
Celera SNP ID:            hCV11381372
SNP Position Transcript:  1290
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,36)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 411, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:913, 411, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4321):
AAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGT
M
CCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGA
Celera SNP ID:            hCV11381373
SNP Position Transcript:  1213
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 386, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:4322):
GGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGC
R
TACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTG
Celera SNP ID:            hCV27536590
SNP Position Transcript:  998
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 314, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:4323):
CCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCCGGC
R
AGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCC
Celera SNP ID:            hCV27540360
SNP Position Transcript:  185
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 43, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:4324):
GACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGG
M
GACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATC
Celera SNP ID:            hCV27536591
SNP Position Transcript:  1583
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 509, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:4325):
TGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCCGGCGAGCCAACACCTTCTTGGAG
R
AGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTT
Celera SNP ID:            hCV27532237
SNP Position Transcript:  205
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 50, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:4326):
TGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACC
R
AAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAG
Celera SNP ID:            hCV27535881
SNP Position Transcript:  1111
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 352, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:4327):
TGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGG
Y
GTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCT
Celera SNP ID:            hCV27531438
SNP Position Transcript:  997
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 314, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:4328):
AACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGT
R
GATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAA
Celera SNP ID:            hCV27859912
SNP Position Transcript:  1892
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:913, 612, (X,TAG)   (W,TGG)      



Gene Number:                 87
Celera Gene:                 hCG19607 - 84000313611334
Celera Transcript:           hCT1968894 - 84000313611353
Public Transcript Accession: NM_000506
Celera Protein:              hCP1782758 - 197000069374380
Public Protein Accession:    NP_000497
Gene Symbol:                 F2
Protein Name:                coagulation factor II (thrombin);PT;THROMBIN
Celera Genomic Axis:         GA_x5YUV32VW1T(4109716..4130007)
Chromosome:                  Chr11
OMIM number:                 176930
OMIM Information:            COAGULATION FACTOR II;F2


Transcript Sequence (SEQ ID NO:217):
CAGGAGCTGACACACTATGGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGCACGG
TCGCTGCTCCAGCGGGTCYGGCRAGCCAACACCTTCTTGGAGRAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGG
AGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTTCTGGGCCAAGTRCACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGC
ATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTGAACATCACCCGGTCAGGCATTGAGTGCCAGCTATGGAGGAGTCGC
TACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCYKACAGCAGCACCAYGGGACCCTGGT
GCTACACTACAGACCCCACCGTGAGGAGGCAGGAATRCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCRAAGGCTC
CAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTG
GCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATG
AGGAGGGYGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGG
GCTGGATGAGGACTCAGACAGGGCCATCGAAGGGYRTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGAC
TGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCRAAAGAGAGCTCCTGGAATCCTACATCGACRGGCRCATTGTGGAGGGCTCGG
ATGCAGAGATCRGCATGTCACCTTGGCAGGTGAYGCTTTTCYGGAAGAGTMCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCMGTGACCGCTGKGTCCT
CACCGCCGCCCACTGCCTCCTGTACCCRCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCRCACCAGGTACGAG
CGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACYGGGACATTGCCCTGATGAAGCTGA
AGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGAC
AGGCTGGGGCAACCTGAAGGMGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCRGTC
TGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTG
GGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACYGCTGGTATCAAATGGGCATCGTCTCATGGGSTGAAGGCTGTGACCGGGATGGGAMATATGKCTT
CTACACACRTGTGTTCCGCCTGAAGAAGTRGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCC
CGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCRAGCCTC

Protein Sequence    (SEQ ID NO:914):
MAHVRGLQLPGCLALAALCSLVHSQHARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLEGN
CAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLS
PPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDS
DRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHC
LLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNL
KETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKYGFYTHVF
RLKKWIQKVIDQFGE


SNP Information

Context             (SEQ ID NO:4329):
GGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGCACGGTCGCTGCTCCAGCGGGTC
Y
GGCGAGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGA
Celera SNP ID:            hCV27530929
SNP Position Transcript:  119
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 35, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4330):
TTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACAC
R
TGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGA
Celera SNP ID:            hCV27859213
SNP Position Transcript:  1809
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 598, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:4331):
CATGTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAAC
Y
GCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACA
Celera SNP ID:            hCV27861960
SNP Position Transcript:  1736
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 574, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:4332):
CTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGAC
R
GGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCT
Celera SNP ID:            hCV27537180
SNP Position Transcript:  1079
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 355, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:4333):
TGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCC
K
ACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGC
Celera SNP ID:            hCV27528165
SNP Position Transcript:  476
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 154, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:4334):
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
M
GTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTC
Celera SNP ID:            hCV27528166
SNP Position Transcript:  1184
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 390, (S,AGT)   (R,CGT)      



Context             (SEQ ID NO:4335):
GGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGG
S
TGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGG
Celera SNP ID:            hCV27528436
SNP Position Transcript:  1767
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 584, (A,GCT)   (G,GGT)      



Context             (SEQ ID NO:4336):
CCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGG
Y
GTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATG
Celera SNP ID:            hCV11381381
SNP Position Transcript:  808
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 264, (G,GGC)   (G,GGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;WIAF-CSNP-P(1(T,3|C,123)   total(C,123|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 264, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:4337):
TGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCA
Y
GGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGC
Celera SNP ID:            hCV11381382
SNP Position Transcript:  489
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|T,3)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 158, (T,ACG)   (M,ATG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,6|C,107)      total(C,107|T,6) ;WIAF-CSNP-P(1(T,13|C,113)   total(C,113|T,13)no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 158, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4338):
TGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCC
R
GTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACA
Celera SNP ID:            hCV11381367
SNP Position Transcript:  1597
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,35)   total(A,1|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 527, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 527, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4339):
GCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTG
K
GTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGT
Celera SNP ID:            hCV27536836
SNP Position Transcript:  1195
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 393, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4340):
CAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGAC
Y
GGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCA
Celera SNP ID:            hCV27528205
SNP Position Transcript:  1376
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 454, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4341):
GGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGA
M
ATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGG
Celera SNP ID:            hCV27536135
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 592, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:4342):
AGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATG
K
CTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAA
Celera SNP ID:            hCV27528206
SNP Position Transcript:  1797
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 594, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:4343):
ACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCC
R
AAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCC
Celera SNP ID:            hCV27845480
SNP Position Transcript:  593
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,37)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 193, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4344):
GTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGC
R
AGCCTC
Celera SNP ID:            hCV8726802
SNP Position Transcript:  1961
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:914, None   



Context             (SEQ ID NO:4345):
GGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTTCTGGGCCAAGT
R
CACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTG
Celera SNP ID:            hCV27861954
SNP Position Transcript:  255
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 80, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4346):
GGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGC
R
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
Celera SNP ID:            hCV27530798
SNP Position Transcript:  1083
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 356, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4347):
CCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAAT
R
CAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTC
Celera SNP ID:            hCV27861955
SNP Position Transcript:  537
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 174, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4348):
ACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATC
R
GCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCA
Celera SNP ID:            hCV27861956
SNP Position Transcript:  1112
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 366, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:4349):
CTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGA
Y
GCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGG
Celera SNP ID:            hCV27861957
SNP Position Transcript:  1134
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 373, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4350):
CAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTC
Y
GGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAA
Celera SNP ID:            hCV27861958
SNP Position Transcript:  1142
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 376, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4351):
TTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCC
Y
GACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAG
Celera SNP ID:            hCV15746468
SNP Position Transcript:  475
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 153, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:4352):
GACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCC
R
CACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCC
Celera SNP ID:            hCV27861959
SNP Position Transcript:  1287
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 424, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4353):
AGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCC
R
CCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGG
Celera SNP ID:            hCV11381372
SNP Position Transcript:  1228
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,36)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 404, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:914, 404, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4354):
AAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGT
M
CCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGA
Celera SNP ID:            hCV11381373
SNP Position Transcript:  1151
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 379, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:4355):
GGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGC
R
TACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTG
Celera SNP ID:            hCV27536590
SNP Position Transcript:  936
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 307, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:4356):
CACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGCACGGTCGCTGCTCCAGCGGGTCCGGC
R
AGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCC
Celera SNP ID:            hCV27540360
SNP Position Transcript:  123
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 36, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:4357):
GACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGG
M
GACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATC
Celera SNP ID:            hCV27536591
SNP Position Transcript:  1521
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 502, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:4358):
GCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGCACGGTCGCTGCTCCAGCGGGTCCGGCGAGCCAACACCTTCTTGGAG
R
AGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTT
Celera SNP ID:            hCV27532237
SNP Position Transcript:  143
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 43, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:4359):
TGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACC
R
AAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAG
Celera SNP ID:            hCV27535881
SNP Position Transcript:  1049
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 345, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:4360):
TGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGG
Y
GTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCT
Celera SNP ID:            hCV27531438
SNP Position Transcript:  935
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 307, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:4361):
AACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGT
R
GATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAA
Celera SNP ID:            hCV27859912
SNP Position Transcript:  1830
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:914, 605, (X,TAG)   (W,TGG)      



Gene Number:                 87
Celera Gene:                 hCG19607 - 84000313611334
Celera Transcript:           hCT1968895 - 84000313611371
Public Transcript Accession: NM_000506
Celera Protein:              hCP1782762 - 197000069374381
Public Protein Accession:    NP_000497
Gene Symbol:                 F2
Protein Name:                coagulation factor II (thrombin);PT;THROMBIN
Celera Genomic Axis:         GA_x5YUV32VW1T(4109721..4130048)
Chromosome:                  Chr11
OMIM number:                 176930
OMIM Information:            COAGULATION FACTOR II;F2


Transcript Sequence (SEQ ID NO:218):
ATTAACCCAGAGGGGTCAGGACAGACAATTCCTCAGTGACCCAGGAGCTGACACACTATGGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCC
TGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCYGGCRAGCCAACACCTTCTT
GGAGRAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGAT
GTGTTCTGGGCCAAGTRCACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGA
ACTACCGAGGGCATGTGAACATCACCCGGTCAGGCATTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCC
TGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCYKACAGCAGCACCAYGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATRC
AGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCRAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCC
CTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCA
CCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGYGTGTGGTGCTATGTGGCCGGGAAGCCTGGC
GACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGYRTA
CCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGA
GGACAAAACCRAAAGAGAGCTCCTGGAATCCTACATCGACRGGCRCATTGTGGAGGGCTCGGATGCAGAGATCRGCATGTCACCTTGGCAGGTGAYGCTT
TTCYGGAAGAGTMCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCMGTGACCGCTGKGTCCTCACCGCCGCCCACTGCCTCCTGTACCCRCCCTGGGACA
AGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCRCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTA
CATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACYGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTG
TGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGMGACGTGGACAGCCAACG
TTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCRGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACAT
GTTCTGTGCTGGCAAGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAA
CYGCTGGTATCAAATGGGCATCGTCTCATGGGSTGAAGGCTGTGACCGGGATGGGAMATATGKCTTCTACACACRTGTGTTCCGCCTGAAGAAGTRGATA
CAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTAT
GGTTCCCAATAAAAGTGACTCTCAGCRA

Protein Sequence    (SEQ ID NO:915):
MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKL
AACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSE
GSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETG
DGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRW
VLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGR
VTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGKLQA


SNP Information

Context             (SEQ ID NO:4362):
GCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTC
Y
GGCGAGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGA
Celera SNP ID:            hCV27530929
SNP Position Transcript:  181
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 42, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4363):
TTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACAC
R
TGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGA
Celera SNP ID:            hCV27859213
SNP Position Transcript:  1875
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4364):
TTCTGTGCTGGCAAGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAAC
Y
GCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACA
Celera SNP ID:            hCV27861960
SNP Position Transcript:  1802
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4365):
CTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGAC
R
GGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCT
Celera SNP ID:            hCV27537180
SNP Position Transcript:  1141
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 362, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:4366):
TGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCC
K
ACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGC
Celera SNP ID:            hCV27528165
SNP Position Transcript:  538
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 161, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:4367):
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
M
GTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTC
Celera SNP ID:            hCV27528166
SNP Position Transcript:  1246
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 397, (S,AGT)   (R,CGT)      



Context             (SEQ ID NO:4368):
GGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGG
S
TGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGG
Celera SNP ID:            hCV27528436
SNP Position Transcript:  1833
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4369):
CCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGG
Y
GTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATG
Celera SNP ID:            hCV11381381
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 271, (G,GGC)   (G,GGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;WIAF-CSNP-P(1(T,3|C,123)   total(C,123|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 271, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:4370):
TGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCA
Y
GGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGC
Celera SNP ID:            hCV11381382
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|T,3)   total(C,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 165, (T,ACG)   (M,ATG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,6|C,107)      total(C,107|T,6) ;WIAF-CSNP-P(1(T,13|C,113)   total(C,113|T,13)no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 165, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4371):
TGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCC
R
GTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGT
Celera SNP ID:            hCV11381367
SNP Position Transcript:  1659
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,35)   total(A,1|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 534, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 534, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4372):
GCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTG
K
GTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGT
Celera SNP ID:            hCV27536836
SNP Position Transcript:  1257
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 400, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4373):
CAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGAC
Y
GGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCA
Celera SNP ID:            hCV27528205
SNP Position Transcript:  1438
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 461, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4374):
GGTGACAGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGA
M
ATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGG
Celera SNP ID:            hCV27536135
SNP Position Transcript:  1857
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4375):
ACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCC
R
AAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCC
Celera SNP ID:            hCV27845480
SNP Position Transcript:  655
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,37)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 200, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4376):
AGTGGGGGACCCTTTGTCATGAAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATG
K
CTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAA
Celera SNP ID:            hCV27528206
SNP Position Transcript:  1863
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4377):
GTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGC
R
A
Celera SNP ID:            hCV8726802
SNP Position Transcript:  2027
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Context             (SEQ ID NO:4378):
GGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTTCTGGGCCAAGT
R
CACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAAGGTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTG
Celera SNP ID:            hCV27861954
SNP Position Transcript:  317
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 87, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4379):
GGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGC
R
CATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATC
Celera SNP ID:            hCV27530798
SNP Position Transcript:  1145
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 363, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4380):
CCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAAT
R
CAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTC
Celera SNP ID:            hCV27861955
SNP Position Transcript:  599
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 181, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4381):
ACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATC
R
GCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCA
Celera SNP ID:            hCV27861956
SNP Position Transcript:  1174
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 373, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:4382):
CTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGA
Y
GCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGG
Celera SNP ID:            hCV27861957
SNP Position Transcript:  1196
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 380, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:4383):
CAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTC
Y
GGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAA
Celera SNP ID:            hCV27861958
SNP Position Transcript:  1204
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 383, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:4384):
TTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCTGAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCC
Y
GACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAG
Celera SNP ID:            hCV15746468
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 160, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:4385):
GACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCC
R
CACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCC
Celera SNP ID:            hCV27861959
SNP Position Transcript:  1349
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 431, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:4386):
AGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCC
R
CCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGG
Celera SNP ID:            hCV11381372
SNP Position Transcript:  1290
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,36)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 411, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:915, 411, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4387):
AAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGT
M
CCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGA
Celera SNP ID:            hCV11381373
SNP Position Transcript:  1213
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 386, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:4388):
GGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGC
R
TACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTG
Celera SNP ID:            hCV27536590
SNP Position Transcript:  998
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 314, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:4389):
CCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCCGGC
R
AGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCC
Celera SNP ID:            hCV27540360
SNP Position Transcript:  185
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 43, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:4390):
GACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGG
M
GACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATC
Celera SNP ID:            hCV27536591
SNP Position Transcript:  1583
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 509, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:4391):
TGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGGGTCCGGCGAGCCAACACCTTCTTGGAG
R
AGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTT
Celera SNP ID:            hCV27532237
SNP Position Transcript:  205
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 50, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:4392):
TGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACC
R
AAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAG
Celera SNP ID:            hCV27535881
SNP Position Transcript:  1111
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 352, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:4393):
TGGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGG
Y
GTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCT
Celera SNP ID:            hCV27531438
SNP Position Transcript:  997
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:915, 314, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:4394):
AACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGT
R
GATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAA
Celera SNP ID:            hCV27859912
SNP Position Transcript:  1896
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:915, None   



Gene Number:                 88
Celera Gene:                 hCG1980720 - 206000044665913
Celera Transcript:           hCT2253176 - 206000044665915
Public Transcript Accession: NM_018937
Celera Protein:              hCP1894678 - 206000044665912
Public Protein Accession:    NP_061760
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VUFE(34813280..34815251)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:219):
CTCGTAGTCCAGCGACCTGAGGGCRAACAGGTGGCCGTTGTCCGYGTTGATGGAGACCAGGGAAGAGAGGGGCAGCCACAGAATAGCGTCTTGACTCGGA
CCCAGCCAGAGACCCTCCCAGAAAAACAAAGAGAAGCAASACTTGCCTTTGTCTAAGAAATCGCTCTCCTCCCGCCTCCATTGCACTTTCCGTCACGCTC
TTCCAGGGAATGTCGCCAAGCTGAACCTCAGACAGMGCTGGGAAACAGTCTTTTGCCCCACAACCTTTGTAGACGGCCTAGTGAATAAGCCTTTCCAGAG
GCTCAGASTTGCTGGSTCAAAAATCTGCCTGGGCTCTCAACCGCTGGTTTACCACACTGGATCCGTGCGTCACCGAGCATGCACAATGCCTGTGGTTTAA
TTCGCCTTCTTAGTCAACAGCGCCACCATGCGTTCGCTTGCAGTTACAAAATCTTGGAGAAGGTGTTTTTATTTTGCTTTATCGATTATTCTTATCAACC
CTAGTTGACGCTACTGGAGGAGTTTCTCATGTTATATGAATTAAATAAATGCAATCTAGGGAAATAAAATGCACTTTTATCTACGA

Protein Sequence    (SEQ ID NO:916):
LVVQRPEGKQVAVVRVDGDQGREGQPQNSVLTRTQPETLPEKQREARLAFV


SNP Information

Context             (SEQ ID NO:4395):
CTCGTAGTCCAGCGACCTGAGGGCAAACAGGTGGCCGTTGTCCG
Y
GTTGATGGAGACCAGGGAAGAGAGGGGCAGCCACAGAATAGCGTCTTGACTCGGACCCAGCCAGAGACCCTCCCAGAAAAACAAAGAGAAGCAAGACTTG
Celera SNP ID:            hCV25940562
SNP Position Transcript:  45
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:916, 15, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:4396):
GTCCGCGTTGATGGAGACCAGGGAAGAGAGGGGCAGCCACAGAATAGCGTCTTGACTCGGACCCAGCCAGAGACCCTCCCAGAAAAACAAAGAGAAGCAA
S
ACTTGCCTTTGTCTAAGAAATCGCTCTCCTCCCGCCTCCATTGCACTTTCCGTCACGCTCTTCCAGGGAATGTCGCCAAGCTGAACCTCAGACAGAGCTG
Celera SNP ID:            hCV25936769
SNP Position Transcript:  140
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:916, 47, (T,ACA)   (R,AGA)   



Context             (SEQ ID NO:4397):
TTTACCACACTGGATCCGTGCGTCACCGAGCATGCACAATGCCTGTGGTTTAATTCGCCTTCTTAGTCAACAGCGCCACCATGCGTTCGCTTGCAGTTAC
A
AAATCTTGGAGAAGGTGTTTTTATTTTGCTTTATCGATTATTCTTATCAACCCTAGTTGACGCTACTGGAGGAGTTTCTCATGTTATATGAATTAAATAA
Celera SNP ID:            hCV26312422
SNP Position Transcript:  448
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|A,4)   total(A,4|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None   



Context             (SEQ ID NO:4398):
CTCGTAGTCCAGCGACCTGAGGGC
R
AACAGGTGGCCGTTGTCCGCGTTGATGGAGACCAGGGAAGAGAGGGGCAGCCACAGAATAGCGTCTTGACTCGGACCCAGCCAGAGACCCTCCCAGAAAA
Celera SNP ID:            hCV25940579
SNP Position Transcript:  25
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(A,7|G,25)   total(A,8|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:916, 9, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4399):
GAATGTCGCCAAGCTGAACCTCAGACAGAGCTGGGAAACAGTCTTTTGCCCCACAACCTTTGTAGACGGCCTAGTGAATAAGCCTTTCCAGAGGCTCAGA
S
TTGCTGGCTCAAAAATCTGCCTGGGCTCTCAACCGCTGGTTTACCACACTGGATCCGTGCGTCACCGAGCATGCACAATGCCTGTGGTTTAATTCGCCTT
Celera SNP ID:            hCV8939779
SNP Position Transcript:  308
SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,2)   caucasian(C,23|G,5)   total(C,47|G,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None   



Context             (SEQ ID NO:4400):
CCAAGCTGAACCTCAGACAGAGCTGGGAAACAGTCTTTTGCCCCACAACCTTTGTAGACGGCCTAGTGAATAAGCCTTTCCAGAGGCTCAGACTTGCTGG
S
TCAAAAATCTGCCTGGGCTCTCAACCGCTGGTTTACCACACTGGATCCGTGCGTCACCGAGCATGCACAATGCCTGTGGTTTAATTCGCCTTCTTAGTCA
Celera SNP ID:            hCV25937542
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,1)   caucasian(C,28)   total(C,53|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None



Context             (SEQ ID NO:4401):
GCAAGACTTGCCTTTGTCTAAGAAATCGCTCTCCTCCCGCCTCCATTGCACTTTCCGTCACGCTCTTCCAGGGAATGTCGCCAAGCTGAACCTCAGACAG
M
GCTGGGAAACAGTCTTTTGCCCCACAACCTTTGTAGACGGCCTAGTGAATAAGCCTTTCCAGAGGCTCAGACTTGCTGGCTCAAAAATCTGCCTGGGCTC
Celera SNP ID:            hCV8939774
SNP Position Transcript:  236
SNP Source:               Applera
Population(Allele,Count): african american(A,36|C,2)   caucasian(A,34|C,6)   total(A,70|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:916, None   



Gene Number:                 89
Celera Gene:                 hCG1981326 - 67000128986396
Celera Transcript:           hCT2254137 - 67000128986425
Public Transcript Accession: NM_020317
Celera Protein:              hCP1855313 - 197000069368447
Public Protein Accession:    NP_064713
Gene Symbol:                 DJ465N24.2.1
Protein Name:                hypothetical protein dJ465N24.2.1
Celera Genomic Axis:         GA_x5YUV32W3P1(8369747..8374968)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:220):
CGCGTCTGCTAACGTAGTCCCTCAGTGCGCATCCGGACGTAGGAGGTGGAGGTTGTGGAATTCGCCGTTCGAAAGCAGGGACTAAAAGCCCCACTTCGTC
TTACGTTCCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGG
GCTCGCCKCAGGAGAAGGATTCGCCCTCKACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCG
GTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTAC
TCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGT
ACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCG
CACAGTGYACCCGGAGGAGCACAGCAGATGGAGGGACAGMTCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAG
CTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAA
GCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAAGTAAGTATTCTAGGTTTGTCGGAACAAAACTTTCAGAAAGCCAACTGTCAAATCTGATT
AGCCACTTATATCTTAGACTATACTTTTTGGGAAGTCTAGAGATGTATATAATGTGCTAAATTCAAAGTAGCAAATCTGAAGATAGGCAATGTCAAACCC
ATGAAAATGGGAGATTAATGAGCTTTATTTGGCCGTGCATGRTGCCTCATGCCTGTAATGAGGCAGATGGCTTGAGTCCAGGAGTTCAAGACTAGCCTGG
GCAATGTGGCAAAACCGCGTGTTTACAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGGCAGGAG
GATCTTTGAGCCTAGGATGCTAAGGTTGCAGTGAGCCAAGATGGCACCATTGCACTCTAGCCTGGGCAGCAGAGCGAGACCCTGTCTCAAAAAATACATT
TATTTTTTTCATTTTCAGTTAACAGTGTACTCTTATAACACCGTTATTAGCTGGTACTTTGGTGATTTCTATTACTAGTTTTTCTAAGCTATTTACAGAG
TGTTTGTAGCTTTCATTTGCAGCATTATGTTCCCACAAATTCTGTACTCAGCATATACAGTATAGTTTATCTGCTCTATTTCTGTCTTATAGAAATCATG
AATGTGGTCTGCAGACATTGATGAAGAAAATCTGTTGGTAATTGATACATGGGCTAAAGCATCAGAGGTTTAATTTGAAGTTTATGTTCACACACTGAAA
ACTTAGTTTTTTTGTTGGTAGATCCATGTGCATGCTAGAATTTGGGACAGGYACTATTTGCATAAAGTATTAAAGTCAATTTTTAAACTAAGCAAAGGTA
CACGTTGTAACGGTGGGGCATCTGTGAAAAAGATGTCCCTTTCATAATATATGCAATATATTCCAGATGTTTTGAGAGATTACAGAAGAGGAGGCCTGCT
TCACTTGCAGATAAGTTTATTATAATTCTCCAGAAATGTGCAGGATGTGCATTAGCAAATTGCACTGTACTTTTCACTCCAGCCTGGGTGACAGAGCAAG
ACTCCCGTCTCGGGGGCTTAAAAAAAAAAAAATGCTGTATCTAAATGAATCTGTGTAATTGGGCCCAGATGTGGGTTTGCTCAGTATTAGTAGACAAGGT
CTTTGTTCAGACGATTAGGTGCCTAACTGGCAAATGCCTTAGTTTCTTAAAACGTATTTTCTGATGTGGCTTTACATTTCAAAAGTGAACTTGATTCAAC
CTGAGAAAACTGATTAAAAAATTAGTTTAAATTTGCCAGCAGGGAAGTAAAATAATTATGGGAAGAGTGTCTTAAGCCTAATATTAAATCAGTTTTGTTA
AGGGGAAAACTCAATAGTTCTGTTACTTAGGCTGTTAGATCCAAGTTGATTTTTGTGTCTACAGCTAAATTTTGTTTACAATTAGGCTATTTTTTAATAT
AGGATTTAGAAACCAAGGGTATGTGTTTTAAAATTACACTTTTTCTTAACCTGTCTAGCTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAAT
GRAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTT
CAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACT
TTATTGCAAGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTG
GTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTT

Protein Sequence    (SEQ ID NO:917):
MSNYVNDMWPGSPQEKDSPSTSRSGGSSRLSSRSRSRSFSRSSRSHSRVSSRFSSRSRRSKSRSRSRRRHQRKYRRYSRSYSRSRSRSRSRRYRERRYGF
TRRYYRSPSRYRSRSRSRSRSRGRSYCGRAYAIARGQRYYGFGRTVYPEEHSRWRDRSRTRSRSRTPFRLSEKDRMELLEIAKTNAAKALGTTNIDLPAS
LRTVPSAKETSRGIGVSSNGAKPEVSILGLSEQNFQKANCQI


SNP Information

Context             (SEQ ID NO:4402):
CCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTG
Y
ACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGA
Celera SNP ID:            hCV25940434
SNP Position Transcript:  608
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,2|T,36)   total(C,2|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:917, 147, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:4403):
GATGTATATAATGTGCTAAATTCAAAGTAGCAAATCTGAAGATAGGCAATGTCAAACCCATGAAAATGGGAGATTAATGAGCTTTATTTGGCCGTGCATG
R
TGCCTCATGCCTGTAATGAGGCAGATGGCTTGAGTCCAGGAGTTCAAGACTAGCCTGGGCAATGTGGCAAAACCGCGTGTTTACAAAAAATACAAAAATT
Celera SNP ID:            hCV11645287
SNP Position Transcript:  1042
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:917, None   



Context             (SEQ ID NO:4404):
GGCTAAAGCATCAGAGGTTTAATTTGAAGTTTATGTTCACACACTGAAAACTTAGTTTTTTTGTTGGTAGATCCATGTGCATGCTAGAATTTGGGACAGG
Y
ACTATTTGCATAAAGTATTAAAGTCAATTTTTAAACTAAGCAAAGGTACACGTTGTAACGGTGGGGCATCTGTGAAAAAGATGTCCCTTTCATAATATAT
Celera SNP ID:            hCV11645288
SNP Position Transcript:  1652
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:917, None   



Context             (SEQ ID NO:4405):
AGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTC
K
ACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTT
Celera SNP ID:            hCV25991219
SNP Position Transcript:  229
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,38)   total(G,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:917, 20, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4406):
GGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAG
M
TCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAG
Celera SNP ID:            hCV25940385
SNP Position Transcript:  640
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,36)   total(A,67|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:917, 157, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4407):
GGATTTAGAAACCAAGGGTATGTGTTTTAAAATTACACTTTTTCTTAACCTGTCTAGCTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATG
R
AAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCA
Celera SNP ID:            hCV2509975
SNP Position Transcript:  2402
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:917, None   



Context             (SEQ ID NO:4408):
GGCATGGTGGTGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCTTTGAGCCTAGGATGCTAAGGTTGCAGTGAGCCAAGATGGCAC
C
ATTGCACTCTAGCCTGGGCAGCAGAGCGAGACCCTGTCTCAAAAAATACATTTATTTTTTTCATTTTCAGTTAACAGTGTACTCTTATAACACCGTTATT
Celera SNP ID:            hCV26762656
SNP Position Transcript:  1248
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|-,8)   total(C,1|-,8) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:917, None   



Context             (SEQ ID NO:4409):
CCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCC
K
CAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATT
Celera SNP ID:            hCV25991262
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,40)   total(G,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:917, 13, (P,CCG)   (P,CCT)   



Gene Number:                 89
Celera Gene:                 hCG1981326 - 67000128986396
Celera Transcript:           hCT2254136 - 67000128986406
Public Transcript Accession: NM_020317
Celera Protein:              hCP1855310 - 197000069368444
Public Protein Accession:    NP_064713
Gene Symbol:                 DJ465N24.2.1
Protein Name:                hypothetical protein dJ465N24.2.1
Celera Genomic Axis:         GA_x5YUV32W3P1(8369738..8374968)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:221):
CGCGTCTGCTAACGTAGTCCCTCAGTGCGCATCCGGACGTAGGAGGTGGAGGTTGTGGAATTCGCCGTTCGAAAGCAGGGACTAAAAGCCCCACTTCGTC
TTACGTTCCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGG
GCTCGCCKCAGGAGAAGGATTCGCCCTCKACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCG
GTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTAC
TCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGT
ACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCG
CACAGTGYACCCGGAGGAGCACAGCAGATGGAGGGACAGMTCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAG
CTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAA
GCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGRAAAACCTACCCAGCA
AAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATA
GATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGT
TTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATT
TTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTAT
GTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA

Protein Sequence    (SEQ ID NO:918):
MSNYVNDMWPGSPQEKDSPSTSRSGGSSRLSSRSRSRSFSRSSRSHSRVSSRFSSRSRRSKSRSRSRRRHQRKYRRYSRSYSRSRSRSRSRRYRERRYGF
TRRYYRSPSRYRSRSRSRSRSRGRSYCGRAYAIARGQRYYGFGRTVYPEEHSRWRDRSRTRSRSRTPFRLSEKDRMELLEIAKTNAAKALGTTNIDLPAS
LRTVPSAKETSRGIGVSSNGAKPELSEKVTEDGTRNPNEKPTQQRSIAFSSNNSVAKPIQKSAKAATEEASSRSPKIDQKKSPYGLWIPI


SNP Information

Context             (SEQ ID NO:4410):
AGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTC
K
ACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTT
Celera SNP ID:            hCV25991219
SNP Position Transcript:  229
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,38)   total(G,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:918, 20, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4411):
TCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATG
R
AAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCA
Celera SNP ID:            hCV2509975
SNP Position Transcript:  885
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:918, 239, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4412):
GGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAG
M
TCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAG
Celera SNP ID:            hCV25940385
SNP Position Transcript:  640
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,36)   total(A,67|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:918, 157, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4413):
CCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTG
Y
ACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGA
Celera SNP ID:            hCV25940434
SNP Position Transcript:  608
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,2|T,36)   total(C,2|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:918, 147, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:4414):
CCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCC
K
CAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATT
Celera SNP ID:            hCV25991262
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,40)   total(G,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:918, 13, (P,CCG)   (P,CCT)   



Gene Number:                 89
Celera Gene:                 hCG1981326 - 67000128986396
Celera Transcript:           hCT2254138 - 67000128986397
Public Transcript Accession: NM_020317
Celera Protein:              hCP1855309 - 197000069368443
Public Protein Accession:    NP_064713
Gene Symbol:                 DJ465N24.2.1
Protein Name:                hypothetical protein dJ465N24.2.1
Celera Genomic Axis:         GA_x5YUV32W3P1(8369738..8374985)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:222):
GCTTCTGGTACTTTTGACGCGTCTGCTAACGTAGTCCCTCAGTGCGCATCCGGACGTAGGAGGTGGAGGTTGTGGAATTCGCCGTTCGAAAGCAGGGACT
AAAAGCCCCACTTCGTCTTACGTTCCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGGAAGTCCTGAGTTG
AGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCKCAGGAGAAG
GATTCGCCCTCKACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCT
CGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCG
GAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGT
AGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGYACCCGGAGG
AGCACAGCAGATGGAGGGACAGMTCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGAAATAGCAAA
AACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTA
TCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGRAAAACCTACCCAGCAAAGAAGCATAGCTTTTA
GCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCC
ATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCAT
CCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAG
ATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTT
TAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA

Protein Sequence    (SEQ ID NO:919):
MSNYVNDMWPGSPQEKDSPSTSRSGGSSRLSSRSRSRSFSRSSRSHSRVSSRFSSRSRRSKSRSRSRRRHQRKYRRYSRSYSRSRSRSRSRRYRERRYGF
TRRYYRSPSRYRSRSRSRSRSRGRSYCGRAYAIARGQRYYGFGRTVYPEEHSRWRDRSRTRSRSRTPFRLSEKDRMELLEIAKTNAAKALGTTNIDLPAS
LRTVPSAKETSRGIGVSSNGAKPELSEKVTEDGTRNPNEKPTQQRSIAFSSNNSVAKPIQKSAKAATEEASSRSPKIDQKKSPYGLWIPI


SNP Information

Context             (SEQ ID NO:4415):
ATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTC
K
ACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTT
Celera SNP ID:            hCV25991219
SNP Position Transcript:  312
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,38)   total(G,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:919, 20, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4416):
TCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATG
R
AAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCA
Celera SNP ID:            hCV2509975
SNP Position Transcript:  968
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:919, 239, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4417):
GGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAG
M
TCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAG
Celera SNP ID:            hCV25940385
SNP Position Transcript:  723
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,36)   total(A,67|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:919, 157, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4418):
CCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTG
Y
ACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGA
Celera SNP ID:            hCV25940434
SNP Position Transcript:  691
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,2|T,36)   total(C,2|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:919, 147, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:4419):
TCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCC
K
CAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATT
Celera SNP ID:            hCV25991262
SNP Position Transcript:  291
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,40)   total(G,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:919, 13, (P,CCG)   (P,CCT)   



Gene Number:                 89
Celera Gene:                 hCG1981326 - 67000128986396
Celera Transcript:           hCT2254139 - 67000128986415
Public Transcript Accession: NM_020317
Celera Protein:              hCP1855311 - 197000069368445
Public Protein Accession:    NP_064713
Gene Symbol:                 DJ465N24.2.1
Protein Name:                hypothetical protein dJ465N24.2.1
Celera Genomic Axis:         GA_x5YUV32W3P1(8369747..8374968)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:223):
CGCGTCTGCTAACGTAGTCCCTCAGTGCGCATCCGGACGTAGGAGGTGGAGGTTGTGGAATTCGCCGTTCGAAAGCAGGGACTAAAAGCCCCACTTCGTC
TTACGTTCCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGG
GCTCGCCKCAGGAGAAGGATTCGCCCTCKACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCG
GTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTAC
TCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGT
ACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCG
CACAGTGYACCCGGAGGAGCACAGCAGATGGAGGGACAGMTCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAG
CTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAA
GCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGRAAAACCTACCCAGCA
AAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATA
GATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTTCTCT
TGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAA
TTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTT

Protein Sequence    (SEQ ID NO:920):
MSNYVNDMWPGSPQEKDSPSTSRSGGSSRLSSRSRSRSFSRSSRSHSRVSSRFSSRSRRSKSRSRSRRRHQRKYRRYSRSYSRSRSRSRSRRYRERRYGF
TRRYYRSPSRYRSRSRSRSRSRGRSYCGRAYAIARGQRYYGFGRTVYPEEHSRWRDRSRTRSRSRTPFRLSEKDRMELLEIAKTNAAKALGTTNIDLPAS
LRTVPSAKETSRGIGVSSNGAKPELSEKVTEDGTRNPNEKPTQQRSIAFSSNNSVAKPIQKSAKAATEEASSRSPKIDQKKSPYGLWIPI


SNP Information

Context             (SEQ ID NO:4420):
AGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTC
K
ACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTT
Celera SNP ID:            hCV25991219
SNP Position Transcript:  229
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,38)   total(G,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:920, 20, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4421):
TCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAACTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATG
R
AAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAATAATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCA
Celera SNP ID:            hCV2509975
SNP Position Transcript:  885
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:920, 239, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4422):
GGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAG
M
TCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAG
Celera SNP ID:            hCV25940385
SNP Position Transcript:  640
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,36)   total(A,67|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:920, 157, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4423):
CCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTG
Y
ACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAGATCGAATGGAGCTGTTAGA
Celera SNP ID:            hCV25940434
SNP Position Transcript:  608
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,2|T,36)   total(C,2|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:920, 147, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:4424):
CCGAAAGGAAGGCGTCTGTTGAGCCTTTCTCTCAGTCGTGAGGGAGGCGTCGACGGCGTGCGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCC
K
CAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATT
Celera SNP ID:            hCV25991262
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,40)   total(G,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:920, 13, (P,CCG)   (P,CCT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255392 - 30000034447440
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894653 - 209000073752520
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..34949311)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:224):
CAGACTAATCTCCTTAAAGACCCGTTAAGCAGGGGAGAGACGGTRGAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCT
GCGGTCCGCTGGGATCWGGCAGGTCCAGGGTGAAGGAGATGGGGCTGGAGAGGCTGAGCAGTCCGGGTTCGCTGTCCGCCACTTCGGCGCGGAATCAGAG
CAGGACTTGCTGAGCCCTCCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCTYCCCCTGGAGCTGTAGCGGCAGCAGCA
GCAGGAAGCCGAGCCGGGMTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAYTCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCC
TACGGAGGGAGCGGCCCCAGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGGTGGCACGAGCGGAGGCGGGGCCCGGGCGTGGGGCACGGC
TGGGGAAGCTGCCGCCTCSGGCCCTGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGG
CTCCGGCGGCCCATGCCCTGGCTGSTGCTACTGCCTCTCCTGCTWCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGC
CYGAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCGCGCTGGGGCTTGAGCTGCGGCGCTTGGGGCCGGGTTGCTTGCGCATCAACCATCT
GGGTGCGCCCAGTCCGCGCTACCTGGAGCTGGACCTGACGAGTGGAGCGCTCTTCGTCAACGAGCGCATTGATCGGGAGGCGCTGTGTGAGCAGCGGCCT
CGCTGCCTGCTCAGCTTGGAAGTGCTGGCGCACAACCCCGTGGCGGTGAGCGCCGTTGAGGTGGAAATATTGGACATCAACGACAACTCACCGCGTTTCC
CGCGGCCCAACTACCAGCTTCAGGTAAGCGAATCGGTGGCGCCTGGYGCGCGCTTTCACATAGAGAGTGCGCAGGACCCCGACGTGGGCGCCAACTCAGT
ACAGACCTACGAGCTCAGCCCCAGCGAGCACTTCGAGCTGGACCTTAAGCCCCTGCAGGAGAACAGTAAAGTGCTTGAGCTGGTGCTGCGTAAGGGCCTA
GACCGGGAGCAGGCAGCCTTGCACCACCTGGTTCTCACAGCCGTGGATGGGGGCATCCCAGCCCGCTCGGGTACGGCACAGATCTCTGTGCGTGTCCTGG
ACACTAACGACAACTCTCCTGCCTTTGACCAGTCCACTTATCGCGTCCAGCTACGGGAGGACTCACCCCCAGGCACATTGGTGGTGAAGCTGAATGCCTC
AGACCCGGATGAGGGCTCCAATGGTGAGCTCAGGTACTCCTTGAGCAGCTACACGTCGGACCGGGAGAGGCAGCTCTTCAGCATAGATGCCAGTACCGGG
GAAGTGCGAGTAATTGGGGGYCTGGATTATGAGGAAGCCTCCTCCTACCAGATCTATGTGCAGGCGACTGACCGGGGTCCAGTGCCCATGGCAGGTCACT
GCAAGGTGCTGGTGGACATCGTGGACGTGAATGACAATGCCCCAGAGGTGGTGCTCACGGACCTGTATAGCCCAGTGCCTGAGAATGCTACACCCAACAC
CATTGTGGCCGTTCTCAGTGTCAATGACCAAGACTCAGGCCCCAACCGGAAAGTGAGCCTGGGTCTGGAGGCCACACTGCCTTTCCGACTGAATGGCTTT
GGAAACTCCTATACACTGGTGGTGAGCGGCCCACTGGACCGAGAGCGGGTGGCTGTCTACAACATCACGGTGACAGCCACAGATGGGGGAATACCGCAGC
TCACATCCCTGCGTACACTGAAGGTTGAGATCTCTGACATCAATGACAATCCACCAAGCTTCCTGGAGGACTCCTATTCCATCTACATACAGGAGAACAA
TTTGCCAGGTGTGTTGCTCTGTACTGTGCAAGCCACAGACCCAGATGAAAAGGAGAATGCAGAGGTGACCTACTCCCTTCTGGAGAGGGAGATTCAAGGG
CTGCCAGTCACCTCCTATGTCTCCATTAACAGTGCCAGTGGCAGCCTTTATGCTGTCAACTCCTTTGACTATGAGAAGTTTCGGGAGTTCTTTGTGACTG
TGGAGGCRCAGGACAAGGGGAGCCCACCACTGAGCAGCACTGTGACTGCCAACGTATATGTGGTGGACATGAATGACCATGCCCCTCACATTCTGTACCC
TACCTCAACCAACTCGTCAGCAGCCTTCGAGATGGTGCCTCGAACTGCCCCTGCTGGCTACCTGGTCACCAAAGTCATAGCTATGGACTCAGACTCTGGG
CAAAATGCTTGGCTTTTTTACCATCTAGCCCAGACTTCTGACCTGGACCTCTTTAAGGTAGAGCTGCACACAGGAGAAATTAGGACTACCAGGAAGATGG
GAGATGAGAGTGGTAGCACTTTCAACCTGACCGTGGTGGTCCGAGATAATGGAGAGCCATCACTATCAGCCTCTGTGGCCATTACAGTAGCTGTGGTGGA
TAGGGTTTCCAAAATCCTCCCTGACACTCAGAGGCATGTTAAGAGCCCTCGGACATACTCTGAAATTACCCTTTATCTAATAATAGCATTAAGCACAGTG
TCTTTTATATTTCTTTTGACAATCATCATTTTGAGCATCATCAAGTGCTACCGCTACACTGCGTATGGCACTGCATGCTGTGGAGGCTTCTGTGGAGTAA
GGGAAAGGTCCCCTGCAGAACTGTACAMACAAGCCAACAACAATATTGATGCCAGGATACCGCATGGCCTCAAAGTGCAGCCTCACTTCATTGAAGTTCG
AGGGAATGGCTCCCTCACCAAGACCTACTGCTACAAGGCCTGTCTGACAGCAGGCTCAGGGAGTGACACTTTCATGTTTTACAATACAGGGGCCCAGACA
GGACCAGGGCCTTCGGGAGCCCAAGCAGCAGTGACTGRCAGCAGGAATCTCACAGGCCAAAGTGGTCAGAATGCTGGGAACCTGATTATTCTCAAAAATG
AGGCTGTTTCTCAAAATGAGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGC
TGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTC
GGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGACAAATTCATTATCCCAG
GATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAA
GAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGAAACAAGC
CACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATC
TGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTG
TTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGT
GCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACC
GCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTAT
CAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACT
GACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAG
AACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGC
CAGATCCTTTTCCAATACTTATGKAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGT
CTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCT
ACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTG
CATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTA
TATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCT
ACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACRTGAAATCAATCTCCCATATGTAT
GCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTG
TTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACA
GTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGA
ATGGATAAAGCTGTTTTGKTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTG
AAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGT
TATAATGTACAATTTAGAAGTTTGATTAATTATATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAA
AAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAA
CACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCT
AATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATGTTAGTTACTAGTTATTACAGCTGTAA
GGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:921):
MEQAGTRPAATEHPRLRRPMPWLLLLPLLLLLLLLLPGPAASQLRYSVPEEQAPGALVGNVARALGLELRRLGPGCLRINHLGAPSPRYLELDLTSGALF
VNERIDREALCEQRPRCLLSLEVLAHNPVAVSAVEVEILDINDNSPRFPRPNYQLQVSESVAPGARFHIESAQDPDVGANSVQTYELSPSEHFELDLKPL
QENSKVLELVLRKGLDREQAALHHLVLTAVDGGIPARSGTAQISVRVLDTNDNSPAFDQSTYRVQLREDSPPGTLVVKLNASDPDEGSNGELRYSLSSYT
SDRERQLFSIDASTGEVRVIGGLDYEEASSYQIYVQATDRGPVPMAGHCKVLVDIVDVNDNAPEVVLTDLYSPVPENATPNTIVAVLSVNDQDSGPNRKV
SLGLEATLPFRLNGFGNSYTLVVSGPLDRERVAVYNITVTATDGGIPQLTSLRTLKVEISDINDNPPSFLEDSYSIYIQENNLPGVLLCTVQATDPDEKE
NAEVTYSLLEREIQGLPVTSYVSINSASGSLYAVNSFDYEKFREFFVTVEAQDKGSPPLSSTVTANVYVVDMNDHAPHILYPTSTNSSAAFEMVPRTAPA
GYLVTKVIAMDSDSGQNAWLFYHLAQTSDLDLFKVELHTGEIRTTRKMGDESGSTFNLTVVVRDNGEPSLSASVAITVAVVDRVSKILPDTQRHVKSPRT
YSEITLYLIIALSTVSFIFLLTIIILSIIKCYRYTAYGTACCGGFCGVRERSPAELYKQANNNIDARIPHGLKVQPHFIEVRGNGSLTKTYCYKACLTAG
SGSDTFMFYNTGAQTGPGPSGAQAAVTDSRNLTGQSGQNAGNLIILKNEAVSQNEPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS
SATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNS
TTDNSDQ


SNP Information

Context             (SEQ ID NO:4425):
ATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTG
K
TCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5319
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:921, None   



Context             (SEQ ID NO:4426):
ATGGTGAGCTCAGGTACTCCTTGAGCAGCTACACGTCGGACCGGGAGAGGCAGCTCTTCAGCATAGATGCCAGTACCGGGGAAGTGCGAGTAATTGGGGG
Y
CTGGATTATGAGGAAGCCTCCTCCTACCAGATCTATGTGCAGGCGACTGACCGGGGTCCAGTGCCCATGGCAGGTCACTGCAAGGTGCTGGTGGACATCG
Celera SNP ID:            hCV29063534
SNP Position Transcript:  1521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 507, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:4427):
TGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTAC
R
TGAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4977
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:921, None   



Context             (SEQ ID NO:4428):
TGAGCGCCGTTGAGGTGGAAATATTGGACATCAACGACAACTCACCGCGTTTCCCGCGGCCCAACTACCAGCTTCAGGTAAGCGAATCGGTGGCGCCTGG
Y
GCGCGCTTTCACATAGAGAGTGCGCAGGACCCCGACGTGGGCGCCAACTCAGTACAGACCTACGAGCTCAGCCCCAGCGAGCACTTCGAGCTGGACCTTA
Celera SNP ID:            hCV25996790
SNP Position Transcript:  1047
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,7|T,1)   total(C,38|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 349, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:4429):
GGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCTGGCTGCTGCTACTGCCTCTCCTGCT
W
CTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCCAGAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCG
Celera SNP ID:            hCV25991842
SNP Position Transcript:  645
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,26)   total(A,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 215, (L,CTA)   (L,CTT)   



Context             (SEQ ID NO:4430):
GATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATG
K
AAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4424
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:921, None   



Context             (SEQ ID NO:4431):
ATTTTGAGCATCATCAAGTGCTACCGCTACACTGCGTATGGCACTGCATGCTGTGGAGGCTTCTGTGGAGTAAGGGAAAGGTCCCCTGCAGAACTGTACA
M
ACAAGCCAACAACAATATTGATGCCAGGATACCGCATGGCCTCAAAGTGCAGCCTCACTTCATTGAAGTTCGAGGGAATGGCTCCCTCACCAAGACCTAC
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2828
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:921, 943, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4432):
TCCGGCGGCCCATGCCCTGGCTGCTGCTACTGCCTCTCCTGCTGCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCC
Y
GAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCGCGCTGGGGCTTGAGCTGCGGCGCTTGGGGCCGGGTTGCTTGCGCATCAACCATCTGG
Celera SNP ID:            hCV3297616
SNP Position Transcript:  702
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,19|T,5)   total(C,48|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 234, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 234, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:4433):
GTCCGCCACTTCGGCGCGGAATCAGAGCAGGACTTGCTGAGCCCTCCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCT
Y
CCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGGTTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAGTCAGCGAGGACGG
Celera SNP ID:            hCV8939944
SNP Position Transcript:  274
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,10)      total(C,10|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 92, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4434):
GCCTGTCTGACAGCAGGCTCAGGGAGTGACACTTTCATGTTTTACAATACAGGGGCCCAGACAGGACCAGGGCCTTCGGGAGCCCAAGCAGCAGTGACTG
R
CAGCAGGAATCTCACAGGCCAAAGTGGTCAGAATGCTGGGAACCTGATTATTCTCAAAAATGAGGCTGTTTCTCAAAATGAGCCACGACAGCCCAACCCT
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3038
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:921, None   



Context             (SEQ ID NO:4435):
TGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCTGGCTG
S
TGCTACTGCCTCTCCTGCTGCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCCAGAGGAGCAGGCACCCGGCGCGCT
Celera SNP ID:            hCV25991787
SNP Position Transcript:  625
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,20)   total(C,56|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:921, 209, (L,CTG)   (V,GTG)   



Context             (SEQ ID NO:4436):
AGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGGTGGCACGAGCGGAGGCGGGGCCCGGGCGTGGGGCACGGCTGGGGAAGCTGCCGCCTC
S
GGCCCTGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCT
Celera SNP ID:            hCV25991046
SNP Position Transcript:  519
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(C,2|G,10)   total(C,2|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:921, 173, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:4437):
AAGACCCGTTAAGCAGGGGAGAGACGGTGGAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCTGCGGTCCGCTGGGATC
W
GGCAGGTCCAGGGTGAAGGAGATGGGGCTGGAGAGGCTGAGCAGTCCGGGTTCGCTGTCCGCCACTTCGGCGCGGAATCAGAGCAGGACTTGCTGAGCCC
Celera SNP ID:            hCV2417210
SNP Position Transcript:  117
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,9)   caucasian(A,16|T,22)   total(A,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 39, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,24|T,6)   caucasian(A,11|T,17)   total(A,35|T,23)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 39, (P,CCA)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)   JBIC-allele(T,661|A,826)   total(A,826|T,661)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 39, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:4438):
CAGACTAATCTCCTTAAAGACCCGTTAAGCAGGGGAGAGACGGT
R
GAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCTGCGGTCCGCTGGGATCCGGCAGGTCCAGGGTGAAGGAGATGGGGC
Celera SNP ID:            hCV25970751
SNP Position Transcript:  45
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 15, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4439):
CCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCTCCCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGG
M
TGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAGTCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCCTACGGAGGGAGCGGCCCCA
Celera SNP ID:            hCV2417211
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,30)   caucasian(C,26)   total(A,2|C,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 107, (R,AGG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 107, (R,AGG)   (R,CGG)      



Context             (SEQ ID NO:4440):
TCACCTCCTATGTCTCCATTAACAGTGCCAGTGGCAGCCTTTATGCTGTCAACTCCTTTGACTATGAGAAGTTTCGGGAGTTCTTTGTGACTGTGGAGGC
R
CAGGACAAGGGGAGCCCACCACTGAGCAGCACTGTGACTGCCAACGTATATGTGGTGGACATGAATGACCATGCCCCTCACATTCTGTACCCTACCTCAA
Celera SNP ID:            hCV25991084
SNP Position Transcript:  2208
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,14)   total(A,1|G,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 736, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:4441):
TTTCCTTTTCCCTCCCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGGTTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGA
Y
TCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCCTACGGAGGGAGCGGCCCCAGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGG
Celera SNP ID:            hCV2417212
SNP Position Transcript:  361
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,23)   caucasian(C,1|T,13)   total(C,4|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 121, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:921, 121, (L,CTG)   (L,TTG)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255390 - 30000034447335
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894629 - 209000073752489
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35074178)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:225):
ATGGATTATCACTGGCGAGGAGAGCTGRGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACT
CCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTSCGGGTGGC
GTCCAAAAGACACCGGGACCTTCTGGAGGTAARTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCG
GAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCC
GGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAKCTAACTCCGT
GTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCKTATTAAGAAAATCCTTG
GACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGG
ATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCARACTGAATGCTTC
TGATCSGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGA
GAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATT
GCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTAC
TGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAMCTGCTCSCTGATGCCCCAYGTCCCCTTCAAGCTGGTGTCCACC
TTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTT
CGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAA
CAACCCGCCGGGCTGCCACATCTTCACGGTGTCWGCGYGRGAYGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTKGTGGAGCGGCGGGTGGGC
GAGCGCKCGYTGTCGAGCTACRTKTCGGTGCACRCGGAGAGCGGCAAGGTGTACKCGCTGCAGCCGCTGGACCACGAGGAGCTRGAGCTGCTGCAGTTCC
AGGTGAGCGCGCGCGACGCGGGCGTGCMGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAAYGACAACGCGCCGGCACTGCTGGA
GCCTCGGGTGGGTGGCAYTGGTGGCGCAGCGAGCRAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCSGAC
TCGGGCTACAACGCGTGGCTTTCGTATGAGCWGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGMGAGATCAGCACCA
CTCGTGTCCTGGACGAAGYGGACTCTCCGCGCCACCGTCTGCTGGTSCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGT
GTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCRCTGGTGGATGTCAACGTGTACCTG
ATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCKCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGG
CGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGAC
GGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAACCACGA
CAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAG
GGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTG
GACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGG
CAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGA
CCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGG
CAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTA
GAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCA
AGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACA
CTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGG
CTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTA
AAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGT
CTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGAT
CTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAA
AAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAA
ATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCT
GAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTC
TCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAA
AAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCC
TTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGA
AATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCT
TTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGAT
ACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTA
ACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTA
ATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGAT
TAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAG
CTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTA
GGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAAT
GTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCAT
TTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:922):
MDYHWRGELGSWRLLLLLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHRDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVDVEVKDVNDNPPVFRVKDQKLFVSESRMPDSRFPLEGASDADVGANSVLTYRLSSHDYFMLDVNSKNDENKLVELVLRKSL
DREDAPAHHLFLTATDGGKPELTGTVQLLVTVLDVNDNAPTFEQSEYEVRIFENADNGTTVIKLNASDPDEGANGAISYSFNSLVETMVIDHFSIDRNTG
EIVIRGNLDFEQENLYKILIDATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVTCSLMPHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASLSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVG
ERSLSSYISVHTESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLEPRVGGTGGAASKLVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPAASSPRIPFRVGLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRQSAGVLGPEAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSALPTEGGCRAGKPTLVCSSAVGSWSYSQQQPQRVCSGEGPPKTDLMAFSPCLPPDLGSVDVGEEQDLNVDHGLKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4442):
TCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACAT
K
TCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCG
Celera SNP ID:            hCV25964461
SNP Position Transcript:  1524
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,31)   caucasian(T,40)   total(G,7|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 508, (M,ATG)   (I,ATT)   



Context             (SEQ ID NO:4443):
CTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTAC
R
TTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGG
Celera SNP ID:            hCV25964463
SNP Position Transcript:  1522
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,20|G,16)   total(A,44|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 508, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:4444):
GGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTAC
K
CGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCA
Celera SNP ID:            hCV25963930
SNP Position Transcript:  1555
SNP Source:               Applera
Population(Allele,Count): african american(G,30|T,6)   caucasian(G,40)   total(G,70|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 519, (A,GCG)   (S,TCG)   



Context             (SEQ ID NO:4445):
CGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCT
K
GTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGC
Celera SNP ID:            hCV25964556
SNP Position Transcript:  1482
SNP Source:               Applera
Population(Allele,Count): african american(G,11|T,19)   caucasian(G,6|T,26)   total(G,17|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 494, (L,CTG)   (L,CTT)   



Context             (SEQ ID NO:4446):
CAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGG
M
GAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGG
Celera SNP ID:            hCV25960326
SNP Position Transcript:  1887
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(A,3|C,15)   total(A,3|C,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 629, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:4447):
TGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTC
W
GCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACA
Celera SNP ID:            hCV25965101
SNP Position Transcript:  1434
SNP Source:               Applera
Population(Allele,Count): african american(A,9|T,21)   caucasian(A,5|T,15)   total(A,14|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 478, (S,TCA)   (S,TCT)   



Context             (SEQ ID NO:4448):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4253
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:922, None   



Context             (SEQ ID NO:4449):
GTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGC
M
GCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCA
Celera SNP ID:            hCV25963796
SNP Position Transcript:  1628
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,36)   caucasian(C,40)   total(A,2|C,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 543, (Q,CAG)   (P,CCG)   



Context             (SEQ ID NO:4450):
AGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGC
W
GCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGC
Celera SNP ID:            hCV25964954
SNP Position Transcript:  1832
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,3|T,35)   total(A,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 611, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:4451):
TGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCT
R
GAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACG
Celera SNP ID:            hCV25963869
SNP Position Transcript:  1584
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,4)   caucasian(A,8|G,8)   total(A,16|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 528, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:4452):
GGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCG
Y
TGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGC
Celera SNP ID:            hCV25964500
SNP Position Transcript:  1510
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,11)   caucasian(C,21|T,7)   total(C,36|T,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 504, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:4453):
GCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGC
K
CGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAG
Celera SNP ID:            hCV25964501
SNP Position Transcript:  1507
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(G,4|T,34)   total(G,4|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 503, (A,GCG)   (S,TCG)   



Context             (SEQ ID NO:4454):
CTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAG
Y
GGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGC
Celera SNP ID:            hCV25995377
SNP Position Transcript:  1919
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,23|T,1)   total(C,59|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 640, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:4455):
TGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGC
S
GACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCA
Celera SNP ID:            hCV25961000
SNP Position Transcript:  1797
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,38)   total(C,69|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 599, (A,GCC)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,24)   total(C,59|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 599, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:4456):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5148
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:922, None   



Context             (SEQ ID NO:4457):
AGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAA
Y
GACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGA
Celera SNP ID:            hCV25963296
SNP Position Transcript:  1677
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,26)   caucasian(C,11|T,29)   total(C,21|T,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 559, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:4458):
TCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTT
S
CGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGC
Celera SNP ID:            hCV25969030
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|G,3)   total(C,71|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 64, (F,TTC)   (L,TTG)   



Context             (SEQ ID NO:4459):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4806
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:922, None   



Context             (SEQ ID NO:4460):
ACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCG
R
GACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGA
Celera SNP ID:            hCV25965097
SNP Position Transcript:  1440
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,1)   caucasian(A,5|G,5)   total(A,8|G,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 480, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4461):
TGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTC
K
TATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCT
Celera SNP ID:            hCV25972743
SNP Position Transcript:  583
SNP Source:               Applera
Population(Allele,Count): african american(G,24|T,10)   caucasian(G,33|T,3)   total(G,57|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 195, (V,GTA)   (L,TTA)   



Context             (SEQ ID NO:4462):
TGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGA
Y
GCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCG
Celera SNP ID:            hCV25964636
SNP Position Transcript:  1443
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,15)   caucasian(C,19|T,21)   total(C,36|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 481, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:4463):
ATGGATTATCACTGGCGAGGAGAGCTG
R
GATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCAC
Celera SNP ID:            hCV27474938
SNP Position Transcript:  28
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 10, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:4464):
CGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCG
Y
GAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGA
Celera SNP ID:            hCV25965098
SNP Position Transcript:  1438
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,1)   caucasian(C,2|T,2)   total(C,3|T,3)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 480, (R,CGA)   (X,TGA)   



Context             (SEQ ID NO:4465):
GGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGC
R
AGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCA
Celera SNP ID:            hCV25961117
SNP Position Transcript:  1735
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,11)   caucasian(A,12|G,8)   total(A,17|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 579, (K,AAG)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,6)   total(G,1|A,6) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 579, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:4466):
TACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCA
Y
GTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGTTGGTGGTAA
Celera SNP ID:            hCV26311950
SNP Position Transcript:  1176
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 392, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4467):
TATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTC
S
CTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATG
Celera SNP ID:            hCV26311951
SNP Position Transcript:  1164
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 388, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:4468):
TGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGC
R
CTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCAC
Celera SNP ID:            hCV25959077
SNP Position Transcript:  2076
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,3|G,15)   total(A,3|G,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 692, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:4469):
ACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGA
M
CTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCG
Celera SNP ID:            hCV26311952
SNP Position Transcript:  1157
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 386, (N,AAC)   (T,ACC)      



Context             (SEQ ID NO:4470):
AATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATC
S
GGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATA
Celera SNP ID:            hCV26311954
SNP Position Transcript:  806
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 269, (P,CCG)   (R,CGG)      



Context             (SEQ ID NO:4471):
GTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCA
R
ACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGAT
Celera SNP ID:            hCV26311955
SNP Position Transcript:  788
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 263, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:4472):
GTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAA
R
TCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAC
Celera SNP ID:            hCV25968525
SNP Position Transcript:  233
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,7)   caucasian(A,13|G,23)   total(A,42|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 78, (N,AAT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 78, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:4473):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2657
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 886, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4474):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2867
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:922, None   



Context             (SEQ ID NO:4475):
GCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGA
K
CTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAG
Celera SNP ID:            hCV25973333
SNP Position Transcript:  490
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,6)   caucasian(G,28|T,8)   total(G,54|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 164, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:4476):
TGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCAC
R
CGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCT
Celera SNP ID:            hCV25964441
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,12)   caucasian(A,17|G,11)   total(A,31|G,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 512, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:4477):
GCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCA
Y
TGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGG
Celera SNP ID:            hCV25996814
SNP Position Transcript:  1718
SNP Source:               Applera
Population(Allele,Count): african american(C,2)   caucasian(C,7|T,1)   total(C,9|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:922, 573, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:4478):
GCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGT
S
CTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGT
Celera SNP ID:            hCV25994856
SNP Position Transcript:  1947
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,22|G,2)   total(C,56|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 649, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:4479):
TGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGC
K
CTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAAC
Celera SNP ID:            hCV25996387
SNP Position Transcript:  2160
SNP Source:               Applera
Population(Allele,Count): african american(G,17|T,1)   caucasian(G,5|T,1)   total(G,22|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:922, 720, (A,GCG)   (A,GCT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348261 - 30000034447352
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913517 - 30000034447424
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35078371..35081215)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:226):
CAACAATGGCCACACATCGAGATTGAAATGAAGGGATAAAAACATTCCTATAAATTCGAAGGCAAGTTTTGCTGACTAGAAAAACAAGCCAATAATTTGA
AATGGTGTGCCCGAATGGATACGACCCAGGGGGCCGACATCTACTGCTGTTTATTATAATTCTAGCAGCTTGGGAGGCAGGGAGAGGCCAGCTCCACTAC
TCGGTCCCCGAGGAGGCTAAACATGGCAACTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTSGAGCTGGCGGAGCTGGTGCCGCGCCSGTTCCGGGCGG
TGTGCAAATTCCGTGGGGATCTTCTGGAGRTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATRGACCGCGAGGAGCTGTGCGGGRGGAGCGC
GGAGTGCAGCATRCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCGGTGTTC
CCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCC
TGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTT
AGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTG
GACAACAATGACAATYCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCT
CAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGG
GGCAATCACAGTGATAGGACATATGGRTTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCAT
TGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTA
CCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCAC
CTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCT
TCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGA
ACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCYGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGG
CGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTC
CAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGG
CGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGA
CTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGSGAGATCAGCACG
ACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTRGCTGACAGCCACAGCCACCGTGCTGG
TGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCRTTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCT
GATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGT
TTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGA
CAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTA
GTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAA
TTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGA
GGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAA
TGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTA

Protein Sequence    (SEQ ID NO:923):
MVCPNGYDPGGRHLLLFIIILAAWEAGRGQLHYSVPEEAKHGNFVGRIAQDLGLELAELVPRLFRAVCKFRGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVERPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLL
DREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAPVFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTVLVEVVDVNDNAPQLTLTSLSLPIPEDAQPGTVITLISVFDRDFGVNGQVTCSLTPRVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAGDADAQKNALVSYSLVELRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVRELVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPVAAGASIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSRASLGIAGPETELVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSAPSSEGACSLVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDNVSHK


SNP Information

Context             (SEQ ID NO:4480):
GTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCAT
R
CACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCGGTGTTCCCAGCGACACAAA
Celera SNP ID:            hCV11158011
SNP Position Transcript:  413
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,19)   caucasian(A,20|G,18)   total(A,35|G,37)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 138, (K,AAG)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,8)   caucasian(A,20|G,12)   total(A,36|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 138, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:4481):
CCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGG
R
GGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCC
Celera SNP ID:            hCV11158012
SNP Position Transcript:  393
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,34)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 131, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4482):
GCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGC
Y
GGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCG
Celera SNP ID:            hCV25764777
SNP Position Transcript:  1567
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 523, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:4483):
GGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGC
R
TTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACAC
Celera SNP ID:            hCV25631141
SNP Position Transcript:  2157
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,40)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 719, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4484):
TCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAAT
Y
CCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGG
Celera SNP ID:            hCV25631142
SNP Position Transcript:  816
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,4)   caucasian(C,22)   total(C,44|T,4)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 272, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,40)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 272, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:4485):
GATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGG
R
TTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGAT
Celera SNP ID:            hCV25631143
SNP Position Transcript:  1027
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 343, (I,ATA)   (V,GTA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,29)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 343, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:4486):
GGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCT
R
GCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACC
Celera SNP ID:            hCV25631144
SNP Position Transcript:  2074
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,24)   caucasian(A,1|G,15)   total(A,3|G,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 692, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:4487):
CAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGG
S
GAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAG
Celera SNP ID:            hCV25631145
SNP Position Transcript:  1988
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,6)   caucasian(C,16)   total(C,38|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 663, (A,GCC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 663, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:4488):
CGGAGCTGGTGCCGCGCCTGTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGAT
R
GACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGA
Celera SNP ID:            hCV25631146
SNP Position Transcript:  371
SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,2)   caucasian(A,36)   total(A,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 124, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:4489):
CTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAG
R
TAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGT
Celera SNP ID:            hCV25631147
SNP Position Transcript:  330
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,21)   caucasian(A,2|G,34)   total(A,7|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:923, 110, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4490):
CAGCTCCACTACTCGGTCCCCGAGGAGGCTAAACATGGCAACTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCC
S
GTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGC
Celera SNP ID:            hCV25631148
SNP Position Transcript:  289
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,5|G,35)   total(C,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 97, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:4491):
TAGCAGCTTGGGAGGCAGGGAGAGGCCAGCTCCACTACTCGGTCCCCGAGGAGGCTAAACATGGCAACTTCGTGGGCCGCATCGCGCAGGACCTGGGGCT
S
GAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATT
Celera SNP ID:            hCV25631149
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|G,3)   total(C,73|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:923, 88, (S,TCT)   (C,TGT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348260 - 30000034447370
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913518 - 206000045673934
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35061342..35067730)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:227):
CTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGA
CATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGC
CATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTT
ATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGC
AAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAA
ATATGTACTTACACTTTGGRCCACGTGATGTCACTCTTTGSCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCA
ATTCTTTTTCACTCTYTCTGTGCTGAACGATGGCKAACACAGMAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAA
TTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGG
TGGGGAGMGGCCAGCTCCACTACTCSGTCCCSGAGGARGCCRAACAYGGCAMCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCT
GGTGCCGCGCCTGTTSCAGTTGGATTSCAAAKGCCGYGGGGAYCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGC
GAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTRGAMAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACA
TTAACGACAACCCTCCRGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGA
TGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTT
GGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGYCACCGATGGAGGCAAACCCGAGCTGACTGGCACCG
TTCAATTACTCATCACGGTACTGGACAACAATGACAAYGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAAC
GCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAG
TTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAG
GCTTCCCACCCCTGGCTGGTCATTGTACASTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTATCAAAACGCTCTCGGTTCCTGT
AAAAGAGGACGCACAACTGGGGACAGTTATTGCCCTGATTAGTGTGATCGACCTAGACGCAGATGCCAACGGGCAGGTKACCTGCTCCCTGACGCCCCAC
GTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCYCTGGACCGCGAGAGTGTGTCCGCCTAYGAGCTGGTGGTTA
CCGCGCGGGACSGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGA
GTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACKGTGTCTGCGCGGGACGCKGACGCGCAGGAGAACGCCCTGGTGTCCTAC
TCGCTGGTGGAGCGGCGGKTGGGCSAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACG
AGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAA
CGACAATGCGCCGGCGCTGCTGACACCTCGGATGAGGGGCACTGACGGCGCAGTGAGCGAGATGGTGCTGCGGTCGGTGGGCGCCGGCGTAGTGGTGGGG
AAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCATACGAGCTGCAGCCAGAAACSGCCAGCGCGAGCATCCCGTTCCGCGTGGGGC
TGTACACGGGCGAGATCAGCACAACGCGTGCCCTGGACGAAACGGACGCACCGCGCCAGCGCCTACTGGTGCTGGTGAAAGACCACGGGGAGCCAGCGCT
GACGGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGCGGCCAGGCGCCAAAGTCATCGTCGCRGGCGTCAGTGGGTGCCACGGGCCCCGAGGTGACG
CTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCTAGCCTGTTGGTTCTCACGCTGCTGCTGTACACTGTGCTGCGGTGCTCGGCGA
TGCCCACCGAGGGCGAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTG
CTCTGGCGAGGGTMMGCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCC
TCAGATTCAACTGGGAAGGTGGGTTTTTCTAGCATTTTATTTATTTATATAATTTTTTTTCTTGAAAGATATTATCRATTACTCCCAGGGGCCGTTCAAA
TAGTTTTATTCATTTTTCTAGAAATCCAGCAGATTTTTTTTCTGATAAAGTAAACCCCTTAACATTGGAGCCGACTTTGTCTTGACTTCTAGTGAGAATT
ATAAACTGTATATTAAATAGATATTTTTTGGGTGCTGAATCAATTTTATTTAAATTTGTGATTAAAGTGACATTGAATTTCTGATGCTATGCTGCCATAA
CACTTGAAAACCAATTTAGTTGTTAGTCATTCATTAAACATTAACATCACTATCATTTATTTATTGCTAAATGATGCATAGTATTTTAGTCTACTTGTAT
TGTTTATAAGAAACCCAAGCAAAAATATATAGCAATTGTTACCTTGTTAAGTTTGTAGTTCTCTACATTTCTCTGGATGGAGACTGTGAACATCTGATTG
TTCAGCAACCTTCAGTATCTATTATTTTAATAAGAAAGAAACTTCCCCTAAACTTTAGAAAACAGTTGCTCCACTTTAGGAATCAAATTATGTCAATAAA
TGTTATAAACACAGCCTTCATTTCAACTTATATAAAATATGTTTTAAAATGCCTGACAATGTAGATAATTCAAGAAATGTTGACTGAAATTTTGTCTACA
CTTAGAACATTTTTTGAAATTCAGTTTACAGAAATTGGAGAAAATGCTTTTTAAACAAGTGTTTCCTTTCTTCAAGAAGAYATTCTCCTTTTAATYGAAA
TTTTCTCCATTCAGTGATAAAATGATCAGCCATGTGAAGATTCGAAACTTCGAGTTCTTTTGAAATTCAGAGTCTGTAACTTAAAACATTACCCTTATGA
ATTTAGATGAGAATTCACTTGTTCTGTCAGTAATCCATAAGACAGAAATCTGTTTTTTTAAAAATATCTTTTTCTCCTCTCAGCTCATACATAACACAAG
GCAGAAATCTGGATATGAGATTTGCCTCTTTAATGTCACTACATGTTATGTTTCCTGAATTGTAGTATGTGACTTTCAAAATGGTGGTTTTCCACACTCT
ACCTTTAGTGCAAGCTATTTGTTTGTTTTCTAATTTATAGTTTTAAAAACTTCGCTTATTGAGTTTTTGTTATGTGGTTTATATTTTTCTTTCTCTTTCA
GCTATTTTATTTAATATTGTGTCAGATATTTTACAAGGTATGACCTAATTAAAAACTCAGTAGAGAAAGATCAGAATGGCCTTGAGAATAGAGCCACAAA
AATAACTATGAAAATGCCAGTAACGTTTATTTAAAACAAAATATTTTAATTTTTAAATTTTCCCTTAAAACACACTTTTGGAATATGCTACAATATTACA
TGTTTTTTGTCTTTTTATTTTTCTGAGACGGAGTCGTTTTCTGCCACCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACGTCTGCCTCCTG
GGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACATGCCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGT
TTCATCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTTGTGATGCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGCTGTGAGCCACTGTGCCA
AGGCTTTTTTATTTTTTTTTTTTGTCATTTTCTTTCAAAACTTGAGTGGTCTCTGAGCTCCTGTCATTAAACCTATCTATATCTGTCTATCAGCACAACT
CACCTTGAATATAGTCTTATACTTTCAAGTATCTTTGTCTTTGCACGTTTTTCAAGTTTCATGTGCCATTTAAACTTGGACCCAGGTATCTGATTATTTG
ATGTGAATAGAGGGATGCTACAGATGTCATTTGTCTCCCGCCCTAAGTCCTCCAGTCTCCTTAGAGCTAGTACTTACTAAGCATTTACTATGTCATCAAT
AATCATAAAACGTATTTTTTTTTTTGAGTCAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTCCAAGCTCCCCCTCCC
GTGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTTGTATTTTTAGTAGAGATGG
GGTTTCACCGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCATGATCCTCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCG
CCTGGCCTAAAATGTGTTCTTTATTATTGACGGCTGTATTGATGGGATTGGTAATTTAGTCCTTCATATTAATCTCTATTCTCTCTCAGAGTACAAGCTC
TCATCATATGCAAATTCTCAGAAGGGCTGTGAACACCTTAGTAATAAATTTATCTTTTGAGGTCATTAGCAAACATGAACTCACAGGGATCCASAGATGG
TAAAATTCAAAACAGCCTGTCAAGTTCAAAACAGAGAGGTGAAAGCAGAAGAGACACTTTCCTATTTTGCCTAATAGGTCTCCTTATATGCATCTGTAGT
TAACATTCCTCAATTCAAGTTAGAATCATGAAACAATAATGAAGCTCCTCCTATGTCTCTTTTCAAGTTGTAATTACTATATAGGAAAAACTAAGTTGTC
ACCCAATATCTTAGACACTTTGAGAGCAAAGGGGGTGCTGTAAATAAGTATACAAGATCACAGACCTAAATTGAGCCTGTTCCAGACAAATTGGGGCCTA
TGGTCAACCTATCCTTAGACCTGCTAACGCATTAGCATTAGCAGCACCTAAGTCCTCATTGAATGTTCTGGTTCAAGGCTCCACCTCAGAAATTCTGAAA
TGGGTAGTAAGAGCAAATTTTCATTTTAAAGCACACCTGAGATGATTCTCATACAACCGAAATTTTAGATCCATAGCCCTATTTGATACTTGACAGTGCA
AGTTTCTGTAATTTAAAAAGATGTGGTGGCCTGACACCTGCAATCCCAACATTTTGGGAGGCCAAGGTGGGAGGGTCCCTTCCTTGAGCCCAGCAGTTTG
AGACCAATGTAGTGAGACTCATCTCTGCCAAAAAAAAAAAATTAGCCGGGCATGGTGGCACACATCTCTAGTCCCAATTACTCAGGAGGCTGAGGCGAGA
GAATCGCTTGAGCCTGGGACATTGAGGCTGCAGTGAACTGTGATGGCACAACTGCATTTCAGCCCGGGWGACAGCAAGATTCTGTCTC

Protein Sequence    (SEQ ID NO:924):
MLYSSRGDPEGQPLLLSLLILAMWVVGSGQLHYSVPEEAEHGTFVGRIAQDLGLELAELVPRLFQLDSKGRGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLL
DREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAPVFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTVLVEVVDVNDNAPQLTIKTLSVPVKEDAQLGTVIALISVIDLDADANGQVTCSLTPHVPFKLVST
YKNYYSLVLDRALDRESVSAYELVVTARDRGSPSLWATARVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRLG
ERSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLTPRMRGTDGAVSEMVLRSVGAGVVVGKVRAVDAD
SGYNAWLSYELQPETASASIPFRVGLYTGEISTTRALDETDAPRQRLLVLVKDHGEPALTATATVLVSLVESGQAPKSSSRASVGATGPEVTLVDVNVYL
IIAICAVSSLLVLTLLLYTVLRCSAMPTEGECAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEGPQKTDLMAFSPGLSPCAGSTERTGEPSASSDSTGKVG
FSSILFIYIIFFLERYYRLLPGAVQIVLFIFLEIQQIFFLIK


SNP Information

Context             (SEQ ID NO:4492):
CAGATGCCAACGGGCAGGTTACCTGCTCCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGC
Y
CTGGACCGCGAGAGTGTGTCCGCCTACGAGCTGGTGGTTACCGCGCGGGACCGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGG
Celera SNP ID:            hCV25970122
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(T,26)   total(C,9|T,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 412, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 412, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:4493):
AGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCC
R
AACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGA
Celera SNP ID:            hCV25968789
SNP Position Transcript:  842
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,31)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 40, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4494):
GAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGGCGAGGGTC
M
GCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCCTCAGATTCAACTGGG
Celera SNP ID:            hCV26311941
SNP Position Transcript:  3015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 764, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:4495):
GCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGTCCGCCTACGAGCTGGTGGTTACCGCGCGGGAC
S
GGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTT
Celera SNP ID:            hCV3163193
SNP Position Transcript:  2012
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,28)   caucasian(C,24|G,8)   total(C,34|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 430, (R,CGG)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,3)      total(G,3|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 430, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4496):
ACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGC
K
GACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCA
Celera SNP ID:            hCV26311943
SNP Position Transcript:  2170
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 482, (A,GCT)   (A,GCG)      482, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:4497):
CCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGTCCGCCTA
Y
GAGCTGGTGGTTACCGCGCGGGACCGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGT
Celera SNP ID:            hCV25970071
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,20)   total(C,52|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 421, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4498):
CAAGCTCTCATCATATGCAAATTCTCAGAAGGGCTGTGAACACCTTAGTAATAAATTTATCTTTTGAGGTCATTAGCAAACATGAACTCACAGGGATCCA
S
AGATGGTAAAATTCAAAACAGCCTGTCAAGTTCAAAACAGAGAGGTGAAAGCAGAAGAGACACTTTCCTATTTTGCCTAATAGGTCTCCTTATATGCATC
Celera SNP ID:            hCV3163196
SNP Position Transcript:  5594
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,7|G,7)      total(G,7|C,7) ;no_pop(C,-|G,-)   SC_12_A(G,11|C,12)   SC_12_C(G,9|C,12)   SC_12_AA(G,7|C,14)   total(G,27|C,38) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4499):
CGAACGGGAGAACCCTCTGCTTCCTCAGATTCAACTGGGAAGGTGGGTTTTTCTAGCATTTTATTTATTTATATAATTTTTTTTCTTGAAAGATATTATC
R
ATTACTCCCAGGGGCCGTTCAAATAGTTTTATTCATTTTTCTAGAAATCCAGCAGATTTTTTTTCTGATAAAGTAAACCCCTTAACATTGGAGCCGACTT
Celera SNP ID:            hCV25990863
SNP Position Transcript:  3177
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,2|G,26)   total(A,2|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 818, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:4500):
GACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGG
Y
CACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTAT
Celera SNP ID:            hCV26311945
SNP Position Transcript:  1365
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 214, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:4501):
GCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAG
M
AGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAG
Celera SNP ID:            hCV27917773
SNP Position Transcript:  643
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(A,0|C,20)   Myers-AT(A,0|C,48)   total(C,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4502):
TCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGC
K
AACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTC
Celera SNP ID:            hCV27917774
SNP Position Transcript:  635
SNP Source:               dbSNP
Population(Allele,Count): Pcdh-Pygmy(T,3|G,39)   Myers-Chimp(G,0|T,20)   Myers-AT(G,0|T,48)   total(G,39|T,71) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4503):
TTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCT
Y
TCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAG
Celera SNP ID:            hCV27917775
SNP Position Transcript:  616
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(T,0|C,20)   Myers-AT(T,0|C,48)   total(C,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4504):
GAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTG
S
CGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACA
Celera SNP ID:            hCV27917776
SNP Position Transcript:  541
SNP Source:               dbSNP
Population(Allele,Count): Pcdh-Pygmy(G,1|C,41)   total(G,1|C,41) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4505):
TGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTC
S
GTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATT
Celera SNP ID:            hCV25968821
SNP Position Transcript:  826
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,29|G,1)   total(C,63|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 34, (S,TCC)   (S,TCG)   



Context             (SEQ ID NO:4506):
CTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAA
Y
GCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAG
Celera SNP ID:            hCV25991250
SNP Position Transcript:  1438
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,24)   total(C,1|T,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 238, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:4507):
TGACTGAAATTTTGTCTACACTTAGAACATTTTTTGAAATTCAGTTTACAGAAATTGGAGAAAATGCTTTTTAAACAAGTGTTTCCTTTCTTCAAGAAGA
Y
ATTCTCCTTTTAATTGAAATTTTCTCCATTCAGTGATAAAATGATCAGCCATGTGAAGATTCGAAACTTCGAGTTCTTTTGAAATTCAGAGTCTGTAACT
Celera SNP ID:            hCV977320
SNP Position Transcript:  3881
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4508):
TAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGT
R
GACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGG
Celera SNP ID:            hCV25967599
SNP Position Transcript:  1054
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,15|G,13)   total(A,49|G,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 110, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4509):
TCAAAACGCTCTCGGTTCCTGTAAAAGAGGACGCACAACTGGGGACAGTTATTGCCCTGATTAGTGTGATCGACCTAGACGCAGATGCCAACGGGCAGGT
K
ACCTGCTCCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGT
Celera SNP ID:            hCV25996823
SNP Position Transcript:  1879
SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(G,1|T,17)   total(G,1|T,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 385, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4510):
GAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCA
M
CTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAG
Celera SNP ID:            hCV25968773
SNP Position Transcript:  852
SNP Source:               Applera
Population(Allele,Count): african american(C,28)   caucasian(A,1|C,31)   total(A,1|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 43, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:4511):
CTACACTTAGAACATTTTTTGAAATTCAGTTTACAGAAATTGGAGAAAATGCTTTTTAAACAAGTGTTTCCTTTCTTCAAGAAGACATTCTCCTTTTAAT
Y
GAAATTTTCTCCATTCAGTGATAAAATGATCAGCCATGTGAAGATTCGAAACTTCGAGTTCTTTTGAAATTCAGAGTCTGTAACTTAAAACATTACCCTT
Celera SNP ID:            hCV977321
SNP Position Transcript:  3896
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,7)      total(C,3|T,7) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4512):
TAGTCCCAATTACTCAGGAGGCTGAGGCGAGAGAATCGCTTGAGCCTGGGACATTGAGGCTGCAGTGAACTGTGATGGCACAACTGCATTTCAGCCCGGG
W
GACAGCAAGATTCTGTCTC
Celera SNP ID:            hCV977322
SNP Position Transcript:  6369
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4513):
AAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAG
M
GGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGC
Celera SNP ID:            hCV8940153
SNP Position Transcript:  808
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,19)   caucasian(A,27|C,3)   total(A,34|C,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 28, (R,AGA)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(A,11|C,12)   SC_12_C(A,11|C,12)   SC_12_AA(A,6|C,18)   total(C,42|A,28)no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 28, (S,AGC)   (R,AGA)      28, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:4514):
ATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACA
Y
GGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTC
Celera SNP ID:            hCV25968776
SNP Position Transcript:  847
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|T,1)   total(C,61|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 41, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:4515):
GTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGA
R
GCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCG
Celera SNP ID:            hCV25968792
SNP Position Transcript:  838
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,31|G,1)   total(A,65|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 38, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:4516):
CGAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGGCGAGGGT
M
CGCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCCTCAGATTCAACTGG
Celera SNP ID:            hCV8940138
SNP Position Transcript:  3014
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(A,1|C,23)   total(A,1|C,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 764, (T,ACG)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 764, (T,ACG)   (P,CCG)      



Context             (SEQ ID NO:4517):
GTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGG
R
CCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTG
Celera SNP ID:            hCV8940154
SNP Position Transcript:  520
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;Pcdh-Pygmy(G,21|A,21)   Myers-Ghimp(A,0|G,20)   total(G,41|A,21)no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:924, None   



Context             (SEQ ID NO:4518):
CAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGC
S
AGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCA
Celera SNP ID:            hCV25961023
SNP Position Transcript:  2225
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,27)   caucasian(G,38)   total(C,9|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 501, (Q,CAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,19)   caucasian(G,4)   total(C,7|G,23)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 501, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4519):
GGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCC
R
GTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGA
Celera SNP ID:            hCV11157872
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,10)   caucasian(A,15|G,1)   total(A,25|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 131, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 131, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4520):
TGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCAC
K
GTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAG
Celera SNP ID:            hCV25968867
SNP Position Transcript:  2152
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,38)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 476, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:4521):
AAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCG
Y
GGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCC
Celera SNP ID:            hCV25968230
SNP Position Transcript:  937
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 71, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:4522):
AACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGA
Y
CTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGG
Celera SNP ID:            hCV11157873
SNP Position Transcript:  943
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|T,1)   total(C,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 73, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 73, (D,GAT)   (D,GAC)      73, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:4523):
GGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAA
K
GCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAG
Celera SNP ID:            hCV25968253
SNP Position Transcript:  932
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(G,31|T,1)   total(G,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 70, (G,GGC)   (C,TGC)   



Context             (SEQ ID NO:4524):
TGCGGTCGGTGGGCGCCGGCGTAGTGGTGGGGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCATACGAGCTGCAGCCAGAAAC
S
GCCAGCGCGAGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACAACGCGTGCCCTGGACGAAACGGACGCACCGCGCCAGCGCCTACTGG
Celera SNP ID:            hCV25971403
SNP Position Transcript:  2569
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,26)   caucasian(G,34)   total(C,10|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 615, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4525):
GTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATT
S
CAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAG
Celera SNP ID:            hCV25968258
SNP Position Transcript:  927
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|G,1)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 68, (S,TCC)   (C,TGC)   



Context             (SEQ ID NO:4526):
TCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTT
S
CAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGC
Celera SNP ID:            hCV25968274
SNP Position Transcript:  916
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,32)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 64, (F,TTC)   (L,TTG)   



Context             (SEQ ID NO:4527):
ACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCC
S
GAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAG
Celera SNP ID:            hCV25968812
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,31)   total(C,1|G,61)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:924, 36, (P,CCC)   (P,CCG)   



Context             (SEQ ID NO:4528):
GGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGG
K
TGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGCTACA
Celera SNP ID:            hCV25992678
SNP Position Transcript:  2219
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,22)   caucasian(G,1|T,1)   total(G,7|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 499, (V,GTG)   (L,TTG)   



Context             (SEQ ID NO:4529):
CTGGTGCTGGTGAAAGACCACGGGGAGCCAGCGCTGACGGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGCGGCCAGGCGCCAAAGTCATCGTCGC
R
GGCGTCAGTGGGTGCCACGGGCCCCGAGGTGACGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCTAGCCTGTTGGTTCTCACG
Celera SNP ID:            hCV25958870
SNP Position Transcript:  2766
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,25)   caucasian(G,24)   total(A,5|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 681, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,34)   total(A,5|G,65)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 681, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:4530):
ATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGA
M
AGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAAT
Celera SNP ID:            hCV25967589
SNP Position Transcript:  1057
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(A,13|C,15)   total(A,13|C,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 111, (E,GAA)   (D,GAC)   



Context             (SEQ ID NO:4531):
CACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACA
S
TTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTATCAAAACGCTCTCGGTTCCTGTAAAAGAGGACGCACAACTGGGGACAGTTAT
Celera SNP ID:            hCV8940144
SNP Position Transcript:  1730
SNP Source:               Applera
Population(Allele,Count): african american(C,5|G,25)   caucasian(C,3|G,7)   total(C,8|G,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 336, (L,CTT)   (V,GTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:924, 336, (L,CTT)   (V,GTT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348263 - 30000034447281
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913515 - 206000045673900
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35091277..35093875)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:228):
GAAAGGAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGTGATAATYTYAAAAATATATAGTTAATTGGGAATTGAATTTACAAAATAC
ATTGTGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCT
TCTCCTCGCCTACTGGAAGGCAGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGAACCTTCGTTGGCCGCATCGCGCAGGACCTA
GGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAGGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTG
TGAATTCTCGGATCGACCGGGAGGAGCTGTGCCGGCGGAGGGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGT
GGAGGTGGCAGTGAAGGACATCAATGACAATCCGCCCAGGTTCTCCAGACAAGAACAARGATTATTCATTTTAGAGTCAAGAATGCCAGATTCGCGGTTT
CCGCTAGAGGGCGCGTCGGATTTGGATATTGGAGCAAATGCACAATTGAGATACAGGTTAAATCCAAACGAATATTTTGACTTAGATGTTAAAACAAATG
AAGAAGAAACGAACTTTTTAGAGCTGGTTTTGAGGAAATCCTTAGATAGAGAAGAAACACAAGAACACCGTRTATTAGTGATTGCAACTGATGGAGGAAA
ACCCGAACTAACAGGTACAGTTCAGTTGTTGATCAATGTATTGGATGCTAATGATAACGCCCCAGAATTTGATAAATCCATTTATAATGTCAGATTGTTG
GAAAATGCACCAAGTGGGACATTAGTTATTAAACTGAACGCCTCAGATGCAGATGAGGGCATCAATAAGGAAATAGTGTATTTCTTTAGTAATCTTGTTC
TTGACGATGTAAAGTCCAAATTTATAATTAATTCTAATACTGGTGAAATAAAAGTTAMCGGGGAACTGGATTATGAAGACTATAACTCATATGAAATTAA
TATTGATGCCATGGATAAAAGTACATTCCCATTATCAGGACACTGTAAAGTAGTAGTGAAACTCCTGGATGTGAATGATAATACCCCAGAGATGGCCATA
ACCACCCTTTTCCTGCCTGTCAAAGAGGAYGCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTCRGGTGCCAACGGGCAGGTGA
CCTGCTCCCTAATGCCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAYAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTC
GGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAGTKGCCGACGTGAACGACAACGCT
CCGGCGTTCGCGCAGCCCCAGTATACCGTGTTCGTGAAGGAGAACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTGCACGGGACGCGGACGCGCAGG
AGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGCCCGCTGTCGAGTTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGC
GCTGCAGCCGCTGGACCACGAGGAAGTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTRGGCAGCAACGTGACGCTGCAG
GTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGTGCCTCGAGTGGGTGGCACCGGCGGCGCAGTGAGCGAGCTGGTGCCGAGGTCAGTGG
GTGCGGGCCACGTGGTGGCGAAGGTGCGCGCAGTGGACCCTGATTCGGGCTACAACGCTTGGCTTTCGTATGAGCTGCAGCCAGCGCCTGGCAGTGCGCG
CATCCCGTTCCGCGTGGGGCTGTACACAGGCGAGATCAGCACAACACGCTCTCTGGATGAGACCGAAGCACYGCGCCACCGCCTTCTGGTGCTGGTGAAG
GACCATGGAGAGCCCCCGCTGACAGCCACAGCCACAGTGCTGGTGTCGCTGGTGGAAAGTGGCCAGGCGCCGAAGGCCTCATCGCGGGCGTCGGCGGGCG
CTGTGGGTCCCGAGGCTGTCCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACAC
CGCGCTGCGGTGCTCGGCGCAGCCCACCGAGGCCGTGTGCACACGGGGCAAGCCCACTCTGTTGTGCTCCAGCGCGGTGGGGAGCTGGTCGTACTCGCAG
CAGAGGAGACAGAGGGTGTGCTCTGGGGAAGCTCCACCCAAAACAGACCTCATGGCCTTCAGTCCAAGCCTTCCTCAGGGTCCCACCTCTACAGACAACG
TGAGTTTTCTAATATTAACATCCATCTTTCCCTCCCAATTTTCAAATATTAAATGTCACATTCACCCACTTTTTTTGTATTTAAAAATTATGTCTTAG

Protein Sequence    (SEQ ID NO:925):
MVYSRRGSLGSRLLLLWLLLAYWKAGSGQLHYSIPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKGRGDLLEVNLQNGILFVNSRIDREELCRRRAE
CSIHLEVIVDRPLQVFHVEVAVKDINDNPPRFSRQEQRLFILESRMPDSRFPLEGASDLDIGANAQLRYRLNPNEYFDLDVKTNEEETNFLELVLRKSLD
REETQEHRLLVIATDGGKPELTGTVQLLINVLDANDNAPEFDKSIYNVRLLENAPSGTLVIKLNASDADEGINKEIVYFFSNLVLDDVKSKFIINSNTGE
IKVNGELDYEDYNSYEINIDAMDKSTFPLSGHCKVVVKLLDVNDNTPEMAITTLFLPVKEDAPLSTVIALISVSDRDSGANGQVTCSLMPHVPFKLVSTF
KNYYSLVLDSALDRESVSVYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPQYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVGE
RPLSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLVPRVGGTGGAVSELVPRSVGAGHVVAKVRAVDPDS
GYNAWLSYELQPAPGSARIPFRVGLYTGEISTTRSLDETEAPRHRLLVLVKDHGEPPLTATATVLVSLVESGQAPKASSRASAGAVGPEAVLVDVNVYLI
IAICAVSSLLVLTLLLYTALRCSAQPTEAVCTRGKPTLLCSSAVGSWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDNVSFLILTSIFPSQFSN
IKCHIHPLFLYLKIMS


SNP Information

Context             (SEQ ID NO:4532):
CCCTGGACCGCGAGAGCGTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAGT
K
GCCGACGTGAACGACAACGCTCCGGCGTTCGCGCAGCCCCAGTATACCGTGTTCGTGAAGGAGAACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTG
Celera SNP ID:            hCV25631158
SNP Position Transcript:  1479
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,3)   caucasian(G,34|T,2)   total(G,57|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 493, (L,CTG)   (L,CTT)   



Context             (SEQ ID NO:4533):
CATTATCAGGACACTGTAAAGTAGTAGTGAAACTCCTGGATGTGAATGATAATACCCCAGAGATGGCCATAACCACCCTTTTCCTGCCTGTCAAAGAGGA
Y
GCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTAATGCCCCACGTTCCCTTCA
Celera SNP ID:            hCV25631159
SNP Position Transcript:  1230
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,40)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 410, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,40)   total(C,73|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 410, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 410, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4534):
GGCATCAATAAGGAAATAGTGTATTTCTTTAGTAATCTTGTTCTTGACGATGTAAAGTCCAAATTTATAATTAATTCTAATACTGGTGAAATAAAAGTTA
M
CGGGGAACTGGATTATGAAGACTATAACTCATATGAAATTAATATTGATGCCATGGATAAAAGTACATTCCCATTATCAGGACACTGTAAAGTAGTAGTG
Celera SNP ID:            hCV25765747
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,22)   caucasian(C,40)   total(A,2|C,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:925, 353, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:4535):
ATACCCCAGAGATGGCCATAACCACCCTTTTCCTGCCTGTCAAAGAGGACGCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTC
R
GGTGCCAACGGGCAGGTGACCTGCTCCCTAATGCCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCC
Celera SNP ID:            hCV25631160
SNP Position Transcript:  1281
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,40)   total(A,3|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 427, (R,CGA)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(G,40)   total(A,5|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 427, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4536):
GAGCTGCAGCCAGCGCCTGGCAGTGCGCGCATCCCGTTCCGCGTGGGGCTGTACACAGGCGAGATCAGCACAACACGCTCTCTGGATGAGACCGAAGCAC
Y
GCGCCACCGCCTTCTGGTGCTGGTGAAGGACCATGGAGAGCCCCCGCTGACAGCCACAGCCACAGTGCTGGTGTCGCTGGTGGAAAGTGGCCAGGCGCCG
Celera SNP ID:            hCV25631161
SNP Position Transcript:  2072
SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,16)   caucasian(C,22|T,16)   total(C,36|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:925, 691, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:4537):
GAAAGGAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGTGATAAT
Y
TAAAAAATATATAGTTAATTGGGAATTGAATTTACAAAATACATTGTGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTC
Celera SNP ID:            hCV25631154
SNP Position Transcript:  58
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,40)   total(C,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:925, 20, (L,CTC)   (F,TTC)   



Context             (SEQ ID NO:4538):
CGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAAGTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCT
R
GGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGTGCCTCGAGTGGGTGGCACCGGCGGCGCAGTGAGCG
Celera SNP ID:            hCV25631162
SNP Position Transcript:  1779
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,28)   caucasian(G,38)   total(A,8|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 593, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4539):
CCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAGGTGGCAGTGAAGGACATCAATGACAATCCGCCCAGGTTCTCCAGACAAGAACAA
R
GATTATTCATTTTAGAGTCAAGAATGCCAGATTCGCGGTTTCCGCTAGAGGGCGCGTCGGATTTGGATATTGGAGCAAATGCACAATTGAGATACAGGTT
Celera SNP ID:            hCV25631163
SNP Position Transcript:  559
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,39)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:925, 187, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4540):
GAAAGGAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGTGATAATAT
Y
AAAAATATATAGTTAATTGGGAATTGAATTTACAAAATACATTGTGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTCCC
Celera SNP ID:            hCV25631155
SNP Position Transcript:  60
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,17|T,23)   total(C,46|T,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 20, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:4541):
ATATTTTGACTTAGATGTTAAAACAAATGAAGAAGAAACGAACTTTTTAGAGCTGGTTTTGAGGAAATCCTTAGATAGAGAAGAAACACAAGAACACCGT
R
TATTAGTGATTGCAACTGATGGAGGAAAACCCGAACTAACAGGTACAGTTCAGTTGTTGATCAATGTATTGGATGCTAATGATAACGCCCCAGAATTTGA
Celera SNP ID:            hCV25631164
SNP Position Transcript:  772
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:925, 258, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:4542):
TTGCTCTGATCAGCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTAATGCCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAA
Y
AATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGT
Celera SNP ID:            hCV25631157
SNP Position Transcript:  1350
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,6)   caucasian(C,25|T,13)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:925, 450, (N,AAC)   (N,AAT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255410 - 30000034447428
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894657 - 209000073752522
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35108451)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:229):
TTTGGAGTCTGAAATATGGAGGATGCAGCTGCACTTGACTGACCGATTAAAAGATTTCCCTTGACTTTGAGAAACGATATTTAATCAGAACAAAATACTG
TGCACTAAAGATGGAGTTTTCCTGGGGAAGCGGCCAGGAATCCCGGCGTCTGCTGCTCTTACTTCTTCTCCTCGCAGCCTGGGAGGCAGGGAACGGTCAG
CTCCACTACTCGGTCTCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGACTGGAGCTGGCGGAGCTGGTGCCGCGCCTGT
TCCGGGTGGCGTCCAAAAGGCACCGGGGCCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCCG
GCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAACGATAACCCG
CCGGTGTTCCCAGCAACACAAAAGAACCTGTCCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCCTCGGATGCAGATATCGGGG
AGAACGCCCTGCTCACTTACAGACTGAGCCCAAATGAATACTTTTCTCTGGAAAAACCAYCTGATGACGAGCTGGTAAAAGGTCTTGGGCTTATATTACG
GAAATCTTTAGACAGAGAAGAAGCTCCGGAGATTTTTTTAGTGCTCACAGCCACTGATGGAGGCAAACCCGAGTTGACTGGCACCGTTCAGTTACTCATC
ACAGTACTGGATGCCAATGACAATGCCCCAGCTTTTGACAGAACCATTTATAAGGTGAGATTACTAGAAAATGTTCCTAATGGAACATTGGTAATTAAAC
TTAACGCCTCAGATTTAGACGAAGGATTGAATGGGGACATTGTTTATTCATTCTCAAATGATATTTCGCCAAATGTGAAATCCAAGTTTCACATAGATCC
AATTACTGGACAAATTATTGTAAAGGGATATATTGACTTTGAAGAAAGCAAATCCTATGAAATTATTGTAGAGGGCATTGATAAGGGACAGCTCCCACTT
TCTGGCCATTGTAGAGTTATTGTGGAAGTAGAAGACAACAACGATAATGTCCCAGATTTGGAATTCAAGTCTTTATCACTTCCAATTAGAGAGGACGCTC
CACTGGGTACAGTCATCGCCCTGATCAGCGTGTCCGACAAAGACATGGGTGTCAATGGGCTGGTCACCTGCTCCTTGACGTCCCACGTCCCCTTCAAGCT
GGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAGYGTGTCAGCCTATGAGCTGGTGGTGACCGCGCGAGACGGG
GGCTCGCCTTCGCTGTGGGCCACGGCCAGTGTTTCTGTGGAGGTGGCTGATGTGAACGACAACGCTCCGGCGTTCGCGCAGCCCGAGTACACAGTGTTCG
TGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCTGCGTGGGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTAGAGCG
GCGGGTAGGGGAGCGCGCGCTGTCGAGCTACGTTTCGGTGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTG
CTGCAGTTTCAGGTGACCGCKCGCGATGCCGGCGTGCCRCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAG
CACTGCTAGCGCCTCGGGCGGGTGGCACTGGTGGCGCAGTGAGCGAGCTGGTGCCATGGTCGGTGGGTGTGGGCCACGTGGTGGCAAAGGTGCGCGCGGT
GGATGCTGACTCSGGCTACAACGCGTGGCTTTCGTACGAGCTGCAGCCGGGGACTGGTGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACTGGCGAG
ATCAGCACAACGCGTGCCCTGGACGAAACGGACGCTCCGCGCCACCGCCTACTGGTACTGGTGAAGGACCACGGCGAGCCCGCGCTGACGGCCACGGCCA
CTGTGCTGGTGTCACTTGTGGAGAGTGGACAGGCGCCAAAGGCCTCCTCACGGGCGTTGGTGGGCGCTGTGGGTCCCGATGCTGCGCTGGTGGATGTCAA
CGTATACCTGATCATTGCCATCTGCGCGGTGTCCAGCCTTTTGGTGCTCACGCTGCTGCTGTACACCGCGCTGCGGTGCTCTGCGCTGCCCACCGAGGGC
GCGTGCGCTCCGGGCAAGCCCACGCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCC
CACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAGCCACG
ACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGA
GGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCT
GGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCG
GCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAG
ACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATG
GCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCT
AGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCC
AAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGAC
ACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTG
GCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTT
AAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAG
TCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGA
TCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCA
AAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGA
AATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCC
TGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCT
CTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGA
AAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTC
CTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTG
AAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCC
TTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGA
TACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGT
AACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCT
AATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGA
TTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTA
GCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGT
AGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAA
TGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCA
TTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:926):
MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHRGLLEVNLQNGILFVNSRIDREELCRRSA
ECSIHLEVIVDRPLQVFHVDVEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFSLEKPPDDELVKGLGLILRKSL
DREEAPEIFLVLTATDGGKPELTGTVQLLITVLDANDNAPAFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITG
QIIVKGYIDFEESKSYEIIVEGIDKGQLPLSGHCRVIVEVEDNNDNVPDLEFKSLSLPIREDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAWDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRALVGAVGPDAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAKPRQPN
PDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEP
TNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4543):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5249
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:926, None   



Context             (SEQ ID NO:4544):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4354
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:926, None   



Context             (SEQ ID NO:4545):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2758
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:926, 883, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4546):
CTCGGGCGGGTGGCACTGGTGGCGCAGTGAGCGAGCTGGTGCCATGGTCGGTGGGTGTGGGCCACGTGGTGGCAAAGGTGCGCGCGGTGGATGCTGACTC
S
GGCTACAACGCGTGGCTTTCGTACGAGCTGCAGCCGGGGACTGGTGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACTGGCGAGATCAGCACAACGC
Celera SNP ID:            hCV26311966
SNP Position Transcript:  1913
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:926, 601, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:4547):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4907
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:926, None   



Context             (SEQ ID NO:4548):
TGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGACCGCTCGCGATGCCGGCGTGCC
R
CCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAGCACTGCTAGCGCCTCGGGCGGGTGGCACTGGTGGCGCAG
Celera SNP ID:            hCV26311967
SNP Position Transcript:  1739
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:926, 543, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4549):
TGTCGAGCTACGTTTCGGTGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGACCGC
K
CGCGATGCCGGCGTGCCACCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAGCACTGCTAGCGCCTCGGGCGG
Celera SNP ID:            hCV26311968
SNP Position Transcript:  1721
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:926, 537, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:4550):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2968
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:926, None   



Context             (SEQ ID NO:4551):
TGGTCACCTGCTCCTTGACGTCCCACGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAG
Y
GTGTCAGCCTATGAGCTGGTGGTGACCGCGCGAGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGTGTTTCTGTGGAGGTGGCTGATGTGAACGACA
Celera SNP ID:            hCV29063405
SNP Position Transcript:  1361
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:926, 417, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4552):
TCGGTTTCCACTAGAGGGCGCCTCGGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCAAATGAATACTTTTCTCTGGAAAAACCA
Y
CTGATGACGAGCTGGTAAAAGGTCTTGGGCTTATATTACGGAAATCTTTAGACAGAGAAGAAGCTCCGGAGATTTTTTTAGTGCTCACAGCCACTGATGG
Celera SNP ID:            hCV27506173
SNP Position Transcript:  660
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:926, 184, (P,CCT)   (S,TCT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348257 - 30000034447274
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913508 - 206000045673941
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35037644..35040150)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:230):
TGACTGTGATGCTGGAAAAAATTTACTAAATATGTACTTACAGAAAAGGGTGAYTGCTCATAAAATACCTCAGGCAAGCGATCCCTTAAAACTGATTGTC
CCAACTCAGAGGCCCTCATTTTCTGCAATGGTGATTATCGGACCAAGAGGCCCGGGATCCCAGCGTCTGCTGCTCTCGCTTCTGCTCCTTGCAGCCTGGG
AGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTACGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAGCTGGCGGA
GCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACSGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGAC
CGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCACCTGGAGGTGAYCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGG
ACATTAACGACAACCCGCCGGTGTTCAGAGAAAGGGAACAAAAGGTACCTGTTTCTGAATCTGCGCCTCTGGACTCTCATTTTCCTCTAGAGGGCGCTTC
TGATGCGGATATCGGCGTAAACTCTCTTTTGACCTATGCGTTAAGTCTAAATGAGAATTTTGAGCTTAAAATAAAAACAAAAAAAGATAAAAGTATATTG
CCTGAATTAGTTCTTCGGAAGTTATTGGACAGAGAGCAAACGCCAAAACTCAATTTATTGCTGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGT
STGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCCMAGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGA
CACAAGAGTGATCCAACTAAATGCTTCCGATCCAGACGAAGGACTTAATGGAGAAATTTCCTATGGGATCAAAATGATTTTGCCAGTGAGTGAGAAATGT
ATGTTTTCAATAAATCCAGACACAGGTGAAATTAGAATTTATGGTGAACTGGATTTTGAAGAGAATAATGCCTATGAAATTCAGGTTAACGCCATTGATA
AAGGGATTCCTTCCATGGCAGGTCACAGCATGGTCCTGGTGGAAGTTCTGGACGTGAATGACAATGTCCCTGAAGTAATGGTTACTTCACTGTCGCTCCC
TGTGCAAGAGGATGCTCAGGTGGGTACCGTCATTGCCCTGATTAGCGTGTCGGATCGTGACTCTGGAGCCAATGGACAGGTCATCTGCTCACTGACACCT
CATGTTCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGG
TGACTGCGCGGGATGGGGGYTCGCCTTCGCTGTGGGCCACGGCTAGAGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCTGCGTTCGCGCAGCC
CGAGTACACAGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCGGCATGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCC
TACTCGCTGGTGGAGCGGCGGGTGGGCGAGCACGCACTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTAGACC
ACGAGGAGCTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCCGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGA
GAACGACAACGCGCCGGCACTGCTGGCGACTCCGGCTGGCAGCGCAGGAGGCGCAGTTAGCGAGTTGGTACCGCGGTCGGTGGGTGCGGGCCACGTGGTG
GCGAAAGTGCGCGCGGTGGACGCTGACTCCGGCTATAACGCTTGGCTGTCCTACGAGTTGCAACCGGCGGCGGTCGGCGCGCACATCCCGTTCCACGTGG
GGCTGTACACTGGCGAGATCAGCACGACACGCATCCTGGATGAGGCGGACGCTCCGCGCCACCGCCTGCTGGTGCTGGTGAAGGACCACGGTGAGCCCGC
GCTGACGTCCACGGCCACGGTGCTGGTGTCGCTGGTGGAGAACGGCCAGGCCCCAAAGACGTCGTCGCGGGCCTCAGTGGGCGCTGTGGATCCCGAAGCG
GCTCTGGTGGATATTAACGTGTACCTCATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAG
CGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCYGYGGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGT
GTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGCTGTCTCGAGAAGATTGTTTAAATCCTCCCAGTGAAGTAAGT
TATTAA

Protein Sequence    (SEQ ID NO:927):
MYLQKRVTAHKIPQASDPLKLIVPTQRPSFSAMVIIGPRGPGSQRLLLSLLLLAAWEVGSGQLHYSVYEEAKHGTFVGRIAQDLGLELAELVPRLFRVAS
KRHGDLLEVNLQNGILFVNSRIDREKLCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFREREQKVPVSESAPLDSHFPLEGASDADIGVNSLL
TYALSLNENFELKIKTKKDKSILPELVLRKLLDREQTPKLNLLLMVIDGGKPELTGSVQIQITVLDVNDNGPAFDKPSYKVVLSENVQNDTRVIQLNASD
PDEGLNGEISYGIKMILPVSEKCMFSINPDTGEIRIYGELDFEENNAYEIQVNAIDKGIPSMAGHSMVLVEVLDVNDNVPEVMVTSLSLPVQEDAQVGTV
IALISVSDRDSGANGQVICSLTPHVPFKLVSTYKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENN
PPGCHIFTVSAWDADAQKNALVSYSLVERRVGEHALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAT
PAGSAGGAVSELVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAVGAHIPFHVGLYTGEISTTRILDEADAPRHRLLVLVKDHGEPALTSTATVLVS
LVENGQAPKTSSRASVGAVDPEAALVDINVYLIIAICAVSSLLVLTLLLYTALRCSAPPTVSRCAPGKPTLVCSSAVGSWSYSQQRRQRVCSAESPPKTD
LMAFSPSLQLSREDCLNPPSEVSY


SNP Information

Context             (SEQ ID NO:4553):
GGCCAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACAC
S
GGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCA
Celera SNP ID:            hCV25959705
SNP Position Transcript:  341
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:927, 104, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:4554):
GAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCACCTGGAGGTGA
Y
CGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCGCCGGTGTTCAGAGAAAGGGAACAAAAGGTACCTGTT
Celera SNP ID:            hCV25964947
SNP Position Transcript:  453
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:927, 141, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:4555):
TGACTGTGATGCTGGAAAAAATTTACTAAATATGTACTTACAGAAAAGGGTGA
Y
TGCTCATAAAATACCTCAGGCAAGCGATCCCTTAAAACTGATTGTCCCAACTCAGAGGCCCTCATTTTCTGCAATGGTGATTATCGGACCAAGAGGCCCG
Celera SNP ID:            hCV25961191
SNP Position Transcript:  54
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:927, 8, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:4556):
TGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGGTGACTGCGCGGGATGGGGG
Y
TCGCCTTCGCTGTGGGCCACGGCTAGAGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTGTTCGTGA
Celera SNP ID:            hCV25991961
SNP Position Transcript:  1420
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,24)   total(C,53|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:927, 463, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:4557):
TGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGTCTGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCC
M
AGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGACACAAGAGTGATCCAACTAAATGCTTCCGATCCAGACGAAGGACTTAATGGAGAAATTTCCT
Celera SNP ID:            hCV8940094
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,20)   caucasian(A,25|C,15)   total(A,37|C,35)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:927, 277, (P,CCA)   (P,CCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,23|C,15)   total(A,37|C,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:927, 277, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|C,6)      total(A,6|C,6) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:927, 277, (P,CCA)   (P,CCC)      277, (P,CCC)   (P,CCA)      



Context             (SEQ ID NO:4558):
TGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAGCGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGC
Y
GTGGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGC
Celera SNP ID:            hCV26000223
SNP Position Transcript:  2359
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:927, 776, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:4559):
CCTGAATTAGTTCTTCGGAAGTTATTGGACAGAGAGCAAACGCCAAAACTCAATTTATTGCTGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGT
S
TGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCCCAGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGAC
Celera SNP ID:            hCV25995495
SNP Position Transcript:  801
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,38)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:927, 257, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:4560):
GTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAGCGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCCG
Y
GGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGCTG
Celera SNP ID:            hCV25973603
SNP Position Transcript:  2361
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(T,40)   total(C,2|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:927, 777, (A,GCG)   (V,GTG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348258 - 30000034447266
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913507 - 206000045673940
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35030800..35033362)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:231):
AAAATATAGCAGAAAGCGGAATACCTCTTGCGAATCCTTCCGCACTAGGAAGCCATAAAAATTGGGCCTTGAGAGACAGTTTGAGGTAAGGCGTTGTATA
TATTGCAGATAGCTCTGAGGTTTTTGGAGTGTACCATGCTGTCTTCCTGGCAAGGAGGCCCAAGACCGCGGCAACTACTGCTCTGGCTTCTGATCCTCGC
AGCCTGGGAGACGGGTAGTGGCCAGCTCCACTACTCCGTCCCCGAGGAAGCAAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAG
CTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTC
GGATCGACCGCGAGGAGCTGTGTGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCTCTGCAGGTTTTCCATGTGGAGGTGAA
GGTGAGGGACATTAACGACAACCCGCCCATATTCCCTGAAAGCAAGAAACGAATAATCATTGCAGAATCTAGACCTCCGGAAACTCGATTTCCACTAGAT
GGCGCATCCGATGCAGATATTGGAGTAAACTCGGCATTWACCTACCGACTGGATCCCAACGATTATTTCACTTTGGACGCACAAAACAGTCTTGAGCAAA
TGTCTTCATTATCACTTGTACTGAGGAAAACACTGGACAGAGAGGAAATTCAGGAACATAGTTTATTACTGACAGCCAGTGATGGAGGTAAACCCGAGCT
GACTGGCACAGTTCAGCTGCTCATCACGATTCTGGACGTGAATGACAACGCCCCGGAATTTTACCAATCCGTTTATAAAGTGACGGTGTTAGAGAACGCC
TTCAATGGAACATTAGTGATCAAGCTAAATGCCACAGATCCTGATGATGGTACAAATGGAGATATAGTTTACTCATTTAGAAGGCCTGTATGGCCTGCAG
TGGTATATGCATTTACCATAAATCCGAACAATGGAGAAATTAGGACAAAAGGCAAACTAGATTTCGAAGAAAAGAAATTATATGAAATATCCGTGGAMGC
AGTTGACAAAGGAAATATTCCAATGGCGGGTCATTGTACCCTTTTGGTGGAAGTACTAGATGTAAATGATAACGCCCCAGAGGTTACCATCACTTCTTTG
TCACTCCCCATCAGAGAAGACACTCAGCCTAGCGCCATTATTGCCCTAATCAGTGTGTCCGATCGTGACTCTGGCTCAAATGGACAGGTCACCTGCACCT
TGACGCCGCATGTCCCCTTCAAGCTGGTGTCCACCTACAAGAACTACTACTCATTAGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTATCAGCCTATGA
ACTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCKCTGTGGGCCACGGCCAGCGTGTCGGTGGGGGTGGCCGACGTGAACGACAACGCGCCGGCGTTC
GCGCAGCCCGAGTACACGGTGTTCGTGAAGGAAAACAATCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCAGGACGCGGACGCACAGGAGAACGCGC
TGGTCTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGTGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCC
GTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGAKTCTGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTG
CTGGACGAGAACGACAACGCTCCGGCGCTGCTGACGCCCGGGGCTGGCAGCGCGGGAGGCACAGTGAGCGAGCTGATGCCGCGGTCGGTGGGTGCAGGCC
ACGTGGTGGCGAAGGTGCGCGCGGTGGACGCCGATTCGGGCTACAATGCGTGGCTTTCGTATGAATTGCAGCTGGCGGCGGTCGGCGCGCGCATCCCGTT
CCGCGTGGGGCTGTACACTGGCGAGATCAGCACGACGCGCCCTCTGGACGAGGTGGACGCGCCGCACCACCGCCTTCTGGTGCTGGTGAAGGACCACGGT
GAGCCCGCGCTGACGGCCACGGCAACGGTGCTGTTGTCGCTGGTGGAGAGCGGCCAAGCGCCACAGGCTTCGTCGAGGGCGTCGGCAGGCGCTGTGGGTC
CAGAAGCGGCGCTGGTGGATGTCAATGTTTACTTGATSATTGCCATCTGCGCGGTGTCCAGCCTGTTGGTGCTCACGTTGCTGCTGTATACTGCGCTGCG
GTGCTCGGCACCGCCCACCGAGGGCGCGTGCGCGCCGGGCAAGCCCACTCTAGTGTGCTCCAGCGCGGCAGGGAGTTGGTCGTACTCGCAGCAGAGGCGG
CCGAGGGTGTGCTCTGGGGAGGGCCCGCATAAGACGGACCTCATGGCCTTCAGTCCCAGCCTTCCTCCTTGTCTGGGTTCTGCAGAGGGAACAGGCCAGA
GGGAGGAGGACTCAGAATGCTTGAAAGAGGTAAGCTTATATTTTAAAAAATTGTCTTAGTAA

Protein Sequence    (SEQ ID NO:928):
MLSSWQGGPRPRQLLLWLLILAAWETGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVKVRDINDNPPIFPESKKRIIIAESRPPETRFPLDGASDADIGVNSALTYRLDPNDYFTLDAQNSLEQMSSLSLVLRKTL
DREEIQEHSLLLTASDGGKPELTGTVQLLITILDVNDNAPEFYQSVYKVTVLENAFNGTLVIKLNATDPDDGTNGDIVYSFRRPVWPAVVYAFTINPNNG
EIRTKGKLDFEEKKLYEISVEAVDKGNIPMAGHCTLLVEVLDVNDNAPEVTITSLSLPIREDTQPSAIIALISVSDRDSGSNGQVTCTLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVGVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAQDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDSGVPPLGSNVTLQVFVLDENDNAPALLTPGAGSAGGTVSELMPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQLAAVGARIPFRVGLYTGEISTTRPLDEVDAPHHRLLVLVKDHGEPALTATATVLLSLVESGQAPQASSRASAGAVGPEAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSAPPTEGACAPGKPTLVCSSAAGSWSYSQQRRPRVCSGEGPHKTDLMAFSPSLPPCLGSAEGTGQREEDSECLKEVS
LYFKKLS


SNP Information

Context             (SEQ ID NO:4561):
GCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGA
K
TCTGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCGGCGCTGCTGACGCCCGGGGCTGGCAGCG
Celera SNP ID:            hCV25973638
SNP Position Transcript:  1752
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,5)   caucasian(G,2|T,2)   total(G,11|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:928, 584, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4562):
CAGTGGTATATGCATTTACCATAAATCCGAACAATGGAGAAATTAGGACAAAAGGCAAACTAGATTTCGAAGAAAAGAAATTATATGAAATATCCGTGGA
M
GCAGTTGACAAAGGAAATATTCCAATGGCGGGTCATTGTACCCTTTTGGTGGAAGTACTAGATGTAAATGATAACGCCCCAGAGGTTACCATCACTTCTT
Celera SNP ID:            hCV25970086
SNP Position Transcript:  1098
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,31)   caucasian(C,24)   total(A,1|C,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:928, 366, (R,AGA)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,29)   caucasian(C,26)   total(A,1|C,55)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:928, 366, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4563):
AAAGCAAGAAACGAATAATCATTGCAGAATCTAGACCTCCGGAAACTCGATTTCCACTAGATGGCGCATCCGATGCAGATATTGGAGTAAACTCGGCATT
W
ACCTACCGACTGGATCCCAACGATTATTTCACTTTGGACGCACAAAACAGTCTTGAGCAAATGTCTTCATTATCACTTGTACTGAGGAAAACACTGGACA
Celera SNP ID:            hCV11840421
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,3)   caucasian(A,32|T,6)   total(A,65|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:928, 213, (T,ACA)   (T,ACT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,8)   total(A,8|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:928, 213, (T,ACA)   (T,ACT)      



Context             (SEQ ID NO:4564):
ACAAGAACTACTACTCATTAGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTATCAGCCTATGAACTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTC
K
CTGTGGGCCACGGCCAGCGTGTCGGTGGGGGTGGCCGACGTGAACGACAACGCGCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAAAACA
Celera SNP ID:            hCV3163213
SNP Position Transcript:  1437
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|T,5)      total(G,4|T,5) ;no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:928, 479, (A,GCG)   (A,GCT)      479, (A,GCT)   (A,GCG)      



Context             (SEQ ID NO:4565):
CGCTGGTGGAGAGCGGCCAAGCGCCACAGGCTTCGTCGAGGGCGTCGGCAGGCGCTGTGGGTCCAGAAGCGGCGCTGGTGGATGTCAATGTTTACTTGAT
S
ATTGCCATCTGCGCGGTGTCCAGCCTGTTGGTGCTCACGTTGCTGCTGTATACTGCGCTGCGGTGCTCGGCACCGCCCACCGAGGGCGCGTGCGCGCCGG
Celera SNP ID:            hCV25972769
SNP Position Transcript:  2238
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,40)   total(C,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:928, 746, (G,GGC)   (G,GGG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348264 - 30000034447453
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913514 - 206000045673899
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35105944..35108451)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:232):
TTTGGAGTCTGAAATATGGAGGATGCAGCTGCACTTGACTGACCGATTAAAAGATTTCCCTTGACTTTGAGAAACGATATTTAATCAGAACAAAATACTG
TGCACTAAAGATGGAGTTTTCCTGGGGAAGCGGCCAGGAATCCCGGCGTCTGCTGCTCTTACTTCTTCTCCTCGCAGCCTGGGAGGCAGGGAACGGTCAG
CTCCACTACTCGGTCTCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGACTGGAGCTGGCGGAGCTGGTGCCGCGCCTGT
TCCGGGTGGCGTCCAAAAGGCACCGGGGCCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCCG
GCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAACGATAACCCG
CCGGTGTTCCCAGCAACACAAAAGAACCTGTCCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCCTCGGATGCAGATATCGGGG
AGAACGCCCTGCTCACTTACAGACTGAGCCCAAATGAATACTTTTCTCTGYAAAAACCACCTGATGACGAGCTGGTAAAAGGTCTTGGGCTTATATTACG
GAAATCTTTAGACAGAGAAGAAGCTCCGGAGATTTTTTTAGTGCTCACAGCCACTGATGGAGGCAAACCCGAGTTGACTGGCACCGTTCAGTTACTCATC
ACAGTACTGGATGCCAATGACAATGCCCCAGCTTTTGACAGAACCATTTATAAGGTGAGATTACTAGAAAATGTTCCTAATGGAACATTGGTAATTAAAC
TTAACGCCTCAGATTTAGACGAAGGATTGAATGGGGACATTGTTTATTCATTCTCAAATGATATTTCGCCAAATGTGAAATCCAAGTTTCACATAGATCC
AATTACTGGACAAATTATTGTAAAGGGATATATTGACTTTGAAGAAAGCAAATCCTATGAAATTATTGTAGAGGGCATTGATAAGGGACAGCTCCCACTT
TCTGGCCATTGTAGAGTTATTGTGGAAGTAGAAGACAACAACGATAATGTCCCAGATTTGGAATTCAAGTCTTTATCACTTCCAATTAGAGAGGACGCTC
CACTGGGTACAGTCATCGCCCTGATCAGCGTGTCCGACAAAGACATGGGTGTCAATGGGCTGGTCACCTGCTCCTTGACGTCCCACGTCCCCTTCAAGCT
GGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGAYCGCGAGAGCGTGTCAGCCTATGAGCTGGTGGTGACCGCGCGAGACGGG
GGCTCGCCTTCGCTGTGGGCCACGGCCAGTGTTTCTGTGGAGGTGGCTGATGTGAACGACAACGCTCCGGCGTTCGCGCAGCCCGAGTACACAGTGTTCG
TGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCTGCGTGGGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTAGAGCG
GCGGGTAGGGGAGCGCGCGCTGTCGAGCTACGTTTCGGTGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTG
CTGCAGTTTCAKGTGACCGCTCGCGATGCRGGCGTGCCACCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAG
CACTGCTAGCGCCTCGGGCGGGTGGCACTGGTGGCGCAGTGAGCGAGCTGGTGCCATGGTCGGTGGGTGTGGGCCACGTGGTGGCAAAGGTGCGCGCGGT
GGASGCTGACTCCGGCTACAACGCGTGGCTTTCGTACGAGCTGCAGCCGGGGACTGGTGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACTGGCGAG
ATCAGCACAACGCGTGCCCTGGACGAAACGGACGCTCCGCGCCACCGCCTACTGGTACTGGTGAAGGACCACGGCGAGCCCGCGCTGACGGCCACGGCCA
CTGTGCTGGTGTCACTTGTGGAGAGTGGACAGGCGCCAAAGGCCTCCTCACGGGCGTTGGTGGGCGCTGTGGGTCCCGATGCTGCGCTGGTGGATGTCAA
CGTATACCTGATCATTGCCATCTGCGCGGTGTCCAGCCTTTTGGTGCTCACGCTGCTGCTGTACACCGCGCTGCGGTGCTCTGCGCTGCCCACCGAGGGC
GCGTGCGCTCCGGGCAAGCCCACGCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCC
CACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAGGTTAG
TGTATAA

Protein Sequence    (SEQ ID NO:929):
MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHRGLLEVNLQNGILFVNSRIDREELCRRSA
ECSIHLEVIVDRPLQVFHVDVEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFSLEKPPDDELVKGLGLILRKSL
DREEAPEIFLVLTATDGGKPELTGTVQLLITVLDANDNAPAFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITG
QIIVKGYIDFEESKSYEIIVEGIDKGQLPLSGHCRVIVEVEDNNDNVPDLEFKSLSLPIREDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAWDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRALVGAVGPDAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAKVSV


SNP Information

Context             (SEQ ID NO:4566):
TCAATGGGCTGGTCACCTGCTCCTTGACGTCCCACGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGA
Y
CGCGAGAGCGTGTCAGCCTATGAGCTGGTGGTGACCGCGCGAGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGTGTTTCTGTGGAGGTGGCTGATG
Celera SNP ID:            hCV29063405
SNP Position Transcript:  1352
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:929, 417, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4567):
TGCTAGCGCCTCGGGCGGGTGGCACTGGTGGCGCAGTGAGCGAGCTGGTGCCATGGTCGGTGGGTGTGGGCCACGTGGTGGCAAAGGTGCGCGCGGTGGA
S
GCTGACTCCGGCTACAACGCGTGGCTTTCGTACGAGCTGCAGCCGGGGACTGGTGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACTGGCGAGATCA
Celera SNP ID:            hCV26311966
SNP Position Transcript:  1904
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:929, 601, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:4568):
ACGTTTCGGTGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGACCGCTCGCGATGC
R
GGCGTGCCACCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAGCACTGCTAGCGCCTCGGGCGGGTGGCACTG
Celera SNP ID:            hCV26311967
SNP Position Transcript:  1730
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:929, 543, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4569):
GCTTGACTCTCGGTTTCCACTAGAGGGCGCCTCGGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCAAATGAATACTTTTCTCTG
Y
AAAAACCACCTGATGACGAGCTGGTAAAAGGTCTTGGGCTTATATTACGGAAATCTTTAGACAGAGAAGAAGCTCCGGAGATTTTTTTAGTGCTCACAGC
Celera SNP ID:            hCV27506173
SNP Position Transcript:  651
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:929, 184, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:4570):
AGCGCGCGCTGTCGAGCTACGTTTCGGTGCATGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCA
K
GTGACCGCTCGCGATGCCGGCGTGCCACCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAAAACGACAACGCGCCAGCACTGCTAGCGC
Celera SNP ID:            hCV26311968
SNP Position Transcript:  1712
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:929, 537, (A,GCG)   (A,GCT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348259 - 30000034447445
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913506 - 206000045673938
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34985693..34988777)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:233):
CAATGCCGGCGTTCGGGAGGCGCAACGTCGGCGGTCGCTGAGTATCCAGCCCGCAGCAGTGACGGCCGGCAGGAGCGTGCTCTTCCCCGCGGCTCGTGCT
CTCCAGGAGTCCGGAGCATGGTCCTGGGTCACCGTTGGTGTAGCGTGTTGGTGGAACGTGGACGCCTAGAGGGAGGATGGTGGGCTGTGGGGTGGCAGTT
TTATGTTTGTGGGTTTCCTGCGGCGCTGCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGG
ACTTGAGGMTGCCAGCGGCCGCTATGTYCTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTT
GGTGGTCAGAGAGCCGGCGGACCGCGAACAGCTGTGCAGGGCCAAAGCTGCCTGCGTCTTGACCTACGACCTGGTGCTCGAGGACCCGCTGGAGCTGCAC
AAGATTCGGATTCACGTCCTGGACACCAATGACAACTCACCTCTCTTTCCTGCCGGCGACGTGCAGCTGCACATCCCCGAGTTCCTGACGCCCGGAGCCC
GYTTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATC
RCGGGTTGACGGCAGCGAATACCCGGAGTTGGTGTTGGAGAAAGCACTGGATCGCGAACAGCGCGCCACCCACCTGCTGGTGCTTACAGCTCGGGACGGC
GGGCTACCTGCCCGCTCAGGAGACGCACAAGTCACCATCATTGTGGTGGACACAAATGACAACGCGCCTGTATTTGAGCGCTCCGTATACCRCACCAAGG
TTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCARTACTCCCTAAGCAACAG
CACGCAAGCAGAGCTGCGACACCGCTTTCACGTKCACCCTAAAAGTGGGGAGGTKCAAGTAGCTGCTTCACTAGGYCCGCCTGAAACGCTCTTGGAGGCA
TACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGCTGGTGGAGGTGACTGACGTGAACGATCATGCCCCCGAACTGGACT
TCCTGACTCTTTCGAACCCAGTACCTGAGGACGCTGCCCCTGGCACAGTGATTGCTCTCTTTAGTGTAAAGGATGAAGACCTCGATTCTAATGGTAGGGT
CATTTGTGGCATGTCTAGTGCAGGCCCTTTTCAGCTGACGGCTTCCTTTGACAACTACTACAGCCTGCTGATTGATGGGCCCCTGGACCGGGAGCAGATC
AGTGAATACCAAGTCCTGATCACGGCCTCAGATAGTGGCTCACCSCCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATA
CACCAAACTTTCCTCAACCCCRGCAGGAACTTTTCGTTGCTGAAAACAATGGCCCTGGGGCCTCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGG
GAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTARCTTGSTGGCAGTGGAATCATCCAGTGGGGCCATCACT
GCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGATGGTGGCATTCCTCCCAGAAGTGCAACAGTGACTATAA
ACTTGTTTGTGGTAGATAGGAATGACAATTATCCGGTTATCTTGTTTCCCTTGCCCAGAAATGGTTCTGTCCCAGTGGAAATTGTGCCCCGCTCTGCCAG
GACTGGACACTTGGTCACAAAAGTGGTAGCAGAGGATGCTGACAGTGGTTCTAATGCCTGGCTTTCCTACCACATCTCCCGGGCGTCTGACTCTAGTCTC
TTTAGAATTTCAGCCAATATAGGTGAGCTCCGTACTGCTCGCTTAGTTCTTCCCACTGATGCAGTTAAGCAGAGGGTGGTGGTAGTGGTTCGGGACCATG
GAGACCCACCACTTTCCTCCTCTGTCACTCTGGGTGTGCTGTTGAGCAACTCTGTCCCTCAGTTACTTCCAGACTTTGAAGATGTCTGGGAACCAGGAGG
GCAGCTTTCTGCCCAGAACTTGTATTTAGTAATTGCCTTGGCTTGTATTTCCTTTTTATTTCTGGGGTGCTTACTTTTCTTCGTGTGTACCAAGTTGCAC
CAGAGCCCAGGCTGTTGCKCTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATCYTTGCATGACATCAGCCACCA
TAGATGTCACTACAGTTGAGAGACTTTCTCAGACTTATCTCTATCGGGCCTCTCTGGGACTTGGTTCTGATAATAACAGTTTGCTGTTGCGTGGGGAGTA
CAATGCTGCCGACCTGCGAAATCTTGCCACTGGGGTAGGACTGAATTTGCCAATATCCTGTATTCAGATTCGGAATAGGAAAGGGGATCACGCTAATGTC
AATGCCATGGTAAGCAAATTTTATGGAATTTGATTCCTTTGGCCCGGAGATGGCTGCTAGCTGTGTTTTGAAATATTTCTTAGACAAGCCTTTCACAACA
TTTCATCAATTGAAYTAAACACTCCTTCTTAGCACTTCCTGTGCCAAGAAATCTGGAAGTATAGAAGTATTAGAAGATTGCCCTAGGCCTCAAGGGACTT
ATAGTTTATTTTTGAGAAACAARGGCAAAAATTAAAACCTATTTAAGAACAATAAAAGTAATATGACATAAAGGTCTAAAATTAAAAATAAAATACCAAA
ATATTTTATAAGCAACAGATGTGTAAGGCACTCTAATATTTAAAGTGAAGAATGAAAAATATGTAAGAGTCTGCTTTATATGAATATAATATGGAAGGTG
AAACATTTACTTAAACTATTGCAATGCATTATTAAAAGATGACGATAACCACAAAAGATGTAAAAATAAATTACAATGGGGGTT

Protein Sequence    (SEQ ID NO:930):
MVGCGVAVLCLWVSCGAAAGQLEYSVPEETERGVAVGNLSADLRLPAAAMSSRNFRFLSSHRELYFGVDLPSGNLVVREPADREQLCRAKAACVLTYDLV
LEDPLELHKIRIHVLDTNDNSPLFPAGDVQLHIPEFLTPGARFTLPNAQDDDEGSNGILSYSLSPSQHFRLDMGSRVDGSEYPELVLEKALDREQRATHL
LVLTARDGGLPARSGDAQVTIIVVDTNDNAPVFERSVYRTKVPETAPNGTVLFRVQALDPDEGSNGEVQYSLSNSTQAELRHRFHVHPKSGEVQVAASLG
PPETLLEAYIEARDEGVFGLASTAKLLVEVTDVNDHAPELDFLTLSNPVPEDAAPGTVIALFSVKDEDLDSNGRVICGMSSAGPFQLTASFDNYYSLLID
GPLDREQISEYQVLITASDSGSPPLSTRRTITVSVADVNDNTPNFPQPQQELFVAENNGPGASLGRVFAQDPDLGKNGLVSYELLDVISEGPSASSLVAV
ESSSGAITAKTSFDFEQLRGFHFQVEGRDGGIPPRSATVTINLFVVDRNDNYPVILFPLPRNGSVPVEIVPRSARTGHLVTKVVAEDADSGSNAWLSYHI
SRASDSSLFRISANIGELRTARLVLPTDAVKQRVVVVVRDHGDPPLSSSVTLGVLLSNSVPQLLPDFEDVWEPGGQLSAQNLYLVIALACISFLFLGCLL
FFVCTKLHQSPGCCAQSCCRSTEDLRYGSKMVSNPCMTSATIDVTTVERLSQTYLYRASLGLGSDNNSLLLRGEYNAADLRNLATGVGLNLPISCIQIRN
RKGDHANVNAMVSKFYGI


SNP Information

Context             (SEQ ID NO:4571):
TTCGTGTGTACCAAGTTGCACCAGAGCCCAGGCTGTTGCGCTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATC
Y
TTGCATGACATCAGCCACCATAGATGTCACTACAGTTGAGAGACTTTCTCAGACTTATCTCTATCGGGCCTCTCTGGGACTTGGTTCTGATAATAACAGT
Celera SNP ID:            hCV25965522
SNP Position Transcript:  2380
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 735, (P,CCT)   (L,CTT)   



Context             (SEQ ID NO:4572):
TCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTA
R
CTTGGTGGCAGTGGAATCATCCAGTGGGGCCATCACTGCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGAT
Celera SNP ID:            hCV25957245
SNP Position Transcript:  1663
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 496, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:4573):
CTTGTATTTAGTAATTGCCTTGGCTTGTATTTCCTTTTTATTTCTGGGGTGCTTACTTTTCTTCGTGTGTACCAAGTTGCACCAGAGCCCAGGCTGTTGC
K
CTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATCCTTGCATGACATCAGCCACCATAGATGTCACTACAGTTGA
Celera SNP ID:            hCV29063539
SNP Position Transcript:  2319
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 715, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:4574):
GCTTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATC
R
CGGGTTGACGGCAGCGAATACCCGGAGTTGGTGTTGGAGAAAGCACTGGATCGCGAACAGCGCGCCACCCACCTGCTGGTGCTTACAGCTCGGGACGGCG
Celera SNP ID:            hCV25963774
SNP Position Transcript:  701
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 175, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4575):
TCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGT
K
CACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGGTCCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTT
Celera SNP ID:            hCV2417185
SNP Position Transcript:  1034
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 286, (V,GTG)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 286, (V,GTT)   (V,GTG)      286, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:4576):
CAAATTTTATGGAATTTGATTCCTTTGGCCCGGAGATGGCTGCTAGCTGTGTTTTGAAATATTTCTTAGACAAGCCTTTCACAACATTTCATCAATTGAA
Y
TAAACACTCCTTCTTAGCACTTCCTGTGCCAAGAAATCTGGAAGTATAGAAGTATTAGAAGATTGCCCTAGGCCTCAAGGGACTTATAGTTTATTTTTGA
Celera SNP ID:            hCV2417186
SNP Position Transcript:  2715
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:930, None   



Context             (SEQ ID NO:4577):
CGGGACGGCGGGCTACCTGCCCGCTCAGGAGACGCACAAGTCACCATCATTGTGGTGGACACAAATGACAACGCGCCTGTATTTGAGCGCTCCGTATACC
R
CACCAAGGTTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTA
Celera SNP ID:            hCV25966809
SNP Position Transcript:  892
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 239, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:4578):
ACGGCCTCAGATAGTGGCTCACCCCCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATACACCAAACTTTCCTCAACCCC
R
GCAGGAACTTTTCGTTGCTGAAAACAATGGCCCTGGGGCCTCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTAT
Celera SNP ID:            hCV25969442
SNP Position Transcript:  1522
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 449, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:4579):
CCGTATACCGCACCAAGGTTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCA
R
TACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGGTCCGCCTG
Celera SNP ID:            hCV3297571
SNP Position Transcript:  983
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,8)   caucasian(A,15|G,23)   total(A,41|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 269, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,7)      total(G,4|A,7) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 269, (Q,CAA)   (Q,CAG)      269, (Q,CAG)   (Q,CAA)      



Context             (SEQ ID NO:4580):
AAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGG
Y
CCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGCTGGTGGAGGTGACTGACGTGA
Celera SNP ID:            hCV3297572
SNP Position Transcript:  1076
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,10)   total(C,1|T,10) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 300, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:4581):
CCTTTGACAACTACTACAGCCTGCTGATTGATGGGCCCCTGGACCGGGAGCAGATCAGTGAATACCAAGTCCTGATCACGGCCTCAGATAGTGGCTCACC
S
CCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATACACCAAACTTTCCTCAACCCCAGCAGGAACTTTTCGTTGCTGAAA
Celera SNP ID:            hCV3297573
SNP Position Transcript:  1445
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,9)   caucasian(C,31|G,7)   total(C,56|G,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 423, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|C,5)      total(G,4|C,5) ;no_pop(C,-|G,-)   JBIC-allele(G,744|C,747)   total(G,744|C,747)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 423, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:4582):
AGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTAGCTTG
S
TGGCAGTGGAATCATCCAGTGGGGCCATCACTGCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGATGGTGG
Celera SNP ID:            hCV3297574
SNP Position Transcript:  1668
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,27)   caucasian(C,21|G,17)   total(C,28|G,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 498, (L,CTG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|G,7)      total(G,7|C,5) ;no_pop(C,-|G,-)   JBIC-allele(C,659|G,822)   total(G,822|C,659)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 498, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:4583):
GCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGGACTTGAGGCTGCCAGCGGCCGCTATGT
Y
CTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTTGGTGGTCAGAGAGCCGGCGGACCGCGAA
Celera SNP ID:            hCV25958669
SNP Position Transcript:  328
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 51, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:4584):
GTGGGTTTCCTGCGGCGCTGCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGGACTTGAGG
M
TGCCAGCGGCCGCTATGTCCTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTTGGTGGTCAG
Celera SNP ID:            hCV25993669
SNP Position Transcript:  309
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,33)   caucasian(C,36)   total(A,1|C,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:930, 45, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:4585):
TCCTTCTTAGCACTTCCTGTGCCAAGAAATCTGGAAGTATAGAAGTATTAGAAGATTGCCCTAGGCCTCAAGGGACTTATAGTTTATTTTTGAGAAACAA
R
GGCAAAAATTAAAACCTATTTAAGAACAATAAAAGTAATATGACATAAAGGTCTAAAATTAAAAATAAAATACCAAAATATTTTATAAGCAACAGATGTG
Celera SNP ID:            hCV3297575
SNP Position Transcript:  2823
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,4)      total(G,4|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:930, None   



Context             (SEQ ID NO:4586):
CAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGT
K
CAAGTAGCTGCTTCACTAGGTCCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGC
Celera SNP ID:            hCV25967944
SNP Position Transcript:  1055
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 293, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4587):
AGATTCGGATTCACGTCCTGGACACCAATGACAACTCACCTCTCTTTCCTGCCGGCGACGTGCAGCTGCACATCCCCGAGTTCCTGACGCCCGGAGCCCG
Y
TTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATCGC
Celera SNP ID:            hCV25963185
SNP Position Transcript:  602
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:930, 142, (R,CGC)   (R,CGT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348266 - 30000034447267
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913512 - 206000045673894
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35118052..35120888)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:234):
CCAGAGTAAAAAAGGGTAAAAAGGTAATATATTTTAGGGCTTAAAATAGTTATTTTTTTCCAAGATGAAAGCTATGAGTAAACTTAAACCAGAAAATCGA
CTAGTTTTAAATCTACAGAATAAACAGTAGAGCCTTCCTTTTAGCCACATGATGTCGCTGTCCACCATAGAGTGTTCTRTAGGAAGGAAAATACCCAGAG
CCCCTTTGTTACTTCAGAGAAGCGGAGGAATAAGAGAAGCAGCAGGACTTTAACAGAGACTAGAATATTTAAATTTTTGCAAAACATGCTCTTCTAATTT
GATCAAAACATTGAGGATTGGTAATGGCGTCTTCTATCAGAAGGGGCCGAGGGGCCTGGACACGGCTGCTCTCGCTTCTGCTCCTCGCAGCCTGGAAGGT
GGGGAGCGGCCAGCTCCGCTASTCCGTCCCCGAGGAGGCCAAMCACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGAGCTG
GTGCCGCGCCTGTTCCGGGTGGCGTSCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGG
AGGAGCTGTGCGGGCGGAGCGCGGAATGTAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAAGTGGAGGTGAAGGACAT
TAACGACAACCCGCCAATATTTCCAATGACAGTAAAGACTATCCGGTTTCCCGAATCAAGGCTGCTTGATTCTCGGTTTCCTCTAGAGGGAGCATCTGAT
GCAGATATAGGAGTAAATGCTCTTCTCTCCTACAAGCTCAGCTCCAGTGAGTTTTTCTTCCTAGATATACAGGCAAATGATGAACTAAGCGAATCTTTGT
CTCTCGTGCTGGGGAAATCGCTGGACAGAGAGGAAACTGCTGAGGTTAATTTGTTACTGGTGGCTACTGATGGGGGCAAACCTGAGCTCACGGGCACCGT
TCAAATACTTATTAAGGTATTAGATGTAAATGACAATGAACCAACTTTTGCCCAATCAGTTTACAAAGTAAAATTGTTAGAGAATACGGCAAATGGGACC
TTAGTGGTTAAGTTAAACGCTTCTGATGCAGATGAAGGACCGAACAGCGAGATTGTGTATTCACTCGGTAGTGATGTGTCCTCCACTATACAGACTAAGT
TTACCATAGATCCCATCTCAGGGGAAATCAGAACTAAGGGAAAATTAGATTATGAAGAAGCAAAGTCCTACGAGATTCAGGTCACTGCAACTGACAAAGG
AACCCCTTCAATGTCAGGACATTGTAAAATTTCATTAAAACTTGTGGACATCAATGATAACACACCAGAAGTCTCAATAACGTCTCTCTCACTTCCCATC
TCAGAGAACGCTTCCCTGGGCACTGTCATTGCTCTCATCACGGTGTCGGATCGCGACTCTGGTACGAATGGACATGTCACCTGCTCCCRGACGCCCCACG
TCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCAGCCTATGAGCTGGTGGTGAC
CGCACGGGACGGRGGCTCGCCTTCACTGTGGGCCACCACCAGCGTGTCCATCGAGGTGGCCGACGTGAACGACAACGCGCCGGCGTTCGCACAGCCTGAG
TACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCAGCGTGGGATGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACT
CGCTGGTGGAGCGGCGGGTGGGCGAGCGCGCGTTGTCGAGCTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGA
GGAAGTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAAC
GACAACGCGCCGGCACTGTTGGCGCCTAGGGCTGGCACCGCTGCTGGCGCAGTGAGTGAGCTGGTGCCGTGGTCGGTGGGTGCAGGGCACGTGGTGGCGA
AGGTGCGCGCAGTGGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTRCGAGCTTCAGCTGGGTACTGGCAGCGCTCGCATCCCGTTCCGCGTGGGGCT
ATACACGGGTGAGATCAGCACGACACGTGCCCTAGACGAGGCTGACTCCCCTCGACACCGCCTACTCGTGCTGGTGAAGGACCACGGCGAACCAGCGTTG
ACAGCCACGGCCACCGTGTTAGTGTCGTTGGTGGAAAGTGGCCAGGCACCCAAGGCCTCGTCGCGGGCGTGGGTGGGCGCCGCGGGCTCAGAGGCTYCGC
TGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGTTGGTGCTCACGGTGCTGCTGTACACTGCGCTGCGGTGCTCGGTGCC
ACCCACCGAGGGTGCGCGCGCGCCAGGAAAGCCCACGCTGGTGTGCTCCAGCGCCGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGC
TCTGGGGAGGACCCCCCCAAGACGGACCTCATGGCCTTCAGCCCTAGCTTATCTCAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAAT
ACGTAGGAAAGGTGAGTCTTTTACTTTTTCTTGCCAATTCTAAAATTGTTCTTTTTAAAAAATTCTATATGATTTCTACTAGTTATTTAGATTCATAGTT
CTTCATTTATTTTATATCATCCTACCGTGCGATTTT

Protein Sequence    (SEQ ID NO:931):
MASSIRRGRGAWTRLLSLLLLAAWKVGSGQLRYSVPEEAKHGTFVGRIAQDLGLELEELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVEVKDINDNPPIFPMTVKTIRFPESRLLDSRFPLEGASDADIGVNALLSYKLSSSEFFFLDIQANDELSESLSLVLGKSL
DREETAEVNLLLVATDGGKPELTGTVQILIKVLDVNDNEPTFAQSVYKVKLLENTANGTLVVKLNASDADEGPNSEIVYSLGSDVSSTIQTKFTIDPISG
EIRTKGKLDYEEAKSYEIQVTATDKGTPSMSGHCKISLKLVDINDNTPEVSITSLSLPISENASLGTVIALITVSDRDSGTNGHVTCSLTPHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATTSVSIEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAWDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRAGTAAGAVSELVPWSVGAGHVVAKVRAVDAD
SGYNAWLSYELQLGTGSARIPFRVGLYTGEISTTRALDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRAWVGAAGSEATLVDVNVYL
IIAICAVSSLLVLTVLLYTALRCSVPPTEGARAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGPDSAEEKQLSESEYVGKVSLL
LFLANSKIVLFKKFYMISTSYLDS


SNP Information

Context             (SEQ ID NO:4588):
GCAGTGAGTGAGCTGGTGCCGTGGTCGGTGGGTGCAGGGCACGTGGTGGCGAAGGTGCGCGCAGTGGACGCTGACTCAGGCTACAACGCGTGGCTTTCGT
R
CGAGCTTCAGCTGGGTACTGGCAGCGCTCGCATCCCGTTCCGCGTGGGGCTATACACGGGTGAGATCAGCACGACACGTGCCCTAGACGAGGCTGACTCC
Celera SNP ID:            hCV25631175
SNP Position Transcript:  2149
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:931, 681, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4589):
TCACTTCCCATCTCAGAGAACGCTTCCCTGGGCACTGTCATTGCTCTCATCACGGTGTCGGATCGCGACTCTGGTACGAATGGACATGTCACCTGCTCCC
R
GACGCCCCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCAGCCTATGAG
Celera SNP ID:            hCV25631176
SNP Position Transcript:  1489
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,37|G,3)   total(A,73|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:931, 461, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4590):
TGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCAGCCTATGAGCTGGTGGTGACCGCACGGGACGG
R
GGCTCGCCTTCACTGTGGGCCACCACCAGCGTGTCCATCGAGGTGGCCGACGTGAACGACAACGCGCCGGCGTTCGCACAGCCTGAGTACACAGTATTCG
Celera SNP ID:            hCV25631177
SNP Position Transcript:  1613
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 503, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:4591):
GGGGCCGAGGGGCCTGGACACGGCTGCTCTCGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCGCTACTCCGTCCCCGAGGAGGCCAA
M
CACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACC
Celera SNP ID:            hCV29063414
SNP Position Transcript:  443
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 113, (T,ACG)   (P,CCG)      



Context             (SEQ ID NO:4592):
GTTGACAGCCACGGCCACCGTGTTAGTGTCGTTGGTGGAAAGTGGCCAGGCACCCAAGGCCTCGTCGCGGGCGTGGGTGGGCGCCGCGGGCTCAGAGGCT
Y
CGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGTTGGTGCTCACGGTGCTGCTGTACACTGCGCTGCGGTGCTCGGT
Celera SNP ID:            hCV25766501
SNP Position Transcript:  2397
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 764, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 764, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:4593):
GTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGT
S
CAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCGGGCGGAGCGCGGAA
Celera SNP ID:            hCV25631178
SNP Position Transcript:  526
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 140, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:4594):
TAATGGCGTCTTCTATCAGAAGGGGCCGAGGGGCCTGGACACGGCTGCTCTCGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCGCTA
S
TCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGAGCTGGTGCCGCGCCTGTTCCGGGTGG
Celera SNP ID:            hCV25631180
SNP Position Transcript:  422
SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,6)   caucasian(C,13|G,19)   total(C,37|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 106, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,7)   caucasian(C,6|G,14)   total(C,17|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 106, (L,CTG)   (V,GTG)   



Context             (SEQ ID NO:4595):
TAAACTTAAACCAGAAAATCGACTAGTTTTAAATCTACAGAATAAACAGTAGAGCCTTCCTTTTAGCCACATGATGTCGCTGTCCACCATAGAGTGTTCT
R
TAGGAAGGAAAATACCCAGAGCCCCTTTGTTACTTCAGAGAAGCGGAGGAATAAGAGAAGCAGCAGGACTTTAACAGAGACTAGAATATTTAAATTTTTG
Celera SNP ID:            hCV25631179
SNP Position Transcript:  179
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,14)   caucasian(A,17|G,23)   total(A,39|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:931, 25, (K,AAG)   (E,GAG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255406 - 30000034447381
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894655 - 209000073752494
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35114475)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:235):
GCATTACGTATTCAGATACTGCTTTGCTTCATCCTCTCTAAAATTTAACACCGAGGAGTTTAAGAAATGAAGATAAGGAACTCGAATTATTTTTAAAYTT
TGGATCAATGTAAAGGCAATCTAATATTTGGAAAATACTTGCAATGTTGTTCTCCTGGCGAGAAGATCCTGGAGCCCAGTGCCTGCTGCTTTCTCTTCTG
CTCCTCGCAGCCTCGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCTGAGGAGGCCAAGCATGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGG
GGCTGGAGCTGGCGGAGCTGGTGCMGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGT
GAATTCTCGGATAGACCGCGAGGAACTGTGCGGGCGGAGCGCGGAGTGCAGCATYCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTG
GAGGTGGAAGTGAAGGACATTAATGACAACGCGCCAGTTTTTCCAATGGCTGTRAAGAATCTGTTTATTTCCGAATCCCGACAGCCTGGCTCTCGGTTTT
CGCTAGAGGGCGCATCAGATGCAGATATCGGAACAAATTSGTTGTTGACTTACAGTCTTGATTCCACTGAATATTTTACCTTGGACGTTAAAAGAAATGA
TGAGGAAATTAAATCCCTTGGACTCGTGTTGAAAAAAAATTTAAATCGAGAGGACACTCCTAAGCATTATTTACTAATAACAGCAATTGATGGTGGGAAA
CCAGAGCTCACTGGCACGACTCAACTAAAGATCACTGTTTTAGAYGTAAACGACAACGCCCCAGCGTTTGAGAGGACGATCTATAAAGTCAGATTACTCG
AAAATGCACCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCGATTTGGATGAAGGAGTAAATAAGGATATCGCGTATTCTTTCAATACGGACATGTC
AGCAGATAYTCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGTAACATAGATTTCGAGGAAAGTAAGTCATATGAARTCCAG
GTAGAAGCCACGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGTTATTC
AATCRCTATCTTTACCTGTATTAGAAGACTCTCCACTTAGCACAGTCATCGCYCTGATCAGCGTGTCCGACCGCGACTCAGGAGTCAATGGACAGGTCAC
CTGCTCGCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCATTGGTGCTGGACAGCCCTCTGGACCGCGAGAGCGTGTCG
GCCTATGAGCTGGTGGTGACTGCTCGGGACGGGGGCTCGCCTTCACTGTGGGCCACGGCCAKCGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGC
CGGCATTCTCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCGGACGCGCAGGA
GAACGCCCTGGTGTCCTACTCGCTGGTGGAACGGCGGGTGGGGGAGCGCGCGCTGTCGAGCTACGTGTCGGTACACGCGGAGAGCGGCAAGGTGTACGCG
CTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGTGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGG
TGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGATGCCTCGGGTGGGTGGCATCGGTGGCGCAGTGAGCGAGCTGGTGCCGCGGTCAGTGGG
TGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGATGCAGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCTGGGACCGGCGGTGCGCGC
ATCCCGTTTCGCGTGGGGCTGTACACGGGAGAGATCAGCACGACCCGTGCCCTGGACGAGGTGGACGCCCCGCGCCATCGCCTACTGGTGCTGGTGAAGG
ACCACGGTGAACCCTCATTGACCGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGTGGCCAGGCACCCAAGGCCTCKTCCCAGGCGTCCGCTGGCGC
CACGGGCCCGGAAGCTGCACTGGTGGATGTCAACGTGTACTTGATCGTCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTCACACTGCTGCTATATACT
GCTCTGCGGTGCTCCGCGCCGCCAACCGAAGGCGACTGTGGGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGC
AGAGGCAGCAGAGGGTGTRCTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGA
GGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAACCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCT
GTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAG
AAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGM
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
GAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTC
CTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCT
TAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTT
CTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGT
TGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACT
GGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAA
TAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAG
ACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGT
TCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACAC
AATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTAT
TTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTT
AAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCAC
TCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAA
CCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTG
TCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAAT
CAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTG
AACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTT
TGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGA
CTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTA
CCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATA
AGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAA
AAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGG
GTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGA
ACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACT
AGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGT
ATG

Protein Sequence    (SEQ ID NO:932):
MLFSWREDPGAQCLLLSLLLLAASEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVEVKDINDNAPVFPMAVKNLFISESRQPGSRFSLEGASDADIGTNSLLTYSLDSTEYFTLDVKRNDEEIKSLGLVLKKNL
NREDTPKHYLLITAIDGGKPELTGTTQLKITVLDVNDNAPAFERTIYKVRLLENAPNGTLVVTVNATDLDEGVNKDIAYSFNTDMSADILSKFHLDPVNG
QISVKGNIDFEESKSYEIQVEATDKGNPPMSDHCTVLLEIVDINDNVPELVIQSLSLPVLEDSPLSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVST
FKNYYSLVLDSPLDRESVSAYELVVTARDGGSPSLWATAIVSVEVADVNDNAPAFSQSEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLMPRVGGIGGAVSELVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDEVDAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSQASAGATGPEAALVDVNVYL
IVAICAVSSLLVLTLLLYTALRCSAPPTEGDCGPGKPTLVCSSAVGSWSYSQQRQQRVYSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4596):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5291
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:932, None   



Context             (SEQ ID NO:4597):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4949
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:932, None   



Context             (SEQ ID NO:4598):
AAGCCACGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGTTATTCAATC
R
CTATCTTTACCTGTATTAGAAGACTCTCCACTTAGCACAGTCATCGCCCTGATCAGCGTGTCCGACCGCGACTCAGGAGTCAATGGACAGGTCACCTGCT
Celera SNP ID:            hCV25631170
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,38)   total(A,70|G,4)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 354, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,40)   total(A,69|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 354, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4599):
TTTCCAATGGCTGTAAAGAATCTGTTTATTTCCGAATCCCGACAGCCTGGCTCTCGGTTTTCGCTAGAGGGCGCATCAGATGCAGATATCGGAACAAATT
S
GTTGTTGACTTACAGTCTTGATTCCACTGAATATTTTACCTTGGACGTTAAAAGAAATGATGAGGAAATTAAATCCCTTGGACTCGTGTTGAAAAAAAAT
Celera SNP ID:            hCV25631171
SNP Position Transcript:  640
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 166, (S,TCG)   (W,TGG)   



Context             (SEQ ID NO:4600):
TCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAGGTGGAAGTGAAGGACATTAATGACAACGCGCCAGTTTTTCCAATGGCTGT
R
AAGAATCTGTTTATTTCCGAATCCCGACAGCCTGGCTCTCGGTTTTCGCTAGAGGGCGCATCAGATGCAGATATCGGAACAAATTCGTTGTTGACTTACA
Celera SNP ID:            hCV25631172
SNP Position Transcript:  554
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,36|G,2)   total(A,74|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 137, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4601):
AGCGGCCAGCTCCACTACTCCGTCTCTGAGGAGGCCAAGCATGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGC
M
GCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATAGACCGCGAGGAA
Celera SNP ID:            hCV25631173
SNP Position Transcript:  325
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,21)   caucasian(C,30)   total(A,7|C,51)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 61, (Q,CAG)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 61, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:4602):
ACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATAGACCGCGAGGAACTGTGCGGGCGGAGCGCGGAGTGCAGCAT
Y
CACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAGGTGGAAGTGAAGGACATTAATGACAACGCGCCAGTTTTTCCAATGGCTGTAA
Celera SNP ID:            hCV26311970
SNP Position Transcript:  455
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 104, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:4603):
GCATTACGTATTCAGATACTGCTTTGCTTCATCCTCTCTAAAATTTAACACCGAGGAGTTTAAGAAATGAAGATAAGGAACTCGAATTATTTTTAAA
Y
TTTGGATCAATGTAAAGGCAATCTAATATTTGGAAAATACTTGCAATGTTGTTCTCCTGGCGAGAAGATCCTGGAGCCCAGTGCCTGCTGCTTTCTCTTC
Celera SNP ID:            hCV25631174
SNP Position Transcript:  98
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,15)   caucasian(C,4|T,4)   total(C,5|T,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:932, None

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,23|T,15)   total(C,30|T,46)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:932, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(C,0|T,20)   Myers-TT(T,24|C,24)   total(C,24|T,44)no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:932, None   



Context             (SEQ ID NO:4604):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4396
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:932, None   



Context             (SEQ ID NO:4605):
GCCTACTGGTGCTGGTGAAGGACCACGGTGAACCCTCATTGACCGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGTGGCCAGGCACCCAAGGCCTC
K
TCCCAGGCGTCCGCTGGCGCCACGGGCCCGGAAGCTGCACTGGTGGATGTCAACGTGTACTTGATCGTCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGC
Celera SNP ID:            hCV25631167
SNP Position Transcript:  2180
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 679, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4606):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2800
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 886, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4607):
CCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCGATTTGGATGAAGGAGTAAATAAGGATATCGCGTATTCTTTCAATACGGACATGTCAGCAGATA
Y
TCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGTAACATAGATTTCGAGGAAAGTAAGTCATATGAAATCCAGGTAGAAGCC
Celera SNP ID:            hCV25631168
SNP Position Transcript:  1009
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(C,6|T,34)   total(C,7|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 289, (T,ACT)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 289, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:4608):
CATGTCAGCAGATATTCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGTAACATAGATTTCGAGGAAAGTAAGTCATATGAA
R
TCCAGGTAGAAGCCACGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGT
Celera SNP ID:            hCV25631169
SNP Position Transcript:  1095
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,19)   caucasian(A,23|G,17)   total(A,38|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 318, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,698|A,797)   total(G,698|A,797)no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 318, (I,ATC)   (V,GTC)      318, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:4609):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3010
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:932, None   



Context             (SEQ ID NO:4610):
TTGGTGCTGGACAGCCCTCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGGTGACTGCTCGGGACGGGGGCTCGCCTTCACTGTGGGCCACGGCCA
K
CGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCGGCATTCTCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCAC
Celera SNP ID:            hCV11840434
SNP Position Transcript:  1462
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,22)   caucasian(G,21|T,17)   total(G,25|T,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 440, (S,AGC)   (I,ATC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,6|T,8)   total(G,6|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 440, (S,AGC)   (I,ATC)      



Context             (SEQ ID NO:4611):
TACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGTTATTCAATCACTATCTTTACCTGTATTAGAAGACTCTCCACTTAGCACAGTCATCGC
Y
CTGATCAGCGTGTCCGACCGCGACTCAGGAGTCAATGGACAGGTCACCTGCTCGCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATT
Celera SNP ID:            hCV11840435
SNP Position Transcript:  1253
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,16|T,22)   total(C,46|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 370, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,6)   caucasian(C,17|T,23)   total(C,45|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 370, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,8)      total(C,8|T,6) ;no_pop(T,-|C,-)   JBIC-allele(C,698|T,797)   total(C,698|T,797) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 370, (A,GCC)   (A,GCT)      370, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:4612):
CCGCCAACCGAAGGCGACTGTGGGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCAGCAGAGGGTGT
R
CTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGAC
Celera SNP ID:            hCV15871597
SNP Position Transcript:  2419
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,17|G,23)   total(A,35|G,33)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 759, (Y,TAC)   (C,TGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,16)   caucasian(A,15|G,21)   total(A,29|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 759, (Y,TAC)   (C,TGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;JBIC-allele(A,611|G,704)   total(G,704|A,611)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:932, 759, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4613):
ATCGAGAGGACACTCCTAAGCATTATTTACTAATAACAGCAATTGATGGTGGGAAACCAGAGCTCACTGGCACGACTCAACTAAAGATCACTGTTTTAGA
Y
GTAAACGACAACGCCCCAGCGTTTGAGAGGACGATCTATAAAGTCAGATTACTCGAAAATGCACCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCG
Celera SNP ID:            hCV25765661
SNP Position Transcript:  845
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:932, 234, (D,GAC)   (D,GAT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255402 - 30000034447349
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894664 - 209000073752486
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35081215)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:236):
CAACAATGGCCACACATMGAGATTGAAATGAAGGGATAAAAACATTCCTATAAATTCGAAGGCAAGTTTTGCTGACTAGAAAAACAAGCCAATAATTTGA
AATGGTGTGCCCGAATGGATACGACCCAGGGGGCCGACATCTACTGCTGTTTATTATAATTCTAGCAGCTTGGGAGGCAGGGAGAGGCCAGCTCCACTAC
TCGGTCCCCGAGGAGGCTAAACATGGCAACTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGCGG
TGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTSTCGGATCGACCGCGAGGAGCTGTGCSGGCGGAGCGC
GGAGTGCAGCATCCACCTGGAGGTGATCGTRGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGARGGACATTAACGACAACCCTCCRGTGTTC
CCAGCGACACAAARGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCC
TGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTT
AGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTG
GACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCT
CAGATTTAGACGAAGGYTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGG
GGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCAT
TGTACAGTTCTTGTGGAAGTTGTGGATRTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTA
CCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCAC
CTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCT
TCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGA
ACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGG
CGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGYTGGACCACGAGGAGCTGGAGCTGTTGCAGTTC
CAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGG
CGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGA
CTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACG
ACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGSCACCGTGCTGG
TGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCRAGCTGGTGGATGTCAACGTGTACCT
GATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACRGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGT
TTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGA
CAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAG
AGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACA
CCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCG
GTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTT
CATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGAC
AACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTC
CTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTA
AGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCC
AGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGC
TTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAG
GCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGT
GGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATC
ATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTAT
TAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTT
TGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGA
ATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAG
CTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTA
TGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAAT
CTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACAC
CTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAAT
GCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTA
ACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAA
GAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGG
TGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAA
TTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGG
TAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAG
CTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCT
GACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTT
CCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCT
AATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:933):
MVCPNGYDPGGRHLLLFIIILAAWEAGRGQLHYSVPEEAKHGNFVGRIAQDLGLELAELVPRLFRAVCKFRGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVERPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLL
DREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAPVFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTVLVEVVDVNDNAPQLTLTSLSLPIPEDAQPGTVITLISVFDRDFGVNGQVTCSLTPRVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAGDADAQKNALVSYSLVELRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVRELVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPVAAGASIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSRASLGIAGPETELVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSAPSSEGACSLVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDNPRQPNPDWRYSASLR
AGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDF
ITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4614):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4315
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:933, None   



Context             (SEQ ID NO:4615):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5210
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:933, None   



Context             (SEQ ID NO:4616):
CACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCGGTGTTCCCAGCGACACAAA
R
GAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGA
Celera SNP ID:            hCV11158011
SNP Position Transcript:  514
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,19)   caucasian(A,20|G,18)   total(A,35|G,37)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 138, (K,AAG)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,8)   caucasian(A,20|G,12)   total(A,36|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 138, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:4617):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2719
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 873, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4618):
GGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCC
R
GTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGA
Celera SNP ID:            hCV11158012
SNP Position Transcript:  494
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,34)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 131, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:4619):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4868
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:933, None   



Context             (SEQ ID NO:4620):
GGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCG
Y
TGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCT
Celera SNP ID:            hCV25764777
SNP Position Transcript:  1668
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 523, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:4621):
TTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACAC
R
GCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGC
Celera SNP ID:            hCV25631141
SNP Position Transcript:  2258
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,40)   total(A,2|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 719, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4622):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2929
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:933, None   



Context             (SEQ ID NO:4623):
CCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGG
Y
TTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAG
Celera SNP ID:            hCV25631142
SNP Position Transcript:  917
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,4)   caucasian(C,22)   total(C,44|T,4)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 272, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,40)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 272, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:4624):
CAACAATGGCCACACAT
M
GAGATTGAAATGAAGGGATAAAAACATTCCTATAAATTCGAAGGCAAGTTTTGCTGACTAGAAAAACAAGCCAATAATTTGAAATGGTGTGCCCGAATGG
Celera SNP ID:            hCV25631150
SNP Position Transcript:  18
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:933, None



Context             (SEQ ID NO:4625):
TTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGAT
R
TAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGA
Celera SNP ID:            hCV25631143
SNP Position Transcript:  1128
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 343, (I,ATA)   (V,GTA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,29)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 343, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:4626):
GCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACC
R
AGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGC
Celera SNP ID:            hCV25631144
SNP Position Transcript:  2175
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,24)   caucasian(A,1|G,15)   total(A,3|G,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 692, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:4627):
GAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAG
S
CACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTC
Celera SNP ID:            hCV25631145
SNP Position Transcript:  2089
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,6)   caucasian(C,16)   total(C,38|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 663, (A,GCC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 663, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:4628):
GACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGA
R
GGACATTAACGACAACCCTCCGGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCG
Celera SNP ID:            hCV25631146
SNP Position Transcript:  472
SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,2)   caucasian(A,36)   total(A,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 124, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:4629):
TAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGT
R
GAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCGGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGG
Celera SNP ID:            hCV25631147
SNP Position Transcript:  431
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,21)   caucasian(A,2|G,34)   total(A,7|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:933, 110, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4630):
GTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGC
S
GGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCC
Celera SNP ID:            hCV25631148
SNP Position Transcript:  390
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,5|G,35)   total(C,6|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 97, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:4631):
GAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGCGGTGTGCAAATTCCGTGGGGATCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATT
S
TCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGAAAGGCCGCTGCAGGTTTTCCATGTGGACGTG
Celera SNP ID:            hCV25631149
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|G,3)   total(C,73|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:933, 88, (S,TCT)   (C,TGT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255408 - 30000034447358
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894663 - 209000073752498
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35059450)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:237):
ATGGTTTCCAGATGTAGCTGCCTGGGGGTCCAGTGTCTGCTGCTCTCGCTTCTTCTCCTCGCAGCCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCAG
TCTACGAGGAGGCCAGACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTC
CAAAYGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATTGACCGCGAGGAGCTGTGCGGGCGGAGCGTGGAG
TGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAAGTGAAGGACATTAACGACAACCCGCCCAGGTTCTCCG
TAACAGAACAAAAGCTCTCAATACCTGAATCCAGACTGCTTGACTCTCGATTTCCACTAGAAGGCGCATCTGATGCGGATGTTGGAGAGAACGCATTGCT
TACTTACAAACTCAGTCCAAATGAGTATTTTGTTCTTGATATTATAAACAAAAAAGACAAAGACAAATTCCCAGTGCTTGTTCTGCGGAAGCTGCTGGAT
CGTGAAGAAAATCCTCAGCTAAAGTTGTTGTTGACAGCAACTGATGGAGGCAAACCTGAATTTACCGGATCTGTTTCTCTGCTGATCCTGYTGTTAGATG
CCAATGATAACGCCCCTATCTTTGACAGACCGGTTTATGAAGTTAAGATGTATGAAAATCAAGTGAACCAAACATTAGTAATACGGCTCAACGCTTCTGA
TTCGGATGAAGGAATAAACAAGGAAATGATGTATTCATTTAGCTCTTTGGTCCCACCCACGATAAGAAGGAAATTTTGGATAAACGAAAGGACGGGAGAA
ATAAAAGTAAATGATGCTATTGACTTTGAGGACAGTAACACTTATGAAATTCATGTAGATGTTACAGATAAGGGAAACCCACCTATGGTTGGTCACTGCA
CGGTCCTAGTGGAACTACTGGATGAAAATGATAATTCACCTGAGGTGATTGTCACTTCTCTGTCTCTCCCAGTGAAAGAAGATGCTCAAGTGGGCACCGT
CATTGCCCTAATCAGCGTTTCTGACCATGATTCAGGAGCCAACGGACAGGTCACCTGCTCTCTGACGCCTCACGTTCCGTTCAAGCTGGTGTCCACCTAC
AAGAATTACTACTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGGGTGTCGGCCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTCCGC
TGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCGCCTGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGASAACAA
CCCGCCAGGCTGCCACATCTTCACGGTGTCTGCGTGGGACGCGGACGCGCAGGAGAACGCCCTGGTGTCCTACTCTCTGGTGGAGCGGCGGTTGGGCGAG
CGCTCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCKCTGCAGCCGCTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGG
TRRGCGCGCGCGATGGGGGCGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCCGCGCTGCTGGCGTC
TCCCGCTGGCAGCGCGGGCKGTGCAGTCAGTGAGCTGGTGCTGCGGTCGGTGGTTGCGGGTCACGTGGTGGCTAAGGTGCGSGCAGTGGACGCTGACTCT
GGATACAACGCGTGGCTGTCGTATGAATTGCKGTCGGCGGCGGTTGGTGCACGCATCCCGTTTCGCGTGGGGCTGTACACGGGCGAGATCAGTACGACGC
GCGCTCTGGATGAGACTGACTCGCCACGCCAGCGCCTACTGGTGCTGGTGAAGGACCATGGCGAGCCGTCGCTGACGGCCACGGCCACTGTGRTTGTGTC
GCTTGTGGAGGGCAGCCAGGCACCCAAGGCCTCGTCGCGGGCTTCAGTGGGCGTGGCGCCCGAGGTGGCCCTGGTGGATGTCAACGTGTACCTGATCATC
GCCATCTGCGCGGTGTCCAGCTTGCTGGTGCTCACGCTGCTGCTGTACACTGCACTGAGGTGCTCGGCGGCGCCCACCGAGGGCGCATGTGGGCCGGTGA
AGCCCACGCTGGTGTGCTCTAGCGCGGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGSTCTGGGGAGGGCCTGCCCAAGGCGGACCT
CATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAGCCACGACAGCCC
AACCCTGACTGGRGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTG
ATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTT
TAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGACAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAG
CCTACTAACAGCCAAATTGACAAAAGTGMCTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGG
AGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGAAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATC
TCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTRCATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGC
ATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTC
CTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCA
GGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGA
CGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGA
CCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTG
GCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATG
TGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAA
AAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGA
ATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACA
TCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTC
TCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATAT
TGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCT
ATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTGAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATA
CTTACTCTGTGCTTGTGTATGTGAKTGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTA
CACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGT
GATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATT
TTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTA
TCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTA
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTRTCTTGTCTACTTTTAGCTTCAT
TCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGT
GATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCT
GTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATGTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAA
TTGGTGCTATTGGTATTTCKTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:934):
MVSRCSCLGVQCLLLSLLLLAAWEVGSGQLHYSVYEEARHGTFVGRIAQDLGLELAELVQRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSVE
CSIHLEVIVDRPLQVFHVDVEVKDINDNPPRFSVTEQKLSIPESRLLDSRFPLEGASDADVGENALLTYKLSPNEYFVLDIINKKDKDKFPVLVLRKLLD
REENPQLKLLLTATDGGKPEFTGSVSLLILVLDANDNAPIFDRPVYEVKMYENQVNQTLVIRLNASDSDEGINKEMMYSFSSLVPPTIRRKFWINERTGE
IKVNDAIDFEDSNTYEIHVDVTDKGNPPMVGHCTVLVELLDENDNSPEVIVTSLSLPVKEDAQVGTVIALISVSDHDSGANGQVTCSLTPHVPFKLVSTY
KNYYSLVLDSALDRERVSAYELVVTARDGGSPPLWATARVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAWDADAQENALVSYSLVERRLGE
RSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDGGVPPLGSNLTLQVFVLDENDNAPALLASPAGSAGGAVSELVLRSVVAGHVVAKVRAVDADS
GYNAWLSYELQSAAVGARIPFRVGLYTGEISTTRALDETDSPRQRLLVLVKDHGEPSLTATATVLVSLVEGSQAPKASSRASVGVAPEVALVDVNVYLII
AICAVSSLLVLTLLLYTALRCSAAPTEGACGPVKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRKPRQP
NPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQE
PTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4632):
TGCGAAGTGCTTTCCAATCCATGTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTC
K
TCTGTTATTGCTAATAAATGAAAATGGTGGTATG
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5220
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:934, None   



Context             (SEQ ID NO:4633):
CTCCGCTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCGCCTGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGA
S
AACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTGCGTGGGACGCGGACGCGCAGGAGAACGCCCTGGTGTCCTACTCTCTGGTGGAGCGGCGGTTGG
Celera SNP ID:            hCV977324
SNP Position Transcript:  1395
SNP Source:               Applera
Population(Allele,Count): african american(C,12|G,10)   caucasian(C,5|G,27)   total(C,17|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 439, (S,AGC)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 439, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:4634):
AGAACGCCCTGGTGTCCTACTCTCTGGTGGAGCGGCGGTTGGGCGAGCGCTCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGC
K
CTGCAGCCGCTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGATGGGGGCGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAGG
Celera SNP ID:            hCV977325
SNP Position Transcript:  1554
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,18)   caucasian(G,17|T,9)   total(G,25|T,27)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 492, (S,TCG)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 492, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:4635):
CAATTTAGAAGTTTGATTAATTATATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACT
R
TCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAA
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4878
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:934, None   



Context             (SEQ ID NO:4636):
GAGCTGGTGCTGCGGTCGGTGGTTGCGGGTCACGTGGTGGCTAAGGTGCGCGCAGTGGACGCTGACTCTGGATACAACGCGTGGCTGTCGTATGAATTGC
K
GTCGGCGGCGGTTGGTGCACGCATCCCGTTTCGCGTGGGGCTGTACACGGGCGAGATCAGTACGACGCGCGCTCTGGATGAGACTGACTCGCCACGCCAG
Celera SNP ID:            hCV977327
SNP Position Transcript:  1832
SNP Source:               Applera
Population(Allele,Count): african american(G,15|T,13)   caucasian(G,26|T,12)   total(G,41|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 585, (G,GGT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 585, (G,GGT)   (V,GTT)      585, (V,GTT)   (G,GGT)      



Context             (SEQ ID NO:4637):
CCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAGCCACGACAGCCCAACCCTGACTGG
R
GTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCC
Celera SNP ID:            hCV25631132
SNP Position Transcript:  2413
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,37|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 779, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:4638):
CGAGGAGGCCAGACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAAA
Y
GACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATTGACCGCGAGGAGCTGTGCGGGCGGAGCGTGGAGTGCAG
Celera SNP ID:            hCV25631140
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 43, (L,CTC)   (F,TTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,38)   total(C,1|T,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 43, (L,CTC)   (F,TTC)   



Context             (SEQ ID NO:4639):
CGCCCACCGAGGGCGCATGTGGGCCGGTGAAGCCCACGCTGGTGTGCTCTAGCGCGGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTG
S
TCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAG
Celera SNP ID:            hCV25631135
SNP Position Transcript:  2271
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,31)   caucasian(G,26)   total(C,1|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 731, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:4640):
CTCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTG
R
GCGCGCGCGATGGGGGCGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCCGCGCTGCTGGCGTCTCC
Celera SNP ID:            hCV25631136
SNP Position Transcript:  1603
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,31)   total(A,1|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 509, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,37)   total(A,2|G,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 509, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:4641):
CGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCCGCGCTGCTGGCGTCTCCCGCTGGCAGCGCGGGC
K
GTGCAGTCAGTGAGCTGGTGCTGCGGTCGGTGGTTGCGGGTCACGTGGTGGCTAAGGTGCGCGCAGTGGACGCTGACTCTGGATACAACGCGTGGCTGTC
Celera SNP ID:            hCV25631137
SNP Position Transcript:  1720
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(G,1|T,37)   total(G,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 548, (V,GTG)   (L,TTG)   



Context             (SEQ ID NO:4642):
CTCCCGCGCTGCTGGCGTCTCCCGCTGGCAGCGCGGGCGGTGCAGTCAGTGAGCTGGTGCTGCGGTCGGTGGTTGCGGGTCACGTGGTGGCTAAGGTGCG
S
GCAGTGGACGCTGACTCTGGATACAACGCGTGGCTGTCGTATGAATTGCAGTCGGCGGCGGTTGGTGCACGCATCCCGTTTCGCGTGGGGCTGTACACGG
Celera SNP ID:            hCV25631138
SNP Position Transcript:  1782
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,38)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 568, (P,CCC)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 568, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:4643):
GCTGCTGGATCGTGAAGAAAATCCTCAGCTAAAGTTGTTGTTGACAGCAACTGATGGAGGCAAACCTGAATTTACCGGATCTGTTTCTCTGCTGATCCTG
Y
TGTTAGATGCCAATGATAACGCCCCTATCTTTGACAGACCGGTTTATGAAGTTAAGATGTATGAAAATCAAGTGAACCAAACATTAGTAATACGGCTCAA
Celera SNP ID:            hCV25631139
SNP Position Transcript:  691
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 205, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:4644):
ACTAACACCTATGATGTTACCTGAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGA
K
TGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGT
Celera SNP ID:            hCV985842
SNP Position Transcript:  4325
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:934, None   



Context             (SEQ ID NO:4645):
GCTCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGT
R
AGCGCGCGCGATGGGGGCGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCCGCGCTGCTGGCGTCTC
Celera SNP ID:            hCV25767034
SNP Position Transcript:  1602
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:934, 508, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4646):
TCCGGTCCCGGTGAGTTGCCCGACAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTG
M
CTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACT
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2729
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 884, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4647):
GACCAGTGAGGTCCTCAAATGGAAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCT
R
CATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGG
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2939
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:934, None   



Context             (SEQ ID NO:4648):
TACGACGCGCGCTCTGGATGAGACTGACTCGCCACGCCAGCGCCTACTGGTGCTGGTGAAGGACCATGGCGAGCCGTCGCTGACGGCCACGGCCACTGTG
R
TTGTGTCGCTTGTGGAGGGCAGCCAGGCACCCAAGGCCTCGTCGCGGGCTTCAGTGGGCGTGGCGCCCGAGGTGGCCCTGGTGGATGTCAACGTGTACCT
Celera SNP ID:            hCV3163200
SNP Position Transcript:  1993
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,7)      total(G,3|A,7) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:934, 639, (T,ACT)   (A,GCT)      639, (A,GCT)   (T,ACT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255413 - 30000034447391
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894630 - 209000073752492
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35040150)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:238):
TGACTGTGATGCTGGAAAAAATTTACTAAATATGTACTTACAGAAAAGGGTGAYTGCTCATAAAATACCTCAGGCAAGCGATCCCTTAAAACTGATTGTC
CCAACTCAGAGGCCCTCATTTTCTGCAATGGTGATTATCGGACCAAGAGGCCCGGGATCCCAGCGTCTGCTGCTCTCGCTTCTGCTCCTTGCAGCCTGGG
AGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTACGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAGCTGGCGGA
GCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACSGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGAC
CGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCACCTGGAGGTGAYCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGG
ACATTAACGACAACCCGCCGGTGTTCAGAGAAAGGGAACAAAAGGTACCTGTTTCTGAATCTGCGCCTCTGGACTCTCATTTTCCTCTAGAGGGCGCTTC
TGATGCGGATATCGGCGTAAACTCTCTTTTGACCTATGCGTTAAGTCTAAATGAGAATTTTGAGCTTAAAATAAAAACAAAAAAAGATAAAAGTATATTG
CCTGAATTAGTTCTTCGGAAGTTATTGGACAGAGAGCAAACGCCAAAACTCAATTTATTGCTGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGT
STGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCCMAGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGA
CACAAGAGTGATCCAACTAAATGCTTCCGATCCAGACGAAGGACTTAATGGAGAAATTTCCTATGGGATCAAAATGATTTTGCCAGTGAGTGAGAAATGT
ATGTTTTCAATAAATCCAGACACAGGTGAAATTAGAATTTATGGTGAACTGGATTTTGAAGAGAATAATGCCTATGAAATTCAGGTTAACGCCATTGATA
AAGGGATTCCTTCCATGGCAGGTCACAGCATGGTCCTGGTGGAAGTTCTGGACGTGAATGACAATGTCCCTGAAGTAATGGTTACTTCACTGTCGCTCCC
TGTGCAAGAGGATGCTCAGGTGGGTACCGTCATTGCCCTGATTAGCGTGTCGGATCGTGACTCTGGAGCCAATGGACAGGTCATCTGCTCACTGACACCT
CATGTTCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGG
TGACTGCGCGGGATGGGGGYTCGCCTTCGCTGTGGGCCACGGCTAGAGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCTGCGTTCGCGCAGCC
CGAGTACACAGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCGGCATGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCC
TACTCGCTGGTGGAGCGGCGGGTGGGCGAGCACGCACTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTAGACC
ACGAGGAGCTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCCGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGA
GAACGACAACGCGCCGGCACTGCTGGCGACTCCGGCTGGCAGCGCAGGAGGCGCAGTTAGCGAGTTGGTACCGCGGTCGGTGGGTGCGGGCCACGTGGTG
GCGAAAGTGCGCGCGGTGGACGCTGACTCCGGCTATAACGCTTGGCTGTCCTACGAGTTGCAACCGGCGGCGGTCGGCGCGCACATCCCGTTCCACGTGG
GGCTGTACACTGGCGAGATCAGCACGACACGCATCCTGGATGAGGCGGACGCTCCGCGCCACCGCCTGCTGGTGCTGGTGAAGGACCACGGTGAGCCCGC
GCTGACGTCCACGGCCACGGTGCTGGTGTCGCTGGTGGAGAACGGCCAGGCCCCAAAGACGTCGTCGCGGGCCTCAGTGGGCGCTGTGGATCCCGAAGCG
GCTCTGGTGGATATTAACGTGTACCTCATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAG
CGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCYGYGGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGT
GTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGCTGTCTCGAGAAGATTGTTTAAATCCTCCCAGTGAACCACGA
CAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAG
GGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTG
GACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGG
CAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGA
CCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGG
CAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTA
GAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCA
AGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACA
CTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGG
CTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTA
AAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGT
CTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGAT
CTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAA
AAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAA
ATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCT
GAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTC
TCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAA
AAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCC
TTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGA
AATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCT
TTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGAT
ACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTA
ACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTA
ATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGAT
TAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAG
CTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTA
GGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAAT
GTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCAT
TTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:935):
MYLQKRVTAHKIPQASDPLKLIVPTQRPSFSAMVIIGPRGPGSQRLLLSLLLLAAWEVGSGQLHYSVYEEAKHGTFVGRIAQDLGLELAELVPRLFRVAS
KRHGDLLEVNLQNGILFVNSRIDREKLCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFREREQKVPVSESAPLDSHFPLEGASDADIGVNSLL
TYALSLNENFELKIKTKKDKSILPELVLRKLLDREQTPKLNLLLMVIDGGKPELTGSVQIQITVLDVNDNGPAFDKPSYKVVLSENVQNDTRVIQLNASD
PDEGLNGEISYGIKMILPVSEKCMFSINPDTGEIRIYGELDFEENNAYEIQVNAIDKGIPSMAGHSMVLVEVLDVNDNVPEVMVTSLSLPVQEDAQVGTV
IALISVSDRDSGANGQVICSLTPHVPFKLVSTYKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENN
PPGCHIFTVSAWDADAQKNALVSYSLVERRVGEHALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAT
PAGSAGGAVSELVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAVGAHIPFHVGLYTGEISTTRILDEADAPRHRLLVLVKDHGEPALTSTATVLVS
LVENGQAPKTSSRASVGAVDPEAALVDINVYLIIAICAVSSLLVLTLLLYTALRCSAPPTVSRCAPGKPTLVCSSAVGSWSYSQQRRQRVCSAESPPKTD
LMAFSPSLQLSREDCLNPPSEPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPK
QSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4649):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5248
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:935, None   



Context             (SEQ ID NO:4650):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4353
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:935, None   



Context             (SEQ ID NO:4651):
GGCCAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACAC
S
GGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCA
Celera SNP ID:            hCV25959705
SNP Position Transcript:  341
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 104, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:4652):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2757
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 909, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4653):
GAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCACCTGGAGGTGA
Y
CGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCGCCGGTGTTCAGAGAAAGGGAACAAAAGGTACCTGTT
Celera SNP ID:            hCV25964947
SNP Position Transcript:  453
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 141, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:4654):
TGACTGTGATGCTGGAAAAAATTTACTAAATATGTACTTACAGAAAAGGGTGA
Y
TGCTCATAAAATACCTCAGGCAAGCGATCCCTTAAAACTGATTGTCCCAACTCAGAGGCCCTCATTTTCTGCAATGGTGATTATCGGACCAAGAGGCCCG
Celera SNP ID:            hCV25961191
SNP Position Transcript:  54
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 8, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:4655):
TGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGGTGACTGCGCGGGATGGGGG
Y
TCGCCTTCGCTGTGGGCCACGGCTAGAGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTGTTCGTGA
Celera SNP ID:            hCV25991961
SNP Position Transcript:  1420
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,24)   total(C,53|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:935, 463, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:4656):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4906
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:935, None   



Context             (SEQ ID NO:4657):
TGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGTCTGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCC
M
AGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGACACAAGAGTGATCCAACTAAATGCTTCCGATCCAGACGAAGGACTTAATGGAGAAATTTCCT
Celera SNP ID:            hCV8940094
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,20)   caucasian(A,25|C,15)   total(A,37|C,35)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:935, 277, (P,CCA)   (P,CCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,23|C,15)   total(A,37|C,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:935, 277, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|C,6)      total(A,6|C,6) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:935, 277, (P,CCA)   (P,CCC)      277, (P,CCC)   (P,CCA)      



Context             (SEQ ID NO:4658):
TGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAGCGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGC
Y
GTGGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGC
Celera SNP ID:            hCV26000223
SNP Position Transcript:  2359
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:935, 776, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:4659):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2967
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:935, None   



Context             (SEQ ID NO:4660):
CCTGAATTAGTTCTTCGGAAGTTATTGGACAGAGAGCAAACGCCAAAACTCAATTTATTGCTGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGT
S
TGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCCCAGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGAC
Celera SNP ID:            hCV25995495
SNP Position Transcript:  801
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,38)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 257, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:4661):
GTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAGCGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCCG
Y
GGGGAGTTGGTCTTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGCTG
Celera SNP ID:            hCV25973603
SNP Position Transcript:  2361
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(T,40)   total(C,2|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:935, 777, (A,GCG)   (V,GTG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348267 - 30000034447456
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913511 - 206000045673867
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35126669..35129501)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:239):
ATTGCAGACAGATATAGATTGCATTTTGAAAATCAACGAATGGATCTAAAATTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATA
GAAGGGAGCTACTGATCACTAAAAGTGAAGGAGGAAGCTCCATTTTGTCACCGCCTGAGAGAAGACAGAAACGGTAAAGAGATAAATGATTGGAAATATT
AGATAAAATGGCATGATTTTGAAGTAAGAGGAGAGCATAAGAAAGGTGTAGTCCTTTTGCAATGGTGTTTTCTAGGAGAGGGGGCCTGGGAGCCCGGGAT
CTGCTTCTTTGGCTTCTGCTCCTCGCAGCCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGCACCTTCGTTGGCC
GCGTTGCTCAGGACCTGGGACTGGAGCTGGCGGAGCTGGTGCCTCGCCTGTTCCGGGTGGCGTCCAAAACACACAGGGACCTTCTGGAGGTAAATCTGCA
GAATGGCATTTTGTTTGTGAATTCTCGGATCGATCGCGAGGAGCTGTGCCAGTGGAGCGCGGAGTGCAGCATCCACCTGGAGTTGATCGCCGACAGGCCG
CTGCAGGTTTTCCATGTGGAGGTGAAGGTGAAAGACATTAACGATAATCCACCCGTCTTCAGGGGCAGAGAACAAATAATATTTATTCCTGAATCTAGAC
TCCTGAATTCGCGTTTTCCGATAGAAGGAGCTGCTGATGCAGACATTGGTGCTAACGCTCTTCTAACGTACACGCTCAGCCCGAGTGATTATTTCTCTTT
GGATGTAGAGGCAAGTGATGAACTGAGTAAATCTCTTTGGCTTGAATTGAGAAAATATTTGGATAGAGAAGAAACACCAGAACTTCACTTATTACTGACT
GCCACTGATGGGGGCAAACCGGAGCTGCAAGGTACAGTTGAGCTGCTGATCACCGTCCTCGACGTTAATGATAACGCCCCACTGTTTGACCAGGCCGTAT
ACAGAGTCCACTTGTTAGAGACTACAGCAAATGGAACATTAGTGACCACATTAAATGCCTCTGATGCTGACGAAGGTRTAAATGGTGAAGTCGTCTTTTC
CTTTGACAGTGGTATTTCTCGTGACATTCAAGAAAAATTCAAAGTTGATTCCAGCTCAGGAGAAATTAGGTTAATTGATAAACTGGATTATGAAGAAACA
AAATCCTACGAAATTCAAGTAAAGGCAGTTGATAAAGGAAGTCCTCCGATGTCAAATCACTGTAAGGTTTTGGTGAAAGTGCTGGATGTAAATGATAATY
CTCCAGAACTGGCGGTCACTTCATTGTATTTGCCTATCAGAGAGMACGCTCCACTCAGCACCGTCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGG
TGCCAACGGGCAGGTGACTTGCTCCTTAATGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTTSAAGAATTACTACTCGTTGGTGTTGGACAGCGCCCTG
GATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGRGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGGGTGTCCYTGGAGGTGGCCG
ACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACARTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCASGGTGTCTGCGCG
GGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTATTCGCTGGTGGAACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAG
AGCGGCAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAGTTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCA
GCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGAGTGGGTGGCACTATTGGTGCAGTCAGTGAGCT
GGTGCCGCGATTGGTGGGTGCGGGTCATGTGGTGGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTGTCCTATGAACTGCAGCCG
GCAGCAGGCGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACGACTCGTGTCCTGGACGAGGCTGACTTGTCGCGRTRCCGCC
TTCTGGTGCTAGYGAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGAKCGGCCAGGCGCCAAAGGCGTCTTC
GCGGGCGTCGGTGGGTGTCGCGGGCCCAGAGGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGCCTGCTGGTGCTC
ACACTGCTGCTGTACYCGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGCGTGTGTGCCGGGCAAGCCCACTCTGGTGTGCTCCAGCGCGTTGGGGA
GCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGTTCTCTAGCGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCAGGCCTATCTCCAAGTCT
TAACACGTCAGAAAGAAATGAACAACCAGAAGCAAATTTGGATCTTTCTGGTAATGTAAGTCCAACTTTCGAGTTTTGGCTTTAAATATTTTTCATATTT
AACTTGTCTAATCATCTTTTCAAATATCACTTTAAAAAATGTCTTCAAGGTGTTCACTAACGTTGAAATAAATCATACCATTGAATGTAGATATCCTATT
AATGGCAGTTTTGTCTTGAATGGAACTAGAAA

Protein Sequence    (SEQ ID NO:936):
MVFSRRGGLGARDLLLWLLLLAAWEVGSGQLHYSIPEEAKHGTFVGRVAQDLGLELAELVPRLFRVASKTHRDLLEVNLQNGILFVNSRIDREELCQWSA
ECSIHLELIADRPLQVFHVEVKVKDINDNPPVFRGREQIIFIPESRLLNSRFPIEGAADADIGANALLTYTLSPSDYFSLDVEASDELSKSLWLELRKYL
DREETPELHLLLTATDGGKPELQGTVELLITVLDVNDNAPLFDQAVYRVHLLETTANGTLVTTLNASDADEGVNGEVVFSFDSGISRDIQEKFKVDSSSG
EIRLIDKLDYEETKSYEIQVKAVDKGSPPMSNHCKVLVKVLDVNDNAPELAVTSLYLPIREDAPLSTVIALITVSDRDSGANGQVTCSLMPHVPFKLVST
FKNYYSLVLDSALDRESLSVYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVG
ERALSNYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTIGAVSELVPRLVGAGHVVAKVRAVDAD
SGYNAWLSYELQPAAGGARIPFRVGLYTGEISTTRVLDEADLSRYRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRASVGVAGPEAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSVPPTEGACVPGKPTLVCSSALGSWSNSQQRRQRVFSSEGPPKTDLMAFSPGLSPSLNTSERNEQPEANLDLSGNVS
PTFEFWL


SNP Information

Context             (SEQ ID NO:4662):
CCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGTTGGACAGCGCCCTGGATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCG
R
GCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGGGTGTCCGTGGAGGTGGCCGACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTAC
Celera SNP ID:            hCV27509391
SNP Position Transcript:  1541
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 514, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:4663):
AAAATCCTACGAAATTCAAGTAAAGGCAGTTGATAAAGGAAGTCCTCCGATGTCAAATCACTGTAAGGTTTTGGTGAAAGTGCTGGATGTAAATGATAAT
Y
CTCCAGAACTGGCGGTCACTTCATTGTATTTGCCTATCAGAGAGGACGCTCCACTCAGCACCGTCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGG
Celera SNP ID:            hCV25638140
SNP Position Transcript:  1300
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,38)   total(C,2|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 434, (P,CCG)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 434, (P,CCG)   (S,TCG)   



Context             (SEQ ID NO:4664):
GTGGAGGTGGCCGACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCA
S
GGTGTCTGCGCGGGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTATTCGCTGGTGGAACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCA
Celera SNP ID:            hCV25638141
SNP Position Transcript:  1688
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 563, (P,CCG)   (R,CGG)   



Context             (SEQ ID NO:4665):
GCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACGACTCGTGTCCTGGACGAGGCTGACTTGTCGCGCTACCGCCTTCTGGTGCTAG
Y
GAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGAGCGGCCAGGCGCCAAAGGCGTCTTCGCGGGCGTCGGTG
Celera SNP ID:            hCV25638133
SNP Position Transcript:  2213
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 738, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:4666):
TGCAGCCGGCAGCAGGCGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACGACTCGTGTCCTGGACGAGGCTGACTTGTCGCG
R
TACCGCCTTCTGGTGCTAGTGAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGAGCGGCCAGGCGCCAAAGG
Celera SNP ID:            hCV25638134
SNP Position Transcript:  2193
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:936, 731, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:4667):
CCCACTGTTTGACCAGGCCGTATACAGAGTCCACTTGTTAGAGACTACAGCAAATGGAACATTAGTGACCACATTAAATGCCTCTGATGCTGACGAAGGT
R
TAAATGGTGAAGTCGTCTTTTCCTTTGACAGTGGTATTTCTCGTGACATTCAAGAAAAATTCAAAGTTGATTCCAGCTCAGGAGAAATTAGGTTAATTGA
Celera SNP ID:            hCV25638142
SNP Position Transcript:  1078
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,38)   total(A,70|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 360, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:4668):
TGTCGCGGGCCCAGAGGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGCCTGCTGGTGCTCACACTGCTGCTGTAC
Y
CGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGCGTGTGTGCCGGGCAAGCCCACTCTGGTGTGCTCCAGCGCGTTGGGGAGCTGGTCGAACTCACA
Celera SNP ID:            hCV25638135
SNP Position Transcript:  2416
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 806, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:4669):
GGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGGGTGTCCGTGGAGGTGGCCGACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACA
R
TATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTATTCGCTGGT
Celera SNP ID:            hCV25638136
SNP Position Transcript:  1645
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 549, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:4670):
GGACAGCGCCCTGGATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGGGTGTCC
Y
TGGAGGTGGCCGACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCAC
Celera SNP ID:            hCV25638137
SNP Position Transcript:  1588
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,24|T,14)   total(C,40|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:936, 530, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,526|C,573)   total(C,573|T,526) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:936, 530, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4671):
TCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACTTGCTCCTTAATGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTT
S
AAGAATTACTACTCGTTGGTGTTGGACAGCGCCCTGGATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGC
Celera SNP ID:            hCV25638138
SNP Position Transcript:  1464
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:936, 488, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:4672):
TCCGATGTCAAATCACTGTAAGGTTTTGGTGAAAGTGCTGGATGTAAATGATAATGCTCCAGAACTGGCGGTCACTTCATTGTATTTGCCTATCAGAGAG
M
ACGCTCCACTCAGCACCGTCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACTTGCTCCTTAATGCCCCACGTCCCCTT
Celera SNP ID:            hCV25638139
SNP Position Transcript:  1345
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|C,1)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 449, (N,AAT)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,15|A,1472)   total(A,1472|C,15) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 449, (N,AAT)   (H,CAT)      



Context             (SEQ ID NO:4673):
GAGGCTGACTTGTCGCGCTACCGCCTTCTGGTGCTAGTGAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGA
K
CGGCCAGGCGCCAAAGGCGTCTTCGCGGGCGTCGGTGGGTGTCGCGGGCCCAGAGGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGC
Celera SNP ID:            hCV15871598
SNP Position Transcript:  2276
SNP Source:               Applera
Population(Allele,Count): african american(G,16|T,22)   caucasian(G,25|T,15)   total(G,41|T,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 759, (C,TGC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 759, (C,TGC)   (F,TTC)      



Context             (SEQ ID NO:4674):
CAGCCGGCAGCAGGCGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACGACTCGTGTCCTGGACGAGGCTGACTTGTCGCGCT
R
CCGCCTTCTGGTGCTAGTGAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGAGCGGCCAGGCGCCAAAGGCG
Celera SNP ID:            hCV15871608
SNP Position Transcript:  2195
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,22)   caucasian(A,23|G,15)   total(A,39|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 732, (Y,TAT)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,706|A,787)   total(G,706|A,787) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:936, 732, (Y,TAT)   (C,TGT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348256 - 30000034447294
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913509 - 206000045673944
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35043959..35047250)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:240):
TTTTCCTTTGTGGATTCTTTTTTAAAACTACCAAGTTTGAGAATATGAATATATTTGTTTTTCATATTGTTCTGCAATGAATATAAAGTCACTTATAATC
AGAAAGCAATTAAATGTAAATAACAGTAAAGAATGAGAACTATAGAAAATAGATATGAAAATGCAAGCCCACAGAGATGAGAATAGATCATGTGGAACAT
AAACACTAAAGAGCTGCTTTTATAAAACTTCAATTTTTTCTTTGAGTTCCCTAGCAGCCAAAGTAACAAGGGAGACTGAAAGTAAAACAATTCAAATTTG
ATAGTATTTTTATATGAGGAACAACACTTTCAGGAAATGTTTAACCCTAGTTTTTCATGAGGCCACCTTAACAACTGAATTCTCTTTCTCTCTCACTCTG
TGTATAAGTATTTTAGATAAGTAAAAGAACAATGTTATAATGTTAAGTCAAACATAGACACAATAATTTAAATTTGATGTTAATCGAGAAATACAATGCC
ATTTCCATATATATTTAGTTTCAATATGACTTATAATCTGAATATTCCATAAATAAGCACGTTGGAAATATTTGGGGGAAGAAACCCAAAACACGTGAAA
TTCTGTGGTGGTAAATGCAGTGCACAGTACTCACAGTTTTAGGCGCAAGGTGTCGCTCTTTACTTGGTGGAAAGTTCATTTAAAGGTTGGTCTGAACAGT
GAGGCACTYCCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGARACT
GAAGAATCTGGTACTGTAAGTGTAAAGAAGCTTATTTTGGAAGCCAATTTCGTATGCGATGTTTGGTTTTCAGAGAAGGGGATTGGGCACCCCACGACTA
CAGCTCTGGCTTCTCCTCCTCGAATTCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCGGAGGAGGCYAAACACGGCACCTTCGTGGGCCGCA
TCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAAAACACATGGGGACCTTCTGGAGGTAAATCTGCAGAA
TGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCAGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTG
CAGGTTTTCCATGTGAACGTGGAGGTGAAGGACATTAACGACAACCCGCCGGTGTTCTCGCTCAGAGAACAAAAGCTGCTGATTGCGGAATCTAAGCAAT
CGGACTCGCGTTTTCCACTAGAGGGAGCTTCTGATGCTGACATTGAAGAGAATGCTCTATTGACCTACAGGCTAAGTAAAAATGAGTATTTTTCTTTAGA
TTCACCAACAAATGGTAAGCAGATTAAAAGACTGTCACTTATTTTAAAGAAGTCTCTGGATAGAGAGAAAACTCCGGAACTTAATTTGCTGCTAACAGCT
ACAGACGGGGGAAAACCAGAGCTTACTGGCACCGTTCGGCTGTTAGTCCAAGTCTTGGATGTCAACGACAATGATCCAGAGTTTGATAAATCAGAATATA
AGGTGAGCCTTATGGAAAATGCTGCTAAAGAAACTCTTGTGCTCAAACTAAACGCCACAGACCGAGACGAAGGAGTCAATGGAGAGGTAACATACTCCTT
AATGTCAATTAAGCCCAATGGAAGACACTTATTTACACTAGATCAAAATAATGGAGAAGTGAGGGTCAATGGAACTTTAGATTATGAAGAAAACAAGTTT
TATAAAATTGAAGTACAGGCTACAGATAAGGGGACTCCCCCAATGGCAGGTCACTGTACAGTCTGGGTGGAAATCTTGGACACCAACGATAACTCTCCTG
AAGTCGCCGTGACTTCCTTGTCCCTCCCAGTACGAGAGGACGCTCAGCCCAGCACSGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAA
CGGACAGGTGACCTGCTCGCTGACSCCCCACGTTCCCTTCAAGCTGGTGTCCAYCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGC
GAGAACGTGTGGGCCTATGAACTGGTGGTGACTGCGCGGGATGGGGGTTCGCCTTCTCTGTGGGCCACGGCCAGGGTATCCGTGGAGGTGGCCGACGTGA
ACGACAATGCGCCTGCGTTCGCACAGCCCGAGTACACCGTGTTCGTGAAGGAGAACAACCCACCAGGCTGCCACATCTTCACAGTGTCGGCGCGGGACGC
GGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGACCGCGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGC
AAGGTGTACGCGCTGCAGCCGYTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGAGCAGCAACG
TGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGACTCAGGCTGGCAGCGCGGGAGGCGCAGTTAACAAGCTAGTACC
GCGGTCGGTGGGTGCGGGCCACGTGGTGGCGAAGGTGCGCKCAGTGGATGCGGACTCAGGCTACAACGCGTGGCTTTCATATGAATTGCAGCCGGCGGCG
GGCGGCTCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATAAGCACAACGCGTGCCCTGGACGAGGCAGACTCGCCGCGCCACCGACTTCTAG
TACTGGTGAAGGATCACGGTGAGCCGGCGCTGACGGCCACGGCCACCGTGCTGGTGTCRTTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGAC
TTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGATMATCGCCATCTGCGTGGTGTCCAGCCTCCTGGTACTCACGCTG
CTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGT
CATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGASGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAA
AGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAGGTGAGTTTTCTACAGATTCCACCTATCAGGAAGTGTATGTGA

Protein Sequence    (SEQ ID NO:937):
MFGFQRRGLGTPRLQLWLLLLEFWEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVQRLFRVASKTHGDLLEVNLQNGILFVNSRIDREELCGQSA
ECSIHLEVIVDRPLQVFHVNVEVKDINDNPPVFSLREQKLLIAESKQSDSRFPLEGASDADIEENALLTYRLSKNEYFSLDSPTNGKQIKRLSLILKKSL
DREKTPELNLLLTATDGGKPELTGTVRLLVQVLDVNDNDPEFDKSEYKVSLMENAAKETLVLKLNATDRDEGVNGEVTYSLMSIKPNGRHLFTLDQNNGE
VRVNGTLDYEENKFYKIEVQATDKGTPPMAGHCTVWVEILDTNDNSPEVAVTSLSLPVREDAQPSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVSTF
KNYYSLVLDSALDRENVWAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRLGD
RALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLSSNVTLQVFVLDENDNAPALLATQAGSAGGAVNKLVPRSVGAGHVVAKVRAVDADS
GYNAWLSYELQPAAGGSRIPFRVGLYTGEISTTRALDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRTLAGAASPEAALVDVNVYLI
IAICVVSSLLVLTLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQVSF
LQIPPIRKCM


SNP Information

Context             (SEQ ID NO:4675):
GGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGACCGCGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCG
Y
TGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGAGCAGCAACGTGACGCTGCAGGTGTTCGTGCT
Celera SNP ID:            hCV8940101
SNP Position Transcript:  2422
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,15)   caucasian(C,24|T,14)   total(C,37|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 522, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 522, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4676):
CGTTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGACTTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGAT
M
ATCGCCATCTGCGTGGTGTCCAGCCTCCTGGTACTCACGCTGCTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGG
Celera SNP ID:            hCV25969704
SNP Position Transcript:  2958
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,29)   caucasian(C,24)   total(A,1|C,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 700, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:4677):
ACGGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGACGCCCCACGTTCCCTTCAAGCTGGTGTCCA
Y
CTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAACGTGTGGGCCTATGAACTGGTGGTGACTGCGCGGGATGGGGGTTCGCCT
Celera SNP ID:            hCV25961302
SNP Position Transcript:  2054
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,25|T,1)   total(C,55|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:937, 399, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:4678):
CAGTGAGGCACTTCCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGA
R
ACTGAAGAATCTGGTACTGTAAGTGTAAAGAAGCTTATTTTGGAAGCCAATTTCGTATGCGATGTTTGGTTTTCAGAGAAGGGGATTGGGCACCCCACGA
Celera SNP ID:            hCV25997327
SNP Position Transcript:  797
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,26)   total(A,57|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:937, None



Context             (SEQ ID NO:4679):
TGGTAAATGCAGTGCACAGTACTCACAGTTTTAGGCGCAAGGTGTCGCTCTTTACTTGGTGGAAAGTTCATTTAAAGGTTGGTCTGAACAGTGAGGCACT
Y
CCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGAAACTGAAGAATCT
Celera SNP ID:            hCV8940105
SNP Position Transcript:  709
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)   Myers-Chimp(T,0|C,20)   Myers-TT(T,23|C,24)   total(C,44|T,23)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:937, None   



Context             (SEQ ID NO:4680):
TCCCAGTACGAGAGGACGCTCAGCCCAGCACGGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGAC
S
CCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAACGTGTGGGCCTATGAACTGG
Celera SNP ID:            hCV25961232
SNP Position Transcript:  2025
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,29)   caucasian(C,1|G,25)   total(C,2|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 389, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4681):
GCCGGCACTGCTGGCGACTCAGGCTGGCAGCGCGGGAGGCGCAGTTAACAAGCTAGTACCGCGGTCGGTGGGTGCGGGCCACGTGGTGGCGAAGGTGCGC
K
CAGTGGATGCGGACTCAGGCTACAACGCGTGGCTTTCATATGAATTGCAGCCGGCGGCGGGCGGCTCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGG
Celera SNP ID:            hCV25970787
SNP Position Transcript:  2641
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,1)   caucasian(G,40)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:937, 595, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   caucasian(G,22)   total(G,47|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:937, 595, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:4682):
CCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGA
S
GGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAGGTGAGT
Celera SNP ID:            hCV25957804
SNP Position Transcript:  3155
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,38)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:937, 766, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:4683):
GAAGGGGATTGGGCACCCCACGACTACAGCTCTGGCTTCTCCTCCTCGAATTCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCGGAGGAGGC
Y
AAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAAAACACATGGGG
Celera SNP ID:            hCV25967452
SNP Position Transcript:  975
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,26)   total(C,57|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 39, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:4684):
GTACAGTCTGGGTGGAAATCTTGGACACCAACGATAACTCTCCTGAAGTCGCCGTGACTTCCTTGTCCCTCCCAGTACGAGAGGACGCTCAGCCCAGCAC
S
GTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGACGCCCCACGTTCCCTTCAAGCTGGTGTCCACCT
Celera SNP ID:            hCV25972381
SNP Position Transcript:  1956
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(C,1|G,25)   total(C,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 366, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4685):
GTGCCCTGGACGAGGCAGACTCGCCGCGCCACCGACTTCTAGTACTGGTGAAGGATCACGGTGAGCCGGCGCTGACGGCCACGGCCACCGTGCTGGTGTC
R
TTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGACTTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGATCA
Celera SNP ID:            hCV25970325
SNP Position Transcript:  2859
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,1|G,23)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:937, 667, (S,TCA)   (S,TCG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255412 - 30000034447287
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894660 - 209000073752484
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35047250)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:241):
TTTTCCTTTGTGGATTCTTTTTTAAAACTACCAAGTTTGAGAATATGAATATATTTGTTTTTCATATTGTTCTGCAATGAATATAAAGTCACTTATAATC
AGAAAGCAATTAAATGTAAATAACAGTAAAGAATGAGAACTATAGAAAATAGATATGAAAATGCAAGCCCACAGAGATGAGAATAGATCATGTGGAACAT
AAACACTAAAGAGCTGCTTTTATAAAACTTCAATTTTTTCTTTGAGTTCCCTAGCAGCCAAAGTAACAAGGGAGACTGAAAGTAAAACAATTCAAATTTG
ATAGTATTTTTATATGAGGAACAACACTTTCAGGAAATGTTTAACCCTAGTTTTTCATGAGGCCACCTTAACAACTGAATTCTCTTTCTCTCTCACTCTG
TGTATAAGTATTTTAGATAAGTAAAAGAACAATGTTATAATGTTAAGTCAAACATAGACACAATAATTTAAATTTGATGTTAATCGAGAAATACAATGCC
ATTTCCATATATATTTAGTTTCAATATGACTTATAATCTGAATATTCCATAAATAAGCACGTTGGAAATATTTGGGGGAAGAAACCCAAAACACGTGAAA
TTCTGTGGTGGTAAATGCAGTGCACAGTACTCACAGTTTTAGGCGCAAGGTGTCGCTCTTTACTTGGTGGAAAGTTCATTTAAAGGTTGGTCTGAACAGT
GAGGCACTYCCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGARACT
GAAGAATCTGGTACTGTAAGTGTAAAGAAGCTTATTTTGGAAGCCAATTTCGTATGCGATGTTTGGTTTTCAGAGAAGGGGATTGGGCACCCCACGACTA
CAGCTCTGGCTTCTCCTCCTCGAATTCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCGGAGGAGGCYAAACACGGCACCTTCGTGGGCCGCA
TCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAAAACACATGGGGACCTTCTGGAGGTAAATCTGCAGAA
TGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCAGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTG
CAGGTTTTCCATGTGAACGTGGAGGTGAAGGACATTAACGACAACCCGCCGGTGTTCTCGCTCAGAGAACAAAAGCTGCTGATTGCGGAATCTAAGCAAT
CGGACTCGCGTTTTCCACTAGAGGGAGCTTCTGATGCTGACATTGAAGAGAATGCTCTATTGACCTACAGGCTAAGTAAAAATGAGTATTTTTCTTTAGA
TTCACCAACAAATGGTAAGCAGATTAAAAGACTGTCACTTATTTTAAAGAAGTCTCTGGATAGAGAGAAAACTCCGGAACTTAATTTGCTGCTAACAGCT
ACAGACGGGGGAAAACCAGAGCTTACTGGCACCGTTCGGCTGTTAGTCCAAGTCTTGGATGTCAACGACAATGATCCAGAGTTTGATAAATCAGAATATA
AGGTGAGCCTTATGGAAAATGCTGCTAAAGAAACTCTTGTGCTCAAACTAAACGCCACAGACCGAGACGAAGGAGTCAATGGAGAGGTAACATACTCCTT
AATGTCAATTAAGCCCAATGGAAGACACTTATTTACACTAGATCAAAATAATGGAGAAGTGAGGGTCAATGGAACTTTAGATTATGAAGAAAACAAGTTT
TATAAAATTGAAGTACAGGCTACAGATAAGGGGACTCCCCCAATGGCAGGTCACTGTACAGTCTGGGTGGAAATCTTGGACACCAACGATAACTCTCCTG
AAGTCGCCGTGACTTCCTTGTCCCTCCCAGTACGAGAGGACGCTCAGCCCAGCACSGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAA
CGGACAGGTGACCTGCTCGCTGACSCCCCACGTTCCCTTCAAGCTGGTGTCCAYCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGC
GAGAACGTGTGGGCCTATGAACTGGTGGTGACTGCGCGGGATGGGGGTTCGCCTTCTCTGTGGGCCACGGCCAGGGTATCCGTGGAGGTGGCCGACGTGA
ACGACAATGCGCCTGCGTTCGCACAGCCCGAGTACACCGTGTTCGTGAAGGAGAACAACCCACCAGGCTGCCACATCTTCACAGTGTCGGCGCGGGACGC
GGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGACCGCGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGC
AAGGTGTACGCGCTGCAGCCGYTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGAGCAGCAACG
TGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGACTCAGGCTGGCAGCGCGGGAGGCGCAGTTAACAAGCTAGTACC
GCGGTCGGTGGGTGCGGGCCACGTGGTGGCGAAGGTGCGCKCAGTGGATGCGGACTCAGGCTACAACGCGTGGCTTTCATATGAATTGCAGCCGGCGGCG
GGCGGCTCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATAAGCACAACGCGTGCCCTGGACGAGGCAGACTCGCCGCGCCACCGACTTCTAG
TACTGGTGAAGGATCACGGTGAGCCGGCGCTGACGGCCACGGCCACCGTGCTGGTGTCRTTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGAC
TTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGATMATCGCCATCTGCGTGGTGTCCAGCCTCCTGGTACTCACGCTG
CTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGT
CATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGASGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAA
AGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGC
ATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAAC
CAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGG
TGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACC
TTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTG
ACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTA
CATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGG
TGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCG
CCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAG
TTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAA
AACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCC
ACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTG
CAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAAT
TCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTT
TCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGT
CTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACT
CTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCAC
TTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAA
TTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGAT
GTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTA
TTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTG
TTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCAT
CTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAA
GCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTG
TCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGT
CTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCA
GGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTA
CGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCC
ATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAAT
GAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:938):
MFGFQRRGLGTPRLQLWLLLLEFWEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVQRLFRVASKTHGDLLEVNLQNGILFVNSRIDREELCGQSA
ECSIHLEVIVDRPLQVFHVNVEVKDINDNPPVFSLREQKLLIAESKQSDSRFPLEGASDADIEENALLTYRLSKNEYFSLDSPTNGKQIKRLSLILKKSL
DREKTPELNLLLTATDGGKPELTGTVRLLVQVLDVNDNDPEFDKSEYKVSLMENAAKETLVLKLNATDRDEGVNGEVTYSLMSIKPNGRHLFTLDQNNGE
VRVNGTLDYEENKFYKIEVQATDKGTPPMAGHCTVWVEILDTNDNSPEVAVTSLSLPVREDAQPSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVSTF
KNYYSLVLDSALDRENVWAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRLGD
RALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLSSNVTLQVFVLDENDNAPALLATQAGSAGGAVNKLVPRSVGAGHVVAKVRAVDADS
GYNAWLSYELQPAAGGSRIPFRVGLYTGEISTTRALDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRTLAGAASPEAALVDVNVYLI
IAICVVSSLLVLTLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQPRQ
PNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQ
EPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4686):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  6003
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:938, None   



Context             (SEQ ID NO:4687):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  5108
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:938, None   



Context             (SEQ ID NO:4688):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  3512
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:938, 885, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4689):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  5661
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:938, None   



Context             (SEQ ID NO:4690):
GGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGACCGCGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCG
Y
TGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGAGCAGCAACGTGACGCTGCAGGTGTTCGTGCT
Celera SNP ID:            hCV8940101
SNP Position Transcript:  2422
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,15)   caucasian(C,24|T,14)   total(C,37|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 522, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 522, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4691):
CGTTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGACTTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGAT
M
ATCGCCATCTGCGTGGTGTCCAGCCTCCTGGTACTCACGCTGCTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGG
Celera SNP ID:            hCV25969704
SNP Position Transcript:  2958
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,29)   caucasian(C,24)   total(A,1|C,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 700, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:4692):
ACGGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGACGCCCCACGTTCCCTTCAAGCTGGTGTCCA
Y
CTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAACGTGTGGGCCTATGAACTGGTGGTGACTGCGCGGGATGGGGGTTCGCCT
Celera SNP ID:            hCV25961302
SNP Position Transcript:  2054
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,25|T,1)   total(C,55|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:938, 399, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:4693):
CAGTGAGGCACTTCCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGA
R
ACTGAAGAATCTGGTACTGTAAGTGTAAAGAAGCTTATTTTGGAAGCCAATTTCGTATGCGATGTTTGGTTTTCAGAGAAGGGGATTGGGCACCCCACGA
Celera SNP ID:            hCV25997327
SNP Position Transcript:  797
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,26)   total(A,57|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:938, None



Context             (SEQ ID NO:4694):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3722
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:938, None   



Context             (SEQ ID NO:4695):
TGGTAAATGCAGTGCACAGTACTCACAGTTTTAGGCGCAAGGTGTCGCTCTTTACTTGGTGGAAAGTTCATTTAAAGGTTGGTCTGAACAGTGAGGCACT
Y
CCATACAAAGGAACTCCATCATACCGGATGCCACCGTTTAAGGATCCTTTGAAACTTCTTAAGAATTCAACGAGATTTTTAACCTGAAACTGAAGAATCT
Celera SNP ID:            hCV8940105
SNP Position Transcript:  709
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)   Myers-Chimp(T,0|C,20)   Myers-TT(T,23|C,24)   total(C,44|T,23)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:938, None   



Context             (SEQ ID NO:4696):
TCCCAGTACGAGAGGACGCTCAGCCCAGCACGGTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGAC
S
CCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAACGTGTGGGCCTATGAACTGG
Celera SNP ID:            hCV25961232
SNP Position Transcript:  2025
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,29)   caucasian(C,1|G,25)   total(C,2|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 389, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4697):
GCCGGCACTGCTGGCGACTCAGGCTGGCAGCGCGGGAGGCGCAGTTAACAAGCTAGTACCGCGGTCGGTGGGTGCGGGCCACGTGGTGGCGAAGGTGCGC
K
CAGTGGATGCGGACTCAGGCTACAACGCGTGGCTTTCATATGAATTGCAGCCGGCGGCGGGCGGCTCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGG
Celera SNP ID:            hCV25970787
SNP Position Transcript:  2641
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,1)   caucasian(G,40)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:938, 595, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   caucasian(G,22)   total(G,47|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:938, 595, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:4698):
CCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGA
S
GGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAGCCACGA
Celera SNP ID:            hCV25957804
SNP Position Transcript:  3155
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,38)   total(C,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:938, 766, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:4699):
GAAGGGGATTGGGCACCCCACGACTACAGCTCTGGCTTCTCCTCCTCGAATTCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCGGAGGAGGC
Y
AAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAAAACACATGGGG
Celera SNP ID:            hCV25967452
SNP Position Transcript:  975
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,26)   total(C,57|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 39, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:4700):
GTACAGTCTGGGTGGAAATCTTGGACACCAACGATAACTCTCCTGAAGTCGCCGTGACTTCCTTGTCCCTCCCAGTACGAGAGGACGCTCAGCCCAGCAC
S
GTCATTGCCCTGATCAGCGTGTCTGACCGTGACTCAGGTGTCAACGGACAGGTGACCTGCTCGCTGACGCCCCACGTTCCCTTCAAGCTGGTGTCCACCT
Celera SNP ID:            hCV25972381
SNP Position Transcript:  1956
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(C,1|G,25)   total(C,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 366, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4701):
GTGCCCTGGACGAGGCAGACTCGCCGCGCCACCGACTTCTAGTACTGGTGAAGGATCACGGTGAGCCGGCGCTGACGGCCACGGCCACCGTGCTGGTGTC
R
TTGGTGGAGAGCGGACAGGCGCCAAAGGCCTCTTCCCGGACTTTGGCGGGCGCCGCGAGCCCAGAGGCTGCGCTGGTGGATGTCAACGTGTACCTGATCA
Celera SNP ID:            hCV25970325
SNP Position Transcript:  2859
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,1|G,23)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:938, 667, (S,TCA)   (S,TCG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348262 - 30000034447298
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913516 - 206000045673902
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35085000..35087531)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:242):
TCCCTGACTGTTGAATGATGGCGGACGCAGAAGAAATGGATTAATAAATTCCGGAACATACAGTATTTTATCTTTATGCGGAAGATCTTCTAATGGAAAT
AAAACCAGAGGTATTTGACATGGTGTTTACCCCGGAGGATAGATTGGGAAAGCAATGTCTGCTCCTCCCGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGG
AGCGGCCAGCTCCACTACTCCGTACCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGC
CGCGCCTGTTCAGGATGGCCTCCAAAGACCGCGAGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGA
GCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGRTGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAAC
GACAACCCGCCCTTGTTCCCGGTAGAGGAACAAAGAGTGCTGATTTACGAATCTAGGCTGCCAGATTCTGTGTTTCCACTGGAGGGCGCGTCCGATGCAG
ATGTTGGCTCAAATTCCATCTTAACCTATAAACTCAGTTCTAGCGAATACTTCGGGCTAGATGTGAAAATAAACAGTGATGACAATAAACAAATTGGGCT
CTTATTAAAGAAATCCTTGGACAGAGAGGAAGCTCCTGCACACAACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAYGCACTGTTCAG
CTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCSAACAGTCTGAATACGAAGTAAGAATATTCGAAAATGCAGACAACGGAACAACAG
TTATCAGACTGAATGCTTCTGATCGGGATGAAGGAGCGAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGCAGCCATGGTTATTGACCACTTTAG
CATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCAT
CCTRCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTMTCCTTGCCTGTACGTG
AAYACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTYCCAACGGGCAGGTGAACMGCTCGCTGACGCCTCACGTCCC
TTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGTTGGTGGTAACCGCG
CGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACATGAATGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACA
CAGTGTTCGTGAAGGAGAACRACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCT
GGTGGAGCGGCGGGTGGGCGAGCGCGCGTTGTCGMGCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTGMACGCGCTGCAGCCGCTGGACCACGAGGAG
CTAGAGCTGCTGCAGTTTCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTSCGTGCTGGACGAGAACGACA
ACGCGCCGGCGCTGCTGKCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCACTGGGTGCAGGCCAAGTGGTGGCGAAGGT
GCGCGCAGTGGACGCCGACTCAGGCTACAACGCGTGGCTTTCGRATGAGCTGCAGCCCCCGGCAAGCAGCGCTCGCTTCCCGTTTCGCGTGGGGCTGTAC
ACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGGCTGCTGGTGCTGGTGAAAGACCACGGTGAGCCGGCGCTGACAG
CGACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGTGGCCAGGCTCCAAAGGCGTCATCACGGGCGTCGGTGGGCGCCGCGGGCCCAGAGGCGGCGCTGGT
GGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTCCTCACGCTACTGCTGTACACAGCGCTGCGGTGCTCGGCGCCACCC
ACCGAGGGCGCGTGCACGGCGGACAAGCCCACGCTGGTGTGCTCCAGCGCAGTGGGGAGCTGGTCGTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCCG
GGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGA
TCATGATGCCAAAGTAAGTGAATTTTCATAA

Protein Sequence    (SEQ ID NO:939):
MEIKPEVFDMVFTPEDRLGKQCLLLPLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRMASKDREDLLEVNLQNGILFVNSRID
REELCGRSAECSIHLEVIVDRPLQVFHVDVEVRDINDNPPLFPVEEQRVLIYESRLPDSVFPLEGASDADVGSNSILTYKLSSSEYFGLDVKINSDDNKQ
IGLLLKKSLDREEAPAHNLFLTATDGGKPELTGTVQLLVTVLDVNDNAPTFEQSEYEVRIFENADNGTTVIRLNASDRDEGANGAISYSFNSLVAAMVID
HFSIDRNTGEIVIRGNLDFEQENLYKILIDATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVNCSLTP
HVPFKLVSTFKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASLSVEVADMNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVS
YSLVERRVGERALSSYISVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVSELVPRSLGAGQVV
AKVRAVDADSGYNAWLSYELQPPASSARFPFRVGLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRASVGAAGPEA
ALVDVNVYLIIAICAVSSLLVLTLLLYTALRCSAPPTEGACTADKPTLVCSSAVGSWSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDL
NEDHDAKVSEFS


SNP Information

Context             (SEQ ID NO:4702):
CCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGT
Y
CCAACGGGCAGGTGAACTGCTCGCTGACGCCTCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGA
Celera SNP ID:            hCV977306
SNP Position Transcript:  1260
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,26)   caucasian(C,2|T,38)   total(C,14|T,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 420, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 420, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4703):
CAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGT
S
CGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCACTGGGTGCA
Celera SNP ID:            hCV25627682
SNP Position Transcript:  1780
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,36)   total(C,65|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 594, (L,CTG)   (V,GTG)   



Context             (SEQ ID NO:4704):
CCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGCGCGTTGTCG
M
GCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGAGCGCGCGCGA
Celera SNP ID:            hCV25627674
SNP Position Transcript:  1635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,36)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 545, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4705):
TCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAA
Y
ACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAACTGCTCGCTGACGCCTCACGTCCCTTT
Celera SNP ID:            hCV26311958
SNP Position Transcript:  1203
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 401, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4706):
TCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTG
K
CGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCACTGGGTGCAGGCCAAGTGGTGGCGAAGGTGCGCGCAGTGGACGCCGA
Celera SNP ID:            hCV25627683
SNP Position Transcript:  1818
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,3)   caucasian(G,9|T,19)   total(G,38|T,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 606, (V,GTG)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,4)   caucasian(G,6|T,8)   total(G,24|T,12)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 606, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4707):
TTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAAC
M
GCTCGCTGACGCCTCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAGCGTGTCGGC
Celera SNP ID:            hCV25961281
SNP Position Transcript:  1278
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,27)   caucasian(C,24)   total(A,3|C,51)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 426, (R,AGA)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,17)   caucasian(A,17|C,23)   total(A,38|C,40)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 426, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4708):
GCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGCGCGTTGTCGAGCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTG
M
ACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCT
Celera SNP ID:            hCV25627675
SNP Position Transcript:  1671
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,35)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 557, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:4709):
CTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTC
S
AACAGTCTGAATACGAAGTAAGAATATTCGAAAATGCAGACAACGGAACAACAGTTATCAGACTGAATGCTTCTGATCGGGATGAAGGAGCGAATGGGGC
Celera SNP ID:            hCV26311959
SNP Position Transcript:  846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 282, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:4710):
GCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACATGAATGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACAGTGTTCGTGAAGGAGAAC
R
ACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGA
Celera SNP ID:            hCV25627684
SNP Position Transcript:  1521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,35)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 507, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4711):
GAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCG
R
TGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAACGACAACCCGCCCTTGTTCCCGGTAGAGGAACAAAGAGTGCTGATTTACGAATCTAGGCT
Celera SNP ID:            hCV25627692
SNP Position Transcript:  459
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,6)   total(A,35|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 153, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:4712):
AGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCT
R
CCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGA
Celera SNP ID:            hCV25962594
SNP Position Transcript:  1104
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,40)   total(A,72|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 368, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,5)   caucasian(A,24)   total(A,51|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 368, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4713):
CCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTT
M
TCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAACTGCTCGC
Celera SNP ID:            hCV977302
SNP Position Transcript:  1184
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,13)   caucasian(A,18|C,16)   total(A,35|C,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:939, 395, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:4714):
ACAAATTGGGCTCTTATTAAAGAAATCCTTGGACAGAGAGGAAGCTCCTGCACACAACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACA
Y
GCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAATGCAGACAA
Celera SNP ID:            hCV26311960
SNP Position Transcript:  789
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 263, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:4715):
TGCAGTGAGCGAGCTGGTGCCGCGGTCACTGGGTGCAGGCCAAGTGGTGGCGAAGGTGCGCGCAGTGGACGCCGACTCAGGCTACAACGCGTGGCTTTCG
R
ATGAGCTGCAGCCCCCGGCAAGCAGCGCTCGCTTCCCGTTTCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTC
Celera SNP ID:            hCV25631181
SNP Position Transcript:  1944
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,8)   caucasian(A,34)   total(A,60|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:939, 648, (E,GAA)   (E,GAG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255397 - 30000034447397
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894662 - 209000073752578
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35129501)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:243):
ATTRCAGACRGATATAGATTGCATTTKGAAAATCAACGAATGGATCTAAARTTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATA
GAAGGGAGCTACTGATCACTAAAAGTGAAGGAGGAAGCTCCATTTTGTCACCGCCTGAGAGAAGACAGAAACGGTAAAGAGATAAATGATTGGAAATATT
AGATAAAATGGCATGATTTTGAAGTAAGAGGAGAGCATAAGAAAGGTGTAGTCYTTTTGCAATGGTGTTTTCTAGGAGAGGGGGCCTGGGAGCCCGGGAT
CTGCTTCTTTGGCTTCTGCTCCTCGCAGCCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGCACCTTCGTTGGCC
GCGTTGCTCAGGACCTGGGACTGGAGCTGGCGGAGCTGGTGCCTCGCCTGTTCCGGGTGGCGTCCAAAACACACAGGGACCTTCTGGAGGTAAATCTGCA
GAATGGCATTTTGTTTGTGAATTCTCGGATCGATCGCGAGGAGCTGTGCCAGTGGAGCGCGGAGTGCAGCATCCACCTGGAGTTGATCGCCGACAGGCCG
CTGCAGGTTTTCCATGTGGAGGTGAAGGTGAAAGACATTAACGATAATCCACCCGTCTTCAGGGGCAGAGAACAAATAATATTTATTCCTGAATCTAGAC
TCCTGAATTCGCGTTTTCCGATAGAAGGAGCTGCTGATGCAGACATTGGTGCTAACGCTCTTCTAACGTACACGCTCAGCCCGAGTGATTATTTCTCTTT
GGATGTAGAGGCAAGTGATGAACTGAGTAAATCTCTTTGGCTTGAATTGAGAAAATATTTGGATAGAGAAGAAACACCAGAACTTCACTTATTACTGACT
GCCACTGATGGGGGCAAACCGGAGCTGCAAGGTACAGTTGAGCTGCTGATCACCGTCCTCGACGTTAATGATAACGCCCCACTGTTTGACCAGGCCGTAT
ACAGAGTCCACTTGTTAGAGACTACAGCAAATGGAACATTAGTGACCACATTAAATGCCTCTGATGCTGACGAAGGTGTAAATGGTGAAGTCGTCTTTTC
CTTTGACAGTGGTATTTCTCGTGACATTCAAGAAAAATTCAAAGTTGATTCCAGCTCAGGAGAAATTAGGTTAATTGATAAACTGGATTATGAAGAAACA
AAATCCTACGAAATTCAAGTAAAGGCAGTTGATAAAGGAAGTCCTCCGATGTCAAATCACTGTAAGGTTTTGGTGAAAGTGCTGGATGTAAATGATAATG
CTCCAGAACTGGCGGTCACTTCATTGTATTTGCCTATCRGAGAGGACGCTCCACTCAGCACCGTCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGG
TGCCAACGGGCAGGTGACTTGCTCCTTAATGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGTTGGACAGCGCCCTG
GATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTYCGCTGTGGGCCACGGCCAGGGTGTCCGTGGAGGTGGCCG
ACGTGMATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCG
GGACGCGGACGCGCAGGAGAACGCSCTGGTGTCCTATTCGCTGGTGGAACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAG
ARCGGCAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAGYTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCA
GCAACRTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCSGGCGCTGCTGGCGCCTCGAGTGGGTGGCACTATTGGTGCAGTCAGTGAGCT
GGTGCCGCGATTGGTGGGTGCGGGTCATGTGGTGGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTGTCCTATGAACTGCAGCCG
GCAGCAGGCGGCGCGCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACGACTCGTGTCCTGGACGAGGCTGACTTGTCGCGCTACCGCC
TTCTGGTGCTAGTGAAGGATCACGGTGAGCCGGCGCTGACAGCCACGGCCACTGTGCTTGTATCTCTGGTGGAGAGCGGCCAGGCGCCAAAGGCGTCTTC
GCGGGCGTCGGTGGGTGTCGCGGGCCCAGAGGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGCCTGCTGGTGCTC
ACACTGCTGCTGTACACGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGCRTRTGTGCCGGGCAAGCCCAYTCTGGTGTGCTCCAGCGCGTTGGGGA
GCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGTKCTCTAGCGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCAGGCCTATCTCCAAGTCT
TAACACGTCAGAAAGAAATGAACAACCAGAAGCAAATTTGGATCTTTCTGGTAATCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGA
GCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACAC
CAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGG
TCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTC
ATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACA
ACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCC
TATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAA
GTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCA
GCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCT
TGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGG
CAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTG
GCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCA
TACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATT
AAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTT
GTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAA
TTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGC
TTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTAT
GTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATC
TACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACC
TATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATG
CAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAA
CCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAG
AGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGT
GTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAAT
TTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGT
AGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGC
TCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTG
ACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTC
CAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTA
ATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:940):
MVFSRRGGLGARDLLLWLLLLAAWEVGSGQLHYSIPEEAKHGTFVGRVAQDLGLELAELVPRLFRVASKTHRDLLEVNLQNGILFVNSRIDREELCQWSA
ECSIHLELIADRPLQVFHVEVKVKDINDNPPVFRGREQIIFIPESRLLNSRFPIEGAADADIGANALLTYTLSPSDYFSLDVEASDELSKSLWLELRKYL
DREETPELHLLLTATDGGKPELQGTVELLITVLDVNDNAPLFDQAVYRVHLLETTANGTLVTTLNASDADEGVNGEVVFSFDSGISRDIQEKFKVDSSSG
EIRLIDKLDYEETKSYEIQVKAVDKGSPPMSNHCKVLVKVLDVNDNAPELAVTSLYLPIREDAPLSTVIALITVSDRDSGANGQVTCSLMPHVPFKLVST
FKNYYSLVLDSALDRESLSVYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVG
ERALSNYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTIGAVSELVPRLVGAGHVVAKVRAVDAD
SGYNAWLSYELQPAAGGARIPFRVGLYTGEISTTRVLDEADLSRYRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRASVGVAGPEAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSVPPTEGACVPGKPTLVCSSALGSWSNSQQRRQRVFSSEGPPKTDLMAFSPGLSPSLNTSERNEQPEANLDLSGNPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4716):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5409
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4717):
CTTCAAGAATTACTACTCGTTGGTGTTGGACAGCGCCCTGGATCGCGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCT
Y
CGCTGTGGGCCACGGCCAGGGTGTCCGTGGAGGTGGCCGACGTGAATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAA
Celera SNP ID:            hCV25638140
SNP Position Transcript:  1561
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,30)   caucasian(T,38)   total(C,2|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 434, (P,CCG)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 434, (P,CCG)   (S,TCG)   



Context             (SEQ ID NO:4718):
TTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGC
S
GGCGCTGCTGGCGCCTCGAGTGGGTGGCACTATTGGTGCAGTCAGTGAGCTGGTGCCGCGATTGGTGGGTGCGGGTCATGTGGTGGCGAAGGTGCGCGCA
Celera SNP ID:            hCV25638141
SNP Position Transcript:  1949
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 563, (P,CCG)   (R,CGG)   



Context             (SEQ ID NO:4719):
TGCGCGGTGTCCAGCCTGCTGGTGCTCACACTGCTGCTGTACACGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGCGTGTGTGCCGGGCAAGCCCA
Y
TCTGGTGTGCTCCAGCGCGTTGGGGAGCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGTTCTCTAGCGAGGGCCCACCCAAGACCGACCTCATGGCC
Celera SNP ID:            hCV25638133
SNP Position Transcript:  2474
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 738, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:4720):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  5067
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4721):
TGTACCTGATCATCGCCATCTGCGCGGTGTCCAGCCTGCTGGTGCTCACACTGCTGCTGTACACGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGC
R
TGTGTGCCGGGCAAGCCCACTCTGGTGTGCTCCAGCGCGTTGGGGAGCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGTTCTCTAGCGAGGGCCCAC
Celera SNP ID:            hCV25638134
SNP Position Transcript:  2454
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:940, 731, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:4722):
AAGTCCTCCGATGTCAAATCACTGTAAGGTTTTGGTGAAAGTGCTGGATGTAAATGATAATGCTCCAGAACTGGCGGTCACTTCATTGTATTTGCCTATC
R
GAGAGGACGCTCCACTCAGCACCGTCATCGCCCTCATCACCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACTTGCTCCTTAATGCCCCACGT
Celera SNP ID:            hCV25638142
SNP Position Transcript:  1339
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,38)   total(A,70|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 360, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:4723):
CCTGAGAGAAGACAGAAACGGTAAAGAGATAAATGATTGGAAATATTAGATAAAATGGCATGATTTTGAAGTAAGAGGAGAGCATAAGAAAGGTGTAGTC
Y
TTTTGCAATGGTGTTTTCTAGGAGAGGGGGCCTGGGAGCCCGGGATCTGCTTCTTTGGCTTCTGCTCCTCGCAGCCTGGGAGGTGGGGAGCGGCCAGCTC
Celera SNP ID:            hCV25638143
SNP Position Transcript:  254
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,36)   total(C,69|T,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None



Context             (SEQ ID NO:4724):
CAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAGTTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGCAAC
R
TGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGAGTGGGTGGCACTATTGGTGCAGTCAGTGAGCTGGTGCC
Celera SNP ID:            hCV25638136
SNP Position Transcript:  1906
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 549, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:4725):
ACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAG
Y
TGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCC
Celera SNP ID:            hCV25638137
SNP Position Transcript:  1849
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,24|T,14)   total(C,40|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:940, 530, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,526|C,573)   total(C,573|T,526) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:940, 530, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4726):
TCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCGGACGCGCAGGAGAACGC
S
CTGGTGTCCTATTCGCTGGTGGAACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCACTGCAGC
Celera SNP ID:            hCV25638138
SNP Position Transcript:  1725
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:940, 488, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:4727):
CGAGAGCCTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGGGTGTCCGTGGAGGTGGCCGACGTG
M
ATGACAACGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGC
Celera SNP ID:            hCV25638139
SNP Position Transcript:  1606
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|C,1)   total(A,75|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 449, (N,AAT)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,15|A,1472)   total(A,1472|C,15) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 449, (N,AAT)   (H,CAT)      



Context             (SEQ ID NO:4728):
TACCTGATCATCGCCATCTGCGCGGTGTCCAGCCTGCTGGTGCTCACACTGCTGCTGTACACGGCGCTGCGGTGCTCAGTGCCGCCCACTGAGGGTGCGT
R
TGTGCCGGGCAAGCCCACTCTGGTGTGCTCCAGCGCGTTGGGGAGCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGTTCTCTAGCGAGGGCCCACCC
Celera SNP ID:            hCV15871608
SNP Position Transcript:  2456
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,22)   caucasian(A,23|G,15)   total(A,39|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 732, (Y,TAT)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,706|A,787)   total(G,706|A,787) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 732, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:4729):
ATTGCAGAC
R
GATATAGATTGCATTTTGAAAATCAACGAATGGATCTAAAATTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATAGAAGGGAGCT
Celera SNP ID:            hCV27496636
SNP Position Transcript:  10
SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,14)   caucasian(A,15|G,21)   total(A,35|G,35)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None

SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,14)   caucasian(A,16|G,20)   total(A,36|G,34)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Ghimp(A,0|G,20)   Myers-AA(G,24|A,24)   total(G,44|A,24)no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4730):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4514
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4731):
GACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTATTCGCTGGTGGAACGGCGGGTGGGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAGA
R
CGGCAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAGTTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGC
Celera SNP ID:            hCV27509391
SNP Position Transcript:  1802
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 514, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:4732):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2918
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 886, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4733):
ATTGCAGACAGATATAGATTGCATTT
K
GAAAATCAACGAATGGATCTAAAATTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATAGAAGGGAGCTACTGATCACTAAAAGTG
Celera SNP ID:            hCV27969130
SNP Position Transcript:  27
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(G,0|T,20)   Myers-AT(G,0|T,48)   total(T,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4734):
ATT
R
CAGACAGATATAGATTGCATTTTGAAAATCAACGAATGGATCTAAAATTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATAGAAG
Celera SNP ID:            hCV27836222
SNP Position Transcript:  4
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(G,38)   total(A,5|G,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(G,36)   total(A,5|G,65)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(A,0|G,20)   Myers-AT(A,0|G,48)   total(G,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4735):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3128
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4736):
ATTGCAGACAGATATAGATTGCATTTTGAAAATCAACGAATGGATCTAAA
R
TTTACATTGGCCACATGATGTCGCTGTACACCACAAAGTCTTGTCAATAGAAGGGAGCTACTGATCACTAAAAGTGAAGGAGGAAGCTCCATTTTGTCAC
Celera SNP ID:            hCV27969129
SNP Position Transcript:  51
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(G,0|A,20)   Myers-AT(G,0|A,48)   total(A,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:940, None   



Context             (SEQ ID NO:4737):
CCGCCCACTGAGGGTGCGTGTGTGCCGGGCAAGCCCACTCTGGTGTGCTCCAGCGCGTTGGGGAGCTGGTCGAACTCACAGCAGAGGCGGCAGAGGGTGT
K
CTCTAGCGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCAGGCCTATCTCCAAGTCTTAACACGTCAGAAAGAAATGAACAACCAGAAGCAAAT
Celera SNP ID:            hCV15871598
SNP Position Transcript:  2537
SNP Source:               Applera
Population(Allele,Count): african american(G,16|T,22)   caucasian(G,25|T,15)   total(G,41|T,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 759, (C,TGC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:940, 759, (C,TGC)   (F,TTC)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348268 - 30000034447398
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913510 - 206000045673865
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34946101..34949311)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:244):
CAGACTAATCTCCTTAAAGACCCGTTAAGCAGGGGAGAGACGGTRGAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCT
GCGGTCCGCTGGGATCWGGCAGGTCCAGGGTGAAGGAGATGGGGCTGGAGAGGCTGAGCAGTCCGGGTTCGCTGTCCGCCACTTCGGCGCGGAATCAGAG
CAGGACTTGCTGAGCCCTCCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCTYCCCCTGGAGCTGTAGCGGCAGCAGCA
GCAGGAAGCCGAGCCGGGMTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAYTCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCC
TACGGAGGGAGCGGCCCCAGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGGTGGCACGAGCGGAGGCGGGGCCCGGGCGTGGGGCACGGC
TGGGGAAGCTGCCGCCTCSGGCCCTGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGG
CTCCGGCGGCCCATGCCCTGGCTGSTGCTACTGCCTCTCCTGCTWCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGC
CYGAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCGCGCTGGGGCTTGAGCTGCGGCGCTTGGGGCCGGGTTGCTTGCGCATCAACCATCT
GGGTGCGCCCAGTCCGCGCTACCTGGAGCTGGACCTGACGAGTGGAGCGCTCTTCGTCAACGAGCGCATTGATCGGGAGGCGCTGTGTGAGCAGCGGCCT
CGCTGCCTGCTCAGCTTGGAAGTGCTGGCGCACAACCCCGTGGCGGTGAGCGCCGTTGAGGTGGAAATATTGGACATCAACGACAACTCACCGCGTTTCC
CGCGGCCCAACTACCAGCTTCAGGTAAGCGAATCGGTGGCGCCTGGYGCGCGCTTTCACATAGAGAGTGCGCAGGACCCCGACGTGGGCGCCAACTCAGT
ACAGACCTACGAGCTCAGCCCCAGCGAGCACTTCGAGCTGGACCTTAAGCCCCTGCAGGAGAACAGTAAAGTGCTTGAGCTGGTGCTGCGTAAGGGCCTA
GACCGGGAGCAGGCAGCCTTGCACCACCTGGTTCTCACAGCCGTGGATGGGGGCATCCCAGCCCGCTCGGGTACGGCACAGATCTCTGTGCGTGTCCTGG
ACACTAACGACAACTCTCCTGCCTTTGACCAGTCCACTTATCGCGTCCAGCTACGGGAGGACTCACCCCCAGGCACATTGGTGGTGAAGCTGAATGCCTC
AGACCCGGATGAGGGCTCCAATGGTGAGCTCAGGTACTCCTTGAGCAGCTACACGTCGGACCGGGAGAGGCAGCTCTTCAGCATAGATGCCAGTACCGGG
GAAGTGCGAGTAATTGGGGGYCTGGATTATGAGGAAGCCTCCTCCTACCAGATCTATGTGCAGGCGACTGACCGGGGTCCAGTGCCCATGGCAGGTCACT
GCAAGGTGCTGGTGGACATCGTGGACGTGAATGACAATGCCCCAGAGGTGGTGCTCACGGACCTGTATAGCCCAGTGCCTGAGAATGCTACACCCAACAC
CATTGTGGCCGTTCTCAGTGTCAATGACCAAGACTCAGGCCCCAACCGGAAAGTGAGCCTGGGTCTGGAGGCCACACTGCCTTTCCGACTGAATGGCTTT
GGAAACTCCTATACACTGGTGGTGAGCGGCCCACTGGACCGAGAGCGGGTGGCTGTCTACAACATCACGGTGACAGCCACAGATGGGGGAATACCGCAGC
TCACATCCCTGCGTACACTGAAGGTTGAGATCTCTGACATCAATGACAATCCACCAAGCTTCCTGGAGGACTCCTATTCCATCTACATACAGGAGAACAA
TTTGCCAGGTGTGTTGCTCTGTACTGTGCAAGCCACAGACCCAGATGAAAAGGAGAATGCAGAGGTGACCTACTCCCTTCTGGAGAGGGAGATTCAAGGG
CTGCCAGTCACCTCCTATGTCTCCATTAACAGTGCCAGTGGCAGCCTTTATGCTGTCAACTCCTTTGACTATGAGAAGTTTCGGGAGTTCTTTGTGACTG
TGGAGGCRCAGGACAAGGGGAGCCCACCACTGAGCAGCACTGTGACTGCCAACGTATATGTGGTGGACATGAATGACCATGCCCCTCACATTCTGTACCC
TACCTCAACCAACTCGTCAGCAGCCTTCGAGATGGTGCCTCGAACTGCCCCTGCTGGCTACCTGGTCACCAAAGTCATAGCTATGGACTCAGACTCTGGG
CAAAATGCTTGGCTTTTTTACCATCTAGCCCAGACTTCTGACCTGGACCTCTTTAAGGTAGAGCTGCACACAGGAGAAATTAGGACTACCAGGAAGATGG
GAGATGAGAGTGGTAGCACTTTCAACCTGACCGTGGTGGTCCGAGATAATGGAGAGCCATCACTATCAGCCTCTGTGGCCATTACAGTAGCTGTGGTGGA
TAGGGTTTCCAAAATCCTCCCTGACACTCAGAGGCATGTTAAGAGCCCTCGGACATACTCTGAAATTACCCTTTATCTAATAATAGCATTAAGCACAGTG
TCTTTTATATTTCTTTTGACAATCATCATTTTGAGCATCATCAAGTGCTACCGCTACACTGCGTATGGCACTGCATGCTGTGGAGGCTTCTGTGGAGTAA
GGGAAAGGTCCCCTGCAGAACTGTACAAACAAGCCAACAACAATATTGATGCCAGGATACCGCATGGCCTCAAAGTGCAGCCTCACTTCATTGAAGTTCG
AGGGAATGGCTCCCTCACCAAGACCTACTGCTACAAGGCCTGTCTGACAGCAGGCTCAGGGAGTGACACTTTCATGTTTTACAATACAGGGGCCCAGACA
GGACCAGGGCCTTCGGGAGCCCAAGCAGCAGTGACTGACAGCAGGAATCTCACAGGCCAAAGTGGTCAGAATGCTGGGAACCTGATTATTCTCAAAAATG
AGGCTGTTTCTCAAAATGAGGTGAGACAGTGGTCAGGGGGTCTTCTACAAACTCATGCATTTGTTACACATCCCCCAATATCCTGTGATTTGGCTTTATT
GAGTCATTAA

Protein Sequence    (SEQ ID NO:941):
MEQAGTRPAATEHPRLRRPMPWLLLLPLLLLLLLLLPGPAASQLRYSVPEEQAPGALVGNVARALGLELRRLGPGCLRINHLGAPSPRYLELDLTSGALF
VNERIDREALCEQRPRCLLSLEVLAHNPVAVSAVEVEILDINDNSPRFPRPNYQLQVSESVAPGARFHIESAQDPDVGANSVQTYELSPSEHFELDLKPL
QENSKVLELVLRKGLDREQAALHHLVLTAVDGGIPARSGTAQISVRVLDTNDNSPAFDQSTYRVQLREDSPPGTLVVKLNASDPDEGSNGELRYSLSSYT
SDRERQLFSIDASTGEVRVIGGLDYEEASSYQIYVQATDRGPVPMAGHCKVLVDIVDVNDNAPEVVLTDLYSPVPENATPNTIVAVLSVNDQDSGPNRKV
SLGLEATLPFRLNGFGNSYTLVVSGPLDRERVAVYNITVTATDGGIPQLTSLRTLKVEISDINDNPPSFLEDSYSIYIQENNLPGVLLCTVQATDPDEKE
NAEVTYSLLEREIQGLPVTSYVSINSASGSLYAVNSFDYEKFREFFVTVEAQDKGSPPLSSTVTANVYVVDMNDHAPHILYPTSTNSSAAFEMVPRTAPA
GYLVTKVIAMDSDSGQNAWLFYHLAQTSDLDLFKVELHTGEIRTTRKMGDESGSTFNLTVVVRDNGEPSLSASVAITVAVVDRVSKILPDTQRHVKSPRT
YSEITLYLIIALSTVSFIFLLTIIILSIIKCYRYTAYGTACCGGFCGVRERSPAELYKQANNNIDARIPHGLKVQPHFIEVRGNGSLTKTYCYKACLTAG
SGSDTFMFYNTGAQTGPGPSGAQAAVTDSRNLTGQSGQNAGNLIILKNEAVSQNEVRQWSGGLLQTHAFVTHPPISCDLALLSH


SNP Information

Context             (SEQ ID NO:4738):
AGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGGTGGCACGAGCGGAGGCGGGGCCCGGGCGTGGGGCACGGCTGGGGAAGCTGCCGCCTC
S
GGCCCTGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCT
Celera SNP ID:            hCV25991046
SNP Position Transcript:  519
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(C,2|G,10)   total(C,2|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:941, 173, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:4739):
TCCGGCGGCCCATGCCCTGGCTGCTGCTACTGCCTCTCCTGCTGCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCC
Y
GAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCGCGCTGGGGCTTGAGCTGCGGCGCTTGGGGCCGGGTTGCTTGCGCATCAACCATCTGG
Celera SNP ID:            hCV3297616
SNP Position Transcript:  702
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,19|T,5)   total(C,48|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 234, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 234, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:4740):
ATGGTGAGCTCAGGTACTCCTTGAGCAGCTACACGTCGGACCGGGAGAGGCAGCTCTTCAGCATAGATGCCAGTACCGGGGAAGTGCGAGTAATTGGGGG
Y
CTGGATTATGAGGAAGCCTCCTCCTACCAGATCTATGTGCAGGCGACTGACCGGGGTCCAGTGCCCATGGCAGGTCACTGCAAGGTGCTGGTGGACATCG
Celera SNP ID:            hCV29063534
SNP Position Transcript:  1521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 507, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:4741):
CAGACTAATCTCCTTAAAGACCCGTTAAGCAGGGGAGAGACGGT
R
GAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCTGCGGTCCGCTGGGATCCGGCAGGTCCAGGGTGAAGGAGATGGGGC
Celera SNP ID:            hCV25970751
SNP Position Transcript:  45
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 15, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4742):
GGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCTGGCTGCTGCTACTGCCTCTCCTGCT
W
CTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCCAGAGGAGCAGGCACCCGGCGCGCTCGTGGGCAACGTGGCTCGCG
Celera SNP ID:            hCV25991842
SNP Position Transcript:  645
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,26)   total(A,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 215, (L,CTA)   (L,CTT)   



Context             (SEQ ID NO:4743):
AAGACCCGTTAAGCAGGGGAGAGACGGTGGAGACTGGATGAACTGGACAGTGGGGGTAGGGAGAAAGGGAGTGGCCGTGTTCCTGCGGTCCGCTGGGATC
W
GGCAGGTCCAGGGTGAAGGAGATGGGGCTGGAGAGGCTGAGCAGTCCGGGTTCGCTGTCCGCCACTTCGGCGCGGAATCAGAGCAGGACTTGCTGAGCCC
Celera SNP ID:            hCV2417210
SNP Position Transcript:  117
SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,9)   caucasian(A,16|T,22)   total(A,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 39, (P,CCA)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,24|T,6)   caucasian(A,11|T,17)   total(A,35|T,23)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 39, (P,CCA)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)   JBIC-allele(T,661|A,826)   total(A,826|T,661)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 39, (P,CCA)   (P,CCT)      



Context             (SEQ ID NO:4744):
CCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCTCCCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGG
M
TGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAGTCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCCTACGGAGGGAGCGGCCCCA
Celera SNP ID:            hCV2417211
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,30)   caucasian(C,26)   total(A,2|C,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 107, (R,AGG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 107, (R,AGG)   (R,CGG)      



Context             (SEQ ID NO:4745):
GTCCGCCACTTCGGCGCGGAATCAGAGCAGGACTTGCTGAGCCCTCCTACCGCTCCCTTTCCCCCTCCCCCTCTGTCTTCCCTTCTGTTTCCTTTTCCCT
Y
CCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGGTTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGAGTCAGCGAGGACGG
Celera SNP ID:            hCV8939944
SNP Position Transcript:  274
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,10)      total(C,10|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 92, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4746):
TGAGCGCCGTTGAGGTGGAAATATTGGACATCAACGACAACTCACCGCGTTTCCCGCGGCCCAACTACCAGCTTCAGGTAAGCGAATCGGTGGCGCCTGG
Y
GCGCGCTTTCACATAGAGAGTGCGCAGGACCCCGACGTGGGCGCCAACTCAGTACAGACCTACGAGCTCAGCCCCAGCGAGCACTTCGAGCTGGACCTTA
Celera SNP ID:            hCV25996790
SNP Position Transcript:  1047
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,7|T,1)   total(C,38|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 349, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:4747):
TCACCTCCTATGTCTCCATTAACAGTGCCAGTGGCAGCCTTTATGCTGTCAACTCCTTTGACTATGAGAAGTTTCGGGAGTTCTTTGTGACTGTGGAGGC
R
CAGGACAAGGGGAGCCCACCACTGAGCAGCACTGTGACTGCCAACGTATATGTGGTGGACATGAATGACCATGCCCCTCACATTCTGTACCCTACCTCAA
Celera SNP ID:            hCV25991084
SNP Position Transcript:  2208
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,14)   total(A,1|G,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 736, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:4748):
TTTCCTTTTCCCTCCCCCTGGAGCTGTAGCGGCAGCAGCAGCAGGAAGCCGAGCCGGGTTGAGCGACTCGGAGGCGAGCGGAGGAGCTGGAATATGGGGA
Y
TCAGCGAGGACGGTGGGGCCAGGAGCCCTTGGGAGGGCCTACGGAGGGAGCGGCCCCAGGCGCTTTCTAGAGCGTGAGCGGTGGGGGAGCAGGCGCAGGG
Celera SNP ID:            hCV2417212
SNP Position Transcript:  361
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,23)   caucasian(C,1|T,13)   total(C,4|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 121, (L,CTG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:941, 121, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:4749):
TGCCCGGCTGCCTCCGCCGCGGCCAGTGGCTATGGAGCAGGCGGGCACCAGACCTGCGGCGACAGAGCATCCACGGCTCCGGCGGCCCATGCCCTGGCTG
S
TGCTACTGCCTCTCCTGCTGCTGTTGCTGCTGCTGCTACCTGGCCCTGCGGCCTCCCAGCTGCGATACTCTGTGCCAGAGGAGCAGGCACCCGGCGCGCT
Celera SNP ID:            hCV25991787
SNP Position Transcript:  625
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,20)   total(C,56|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:941, 209, (L,CTG)   (V,GTG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255416 - 30000034447302
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894627 - 209000073752480
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35067730)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:245):
CTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGA
CATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGC
CATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTT
ATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGC
AAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAA
ATATGTACTTACACTTTGGRCCACGTGATGTCACTCTTTGSCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCA
ATTCTTTTTCACTCTYTCTGTGCTGAACGATGGCKAACACAGMAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAA
TTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGG
TGGGGAGMGGCCAGCTCCACTACTCSGTCCCSGAGGARGCCRAACAYGGCAMCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCT
GGTGCCGCGCCTGTTSCAGTTGGATTSCAAAKGCCGYGGGGAYCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGC
GAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTRGAMAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACA
TTAACGACAACCCTCCRGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGA
TGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTT
GGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGYCACCGATGGAGGCAAACCCGAGCTGACTGGCACCG
TTCAATTACTCATCACGGTACTGGACAACAATGACAAYGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAAC
GCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAG
TTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAG
GCTTCCCACCCCTGGCTGGTCATTGTACASTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTATCAAAACGCTCTCGGTTCCTGT
AAAAGAGGACGCACAACTGGGGACAGTTATTGCCCTGATTAGTGTGATCGACCTAGACGCAGATGCCAACGGGCAGGTKACCTGCTCCCTGACGCCCCAC
GTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCYCTGGACCGCGAGAGTGTGTCCGCCTAYGAGCTGGTGGTTA
CCGCGCGGGACSGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGA
GTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACKGTGTCTGCGCGGGACGCKGACGCGCAGGAGAACGCCCTGGTGTCCTAC
TCGCTGGTGGAGCGGCGGKTGGGCSAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACG
AGGAGCTGGAGCTGCTACAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAA
CGACAATGCGCCGGCGCTGCTGACACCTCGGATGAGGGGCACTGACGGCGCAGTGAGCGAGATGGTGCTGCGGTCGGTGGGCGCCGGCGTAGTGGTGGGG
AAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCATACGAGCTGCAGCCAGAAACSGCCAGCGCGAGCATCCCGTTCCGCGTGGGGC
TGTACACGGGCGAGATCAGCACAACGCGTGCCCTGGACGAAACGGACGCACCGCGCCAGCGCCTACTGGTGCTGGTGAAAGACCACGGGGAGCCAGCGCT
GACGGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGCGGCCAGGCGCCAAAGTCATCGTCGCRGGCGTCAGTGGGTGCCACGGGCCCCGAGGTGACG
CTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCTAGCCTGTTGGTTCTCACGCTGCTGCTGTACACTGTGCTGCGGTGCTCGGCGA
TGCCCACCGAGGGCGAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTG
CTCTGGCGAGGGTMMGCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCC
TCAGATTCAACTGGGAAGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTG
GCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGG
TGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGA
TCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGA
AGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCA
CTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTG
CAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTT
TTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGC
TCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGC
GGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCA
GTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGA
CAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAA
CCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCA
GATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCT
ATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTAC
AGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCA
TGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATA
TATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTAC
ACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGC
TGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTT
GAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGT
AAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAAT
GGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAA
GTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTA
TAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAA
AAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACA
CATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAA
TTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGG
ATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:942):
MLYSSRGDPEGQPLLLSLLILAMWVVGSGQLHYSVPEEAEHGTFVGRIAQDLGLELAELVPRLFQLDSKGRGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLL
DREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAPVFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTVLVEVVDVNDNAPQLTIKTLSVPVKEDAQLGTVIALISVIDLDADANGQVTCSLTPHVPFKLVST
YKNYYSLVLDRALDRESVSAYELVVTARDRGSPSLWATARVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRLG
ERSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLTPRMRGTDGAVSEMVLRSVGAGVVVGKVRAVDAD
SGYNAWLSYELQPETASASIPFRVGLYTGEISTTRALDETDAPRQRLLVLVKDHGEPALTATATVLVSLVESGQAPKSSSRASVGATGPEVTLVDVNVYL
IIAICAVSSLLVLTLLLYTVLRCSAMPTEGECAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEGPQKTDLMAFSPGLSPCAGSTERTGEPSASSDSTGKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4750):
CAGATGCCAACGGGCAGGTTACCTGCTCCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGC
Y
CTGGACCGCGAGAGTGTGTCCGCCTACGAGCTGGTGGTTACCGCGCGGGACCGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGG
Celera SNP ID:            hCV25970122
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,27)   caucasian(T,26)   total(C,9|T,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 412, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 412, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:4751):
AGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCC
R
AACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGA
Celera SNP ID:            hCV25968789
SNP Position Transcript:  842
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,31)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 40, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4752):
GAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGGCGAGGGTC
M
GCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCCTCAGATTCAACTGGG
Celera SNP ID:            hCV26311941
SNP Position Transcript:  3015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 764, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:4753):
GCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGTCCGCCTACGAGCTGGTGGTTACCGCGCGGGAC
S
GGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTT
Celera SNP ID:            hCV3163193
SNP Position Transcript:  2012
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,28)   caucasian(C,24|G,8)   total(C,34|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 430, (R,CGG)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,3)      total(G,3|C,3) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 430, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:4754):
ACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGC
K
GACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCA
Celera SNP ID:            hCV26311943
SNP Position Transcript:  2170
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 482, (A,GCT)   (A,GCG)      482, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:4755):
CCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGTCCGCCTA
Y
GAGCTGGTGGTTACCGCGCGGGACCGGGGCTCGCCTTCACTGTGGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCACCAGCGT
Celera SNP ID:            hCV25970071
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,20)   total(C,52|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 421, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:4756):
GACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGG
Y
CACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTAT
Celera SNP ID:            hCV26311945
SNP Position Transcript:  1365
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 214, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:4757):
GCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAG
M
AGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAG
Celera SNP ID:            hCV27917773
SNP Position Transcript:  643
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(A,0|C,20)   Myers-AT(A,0|C,48)   total(C,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4758):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4977
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4759):
TCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGC
K
AACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTC
Celera SNP ID:            hCV27917774
SNP Position Transcript:  635
SNP Source:               dbSNP
Population(Allele,Count): Pcdh-Pygmy(T,3|G,39)   Myers-Chimp(G,0|T,20)   Myers-AT(G,0|T,48)   total(G,39|T,71) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4760):
TTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCT
Y
TCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAG
Celera SNP ID:            hCV27917775
SNP Position Transcript:  616
SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(T,0|C,20)   Myers-AT(T,0|C,48)   total(C,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4761):
GAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTG
S
CGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACA
Celera SNP ID:            hCV27917776
SNP Position Transcript:  541
SNP Source:               dbSNP
Population(Allele,Count): Pcdh-Pygmy(G,1|C,41)   total(G,1|C,41) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4762):
TGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTC
S
GTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATT
Celera SNP ID:            hCV25968821
SNP Position Transcript:  826
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,29|G,1)   total(C,63|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 34, (S,TCC)   (S,TCG)   



Context             (SEQ ID NO:4763):
CTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAA
Y
GCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAG
Celera SNP ID:            hCV25991250
SNP Position Transcript:  1438
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,24)   total(C,1|T,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 238, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:4764):
GAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCA
M
CTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAG
Celera SNP ID:            hCV25968773
SNP Position Transcript:  852
SNP Source:               Applera
Population(Allele,Count): african american(C,28)   caucasian(A,1|C,31)   total(A,1|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 43, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:4765):
TCAAAACGCTCTCGGTTCCTGTAAAAGAGGACGCACAACTGGGGACAGTTATTGCCCTGATTAGTGTGATCGACCTAGACGCAGATGCCAACGGGCAGGT
K
ACCTGCTCCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGT
Celera SNP ID:            hCV25996823
SNP Position Transcript:  1879
SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(G,1|T,17)   total(G,1|T,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 385, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4766):
TAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGT
R
GACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGG
Celera SNP ID:            hCV25967599
SNP Position Transcript:  1054
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,15|G,13)   total(A,49|G,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 110, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4767):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5872
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4768):
AAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAG
M
GGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGC
Celera SNP ID:            hCV8940153
SNP Position Transcript:  808
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,19)   caucasian(A,27|C,3)   total(A,34|C,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 28, (R,AGA)   (S,AGC)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(A,11|C,12)   SC_12_C(A,11|C,12)   SC_12_AA(A,6|C,18)   total(C,42|A,28)no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 28, (S,AGC)   (R,AGA)      28, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:4769):
ATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACA
Y
GGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTC
Celera SNP ID:            hCV25968776
SNP Position Transcript:  847
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|T,1)   total(C,61|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 41, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:4770):
GTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGA
R
GCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCG
Celera SNP ID:            hCV25968792
SNP Position Transcript:  838
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,31|G,1)   total(A,65|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 38, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:4771):
CGAGTGCGCGCCTGGCAAGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGGCGAGGGT
M
CGCAGAAGACCGACCTCATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAACGGGAGAACCCTCTGCTTCCTCAGATTCAACTGG
Celera SNP ID:            hCV8940138
SNP Position Transcript:  3014
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(A,1|C,23)   total(A,1|C,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 764, (T,ACG)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 764, (T,ACG)   (P,CCG)      



Context             (SEQ ID NO:4772):
GTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGG
R
CCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTG
Celera SNP ID:            hCV8940154
SNP Position Transcript:  520
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;Pcdh-Pygmy(G,21|A,21)   Myers-Ghimp(A,0|G,20)   total(G,41|A,21)no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4773):
CAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGC
S
AGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCA
Celera SNP ID:            hCV25961023
SNP Position Transcript:  2225
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,27)   caucasian(G,38)   total(C,9|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 501, (Q,CAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,19)   caucasian(G,4)   total(C,7|G,23)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 501, (Q,CAG)   (E,GAG)   



Context             (SEQ ID NO:4774):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  5530
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4775):
GGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCC
R
GTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGA
Celera SNP ID:            hCV11157872
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,10)   caucasian(A,15|G,1)   total(A,25|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 131, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 131, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4776):
TGGAGGTGGCCGACGTGAACGACAACGCACCAGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCAC
K
GTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAG
Celera SNP ID:            hCV25968867
SNP Position Transcript:  2152
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,38)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 476, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:4777):
AAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCG
Y
GGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCC
Celera SNP ID:            hCV25968230
SNP Position Transcript:  937
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 71, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:4778):
AACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGA
Y
CTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGG
Celera SNP ID:            hCV11157873
SNP Position Transcript:  943
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|T,1)   total(C,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 73, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 73, (D,GAT)   (D,GAC)      73, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:4779):
GGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAA
K
GCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAG
Celera SNP ID:            hCV25968253
SNP Position Transcript:  932
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(G,31|T,1)   total(G,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 70, (G,GGC)   (C,TGC)   



Context             (SEQ ID NO:4780):
TGCGGTCGGTGGGCGCCGGCGTAGTGGTGGGGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCATACGAGCTGCAGCCAGAAAC
S
GCCAGCGCGAGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACAACGCGTGCCCTGGACGAAACGGACGCACCGCGCCAGCGCCTACTGG
Celera SNP ID:            hCV25971403
SNP Position Transcript:  2569
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,26)   caucasian(G,34)   total(C,10|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 615, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:4781):
GTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATT
S
CAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAG
Celera SNP ID:            hCV25968258
SNP Position Transcript:  927
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|G,1)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 68, (S,TCC)   (C,TGC)   



Context             (SEQ ID NO:4782):
TCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTT
S
CAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGC
Celera SNP ID:            hCV25968274
SNP Position Transcript:  916
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,32)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 64, (F,TTC)   (L,TTG)   



Context             (SEQ ID NO:4783):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  3381
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 886, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4784):
ACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCC
S
GAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAG
Celera SNP ID:            hCV25968812
SNP Position Transcript:  832
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,31)   total(C,1|G,61)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:942, 36, (P,CCC)   (P,CCG)   



Context             (SEQ ID NO:4785):
GGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCTGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGG
K
TGGGCGAGCGCTCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGCTACA
Celera SNP ID:            hCV25992678
SNP Position Transcript:  2219
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,22)   caucasian(G,1|T,1)   total(G,7|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 499, (V,GTG)   (L,TTG)   



Context             (SEQ ID NO:4786):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3591
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:942, None   



Context             (SEQ ID NO:4787):
CTGGTGCTGGTGAAAGACCACGGGGAGCCAGCGCTGACGGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGCGGCCAGGCGCCAAAGTCATCGTCGC
R
GGCGTCAGTGGGTGCCACGGGCCCCGAGGTGACGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCTAGCCTGTTGGTTCTCACG
Celera SNP ID:            hCV25958870
SNP Position Transcript:  2766
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,25)   caucasian(G,24)   total(A,5|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 681, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,34)   total(A,5|G,65)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 681, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:4788):
ATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGA
M
AGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAAT
Celera SNP ID:            hCV25967589
SNP Position Transcript:  1057
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(A,13|C,15)   total(A,13|C,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 111, (E,GAA)   (D,GAC)   



Context             (SEQ ID NO:4789):
CACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACA
S
TTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTATCAAAACGCTCTCGGTTCCTGTAAAAGAGGACGCACAACTGGGGACAGTTAT
Celera SNP ID:            hCV8940144
SNP Position Transcript:  1730
SNP Source:               Applera
Population(Allele,Count): african american(C,5|G,25)   caucasian(C,3|G,7)   total(C,8|G,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 336, (L,CTT)   (V,GTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:942, 336, (L,CTT)   (V,GTT)      



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255383 - 30000034447311
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894659 - 209000073752482
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35033362)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:246):
AAAATATAGCAGAAAGCGGAATACCTCTTGCGAATCCTTCCGCACTAGGAAGCCATAAAAATTGGGCCTTGAGAGACAGTTTGAGGTAAGGCGTTGTATA
TATTGCAGATAGCTCTGAGGTTTTTGGAGTGTACCATGCTGTCTTCCTGGCAAGGAGGCCCAAGACCGCGGCAACTACTGCTCTGGCTTCTGATCCTCGC
AGCCTGGGAGACGGGTAGTGGCCAGCTCCACTACTCCGTCCCCGAGGAAGCAAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAG
CTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTC
GGATCGACCGCGAGGAGCTGTGTGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCTCTGCAGGTTTTCCATGTGGAGGTGAA
GGTGAGGGACATTAACGACAACCCGCCCATATTCCCTGAAAGCAAGAAACGAATAATCATTGCAGAATCTAGACCTCCGGAAACTCGATTTCCACTAGAT
GGCGCATCCGATGCAGATATTGGAGTAAACTCGGCATTGACCTACCGACTGGATCCCAACGATTATTTCACTTTGGACGCACAAAACAGTCTTGAGCAAA
TGTCTTCATTATCACTTGTACTGAGGAAAACACTGGACAGAGAGGAAATTCAGGAACATAGTTTATTACTGACWGCCAGTGATGGAGGTAAACCCGAGCT
GACTGGCACAGTTCAGCTGCTCATCACGATTCTGGACGTGAATGACAACGCCCCGGAATTTTACCAATCCGTTTATAAAGTGACGGTGTTAGAGAACGCC
TTCAATGGAACATTAGTGATCAAGCTAAATGCCACAGATCCTGATGATGGTACAAATGGAGATATAGTTTACTCATTTAGAAGGCCTGTATGGCCTGCAG
TGGTATATGCATTTACCATAAATCCGAACAATGGAGAAATTAGGACAAAAGGCAAACTAGATTTCGAAGAAAAGAAATTATATGAAATATCCGTGGAGGC
AGTTGACAAAGGAAATATTCCAATGGCGGGTCATTGTACCCTTTTGGTGGAAGTACTAGATGTAAATGATAACGCCCCAGAGGTTACCATCACTTCTTTG
TCACTCCCCATCAGAGAAGACACTCAGCCTAGMGCCATTATTGCCCTAATCAGTGTGTCCGATCGTGACTCTGGCTCAAATGGACAGGTCACCTGCACCT
TGACGCCGCATGTCCCCTTCAAGCTGGTGTCCACCTACAAGAACTACTACTCATTAGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTATCAGCCTATGA
ACTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACGGCCAGCGTGTCGGTGGGGGTGGCCGACGTGAACGACAACGCGCCGGCGTTC
GCGCAGCCCGAGTACACGGTGTTCGTGAAGGAAAACAATCCGCCGGGCTGCCACATCTTCACGGTGTCTGCKCAGGACGCGGACGCACAGGAGAACGCGC
TGGTCTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGTGCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCC
GTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGACTCTGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTG
CTGGACGAGAACGACAACGCTCCGGCGCTGCTGACGCCCGGGGCTGGCAGCGCGGGAGGCACAGTGAGCGAGCTGATGCCGCGGTCKGTGGGTGCAGGCC
ACGTGGTGGCGAAGGTGCGCGCGGTGGACGCCGATTCGGGCTACAATGCGTGGCTTTCGTATGAATTGCAGCTGGCGGCGGTCGGCGCGCGCATCCCGTT
CCGCGTGGGGCTGTACACTGGCGAGATCAGCACGACGCGCCCTCTGGACGAGGTGGACGCGCCGCACCACCGCCTTCTGGTGCTGGTGAAGGACCACGGT
GAGCCCGCGCTGACGGCCACGGCAACGGTGCTGTTGTCGCTGGTGGAGAGCGGCCAAGCGCCACAGGCTTCGTCGAGGGCGTCGGCAGGCGCTGTGGGTC
CAGAAGCGGCGCTGGTGGATGTCAATGTTTACTTGATCATTGCCATCTGCGCGGTGTCCAGCCTGTTGGTGCTCACGTTGCTGCTGTATACTGCGCTGCG
GTGCTCGGCACCGCCCACCGAGGGCGCGTGCGCGCCGGGCAAGCCCACTCTAGTGTGCTCCAGCGCGGCAGGSAGTTGGTCGTACTCGCAGCAGAGGCGG
CCGAGGGTGTGCTCTGGGGAGGGCCCGCATAAGACGGACCTCATGGCCTTCAGTCCCAGCCTTCCTCCTTGTCTGGGTTCTGCAGAGGGAACAGGCCAGA
GGGAGGAGGACTCAGAATGCTTGAAAGAGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCT
AGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCC
CCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCA
TTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGAC
CAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATG
GRAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACC
TCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCAC
TCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCT
CTGCCCTGTGCTCCGGGGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGT
GTGGCTACCGCGGGTATGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGC
GGAAGTTATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACT
ACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTT
TTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTA
TGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAA
AGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATC
ATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGC
TGCCTCTTGCATGTATTACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCT
AACCAACTATATATCAAGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTG
TGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCC
CATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAA
GCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATG
AAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCT
GGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTG
ACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTT
TAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCAT
TAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACT
TGTTACCAACACATGTGAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAG
AATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTA
CAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:943):
MLSSWQGGPRPRQLLLWLLILAAWETGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVKVRDINDNPPIFPESKKRIIIAESRPPETRFPLDGASDADIGVNSALTYRLDPNDYFTLDAQNSLEQMSSLSLVLRKTL
DREEIQEHSLLLTASDGGKPELTGTVQLLITILDVNDNAPEFYQSVYKVTVLENAFNGTLVIKLNATDPDDGTNGDIVYSFRRPVWPAVVYAFTINPNNG
EIRTKGKLDFEEKKLYEISVEAVDKGNIPMAGHCTLLVEVLDVNDNAPEVTITSLSLPIREDTQPSAIIALISVSDRDSGSNGQVTCTLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVGVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAQDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDSGVPPLGSNVTLQVFVLDENDNAPALLTPGAGSAGGTVSELMPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQLAAVGARIPFRVGLYTGEISTTRPLDEVDAPHHRLLVLVKDHGEPALTATATVLLSLVESGQAPQASSRASAGAVGPEAALVDVNVYL
IIAICAVSSLLVLTLLLYTALRCSAPPTEGACAPGKPTLVCSSAAGSWSYSQQRRPRVCSGEGPHKTDLMAFSPSLPPCLGSAEGTGQREEDSECLKEPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4790):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5283
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:943, None   



Context             (SEQ ID NO:4791):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4388
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:943, None   



Context             (SEQ ID NO:4792):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2792
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:943, 886, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4793):
ATTGTACCCTTTTGGTGGAAGTACTAGATGTAAATGATAACGCCCCAGAGGTTACCATCACTTCTTTGTCACTCCCCATCAGAGAAGACACTCAGCCTAG
M
GCCATTATTGCCCTAATCAGTGTGTCCGATCGTGACTCTGGCTCAAATGGACAGGTCACCTGCACCTTGACGCCGCATGTCCCCTTCAAGCTGGTGTCCA
Celera SNP ID:            hCV25970086
SNP Position Transcript:  1233
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,31)   caucasian(C,24)   total(A,1|C,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:943, 366, (R,AGA)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,29)   caucasian(C,26)   total(A,1|C,55)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:943, 366, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4794):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4941
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:943, None   



Context             (SEQ ID NO:4795):
TGGACGCACAAAACAGTCTTGAGCAAATGTCTTCATTATCACTTGTACTGAGGAAAACACTGGACAGAGAGGAAATTCAGGAACATAGTTTATTACTGAC
W
GCCAGTGATGGAGGTAAACCCGAGCTGACTGGCACAGTTCAGCTGCTCATCACGATTCTGGACGTGAATGACAACGCCCCGGAATTTTACCAATCCGTTT
Celera SNP ID:            hCV11840421
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,3)   caucasian(A,32|T,6)   total(A,65|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:943, 213, (T,ACA)   (T,ACT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,8)   total(A,8|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:943, 213, (T,ACA)   (T,ACT)      



Context             (SEQ ID NO:4796):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3002
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:943, None   



Context             (SEQ ID NO:4797):
TGCAGGTGTTCGTGCTGGACGAGAACGACAACGCTCCGGCGCTGCTGACGCCCGGGGCTGGCAGCGCGGGAGGCACAGTGAGCGAGCTGATGCCGCGGTC
K
GTGGGTGCAGGCCACGTGGTGGCGAAGGTGCGCGCGGTGGACGCCGATTCGGGCTACAATGCGTGGCTTTCGTATGAATTGCAGCTGGCGGCGGTCGGCG
Celera SNP ID:            hCV25973638
SNP Position Transcript:  1887
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,5)   caucasian(G,2|T,2)   total(G,11|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:943, 584, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4798):
CCGACGTGAACGACAACGCGCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAAAACAATCCGCCGGGCTGCCACATCTTCACGGTGTCTGC
K
CAGGACGCGGACGCACAGGAGAACGCGCTGGTCTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGTGCGCTGTCGAGCTACGTGTCGGTGCACGCGG
Celera SNP ID:            hCV3163213
SNP Position Transcript:  1572
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|T,5)      total(G,4|T,5) ;no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:943, 479, (A,GCG)   (A,GCT)      479, (A,GCT)   (A,GCG)      



Context             (SEQ ID NO:4799):
TCACGTTGCTGCTGTATACTGCGCTGCGGTGCTCGGCACCGCCCACCGAGGGCGCGTGCGCGCCGGGCAAGCCCACTCTAGTGTGCTCCAGCGCGGCAGG
S
AGTTGGTCGTACTCGCAGCAGAGGCGGCCGAGGGTGTGCTCTGGGGAGGGCCCGCATAAGACGGACCTCATGGCCTTCAGTCCCAGCCTTCCTCCTTGTC
Celera SNP ID:            hCV25972769
SNP Position Transcript:  2373
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,40)   total(C,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:943, 746, (G,GGC)   (G,GGG)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255400 - 30000034447320
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894658 - 209000073752496
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35093875)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:247):
GAAAGRAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGYGATAATATAAAAAATATATAGTTAATTSGGAATTGAATTTACAAAATAC
ATTGTGTGGTGATGCAATAGAAAGYTCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCT
TCTCYTYGCCTACTGGAAGGCAGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGAACCTTCGTTGGCCGCATCGCGCAGGACCTA
GGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAGGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTG
TGAATTCTCGGATCGACCGGGAGGAGCTGTGCCGGCGGAGGGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGT
GGAGGTGGCAGTGAAGGACATCAATGACAATCCGCCCAGGTTCTCCAGACAAGAACAAAGATTATTCATTTTAGAGTCAAGAATGCCAGATTCGCGGTTT
CCGCTAGAGGGCGCGTCGGATTTGGATATTGGAGCAAATGCACAATTGAGATACAGGTTAAATCCAAACGAATATTTTGACTTAGATGTTAAAACAAATG
AAGAARAAACGAACTTTTTAGAGCTGGTTTTGAGGAAATCCTTAGATAGAGAAGAAACACAAGAACACCGTTTATTAGTGATTGCAACTGATGGAGGAAA
ACCCGAACTAACAGGTACAGTTCAGTTGTTGATCAATGTATTGGATGCTAATGATAACGCCCCAGAATTTGATAAATCCATTTATAATGTCAGATTGTTG
GAAAATGCACCAAGTGGGRCATTAGTTATTAAACTGAACGCCTCAGATGCAGATGAGGGCATCAATAAGGAAATAGTGTATTTCTTTAGTAATCTTGTTC
TTGACGATGTAAAGTCCAAATTTATAATTAATTCTAATACTGGTGAAATAAAAGTTAACGGGGAACTGGATTATGAAGACTATAACTCATATGAAATTAA
TATTGATGCCATGGATAAAAGTACATTCCCATTATCAGGACACTGTAAAGTAGTAGTGAAACTCCTGGATGTGAATGATAATACCCCAGAGATGGCCATA
ACCAMCCTTTTCCTGCCTGTCAAAGAGGACGCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGA
CCTGCTCCCTAATGCCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGYGCCCTGGACCGCGAGAGCGTGTC
GGTCTATGAGCTGGTGGTGACCGCGCGRGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAGTGGCCGACGTGAACGACAAYGCT
CCGGCGTTCGCGCAGCCCCAGTATACCGTGTTCGTGAAGGAGAACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTGCACGGGACGCGGACGCGCAGG
AGAACGCCCTGGTGTCCTACTCGCTKGTGGAGCGGCGGGTGGGCGAGCGCCCGCTGTCGAGTTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGC
GCTGCAGCCGCTGGACCACGAGGAAGTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAG
GTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGTGCCTCGAGTGGGTGGCACCGGCGGCGCAGTGAGCGAGCTGGTGCCGAGGTCAGTGG
GTGCGGGCCACGTGGTGGCGAAGGTRCGCGCAGTGGACCCTGATTCGGGCTACAACGCTTGGCTTTCGTATGAGCTGCAGCCAGCGCCTGGCAGTGCGCG
CATCCCGTTCCGCGTGGGGCTGTACACAGGCGAGATCAGCACAACACGCTCTCTGGATGAGACCGAAGCACCGCGCCACCGCCTTCTGGTGCTGGTGAAG
GACCATGGAGAGCCCCCGCTGACAGCCACAGCCACAGTGCTGGTGTCGCTGGTGGAAAGTGGCCAGGCGCCGAAGGCCTCATCGCGGGCGTCGGCGGGCG
CTGTGGGTCCCGAGGCTGYCCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACAC
CGCGCTGCGGTGCTCGGCGCAGCCCACCGAGGCCGTGTGCACACGGGGCAAGCCCACTCTGTTGTGCTCCAGCGCGGTGGGGAGCTGGTCGTACTCGCAG
CAGAGGAGACAGAGGGTGTGCTCTGGGGAAGCTCCACCCAAAACAGACCTCATGGCCTTCAGTCCAAGCCTTCCTCAGGGTCCCACCTCTACAGACAACC
CACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCC
AGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAAC
AGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCA
TCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAA
CAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAGTTTTTGTAAT
AATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCT
GTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAG
ACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCTTGA
TGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCGAGTGCCAGAT
ATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGGGGAAGTGTAA
ACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTTAGGAGACCCT
AAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAG
CAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTA
TGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAA
GAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAAT
TGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATG
ATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAATTG
AAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGT
TTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACT
CCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAATTCCATTATAT
TTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATC
AAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTC
TAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAA
TTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGT
TTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACT
TTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCTACA
TTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATT
ATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGA
TTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:944):
MVYSRRGSLGSRLLLLWLLLAYWKAGSGQLHYSIPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKGRGDLLEVNLQNGILFVNSRIDREELCRRRAE
CSIHLEVIVDRPLQVFHVEVAVKDINDNPPRFSRQEQRLFILESRMPDSRFPLEGASDLDIGANAQLRYRLNPNEYFDLDVKTNEEETNFLELVLRKSLD
REETQEHRLLVIATDGGKPELTGTVQLLINVLDANDNAPEFDKSIYNVRLLENAPSGTLVIKLNASDADEGINKEIVYFFSNLVLDDVKSKFIINSNTGE
IKVNGELDYEDYNSYEINIDAMDKSTFPLSGHCKVVVKLLDVNDNTPEMAITTLFLPVKEDAPLSTVIALISVSDRDSGANGQVTCSLMPHVPFKLVSTF
KNYYSLVLDSALDRESVSVYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPQYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVGE
RPLSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLVPRVGGTGGAVSELVPRSVGAGHVVAKVRAVDPDS
GYNAWLSYELQPAPGSARIPFRVGLYTGEISTTRSLDETEAPRHRLLVLVKDHGEPPLTATATVLVSLVESGQAPKASSRASAGAVGPEAVLVDVNVYLI
IAICAVSSLLVLTLLLYTALRCSAQPTEAVCTRGKPTLLCSSAVGSWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDNPRQPNPDWRYSASLRA
GMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFI
TFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4800):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5253
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4801):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4911
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4802):
GATGCCATGGATAAAAGTACATTCCCATTATCAGGACACTGTAAAGTAGTAGTGAAACTCCTGGATGTGAATGATAATACCCCAGAGATGGCCATAACCA
M
CCTTTTCCTGCCTGTCAAAGAGGACGCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACCTGC
Celera SNP ID:            hCV25765747
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,22)   caucasian(C,40)   total(A,2|C,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 353, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:4803):
GAAAGGAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGG
Y
GATAATATAAAAAATATATAGTTAATTGGGAATTGAATTTACAAAATACATTGTGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGG
Celera SNP ID:            hCV25631151
SNP Position Transcript:  51
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,19)   caucasian(C,22|T,16)   total(C,29|T,35)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,23|T,17)   total(C,30|T,48)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(C,0|T,20)   Myers-AT(C,24|T,24)   total(C,24|T,44) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4804):
GAAAGGAAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGTGATAATATAAAAAATATATAGTTAATT
S
GGAATTGAATTTACAAAATACATTGTGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATC
Celera SNP ID:            hCV25631152
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,29)   caucasian(G,40)   total(C,9|G,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,24)   caucasian(G,40)   total(C,4|G,64)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(C,0|G,20)   Myers-AT(C,0|G,48)   total(G,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4805):
TCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGTCTATGAGCTGGTGGTGACCGCGCG
R
GACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAGTGGCCGACGTGAACGACAACGCTCCGGCGTTCGCGCAGCCCCAGTATACCG
Celera SNP ID:            hCV25631160
SNP Position Transcript:  1428
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,40)   total(A,3|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 427, (R,CGA)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(G,40)   total(A,5|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 427, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4806):
TGGCTGTGCCAAGAAGCTCAGAAAGGTGATAATATAAAAAATATATAGTTAATTGGGAATTGAATTTACAAAATACATTGTGTGGTGATGCAATAGAAAG
Y
TCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCTTCTCCTCGCCTACTGGAAGGCAGGG
Celera SNP ID:            hCV25631153
SNP Position Transcript:  125
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               dbSNP
Population(Allele,Count): Myers-Chimp(T,0|C,20)   Myers-AT(T,0|C,48)   total(C,68) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4807):
CTGACAGCCACAGCCACAGTGCTGGTGTCGCTGGTGGAAAGTGGCCAGGCGCCGAAGGCCTCATCGCGGGCGTCGGCGGGCGCTGTGGGTCCCGAGGCTG
Y
CCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACCGCGCTGCGGTGCTCGGCG
Celera SNP ID:            hCV25631161
SNP Position Transcript:  2219
SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,16)   caucasian(C,22|T,16)   total(C,36|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 691, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:4808):
TGTGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCTTCTC
Y
TCGCCTACTGGAAGGCAGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGAACCTTCGTTGGCCGCATCGCGCAGGACCTAGGGCT
Celera SNP ID:            hCV25631154
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,40)   total(C,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 20, (L,CTC)   (F,TTC)   



Context             (SEQ ID NO:4809):
ACGCGCCGGCGCTGCTGGTGCCTCGAGTGGGTGGCACCGGCGGCGCAGTGAGCGAGCTGGTGCCGAGGTCAGTGGGTGCGGGCCACGTGGTGGCGAAGGT
R
CGCGCAGTGGACCCTGATTCGGGCTACAACGCTTGGCTTTCGTATGAGCTGCAGCCAGCGCCTGGCAGTGCGCGCATCCCGTTCCGCGTGGGGCTGTACA
Celera SNP ID:            hCV25631162
SNP Position Transcript:  1926
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,28)   caucasian(G,38)   total(A,8|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 593, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4810):
AGAGGGCGCGTCGGATTTGGATATTGGAGCAAATGCACAATTGAGATACAGGTTAAATCCAAACGAATATTTTGACTTAGATGTTAAAACAAATGAAGAA
R
AAACGAACTTTTTAGAGCTGGTTTTGAGGAAATCCTTAGATAGAGAAGAAACACAAGAACACCGTTTATTAGTGATTGCAACTGATGGAGGAAAACCCGA
Celera SNP ID:            hCV25631163
SNP Position Transcript:  706
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,39)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 187, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4811):
TGGTGATGCAATAGAAAGCTCATAATTGGAACGAGATTGAGATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCTTCTCCT
Y
GCCTACTGGAAGGCAGGGAGCGGCCAGCTCCACTACTCGATCCCGGAGGAAGCCAAACACGGAACCTTCGTTGGCCGCATCGCGCAGGACCTAGGGCTGG
Celera SNP ID:            hCV25631155
SNP Position Transcript:  207
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,17|T,23)   total(C,46|T,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 20, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:4812):
AGTTCAGTTGTTGATCAATGTATTGGATGCTAATGATAACGCCCCAGAATTTGATAAATCCATTTATAATGTCAGATTGTTGGAAAATGCACCAAGTGGG
R
CATTAGTTATTAAACTGAACGCCTCAGATGCAGATGAGGGCATCAATAAGGAAATAGTGTATTTCTTTAGTAATCTTGTTCTTGACGATGTAAAGTCCAA
Celera SNP ID:            hCV25631164
SNP Position Transcript:  919
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 258, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:4813):
GAAAG
R
AAAAGAACCTTCCATTTTTGGCTGTGCCAAGAAGCTCAGAAAGGTGATAATATAAAAAATATATAGTTAATTGGGAATTGAATTTACAAAATACATTGTG
Celera SNP ID:            hCV25631156
SNP Position Transcript:  6
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,38)   total(A,2|G,76)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,38)   total(A,2|G,76)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4814):
TGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAGTGGCCGACGTGAACGACAA
Y
GCTCCGGCGTTCGCGCAGCCCCAGTATACCGTGTTCGTGAAGGAGAACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTGCACGGGACGCGGACGCGC
Celera SNP ID:            hCV25631157
SNP Position Transcript:  1497
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,6)   caucasian(C,25|T,13)   total(C,51|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 450, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:4815):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4358
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:944, None   



Context             (SEQ ID NO:4816):
CCGTGTTCGTGAAGGAGAACAACCCGCCAGGCTGCCACATCTTCACGGTGTCTGCACGGGACGCGGACGCGCAGGAGAACGCCCTGGTGTCCTACTCGCT
K
GTGGAGCGGCGGGTGGGCGAGCGCCCGCTGTCGAGTTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAAG
Celera SNP ID:            hCV25631158
SNP Position Transcript:  1626
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,3)   caucasian(G,34|T,2)   total(G,57|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 493, (L,CTG)   (L,CTT)   



Context             (SEQ ID NO:4817):
ACTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTAATGCCCCACGTTCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAG
Y
GCCCTGGACCGCGAGAGCGTGTCGGTCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCGTGTCTGTGGAAG
Celera SNP ID:            hCV25631159
SNP Position Transcript:  1377
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,40)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 410, (S,AGC)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,40)   total(C,73|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 410, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:944, 410, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4818):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2762
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:944, 872, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4819):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2972
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:944, None   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255384 - 30000034447304
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894645 - 209000073752500
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35087531)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:248):
TCCCTGACTGTTGAATGATGGCGGACGCAGAAGAAATGGATTAATAAATTCCGGAACATACAGTATTTTATCTTTATGCGGAAGATCTTCTAATGGAAAT
AAAACCAGAGGTATTTGACATGGTGTTTACCCCGGAGGATAGATTGGGAAAGCAATGTCTGCTCCTCCCGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGG
AGCGGCCAGCTCCACTACTCCGTACCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGC
CGCGCCTGTTCAGGATGGCCTCCAAAGACCGCGAGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGA
GCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAAC
GACAACCCGCCCTTGTTCCCGGTAGAGGAACAAAGAGTGCTGATTTACGARTCTAGGCTGCCAGATTCTGTGTTTCCACTGGAGGGCGCGTCCGATGCAG
ATGTTGGCTCAAATTCCATCTTAACCTATAAACTCAGTTCTAGCGAATACTTCGGGCTAGATGTGAAAATAAACAGTGATGACAATAAACAAATTGGGCT
CTTATTAAAGAAATCCTTGGACAGAGAGGAAGCTCCTGCACACAACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAG
CTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAAYGCAGACAACGGAACAACAG
TTATCAGACTGAATGCTTCTGATCGGGATGAAGGAGCSAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGCAGCCATGGTTATTGACCACTTTAG
CATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCAT
CCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTRCGTG
AAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAMCTGCTCGCTGACGCCTCAYGTCCC
TTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGYGCCCTGGACCGCGAGAGMGTGTCGGCCTATGAGTTGGTGGTAACCGCG
CGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACATGAATGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACA
CAGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCT
GGTGGAGCGGCGRGTGGGCGAGCGCGCGTTGTCGAGCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAG
CTAGAGCTGCTGCAGTTTCAGGTGAGMGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAAMGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACA
ACGCGCCGGCGCTGCTGGCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCASTGGGTGCAGGCCAAGTGGTGGCGAAGGT
GCGCGCAGTKGACGCCGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCCCCGGCAAGCAGCGCTCGCTTCCCGTTTCGCGTGGGGCTGTAC
ACGGGCGAGATCAGCACCACTCGTGTCCTGGACGARGCGGACTCTCCGCGCCACCGGCTGCTGGTGCTGGTGAAAGACCACGGTGAGCCGGCGCTGACAG
CGACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGTGGCCAGGCTCCAAAGGCGTCATCACGGGCGTCGGTGGGCGCCGCGGGCCCAGAGGCGGCGCTGGT
GGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTCCTCACGCTACTGCTGTACACAGCGCTGCGGTGCTCGGCGCCACCC
ACCGAGGGCGCGTGCACGGCGGACAAGCCCACGCTGGTGTGCTCCAGCGCAGTGGGGAGCTGGTCGTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCCG
GGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGA
TCATGATGCCAAACCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATT
CTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGG
GTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCC
TGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAA
AAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAG
CCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAA
AGTTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAG
AACCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGG
GGATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTA
TGCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATG
GAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGG
CTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACC
CTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCC
TTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGC
TATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAG
TGCTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTAT
TACTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCA
AGACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTT
CTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTAT
GCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATG
TAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAAT
TTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATA
AAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGC
AGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATG
TACAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAA
CTGTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGT
GAACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTAT
TAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAA
ACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:945):
MEIKPEVFDMVFTPEDRLGKQCLLLPLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRMASKDREDLLEVNLQNGILFVNSRID
REELCGRSAECSIHLEVIVDRPLQVFHVDVEVRDINDNPPLFPVEEQRVLIYESRLPDSVFPLEGASDADVGSNSILTYKLSSSEYFGLDVKINSDDNKQ
IGLLLKKSLDREEAPAHNLFLTATDGGKPELTGTVQLLVTVLDVNDNAPTFEQSEYEVRIFENADNGTTVIRLNASDRDEGANGAISYSFNSLVAAMVID
HFSIDRNTGEIVIRGNLDFEQENLYKILIDATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVNCSLTP
HVPFKLVSTFKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASLSVEVADMNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVS
YSLVERRVGERALSSYISVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVSELVPRSLGAGQVV
AKVRAVDADSGYNAWLSYELQPPASSARFPFRVGLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRASVGAAGPEA
ALVDVNVYLIIAICAVSSLLVLTLLLYTALRCSAPPTEGACTADKPTLVCSSAVGSWSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDL
NEDHDAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIP
GSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4820):
ATTCAGGTGCCAACGGGCAGGTGAACTGCTCGCTGACGCCTCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAG
Y
GCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGG
Celera SNP ID:            hCV977306
SNP Position Transcript:  1352
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,26)   caucasian(C,2|T,38)   total(C,14|T,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 420, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 420, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:4821):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5267
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:945, None   



Context             (SEQ ID NO:4822):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  4925
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:945, None   



Context             (SEQ ID NO:4823):
GCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGT
R
CGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAACTGCTCGCTGACGCCTCACG
Celera SNP ID:            hCV25962594
SNP Position Transcript:  1196
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,40)   total(A,72|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 368, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,5)   caucasian(A,24)   total(A,51|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 368, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4824):
AGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAA
Y
GCAGACAACGGAACAACAGTTATCAGACTGAATGCTTCTGATCGGGATGAAGGAGCGAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGCAGCCA
Celera SNP ID:            hCV26311960
SNP Position Transcript:  881
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 263, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:4825):
GGCTTTCGTATGAGCTGCAGCCCCCGGCAAGCAGCGCTCGCTTCCCGTTTCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGA
R
GCGGACTCTCCGCGCCACCGGCTGCTGGTGCTGGTGAAAGACCACGGTGAGCCGGCGCTGACAGCGACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGTG
Celera SNP ID:            hCV25631181
SNP Position Transcript:  2036
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,8)   caucasian(A,34)   total(A,60|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 648, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:4826):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4372
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:945, None   



Context             (SEQ ID NO:4827):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2776
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 895, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4828):
GCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCA
S
TGGGTGCAGGCCAAGTGGTGGCGAAGGTGCGCGCAGTGGACGCCGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCCCCGGCAAGCAGCGC
Celera SNP ID:            hCV25627682
SNP Position Transcript:  1872
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,36)   total(C,65|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 594, (L,CTG)   (V,GTG)   



Context             (SEQ ID NO:4829):
CGTTGTCGAGCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGAG
M
GCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGGG
Celera SNP ID:            hCV25627674
SNP Position Transcript:  1727
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,36)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 545, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4830):
TACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGAACTGCTCGCTGACGCCTCA
Y
GTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGTTGGTGGTAA
Celera SNP ID:            hCV26311958
SNP Position Transcript:  1295
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 401, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:4831):
CGCTGCTGGCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGCCGCGGTCACTGGGTGCAGGCCAAGTGGTGGCGAAGGTGCGCGCAGT
K
GACGCCGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCCCCGGCAAGCAGCGCTCGCTTCCCGTTTCGCGTGGGGCTGTACACGGGCGAGA
Celera SNP ID:            hCV25627683
SNP Position Transcript:  1910
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,3)   caucasian(G,9|T,19)   total(G,38|T,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 606, (V,GTG)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,4)   caucasian(G,6|T,8)   total(G,24|T,12)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 606, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4832):
AGGTGAACTGCTCGCTGACGCCTCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAG
M
GTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACATGAATGACA
Celera SNP ID:            hCV25961281
SNP Position Transcript:  1370
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,27)   caucasian(C,24)   total(A,3|C,51)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 426, (R,AGA)   (S,AGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,17)   caucasian(A,17|C,23)   total(A,38|C,40)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 426, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:4833):
GCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTTCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAA
M
GTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCGCTGCTGGCGCCTCGGGTGGGTGGTACTGGTGGTGCAGTGAGCGAGCTGGTGC
Celera SNP ID:            hCV25627675
SNP Position Transcript:  1763
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,35)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 557, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:4834):
CCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAATGCAGACAACGGAACAACAGTTATCAGACTGAATGCTTCTGATCGGGATGAAGGAGC
S
AATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGCAGCCATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTA
Celera SNP ID:            hCV26311959
SNP Position Transcript:  938
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 282, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:4835):
AGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCG
R
GTGGGCGAGCGCGCGTTGTCGAGCTACATTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGC
Celera SNP ID:            hCV25627684
SNP Position Transcript:  1613
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,35)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 507, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4836):
ACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAGGGACATTAACGACAACCCGCCCTTGTTCCCGGTAGAGGAACAAAGAGTGCTGATTTACGA
R
TCTAGGCTGCCAGATTCTGTGTTTCCACTGGAGGGCGCGTCCGATGCAGATGTTGGCTCAAATTCCATCTTAACCTATAAACTCAGTTCTAGCGAATACT
Celera SNP ID:            hCV25627692
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,6)   total(A,35|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:945, 153, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:4837):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  2986
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:945, None   



Context             (SEQ ID NO:4838):
ACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGA
M
CTGCTCGCTGACGCCTCACGTCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGTGCCCTGGACCGCGAGAGCGTGTCG
Celera SNP ID:            hCV977302
SNP Position Transcript:  1276
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,13)   caucasian(A,18|C,16)   total(A,35|C,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:945, 395, (N,AAC)   (T,ACC)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2348265 - 30000034447330
Public Transcript Accession: NM_031861
Celera Protein:              hCP1913513 - 206000045673898
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(35111857..35114475)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:249):
GCATTACGTATTCAGATACTGCTTTGCTTCATCCTCTCTAAAATTTAACACCGAGGAGTTTAAGAAATGAAGATAAGGAACTCGAATTATTTTTAAATTT
TGGATCAATGTAAAGGCAATCTAATATTTGGAAAATACTTGCAATGTTGTTCTCCTGGCGAGAAGATCCTGGAGCCCAGTGMCTGCTGCTTTCTCTTCTG
CTCCTCGCAGCCTCGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCTGAGGAGGCCAAGCATGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGG
GGCTGGAGCTGYCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGT
GAATTCTCGGRTAGACCGCGAGGAACTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCASGTG
GAGGTGGAAGTGAAGGACATTAATGACAACGCGCCAGTTTTTCCAATGGCTGTAAAGAATCTGTTTATTTCCGAATCCCGACAGCCTGGCTCTCGGTTTT
CGCTAGAGGGCGCATCAGATGCAGATATCGGAACAAATTCGTTGTTGACTTACAGTCTTGATTCCACTGAATATTTTACCTTGGACGTTAAAAGAAATGA
TYAGGAAATTAAATCCCTTGGACTCGTGTTGAAAAAAAATTTAAATCGAGAGGACACTCCTAAGCATTATTTACTAATAACAGCAATTGATGGTGGGAAA
CCAGAGCTCACTGGCACGACTCAACTAAAGATCACTGTTTTAGATGTAAACGACAACGCCCCAGCYTTTGAGAGGACGATCTATAAAGTCAGATTACTCG
AAAATGCACCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCGATTTGGRTGAAGGAGTAAATAAGGATATCGCGTATTCTTTCAATACGGACATGTC
AGCAGATATTCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGTRACATAGATTTCGAGGAAAGTAAGTCATATGAAATCCAG
GTAGAAGCCYCGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGTTATTC
AATCACTATCTTTACCTGTATTAGAAGACTCTCCACTTAGCACAGTCATCGCCCTGATCAGCGTGTCCGACCGCGACTCAGGAGTCAATGGACAGGTCAC
CTGCTCGCTGACGCCCCAKGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCATTGGTGCTGGACAGCCCTCTGGACCGCGAGAGCGTGTCG
GCCTATGAGCTGGTGGTGACTGCTCGGGACGGGGGCTCGCCTTCACTGTGGGCCACGGCCATCGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGC
CGGCATTCTCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCGGACGCGCAGGA
GAACGCCCTGGTGTCCTACTCGCTGGTGGAACGGCGGGTGGGGGAGCGCGCGCTGTCGAGCTACGTGTCGGTACACGCGGAGAGCGGCAAGGTGTACGCG
CTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGTGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGG
TGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGATGCCTCGGGTGGGTGGCATCGGTGGCGCAGTGAGCGAGCTGGTGCCGCGGTCAGTGGG
TGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGATGCAGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCTGGGACCGGCGGTGCGCGC
ATCCCGTTTCGCGTGGGGCTGTACACGGGAGAGATCKGCACGACCCGTGCCCTGGACGAGGTGGACGCCCCGCGCCATCGCCTACTGGTGCTGGTGAAGG
ACCACGGTGAACCCTCATTGACCGCCACGGCCACTGTGCTGGTGTCGCTGGTGGAGAGTGGCCAGGCACCCAAGGCCTCGTCCCAGGCGTCCGCTGGCGC
CACGGGCCCGGAAGCTGCACTGGTGGATGTCAACGTGTACTTGATCGTCGCCATCTGCGCGGTGTCCAGTCTGTTRGTGCTCACACTGCTGCTATATACT
GCTCTGCGGTGCTCCGCGCCGCCAACCGAAGGCGACTGTGGGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGC
AGAGGCAGCAGAGGGTGTACTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGA
GGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAAGTGAGTAATTTTTATTTATTCTTTCCAAAATGTCTTTGTTTTTCATTCCTCAATGTTTCCACT
CCTCTGGAAATACATTAA

Protein Sequence    (SEQ ID NO:946):
MLFSWREDPGAQCLLLSLLLLAASEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVEVKDINDNAPVFPMAVKNLFISESRQPGSRFSLEGASDADIGTNSLLTYSLDSTEYFTLDVKRNDEEIKSLGLVLKKNL
NREDTPKHYLLITAIDGGKPELTGTTQLKITVLDVNDNAPAFERTIYKVRLLENAPNGTLVVTVNATDLDEGVNKDIAYSFNTDMSADILSKFHLDPVNG
QISVKGNIDFEESKSYEIQVEATDKGNPPMSDHCTVLLEIVDINDNVPELVIQSLSLPVLEDSPLSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVST
FKNYYSLVLDSPLDRESVSAYELVVTARDGGSPSLWATAIVSVEVADVNDNAPAFSQSEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLMPRVGGIGGAVSELVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDEVDAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSQASAGATGPEAALVDVNVYL
IVAICAVSSLLVLTLLLYTALRCSAPPTEGDCGPGKPTLVCSSAVGSWSYSQQRQQRVYSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAKVS
NFYLFFPKCLCFSFLNVSTPLEIH


SNP Information

Context             (SEQ ID NO:4839):
TGCAGACTCAGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCTGGGACCGGCGGTGCGCGCATCCCGTTTCGCGTGGGGCTGTACACGGGAGAGATC
K
GCACGACCCGTGCCCTGGACGAGGTGGACGCCCCGCGCCATCGCCTACTGGTGCTGGTGAAGGACCACGGTGAACCCTCATTGACCGCCACGGCCACTGT
Celera SNP ID:            hCV25631167
SNP Position Transcript:  2037
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 679, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:4840):
ATTATTTACTAATAACAGCAATTGATGGTGGGAAACCAGAGCTCACTGGCACGACTCAACTAAAGATCACTGTTTTAGATGTAAACGACAACGCCCCAGC
Y
TTTGAGAGGACGATCTATAAAGTCAGATTACTCGAAAATGCACCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCGATTTGGATGAAGGAGTAAATA
Celera SNP ID:            hCV25631168
SNP Position Transcript:  866
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(C,6|T,34)   total(C,7|T,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 289, (T,ACT)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 289, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:4841):
GACAACGCCCCAGCGTTTGAGAGGACGATCTATAAAGTCAGATTACTCGAAAATGCACCAAATGGTACCCTAGTGGTGACCGTTAACGCCACCGATTTGG
R
TGAAGGAGTAAATAAGGATATCGCGTATTCTTTCAATACGGACATGTCAGCAGATATTCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGT
Celera SNP ID:            hCV25631169
SNP Position Transcript:  952
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,19)   caucasian(A,23|G,17)   total(A,38|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 318, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,698|A,797)   total(G,698|A,797)no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 318, (I,ATC)   (V,GTC)      318, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:4842):
TATTAGAAGACTCTCCACTTAGCACAGTCATCGCCCTGATCAGCGTGTCCGACCGCGACTCAGGAGTCAATGGACAGGTCACCTGCTCGCTGACGCCCCA
K
GTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCATTGGTGCTGGACAGCCCTCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGGTGA
Celera SNP ID:            hCV11840434
SNP Position Transcript:  1319
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,22)   caucasian(G,21|T,17)   total(G,25|T,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 440, (S,AGC)   (I,ATC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,6|T,8)   total(G,6|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 440, (S,AGC)   (I,ATC)      



Context             (SEQ ID NO:4843):
TCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGTAACATAGATTTCGAGGAAAGTAAGTCATATGAAATCCAGGTAGAAGCC
Y
CGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAATTGTGGACATCAATGATAATGTACCTGAGTTAGTTATTCAATCACTATC
Celera SNP ID:            hCV11840435
SNP Position Transcript:  1110
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,16|T,22)   total(C,46|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 370, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,6)   caucasian(C,17|T,23)   total(C,45|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 370, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,8)      total(C,8|T,6) ;no_pop(T,-|C,-)   JBIC-allele(C,698|T,797)   total(C,698|T,797) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 370, (A,GCC)   (A,GCT)      370, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:4844):
AAATAAGGATATCGCGTATTCTTTCAATACGGACATGTCAGCAGATATTCTGTCAAAATTCCATTTAGATCCAGTCAATGGACAAATCAGTGTAAAGGGT
R
ACATAGATTTCGAGGAAAGTAAGTCATATGAAATCCAGGTAGAAGCCACGGATAAAGGAAATCCCCCAATGTCAGATCACTGCACAGTTCTACTCGAAAT
Celera SNP ID:            hCV25631170
SNP Position Transcript:  1062
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,38)   total(A,70|G,4)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 354, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,40)   total(A,69|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 354, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4845):
CCTCGTCCCAGGCGTCCGCTGGCGCCACGGGCCCGGAAGCTGCACTGGTGGATGTCAACGTGTACTTGATCGTCGCCATCTGCGCGGTGTCCAGTCTGTT
R
GTGCTCACACTGCTGCTATATACTGCTCTGCGGTGCTCCGCGCCGCCAACCGAAGGCGACTGTGGGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCGG
Celera SNP ID:            hCV15871597
SNP Position Transcript:  2276
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,10)   caucasian(A,17|G,23)   total(A,35|G,33)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 759, (Y,TAC)   (C,TGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,16)   caucasian(A,15|G,21)   total(A,29|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 759, (Y,TAC)   (C,TGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;JBIC-allele(A,611|G,704)   total(G,704|A,611)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 759, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:4846):
TTGTGAATTCTCGGATAGACCGCGAGGAACTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCA
S
GTGGAGGTGGAAGTGAAGGACATTAATGACAACGCGCCAGTTTTTCCAATGGCTGTAAAGAATCTGTTTATTTCCGAATCCCGACAGCCTGGCTCTCGGT
Celera SNP ID:            hCV25631171
SNP Position Transcript:  497
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 166, (S,TCG)   (W,TGG)   



Context             (SEQ ID NO:4847):
GGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGG
R
TAGACCGCGAGGAACTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAGGTGGAAGT
Celera SNP ID:            hCV25631172
SNP Position Transcript:  411
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,36|G,2)   total(A,74|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 137, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:4848):
CTCGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCTGAGGAGGCCAAGCATGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTG
Y
CGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGAT
Celera SNP ID:            hCV26311970
SNP Position Transcript:  312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 104, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:4849):
TCGAATTATTTTTAAATTTTGGATCAATGTAAAGGCAATCTAATATTTGGAAAATACTTGCAATGTTGTTCTCCTGGCGAGAAGATCCTGGAGCCCAGTG
M
CTGCTGCTTTCTCTTCTGCTCCTCGCAGCCTCGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTCTGAGGAGGCCAAGCATGGCACCTTCGTGGGCC
Celera SNP ID:            hCV25631173
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,21)   caucasian(C,30)   total(A,7|C,51)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 61, (Q,CAG)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:946, 61, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:4850):
GCTAGAGGGCGCATCAGATGCAGATATCGGAACAAATTCGTTGTTGACTTACAGTCTTGATTCCACTGAATATTTTACCTTGGACGTTAAAAGAAATGAT
Y
AGGAAATTAAATCCCTTGGACTCGTGTTGAAAAAAAATTTAAATCGAGAGGACACTCCTAAGCATTATTTACTAATAACAGCAATTGATGGTGGGAAACC
Celera SNP ID:            hCV25765661
SNP Position Transcript:  702
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:946, 234, (D,GAC)   (D,GAT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255391 - 30000034447411
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894644 - 209000073752580
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..34988777)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:250):
CAATGCCGGCGTTCGGGAGGCGCAACGTCGGCGGTCGCTGAGTATCCAGCCCGCAGCAGTGACGGCCGGCAGGAGCGTGCTCTTCCCCGCGGCTCGTGCT
CTCCAGGAGTCCGGAGCATGGTCCTGGGTCACCGTTGGTGTAGCGTGTTGGTGGAACGTGGACGCCTAGAGGGAGGATGGTGGGCTGTGGGGTGGCAGTT
TTATGTTTGTGGGTTTCCTGCGGCGCTGCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGG
ACTTGAGGMTGCCAGCGGCCGCTATGTYCTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTT
GGTGGTCAGAGAGCCGGCGGACCGCGAACAGCTGTGCAGGGCCAAAGCTGCCTGCGTCTTGACCTACGACCTGGTGCTCGAGGACCCGCTGGAGCTGCAC
AAGATTCGGATTCACGTCCTGGACACCAATGACAACTCACCTCTCTTTCCTGCCGGCGACGTGCAGCTGCACATCCCCGAGTTCCTGACGCCCGGAGCCC
GYTTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATC
RCGGGTTGACGGCAGCGAATACCCGGAGTTGGTGTTGGAGAAAGCACTGGATCGCGAACAGCGCGCCACCCACCTGCTGGTGCTTACAGCTCGGGACGGC
GGGCTACCTGCCCGCTCAGGAGACGCACAAGTCACCATCATTGTGGTGGACACAAATGACAACGCGCCTGTATTTGAGCGCTCCGTATACCRCACCAAGG
TTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCARTACTCCCTAAGCAACAG
CACGCAAGCAGAGCTGCGACACCGCTTTCACGTKCACCCTAAAAGTGGGGAGGTKCAAGTAGCTGCTTCACTAGGYCCGCCTGAAACGCTCTTGGAGGCA
TACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGCTGGTGGAGGTGACTGACGTGAACGATCATGCCCCCGAACTGGACT
TCCTGACTCTTTCGAACCCAGTACCTGAGGACGCTGCCCCTGGCACAGTGATTGCTCTCTTTAGTGTAAAGGATGAAGACCTCGATTCTAATGGTAGGGT
CATTTGTGGCATGTCTAGTGCAGGCCCTTTTCAGCTGACGGCTTCCTTTGACAACTACTACAGCCTGCTGATTGATGGGCCCCTGGACCGGGAGCAGATC
AGTGAATACCAAGTCCTGATCACGGCCTCAGATAGTGGCTCACCSCCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATA
CACCAAACTTTCCTCAACCCCRGCAGGAACTTTTCGTTGCTGAAAACAATGGCCCTGGGGCCTCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGG
GAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTARCTTGSTGGCAGTGGAATCATCCAGTGGGGCCATCACT
GCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGATGGTGGCATTCCTCCCAGAAGTGCAACAGTGACTATAA
ACTTGTTTGTGGTAGATAGGAATGACAATTATCCGGTTATCTTGTTTCCCTTGCCCAGAAATGGTTCTGTCCCAGTGGAAATTGTGCCCCGCTCTGCCAG
GACTGGACACTTGGTCACAAAAGTGGTAGCAGAGGATGCTGACAGTGGTTCTAATGCCTGGCTTTCCTACCACATCTCCCGGGCGTCTGACTCTAGTCTC
TTTAGAATTTCAGCCAATATAGGTGAGCTCCGTACTGCTCGCTTAGTTCTTCCCACTGATGCAGTTAAGCAGAGGGTGGTGGTAGTGGTTCGGGACCATG
GAGACCCACCACTTTCCTCCTCTGTCACTCTGGGTGTGCTGTTGAGCAACTCTGTCCCTCAGTTACTTCCAGACTTTGAAGATGTCTGGGAACCAGGAGG
GCAGCTTTCTGCCCAGAACTTGTATTTAGTAATTGCCTTGGCTTGTATTTCCTTTTTATTTCTGGGGTGCTTACTTTTCTTCGTGTGTACCAAGTTGCAC
CAGAGCCCAGGCTGTTGCKCTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATCYTTGCATGACATCAGCCACCA
TAGATGTCACTACAGTTGAGAGACTTTCTCAGACTTATCTCTATCGGGCCTCTCTGGGACTTGGTTCTGATAATAACAGTTTGCTGTTGCGTGGGGAGTA
CAATGCTGCCGACCTGCGAAATCTTGCCACTGGGGTAGGACTGAATTTGCCAATATCCTGTATTCAGATTCGGAATAGGAAAGGGGATCACGCTAATGTC
AATGCCATGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCTAC
GGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGT
CAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTGCA
ATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGA
AGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCCAG
TTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTT
CCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACC
TAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGAT
CCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATGCG
AGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGAGG
GGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCTTT
AGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCTGG
GAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTT
CCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATA
AATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCT
TTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACT
AAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGAC
CCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCTCT
TTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGCTA
TGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTAAT
TCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTTCT
TTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGC
TGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAA
TGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACA
ATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGT
CTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAAC
CATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAAT
GATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAACAC
GTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:947):
MVGCGVAVLCLWVSCGAAAGQLEYSVPEETERGVAVGNLSADLRLPAAAMSSRNFRFLSSHRELYFGVDLPSGNLVVREPADREQLCRAKAACVLTYDLV
LEDPLELHKIRIHVLDTNDNSPLFPAGDVQLHIPEFLTPGARFTLPNAQDDDEGSNGILSYSLSPSQHFRLDMGSRVDGSEYPELVLEKALDREQRATHL
LVLTARDGGLPARSGDAQVTIIVVDTNDNAPVFERSVYRTKVPETAPNGTVLFRVQALDPDEGSNGEVQYSLSNSTQAELRHRFHVHPKSGEVQVAASLG
PPETLLEAYIEARDEGVFGLASTAKLLVEVTDVNDHAPELDFLTLSNPVPEDAAPGTVIALFSVKDEDLDSNGRVICGMSSAGPFQLTASFDNYYSLLID
GPLDREQISEYQVLITASDSGSPPLSTRRTITVSVADVNDNTPNFPQPQQELFVAENNGPGASLGRVFAQDPDLGKNGLVSYELLDVISEGPSASSLVAV
ESSSGAITAKTSFDFEQLRGFHFQVEGRDGGIPPRSATVTINLFVVDRNDNYPVILFPLPRNGSVPVEIVPRSARTGHLVTKVVAEDADSGSNAWLSYHI
SRASDSSLFRISANIGELRTARLVLPTDAVKQRVVVVVRDHGDPPLSSSVTLGVLLSNSVPQLLPDFEDVWEPGGQLSAQNLYLVIALACISFLFLGCLL
FFVCTKLHQSPGCCAQSCCRSTEDLRYGSKMVSNPCMTSATIDVTTVERLSQTYLYRASLGLGSDNNSLLLRGEYNAADLRNLATGVGLNLPISCIQIRN
RKGDHANVNAMPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDK
FIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4851):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5363
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:947, None   



Context             (SEQ ID NO:4852):
TTCGTGTGTACCAAGTTGCACCAGAGCCCAGGCTGTTGCGCTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATC
Y
TTGCATGACATCAGCCACCATAGATGTCACTACAGTTGAGAGACTTTCTCAGACTTATCTCTATCGGGCCTCTCTGGGACTTGGTTCTGATAATAACAGT
Celera SNP ID:            hCV25965522
SNP Position Transcript:  2380
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 735, (P,CCT)   (L,CTT)   



Context             (SEQ ID NO:4853):
TCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTA
R
CTTGGTGGCAGTGGAATCATCCAGTGGGGCCATCACTGCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGAT
Celera SNP ID:            hCV25957245
SNP Position Transcript:  1663
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 496, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:4854):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  5021
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:947, None   



Context             (SEQ ID NO:4855):
CTTGTATTTAGTAATTGCCTTGGCTTGTATTTCCTTTTTATTTCTGGGGTGCTTACTTTTCTTCGTGTGTACCAAGTTGCACCAGAGCCCAGGCTGTTGC
K
CTCAGAGCTGCTGTCGCTCTACAGAGGATCTGAGGTATGGAAGTAAGATGGTTTCAAATCCTTGCATGACATCAGCCACCATAGATGTCACTACAGTTGA
Celera SNP ID:            hCV29063539
SNP Position Transcript:  2319
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 715, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:4856):
GCTTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATC
R
CGGGTTGACGGCAGCGAATACCCGGAGTTGGTGTTGGAGAAAGCACTGGATCGCGAACAGCGCGCCACCCACCTGCTGGTGCTTACAGCTCGGGACGGCG
Celera SNP ID:            hCV25963774
SNP Position Transcript:  701
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 175, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4857):
TCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGT
K
CACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGGTCCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTT
Celera SNP ID:            hCV2417185
SNP Position Transcript:  1034
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 286, (V,GTG)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 286, (V,GTT)   (V,GTG)      286, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:4858):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4468
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:947, None   



Context             (SEQ ID NO:4859):
CGGGACGGCGGGCTACCTGCCCGCTCAGGAGACGCACAAGTCACCATCATTGTGGTGGACACAAATGACAACGCGCCTGTATTTGAGCGCTCCGTATACC
R
CACCAAGGTTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTA
Celera SNP ID:            hCV25966809
SNP Position Transcript:  892
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 239, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:4860):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2872
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 899, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4861):
ACGGCCTCAGATAGTGGCTCACCCCCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATACACCAAACTTTCCTCAACCCC
R
GCAGGAACTTTTCGTTGCTGAAAACAATGGCCCTGGGGCCTCTCTAGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTAT
Celera SNP ID:            hCV25969442
SNP Position Transcript:  1522
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 449, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:4862):
CCGTATACCGCACCAAGGTTCCAGAGACTGCACCCAATGGGACTGTGTTATTCCGAGTTCAAGCCTTGGATCCAGATGAAGGGTCCAATGGGGAAGTCCA
R
TACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGGTCCGCCTG
Celera SNP ID:            hCV3297571
SNP Position Transcript:  983
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,8)   caucasian(A,15|G,23)   total(A,41|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 269, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,7)      total(G,4|A,7) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 269, (Q,CAA)   (Q,CAG)      269, (Q,CAG)   (Q,CAA)      



Context             (SEQ ID NO:4863):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3082
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:947, None   



Context             (SEQ ID NO:4864):
AAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGTGCAAGTAGCTGCTTCACTAGG
Y
CCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGCTGGTGGAGGTGACTGACGTGA
Celera SNP ID:            hCV3297572
SNP Position Transcript:  1076
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,10)   total(C,1|T,10) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 300, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:4865):
CCTTTGACAACTACTACAGCCTGCTGATTGATGGGCCCCTGGACCGGGAGCAGATCAGTGAATACCAAGTCCTGATCACGGCCTCAGATAGTGGCTCACC
S
CCACTTAGCACCCGAAGGACAATCACTGTGTCAGTTGCTGATGTGAATGACAATACACCAAACTTTCCTCAACCCCAGCAGGAACTTTTCGTTGCTGAAA
Celera SNP ID:            hCV3297573
SNP Position Transcript:  1445
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,9)   caucasian(C,31|G,7)   total(C,56|G,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 423, (P,CCC)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|C,5)      total(G,4|C,5) ;no_pop(C,-|G,-)   JBIC-allele(G,744|C,747)   total(G,744|C,747)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 423, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:4866):
AGGCCGAGTGTTTGCCCAGGACCCCGACCTGGGGAAGAATGGCCTTGTCTCTTATGAGCTGTTGGATGTTATCTCTGAAGGGCCATCAGCCTCTAGCTTG
S
TGGCAGTGGAATCATCCAGTGGGGCCATCACTGCCAAAACTTCCTTTGACTTTGAGCAGCTCAGGGGGTTTCATTTCCAAGTAGAAGGCCGGGATGGTGG
Celera SNP ID:            hCV3297574
SNP Position Transcript:  1668
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,27)   caucasian(C,21|G,17)   total(C,28|G,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 498, (L,CTG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|G,7)      total(G,7|C,5) ;no_pop(C,-|G,-)   JBIC-allele(C,659|G,822)   total(G,822|C,659)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 498, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:4867):
GTGGGTTTCCTGCGGCGCTGCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGGACTTGAGG
M
TGCCAGCGGCCGCTATGTCCTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTTGGTGGTCAG
Celera SNP ID:            hCV25993669
SNP Position Transcript:  309
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,33)   caucasian(C,36)   total(A,1|C,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 45, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:4868):
GCAGCGGGACAGCTCGAGTACTCAGTGCCGGAGGAGACGGAGCGGGGCGTAGCCGTAGGCAATCTCTCCGCGGACTTGAGGCTGCCAGCGGCCGCTATGT
Y
CTCGCGGAACTTTCGCTTCCTTTCCAGCCACCGCGAGCTCTACTTCGGGGTGGATCTACCCAGCGGCAATTTGGTGGTCAGAGAGCCGGCGGACCGCGAA
Celera SNP ID:            hCV25958669
SNP Position Transcript:  328
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:947, 51, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:4869):
CAGATGAAGGGTCCAATGGGGAAGTCCAATACTCCCTAAGCAACAGCACGCAAGCAGAGCTGCGACACCGCTTTCACGTGCACCCTAAAAGTGGGGAGGT
K
CAAGTAGCTGCTTCACTAGGTCCGCCTGAAACGCTCTTGGAGGCATACATTGAGGCGAGGGACGAAGGTGTCTTTGGTTTAGCTAGCACCGCTAAACTGC
Celera SNP ID:            hCV25967944
SNP Position Transcript:  1055
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 293, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:4870):
AGATTCGGATTCACGTCCTGGACACCAATGACAACTCACCTCTCTTTCCTGCCGGCGACGTGCAGCTGCACATCCCCGAGTTCCTGACGCCCGGAGCCCG
Y
TTTACTCTCCCGAATGCCCAAGATGACGACGAGGGAAGCAATGGGATACTAAGCTACAGCCTAAGCCCCAGTCAGCACTTTCGCCTGGACATGGGATCGC
Celera SNP ID:            hCV25963185
SNP Position Transcript:  602
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:947, 142, (R,CGC)   (R,CGT)   



Gene Number:                 90
Celera Gene:                 hCG1982192 - 30000034447346
Celera Transcript:           hCT2255414 - 30000034447406
Public Transcript Accession: NM_031861
Celera Protein:              hCP1894656 - 209000073752582
Public Protein Accession:    NP_114067
Gene Symbol:                 PCDHA6
Protein Name:                protocadherin alpha 6;CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6
Celera Genomic Axis:         GA_x5YUV32VUFE(34903183..35120888)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:251):
CCAGAGTAAAAAAGGGTAAAAAGGTAATATATTTTAGGGCTTAAAATAGTTATTTTTTTCCAAGATGAAAGCTATGAGTAAACTTAAACCAGAAAATCGA
CTAGTTTTAAATCTACAGAATAAACAGTAGAGCCTTCCTTTTAGCCACATGATGTCGCTGTCCACCATAGMGTGTTCTCTAGGAAGGAAAATACCCAGAG
CCCCTTTGTTACTTCAGAGAAGCGGAGGAATAAGAGAAGCAGCAGGACTTTAACAGAGACTAGAATATTTAAATTTTTGCAAAACATGCTCTTCTAATTT
GATCAAAACATTGAGGATTGGTAATGGCGTCTTCTATCAGAAGGGGCCGAGGGGCCTGGACACGGCTGCTCTCGCTTCTGCTCCTCGCAGCCTGGRAGGT
GGGGAGCGGCCAGCTCCGCTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGAGCTG
GTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGG
AGGAGCTGTGCGGGCGGAGCGCGGAATGTAGCATCCACSTGGAGGTGATCGTGGACAGGMCGCTGCAGGTTTTCCATGTGGAAGTGGAGGTGAAGGACAT
TAACGACAACCCGCCAATATTTCCAATGACAGTAAAGACTATSCGGTTTCCCGAATCAAGGCTGCTTGATTCTCGGTTTCCTCTAGAGGGAGCATCTGAT
GCAGATATAGGAGTAAATGCTCTTCTCTCCTACAAGCTCAGCTCCAGTGAGTTTTTCTTCCTAGATATACAGGCAAATGATGAACTAAGCGAATCTTTGT
CTCTCGTGCTGGGGAAATCGCTGGACAGAGAGGAAACTGCTGAGGTTAATTTGTTACTGGTGGCTACTGATGGGGGCAAACCTGAGCTCACGGGCACCGT
TCAAATACTTATTAAGGTATTAGATGTAAATGACAATGAACCAACTTTTGCCCAATCAGTTTACAAAGTAAAATTGTTAGAGAATACGGCAAATGGGACC
TTAGTGGTTAAGTTAAACGCTTCTGATGCAGATGAAGGACCGAACAGCGAGATTGTGTATTCACTCGGTAGTGATGTGTCCTCCACTATACAGACTAAGT
TTACCATAGATCCCATCTCAGGGGAAATCAGAACTAAGGGAAAATTAGATTATGAAGAAGCAAAGTCCTACGAGATTCAGGTCACTGCAACTGACAAAGG
AACCCCTTCAATGTCAGGACATTGTAAAATTTCATTAAAACTTGTGGACATCAATGATAACACACCAGAAGTCTCAATAACGTCTCTCTCACTTCCCATC
TCAGAGAACGCTTCCCTGGGCACTGTCATTGCTCTCATCACGGTGTCGGATCGCGACTCTGGTACGAATGGACATGTCACCTGCTCCCTGACGCCCCACG
TCCCTTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCAGCCTATGAGCTGGTGGTGAC
CGCACGGGACGGGGGCTCGCCTTCACTGTGGGCCACCACCAGCGTGTCCATCGAGGTGGCCGACGTGAACGACAACGCGCCGGCGTTCGCACAGCCTGAG
TACACRGTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCAGCGTGGGATGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACT
CGCTGGTGGAGCGGCGGGTGGGCGAGCGCRCGTTGTCGAGCTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGA
GGAAGTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGGGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAAC
GACAACGCGCCGGCACTGTTGGCGCCTAGGGCTGGCACCGCTGCTGGCGCAGTGAGTGAGCTGGTGCCGTGGTCGGTGGGTGCAGGGCACGTGGTGGCGA
AGGTGCGCGCAGTGGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTACGAGCTTCAGCTGGGTACTGGCAGCGCTCGCATCCCGTTCCGCGTGGGGCT
ATACACGGGTGAGATCAGCACGACACGTGCCCTAGACGAGGCTGACTCCCCTCGACACCGCCTACTCGTGCTGGTGAAGGACCACGGCGAACCAGCGTTG
ACAGCCACGGCCACCGTGTTAGTGTCGTTGGTGGAAAGTGGCCAGGCACCCAAGGCCTCGTCGCGRGCGTGGGTGGGCGCCGCGGGCTCAGAGGCTACGC
TGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGTTGGTGCTCACGGTGCTGCTGTACACTGCGCTGCGGTGCTCGGTGCC
ACCCACCGAGGGTGCGCGCGCGCCAGGAAAGCCCACGCTGGTGTGCTCCAGCGCCGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGC
TCTGGGGAGGACCYCCCCAAGACGGACCTCATGGCCTTCAGCCCTAGCTTATCTCAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAAT
ACGTAGGAAAGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATTCT
ACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGT
GTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGMCAAATTCATTATCCCAGGATCTCCTG
CAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAA
GAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGGRAACAAGCCACTTAGCC
AGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAG
TTCCCTGTGTCTGTCTAGAACGCATTTAACAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAA
CCTAAAAAGCAGACCCAAGTTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGG
ATCCTGTCTTGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTATG
CGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTTATCAGTATGGA
GGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAAACTACCCCCACTGACAAGGCT
TTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCAACAGTTCAGTGTTTTAACAGAGAACCACCCT
GGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAAAATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTT
TTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTCGCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTA
TAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAACTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTG
CTTTAAGAGAATTGCCTGAAACATCTGTATTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTA
CTAAATAAAATGATCTCTCTTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAG
ACCCAAAAATTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTCT
CTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTKAAATCAATCTCCCATATGTATGCTGTATGC
TATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTTTAAGCTTTATTGTTGAATGTA
ATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCAGCTTTTGTGTATGAAAGACACAGTAAAATTT
CTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGCCATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAA
GCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCATGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAG
AATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTA
CAATTTAGAAGTTTGATTAATTRTATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACT
GTCTTGTCTACTTTTAGCTTCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGA
ACCATTGCTACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTA
ATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATKTTAGTTACTAGTTATTACAGCTGTAAGGATAAAAC
ACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATG

Protein Sequence    (SEQ ID NO:948):
MASSIRRGRGAWTRLLSLLLLAAWKVGSGQLRYSVPEEAKHGTFVGRIAQDLGLELEELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSA
ECSIHLEVIVDRPLQVFHVEVEVKDINDNPPIFPMTVKTIRFPESRLLDSRFPLEGASDADIGVNALLSYKLSSSEFFFLDIQANDELSESLSLVLGKSL
DREETAEVNLLLVATDGGKPELTGTVQILIKVLDVNDNEPTFAQSVYKVKLLENTANGTLVVKLNASDADEGPNSEIVYSLGSDVSSTIQTKFTIDPISG
EIRTKGKLDYEEAKSYEIQVTATDKGTPSMSGHCKISLKLVDINDNTPEVSITSLSLPISENASLGTVIALITVSDRDSGTNGHVTCSLTPHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATTSVSIEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAWDADAQENALVSYSLVERRVG
ERALSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLAPRAGTAAGAVSELVPWSVGAGHVVAKVRAVDAD
SGYNAWLSYELQLGTGSARIPFRVGLYTGEISTTRALDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRAWVGAAGSEATLVDVNVYL
IIAICAVSSLLVLTVLLYTALRCSVPPTEGARAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGPDSAEEKQLSESEYVGKPRQP
NPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQE
PTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ


SNP Information

Context             (SEQ ID NO:4871):
TCGTGCTGGTGAAGGACCACGGCGAACCAGCGTTGACAGCCACGGCCACCGTGTTAGTGTCGTTGGTGGAAAGTGGCCAGGCACCCAAGGCCTCGTCGCG
R
GCGTGGGTGGGCGCCGCGGGCTCAGAGGCTACGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGTTGGTGCTCACGG
Celera SNP ID:            hCV25631175
SNP Position Transcript:  2366
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:948, 681, (R,CGA)   (R,CGG)   



Context             (SEQ ID NO:4872):
TGCCTTTTGAACTAGGAGAATCGGGCTAATTTATTAATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCAT
K
TTAGTTACTAGTTATTACAGCTGTAAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAA
Celera SNP ID:            hCV11157837
SNP Position Transcript:  5465
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:948, None   



Context             (SEQ ID NO:4873):
ACTTGTCTTGGTGTGCTAGCCTACACCTTCTCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCT
K
AAATCAATCTCCCATATGTATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAG
Celera SNP ID:            hCV985842
SNP Position Transcript:  4570
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;TSC_42_A(T,0|G,84)   TSC_42_AA(T,0|G,84)   total(G,168)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:948, None   



Context             (SEQ ID NO:4874):
GGGACGGGGGCTCGCCTTCACTGTGGGCCACCACCAGCGTGTCCATCGAGGTGGCCGACGTGAACGACAACGCGCCGGCGTTCGCACAGCCTGAGTACAC
R
GTATTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCAGCGTGGGATGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGG
Celera SNP ID:            hCV25631176
SNP Position Transcript:  1706
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,37|G,3)   total(A,73|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:948, 461, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:4875):
GAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG
M
CAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGCAAAAAG
Celera SNP ID:            hCV8939908
SNP Position Transcript:  2974
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 884, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:4876):
GCCGGGCTGCCACATCTTCACGGTGTCAGCGTGGGATGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCGC
R
CGTTGTCGAGCTACGTTTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAAGTGGAGCTGCTGCAGTTCCAGGTGAG
Celera SNP ID:            hCV25631177
SNP Position Transcript:  1830
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 503, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:4877):
ATCTGAAATATCAGCTCATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATT
R
TATTATCTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCTTCAT
Celera SNP ID:            hCV3169711
SNP Position Transcript:  5123
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:948, None   



Context             (SEQ ID NO:4878):
GCGCGCGCGCCAGGAAAGCCCACGCTGGTGTGCTCCAGCGCCGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGACC
Y
CCCCAAGACGGACCTCATGGCCTTCAGCCCTAGCTTATCTCAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAATACGTAGGAAAGCCA
Celera SNP ID:            hCV25766501
SNP Position Transcript:  2614
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 764, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 764, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:4879):
AGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAAGTGGAGGTGAAGGACATTAACGACAACCCGCCAATATTTCCAATGACAGTAAAGACTAT
S
CGGTTTCCCGAATCAAGGCTGCTTGATTCTCGGTTTCCTCTAGAGGGAGCATCTGATGCAGATATAGGAGTAAATGCTCTTCTCTCCTACAAGCTCAGCT
Celera SNP ID:            hCV25631178
SNP Position Transcript:  743
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 140, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:4880):
AATTTGATCAAAACATTGAGGATTGGTAATGGCGTCTTCTATCAGAAGGGGCCGAGGGGCCTGGACACGGCTGCTCTCGCTTCTGCTCCTCGCAGCCTGG
R
AGGTGGGGAGCGGCCAGCTCCGCTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGAGGA
Celera SNP ID:            hCV25631179
SNP Position Transcript:  396
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,14)   caucasian(A,17|G,23)   total(A,39|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 25, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:4881):
AAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAACAGTGACCAGTGAGGTCCTCAAATGG
R
AACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAATTCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTC
Celera SNP ID:            hCV15972195
SNP Position Transcript:  3184
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,144|A,1351)   total(G,144|A,1351) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:948, None   



Context             (SEQ ID NO:4882):
GCTATGAGTAAACTTAAACCAGAAAATCGACTAGTTTTAAATCTACAGAATAAACAGTAGAGCCTTCCTTTTAGCCACATGATGTCGCTGTCCACCATAG
M
GTGTTCTCTAGGAAGGAAAATACCCAGAGCCCCTTTGTTACTTCAGAGAAGCGGAGGAATAAGAGAAGCAGCAGGACTTTAACAGAGACTAGAATATTTA
Celera SNP ID:            hCV11840436
SNP Position Transcript:  171
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,5)   total(A,5|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:948, None   



Context             (SEQ ID NO:4883):
GCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCGGGCGGAGCGCGGAATGTAGCATCCACCTGGAGGTGATCGTGGACAGG
M
CGCTGCAGGTTTTCCATGTGGAAGTGGAGGTGAAGGACATTAACGACAACCCGCCAATATTTCCAATGACAGTAAAGACTATCCGGTTTCCCGAATCAAG
Celera SNP ID:            hCV29063414
SNP Position Transcript:  660
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 113, (T,ACG)   (P,CCG)      



Context             (SEQ ID NO:4884):
GGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCGGGCGGAGCGCGGAATGTAGCATCCAC
S
TGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAAGTGGAGGTGAAGGACATTAACGACAACCCGCCAATATTTCCAATGACAGTAAAGAC
Celera SNP ID:            hCV25631180
SNP Position Transcript:  639
SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,6)   caucasian(C,13|G,19)   total(C,37|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 106, (L,CTG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,7)   caucasian(C,6|G,14)   total(C,17|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:948, 106, (L,CTG)   (V,GTG)   



Gene Number:                 91
Celera Gene:                 hCG1984906 - 67000129032891
Celera Transcript:           hCT2259509 - 67000129032892
Public Transcript Accession: NM_000418
Celera Protein:              hCP1850885 - 197000069354019
Public Protein Accession:    NP_000409
Gene Symbol:                 IL4R
Protein Name:                interleukin 4 receptor;CD124;IL4RA
Celera Genomic Axis:         GA_x5YUV32VTB5(959618..994814)
Chromosome:                  Chr16
OMIM number:                 147781
OMIM Information:            INTERLEUKIN 4 RECEPTOR;IL4R


Transcript Sequence (SEQ ID NO:252):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAAATCTAGGGAAGTTGAAAAC
ATTTTGCAGTCAAAGCTATCTTTGCTRTCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTAGAGATAGTGATAAGTACT
GGGACAGACATAAACAGGGTGCTGTGATAAGAAGTCACAGGGAGGGCCCGCATTAGTTGAGGGGGGTCAGAGAAGGCTTCTGAAGTGTTTCTGGTGCAAA
TGCTTGGAAAAGGGAGAGCTGGGAGTGTATCCCAGGGCTGAGGCCAATGGAGGATTGCAGAAGAGGGAGAGGGGATAGGAGGGGAATGTTAGAGGGATAA
GCAGGGGAATTGGCTCTTTTCTTCATTTTCTTAAATTAAACTTTTTATTTTCAGATAATTAAAGATTTACACACAGCTGGAAGAAATCATAGAGAAGCCG
GGCGTGGTGGCTCATGCCTATAATCCCAGCACTTTTGGAGGCTGAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGTGCCTTGGCATC
TCCCAATGGGGTGGCTTTGCTCTGGGCTCCTGTTCCCTGTGAGCTGCCTGGTCCTGCTGCAGGTGGCAAGCTCTGGGAACATGAAGGTCTTGCAGGAGCC
CACCTGCGTCTCCGACTACATGAGCATCTCTACTTGCGAGTGGAAGATGAATGGTCCCACCAATTGCAGCACCGAGCTCCGCCTGTTGTACCAGCTGGTT
TTTCTGCTCTCCGAAGCCCACACGTGTNTCCCTGAGAACAACGGAGGCGCGGGGTGCGTGTGCCACCTGCTCATGGATGACGTGGTCAGTGCGGATAACT
ATACACTGGACCTGTGGGCTGGGCAGCAGCTGCTGTGGAAGGGCTCCTTCAAGCCCAGCGAGCATGTGAAACCCAGGGCCCCAGGAAACCTGACAGKTCA
CACCAATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGGAGT
GAAAAYGACCCGGCAGATTTCAGAATCTATAACGTGACCTACCTAGAACCCTCCCTCCGCATCGCAGCCAGCACCCTGAAGTCTGGGATTTCCTACAGGG
CACGGGTGAGGGCCTGGGCTCAGTGCTATAACACCACCTGGAGTGAGTGGAGCCCCAGCACCAAGTGGCACAACTCCTACAGGGAGCCCTTCGAGCAGCA
CCTCCTGCTGGGCGTCAGCGTTTCCTGCATTGTCATCCTGGCCGTCTGCCTGTTGTGCTATGTCAGCATCACSAAGATTAAGAAAGAATGGTGGGATCAG
ATTCCCAACCCAGCCCGCAGCCGCCTSGTGGCTATAATAATCCAGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGT
GCCCACACTGGAAGAATTGTCTTACCAAGCTCTTGCCCTGTTTYCTGGAGCACAACATGAAAAGGGATGAAGATCCTCACAAGGCTGCCAAAGAGATGCC
TTTCCAGGGCTCTGGAAAATCAGCATGGTGCCCAGTGGAGATCAGCAAGACAGTCCTCTGGCCAGAGAGCATCAGCGTGGTGCGATGTGTGGAGTTGTTT
GAGGCCCCGGTGGAGTGTGAGGAGGAGGAGGAGGTAGAGGAAGAAAAAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAA
GGGMGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTKCTYGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCAYGYCT
YCTYCCACCTTYGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTC
CACCTGGAGCCAAGTCCTCCTGCCAGCCCGACCCAGAGTCCAGACAACCTGACTTGCACAGAGACGCCCCTCGTCATCGCAGGCAACCCTGCTTACCGCA
GCTTCAGCAACYCCCTGAGCCAGTCACCGTGTCCCAGAGAGCTGGGTCCAGACCCACTGCTGGCCAGACACCTGGAGGAAGTAGAACCCGAGATGCCCTG
TGTCCCCCAGCTCTCTGAGCCAACCACTGTGCCCCAACCTGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCA
GCCCCCGTCTCGGCCCCCACCAGTGGCTATCRGGAGTTTRTACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAG
GAGAGGCTGGTTACAAGGCCTTCTCAAGCCTGCTTGCCAGCAGTGCTGTGTCCCCAGAGAAATGTGGGTTTGGGGCTAGCAGTGGGGAAGAGGGGTATAA
GCCTTTCCAAGACCTCATTCCTGGCTGCCCTGGGGACCCTGCCCCAGTCCCTGTCCCCTTGTTCACCTTTGGACTGGACAGGGAGCCACCTCGCAGTCCG
CAGAGCTCACATCTCCCAAGCAGCTCCYCAGAGCACCTGGGTCTGGAGCCGGGGGAAAAGGTAGAGGACATGCCAAAGCCCCCACTTCCCCAGGAGCAGG
CCACAGACCCCCTTGTGGACAGCCTGGGCAGTGGCATTGTCTACTCAGCCCTTACCTGCCACCTGTGCGGCCACCTGAAACAGTGTCATGGCCAGGAGGA
TGGTGGCCAGACCCCTGTCATGGCCAGTCCTTGCTGTGGCTGCTGCTGTGGAGACAGGKCCTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCT
CCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCATCYCAGAGAAGAGTAAATCCTCATCATCCTTCCATCCTGCCC
CYGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCAYGYCCTCTTGTT
GCTGAGTCTGCAGATGAGGACTAGGGCTTATYCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGSTGGCAGATTTCCAAAAGACTTGAAGAACC
ATGGTATGAAGGTGATTGGCCCCACTGACGTTGGCCTAACACTGGGCTGCAGAGACTGGACCCCGCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAG
AGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGARGCCCTTGGGMACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCT
CCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCATGGCCCACRTGGAGGCCCACCTGCCTCTGTCTCAC
TGAACTAGAAGCCGAGCCTAGAAACTAACACAGCCATCAAGGGAATGACTTGGGCGGCCTTGGGAAATCGATGAGAAATTGAACTTCAGGGAGGGTGGTC
ATTGCCTAGAGGTGCTCATTCATTTAACAGAGCTTCCTTAGGTTGATGCTGGAGGCAGAATCCCGGCTGTCAAGGGGTGTTCAGTTAAGGGGAGCAACAG
AGGACATGAAAAATTGCTRTGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGSAACCCCC
AGAATAAATATGCTCAGCCAYCCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGTGCTAGGG
AAGGCGGGAACCTTGGGTTGAGTAATGCTCGTCTGTGTGTTTTAGTTTCATCACCTGTTATCTGTGTTTGCTGAGGAGAGTGGAACAGAAGGGGTGGAGT
TTTGTATAAATAAAGTTTCTTTGTCTCTTTATTTTTTATGTATTAACCAAACATACCT

Protein Sequence    (SEQ ID NO:949):
MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRLLYQLVFLLSEAHTCVPENNGGAGCVCHLLMDDVVSADNYT
LDLWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRAR
VRAWAQCYNTTWSEWSPSTKWHNSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCP
HWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGRE
GIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSF
SNSLSQSPCPRELGPDPLLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGE
AGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPLPQEQAT
DPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPAPG
NAQSSSQTPKIVNFVSVGPTYMRVS


SNP Information

Context             (SEQ ID NO:4885):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAA
A
TCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCTATCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTA
Celera SNP ID:            hCV27077152
SNP Position Transcript:  82
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|A,4)   total(A,4|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4886):
AAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCT
K
CTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGT
Celera SNP ID:            hCV11715750
SNP Position Transcript:  1847
SNP Source:               Applera
Population(Allele,Count): african american(G,16|T,18)   caucasian(G,38)   total(G,54|T,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 414, (L,CTG)   (L,CTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(T,8|G,83)      total(G,83|T,8) ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 414, (L,CTG)   (L,CTT)      



Context             (SEQ ID NO:4887):
GGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCA
Y
GCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCC
Celera SNP ID:            hCV8903097
SNP Position Transcript:  1896
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Hutterites, South |akota(C,174|T,1213)      total(C,174|T,1213) ;no_pop(C,-|T,-)   ;PGA-AFRICAN-PANEL(C,4|T,40)   PGA-EUR(EAN-PANEL(C,6|T,40)   total(C,10|T,80)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 431, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:4888):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAA
A
ATCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCTATCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATT
Celera SNP ID:            hCV27077153
SNP Position Transcript:  81
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|-,3)   total(A,2|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4889):
GAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATG
Y
CTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTC
Celera SNP ID:            hCV11715751
SNP Position Transcript:  1898
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 431, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:4890):
GCCCCGGTGGAGTGTGAGGAGGAGGAGGAGGTAGAGGAAGAAAAAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGG
M
GGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTT
Celera SNP ID:            hCV8903098
SNP Position Transcript:  1804
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,21)   caucasian(A,40)   total(A,57|C,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 400, (E,GAG)   (A,GCG)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): IB| family(C,8|A,67)   Hutterites, South |akota(A,670|C,717)      total(A,737|C,725) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 400, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:4891):
GGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCT
Y
CTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCC
Celera SNP ID:            hCV11715752
SNP Position Transcript:  1901
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(C,6|T,79)      total(C,6|T,79) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 432, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:4892):
TGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCAGCCCCCGTCTCGGCCCCCACCAGTGGCTATCAGGAGTTT
R
TACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAGGAGAGGCTGGTTACAAGGCCTTCTCAAGCCTGCTTGCCAG
Celera SNP ID:            hCV15984178
SNP Position Transcript:  2340
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 579, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:4893):
AGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCT
Y
CCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCCACC
Celera SNP ID:            hCV11715753
SNP Position Transcript:  1904
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 433, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:4894):
CCCTGGGGACCCTGCCCCAGTCCCTGTCCCCTTGTTCACCTTTGGACTGGACAGGGAGCCACCTCGCAGTCCGCAGAGCTCACATCTCCCAAGCAGCTCC
Y
CAGAGCACCTGGGTCTGGAGCCGGGGGAAAAGGTAGAGGACATGCCAAAGCCCCCACTTCCCCAGGAGCAGGCCACAGACCCCCTTGTGGACAGCCTGGG
Celera SNP ID:            hCV15984179
SNP Position Transcript:  2628
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 675, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:4895):
CAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCATGTCCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTAT
Y
CATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGCTGGCAGATTTCCAAAAGACTTGAAGAACCATGGTATGAAGGTGATTGGCCCCACTGACGTT
Celera SNP ID:            hCV15984195
SNP Position Transcript:  3132
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,28)   total(C,57|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4896):
ACTGGACCCCGCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAGAGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGA
R
GCCCTTGGGCACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCC
Celera SNP ID:            hCV15984196
SNP Position Transcript:  3355
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,45)   total(G,45|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4897):
GCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAGAGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGAGGCCCTTGGG
M
ACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCA
Celera SNP ID:            hCV15984197
SNP Position Transcript:  3365
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|C,45)   total(A,1|C,45) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4898):
GAGGGTCTCTTAGGTGCATGTCCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTATCCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGG
S
TGGCAGATTTCCAAAAGACTTGAAGAACCATGGTATGAAGGTGATTGGCCCCACTGACGTTGGCCTAACACTGGGCTGCAGAGACTGGACCCCGCCCAGC
Celera SNP ID:            hCV11715754
SNP Position Transcript:  3171
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(G,1|C,80)      total(G,1|C,80) ;no_pop(C,-|G,-)   PGA-EUR(EAN-PANEL(G,4|C,42)   total(G,4|C,42) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4899):
CTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAAATCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCT
R
TCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTAGAGATAGTGATAAGTACTGGGACAGACATAAACAGGGTGCTGTGA
Celera SNP ID:            hCV2769585
SNP Position Transcript:  127
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4900):
CATCCTGCCCCTGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCATG
Y
CCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTATCCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGCTGGCAGATTTCCAAAAGACT
Celera SNP ID:            hCV22272125
SNP Position Transcript:  3091
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,19)   caucasian(T,28)   total(C,9|T,47)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,7|T,39)   total(C,7|T,39)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4901):
TCCATCCTGCCCCTGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCA
Y
GTCCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTATCCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGCTGGCAGATTTCCAAAAGA
Celera SNP ID:            hCV22272126
SNP Position Transcript:  3089
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,14)   caucasian(C,1|T,25)   total(C,9|T,39)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4902):
GACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGGAACCCCCAGAATAAATATGCTCAGCCA
Y
CCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGTGCTAGGGAAGGCGGGAACCTTGGGTTGA
Celera SNP ID:            hCV8903081
SNP Position Transcript:  3821
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4903):
TTCATTTAACAGAGCTTCCTTAGGTTGATGCTGGAGGCAGAATCCCGGCTGTCAAGGGGTGTTCAGTTAAGGGGAGCAACAGAGGACATGAAAAATTGCT
R
TGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGGAACCCCCAGAATAAATATGCTCAGCC
Celera SNP ID:            hCV8903085
SNP Position Transcript:  3719
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(G,16|A,31)      total(G,16|A,31) ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(G,14|A,32)   PGA-EUR(EAN-PANEL(G,21|A,23)   total(G,35|A,55)   POOLE|_CEPH(A,79|G,109)   total(G,109|A,79)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4904):
TTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCATGGCCCAC
R
TGGAGGCCCACCTGCCTCTGTCTCACTGAACTAGAAGCCGAGCCTAGAAACTAACACAGCCATCAAGGGAATGACTTGGGCGGCCTTGGGAAATCGATGA
Celera SNP ID:            hCV8903086
SNP Position Transcript:  3474
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(G,18|A,29)      total(G,18|A,29) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4905):
CTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCTCCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCATC
Y
CAGAGAAGAGTAAATCCTCATCATCCTTCCATCCTGCCCCTGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACC
Celera SNP ID:            hCV8903087
SNP Position Transcript:  2961
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Hutterites, South |akota(C,12|T,1375)      total(C,12|T,1375) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 786, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:4906):
ATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGGAGTGAAAA
Y
GACCCGGCAGATTTCAGAATCTATAACGTGACCTACCTAGAACCCTCCCTCCGCATCGCAGCCAGCACCCTGAAGTCTGGGATTTCCTACAGGGCACGGG
Celera SNP ID:            hCV2769552
SNP Position Transcript:  1106
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 167, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:4907):
GGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCT
Y
GGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCC
Celera SNP ID:            hCV25649682
SNP Position Transcript:  1850
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,39|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 415, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:4908):
CTCTACTTGCGAGTGGAAGATGAATGGTCCCACCAATTGCAGCACCGAGCTCCGCCTGTTGTACCAGCTGGTTTTTCTGCTCTCCGAAGCCCACACGTGT
N
TCCCTGAGAACAACGGAGGCGCGGGGTGCGTGTGCCACCTGCTCATGGATGACGTGGTCAGTGCGGATAACTATACACTGGACCTGTGGGCTGGGCAGCA
Celera SNP ID:            hCV2769554
SNP Position Transcript:  828
SNP Source:               Celera;HGMD;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 75, (I,ATC)   (V,GTC)      75, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:4909):
AACTATACACTGGACCTGTGGGCTGGGCAGCAGCTGCTGTGGAAGGGCTCCTTCAAGCCCAGCGAGCATGTGAAACCCAGGGCCCCAGGAAACCTGACAG
K
TCACACCAATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGG
Celera SNP ID:            hCV27957686
SNP Position Transcript:  997
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 131, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:4910):
GCATTGTCATCCTGGCCGTCTGCCTGTTGTGCTATGTCAGCATCACCAAGATTAAGAAAGAATGGTGGGATCAGATTCCCAACCCAGCCCGCAGCCGCCT
S
GTGGCTATAATAATCCAGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGTGCCCACACTGGAAGAATTGTCTTACCA
Celera SNP ID:            hCV11715747
SNP Position Transcript:  1427
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 274, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:4911):
AGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGTGCCCACACTGGAAGAATTGTCTTACCAAGCTCTTGCCCTGTTT
Y
CTGGAGCACAACATGAAAAGGGATGAAGATCCTCACAAGGCTGCCAAAGAGATGCCTTTCCAGGGCTCTGGAAAATCAGCATGGTGCCCAGTGGAGATCA
Celera SNP ID:            hCV11715748
SNP Position Transcript:  1544
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 313, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(C,1|T,40)      total(C,1|T,40) ;PGA-EUR(EAN-PANEL(C,2|T,40)   total(C,2|T,40)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 313, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:4912):
CAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCATCTCAGAGAAGAGTAAATCCTCATCATCCTTCCATCCTGCCCC
Y
GGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCATGTCCTCTTGTTGC
Celera SNP ID:            hCV22272152
SNP Position Transcript:  3002
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(T,20)   total(C,5|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 799, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 799, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:4913):
AGCAACAGAGGACATGAAAAATTGCTGTGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATG
S
AACCCCCAGAATAAATATGCTCAGCCACCCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGT
Celera SNP ID:            hCV27535828
SNP Position Transcript:  3793
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:949, None   



Context             (SEQ ID NO:4914):
ACTCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTTCCTGCATTGTCATCCTGGCCGTCTGCCTGTTGTGCTATGTCAGCATCAC
S
AAGATTAAGAAAGAATGGTGGGATCAGATTCCCAACCCAGCCCGCAGCCGCCTCGTGGCTATAATAATCCAGGATGCTCAGGGGTCACAGTGGGAGAAGC
Celera SNP ID:            hCV15984046
SNP Position Transcript:  1373
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(G,2|C,34)   total(G,2|C,34) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:949, 256, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:4915):
CCCCAACCTGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCAGCCCCCGTCTCGGCCCCCACCAGTGGCTATC
R
GGAGTTTGTACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAGGAGAGGCTGGTTACAAGGCCTTCTCAAGCCTG
Celera SNP ID:            hCV2351160
SNP Position Transcript:  2332
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): IB| family(A,-|G,-)   Hutterites, South |akota(G,249|A,1138)      total(G,249|A,1138) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 576, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:4916):
CCACCTGTGCGGCCACCTGAAACAGTGTCATGGCCAGGAGGATGGTGGCCAGACCCCTGTCATGGCCAGTCCTTGCTGTGGCTGCTGCTGTGGAGACAGG
K
CCTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCTCCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCAT
Celera SNP ID:            hCV8903091
SNP Position Transcript:  2859
SNP Source:               Applera
Population(Allele,Count): african american(G,13|T,19)   caucasian(G,1|T,17)   total(G,14|T,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 752, (A,GCC)   (S,TCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(G,1|T,88)      total(G,1|T,88) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 752, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:4917):
AAGTCCTCCTGCCAGCCCGACCCAGAGTCCAGACAACCTGACTTGCACAGAGACGCCCCTCGTCATCGCAGGCAACCCTGCTTACCGCAGCTTCAGCAAC
Y
CCCTGAGCCAGTCACCGTGTCCCAGAGAGCTGGGTCCAGACCCACTGCTGGCCAGACACCTGGAGGAAGTAGAACCCGAGATGCCCTGTGTCCCCCAGCT
Celera SNP ID:            hCV8903092
SNP Position Transcript:  2112
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): IB| family(T,11|C,58)   Hutterites, South |akota(C,287|T,1100)      total(C,345|T,1111) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   PGA-AFRICAN-PANEL(C,15|T,33)   PGA-EUR(EAN-PANEL(C,9|T,35)   total(C,24|T,68) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 503, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:4918):
GTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTT
Y
GGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCCACCTGGAGCCA
Celera SNP ID:            hCV8903093
SNP Position Transcript:  1912
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): IB| family(T,1|C,88)   Hutterites, South |akota(T,91|C,1296)      total(C,1384|T,92) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:949, 436, (S,TCG)   (L,TTG)      



Gene Number:                 92
Celera Gene:                 hCG1985715 - 106000122189513
Celera Transcript:           hCT2260764 - 106000122189514
Public Transcript Accession: NM_000042
Celera Protein:              hCP1788892 - 197000064921533
Public Protein Accession:    NP_000033
Gene Symbol:                 APOH
Protein Name:                apolipoprotein H (beta-2-glycoprotein I);B2G1;BG
Celera Genomic Axis:         GA_x5YUV32W262(1285582..1302976)
Chromosome:                  Chr17
OMIM number:                 138700
OMIM Information:            APOLIPOPROTEIN H;APOH


Transcript Sequence (SEQ ID NO:253):
CAGACRAAAACMACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGYGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCA
GGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCRTTAAAAACATTCTATGAGCCAGGAGAAGAGATTACGTATTCCTGCAAGC
CGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAATGTACACCCAGAGTATGTCCTTT
TGCTGGAATCTTAGRAAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCT
GATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCCRGAGCTTCCTGTCTGTGCTCCCATCATCTGCCCTCCACCATCCATACCTACGTTTGCAACAC
TTCGTGTTTATAAGCCATCAGCTGGAAACAATTCCCTCTATCGGGACACAGCAGTTTTTGAATGTTTGCCACAACATGCGATGTTTGGAAATGATACAAT
TACCTGCACGACACATGGAAATTGGACTAAATTACCAGAATGCAGGGAAGTAAAATGCCCATTCCCATCAAGACCAGACAATGGATTTGTGAACTATCCT
GCAAAACCAACACTTTATTACAAGGATAAAGCCACATTTGGCTGCCATGATGGATATTCTCTGGATGGCCCGGAAGAAATAGAATGTACCAAACTGGGAA
ACTGGTCTGCCATGCCAAGTTGTAAAGCATCTTGTAAAKTACCTGTGAAAAAAGCCACTGTGGTGTACCAAGGAGAGAGAGTAAAGATTCAGGAAAAATT
TAAGAATGGAATGCTACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACT
ATCRAAGTCCCCAAAKGCTTCAAGGAACACAGTTCTCTGGCTTTTTSGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCAC
AYAAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAAATTTAAAAATAAAGCTACTGAATTTATTGCCGCACCCAT

Protein Sequence    (SEQ ID NO:950):
MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTF
EYPNTISFSCNTGFYLNGADSAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNNSLYRDTAVFECLPQHAMFGNDTITCTTHGNWTKLPEC
REVKCPFPSRPDNGFVNYPAKPTLYYKDKATFGCHDGYSLDGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFC
KNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDASDVKPC


SNP Information

Context             (SEQ ID NO:4919):
CGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAATGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAG
R
AAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGC
Celera SNP ID:            hCV11939508
SNP Position Transcript:  315
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 91, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4920):
GAATGGAATGCTACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATC
R
AAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAA
Celera SNP ID:            hCV25610408
SNP Position Transcript:  1004
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 321, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4921):
CAGACGAAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAG
Y
GCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCGTTAAAA
Celera SNP ID:            hCV27492180
SNP Position Transcript:  57
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 5, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:4922):
TCGAAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACA
Y
AAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAAATTTAAAAATAAAGCTACTGAATTTATTGCCGCACCCAT
Celera SNP ID:            hCV7567311
SNP Position Transcript:  1102
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,15)   caucasian(C,17|T,23)   total(C,22|T,38)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:950, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:950, None   



Context             (SEQ ID NO:4923):
CAGAC
R
AAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGG
Celera SNP ID:            hCV27834659
SNP Position Transcript:  6
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:950, None



Context             (SEQ ID NO:4924):
CTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCC
R
GAGCTTCCTGTCTGTGCTCCCATCATCTGCCCTCCACCATCCATACCTACGTTTGCAACACTTCGTGTTTATAAGCCATCAGCTGGAAACAATTCCCTCT
Celera SNP ID:            hCV15757561
SNP Position Transcript:  439
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:950, 132, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:950, 132, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4925):
ACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATCGAAGTCCCCAAA
K
GCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAAAATGTCACACTT
Celera SNP ID:            hCV27861075
SNP Position Transcript:  1016
SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 325, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:4926):
TGGCTGCCATGATGGATATTCTCTGGATGGCCCGGAAGAAATAGAATGTACCAAACTGGGAAACTGGTCTGCCATGCCAAGTTGTAAAGCATCTTGTAAA
K
TACCTGTGAAAAAAGCCACTGTGGTGTACCAAGGAGAGAGAGTAAAGATTCAGGAAAAATTTAAGAATGGAATGCTACATGGTGATAAAGTTTCTTTCTT
Celera SNP ID:            hCV2658421
SNP Position Transcript:  839
SNP Source:               Applera
Population(Allele,Count): african american(G,12|T,14)   caucasian(G,26|T,12)   total(G,38|T,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 266, (V,GTA)   (L,TTA)   

SNP Source:               Celera;HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(T,2|G,3)      total(G,3|T,2) ;Caucasian(T,16|G,51)      total(G,51|T,16);no_pop(T,-|G,-)   ;;JBIC-allele(G,336|T,1151)   total(G,336|T,1151)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 266, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:4927):
CAGACGAAAAC
M
ACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGT
Celera SNP ID:            hCV27842286
SNP Position Transcript:  12
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,33)   caucasian(A,1|C,37)   total(A,6|C,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:950, None



Context             (SEQ ID NO:4928):
CTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCC
R
TTAAAAACATTCTATGAGCCAGGAGAAGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAG
Celera SNP ID:            hCV11939503
SNP Position Transcript:  151
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:950, 36, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4929):
AATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATCGAAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTT
S
GAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAA
Celera SNP ID:            hCV26589444
SNP Position Transcript:  1047
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Non-Hispanic Whites, Colorado(C,45|G,864)      total(G,864|C,45) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:950, 335, (S,TCG)   (W,TGG)      



Gene Number:                 92
Celera Gene:                 hCG1985715 - 106000122189513
Celera Transcript:           hCT2260766 - 106000122189539
Public Transcript Accession: NM_000042
Celera Protein:              hCP1788894 - 197000064921535
Public Protein Accession:    NP_000033
Gene Symbol:                 APOH
Protein Name:                apolipoprotein H (beta-2-glycoprotein I);B2G1;BG
Celera Genomic Axis:         GA_x5YUV32W262(1296142..1330092)
Chromosome:                  Chr17
OMIM number:                 138700
OMIM Information:            APOLIPOPROTEIN H;APOH


Transcript Sequence (SEQ ID NO:254):
GATGGAGTCTCGCTTTGTCACTCAGGCTGGAGTGAAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGC
CTCCGGAGTAGCTGGGATTACAGCAGACRAAAACMACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGYGCTCATCTTGTTCTCGAGTT
TTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCRTTAAAAACATTCTATGAGCCAGGAGA
AGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAA
TGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAGRAAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACA
CTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCCRGAGCTTCCTGTCTGTGCTCGTAAGTCTGTGGGCAAGGT
GATCAGCTGGTTTGCCCAGAACCTTTCTGGTTTTAGCACTCAAAGTCTCACATCTGGAATCTCTTCAGTCACAGCTCAATGAGATGAATGGTCACCCTTG
TGGGGGATATTCATCCTGGTATCTTGCTCTAGAAGATGAAACAACCACTTTGGAATGACAGAAGGGAAGCATTTTACTCACGGACACATTCTGTATTCTC
CACCTCGCGGTCATTACTCTATCTAAGCCAGTCATTTCTGGGTGTGTTGACTCCAATGCTCTCATAGTGCTTTGGAAGTGGCTTGGATATGTGTGGCATT
GGTATATCAGGGACTGTCACCACTTAACTAGAGGAACTTCTGCAAACAGTGAGATCAAACAAACATCTTCCTCCCACTCTGGAATTCATTCATTCATTTA
TTAACTTATTCAATAAACATGAATTGAGGATCTACTGTATGCTGGATCCTCTTGTTAGCACTGAGGCTGCAAGGCCAAAGGAGGCAGCTTTGCCTTCAGA
GAGTAAGCCTAGTGACTTACGGGACAGACGAGGAGGAAAGTCACCCTCACAGTAAGCCAACAGCCCATCAAAGGGGCTTGCATCCTAGGAGCTGATTGGC
ATTCCTCCAAAAAGCACTGTTGTTTTTTCAGAGGATCCTCAGCCAAGCTGTCAGAGTCATCTCTGGGCTTTGCTTATGTAGGGAAGGACGTTCTTATGTT
CCCCAACTTGTGATTTATACATCTTTGACCAGGAGGCCCAGGCATTTCAATACTAATTATAGTTCTTCAACATGTCAGTGARGTCTGTCTTTAGCAAAAG
CAAGAGGAGGGCAGGTGCAGTGGTTCACGCCTGTAATGCCAGCACTTTGGGAGTCCGAGGAGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTG
ACCAACATGGAGAAACTCCGTCTCTACTAAAAATATAAAATCAGCTGGGCATGGTGGCGCATGCCTCTAATCCCAGCCAATTGGGAGGCTGAGGCAAGAG
AATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTC

Protein Sequence    (SEQ ID NO:951):
MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTF
EYPNTISFSCNTGFYLNGADSAKCTEEGKWSPELPVCARKSVGKVISWFAQNLSGFSTQSLTSGISSVTAQ


SNP Information

Context             (SEQ ID NO:4930):
CGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAATGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAG
R
AAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGC
Celera SNP ID:            hCV11939508
SNP Position Transcript:  438
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:951, 91, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4931):
AAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGACGAAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAG
Y
GCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCGTTAAAA
Celera SNP ID:            hCV27492180
SNP Position Transcript:  180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:951, 5, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:4932):
AAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGACGAAAAC
M
ACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGT
Celera SNP ID:            hCV27842286
SNP Position Transcript:  135
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,33)   caucasian(A,1|C,37)   total(A,6|C,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:951, None



Context             (SEQ ID NO:4933):
CTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCC
R
TTAAAAACATTCTATGAGCCAGGAGAAGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAG
Celera SNP ID:            hCV11939503
SNP Position Transcript:  274
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:951, 36, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4934):
GGAGTGAAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGAC
R
AAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGG
Celera SNP ID:            hCV27834659
SNP Position Transcript:  129
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:951, None



Context             (SEQ ID NO:4935):
CTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCC
R
GAGCTTCCTGTCTGTGCTCGTAAGTCTGTGGGCAAGGTGATCAGCTGGTTTGCCCAGAACCTTTCTGGTTTTAGCACTCAAAGTCTCACATCTGGAATCT
Celera SNP ID:            hCV15757561
SNP Position Transcript:  562
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:951, 132, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:951, 132, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4936):
GGAAGGACGTTCTTATGTTCCCCAACTTGTGATTTATACATCTTTGACCAGGAGGCCCAGGCATTTCAATACTAATTATAGTTCTTCAACATGTCAGTGA
R
GTCTGTCTTTAGCAAAAGCAAGAGGAGGGCAGGTGCAGTGGTTCACGCCTGTAATGCCAGCACTTTGGGAGTCCGAGGAGGGTGGCTCACCTGAGGTCAG
Celera SNP ID:            hCV27485243
SNP Position Transcript:  1382
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:951, None   



Gene Number:                 92
Celera Gene:                 hCG1985715 - 106000122189513
Celera Transcript:           hCT2260765 - 106000122189526
Public Transcript Accession: NM_000042
Celera Protein:              hCP1788893 - 197000064921534
Public Protein Accession:    NP_000033
Gene Symbol:                 APOH
Protein Name:                apolipoprotein H (beta-2-glycoprotein I);B2G1;BG
Celera Genomic Axis:         GA_x5YUV32W262(1285582..1330092)
Chromosome:                  Chr17
OMIM number:                 138700
OMIM Information:            APOLIPOPROTEIN H;APOH


Transcript Sequence (SEQ ID NO:255):
GATGGAGTCTCGCTTTGTCACTCAGGCTGGAGTGAAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGC
CTCCGGAGTAGCTGGGATTACAGCAGACRAAAACMACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGYGCTCATCTTGTTCTCGAGTT
TTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCRTTAAAAACATTCTATGAGCCAGGAGA
AGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAA
TGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAGRAAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACA
CTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCCRGAGCTTCCTGTCTGTGCTCCCATCATCTGCCCTCCACC
ATCCATACCTACGTTTGCAACACTTCGTGTTTATAAGCCATCAGCTGGAAACAATTCCCTCTATCGGGACACAGCAGTTTTTGAATGTTTGCCACAACAT
GCGATGTTTGGAAATGATACAATTACCTGCACGACACATGGAAATTGGACTAAATTACCAGAATGCAGGGAAGTAAAATGCCCATTCCCATCAAGACCAG
ACAATGGATTTGTGAACTATCCTGCAAAACCAACACTTTATTACAAGGATAAAGCCACATTTGGCTGCCATGATGGATATTCTCTGGATGGCCCGGAAGA
AATAGAATGTACCAAACTGGGAAACTGGTCTGCCATGCCAAGTTGTAAAGCATCTTGTAAAKTACCTGTGAAAAAAGCCACTGTGGTGTACCAAGGAGAG
AGAGTAAAGATTCAGGAAAAATTTAAGAATGGAATGCTACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGG
ATGCTCAGTGTATAGATGGCACTATCRAAGTCCCCAAAKGCTTCAAGGAACACAGTTCTCTGGCTTTTTSGAAAACTGATGCATCCGATGTAAAGCCATG
CTAAGGTGGTTTTCAGATTCCACAYAAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAAATTTAAAAATAAAGCTACTGAATTTATTGC
CGCACCCAT

Protein Sequence    (SEQ ID NO:952):
MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTF
EYPNTISFSCNTGFYLNGADSAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNNSLYRDTAVFECLPQHAMFGNDTITCTTHGNWTKLPEC
REVKCPFPSRPDNGFVNYPAKPTLYYKDKATFGCHDGYSLDGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFC
KNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDASDVKPC


SNP Information

Context             (SEQ ID NO:4937):
CGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGACTGTGGCCCATCAACACTCTGAAATGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAG
R
AAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGC
Celera SNP ID:            hCV11939508
SNP Position Transcript:  438
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 91, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:4938):
GAATGGAATGCTACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATC
R
AAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAA
Celera SNP ID:            hCV25610408
SNP Position Transcript:  1127
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 321, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:4939):
AAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGACGAAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAG
Y
GCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCCGTTAAAA
Celera SNP ID:            hCV27492180
SNP Position Transcript:  180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 5, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:4940):
TCGAAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACA
Y
AAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAAATTTAAAAATAAAGCTACTGAATTTATTGCCGCACCCAT
Celera SNP ID:            hCV7567311
SNP Position Transcript:  1225
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,15)   caucasian(C,17|T,23)   total(C,22|T,38)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:952, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:952, None   



Context             (SEQ ID NO:4941):
GGAGTGAAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGAC
R
AAAACCACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGG
Celera SNP ID:            hCV27834659
SNP Position Transcript:  129
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:952, None



Context             (SEQ ID NO:4942):
CTTTTGAATATCCCAACACGATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCC
R
GAGCTTCCTGTCTGTGCTCCCATCATCTGCCCTCCACCATCCATACCTACGTTTGCAACACTTCGTGTTTATAAGCCATCAGCTGGAAACAATTCCCTCT
Celera SNP ID:            hCV15757561
SNP Position Transcript:  562
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:952, 132, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:952, 132, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4943):
ACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATCGAAGTCCCCAAA
K
GCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAAAATGTCACACTT
Celera SNP ID:            hCV27861075
SNP Position Transcript:  1139
SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 325, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:4944):
TGGCTGCCATGATGGATATTCTCTGGATGGCCCGGAAGAAATAGAATGTACCAAACTGGGAAACTGGTCTGCCATGCCAAGTTGTAAAGCATCTTGTAAA
K
TACCTGTGAAAAAAGCCACTGTGGTGTACCAAGGAGAGAGAGTAAAGATTCAGGAAAAATTTAAGAATGGAATGCTACATGGTGATAAAGTTTCTTTCTT
Celera SNP ID:            hCV2658421
SNP Position Transcript:  962
SNP Source:               Applera
Population(Allele,Count): african american(G,12|T,14)   caucasian(G,26|T,12)   total(G,38|T,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 266, (V,GTA)   (L,TTA)   

SNP Source:               Celera;HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(T,2|G,3)      total(G,3|T,2) ;Caucasian(T,16|G,51)      total(G,51|T,16);no_pop(T,-|G,-)   ;;JBIC-allele(G,336|T,1151)   total(G,336|T,1151)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 266, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:4945):
AAGTGGCATGATCTTGGTTCACTGCAACCACTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGCAGACGAAAAC
M
ACTTTGGTAGTGCCAGTGTGACTCATCCACAATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGT
Celera SNP ID:            hCV27842286
SNP Position Transcript:  135
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,33)   caucasian(A,1|C,37)   total(A,6|C,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:952, None



Context             (SEQ ID NO:4946):
CTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTCCC
R
TTAAAAACATTCTATGAGCCAGGAGAAGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAG
Celera SNP ID:            hCV11939503
SNP Position Transcript:  274
SNP Source:               HGBASE
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:952, 36, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:4947):
AATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGTATAGATGGCACTATCGAAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTT
S
GAAAACTGATGCATCCGATGTAAAGCCATGCTAAGGTGGTTTTCAGATTCCACATAAAATGTCACACTTGTTTCTTGTTCATCCAAGGAACCTAATTGAA
Celera SNP ID:            hCV26589444
SNP Position Transcript:  1170
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Non-Hispanic Whites, Colorado(C,45|G,864)      total(G,864|C,45) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:952, 335, (S,TCG)   (W,TGG)      



Gene Number:                 93
Celera Gene:                 hCG1986921 - 208000027364706
Celera Transcript:           hCT2262553 - 208000027364728
Public Transcript Accession: NM_016115
Celera Protein:              hCP1815635 - 208000027364690
Public Protein Accession:    NP_057199
Gene Symbol:                 ASB3
Protein Name:                ankyrin repeat and SOCS box-containing 3;ASB-3;FLJ10123;FLJ10421;MGC12531;MGC996
Celera Genomic Axis:         GA_x5YUV32W5TR(33034656..33151511)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:256):
CAGCACGGCAGGTCGGTGAGTCTCGGAGGCGGCAGCCGCTTCCTGAAGCCATTCCCGCTGCTCTCCAGTGGGCAGGCAGAGGTTTGACCCACACGGAGTG
ATAGCGGGAAGAAGACAGTGTGAACCRTGCGGGTGCGGGTCCTTAGATGAGAAAATTCGAAGTAGCGATGAGATGTGAGAAATGGCGGTGTTCCTGACTG
ACCTGCCTTCTTGCAGCTTTTCTTCTTTTTCTCCGCATTTGGCATTTGTACACTTCATTTTTCCCGCTTGAGGCTTATCTCCATCTCTTCTGCTGTGGAC
CGTGGCCATCTCGTTACTTAACAGCTTCTGACTAACGCAGGGCAGTTTGTTCAGCGACTGCAACTCTGTGTTAGGGGAAACCTGGGGTGAGGTAGCCCGC
CATCTCCCCGTAGACTGGTCAAACAAATGGATTTTACAGAGGCTTACGCGGACACGTGCTCTACAGTTGGACTTGCTGCCAGGGAAGGCAATGTTAAAGT
CTTAAGGAAACTGSTCAAAAAGGGCCGAAGTGTCGATGTTGCWGATAACAGGGGATGGATGCCAATTCATGAAGCAGCTTATCACAACTCTGTAGAATGT
TTGCAAATGTTAATTAATGCAGATTCATCTGAAAACTACATTAAGATGAAGACCTTTGAAGGTTTCTGTGCTTTGCATCTCGCTGCAAGTCAAGGACATT
GGAAAATCGTACAGATTCTTTTAGAAGCTGGGGCAGATCCTAATGCAACTACTTTAGAAGAAACGACACCATTGTTTTTAGAGGAAGCATTTATTGAGGC
TCAGCTATACGCAATCTCCATTCTAGCCGCTTTCCTCAAGAAATCGTCTACGTGGAGGAGTAAAAAAGCTGTTGAAAATGGACAGATAGATGTGTTAAGG
STGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGAWAATGCTGAGATCATAA
AATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAG
CATACTTATTTCATCRGGTGCAAATGTCAATTGTCAAGCCTTGGACAAAGCTACACCCTTGTTCATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAG
CTTTTGCTCTCCAGTGGGGCAGATCCTGATCTTTACTGTAATGAGGACAGTTGGCAGTTACCTATTCATGCAGCTGCACAAATGGGCCATACAAAAATCT
TGGACTTGTTAATACCACTTACTAACCGGRCCTGTGACACTGGGCTAAACAAAGTAAGCCCTGTTTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCT
AGAAATATTACTCCGGAATGGCTACAGCCCAGACGCCCAGGCGTGCCTTGTTTTTGGATTCAGTTCTCCTGTGTGCATGGCTTTCCAAAAGGACTGTGAG
TTCTTTGGAATTGTGAACATTCTTTTGAAATATGGAGCCCAGATAAATGAACTTCATTTGGCATACTGCCTGAAGTACGAGAAGTTTTCGATATTTCGCT
ACTTTTTGAGGAAAGGTTGCTCATTGGGACCATGGAACCATATATATGAATTTGTAAATCATGCAATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCC
ACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTGCAATTCTTGKATTGACTCAGTCAGCATTGACACCCTTATCTTCACTTTGGAGTTTACT
AATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCTGCTCGTGCCTCAAACGCTTGGATTCTACAGCAACATATTGCCACTGTTCCATCCCTGA
CCCATCTTTGTCGTTTGGAAATTCGGTCCAGTCTAAAATCAGAACGTCTACGGTCTGACAGTTATATTAGTCAGCTGCCACTTCCCAGAAGCCTACATAA
TTATTTGCTCTATGAAGACGTTCTGAGGATGTATGAAGTTCCAGAACTGGCAGCTATTCAAGATGGATAAATCAGTGAAACTACTTAACACAGCTAATTT
TTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTACAAGTTTTTATGATTTTATAGTCAAAAGATGATTATTGATTGTSAGATAGGTTAGGTTT
TGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACTAGCCTTCCCAGTAAAAAAAAAAAAAAAAAAAAAAAAAATTGTAAACATCACTTATATT
ACTTTATTGCAGCTTCATCACCAGTACATTATATGTTGTAATATTTATTTACCTGATCATTTTGATCATTTTCTGCTTTATTTTGCTAATAAACTGTGAT
GTTACTTCTAGTGCTAAACATGGCATATTTCCACCTATGATTCGTGTTTACCTGGTATTAGGAGCTCAGAATGGAATGCATAAAGCTTCACTGGAAGTGT
ATACAACTGTGGTGTAGAATCTGTTATTATTATCATTATTATTTTATTTAGACTTGACTATCTCTTATGTTTATTAAAGAACATGTTTTCCTATTC

Protein Sequence    (SEQ ID NO:953):
MDFTEAYADTCSTVGLAAREGNVKVLRKLLKKGRSVDVADNRGWMPIHEAAYHNSVECLQMLINADSSENYIKMKTFEGFCALHLAASQGHWKIVQILLE
AGADPNATTLEETTPLFLEEAFIEAQLYAISILAAFLKKSSTWRSKKAVENGQIDVLRLLLQHGANVNGSHSMCGWNSLHQASFQENAEIIKLLLRKGAN
KECQDDFGITPLFVAAQYGKLESLSILISSGANVNCQALDKATPLFIAAQEGHTKCVELLLSSGADPDLYCNEDSWQLPIHAAAQMGHTKILDLLIPLTN
RACDTGLNKVSPVYSAVFGGHEDCLEILLRNGYSPDAQACLVFGFSSPVCMAFQKDCEFFGIVNILLKYGAQINELHLAYCLKYEKFSIFRYFLRKGCSL
GPWNHIYEFVNHAIKAQAKYKEWLPHLLVAGFDPLILLCNSWIDSVSIDTLIFTLEFTNWKTLAPAVERMLSARASNAWILQQHIATVPSLTHLCRLEIR
SSLKSERLRSDSYISQLPLPRSLHNYLLYEDVLRMYEVPELAAIQDG


SNP Information

Context             (SEQ ID NO:4948):
TTAACACAGCTAATTTTTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTACAAGTTTTTATGATTTTATAGTCAAAAGATGATTATTGATTGT
S
AGATAGGTTAGGTTTTGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACTAGCCTTCCCAGTAAAAAAAAAAAAAAAAAAAAAAAAAATTGTA
Celera SNP ID:            hCV7546205
SNP Position Transcript:  2185
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   POOLE|_CEPH(G,26|C,162)   total(G,26|C,162)JBIC-allele(C,554|G,921)   total(G,921|C,554)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:953, None   



Context             (SEQ ID NO:4949):
AGATAGATGTGTTAAGGCTGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGA
W
AATGCTGAGATCATAAAATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCA
Celera SNP ID:            hCV7546198
SNP Position Transcript:  984
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|T,1)   total(A,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:953, 186, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:4950):
AAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAGCATACTTATTTCATC
R
GGTGCAAATGTCAATTGTCAAGCCTTGGACAAAGCTACACCCTTGTTCATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAGCTTTTGCTCTCCAGTG
Celera SNP ID:            hCV22274050
SNP Position Transcript:  1116
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,8|G,30)   total(A,18|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:953, 230, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4951):
TCTTTACTGTAATGAGGACAGTTGGCAGTTACCTATTCATGCAGCTGCACAAATGGGCCATACAAAAATCTTGGACTTGTTAATACCACTTACTAACCGG
R
CCTGTGACACTGGGCTAAACAAAGTAAGCCCTGTTTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCTAGAAATATTACTCCGGAATGGCTACAGCCC
Celera SNP ID:            hCV25649040
SNP Position Transcript:  1330
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,30)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:953, 302, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:4952):
AGGCGGCAGCCGCTTCCTGAAGCCATTCCCGCTGCTCTCCAGTGGGCAGGCAGAGGTTTGACCCACACGGAGTGATAGCGGGAAGAAGACAGTGTGAACC
R
TGCGGGTGCGGGTCCTTAGATGAGAAAATTCGAAGTAGCGATGAGATGTGAGAAATGGCGGTGTTCCTGACTGACCTGCCTTCTTGCAGCTTTTCTTCTT
Celera SNP ID:            hCV27846017
SNP Position Transcript:  127
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:953, None



Context             (SEQ ID NO:4953):
CTTACGCGGACACGTGCTCTACAGTTGGACTTGCTGCCAGGGAAGGCAATGTTAAAGTCTTAAGGAAACTGCTCAAAAAGGGCCGAAGTGTCGATGTTGC
W
GATAACAGGGGATGGATGCCAATTCATGAAGCAGCTTATCACAACTCTGTAGAATGTTTGCAAATGTTAATTAATGCAGATTCATCTGAAAACTACATTA
Celera SNP ID:            hCV16182010
SNP Position Transcript:  543
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,37)   caucasian(T,38)   total(A,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:953, 39, (A,GCA)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:953, 39, (A,GCA)   (A,GCT)      



Context             (SEQ ID NO:4954):
TTGTAAATCATGCAATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCCACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTGCAATTCTTG
K
ATTGACTCAGTCAGCATTGACACCCTTATCTTCACTTTGGAGTTTACTAATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCTGCTCGTGCCT
Celera SNP ID:            hCV27470619
SNP Position Transcript:  1752
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:953, 442, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4955):
ACTGGTCAAACAAATGGATTTTACAGAGGCTTACGCGGACACGTGCTCTACAGTTGGACTTGCTGCCAGGGAAGGCAATGTTAAAGTCTTAAGGAAACTG
S
TCAAAAAGGGCCGAAGTGTCGATGTTGCTGATAACAGGGGATGGATGCCAATTCATGAAGCAGCTTATCACAACTCTGTAGAATGTTTGCAAATGTTAAT
Celera SNP ID:            hCV25649034
SNP Position Transcript:  514
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,33|G,1)   total(C,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:953, 30, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:4956):
TCAGCTATACGCAATCTCCATTCTAGCCGCTTTCCTCAAGAAATCGTCTACGTGGAGGAGTAAAAAAGCTGTTGAAAATGGACAGATAGATGTGTTAAGG
S
TGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGAAAATGCTGAGATCATAAA
Celera SNP ID:            hCV25649035
SNP Position Transcript:  901
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:953, 159, (L,CTG)   (V,GTG)   



Gene Number:                 93
Celera Gene:                 hCG1986921 - 208000027364706
Celera Transcript:           hCT2262560 - 208000027364707
Public Transcript Accession: NM_016115
Celera Protein:              hCP1815634 - 208000027364696
Public Protein Accession:    NP_057199
Gene Symbol:                 ASB3
Protein Name:                ankyrin repeat and SOCS box-containing 3;ASB-3;FLJ10123;FLJ10421;MGC12531;MGC996
Celera Genomic Axis:         GA_x5YUV32W5TR(33034618..33151511)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:257):
GACGCGGCCTCGGACCAGCCATTTCGGTGTAGAAGTGGCAGCACGGCAGATGGATTTTACAGAGGCTTACGCGGACACGTGCTCTACAGTTGGACTTGCT
GCCAGGGAAGGCAATGTTAAAGTCTTAAGGAAACTGSTCAAAAAGGGCCGAAGTGTCGATGTTGCWGATAACAGGGGATGGATGCCAATTCATGAAGCAG
CTTATCACAACTCTGTAGAATGTTTGCAAATGTTAATTAATGCAGATTCATCTGAAAACTACATTAAGATGAAGACCTTTGAAGGTTTCTGTGCTTTGCA
TCTCGCTGCAAGTCAAGGACATTGGAAAATCGTACAGATTCTTTTAGAAGCTGGGGCAGATCCTAATGCAACTACTTTAGAAGAAACGACACCATTGTTT
TTAGCTGTTGAAAATGGACAGATAGATGTGTTAAGGSTGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGC
ACCAGGCTTCTTTTCAGGAWAATGCTGAGATCATAAAATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATT
TGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAGCATACTTATTTCATCRGGTGCAAATGTCAATTGTCAAGCCTTGGACAAAGCTACACCCTTGTTC
ATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAGCTTTTGCTCTCCAGTGGGGCAGATCCTGATCTTTACTGTAATGAGGACAGTTGGCAGTTACCTA
TTCATGCAGCTGCACAAATGGGCCATACAAAAATCTTGGACTTGTTAATACCACTTACTAACCGGRCCTGTGACACTGGGCTAAACAAAGTAAGCCCTGT
TTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCTAGAAATATTACTCCGGAATGGCTACAGCCCAGACGCCCAGGCGTGCCTTGTTTTTGGATTCAGT
TCTCCTGTGTGCATGGCTTTCCAAAAGGACTGTGAGTTCTTTGGAATTGTGAACATTCTTTTGAAATATGGAGCCCAGATAAATGAACTTCATTTGGCAT
ACTGCCTGAAGTACGAGAAGTTTTCGATATTTCGCTACTTTTTGAGGAAAGGTTGCTCATTGGGACCATGGAACCATATATATGAATTTGTAAATCATGC
AATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCCACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTGCAATTCTTGKATTGACTCAGTC
AGCATTGACACCCTTATCTTCACTTTGGAGTTTACTAATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCTGCTCGTGCCTCAAACGCTTGGA
TTCTACAGCAACATATTGCCACTGTTCCATCCCTGACCCATCTTTGTCGTTTGGAAATTCGGTCCAGTCTAAAATCAGAACGTCTACGGTCTGACAGTTA
TATTAGTCAGCTGCCACTTCCCAGAAGCCTACATAATTATTTGCTCTATGAAGACGTTCTGAGGATGTATGAAGTTCCAGAACTGGCAGCTATTCAAGAT
GGATAAATCAGTGAAACTACTTAACACAGCTAATTTTTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTACAAGTTTTTATGATTTTATAGTC
AAAAGATGATTATTGATTGTSAGATAGGTTAGGTTTTGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACTAGCCTTCCCAGTAAAAAAAAAA
AAAAAAAAAAAAAAAATTGTAAACATCACTTATATTACTTTATTGCAGCTTCATCACCAGTACATTATATGTTGTAATATTTATTTACCTGATCATTTTG
ATCATTTTCTGCTTTATTTTGCTAATAAACTGTGATGTTACTTCTAGTGCTAAACATGGCATATTTCCACCTATGATTCGTGTTTACCTGGTATTAGGAG
CTCAGAATGGAATGCATAAAGCTTCACTGGAAGTGTATACAACTGTGGTGTAGAATCTGTTATTATTATCATTATTATTTTATTTAGACTTGACTATCTC
TTATGTTTATTAAAGAACATGTTTTCCTATTC

Protein Sequence    (SEQ ID NO:954):
MDFTEAYADTCSTVGLAAREGNVKVLRKLLKKGRSVDVADNRGWMPIHEAAYHNSVECLQMLINADSSENYIKMKTFEGFCALHLAASQGHWKIVQILLE
AGADPNATTLEETTPLFLAVENGQIDVLRLLLQHGANVNGSHSMCGWNSLHQASFQENAEIIKLLLRKGANKECQDDFGITPLFVAAQYGKLESLSILIS
SGANVNCQALDKATPLFIAAQEGHTKCVELLLSSGADPDLYCNEDSWQLPIHAAAQMGHTKILDLLIPLTNRACDTGLNKVSPVYSAVFGGHEDCLEILL
RNGYSPDAQACLVFGFSSPVCMAFQKDCEFFGIVNILLKYGAQINELHLAYCLKYEKFSIFRYFLRKGCSLGPWNHIYEFVNHAIKAQAKYKEWLPHLLV
AGFDPLILLCNSWIDSVSIDTLIFTLEFTNWKTLAPAVERMLSARASNAWILQQHIATVPSLTHLCRLEIRSSLKSERLRSDSYISQLPLPRSLHNYLLY
EDVLRMYEVPELAAIQDG


SNP Information

Context             (SEQ ID NO:4957):
TTAACACAGCTAATTTTTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTACAAGTTTTTATGATTTTATAGTCAAAAGATGATTATTGATTGT
S
AGATAGGTTAGGTTTTGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACTAGCCTTCCCAGTAAAAAAAAAAAAAAAAAAAAAAAAAATTGTA
Celera SNP ID:            hCV7546205
SNP Position Transcript:  1721
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   POOLE|_CEPH(G,26|C,162)   total(G,26|C,162)JBIC-allele(C,554|G,921)   total(G,921|C,554)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:954, None   



Context             (SEQ ID NO:4958):
AGATAGATGTGTTAAGGCTGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGA
W
AATGCTGAGATCATAAAATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCA
Celera SNP ID:            hCV7546198
SNP Position Transcript:  520
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|T,1)   total(A,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:954, 157, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:4959):
AAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAGCATACTTATTTCATC
R
GGTGCAAATGTCAATTGTCAAGCCTTGGACAAAGCTACACCCTTGTTCATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAGCTTTTGCTCTCCAGTG
Celera SNP ID:            hCV22274050
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,8|G,30)   total(A,18|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:954, 201, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4960):
TCTTTACTGTAATGAGGACAGTTGGCAGTTACCTATTCATGCAGCTGCACAAATGGGCCATACAAAAATCTTGGACTTGTTAATACCACTTACTAACCGG
R
CCTGTGACACTGGGCTAAACAAAGTAAGCCCTGTTTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCTAGAAATATTACTCCGGAATGGCTACAGCCC
Celera SNP ID:            hCV25649040
SNP Position Transcript:  866
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,30)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:954, 273, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:4961):
CTTACGCGGACACGTGCTCTACAGTTGGACTTGCTGCCAGGGAAGGCAATGTTAAAGTCTTAAGGAAACTGCTCAAAAAGGGCCGAAGTGTCGATGTTGC
W
GATAACAGGGGATGGATGCCAATTCATGAAGCAGCTTATCACAACTCTGTAGAATGTTTGCAAATGTTAATTAATGCAGATTCATCTGAAAACTACATTA
Celera SNP ID:            hCV16182010
SNP Position Transcript:  166
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,37)   caucasian(T,38)   total(A,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:954, 39, (A,GCA)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:954, 39, (A,GCA)   (A,GCT)      



Context             (SEQ ID NO:4962):
TTGTAAATCATGCAATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCCACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTGCAATTCTTG
K
ATTGACTCAGTCAGCATTGACACCCTTATCTTCACTTTGGAGTTTACTAATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCTGCTCGTGCCT
Celera SNP ID:            hCV27470619
SNP Position Transcript:  1288
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:954, 413, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4963):
GGCAGCACGGCAGATGGATTTTACAGAGGCTTACGCGGACACGTGCTCTACAGTTGGACTTGCTGCCAGGGAAGGCAATGTTAAAGTCTTAAGGAAACTG
S
TCAAAAAGGGCCGAAGTGTCGATGTTGCTGATAACAGGGGATGGATGCCAATTCATGAAGCAGCTTATCACAACTCTGTAGAATGTTTGCAAATGTTAAT
Celera SNP ID:            hCV25649034
SNP Position Transcript:  137
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,33|G,1)   total(C,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:954, 30, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:4964):
GATTCTTTTAGAAGCTGGGGCAGATCCTAATGCAACTACTTTAGAAGAAACGACACCATTGTTTTTAGCTGTTGAAAATGGACAGATAGATGTGTTAAGG
S
TGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGAAAATGCTGAGATCATAAA
Celera SNP ID:            hCV25649035
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:954, 130, (L,CTG)   (V,GTG)   



Gene Number:                 93
Celera Gene:                 hCG1986921 - 208000027364706
Celera Transcript:           hCT2262558 - 208000027364686
Public Transcript Accession: NM_016115
Celera Protein:              hCP1815633 - 208000027364693
Public Protein Accession:    NP_057199
Gene Symbol:                 ASB3
Protein Name:                ankyrin repeat and SOCS box-containing 3;ASB-3;FLJ10123;FLJ10421;MGC12531;MGC996
Celera Genomic Axis:         GA_x5YUV32W5TR(33034500..33151511)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:258):
GGTCGCGGAGCCGTCCGCCTACGGGGGCCGGGACGTCGCCTGCGCGTCTCTCGTTTTCGGACGGCTGCAGCATCGCGGTGGGRATCGAAAGCGGGGGCTT
CTGGGACGCAGCTCTGGAGACGCGGCCTCGGACCAGCCATTTCGGTGTAGAAGTGGCAGCACGGCAGATTCATCTGAAAACTACATTAAGATGAAGACCT
TTGAAGGTTTCTGTGCTTTGCATCTCGCTGCAAGTCAAGGACATTGGAAAATCGTACAGATTCTTTTAGAAGCTGGGGCAGATCCTAATGCAACTACTTT
AGAAGAAACGACACCATTGTTTTTAGCTGTTGAAAATGGACAGATAGATGTGTTAAGGSTGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCT
ATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGAWAATGCTGAGATCATAAAATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATG
ACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAGCATACTTATTTCATCRGGTGCAAATGTCAATTGTCAAGCCTT
GGACAAAGCTACACCCTTGTTCATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAGCTTTTGCTCTCCAGTGGGGCAGATCCTGATCTTTACTGTAAT
GAGGACAGTTGGCAGTTACCTATTCATGCAGCTGCACAAATGGGCCATACAAAAATCTTGGACTTGTTAATACCACTTACTAACCGGRCCTGTGACACTG
GGCTAAACAAAGTAAGCCCTGTTTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCTAGAAATATTACTCCGGAATGGCTACAGCCCAGACGCCCAGGC
GTGCCTTGTTTTTGGATTCAGTTCTCCTGTGTGCATGGCTTTCCAAAAGGACTGTGAGTTCTTTGGAATTGTGAACATTCTTTTGAAATATGGAGCCCAG
ATAAATGAACTTCATTTGGCATACTGCCTGAAGTACGAGAAGTTTTCGATATTTCGCTACTTTTTGAGGAAAGGTTGCTCATTGGGACCATGGAACCATA
TATATGAATTTGTAAATCATGCAATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCCACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTG
CAATTCTTGKATTGACTCAGTCAGCATTGACACCCTTATCTTCACTTTGGAGTTTACTAATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCT
GCTCGTGCCTCAAACGCTTGGATTCTACAGCAACATATTGCCACTGTTCCATCCCTGACCCATCTTTGTCGTTTGGAAATTCGGTCCAGTCTAAAATCAG
AACGTCTACGGTCTGACAGTTATATTAGTCAGCTGCCACTTCCCAGAAGCCTACATAATTATTTGCTCTATGAAGACGTTCTGAGGATGTATGAAGTTCC
AGAACTGGCAGCTATTCAAGATGGATAAATCAGTGAAACTACTTAACACAGCTAATTTTTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTAC
AAGTTTTTATGATTTTATAGTCAAAAGATGATTATTGATTGTSAGATAGGTTAGGTTTTGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACT
AGCCTTCCCAGTAAAAAAAAAAAAAAAAAAAAAAAAAATTGTAAACATCACTTATATTACTTTATTGCAGCTTCATCACCAGTACATTATATGTTGTAAT
ATTTATTTACCTGATCATTTTGATCATTTTCTGCTTTATTTTGCTAATAAACTGTGATGTTACTTCTAGTGCTAAACATGGCATATTTCCACCTATGATT
CGTGTTTACCTGGTATTAGGAGCTCAGAATGGAATGCATAAAGCTTCACTGGAAGTGTATACAACTGTGGTGTAGAATCTGTTATTATTATCATTATTAT
TTTATTTAGACTTGACTATCTCTTATGTTTATTAAAGAACATGTTTTCCTATTC

Protein Sequence    (SEQ ID NO:955):
MKTFEGFCALHLAASQGHWKIVQILLEAGADPNATTLEETTPLFLAVENGQIDVLRLLLQHGANVNGSHSMCGWNSLHQASFQENAEIIKLLLRKGANKE
CQDDFGITPLFVAAQYGKLESLSILISSGANVNCQALDKATPLFIAAQEGHTKCVELLLSSGADPDLYCNEDSWQLPIHAAAQMGHTKILDLLIPLTNRA
CDTGLNKVSPVYSAVFGGHEDCLEILLRNGYSPDAQACLVFGFSSPVCMAFQKDCEFFGIVNILLKYGAQINELHLAYCLKYEKFSIFRYFLRKGCSLGP
WNHIYEFVNHAIKAQAKYKEWLPHLLVAGFDPLILLCNSWIDSVSIDTLIFTLEFTNWKTLAPAVERMLSARASNAWILQQHIATVPSLTHLCRLEIRSS
LKSERLRSDSYISQLPLPRSLHNYLLYEDVLRMYEVPELAAIQDG


SNP Information

Context             (SEQ ID NO:4965):
TTGTAAATCATGCAATTAAAGCACAAGCAAAATATAAGGAGTGGTTGCCACATCTTCTGGTTGCTGGATTTGACCCACTGATTCTACTGTGCAATTCTTG
K
ATTGACTCAGTCAGCATTGACACCCTTATCTTCACTTTGGAGTTTACTAATTGGAAGACACTTGCACCAGCTGTTGAAAGGATGCTCTCTGCTCGTGCCT
Celera SNP ID:            hCV27470619
SNP Position Transcript:  1210
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:955, 340, (W,TGG)   (C,TGT)      



Context             (SEQ ID NO:4966):
GATTCTTTTAGAAGCTGGGGCAGATCCTAATGCAACTACTTTAGAAGAAACGACACCATTGTTTTTAGCTGTTGAAAATGGACAGATAGATGTGTTAAGG
S
TGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGAAAATGCTGAGATCATAAA
Celera SNP ID:            hCV25649035
SNP Position Transcript:  359
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|G,1)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:955, 57, (L,CTG)   (V,GTG)   



Context             (SEQ ID NO:4967):
TTAACACAGCTAATTTTTTTCTCTGAAAAATCATCGAGACAAAAGAGCCACAGAGTACAAGTTTTTATGATTTTATAGTCAAAAGATGATTATTGATTGT
S
AGATAGGTTAGGTTTTGGGGGGCCAGTAGTTCAGTGAGAATGTTTATGTTTACAACTAGCCTTCCCAGTAAAAAAAAAAAAAAAAAAAAAAAAAATTGTA
Celera SNP ID:            hCV7546205
SNP Position Transcript:  1643
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   POOLE|_CEPH(G,26|C,162)   total(G,26|C,162)JBIC-allele(C,554|G,921)   total(G,921|C,554)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:955, None   



Context             (SEQ ID NO:4968):
AGATAGATGTGTTAAGGCTGTTGCTTCAACACGGAGCAAATGTTAATGGATCCCATTCTATGTGTGGATGGAACTCCTTGCACCAGGCTTCTTTTCAGGA
W
AATGCTGAGATCATAAAATTGCTTCTTAGAAAAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCA
Celera SNP ID:            hCV7546198
SNP Position Transcript:  442
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|T,1)   total(A,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:955, 84, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:4969):
GGTCGCGGAGCCGTCCGCCTACGGGGGCCGGGACGTCGCCTGCGCGTCTCTCGTTTTCGGACGGCTGCAGCATCGCGGTGGG
R
ATCGAAAGCGGGGGCTTCTGGGACGCAGCTCTGGAGACGCGGCCTCGGACCAGCCATTTCGGTGTAGAAGTGGCAGCACGGCAGATTCATCTGAAAACTA
Celera SNP ID:            hCV16251382
SNP Position Transcript:  83
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:955, None   



Context             (SEQ ID NO:4970):
AAGGAGCAAACAAGGAATGCCAGGATGACTTTGGAATCACACCTTTATTTGTGGCTGCTCAGTATGGCAAGCTAGAAAGCTTGAGCATACTTATTTCATC
R
GGTGCAAATGTCAATTGTCAAGCCTTGGACAAAGCTACACCCTTGTTCATTGCTGCTCAAGAGGGACACACAAAATGTGTGGAGCTTTTGCTCTCCAGTG
Celera SNP ID:            hCV22274050
SNP Position Transcript:  574
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,8|G,30)   total(A,18|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:955, 128, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:4971):
TCTTTACTGTAATGAGGACAGTTGGCAGTTACCTATTCATGCAGCTGCACAAATGGGCCATACAAAAATCTTGGACTTGTTAATACCACTTACTAACCGG
R
CCTGTGACACTGGGCTAAACAAAGTAAGCCCTGTTTACTCAGCAGTGTTTGGGGGACATGAAGATTGCCTAGAAATATTACTCCGGAATGGCTACAGCCC
Celera SNP ID:            hCV25649040
SNP Position Transcript:  788
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,30)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:955, 200, (T,ACC)   (A,GCC)   



Gene Number:                 94
Celera Gene:                 hCG1993582 - 68000102039012
Celera Transcript:           hCT2272740 - 68000102039013
Public Transcript Accession: NM_004287
Celera Protein:              hCP1855487 - 197000069368621
Public Protein Accession:    NP_004278
Gene Symbol:                 GOSR2
Protein Name:                golgi SNAP receptor complex member 2;GS27;MEMBRIN
Celera Genomic Axis:         GA_x5YUV32VTQY(546567..563300)
Chromosome:                  Chr17
OMIM number:                 604027
OMIM Information:            GOLGI SNAP RECEPTOR COMPLEX MEMBER 2;GOSR2


Transcript Sequence (SEQ ID NO:259):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGASCCGGAGCCGTGGCCTGCSGGGCCGGCGACATGGATMCCCTGTTCCAGCAAACGCACA
AGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGAAATCCAAGCAAGCATAGACCA
GATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCARACTTCGGGTTGACCAGTTAAAGTATGAT
GTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAGCGAGAAGAGCTTCTGTCTCGAACCTTCA
CCACTAACGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGA
TGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAASATGCTGGGCTTGTCCAAC
ACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCATGTTCCTCGTGGTGCAGT
ACCTGACATGAGCCAGCCACGCTCAGTGGCTGAACAGCATTCCCACAGCCTGCAAGTGTGTGTGTGTGTGAAAGAGAGAGGGGGGCCCAGAGGCCGCCTT
TTGAAATGTTTGCCTGTCTGAACTGTGAAGACACTTGGGAGTGATTGTGGTCTAATTTCCAACCTGCTCTGTTTTCTGTGACATCTTGGAGGGGGAGCTA
GTGCCACCACCATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGG
CTTTGTTCACAYAGCTGATGCGTGCCCTGGGAAGGTGTYCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTT
TCTGGSTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGC
TCCTGGCCACCCTCCCCTGTGCCTCAGTGACATGTAGATGACTGACTGCCAATACTTGTCACCATTCCCTGGAAGCAGCTACCTAGGGGAAACAAGATGT
AGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTT
GACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTT
GCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAATTACAGTCTCAGCTCTAGTTTTAGTATCTCTAATTCTTTGGTTCCCTTCTCTTCCC
TGAAATATATTAGCACCTGCCAGCCAGGCCCTCATTTTGCCCAGCCAGTGTGGGCAGATCCCACCGTGGAGACATCTGTAGTGTGTATGTCCTTGTAACA
CTCTGTTTTCAGGGACTACAACCTTTTTCCTTCTGTGACCAGCCCCGGATTCAGGCTGTACTAATACCAGGTATATTRTGGAATTTAGTATAAAGGCCAA
TCTGT

Protein Sequence    (SEQ ID NO:956):
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQ
REELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLT
CVVMFLVVQYLT


SNP Information

Context             (SEQ ID NO:4972):
ATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTCACA
Y
AGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGA
Celera SNP ID:            hCV2592672
SNP Position Transcript:  1012
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,9)   caucasian(C,18)   total(C,43|T,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:956, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,4)      total(C,2|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:956, None   



Context             (SEQ ID NO:4973):
TTCACATAGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGG
S
TCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGG
Celera SNP ID:            hCV29195268
SNP Position Transcript:  1106
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:956, None   



Context             (SEQ ID NO:4974):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGC
S
GGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGT
Celera SNP ID:            hCV2275270
SNP Position Transcript:  61
SNP Source:               Applera
Population(Allele,Count): african american(C,28|G,10)   caucasian(C,38)   total(C,66|G,10)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:956, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:956, None   



Context             (SEQ ID NO:4975):
GTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTCACATAGCTGATGCGTGCCCTGGGAAGGTGT
Y
CACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAA
Celera SNP ID:            hCV27848305
SNP Position Transcript:  1039
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:956, None



Context             (SEQ ID NO:4976):
GAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCA
R
ACTTCGGGTTGACCAGTTAAAGTATGATGTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAG
Celera SNP ID:            hCV2275273
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,19)   caucasian(A,7|G,29)   total(A,12|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:956, 67, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): SG_12_A(G,3|A,14)   SG_12_G(G,6|A,14)   SG_12_AA(G,7|A,8)   total(G,16|A,36)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:956, 67, (R,AGA)   (K,AAA)      67, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:4977):
TGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAA
S
ATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCA
Celera SNP ID:            hCV25936855
SNP Position Transcript:  582
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|G,1)   total(C,67|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:956, 170, (N,AAC)   (K,AAG)   



Context             (SEQ ID NO:4978):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGA
S
CCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGAC
Celera SNP ID:            hCV2275269
SNP Position Transcript:  43
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,28)   caucasian(C,8|G,16)   total(C,16|G,44)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:956, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,696|G,801)   total(G,801|C,696) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:956, None   



Context             (SEQ ID NO:4979):
GTAGTGTGTATGTCCTTGTAACACTCTGTTTTCAGGGACTACAACCTTTTTCCTTCTGTGACCAGCCCCGGATTCAGGCTGTACTAATACCAGGTATATT
R
TGGAATTTAGTATAAAGGCCAATCTGT
Celera SNP ID:            hCV11416177
SNP Position Transcript:  1778
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:956, None   



Context             (SEQ ID NO:4980):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGAT
M
CCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGA
Celera SNP ID:            hCV25959497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,37)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:956, 3, (T,ACC)   (P,CCC)   



Gene Number:                 94
Celera Gene:                 hCG1993582 - 68000102039012
Celera Transcript:           hCT2272739 - 68000102039046
Public Transcript Accession: NM_004287
Celera Protein:              hCP1855491 - 197000069368625
Public Protein Accession:    NP_004278
Gene Symbol:                 GOSR2
Protein Name:                golgi SNAP receptor complex member 2;GS27;MEMBRIN
Celera Genomic Axis:         GA_x5YUV32VTQY(544428..563300)
Chromosome:                  Chr17
OMIM number:                 604027
OMIM Information:            GOLGI SNAP RECEPTOR COMPLEX MEMBER 2;GOSR2


Transcript Sequence (SEQ ID NO:260):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGASCCGGAGCCGTGGCCTGCSGGGCCGGCGACATGGATMCCCTGTTCCAGCAAACGCACA
AGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGAAATCCAAGCAAGCATAGACCA
GATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCARACTTCGGGTTGACCAGTTAAAGTATGAT
GTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAGCGAGAAGAGCTTCTGTCTCGAACCTTCA
CCACTAACGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGA
TGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAASATGCTGGGCTTGTCCAAC
ACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGCACCCAAGGATCCTGCCAGACAGCACACTTTGGAGGAAGGTCTG
CAGGGAGCAGCTGAGCCATTTGTTCTTGAACTCTGGGAGGCAGAAGTCCCCGCACCCATCATGCGTGGACTGATAGGACATCTTTTCGTGGTGTGCACCA
TGTGACTCTCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCA
AGAAACTCYRGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTAYTGTGRTTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTT
TATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAAGACCAAGTAAGTTAGAGGAGTCTTGATTTTTTAGACTTCACTGCGG
AGTTCTGTACACCCTTTGCCCTGATGAATTTGAATGGGTTTGATTTGCAAATTTGGATTTACACCCATTGTTTTGGAAGCACATCAGCTGAATAAAGTTG
AGGTTTATTTTATTTAGAAAATCACATTTTGTAAAAGAATTCGATATTCATTTTTATAACTAATGGCCCCCTTTTTTTATGTTTCTAGGCCAGAGATTCT
CAAACACTGCTCCATGGCCAGGGGCTGGGCTGGCTGCTTCAGAAGCAGTGGGGAAGCTTTTTAAAATTACATATTCCTGGGGCCTACCCCAGATCTGAAT
TAGAACCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTATTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTG
GCTCAYTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAKCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGKACCTGGCCTCTAAGG
TGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAAAGCTTCTGTCTCAAAGATGATCACATTGGTGTAAAGAGCAAAACTTGTTAAGTCC
A

Protein Sequence    (SEQ ID NO:957):
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQ
REELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGTQGSC
QTAHFGGRSAGSS


SNP Information

Context             (SEQ ID NO:4981):
CTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCC
R
GTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGG
Celera SNP ID:            hCV25937972
SNP Position Transcript:  910
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,32)   total(A,2|G,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None



Context             (SEQ ID NO:4982):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGC
S
GGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGT
Celera SNP ID:            hCV2275270
SNP Position Transcript:  61
SNP Source:               Applera
Population(Allele,Count): african american(C,28|G,10)   caucasian(C,38)   total(C,66|G,10)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:957, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:957, None   



Context             (SEQ ID NO:4983):
CACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTA
Y
TGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAA
Celera SNP ID:            hCV7451217
SNP Position Transcript:  954
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,20)   caucasian(C,16|T,22)   total(C,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None   



Context             (SEQ ID NO:4984):
TCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTC
Y
GGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATG
Celera SNP ID:            hCV25941656
SNP Position Transcript:  909
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,32|T,6)   total(C,66|T,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None



Context             (SEQ ID NO:4985):
TTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCA
K
CCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGGACCTGGCCTCTAAGGTGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAAAGCT
Celera SNP ID:            hCV2592676
SNP Position Transcript:  1549
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None   



Context             (SEQ ID NO:4986):
GAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCA
R
ACTTCGGGTTGACCAGTTAAAGTATGATGTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAG
Celera SNP ID:            hCV2275273
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,19)   caucasian(A,7|G,29)   total(A,12|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:957, 67, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): SG_12_A(G,3|A,14)   SG_12_G(G,6|A,14)   SG_12_AA(G,7|A,8)   total(G,16|A,36)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:957, 67, (R,AGA)   (K,AAA)      67, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:4987):
CCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTATTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCA
Y
TGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAGCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGGACCTGGCCTCTAAGGTGATTC
Celera SNP ID:            hCV27467513
SNP Position Transcript:  1506
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None   



Context             (SEQ ID NO:4988):
TGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAA
S
ATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGCACCCAAGGATCCTGCCAGACAGCAC
Celera SNP ID:            hCV25936855
SNP Position Transcript:  582
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|G,1)   total(C,67|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:957, 170, (N,AAC)   (K,AAG)   



Context             (SEQ ID NO:4989):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGA
S
CCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGAC
Celera SNP ID:            hCV2275269
SNP Position Transcript:  43
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,28)   caucasian(C,8|G,16)   total(C,16|G,44)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:957, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,696|G,801)   total(G,801|C,696) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:957, None   



Context             (SEQ ID NO:4990):
TCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTG
R
TTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAAGACCA
Celera SNP ID:            hCV25938011
SNP Position Transcript:  959
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None



Context             (SEQ ID NO:4991):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGAT
M
CCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGA
Celera SNP ID:            hCV25959497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,37)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:957, 3, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:4992):
CAGTGGCGCAATCTTGGCTCACTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAGCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTG
K
ACCTGGCCTCTAAGGTGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAAAGCTTCTGTCTCAAAGATGATCACATTGGTGTAAAGAGCA
Celera SNP ID:            hCV7451210
SNP Position Transcript:  1585
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:957, None   



Gene Number:                 94
Celera Gene:                 hCG1993582 - 68000102039012
Celera Transcript:           hCT2272738 - 68000102039023
Public Transcript Accession: NM_004287
Celera Protein:              hCP1855488 - 197000069368622
Public Protein Accession:    NP_004278
Gene Symbol:                 GOSR2
Protein Name:                golgi SNAP receptor complex member 2;GS27;MEMBRIN
Celera Genomic Axis:         GA_x5YUV32VTQY(544721..563300)
Chromosome:                  Chr17
OMIM number:                 604027
OMIM Information:            GOLGI SNAP RECEPTOR COMPLEX MEMBER 2;GOSR2


Transcript Sequence (SEQ ID NO:261):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGASCCGGAGCCGTGGCCTGCSGGGCCGGCGACATGGATMCCCTGTTCCAGCAAACGCACA
AGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGAAATCCAAGCAAGCATAGACCA
GATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCARACTTCGGGTTGACCAGTTAAAGTATGAT
GTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAGCGAGAAGAGCTTCTGTCTCGAACCTTCA
CCACTAACGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGA
TGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAASATGCTGGGCTTGTCCAAC
ACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGCACCCAAGGATCCTGCCAGACAGCACACTTTGGAGGAAGGTCTG
CAGGGAGCAGCTGAGCCATTTGTTCTTGAACTCTGGGAGGCAGAAGTCCCCGCACCCATCATGCGTGGACTGATAGGACATCTTTTCGTGGTGTGCACCA
GTGCTTTCCACACTTGACAGTGGTTGGCTTTGATGAACCCTCATGCTGCACCTTCAGAGCCAGTCCTCTAGTTTGGAATAAAAATTGCAGAGGTGGTTTT
TGGGTCTTTACCACCTGCGGCTGGTGGACAGCAGCCAGTGTGTCTGGACACCCAGGGGCATTGAGACTGCATGTTGTCACATGACCACTTCTCTTCACAC
ATCTGCTTTCAGTGCCTGGTGAAAAATAGACCTTGGCCTAACAGTGTGACTCTCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCAC
CCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCYRGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTAYTG
TGRTTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAAGA
CCAAGTAAGTTAGAGGAGTCTTGATTTTTTAGACTTCACTGCGGAGTTCTGTACACCCTTTGCCCTGATGAATTTGAATGGGTTTGATTTGCAAATTTGG
ATTTACACCCATTGTTTTGGAAGCACATCAGCTGAATAAAGTTGAGGTTTATTTTATTTAGAAAATCACATTTTGTAAAAGAATTCGATATTCATTTTTA
TAACTAATGGCCCCCTTTTTTTATGTTTCTAGGCCAGAGATTCTCAAACACTGCTCCATGGCCAGGGGCTGGGCTGGCTGCTTCAGAAGCAGTGGGGAAG
CTTTTTAAAATTACATATTCCTGGGGCCTACCCCAGATCTGAATTAGAACCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTATTTTTGAGACA
GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCAYTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAKCCTCCTG
A

Protein Sequence    (SEQ ID NO:958):
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQ
REELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGTQGSC
QTAHFGGRSAGSS


SNP Information

Context             (SEQ ID NO:4993):
CTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCC
R
GTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGG
Celera SNP ID:            hCV25937972
SNP Position Transcript:  1154
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,32)   total(A,2|G,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None



Context             (SEQ ID NO:4994):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGC
S
GGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGT
Celera SNP ID:            hCV2275270
SNP Position Transcript:  61
SNP Source:               Applera
Population(Allele,Count): african american(C,28|G,10)   caucasian(C,38)   total(C,66|G,10)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:958, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:958, None   



Context             (SEQ ID NO:4995):
CACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTA
Y
TGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAA
Celera SNP ID:            hCV7451217
SNP Position Transcript:  1198
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,20)   caucasian(C,16|T,22)   total(C,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None   



Context             (SEQ ID NO:4996):
TCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTC
Y
GGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATG
Celera SNP ID:            hCV25941656
SNP Position Transcript:  1153
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,32|T,6)   total(C,66|T,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None



Context             (SEQ ID NO:4997):
TTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCA
K
CCTCCTGA
Celera SNP ID:            hCV2592676
SNP Position Transcript:  1793
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None   



Context             (SEQ ID NO:4998):
GAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCA
R
ACTTCGGGTTGACCAGTTAAAGTATGATGTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAG
Celera SNP ID:            hCV2275273
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,19)   caucasian(A,7|G,29)   total(A,12|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:958, 67, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): SG_12_A(G,3|A,14)   SG_12_G(G,6|A,14)   SG_12_AA(G,7|A,8)   total(G,16|A,36)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:958, 67, (R,AGA)   (K,AAA)      67, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:4999):
CCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTATTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCA
Y
TGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAGCCTCCTGA
Celera SNP ID:            hCV27467513
SNP Position Transcript:  1750
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None   



Context             (SEQ ID NO:5000):
TGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAA
S
ATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGCACCCAAGGATCCTGCCAGACAGCAC
Celera SNP ID:            hCV25936855
SNP Position Transcript:  582
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|G,1)   total(C,67|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:958, 170, (N,AAC)   (K,AAG)   



Context             (SEQ ID NO:5001):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGA
S
CCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGAC
Celera SNP ID:            hCV2275269
SNP Position Transcript:  43
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,28)   caucasian(C,8|G,16)   total(C,16|G,44)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:958, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,696|G,801)   total(G,801|C,696) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:958, None   



Context             (SEQ ID NO:5002):
TCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTG
R
TTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAAGACCA
Celera SNP ID:            hCV25938011
SNP Position Transcript:  1203
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:958, None



Context             (SEQ ID NO:5003):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGAT
M
CCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGA
Celera SNP ID:            hCV25959497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,37)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:958, 3, (T,ACC)   (P,CCC)   



Gene Number:                 94
Celera Gene:                 hCG1993582 - 68000102039012
Celera Transcript:           hCT2272741 - 68000102039034
Public Transcript Accession: NM_004287
Celera Protein:              hCP1855489 - 197000069368623
Public Protein Accession:    NP_004278
Gene Symbol:                 GOSR2
Protein Name:                golgi SNAP receptor complex member 2;GS27;MEMBRIN
Celera Genomic Axis:         GA_x5YUV32VTQY(544428..563300)
Chromosome:                  Chr17
OMIM number:                 604027
OMIM Information:            GOLGI SNAP RECEPTOR COMPLEX MEMBER 2;GOSR2


Transcript Sequence (SEQ ID NO:262):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGASCCGGAGCCGTGGCCTGCSGGGCCGGCGACATGGATMCCCTGTTCCAGCAAACGCACA
AGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGAAATCCAAGCAAGCATAGACCA
GATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCARACTTCGGGTTGACCAGTTAAAGTATGAT
GTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAGCGAGAAGAGCTTCTGTCTCGAACCTTCA
CCACTAACGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGA
TGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAASATGCTGGGCTTGTCCAAC
ACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCATGTTCCTCGTGGTGCAGT
ACCTGACATGAGCCAGCCACGCTCAGTGGCTGAACAGCATTCCCACAGCCTGCAAGTGTGTGTGTGTGTGAAAGAGAGAGGGGGGCCCAGAGGCCGCCTT
TTGAAATGTTTGCCTGTCTGAACTGTGAAGACACTTGGGAGTGATTGTGGTCTAATTTCCAACCTGCTCTGTTTTCTGTGACATCTTGGAGGGGGAGCTA
GTGCCACCACCATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGG
CTTTGTTCACAYAGCTGATGCGTGCCCTGGGAAGGTGTYCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTT
TCTGGSTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGC
TCCTGGCCACCCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCYRGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGG
TGTGCCTAYTGTGRTTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCC
AAACTCCAAGACCAAGTAAGTTAGAGGAGTCTTGATTTTTTAGACTTCACTGCGGAGTTCTGTACACCCTTTGCCCTGATGAATTTGAATGGGTTTGATT
TGCAAATTTGGATTTACACCCATTGTTTTGGAAGCACATCAGCTGAATAAAGTTGAGGTTTATTTTATTTAGAAAATCACATTTTGTAAAAGAATTCGAT
ATTCATTTTTATAACTAATGGCCCCCTTTTTTTATGTTTCTAGGCCAGAGATTCTCAAACACTGCTCCATGGCCAGGGGCTGGGCTGGCTGCTTCAGAAG
CAGTGGGGAAGCTTTTTAAAATTACATATTCCTGGGGCCTACCCCAGATCTGAATTAGAACCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTA
TTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCAYTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACC
TCAKCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGKACCTGGCCTCTAAGGTGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAA
AGCTTCTGTCTCAAAGATGATCACATTGGTGTAAAGAGCAAAACTTGTTAAGTCCA

Protein Sequence    (SEQ ID NO:959):
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQ
REELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLT
CVVMFLVVQYLT


SNP Information

Context             (SEQ ID NO:5004):
TTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGGCCACCCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCC
R
GTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGG
Celera SNP ID:            hCV25937972
SNP Position Transcript:  1265
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,32)   total(A,2|G,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None



Context             (SEQ ID NO:5005):
ATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTCACA
Y
AGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGA
Celera SNP ID:            hCV2592672
SNP Position Transcript:  1012
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,9)   caucasian(C,18)   total(C,43|T,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,4)      total(C,2|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5006):
TTCACATAGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGG
S
TCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGG
Celera SNP ID:            hCV29195268
SNP Position Transcript:  1106
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5007):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGC
S
GGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGT
Celera SNP ID:            hCV2275270
SNP Position Transcript:  61
SNP Source:               Applera
Population(Allele,Count): african american(C,28|G,10)   caucasian(C,38)   total(C,66|G,10)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:959, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5008):
ACCCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTA
Y
TGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAA
Celera SNP ID:            hCV7451217
SNP Position Transcript:  1309
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,20)   caucasian(C,16|T,22)   total(C,34|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5009):
ATTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGGCCACCCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTC
Y
GGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATG
Celera SNP ID:            hCV25941656
SNP Position Transcript:  1264
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,32|T,6)   total(C,66|T,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None



Context             (SEQ ID NO:5010):
GTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTCACATAGCTGATGCGTGCCCTGGGAAGGTGT
Y
CACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAA
Celera SNP ID:            hCV27848305
SNP Position Transcript:  1039
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None



Context             (SEQ ID NO:5011):
TTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCA
K
CCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGGACCTGGCCTCTAAGGTGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAAAGCT
Celera SNP ID:            hCV2592676
SNP Position Transcript:  1904
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5012):
GAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCA
R
ACTTCGGGTTGACCAGTTAAAGTATGATGTCCAGCACCTGCAGACTGCGCTCAGAAACTTCCAGCATCGGCGCCATGCAAGGGAGCAGCAGGAGAGACAG
Celera SNP ID:            hCV2275273
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,19)   caucasian(A,7|G,29)   total(A,12|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:959, 67, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): SG_12_A(G,3|A,14)   SG_12_G(G,6|A,14)   SG_12_AA(G,7|A,8)   total(G,16|A,36)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:959, 67, (R,AGA)   (K,AAA)      67, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:5013):
TGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGGGACTCAGAAGAAGATCCTTGACATTGCCAA
S
ATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCA
Celera SNP ID:            hCV25936855
SNP Position Transcript:  582
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,35|G,1)   total(C,67|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:959, 170, (N,AAC)   (K,AAG)   



Context             (SEQ ID NO:5014):
CCTTTTTTAAATCTCTAAGGTGATTTTATTTTATTTTTTATTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCA
Y
TGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAGCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTGGACCTGGCCTCTAAGGTGATTC
Celera SNP ID:            hCV27467513
SNP Position Transcript:  1861
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5015):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGA
S
CCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGAC
Celera SNP ID:            hCV2275269
SNP Position Transcript:  43
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,28)   caucasian(C,8|G,16)   total(C,16|G,44)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:959, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,696|G,801)   total(G,801|C,696) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5016):
TCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGCCTATTGTG
R
TTTAAAACAGGTGGGTTATCAAGAGGAACTTGAGATCTCTTTATTACATGGACATTTACTTCAGGGGGACCACTGTAAGAAAAGCCAAACTCCAAGACCA
Celera SNP ID:            hCV25938011
SNP Position Transcript:  1314
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None



Context             (SEQ ID NO:5017):
CAGTGGCGCAATCTTGGCTCACTGCATCCTCTGCCTCCTGGGTTCAGGTGATCCTCATACCTCAGCCTCCTGATTCTAGGGTTACAGGTGTTAGCCACTG
K
ACCTGGCCTCTAAGGTGATTCTGATGTGTGTATTTTGGAACCACTGTCTCCTAGACAGAAAGCTTCTGTCTCAAAGATGATCACATTGGTGTAAAGAGCA
Celera SNP ID:            hCV7451210
SNP Position Transcript:  1940
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:959, None   



Context             (SEQ ID NO:5018):
ACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCCGGGCCGGCGACATGGAT
M
CCCTGTTCCAGCAAACGCACAAGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACATAGTAGAAAACGA
Celera SNP ID:            hCV25959497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,37)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:959, 3, (T,ACC)   (P,CCC)   



Gene Number:                 95
Celera Gene:                 hCG1995465 - 61000125219669
Celera Transcript:           hCT2275821 - 61000125219670
Public Transcript Accession: NM_015658
Celera Protein:              hCP1882732 - 197000069425996
Public Protein Accession:    NP_056473
Gene Symbol:                 DKFZP564C186
Protein Name:                DKFZP564C186 protein
Celera Genomic Axis:         GA_x5YUV32VTH2(1697109..1712527)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:263):
GGCGGCGGAAGTGCGCAGCCGCGCGGCATTCTGGGGCCGGAAGTGGGGTGCACGCTTCGGGTTGGTGTCATGGCAGCTGCGGGGAGCCGCAAGAGGCGCC
TGGCGGAGCTGACGGTGGACGAGTTCCTAGCTTCGGGCTTTGACTCCGAGTCCGAATCCGAGTCCGAAAATTCTCCACAAGCGGAGACACGGGAAGCACG
CGAGGCTGCCCGGAGTCCGGATAAGCCGGGCGGGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAG
GACAGAGACCCCGAGTTCTACAAGTTCCTGCARGAGAATGACCAGAGCCTRCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCC
ACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGGAGGAAGGAGAAGATGGGGACAGAGTCCCCAGAGGGCTGAAGGGGAAGAA
GAATTCTGTTCCTGTGACCGTCGCCATGGTTGAGAGATGGAAGCAGGCAGCAAAGCAACGCCTCACTCCAAAGCTGTTCCATGAAGTGGTACAGGCGTTC
CGAGCAGCTGTGGCCACCACCCGAGGGGACCAGGAAAGTGCTGAGGCCAACAAATTCCAGGTCACGGACAGTGCTGCATTCAATGCTCTGGTTACCTTCT
GCATCAGAGACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGG
GAAGCTTCRTGTGGACATCAAGGCTTWCCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGYGGCCGTGCTGCGGCACATC
AGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGRTCGTATGGAGCACTGGGGARGAGTCTCTGCGGG
TGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGTATGTGAGGAACTG
CAAGTTCACCTCGCCTGGTGCCCTCCCCTTCATCAGTTTCATGCAGTGGACCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCC
TTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCACYCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACT
GCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGYCCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAA
GCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGCACTGCATCCGTGCCCTGACGCTGCTCTCGGGGAGCTCGGGGGCCTTCATCCCGGTGCTGCCT
TTCATCCTGGAGATGTTCCAGCAGGTCGACTTCAACAGGAAGCCAGGGCGCATGAGCTCCAAGCCCATCAACTTCTCCGTGATCCTGAAGCTGTCCAATG
TCAACCTGCAGGAGAAGGCGTACCGGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCC
GGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGTYGTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTT
CAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCGGGAAG
AGGGGACACCCYTGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAA
CTTCCCTGAGATCAAACGAAGGAAGATGGCTGACAGGAAGGATGAGGACAGGAAGCAATTTAAAGACCTCTTTGACCTGAACAGCTCTGAAGAGGACGAC
ACCGAGGGATTCTCGGAGAGAGGGATACTGAGGCCCCTGAGCACTCGGCATGGGGTGGAAGACGATGAAGAGGACGAGGAGGAGGGCGAGGAGGACAGCA
GCAACTCGGAGGATGGAGACCCAGACGCAGAGGCGGGGCTGGCCCCTGGGGAGCTGCAGCAGCTGGCCCAGGGGCCGGAGGACGAGCTGGAGGATCTGCA
GCTCTCAGAGGACGACTGAGGCAGCCCATCTGGGGGGCCTGTAGGGGCTGCCGGGCTGGTGGCCAGTGTTTCCACCTCCCTGGCAGTCAGGCCTAGAGGC
TGGCGTCTGTGCAGTTGGGGGAGGCAGTAGACACGGGACAGGCTTTATTATTTATTTTTCAGCATGAAAGACCAAACGTATCGAGAGCTGGGCTGGGCTG
GGCTGGTGTGGCTGCTGAAGCCCCACAGCTGTGGGCTGCTGAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTC
CAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTYTGCCCTCCGTCTGCAGACCTCGTCCATYTGCACCAGGCTCTGCCTTCACTCCCCCAAGT
CTTTGRAAATTTGTTCYTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAARAAATAAAGCGGTGGGAGGCAGGGCC
ATTGTGTTGAGTGRTGRCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTA
GAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGTYGTGGGGGACAAGGGCTGCTC
TCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGAAAACTCGGCCCAGGCGCCTG
GCCACCTGCAGAGAGATGGCC

Protein Sequence    (SEQ ID NO:960):
MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDS
DSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTD
SAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVV
VWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETY
QSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPI
NFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQA
VEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDE
EDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD


SNP Information

Context             (SEQ ID NO:5019):
GAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCT
Y
TGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTT
Celera SNP ID:            hCV26072051
SNP Position Transcript:  2641
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None   



Context             (SEQ ID NO:5020):
CAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAA
R
AAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGG
Celera SNP ID:            hCV11447012
SNP Position Transcript:  2775
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,36)   total(A,2|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None



Context             (SEQ ID NO:5021):
TTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTG
R
CTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTC
Celera SNP ID:            hCV25612508
SNP Position Transcript:  2817
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,36)   total(A,3|G,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None



Context             (SEQ ID NO:5022):
TTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTG
R
TGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCA
Celera SNP ID:            hCV25612509
SNP Position Transcript:  2814
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None



Context             (SEQ ID NO:5023):
GGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCAGGAGAATGACCAGAGCCT
R
CTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGG
Celera SNP ID:            hCV25612560
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 94, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5024):
GGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTG
R
AAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTG
Celera SNP ID:            hCV11447016
SNP Position Transcript:  2706
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,4|G,32)   total(A,5|G,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None   



Context             (SEQ ID NO:5025):
GGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTC
Y
TTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGG
Celera SNP ID:            hCV25612519
SNP Position Transcript:  2717
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(C,4|T,32)   total(C,6|T,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None



Context             (SEQ ID NO:5026):
GTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGT
Y
GTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTTCAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAG
Celera SNP ID:            hCV25612561
SNP Position Transcript:  1736
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 556, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:5027):
ACGCCATGACCACCCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGG
Y
CCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAAGCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGC
Celera SNP ID:            hCV25612456
SNP Position Transcript:  1338
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 423, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5028):
GGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCA
R
GAGAATGACCAGAGCCTGCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTG
Celera SNP ID:            hCV25612546
SNP Position Transcript:  333
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 88, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:5029):
TGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACTGGGGA
R
GAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGT
Celera SNP ID:            hCV25612483
SNP Position Transcript:  987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,30)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 306, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 306, (E,GAA)   (E,GAG)      306, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:5030):
CCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCAC
Y
CGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGCCCCAGCGAAGCCC
Celera SNP ID:            hCV25612468
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,32|T,4)   total(C,69|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 394, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,67|C,1396)   total(C,1396|T,67) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 394, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5031):
GACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTG
R
TCGTATGGAGCACTGGGGAGGAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCT
Celera SNP ID:            hCV25612495
SNP Position Transcript:  967
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 300, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 300, (I,ATC)   (V,GTC)      300, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:5032):
TCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGG
Y
GGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACT
Celera SNP ID:            hCV25612496
SNP Position Transcript:  881
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,34|T,4)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 271, (A,GCG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 271, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:5033):
CAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTT
W
CCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACC
Celera SNP ID:            hCV25612497
SNP Position Transcript:  827
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,40)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 253, (Y,TAC)   (F,TTC)   



Context             (SEQ ID NO:5034):
GGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGT
Y
GTGGGGGACAAGGGCTGCTCTCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGA
Celera SNP ID:            hCV25760128
SNP Position Transcript:  2980
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,20)   total(C,39|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None



Context             (SEQ ID NO:5035):
GGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCGGGAAGAGGGGACACCC
Y
TGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAACTTCCCTGAGAT
Celera SNP ID:            hCV11610156
SNP Position Transcript:  1912
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,2)   caucasian(C,6|T,10)   total(C,28|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 615, (L,CTG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,15|T,23)   total(C,44|T,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 615, (L,CTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,7|T,9)      total(C,7|T,9) ;JBIC-allele(C,559|T,932)   total(C,559|T,932)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:960, 615, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5036):
GACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTC
R
TGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTG
Celera SNP ID:            hCV27494999
SNP Position Transcript:  809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:960, 247, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:5037):
TGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCAT
Y
TGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAAC
Celera SNP ID:            hCV27470253
SNP Position Transcript:  2669
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:960, None   



Gene Number:                 95
Celera Gene:                 hCG1995465 - 61000125219669
Celera Transcript:           hCT2275823 - 61000125219738
Public Transcript Accession: NM_015658
Celera Protein:              hCP1882736 - 197000069426000
Public Protein Accession:    NP_056473
Gene Symbol:                 DKFZP564C186
Protein Name:                DKFZP564C186 protein
Celera Genomic Axis:         GA_x5YUV32VTH2(1697109..1712211)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:264):
GGCGGCGGAAGTGCGCAGCCGCGCGGCATTCTGGGGCCGGAAGTGGGGTGCACGCTTCGGGTTGGTGTCATGGCAGCTGCGGGGAGCCGCAAGAGGCGCC
TGGCGGAGCTGACGGTGGACGAGTTCCTAGCTTCGGGCTTTGACTCCGAGTCCGAATCCGAGTCCGAAAATTCTCCACAAGCGGAGACACGGGAAGCACG
CGAGGCTGCCCGGAGTCCGGATAAGCCGGGCGGGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAG
GACAGAGACCCCGAGTTCTACAAGTTCCTGCARGAGAATGACCAGAGCCTRCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCC
ACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGGAGGAAGGAGAAGATGGGGACAGAGTCCCCAGAGGGCTGAAGGGGAAGAA
GAATTCTGTTCCTGTGACCGTCGCCATGGTTGAGAGATGGAAGCAGGCAGCAAAGCAACGCCTCACTCCAAAGCTGTTCCATGAAGTGGTACAGGCGTTC
CGAGCAGCTGTGGCCACCACCCGAGGGGACCAGGAAAGTGCTGAGGCCAACAAATTCCAGGTCACGGACAGTGCTGCATTCAATGCTCTGGTTACCTTCT
GCATCAGAGACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGG
GAAGCTTCRTGTGGACATCAAGGCTTWCCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGYGGCCGTGCTGCGGCACATC
AGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGRTCGTATGGAGCACTGGGGARGAGTCTCTGCGGG
TGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGTATGTGAGGAACTG
CAAGTTCACCTCGCCTGGTGCCCTCCCCTTCATCAGTTTCATGCAGTGGACCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCC
TTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCACYCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACT
GCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGYCCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAA
GCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGCACTGCATCCGTGCCCTGACGCTGCTCTCGGGGAGCTCGGGGGCCTTCATCCCGGTGCTGCCT
TTCATCCTGGAGATGTTCCAGCAGGTCGACTTCAACAGGAAGCCAGGGCGCATGAGCTCCAAGCCCATCAACTTCTCCGTGATCCTGAAGCTGTCCAATG
TCAACCTGCAGGAGAAGGCGTACCGGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCC
GGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGTYGTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTT
CAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGAAGCCTGGGAGAAGCTGACCCGGGAAGAGG
GGACACCCYTGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAACTT
CCCTGAGATCAAACGAAGGAAGATGGCTGACAGGAAGGATGAGGACAGGAAGCAATTTAAAGACCTCTTTGACCTGAACAGCTCTGAAGAGGACGACACC
GAGGGATTCTCGGAGAGAGGGATACTGAGGCCCCTGAGCACTCGGCATGGGGTGGAAGACGATGAAGAGGACGAGGAGGAGGGCGAGGAGGACAGCAGCA
ACTCGGAGGATGGAGACCCAGACGCAGAGGCGGGGCTGGCCCCTGGGGAGCTGCAGCAGCTGGCCCAGGGGCCGGAGGACGAGCTGGAGGATCTGCAGCT
CTCAGAGGACGACTGAGGCAGCCCATCTGGGGGGCCTGTAGGGGCTGCCGGGCTGGTGGCCAGTGTTTCCACCTCCCTGGCAGTCAGGCCTAGAGGCTGG
CGTCTGTGCAGTTGGGGGAGGCAGTAGACACGGGACAGGCTTTATTATTTATTTTTCAGCATGAAAGACCAAACGTATCGAGAGCTGGGCTGGGCTGGGC
TGGCTGCTGAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTC
CACCACCTYTGCCCTCCGTCTGCAGACCTCGTCCATYTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGRAAATTTGTTCYTTTCCTTTGAAGTCA
CATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAARAAATAAAGCGGTGGGAGGCAGGGCCATTGT

Protein Sequence    (SEQ ID NO:961):
MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDS
DSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTD
SAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVV
VWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETY
QSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPI
NFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQA
EAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEE
DEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD


SNP Information

Context             (SEQ ID NO:5038):
GTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGT
Y
GTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTTCAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAG
Celera SNP ID:            hCV25612561
SNP Position Transcript:  1736
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 556, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:5039):
GAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCT
Y
TGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTT
Celera SNP ID:            hCV26072051
SNP Position Transcript:  2609
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None   



Context             (SEQ ID NO:5040):
ACGCCATGACCACCCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGG
Y
CCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAAGCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGC
Celera SNP ID:            hCV25612456
SNP Position Transcript:  1338
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 423, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5041):
GGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCA
R
GAGAATGACCAGAGCCTGCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTG
Celera SNP ID:            hCV25612546
SNP Position Transcript:  333
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 88, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:5042):
TGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACTGGGGA
R
GAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGT
Celera SNP ID:            hCV25612483
SNP Position Transcript:  987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,30)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 306, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 306, (E,GAA)   (E,GAG)      306, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:5043):
CCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCAC
Y
CGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGCCCCAGCGAAGCCC
Celera SNP ID:            hCV25612468
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,32|T,4)   total(C,69|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 394, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,67|C,1396)   total(C,1396|T,67) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 394, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5044):
GACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTG
R
TCGTATGGAGCACTGGGGAGGAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCT
Celera SNP ID:            hCV25612495
SNP Position Transcript:  967
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 300, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 300, (I,ATC)   (V,GTC)      300, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:5045):
TCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGG
Y
GGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACT
Celera SNP ID:            hCV25612496
SNP Position Transcript:  881
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,34|T,4)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 271, (A,GCG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 271, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:5046):
CAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTT
W
CCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACC
Celera SNP ID:            hCV25612497
SNP Position Transcript:  827
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,40)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 253, (Y,TAC)   (F,TTC)   



Context             (SEQ ID NO:5047):
CTCGGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGAAGCCTGGGAGAAGCTGACCCGGGAAGAGGGGACACCC
Y
TGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAACTTCCCTGAGAT
Celera SNP ID:            hCV11610156
SNP Position Transcript:  1909
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,2)   caucasian(C,6|T,10)   total(C,28|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 614, (L,CTG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,15|T,23)   total(C,44|T,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 614, (L,CTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,7|T,9)      total(C,7|T,9) ;JBIC-allele(C,559|T,932)   total(C,559|T,932)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 614, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5048):
CAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAA
R
AAATAAAGCGGTGGGAGGCAGGGCCATTGT
Celera SNP ID:            hCV11447012
SNP Position Transcript:  2743
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,36)   total(A,2|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None



Context             (SEQ ID NO:5049):
GACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTC
R
TGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTG
Celera SNP ID:            hCV27494999
SNP Position Transcript:  809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:961, 247, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:5050):
GGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCAGGAGAATGACCAGAGCCT
R
CTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGG
Celera SNP ID:            hCV25612560
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:961, 94, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5051):
GGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTG
R
AAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGT
Celera SNP ID:            hCV11447016
SNP Position Transcript:  2674
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,4|G,32)   total(A,5|G,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None   



Context             (SEQ ID NO:5052):
TGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCAT
Y
TGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAAC
Celera SNP ID:            hCV27470253
SNP Position Transcript:  2637
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None   



Context             (SEQ ID NO:5053):
GGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTC
Y
TTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGT
Celera SNP ID:            hCV25612519
SNP Position Transcript:  2685
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(C,4|T,32)   total(C,6|T,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:961, None



Gene Number:                 95
Celera Gene:                 hCG1995465 - 61000125219669
Celera Transcript:           hCT2275826 - 61000125219715
Public Transcript Accession: NM_015658
Celera Protein:              hCP1882734 - 197000069425998
Public Protein Accession:    NP_056473
Gene Symbol:                 DKFZP564C186
Protein Name:                DKFZP564C186 protein
Celera Genomic Axis:         GA_x5YUV32VTH2(1697109..1712527)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:265):
GGCGGCGGAAGTGCGCAGCCGCGCGGCATTCTGGGGCCGGAAGTGGGGTGCACGCTTCGGGTTGGTGTCATGGCAGCTGCGGGGAGCCGCAAGAGGCGCC
TGGCGGAGCTGACGGTGGACGAGTTCCTAGCTTCGGGCTTTGACTCCGAGTCCGAATCCGAGTCCGAAAATTCTCCACAAGCGGAGACACGGGAAGCACG
CGAGGCTGCCCGGAGTCCGGATAAGCCGGGCGGGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAG
GACAGAGACCCCGAGTTCTACAAGTTCCTGCARGAGAATGACCAGAGCCTRCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCC
ACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGGAGGAAGGAGAAGATGGGGACAGAGTCCCCAGAGGGCTGAAGGGGAAGAA
GAATTCTGTTCCTGTGACCGTCGCCATGGTTGAGAGATGGAAGCAGGCAGCAAAGCAACGCCTCACTCCAAAGCTGTTCCATGAAGTGGTACAGGCGTTC
CGAGCAGCTGTGGCCACCACCCGAGGGGACCAGGAAAGTGCTGAGGCCAACAAATTCCAGGTCACGGACAGTGCTGCATTCAATGCTCTGGTTACCTTCT
GCATCAGAGACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGG
GAAGCTTCRTGTGGACATCAAGGCTTWCCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGYGGCCGTGCTGCGGCACATC
AGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGRTCGTATGGAGCACTGGGGARGAGTCTCTGCGGG
TGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGTATGTGAGGAACTG
CAAGTTCACCTCGCCTGGTGCCCTCCCCTTCATCAGTTTCATGCAGTGGACCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCC
TTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCACYCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACT
GCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGYCCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAA
GCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGCACTGCATCCGTGCCCTGACGCTGCTCTCGGGGAGCTCGGGGGCCTTCATCCCGGTGCTGCCT
TTCATCCTGGAGATGTTCCAGCAGGTCGACTTCAACAGGAAGCCAGGGCGCATGAGCTCCAAGCCCATCAACTTCTCCGTGATCCTGAAGCTGTCCAATG
TCAACCTGCAGGAGAAGGCGTACCGGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCC
GGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGTYGTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTT
CAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCGGGAAG
AGGGGACACCCYTGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAA
CTTCCCTGAGATCAAACGAAGGAAGATGGCTGACAGGAAGGATGAGGACAGGAAGCAATTTAAAGACCTCTTTGACCTGAACAGCTCTGAAGAGGACGAC
ACCGAGGGATTCTCGGAGAGAGGGATACTGAGGCCCCTGAGCACTCGGCATGGGGTGGAAGACGATGAAGAGGACGAGGAGGAGGGCGAGGAGGACAGCA
GCAACTCGGAGGGTGAATGGTCTTGGGATGGAGACCCAGACGCAGAGGCGGGGCTGGCCCCTGGGGAGCTGCAGCAGCTGGCCCAGGGGCCGGAGGACGA
GCTGGAGGATCTGCAGCTCTCAGAGGACGACTGAGGCAGCCCATCTGGGGGGCCTGTAGGGGCTGCCGGGCTGGTGGCCAGTGTTTCCACCTCCCTGGCA
GTCAGGCCTAGAGGCTGGCGTCTGTGCAGTTGGGGGAGGCAGTAGACACGGGACAGGCTTTATTATTTATTTTTCAGCATGAAAGACCAAACGTATCGAG
AGCTGGGCTGGGCTGGGCTGGTGTGGCTGCTGAAGCCCCACAGCTGTGGGCTGCTGAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGA
GACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTYTGCCCTCCGTCTGCAGACCTCGTCCATYTGCACCAGGCTCTGCC
TTCACTCCCCCAAGTCTTTGRAAATTTGTTCYTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAARAAATAAAGCG
GTGGGAGGCAGGGCCATTGTGTTGAGTGRTGRCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGG
GGGCCCCTGGAAGTAGAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGTYGTGGG
GGACAAGGGCTGCTCTCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGAAAACT
CGGCCCAGGCGCCTGGCCACCTGCAGAGAGATGGCC

Protein Sequence    (SEQ ID NO:962):
MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDS
DSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTD
SAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVV
VWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETY
QSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPI
NFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQA
VEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDE
EDEEEGEEDSSNSEGEWSWDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD


SNP Information

Context             (SEQ ID NO:5054):
GAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCT
Y
TGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTT
Celera SNP ID:            hCV26072051
SNP Position Transcript:  2656
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None   



Context             (SEQ ID NO:5055):
CAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAA
R
AAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGG
Celera SNP ID:            hCV11447012
SNP Position Transcript:  2790
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,36)   total(A,2|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None



Context             (SEQ ID NO:5056):
TTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTG
R
CTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTC
Celera SNP ID:            hCV25612508
SNP Position Transcript:  2832
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,36)   total(A,3|G,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None



Context             (SEQ ID NO:5057):
TTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTG
R
TGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCA
Celera SNP ID:            hCV25612509
SNP Position Transcript:  2829
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None



Context             (SEQ ID NO:5058):
GGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCAGGAGAATGACCAGAGCCT
R
CTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGG
Celera SNP ID:            hCV25612560
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 94, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5059):
GGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTG
R
AAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTG
Celera SNP ID:            hCV11447016
SNP Position Transcript:  2721
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,4|G,32)   total(A,5|G,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None   



Context             (SEQ ID NO:5060):
GGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTC
Y
TTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGG
Celera SNP ID:            hCV25612519
SNP Position Transcript:  2732
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(C,4|T,32)   total(C,6|T,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None



Context             (SEQ ID NO:5061):
GTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGT
Y
GTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTTCAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAG
Celera SNP ID:            hCV25612561
SNP Position Transcript:  1736
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 556, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:5062):
ACGCCATGACCACCCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGG
Y
CCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAAGCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGC
Celera SNP ID:            hCV25612456
SNP Position Transcript:  1338
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 423, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5063):
GGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCA
R
GAGAATGACCAGAGCCTGCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTG
Celera SNP ID:            hCV25612546
SNP Position Transcript:  333
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 88, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:5064):
TGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACTGGGGA
R
GAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGT
Celera SNP ID:            hCV25612483
SNP Position Transcript:  987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,30)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 306, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 306, (E,GAA)   (E,GAG)      306, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:5065):
CCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCAC
Y
CGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGCCCCAGCGAAGCCC
Celera SNP ID:            hCV25612468
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,32|T,4)   total(C,69|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 394, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,67|C,1396)   total(C,1396|T,67) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 394, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5066):
GACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTG
R
TCGTATGGAGCACTGGGGAGGAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCT
Celera SNP ID:            hCV25612495
SNP Position Transcript:  967
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 300, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 300, (I,ATC)   (V,GTC)      300, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:5067):
TCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGG
Y
GGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACT
Celera SNP ID:            hCV25612496
SNP Position Transcript:  881
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,34|T,4)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 271, (A,GCG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 271, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:5068):
CAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTT
W
CCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACC
Celera SNP ID:            hCV25612497
SNP Position Transcript:  827
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,40)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 253, (Y,TAC)   (F,TTC)   



Context             (SEQ ID NO:5069):
GGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGT
Y
GTGGGGGACAAGGGCTGCTCTCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGA
Celera SNP ID:            hCV25760128
SNP Position Transcript:  2995
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,20)   total(C,39|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None



Context             (SEQ ID NO:5070):
GGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCGGGAAGAGGGGACACCC
Y
TGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAACTTCCCTGAGAT
Celera SNP ID:            hCV11610156
SNP Position Transcript:  1912
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,2)   caucasian(C,6|T,10)   total(C,28|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 615, (L,CTG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,15|T,23)   total(C,44|T,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 615, (L,CTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,7|T,9)      total(C,7|T,9) ;JBIC-allele(C,559|T,932)   total(C,559|T,932)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:962, 615, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5071):
GACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTC
R
TGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTG
Celera SNP ID:            hCV27494999
SNP Position Transcript:  809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:962, 247, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:5072):
TGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCAT
Y
TGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAAC
Celera SNP ID:            hCV27470253
SNP Position Transcript:  2684
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:962, None   



Gene Number:                 95
Celera Gene:                 hCG1995465 - 61000125219669
Celera Transcript:           hCT2275824 - 61000125219693
Public Transcript Accession: NM_015658
Celera Protein:              hCP1882733 - 197000069425997
Public Protein Accession:    NP_056473
Gene Symbol:                 DKFZP564C186
Protein Name:                DKFZP564C186 protein
Celera Genomic Axis:         GA_x5YUV32VTH2(1697337..1712527)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:266):
GCGCCTGGCGGAGCTGACGGTGGACGAGTTCCTAGCTTCGGGCTTTGACTCCGAGTCCGAATCCGAGTCCGAAAATTCTCCACAAGCGGAGACACGGGAA
GCACGCGAGGCTGCCCGGAGTCCGGATAAGCCGGGCGGGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGC
TGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCARGAGAATGACCAGAGCCTRCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCC
GTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGGAGGAAGGAGAAGATGGGGACAGAGTCCCCAGAGGGCTGAAGGGG
AAGAAGAATTCTGTTCCTGTGACCGTCGCCATGGTTGAGAGATGGAAGCAGGCAGCAAAGCAACGCCTCACTCCAAAGCTGTTCCATGAAGTGGTACAGG
CGTTCCGAGCAGCTGTGGCCACCACCCGAGGGGACCAGGAAAGTGCTGAGGCCAACAAATTCCAGGTCACGGACAGTGCTGCATTCAATGCTCTGGTTAC
CTTCTGCATCAGAGACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTC
TGGGGGAAGCTTCRTGTGGACATCAAGGCTTWCCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGYGGCCGTGCTGCGGC
ACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGRTCGTATGGAGCACTGGGGARGAGTCTCT
GCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGTATGTGAGG
AACTGCAAGTTCACCTCGCCTGGTGCCCTCCCCTTCATCAGTTTCATGCAGTGGACCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGC
ACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCACYCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGT
GCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGYCCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGT
ATCAAGCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGCACTGCATCCGTGCCCTGACGCTGCTCTCGGGGAGCTCGGGGGCCTTCATCCCGGTGC
TGCCTTTCATCCTGGAGATGTTCCAGCAGGTCGACTTCAACAGGAAGCCAGGGCGCATGAGCTCCAAGCCCATCAACTTCTCCGTGATCCTGAAGCTGTC
CAATGTCAACCTGCAGGAGAAGGCGTACCGGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGC
TTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGTYGTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGA
AGGTTCAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCG
GGAAGAGGGGACACCCYTGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGAC
CTGAACTTCCCTGAGATCAAACGAAGGAAGATGGCTGACAGGAAGGATGAGGACAGGAAGCAATTTAAAGACCTCTTTGACCTGAACAGCTCTGAAGAGG
ACGACACCGAGGGATTCTCGGAGAGAGGGATACTGAGGCCCCTGAGCACTCGGCATGGGGTGGAAGACGATGAAGAGGACGAGGAGGAGGGCGAGGAGGA
CAGCAGCAACTCGGAGGATGGAGACCCAGACGCAGAGGCGGGGCTGGCCCCTGGGGAGCTGCAGCAGCTGGCCCAGGGGCCGGAGGACGAGCTGGAGGAT
CTGCAGCTCTCAGAGGACGACTGAGGCAGCCCATCTGGGGGGCCTGTAGGGGCTGCCGGGCTGGTGGCCAGTGTTTCCACCTCCCTGGCAGTCAGGCCTA
GAGGCTGGCGTCTGTGCAGTTGGGGGAGGCAGTAGACACGGGACAGGCTTTATTATTTATTTTTCAGCATGAAAGACCAAACGTATCGAGAGCTGGGCTG
GGCTGGGCTGGTGTGGCTGCTGAAGCCCCACAGCTGTGGGCTGCTGAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCC
AGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTYTGCCCTCCGTCTGCAGACCTCGTCCATYTGCACCAGGCTCTGCCTTCACTCCCC
CAAGTCTTTGRAAATTTGTTCYTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAARAAATAAAGCGGTGGGAGGCA
GGGCCATTGTGTTGAGTGRTGRCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGG
AAGTAGAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGTYGTGGGGGACAAGGGC
TGCTCTCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGAAAACTCGGCCCAGGC
GCCTGGCCACCTGCAGAGAGATGGCC

Protein Sequence    (SEQ ID NO:963):
MVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKA
YLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVVVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGAL
PFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFY
PLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVL
QLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRK
MADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD


SNP Information

Context             (SEQ ID NO:5073):
GAAGTCAGCTCCGCGGGGGAGCTGACCCTGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCT
Y
TGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTT
Celera SNP ID:            hCV26072051
SNP Position Transcript:  2546
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None   



Context             (SEQ ID NO:5074):
TTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTG
R
CTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTC
Celera SNP ID:            hCV25612508
SNP Position Transcript:  2722
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,36)   total(A,3|G,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5075):
CAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAA
R
AAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGG
Celera SNP ID:            hCV11447012
SNP Position Transcript:  2680
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,36)   total(A,2|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5076):
TTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTG
R
TGGCTCCTGGAGATTTGTGTGGCCCCACCCCTACCCCCGGCAACCTCAACACAGAGGCTGGGAAGGGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCA
Celera SNP ID:            hCV25612509
SNP Position Transcript:  2719
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5077):
GGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTC
Y
TTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTGTTGAGTGGTGG
Celera SNP ID:            hCV25612519
SNP Position Transcript:  2622
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(C,4|T,32)   total(C,6|T,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5078):
GGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCATCTGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTG
R
AAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAACCGAAAGAAATAAAGCGGTGGGAGGCAGGGCCATTGTG
Celera SNP ID:            hCV11447016
SNP Position Transcript:  2611
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,4|G,32)   total(A,5|G,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None   



Context             (SEQ ID NO:5079):
GGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCAGGAGAATGACCAGAGCCT
R
CTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTGAGGAGGAGGATGGAGCGG
Celera SNP ID:            hCV25612560
SNP Position Transcript:  256
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5080):
GTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGCTGAAGT
Y
GTTCCTCCGGGAGTGCAAGGTGGCCAACTACTGCCGGCAGGTGCAGCAGCTGCTTGGGAAGGTTCAGGAGAACTCGGCATACATCTGCAGCCGCCGCCAG
Celera SNP ID:            hCV25612561
SNP Position Transcript:  1641
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 404, (S,TCG)   (L,TTG)   



Context             (SEQ ID NO:5081):
ACGCCATGACCACCCGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGG
Y
CCCAGCGAAGCCCTCCAGCCCTTGGTCTACCCCCTTGCCCAAGTCATCATTGGCTGTATCAAGCTCATCCCCACTGCCCGCTTCTACCCGCTGCGAATGC
Celera SNP ID:            hCV25612456
SNP Position Transcript:  1243
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 271, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5082):
GGAGCCCCTCGGCCAGCCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCA
R
GAGAATGACCAGAGCCTGCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAGGAAGCCAGTG
Celera SNP ID:            hCV25612546
SNP Position Transcript:  238
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5083):
TGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACTGGGGA
R
GAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAGCAAATGTACATCACGT
Celera SNP ID:            hCV25612483
SNP Position Transcript:  892
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,30)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 154, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 154, (E,GAA)   (E,GAG)      154, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:5084):
CCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCAC
Y
CGCAAGAAGGAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCTGTGGTGCCGGGTCCTGAGCACTGCGGGCCCCAGCGAAGCCC
Celera SNP ID:            hCV25612468
SNP Position Transcript:  1156
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,32|T,4)   total(C,69|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 242, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,67|C,1396)   total(C,1396|T,67) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 242, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5085):
GACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTG
R
TCGTATGGAGCACTGGGGAGGAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCT
Celera SNP ID:            hCV25612495
SNP Position Transcript:  872
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 148, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 148, (I,ATC)   (V,GTC)      148, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:5086):
TCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGG
Y
GGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGAGAATGGTGGTCGTATGGAGCACT
Celera SNP ID:            hCV25612496
SNP Position Transcript:  786
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,34|T,4)   total(C,66|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 119, (A,GCG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 119, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:5087):
CAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTT
W
CCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACC
Celera SNP ID:            hCV25612497
SNP Position Transcript:  732
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,40)   total(A,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 101, (Y,TAC)   (F,TTC)   



Context             (SEQ ID NO:5088):
GGTCGGGGGCCCCTGGAAGTAGAGCCAAGGTCCCATTCTCCTGCTTGGGTGAAGTTTGACCGGCAAGGGCGTGGCCCCCTCCATAGGGGGACGTGGCCGT
Y
GTGGGGGACAAGGGCTGCTCTCCTGTGCCGAGTTCTCGCTCCGGGGCCCGCAGGGTTGGTGGCTGCAGTGGCAGAGCCACGGGGAAGCTGGCCACGTAGA
Celera SNP ID:            hCV25760128
SNP Position Transcript:  2885
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,20)   total(C,39|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None



Context             (SEQ ID NO:5089):
GGCATACATCTGCAGCCGCCGCCAGAGGGTTTCCTTCGGCGTCTCTGAGCAGCAGGCAGTGGAAGCCTGGGAGAAGCTGACCCGGGAAGAGGGGACACCC
Y
TGACCTTGTACTACAGCCACTGGCGCAAGCTGCGTGACCGGGAGATCCAGCTGGAGATCAGTGGCAAAGAGCGGCTGGAAGACCTGAACTTCCCTGAGAT
Celera SNP ID:            hCV11610156
SNP Position Transcript:  1817
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,2)   caucasian(C,6|T,10)   total(C,28|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 463, (L,CTG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,7)   caucasian(C,15|T,23)   total(C,44|T,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 463, (L,CTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,7|T,9)      total(C,7|T,9) ;JBIC-allele(C,559|T,932)   total(C,559|T,932)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:963, 463, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5090):
GACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAGGATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTC
R
TGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTG
Celera SNP ID:            hCV27494999
SNP Position Transcript:  714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:963, 95, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:5091):
TGACGTCAGCAGACCGAGACCAGTCCCAGTTCCAGGGGGAGGCCTGCAGGCCCCTGGCCCCTTCCACCACCTCTGCCCTCCGTCTGCAGACCTCGTCCAT
Y
TGCACCAGGCTCTGCCTTCACTCCCCCAAGTCTTTGGAAATTTGTTCTTTTCCTTTGAAGTCACATTTTCTTTTAAAATTTTTTGTTTTGCATCCGAAAC
Celera SNP ID:            hCV27470253
SNP Position Transcript:  2574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:963, None   



Gene Number:                 96
Celera Gene:                 hCG1996340 - 63000132512181
Celera Transcript:           hCT2277245 - 63000132512182
Public Transcript Accession: NM_139120
Celera Protein:              hCP1859558 - 197000069372692
Public Protein Accession:    NP_620831
Gene Symbol:                 YAP
Protein Name:                YY1 associated protein;FLJ10875;FLJ13914;HCCA2
Celera Genomic Axis:         GA_x5YUV32VSLS(5746071..5775483)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:267):
TGCTTTGGCGGCGGTTGGTGGCCGTGCGGGCGGGGAGGGAGGGGGAGGAGAGAAGAGGAGGTGGAGAAGGCTTGGGCTCGCGCCGCTGAAGTCGGCTTAC
CCGCTGGCCGCCTCCTGACAAGCGGGAGGGATCCGCGGTGGACCCAGGGAAGCGGAGGAGCCTGGCGGCCACCCCCTCTTCCTCACTTCCCTGYACTCTC
ATCGCTCTCGGCCTCCGACACGAAAAGGAAGCAAATGAGCTGATGGAAGATCTGTTTGAAACTAGACAGGGTCTTGCCATGTTCTGGAACTCATAGGCTC
AAGTAATCTTCCTGCCTCAACCTCCCAAAGTGCTGGAATTACAGTTCCAAGATGAGATGGGATTCTCCAACATGGAAGATGATGGCCCAGAAGAGGAGGA
GCGTGTGGCTGAGCCTCAAGCTAACTTTAACACCCCTCAAGCTCTACGGTTTGAGGAACTACTGGCCAACCTACTAAATGAACAACATCAGATAGCGAAG
GAACTATTTGAACAGCTGAAGATGAAGAAACCTTCAGCCAAACAGCAGAAGGAGGTAGAGAAGGTTAAACCCCAGTGTAAGGAAGTTCATCAGACCCTGA
TTCTGGACCCAGCACAAAGGAAGAGACTCCAGCAGCAGATGCAGCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCT
CAATCCGGAGGCCAGTAGCACCAGGATATGTCTTAAAGAGCTGGGAACCTTTGCTCAAAGCTCCATCGCCCTTCACCATCAGTACAACCCCAAGTTTCAG
ACCCTGTTCCAACCCTGTAACTTGATGGGAGCTATGCAGCTGATTGAAGACTTCAGCACACATGTCAGCATTGACTGCAGCCCTCATAAAACTGTCAAGA
AGACTGCCAATGAATTTCCCTGTTTGCCAAAGCAAGTGGCTTGGATCCTGGCCACAAGCAAGGTTTTCATGTATCCAGAGTTACTTCCAGTGTGTTCCCT
GAAGGCAAAGAATCCCCAGGATAAGATCCTCTTCACCAAGGCTGAGGACAATTTGTTAGCTTTAGGACTGAAGCATTTTGAAGGGACTGAGTTTCTTAAC
CCTCTAATCAGCAAGTACCTTCTAACCTGCAAGACTGCCCGCCAACTGACAGTGAGAATCAAGAACCTCAACATGAACAGAGCTCCTGACAACATCATTA
AATTTTATAAGAAGACCAAACAGCTGCCAGTCCTAGGAAAATGCTGTGAAGAGATCCAGCCACATCAGTGGAAGCCACCTATAGAGAGAGAAGAACACCG
GCTCCCATTCTGGTTAAAGGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGATGGTGCTAGAGAGGTAGGAAATATGACTGGAACCACT
GAGATCAACTCAGATCAARGCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGA
AGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAARCCCCTCCTTATCCAACCCAGCCCCTCTCTCCAGCCCAG
CTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGGTGCTCCGGATTCCTCACCCAATACAGCCAGCCACTGTT
TTACAGACAGTTCCAGGTGTCCCTCCACTGGGGGTCAGTGGAGGTGAGAGTTTTGAGTCTCCTGCAGCACTGCCTGCTATGCCCCCTGAGGCCAGGACAA
GCTTCCCTCTGTCTGAGTCCCAGACTTTGCTCTCTTCTGCCCCTGTGCCCAAGGTAATGATGCCCTCCCCTGCCTCTTCCATGTTTCGAAAGCCATATGT
GAGACGGAGACCCTCAAAAAGAAGGGGAGCCAGGGCCTTTCGCTGTATCAAACCTGCCCCTGTTATCCACCCTGCATCTGTTATCTTCACTGTTCCTGCT
ACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTGTGGCCCAGAGTCCCCAGACTATTCCCATCGCYACCC
TCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATCTTCC
TATACCATCCACCCCTGAAGATAAGGCCCACRTGAATGTGGACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTA
GAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCCSAAAGTGGAACATAGCCCAGGGCCTCCACCAGTCGATAAACAGTGCCAAGAAGGATTGT
CAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGGAGGGAAGGCAAGCTCTGGAGCCGCTCCCTCAGGGCATCCAGGAGTCTCTAAACAACTC
TTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCTSAAGATGCTACAGAGGAAATCAGTGGATTTCTTTGAGCTAGGAGAATAAGAGTCTGGAGA
CTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTAAAGGGTACTTAAACCCCAGATTTTGCAACTGGGGCT
CTTGAGCAGCTTGCTTTAGCCTGCTCCCMCTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTTMATTGTTTCATTGATTTGTGCAA
TTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACAGTAACATATTTTGGCAAGCCAGCCTGGAG

Protein Sequence    (SEQ ID NO:964):
MGFSNMEDDGPEEEERVAEPQANFNTPQALRFEELLANLLNEQHQIAKELFEQLKMKKPSAKQQKEVEKVKPQCKEVHQTLILDPAQRKRLQQQMQQHVQ
LLTQIHLLATCNPNLNPEASSTRICLKELGTFAQSSIALHHQYNPKFQTLFQPCNLMGAMQLIEDFSTHVSIDCSPHKTVKKTANEFPCLPKQVAWILAT
SKVFMYPELLPVCSLKAKNPQDKILFTKAEDNLLALGLKHFEGTEFLNPLISKYLLTCKTARQLTVRIKNLNMNRAPDNIIKFYKKTKQLPVLGKCCEEI
QPHQWKPPIEREEHRLPFWLKASLPSIQEELRHMADGAREVGNMTGTTEINSDQGLEKDNSELGSETRYPLLLPKGVVLKLKPVADRFPKKAWRQKRSSV
LKPLLIQPSPSLQPSFNPGKTPAQSTHSEAPPSKMVLRIPHPIQPATVLQTVPGVPPLGVSGGESFESPAALPAMPPEARTSFPLSESQTLLSSAPVPKV
MMPSPASSMFRKPYVRRRPSKRRGARAFRCIKPAPVIHPASVIFTVPATTVKIVSLGGGCNMIQPVNAAVAQSPQTIPIATLLVNPTSFPCPLNQPLVAS
SVSPLIVSGNSVNLPIPSTPEDKAHMNVDIACAVADGENAFQGLEPKLEPQELSPLSATVFPKVEHSPGPPPVDKQCQEGLSENSAYRWTVVKTEEGRQA
LEPLPQGIQESLNNSSPGDLEEVVKMEPEDATEEISGFL


SNP Information

Context             (SEQ ID NO:5092):
CTGCTACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTGTGGCCCAGAGTCCCCAGACTATTCCCATCGC
Y
ACCCTCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATC
Celera SNP ID:            hCV27065134
SNP Position Transcript:  2096
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:964, 580, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5093):
ATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATCTTCCTATACCATCCACCCCTGAAGATAAGGCCCAC
R
TGAATGTGGACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTAC
Celera SNP ID:            hCV27065135
SNP Position Transcript:  2232
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:964, 626, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5094):
GGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGATGGTGCTAGAGAGGTAGGAAATATGACTGGAACCACTGAGATCAACTCAGATCAA
R
GCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTT
Celera SNP ID:            hCV25995781
SNP Position Transcript:  1419
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,36)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:964, 355, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:5095):
GGCTTACCCGCTGGCCGCCTCCTGACAAGCGGGAGGGATCCGCGGTGGACCCAGGGAAGCGGAGGAGCCTGGCGGCCACCCCCTCTTCCTCACTTCCCTG
Y
ACTCTCATCGCTCTCGGCCTCCGACACGAAAAGGAAGCAAATGAGCTGATGGAAGATCTGTTTGAAACTAGACAGGGTCTTGCCATGTTCTGGAACTCAT
Celera SNP ID:            hCV25990810
SNP Position Transcript:  194
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:964, None



Context             (SEQ ID NO:5096):
ACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCC
S
AAAGTGGAACATAGCCCAGGGCCTCCACCAGTCGATAAACAGTGCCAAGAAGGATTGTCAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGG
Celera SNP ID:            hCV27065136
SNP Position Transcript:  2342
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:964, 662, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:5097):
GGAGGGAAGGCAAGCTCTGGAGCCGCTCCCTCAGGGCATCCAGGAGTCTCTAAACAACTCTTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCT
S
AAGATGCTACAGAGGAAATCAGTGGATTTCTTTGAGCTAGGAGAATAAGAGTCTGGAGACTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGG
Celera SNP ID:            hCV9632123
SNP Position Transcript:  2541
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:964, 729, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:5098):
CCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCCACTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTT
M
ATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACAGTAACATATTTTGG
Celera SNP ID:            hCV11182048
SNP Position Transcript:  2778
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:964, None   



Context             (SEQ ID NO:5099):
GGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTAAAGGGTACTTAAACCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCC
M
CTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTTCATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAA
Celera SNP ID:            hCV9632128
SNP Position Transcript:  2729
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:964, None   



Context             (SEQ ID NO:5100):
ACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAA
R
CCCCTCCTTATCCAACCCAGCCCCTCTCTCCAGCCCAGCTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGG
Celera SNP ID:            hCV697420
SNP Position Transcript:  1562
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36)   total(A,60|G,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:964, 402, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,18)   total(A,2|G,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:964, 402, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   SG_12_AA(A,11|G,12)   total(G,12|A,11) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:964, 402, (K,AAA)   (K,AAG)      402, (K,AAG)   (K,AAA)      



Gene Number:                 96
Celera Gene:                 hCG1996340 - 63000132512181
Celera Transcript:           hCT2277246 - 63000132512198
Public Transcript Accession: NM_139120
Celera Protein:              hCP1859560 - 197000069372694
Public Protein Accession:    NP_620831
Gene Symbol:                 YAP
Protein Name:                YY1 associated protein;FLJ10875;FLJ13914;HCCA2
Celera Genomic Axis:         GA_x5YUV32VSLS(5745852..5781857)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:268):
GGAGGCGAGCCGCAGCGCCGCGGCGACGAACCCAGGGAGAAAAGGAAGCAAATGAGCTGATGGAAGATCTGTTTGAAACTTTCCAAGATGAGATGGGATT
CTCCAACATGGAAGATGATGGCCCAGAAGAGGAGGAGCGTGTGGCTGAGCCTCAAGCTAACTTTAACACCCCTCAAGCTCTACGGTTTGAGGAACTACTG
GCCAACCTACTAAATGAACAACATCAGATAGCGAAGGAACTATTTGAACAGCTGAAGATGAAGAAACCTTCAGCCAAACAGCAGAAGGAGGTAGAGAAGG
TTAAACCCCAGTGTAAGGAAGTTCATCAGACCCTGATTCTGGACCCAGCACAAAGGAAGAGACTCCAGCAGCAGATGCAGCAGCATGTTCAGCTCTTGAC
ACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTAAAGAGCTGGGAACCTTTGCTCAAAGCTCC
ATCGCCCTTCACCATCAGTACAACCCCAAGTTTCAGACCCTGTTCCAACCCTGTAACTTGATGGGAGCTATGCAGCTGATTGAAGACTTCAGCACACATG
TCAGCATTGACTGCAGCCCTCATAAAACTGTCAAGAAGACTGCCAATGAATTTCCCTGTTTGCCAAAGCAAGTGGCTTGGATCCTGGCCACAAGCAAGGT
TTTCATGTATCCAGAGTTACTTCCAGTGTGTTCCCTGAAGGCAAAGAATCCCCAGGATAAGATCCTCTTCACCAAGGCTGAGGACAATTTGTTAGCTTTA
GGACTGAAGCATTTTGAAGGGACTGAGTTTCTTAACCCTCTAATCAGCAAGTACCTTCTAACCTGCAAGACTGCCCGCCAACTGACAGTGAGAATCAAGA
ACCTCAACATGAACAGAGCTCCTGACAACATCATTAAATTTTATAAGAAGACCAAACAGCTGCCAGTCCTAGGAAAATGCTGTGAAGAGATCCAGCCACA
TCAGTGGAAGCCACCTATAGAGAGAGAAGAACACCGGCTCCCATTCTGGTTAAAGGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGAT
GGTGCTAGAGAGGTAGGAAATATGACTGGAACCACTGAGATCAACTCAGATCAARGCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACC
CACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAARCC
CCTCCTTATCCAACCCAGCCCCTCTCTCCAGCCCAGCTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGGTG
CTCCGGATTCCTCACCCAATACAGCCAGCCACTGTTTTACAGACAGTTCCAGGTGTCCCTCCACTGGGGGTCAGTGGAGGTGAGAGTTTTGAGTCTCCTG
CAGCACTGCCTGCTATGCCCCCTGAGGCCAGGACAAGCTTCCCTCTGTCTGAGTCCCAGACTTTGCTCTCTTCTGCCCCTGTGCCCAAGGTAATGATGCC
CTCCCCTGCCTCTTCCATGTTTCGAAAGCCATATGTGAGACGGAGACCCTCAAAAAGAAGGGGAGCCAGGGCCTTTCGCTGTATCAAACCTGCCCCTGTT
ATCCACCCTGCATCTGTTATCTTCACTGTTCCTGCTACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTG
TGGCCCAGAGTCCCCAGACTATTCCCATCGCYACCCTCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTC
ACCCTTAATTGTTTCTGGCAATTCTGTGAATCTTCCTATACCATCCACCCCTGAAGATAAGGCCCACRTGAATGTGGACATTGCTTGTGCTGTGGCTGAT
GGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCCSAAAGTGGAACATAGCCCAGGGC
CTCCACCAGTCGATAAACAGTGCCAAGAAGGATTGTCAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGGAGGGAAGGCAAGCTCTGGAGCC
GCTCCCTCAGGGCATCCAGGAGTCTCTAAACAACTCTTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCTSAAGATGCTACAGAGGAAATCAGT
GGATTTCTTTGAGCTAGGAGAATAAGAGTCTGGAGACTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTA
AAGGGTACTTAAACCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCCMCTCTGTGGAATATACTTTTGCTTCAATAAATCTGT
GCTTTTATTGCTTMATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACA
GTAACATATTTTGGCAAGCCAGCCTGGAGGGTCAAGCCTGCAATACCTGAAGCCCCAGACCTGTAACTTGAAGCTTCCGTCAGCCACTATACCTGTGAAC
CTGTGGAAGACCTGAAGTACCTGTTTTAAAGACAGTCAAAAGATAAGTGAATGCCTACCAACTCTCCTTGGTGTCTATGCTGCATAGTTACTGTAGGTTT
GATAATAGTAGCAGTTTTTATATTTTTATAATTTATTGCCTTCTTCCAAATGGA

Protein Sequence    (SEQ ID NO:965):
MEDLFETFQDEMGFSNMEDDGPEEEERVAEPQANFNTPQALRFEELLANLLNEQHQIAKELFEQLKMKKPSAKQQKEVEKVKPQCKEVHQTLILDPAQRK
RLQQQMQQHVQLLTQIHLLATCNPNLNPEASSTRICLKELGTFAQSSIALHHQYNPKFQTLFQPCNLMGAMQLIEDFSTHVSIDCSPHKTVKKTANEFPC
LPKQVAWILATSKVFMYPELLPVCSLKAKNPQDKILFTKAEDNLLALGLKHFEGTEFLNPLISKYLLTCKTARQLTVRIKNLNMNRAPDNIIKFYKKTKQ
LPVLGKCCEEIQPHQWKPPIEREEHRLPFWLKASLPSIQEELRHMADGAREVGNMTGTTEINSDQGLEKDNSELGSETRYPLLLPKGVVLKLKPVADRFP
KKAWRQKRSSVLKPLLIQPSPSLQPSFNPGKTPAQSTHSEAPPSKMVLRIPHPIQPATVLQTVPGVPPLGVSGGESFESPAALPAMPPEARTSFPLSESQ
TLLSSAPVPKVMMPSPASSMFRKPYVRRRPSKRRGARAFRCIKPAPVIHPASVIFTVPATTVKIVSLGGGCNMIQPVNAAVAQSPQTIPIATLLVNPTSF
PCPLNQPLVASSVSPLIVSGNSVNLPIPSTPEDKAHMNVDIACAVADGENAFQGLEPKLEPQELSPLSATVFPKVEHSPGPPPVDKQCQEGLSENSAYRW
TVVKTEEGRQALEPLPQGIQESLNNSSPGDLEEVVKMEPEDATEEISGFL


SNP Information

Context             (SEQ ID NO:5101):
ACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAA
R
CCCCTCCTTATCCAACCCAGCCCCTCTCTCCAGCCCAGCTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGG
Celera SNP ID:            hCV697420
SNP Position Transcript:  1298
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36)   total(A,60|G,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:965, 413, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,18)   total(A,2|G,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:965, 413, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   SG_12_AA(A,11|G,12)   total(G,12|A,11) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:965, 413, (K,AAA)   (K,AAG)      413, (K,AAG)   (K,AAA)      



Context             (SEQ ID NO:5102):
CTGCTACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTGTGGCCCAGAGTCCCCAGACTATTCCCATCGC
Y
ACCCTCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATC
Celera SNP ID:            hCV27065134
SNP Position Transcript:  1832
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:965, 591, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5103):
ATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATCTTCCTATACCATCCACCCCTGAAGATAAGGCCCAC
R
TGAATGTGGACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTAC
Celera SNP ID:            hCV27065135
SNP Position Transcript:  1968
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:965, 637, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5104):
GGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGATGGTGCTAGAGAGGTAGGAAATATGACTGGAACCACTGAGATCAACTCAGATCAA
R
GCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTT
Celera SNP ID:            hCV25995781
SNP Position Transcript:  1155
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,36)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:965, 366, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:5105):
ACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCC
S
AAAGTGGAACATAGCCCAGGGCCTCCACCAGTCGATAAACAGTGCCAAGAAGGATTGTCAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGG
Celera SNP ID:            hCV27065136
SNP Position Transcript:  2078
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:965, 673, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:5106):
GGAGGGAAGGCAAGCTCTGGAGCCGCTCCCTCAGGGCATCCAGGAGTCTCTAAACAACTCTTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCT
S
AAGATGCTACAGAGGAAATCAGTGGATTTCTTTGAGCTAGGAGAATAAGAGTCTGGAGACTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGG
Celera SNP ID:            hCV9632123
SNP Position Transcript:  2277
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:965, 740, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:5107):
CCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCCACTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTT
M
ATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACAGTAACATATTTTGG
Celera SNP ID:            hCV11182048
SNP Position Transcript:  2514
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:965, None   



Context             (SEQ ID NO:5108):
GGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTAAAGGGTACTTAAACCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCC
M
CTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTTCATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAA
Celera SNP ID:            hCV9632128
SNP Position Transcript:  2465
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:965, None   



Gene Number:                 96
Celera Gene:                 hCG1996340 - 63000132512181
Celera Transcript:           hCT2277247 - 63000132512213
Public Transcript Accession: NM_139120
Celera Protein:              hCP1859561 - 197000069372695
Public Protein Accession:    NP_620831
Gene Symbol:                 YAP
Protein Name:                YY1 associated protein;FLJ10875;FLJ13914;HCCA2
Celera Genomic Axis:         GA_x5YUV32VSLS(5745844..5781857)
Chromosome:                  Chr1
OMIM number:                 602074
OMIM Information:            DEATH-ASSOCIATED PROTEIN 3;DAP3


Transcript Sequence (SEQ ID NO:269):
ATGGAGGAGGAGGCGAGCCGCAGCGCCGCGGCGACGAACCCAGGGAGTCGGCTTACCCGCTGGCCGCCTCCTGACAAGCGGGAGGGATCCGCGGTGGACC
CAGGGAAGCGGAGGAGCCTGGCGGCCACCCCCTCTTCCTCACTTCCCTGYACTCTCATCGCTCTCGGCCTCCGACACGAAAAGGAAGCAAATGAGCTGAT
GGAAGATCTGTTTGAAACTTTCCAAGATGAGATGGGATTCTCCAACATGGAAGATGATGGCCCAGAAGAGGAGGAGCGTGTGGCTGAGCCTCAAGCTAAC
TTTAACACCCCTCAAGCTCTACGGTTTGAGGAACTACTGGCCAACCTACTAAATGAACAACATCAGATAGCGAAGGAACTATTTGAACAGCTGAAGATGA
AGAAACCTTCAGCCAAACAGCAGAAGGAGGTAGAGAAGGTTAAACCCCAGTGTAAGGAAGTTCATCAGACCCTGATTCTGGACCCAGCACAAAGGAAGAG
ACTCCAGCAGCAGATGCAGCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGG
ATATGTCTTAAAGAGCTGGGAACCTTTGCTCAAAGCTCCATCGCCCTTCACCATCAGTACAACCCCAAGTTTCAGACCCTGTTCCAACCCTGTAACTTGA
TGGGAGCTATGCAGCTGATTGAAGACTTCAGCACACATGTCAGCATTGACTGCAGCCCTCATAAAACTGTCAAGAAGACTGCCAATGAATTTCCCTGTTT
GCCAAAGCAAGTGGCTTGGATCCTGGCCACAAGCAAGGTTTTCATGTATCCAGAGTTACTTCCAGTGTGTTCCCTGAAGGCAAAGAATCCCCAGGATAAG
ATCCTCTTCACCAAGGCTGAGGACAACAAGTACCTTCTAACCTGCAAGACTGCCCGCCAACTGACAGTGAGAATCAAGAACCTCAACATGAACAGAGCTC
CTGACAACATCATTAAATTTTATAAGAAGACCAAACAGCTGCCAGTCCTAGGAAAATGCTGTGAAGAGATCCAGCCACATCAGTGGAAGCCACCTATAGA
GAGAGAAGAACACCGGCTCCCATTCTGGTTAAAGGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGATGGTGCTAGAGAGGTAGGAAAT
ATGACTGGAACCACTGAGATCAACTCAGATCAARGCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACCCACTGCTATTGCCTAAGGGTG
TAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAARCCCCTCCTTATCCAACCCAGCCC
CTCTCTCCAGCCCAGCTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGGTGCTCCGGATTCCTCACCCAATA
CAGCCAGCCACTGTTTTACAGACAGTTCCAGGTGTCCCTCCACTGGGGGTCAGTGGAGGTGAGAGTTTTGAGTCTCCTGCAGCACTGCCTGCTATGCCCC
CTGAGGCCAGGACAAGCTTCCCTCTGTCTGAGTCCCAGACTTTGCTCTCTTCTGCCCCTGTGCCCAAGGTAATGATGCCCTCCCCTGCCTCTTCCATGTT
TCGAAAGCCATATGTGAGACGGAGACCCTCAAAAAGAAGGGGAGCCAGGGCCTTTCGCTGTATCAAACCTGCCCCTGTTATCCACCCTGCATCTGTTATC
TTCACTGTTCCTGCTACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTGTGGCCCAGAGTCCCCAGACTA
TTCCCATCGCYACCCTCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAA
TTCTGTGAATCTTCCTATACCATCCACCCCTGAAGATAAGGCCCACRTGAATGTGGACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGC
CTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCCSAAAGTGGAACATAGCCCAGGGCCTCCACCAGTCGATAAACAGT
GCCAAGAAGGATTGTCAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGGAGGGAAGGCAAGCTCTGGAGCCGCTCCCTCAGGGCATCCAGGA
GTCTCTAAACAACTCTTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCTSAAGATGCTACAGAGGAAATCAGTGGATTTCTTTGAGCTAGGAGA
ATAAGAGTCTGGAGACTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTAAAGGGTACTTAAACCCCAGAT
TTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCCMCTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTTMATTGTTT
CATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACAGTAACATATTTTGGCAAGCCA
GCCTGGAGGGTCAAGCCTGCAATACCTGAAGCCCCAGACCTGTAACTTGAAGCTTCCGTCAGCCACTATACCTGTGAACCTGTGGAAGACCTGAAGTACC
TGTTTTAAAGACAGTCAAAAGATAAGTGAATGCCTACCAACTCTCCTTGGTGTCTATGCTGCATAGTTACTGTAGGTTTGATAATAGTAGCAGTTTTTAT
ATTTTTATAATTTATTGCCTTCTTCCAAATGGA

Protein Sequence    (SEQ ID NO:966):
MEEEASRSAAATNPGSRLTRWPPPDKREGSAVDPGKRRSLAATPSSSLPCTLIALGLRHEKEANELMEDLFETFQDEMGFSNMEDDGPEEEERVAEPQAN
FNTPQALRFEELLANLLNEQHQIAKELFEQLKMKKPSAKQQKEVEKVKPQCKEVHQTLILDPAQRKRLQQQMQQHVQLLTQIHLLATCNPNLNPEASSTR
ICLKELGTFAQSSIALHHQYNPKFQTLFQPCNLMGAMQLIEDFSTHVSIDCSPHKTVKKTANEFPCLPKQVAWILATSKVFMYPELLPVCSLKAKNPQDK
ILFTKAEDNKYLLTCKTARQLTVRIKNLNMNRAPDNIIKFYKKTKQLPVLGKCCEEIQPHQWKPPIEREEHRLPFWLKASLPSIQEELRHMADGAREVGN
MTGTTEINSDQGLEKDNSELGSETRYPLLLPKGVVLKLKPVADRFPKKAWRQKRSSVLKPLLIQPSPSLQPSFNPGKTPAQSTHSEAPPSKMVLRIPHPI
QPATVLQTVPGVPPLGVSGGESFESPAALPAMPPEARTSFPLSESQTLLSSAPVPKVMMPSPASSMFRKPYVRRRPSKRRGARAFRCIKPAPVIHPASVI
FTVPATTVKIVSLGGGCNMIQPVNAAVAQSPQTIPIATLLVNPTSFPCPLNQPLVASSVSPLIVSGNSVNLPIPSTPEDKAHMNVDIACAVADGENAFQG
LEPKLEPQELSPLSATVFPKVEHSPGPPPVDKQCQEGLSENSAYRWTVVKTEEGRQALEPLPQGIQESLNNSSPGDLEEVVKMEPEDATEEISGFL


SNP Information

Context             (SEQ ID NO:5109):
CTGCTACCACTGTGAAGATTGTGAGCCTTGGCGGTGGCTGTAACATGATCCAGCCTGTCAATGCGGCTGTGGCCCAGAGTCCCCAGACTATTCCCATCGC
Y
ACCCTCTTGGTTAACCCTACTTCCTTCCCCTGTCCATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATC
Celera SNP ID:            hCV27065134
SNP Position Transcript:  1911
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 637, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5110):
GGCTTACCCGCTGGCCGCCTCCTGACAAGCGGGAGGGATCCGCGGTGGACCCAGGGAAGCGGAGGAGCCTGGCGGCCACCCCCTCTTCCTCACTTCCCTG
Y
ACTCTCATCGCTCTCGGCCTCCGACACGAAAAGGAAGCAAATGAGCTGATGGAAGATCTGTTTGAAACTTTCCAAGATGAGATGGGATTCTCCAACATGG
Celera SNP ID:            hCV25990810
SNP Position Transcript:  150
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 50, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:5111):
ATTGAACCAGCCCCTTGTGGCCTCCTCTGTCTCACCCTTAATTGTTTCTGGCAATTCTGTGAATCTTCCTATACCATCCACCCCTGAAGATAAGGCCCAC
R
TGAATGTGGACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTAC
Celera SNP ID:            hCV27065135
SNP Position Transcript:  2047
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:966, 683, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5112):
GGCCAGTCTGCCATCCATCCAGGAAGAACTGCGGCACATGGCTGATGGTGCTAGAGAGGTAGGAAATATGACTGGAACCACTGAGATCAACTCAGATCAA
R
GCCTAGAAAAAGACAACTCAGAGTTGGGGAGTGAAACTCGGTACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTT
Celera SNP ID:            hCV25995781
SNP Position Transcript:  1234
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,36)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:966, 412, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:5113):
ACATTGCTTGTGCTGTGGCTGATGGGGAAAATGCCTTTCAGGGCCTAGAACCCAAATTAGAGCCCCAGGAACTATCTCCTCTCTCTGCTACTGTTTTCCC
S
AAAGTGGAACATAGCCCAGGGCCTCCACCAGTCGATAAACAGTGCCAAGAAGGATTGTCAGAGAACAGTGCCTATCGCTGGACCGTTGTGAAAACAGAGG
Celera SNP ID:            hCV27065136
SNP Position Transcript:  2157
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 719, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:5114):
GGAGGGAAGGCAAGCTCTGGAGCCGCTCCCTCAGGGCATCCAGGAGTCTCTAAACAACTCTTCCCCTGGGGATTTAGAGGAAGTTGTCAAGATGGAACCT
S
AAGATGCTACAGAGGAAATCAGTGGATTTCTTTGAGCTAGGAGAATAAGAGTCTGGAGACTGGGAGCCTTCACTTCGGCCTCCGATTGGTGGCGCATAGG
Celera SNP ID:            hCV9632123
SNP Position Transcript:  2356
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:966, 786, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:5115):
CCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCCACTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTT
M
ATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAAGAACCTGGACAAATTGTAGTCAAGACCCTCCGACAGTAACATATTTTGG
Celera SNP ID:            hCV11182048
SNP Position Transcript:  2593
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:966, None   



Context             (SEQ ID NO:5116):
GGTGGCGCATAGGGTGTAACCAATAGGAAACCCCTAAAGGGTACTTAAACCCCAGATTTTGCAACTGGGGCTCTTGAGCAGCTTGCTTTAGCCTGCTCCC
M
CTCTGTGGAATATACTTTTGCTTCAATAAATCTGTGCTTTTATTGCTTCATTGTTTCATTGATTTGTGCAATTTGTTCAGTTCTTCATTCAACATTCCAA
Celera SNP ID:            hCV9632128
SNP Position Transcript:  2544
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:966, None   



Context             (SEQ ID NO:5117):
ACCCACTGCTATTGCCTAAGGGTGTAGTCCTGAAACTGAAGCCAGTTGCCGACCGTTTCCCCAAGAAGGCTTGGAGACAGAAGCGTTCATCAGTCCTGAA
R
CCCCTCCTTATCCAACCCAGCCCCTCTCTCCAGCCCAGCTTCAACCCTGGGAAAACACCAGCCCAATCAACTCATTCAGAAGCCCCTCCGAGCAAAATGG
Celera SNP ID:            hCV697420
SNP Position Transcript:  1377
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36)   total(A,60|G,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 459, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,18)   total(A,2|G,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 459, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   SG_12_AA(A,11|G,12)   total(G,12|A,11) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:966, 459, (K,AAA)   (K,AAG)      459, (K,AAG)   (K,AAA)      



Gene Number:                 97
Celera Gene:                 hCG1997137 - 147000095772290
Celera Transcript:           hCT2278500 - 147000095772296
Public Transcript Accession: NM_002295
Celera Protein:              hCP1859691 - 197000069372825
Public Protein Accession:    NP_002286
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VSLS(7054356..7055551)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:270):
GCGGCCTACAGAGGGGTCCATACCGTGTTGTTCTGGATTCCCGTTGTAACTTAAAGGGAAATTTTCACAATGTCCAGAGCCCTTGATGTCCTGCAAATGA
AGGAGGAGGATGTCCTTAAGTTCCTTGCAGCAGGAACCCACTTAGGTGGCACTAATCTTGACTTCCAGATGGAACAGTACATCTATAAAAGGAAAAGTGA
TGGCATCTACATCATAAATCTGAAGAGGACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATA
TCCTCCAGGRATACTGGCCAGAGGGCCAYGCTGAAGTTTGCTGCTGCCACTGGAGMCACTCCAATTGCTGGCCACTTCACTCCTGSAACCTTCACTTCCG
GGAGCCACAGCTTCYTGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACA
GATTCTCCTCTGCGCTATGTGGACATTGCCATCCCATGCARCAATAAGGGAGCTCACTCAGTGGGTTGGATGTGGTGGATGCTGGCTCAGGAAGTTCTGC
GCATGCGTGGCACCATTTCCCGTGAACACCCATGGGAGGTCATGCCTGATCTCTGCTTCTACAGAGATCCTGAAGAGATTGAAAAAGAAGAGCAGGCTGC
TGCTGAAGAGGCAGTGACCAAGGAGGAATTTCAGGGTGAATGGACTGCTCCAGCTCCTGAGTTCACTGCTACTCAGCCTGAGGTTGCAGACTGGTCTGAA
GGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAGYGCTCAGCCTGCCAYGGAAGACTGGTCTGCAGCTCCCACTGCTCAGG
CCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGGCTCTTAAGCAACATGGAAAAATGGTTGATGGAAAATAAATAAACAT
CAGTTTCTAAAAAAAAAAAAGAAAAAAAGAAAGTGGTGAAACTGTTTAGTGAACAGCCTTTGGCCAAGAAGAAGACTTATGACTGGTATCCAGATTACAA
TACTTATTTTGTACTCATGGGGACATTCTTATGCCTTGGCCTCTACAGAGATGAGCATCAAGATTTTAAGGATGAG

Protein Sequence    (SEQ ID NO:967):
MSRALDVLQMKEEDVLKFLAAGTHLGGTNLDFQMEQYIYKRKSDGIYIINLKRTWEKLLLAARAIVAIENPADVSVISSRNTGQRAMLKFAAATGATPIA
GHFTPGTFTSGSHSFLWLLTPGLTTSLSRRYLMLTYLPLRCVTQILLCAMWTLPSHATIRELTQWVGCGGCWLRKFCACVAPFPVNTHGRSCLISASTEI
LKRLKKKSRLLLKRQ


SNP Information

Context             (SEQ ID NO:5118):
TGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTTCCGGGAGCCACAGCTTC
Y
TGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACAGATTCTCCTCTGCGC
Celera SNP ID:            hCV25756445
SNP Position Transcript:  415
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,6)   caucasian(C,15|T,3)   total(C,19|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:967, 116, (L,CTG)   (L,TTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,5)   total(C,5|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:967, 116, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5119):
CATCATAAATCTGAAGAGGACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGG
R
ATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTTCCGGGAGCCACAG
Celera SNP ID:            hCV25757288
SNP Position Transcript:  310
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,35|G,5)   total(A,64|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:967, 81, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5120):
CTCCTGAGTTCACTGCTACTCAGCCTGAGGTTGCAGACTGGTCTGAAGGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAG
Y
GCTCAGCCTGCCACGGAAGACTGGTCTGCAGCTCCCACTGCTCAGGCCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGG
Celera SNP ID:            hCV25760361
SNP Position Transcript:  854
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:967, None



Context             (SEQ ID NO:5121):
CGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAG
M
CACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTTCCGGGAGCCACAGCTTCCTGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGG
Celera SNP ID:            hCV25756609
SNP Position Transcript:  356
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,24)   caucasian(A,5|C,35)   total(A,7|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:967, 96, (D,GAC)   (A,GCC)   



Context             (SEQ ID NO:5122):
GATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTG
S
AACCTTCACTTCCGGGAGCCACAGCTTCCTGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTG
Celera SNP ID:            hCV25756545
SNP Position Transcript:  386
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,26)   caucasian(C,5|G,35)   total(C,7|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:967, 106, (A,GCA)   (G,GGA)   



Context             (SEQ ID NO:5123):
CACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACAGATTCTCCTCTGCGCTATGTGGACATTGCCATCCCATGCA
R
CAATAAGGGAGCTCACTCAGTGGGTTGGATGTGGTGGATGCTGGCTCAGGAAGTTCTGCGCATGCGTGGCACCATTTCCCGTGAACACCCATGGGAGGTC
Celera SNP ID:            hCV26292332
SNP Position Transcript:  541
SNP Source:               Celera
Population(Allele,Count): no_pop(G,6|A,6)   total(G,6|A,6) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:967, 158, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:5124):
ACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCA
Y
GCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTTCCGGGAGCCACAGCTTCCTGTGGTTACTGACC
Celera SNP ID:            hCV25757243
SNP Position Transcript:  329
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(C,5|T,35)   total(C,6|T,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:967, 87, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:5125):
GCTACTCAGCCTGAGGTTGCAGACTGGTCTGAAGGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAGCGCTCAGCCTGCCA
Y
GGAAGACTGGTCTGCAGCTCCCACTGCTCAGGCCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGGCTCTTAAGCAACAT
Celera SNP ID:            hCV25616524
SNP Position Transcript:  868
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:967, None



Gene Number:                 97
Celera Gene:                 hCG1997137 - 147000095772290
Celera Transcript:           hCT2278502 - 147000095772291
Public Transcript Accession: NM_002295
Celera Protein:              hCP1859690 - 197000069372824
Public Protein Accession:    NP_002286
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VSLS(7054335..7055551)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:271):
TGGTGAAACTGCTTTTTCTGCGCGGCCTACAGAGGGGTCCATACCGTGTTGTTCTGGATTCCCGTTGTAACTTAAAGGGAAATTTTCACAATGTCCAGAG
CCCTTGATGTCCTGCAAATGAAGGAGGAGGATGTCCTTAAGTTCCTTGCAGCAGGAACCCACTTAGGTGGCACTAATCTTGACTTCCAGATGGAACAGTA
CATCTATAAAAGGAAAAGTGATGGCATCTACATCATAAATCTGAAGAGGACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAAC
CCTGCTGATGTCAGTGTTATATCCTCCAGGRATACTGGCCAGAGGGCCAYGCTGAAGTTTGCTGCTGCCACTGGAGMCACTCCAATTGCTGGCCACTTCA
CTCCTGSAACCTTCACTAACCGGATCCAGGCAGCCTTCCGGGAGCCACAGCTTCYTGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGT
ATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACAGATTCTCCTCTGCGCTATGTGGACATTGCCATCCCATGCARCAATAAGGGAGCTCACTCA
GTGGGTTGGATGTGGTGGATGCTGGCTCAGGAAGTTCTGCGCATGCGTGGCACCATTTCCCGTGAACACCCATGGGAGGTCATGCCTGATCTCTGCTTCT
ACAGAGATCCTGAAGAGATTGAAAAAGAAGAGCAGGCTGCTGCTGAAGAGGCAGTGACCAAGGAGGAATTTCAGGGTGAATGGACTGCTCCAGCTCCTGA
GTTCACTGCTACTCAGCCTGAGGTTGCAGACTGGTCTGAAGGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAGYGCTCAG
CCTGCCAYGGAAGACTGGTCTGCAGCTCCCACTGCTCAGGCCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGGCTCTTA
AGCAACATGGAAAAATGGTTGATGGAAAATAAATAAACATCAGTTTCTAAAAAAAAAAAAGAAAAAAAGAAAGTGGTGAAACTGTTTAGTGAACAGCCTT
TGGCCAAGAAGAAGACTTATGACTGGTATCCAGATTACAATACTTATTTTGTACTCATGGGGACATTCTTATGCCTTGGCCTCTACAGAGATGAGCATCA
AGATTTTAAGGATGAG

Protein Sequence    (SEQ ID NO:968):
MSRALDVLQMKEEDVLKFLAAGTHLGGTNLDFQMEQYIYKRKSDGIYIINLKRTWEKLLLAARAIVAIENPADVSVISSRNTGQRAMLKFAAATGATPIA
GHFTPGTFTNRIQAAFREPQLPVVTDPRADHQPLTEVSYVNLPTIALCNTDSPLRYVDIAIPCNNKGAHSVGWMWWMLAQEVLRMRGTISREHPWEVMPD
LCFYRDPEEIEKEEQAAAEEAVTKEEFQGEWTAPAPEFTATQPEVADWSEGLQVPSVSIQ


SNP Information

Context             (SEQ ID NO:5126):
AAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTAACCGGATCCAGGCAGCCTTCCGGGAGCCACAGCTTC
Y
TGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACAGATTCTCCTCTGCGC
Celera SNP ID:            hCV25756445
SNP Position Transcript:  455
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,6)   caucasian(C,15|T,3)   total(C,19|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 122, (P,CCT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,5)   total(C,5|T,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 122, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5127):
CATCATAAATCTGAAGAGGACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGG
R
ATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTAACCGGATCCAGGC
Celera SNP ID:            hCV25757288
SNP Position Transcript:  331
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,35|G,5)   total(A,64|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 81, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5128):
CTCCTGAGTTCACTGCTACTCAGCCTGAGGTTGCAGACTGGTCTGAAGGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAG
Y
GCTCAGCCTGCCACGGAAGACTGGTCTGCAGCTCCCACTGCTCAGGCCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGG
Celera SNP ID:            hCV25760361
SNP Position Transcript:  894
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:968, None



Context             (SEQ ID NO:5129):
CGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAG
M
CACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTAACCGGATCCAGGCAGCCTTCCGGGAGCCACAGCTTCCTGTGGTTACTGACCCCAGGGCT
Celera SNP ID:            hCV25756609
SNP Position Transcript:  377
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,24)   caucasian(A,5|C,35)   total(A,7|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 96, (D,GAC)   (A,GCC)   



Context             (SEQ ID NO:5130):
GATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCATGCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTG
S
AACCTTCACTAACCGGATCCAGGCAGCCTTCCGGGAGCCACAGCTTCCTGTGGTTACTGACCCCAGGGCTGACCACCAGCCTCTCACGGAGGTATCTTAT
Celera SNP ID:            hCV25756545
SNP Position Transcript:  407
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,26)   caucasian(C,5|G,35)   total(C,7|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 106, (A,GCA)   (G,GGA)   



Context             (SEQ ID NO:5131):
CACCAGCCTCTCACGGAGGTATCTTATGTTAACTTACCTACCATTGCGCTGTGTAACACAGATTCTCCTCTGCGCTATGTGGACATTGCCATCCCATGCA
R
CAATAAGGGAGCTCACTCAGTGGGTTGGATGTGGTGGATGCTGGCTCAGGAAGTTCTGCGCATGCGTGGCACCATTTCCCGTGAACACCCATGGGAGGTC
Celera SNP ID:            hCV26292332
SNP Position Transcript:  581
SNP Source:               Celera
Population(Allele,Count): no_pop(G,6|A,6)   total(G,6|A,6) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 164, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:5132):
ACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCCATTGTTGCCATTGAAAACCCTGCTGATGTCAGTGTTATATCCTCCAGGAATACTGGCCAGAGGGCCA
Y
GCTGAAGTTTGCTGCTGCCACTGGAGCCACTCCAATTGCTGGCCACTTCACTCCTGGAACCTTCACTAACCGGATCCAGGCAGCCTTCCGGGAGCCACAG
Celera SNP ID:            hCV25757243
SNP Position Transcript:  350
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(C,5|T,35)   total(C,6|T,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:968, 87, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:5133):
GCTACTCAGCCTGAGGTTGCAGACTGGTCTGAAGGTCTGCAGGTGCCCTCTGTGTCTATTCAGTAGTTCCCTACTGAAGACTGGAGCGCTCAGCCTGCCA
Y
GGAAGACTGGTCTGCAGCTCCCACTGCTCAGGCCACTGAATGGGTAGGAGCAACCACTGAATGGTCTTAAGCTGTTCTTGCATGGGCTCTTAAGCAACAT
Celera SNP ID:            hCV25616524
SNP Position Transcript:  908
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:968, None



Gene Number:                 98
Celera Gene:                 hCG1997182 - 64000127121260
Celera Transcript:           hCT2278586 - 64000127121261
Public Transcript Accession: NM_174912
Celera Protein:              hCP1901132 - 197000069464396
Public Protein Accession:    NP_777572
Gene Symbol:                 FLJ31204
Protein Name:                hypothetical protein FLJ31204
Celera Genomic Axis:         GA_x5YUV32W3E9(4271128..4531012)
Chromosome:                  ChrX
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:272):
ATGGAAGAAGCAACATCTAAGATGACGGAAATTATTTCAGAGCCCACAGTTACACTGGAAAATGAGGGTGCACGTAACCCTCAAGCACTAGGACCGTGCG
GAATCCAGGCTGCGATGGCACCTTCATTTACCGCCCGCATTCAGTTGTTCCTCTTGCGGGCGCTAGGCTTTCTCATAGGCTTAGTAGGCCGAGCAGCTTT
AGTCTTAGGGGGYCCAAAGTTTGCCTCAAAGACCCCTCGGCCGGTGACTGAACCATTGCTTCTGCTTTCGGGGATGCAGCTGGCCAAGCTGATCCGACAG
AGAAAGGTGAAATGTATAGATGTTGTTCAGGCTTATATCAACAGAATCAAGGACGTGAACCCAATGATCAATGGAATTGTCAAGTACAGGTTTGAGGAAG
CGATGAAGGAGGCTCATGCTGTAGATCAAAAGCTTGCAGAGAAGCAGGAAGATGAAGCCACCCTGGAAAATAAATGGCCCTTCCTTGGGGTTCCTTTGAC
AGTCAAGGAAGCTTTCCAGCTACAAGGAATGCCCAATTCTTCTGGACTCATGAACCGTCGTGATGCCATTGCCAAAACAGATGCCACTGTGGTGGCATTA
CTGAAGGGAGCTGGTGCCATTCCTCTTGGCATAACCAACTGTAGTGAGTTGTGTATGTGGTATGAATCCAGTAACAAGATCTATGGCCGATCAAACAACC
CATATGATTTACAGCATATTGTAGGTGGAAGTTCTGGTGGTGAGGGCTGCACACTGGCAGCTGCCTGCTCAGTTATTGGTGTGGGCTCTGATATTGGTGG
TAGCATTCGAATGCCTGCTTTCTTCAATGGTATATTTGGACACAAGCCTTCTCCAGGTGTGGTTCCCAACAAAGGTCAGTTTCCCTTGGCTGTGGGAGCC
CAGGAGTTGTTTCTGTGCACTGGTCCTATGTGCCGYTATGCTGAAGACCTGGCCCCCATGTTGAAGGTCATGGCAGGACCTGGGATCAAAAGGTTAAAAC
TAGACACAAAGGTACATTTAAAAGACTTAAAATTTTACTGGATGGAACATGATGGAGGCTCATTTTTAATGTCCAAAGTGGACCAAGATCTCATTATGAC
TCAGAAAAAGGTTGTGGTTCACCTTGAAACTATTCTAGGAGCCTCAGTTCAACATGTTAAACTGAAGAAAATGAAGTACTCTTTTCAGTTGTGGATCGCA
ATGATGTCAGCAAAGGGACATGATGGGAAGGAACCTGTGAAATTTGTAGATTTGCTTGGTGACCATGGGAAACATGTCAGTCCTCTGTGGGAGTTGATCA
AATGGTGCCTGGGTCTGTCAGTGTACACCATCCCTTCCATTGGACTGGCTTTGTTGGAAGAAAAGCTCAGATATAGCAATGAGAAATACCAAAAGTTTAA
GGCAGTGGAAGAAAGCCTGCGTAAAGAGCTGGTGGATATGCTAGGTGATGATGGTGTGTTCTTATATCCCTCACATCCCACAGTGGCACCTAAGCATCAT
GTCCCTCTAACACGGCCYTTCAACTTTGCTTACACAGGTGTCTTCAGTGCCCTGGGTTTGCCTGTGACCCAATGCCCACTGGGACTGAATGCCAAAGGAC
TCCCTTTAGGCATCCAGGTTGTGGCTGGACCCTTTAATGATCATCTGACCCTGGCTGTGGCCCAGTACTTGGAGAAAACTTTTGGGGGCTGGGTCTGTCC
AGGAAAGTTTTAGGAGGACCTTCTGCAAGGTTAATGTGTGTGTGTGTTTGTGTTCGTGTGGTGGTGTTTCTATTAATTGGGTGAAAYCAAGCACCAGCAG
ACAAGCAGAGAAACAACTGGGGAATTTATTGACTCATTTAGTTATTCTTTCTACTTTTATTTCCTTCTCTAACTGTTGGTCTTACTAAAATGGTAATATT
TGCTTCTTGCTTTTATGTTACTGGAAAATTAGGACATGTAAATGGATAAGTGCAATAAAGTTTCCTAAATGCTG

Protein Sequence    (SEQ ID NO:969):
MEEATSKMTEIISEPTVTLENEGARNPQALGPCGIQAAMAPSFTARIQLFLLRALGFLIGLVGRAALVLGGPKFASKTPRPVTEPLLLLSGMQLAKLIRQ
RKVKCIDVVQAYINRIKDVNPMINGIVKYRFEEAMKEAHAVDQKLAEKQEDEATLENKWPFLGVPLTVKEAFQLQGMPNSSGLMNRRDAIAKTDATVVAL
LKGAGAIPLGITNCSELCMWYESSNKIYGRSNNPYDLQHIVGGSSGGEGCTLAAACSVIGVGSDIGGSIRMPAFFNGIFGHKPSPGVVPNKGQFPLAVGA
QELFLCTGPMCRYAEDLAPMLKVMAGPGIKRLKLDTKVHLKDLKFYWMEHDGGSFLMSKVDQDLIMTQKKVVVHLETILGASVQHVKLKKMKYSFQLWIA
MMSAKGHDGKEPVKFVDLLGDHGKHVSPLWELIKWCLGLSVYTIPSIGLALLEEKLRYSNEKYQKFKAVEESLRKELVDMLGDDGVFLYPSHPTVAPKHH
VPLTRPFNFAYTGVFSALGLPVTQCPLGLNAKGLPLGIQVVAGPFNDHLTLAVAQYLEKTFGGWVCPGKF


SNP Information

Context             (SEQ ID NO:5134):
TTGGACACAAGCCTTCTCCAGGTGTGGTTCCCAACAAAGGTCAGTTTCCCTTGGCTGTGGGAGCCCAGGAGTTGTTTCTGTGCACTGGTCCTATGTGCCG
Y
TATGCTGAAGACCTGGCCCCCATGTTGAAGGTCATGGCAGGACCTGGGATCAAAAGGTTAAAACTAGACACAAAGGTACATTTAAAAGACTTAAAATTTT
Celera SNP ID:            hCV25742993
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,38)   total(C,68|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:969, 312, (R,CGC)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:969, 312, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:5135):
CGATGGCACCTTCATTTACCGCCCGCATTCAGTTGTTCCTCTTGCGGGCGCTAGGCTTTCTCATAGGCTTAGTAGGCCGAGCAGCTTTAGTCTTAGGGGG
Y
CCAAAGTTTGCCTCAAAGACCCCTCGGCCGGTGACTGAACCATTGCTTCTGCTTTCGGGGATGCAGCTGGCCAAGCTGATCCGACAGAGAAAGGTGAAAT
Celera SNP ID:            hCV16026226
SNP Position Transcript:  213
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,9|T,29)   total(C,44|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:969, 71, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:969, 71, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:5136):
TGCGTAAAGAGCTGGTGGATATGCTAGGTGATGATGGTGTGTTCTTATATCCCTCACATCCCACAGTGGCACCTAAGCATCATGTCCCTCTAACACGGCC
Y
TTCAACTTTGCTTACACAGGTGTCTTCAGTGCCCTGGGTTTGCCTGTGACCCAATGCCCACTGGGACTGAATGCCAAAGGACTCCCTTTAGGCATCCAGG
Celera SNP ID:            hCV7468590
SNP Position Transcript:  1518
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:969, 506, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:5137):
GGCTGGGTCTGTCCAGGAAAGTTTTAGGAGGACCTTCTGCAAGGTTAATGTGTGTGTGTGTTTGTGTTCGTGTGGTGGTGTTTCTATTAATTGGGTGAAA
Y
CAAGCACCAGCAGACAAGCAGAGAAACAACTGGGGAATTTATTGACTCATTTAGTTATTCTTTCTACTTTTATTTCCTTCTCTAACTGTTGGTCTTACTA
Celera SNP ID:            hCV3206217
SNP Position Transcript:  1787
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:969, None   



Gene Number:                 98
Celera Gene:                 hCG1997182 - 64000127121260
Celera Transcript:           hCT2278587 - 64000127121277
Public Transcript Accession: NM_174912
Celera Protein:              hCP1901133 - 197000069464397
Public Protein Accession:    NP_777572
Gene Symbol:                 FLJ31204
Protein Name:                hypothetical protein FLJ31204
Celera Genomic Axis:         GA_x5YUV32W3E9(4328869..4531012)
Chromosome:                  ChrX
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:273):
CCCAGGGTGCACGTAACCCTCAAGCACTAGGACCGTGCGGAATCCAGGCTGCGATGGCACCTTCATTTACCGCCCGCATTCAGTTGTTCCTCTTGCGGGC
GCTAGGCTTTCTCATAGGCTTAGTAGGCCGAGCAGCTTTAGTCTTAGGGGGYCCAAAGTTTGCCTCAAAGACCCCTCGGCCGGTGACTGAACCATTGCTT
CTGCTTTCGGGGATGCAGCTGGCCAAGCTGATCCGACAGAGAAAGGTGAAATGTATAGATGTTGTTCAGGCTTATATCAACAGAATCAAGGACGTGAACC
CAATGATCAATGGAATTGTCAAGTACAGGTTTGAGGAAGCGATGAAGGAGGCTCATGCTGTAGATCAAAAGCTTGCAGAGAAGCAGGAAGATGAAGCCAC
CCTGGAAAATAAATGGCCCTTCCTTGGGGTTCCTTTGACAGTCAAGGAAGCTTTCCAGCTACAAGGAATGCCCAATTCTTCTGGACTCATGAACCGTCGT
GATGCCATTGCCAAAACAGATGCCACTGTGGTGGCATTACTGAAGGGAGCTGGTGCCATTCCTCTTGGCATAACCAACTGTAGTGAGTTGTGTATGTGGT
ATGAATCCAGTAACAAGATCTATGGCCGATCAAACAACCCATATGATTTACAGCATATTGTAGGTGGAAGTTCTGGTGGTGAGGGCTGCACACTGGCAGC
TGCCTGCTCAGTTATTGGTGTGGGCTCTGATATTGGTGGTAGCATTCGAATGCCTGCTTTCTTCAATGGTATATTTGGACACAAGCCTTCTCCAGGTGTG
GTTCCCAACAAAGGTCAGTTTCCCTTGGCTGTGGGAGCCCAGGAGTTGTTTCTGTGCACTGGTCCTATGTGCCGYTATGCTGAAGACCTGGCCCCCATGT
TGAAGGTCATGGCAGGACCTGGGATCAAAAGGTTAAAACTAGACACAAAGGTACATTTAAAAGACTTAAAATTTTACTGGATGGAACATGATGGAGGCTC
ATTTTTAATGTCCAAAGTGGACCAAGATCTCATTATGACTCAGAAAAAGGTTGTGGTTCACCTTGAAACTATTCTAGGAGCCTCAGTTCAACATGTTAAA
CTGAAGAAAATGAAGTACTCTTTTCAGTTGTGGATCGCAATGATGTCAGCAAAGGGACATGATGGGAAGGAACCTGTGAAATTTGTAGATTTGCTTGGTG
ACCATGGGAAACATGTCAGTCCTCTGTGGGAGTTGATCAAATGGTGCCTGGGTCTGTCAGTGTACACCATCCCTTCCATTGGACTGGCTTTGTTGGAAGA
AAAGCTCAGATATAGCAATGAGAAATACCAAAAGTTTAAGGCAGTGGAAGAAAGCCTGCGTAAAGAGCTGGTGGATATGCTAGGTGATGATGGTGTGTTC
TTATATCCCTCACATCCCACAGTGGCACCTAAGCATCATGTCCCTCTAACACGGCCYTTCAACTTTGCTTACACAGGTGTCTTCAGTGCCCTGGGTTTGC
CTGTGACCCAATGCCCACTGGGACTGAATGCCAAAGGACTCCCTTTAGGCATCCAGGTTGTGGCTGGACCCTTTAATGATCATCTGACCCTGGCTGTGGC
CCAGTACTTGGAGAAAACTTTTGGGGGCTGGGTCTGTCCAGGAAAGTTTTAGGAGGACCTTCTGCAAGGTTAATGTGTGTGTGTGTTTGTGTTCGTGTGG
TGGTGTTTCTATTAATTGGGTGAAAYCAAGCACCAGCAGACAAGCAGAGAAACAACTGGGGAATTTATTGACTCATTTAGTTATTCTTTCTACTTTTATT
TCCTTCTCTAACTGTTGGTCTTACTAAAATGGTAATATTTGCTTCTTGCTTTTATGTTACTGGAAAATTAGGACATGTAAATGGATAAGTGCAATAAAGT
TTCCTAAATGCTG

Protein Sequence    (SEQ ID NO:970):
MAPSFTARIQLFLLRALGFLIGLVGRAALVLGGPKFASKTPRPVTEPLLLLSGMQLAKLIRQRKVKCIDVVQAYINRIKDVNPMINGIVKYRFEEAMKEA
HAVDQKLAEKQEDEATLENKWPFLGVPLTVKEAFQLQGMPNSSGLMNRRDAIAKTDATVVALLKGAGAIPLGITNCSELCMWYESSNKIYGRSNNPYDLQ
HIVGGSSGGEGCTLAAACSVIGVGSDIGGSIRMPAFFNGIFGHKPSPGVVPNKGQFPLAVGAQELFLCTGPMCRYAEDLAPMLKVMAGPGIKRLKLDTKV
HLKDLKFYWMEHDGGSFLMSKVDQDLIMTQKKVVVHLETILGASVQHVKLKKMKYSFQLWIAMMSAKGHDGKEPVKFVDLLGDHGKHVSPLWELIKWCLG
LSVYTIPSIGLALLEEKLRYSNEKYQKFKAVEESLRKELVDMLGDDGVFLYPSHPTVAPKHHVPLTRPFNFAYTGVFSALGLPVTQCPLGLNAKGLPLGI
QVVAGPFNDHLTLAVAQYLEKTFGGWVCPGKF


SNP Information

Context             (SEQ ID NO:5138):
TTGGACACAAGCCTTCTCCAGGTGTGGTTCCCAACAAAGGTCAGTTTCCCTTGGCTGTGGGAGCCCAGGAGTTGTTTCTGTGCACTGGTCCTATGTGCCG
Y
TATGCTGAAGACCTGGCCCCCATGTTGAAGGTCATGGCAGGACCTGGGATCAAAAGGTTAAAACTAGACACAAAGGTACATTTAAAAGACTTAAAATTTT
Celera SNP ID:            hCV25742993
SNP Position Transcript:  875
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,38)   total(C,68|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:970, 274, (R,CGC)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:970, 274, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:5139):
CGATGGCACCTTCATTTACCGCCCGCATTCAGTTGTTCCTCTTGCGGGCGCTAGGCTTTCTCATAGGCTTAGTAGGCCGAGCAGCTTTAGTCTTAGGGGG
Y
CCAAAGTTTGCCTCAAAGACCCCTCGGCCGGTGACTGAACCATTGCTTCTGCTTTCGGGGATGCAGCTGGCCAAGCTGATCCGACAGAGAAAGGTGAAAT
Celera SNP ID:            hCV16026226
SNP Position Transcript:  152
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,9|T,29)   total(C,44|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:970, 33, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:970, 33, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:5140):
TGCGTAAAGAGCTGGTGGATATGCTAGGTGATGATGGTGTGTTCTTATATCCCTCACATCCCACAGTGGCACCTAAGCATCATGTCCCTCTAACACGGCC
Y
TTCAACTTTGCTTACACAGGTGTCTTCAGTGCCCTGGGTTTGCCTGTGACCCAATGCCCACTGGGACTGAATGCCAAAGGACTCCCTTTAGGCATCCAGG
Celera SNP ID:            hCV7468590
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:970, 468, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:5141):
GGCTGGGTCTGTCCAGGAAAGTTTTAGGAGGACCTTCTGCAAGGTTAATGTGTGTGTGTGTTTGTGTTCGTGTGGTGGTGTTTCTATTAATTGGGTGAAA
Y
CAAGCACCAGCAGACAAGCAGAGAAACAACTGGGGAATTTATTGACTCATTTAGTTATTCTTTCTACTTTTATTTCCTTCTCTAACTGTTGGTCTTACTA
Celera SNP ID:            hCV3206217
SNP Position Transcript:  1726
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,9)      total(C,2|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:970, None   



Gene Number:                 99
Celera Gene:                 hCG2001821 - 102000094664365
Celera Transcript:           hCT2286160 - 102000094664366
Public Transcript Accession: NM_032133
Celera Protein:              hCP1792365 - 197000064925006
Public Protein Accession:    NP_115509
Gene Symbol:                 DKFZp434N1415
Protein Name:                hypothetical protein DKFZp434N1415;AMAP-1
Celera Genomic Axis:         GA_x5YUV32W3KM(12262843..12286017)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:274):
GGCGTCACAGGCCGGGCCCGCAGGGCTTTCTAGGGGTCCGTCGCTCTTGAAGCCGCCGGCGGCGGGCGCGTGCGCGGCCCGATGAAGAAGGAGGTTTCCA
AGCCGTCTCCGCCCAAGTTGATCGGTGGATGCGCGCCCCCGCGCGGGGCACCGGTTGCTGTGGACGCAGTGGCGGCCGTTGGCTGGCGGGTGCGGCGCAG
CCTCGGTGTCTCTGGGCCGGCGGTGCAGGGCAACGTTTCATGGTGCCGGGCGGCACCATGAAGTCTCTAAAGAAGGATTCCCGCCTCAGAATAACTCCGA
CCAGATTATTAGAGGCCTCAGAGAATGTCAAAGAAAAGAAGCGGGCAAAGGGACCTGAACAACCCACACCCACAATTCAGGAAGAGCCTGAACCTGTTAG
CAATGTCCTACAAGGAGATGACATTCTTGCCTTGGCCATTAAGAAGGAAGACTTGAAGGAGCAACACATTCCTCGCCTTACTGAAAAGGAAGATAAACGT
GTCATCACCCAGAAATTTATCATCCGTAAACTCAAACCCATGGATCCTAGGAGGAAGGTCTGCCACCTTGTAGCACGTCCTGCGAATCCTGATGAAGCCA
CAAAGCCTCTGGACTACTCCGGTCCCGGTGACAGCTTCGATGGCAGTGACCAGATCCTGCCCCACCACATCTTGGGGAGTCTCCAGGATTTTAAGAGAAT
TGCACTTGCTCGAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTGATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCC
CCAAAAGAAGASAAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAAACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAG
CCCTCAGCGAACACCTAAAGAAGCCAGTGAGTGAGCTGCTCATGCACACCGGGGAGACCTACAGACGGATCCAGGAGGAGCGGGAGCTCATTGACTGCAC
ACTTCCAACCCGGCGTGATAGGAAAAGCTGGGAGAACAGTGGGTTCTGGAGTCGACTGGAATACTTGGGAGATGAGATGACAGGTCTGGTCRTGACCAAG
ACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCAYATCAGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCAT
ACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACCGACRCAAGGAGCTGCAGAGAATCATGGAAGAGCTGGATTTCAGCCAGCAGGATATTGATGG
CCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACTGTGGAAGACTACACAGTGTTTGAAAGAAGTCAGGGAAGCTCCTCTGAAGACACARCA
TACTTAGGCACATTGGCCAGTTCCTCTGATGTCTCCATGCCTATTCTCGGCCCTTCTCTGCTGTTCTGTGGGAAGCCAGCTTGCTGGATCAGAGGCAGTA
ATCCACAGGACAAGAGGCAGGTTGGGATTGCTGCTCACTTGACCTTTGAAACCCTAGAAGGCGAGAAAACCTCCTCAGAACTGACTGTGGTCAATAATGG
CACCGTGGCCATTTGGTATGACTGGCGACGGCAGCACCAGCCGGACACTTTCCAAGACCTTAAGAAAAACAGGATGCAGCGATTTTACTTTGACAACCGG
GAAGGTGTGATTCTGCCTGGAGAAATTAAAACATTTACCTTCTTCTTCAAGTCTTTGACTGCTGGGGTCTTCAGGGAATTTTGGGAGTTTCGAACCCATC
CTACTCTATTAGGAGGTGCTATACTGCAGGTCAATCTCCACGCGGTCTCCCTGACCCAGGACGTTTTTGAGGATGAGAGGAAAGTACTGGAGAGCAAGCT
GACTGCCCATGAGGCAGTCACCGTCGTTCGCGAAGTGCTGCAGGAGCTGCTGATGGGGGTCTTGACCCCGGAGCGCACACCATCACCTGTGGATGCCTAT
CTCACCGAGGAAGACTTGTTCCGGCACAGAAATCCTCCGCTGCATTATGAGCACCAAGTGGTGCAAAGCCTGCACCAACTGTGGCGCCAGTACATGACCC
TGCCCGCCAAGGCTGAGGAGGCCAGGCCAGGGGACAAGGAGCACGTCAGCCCCATAGCCACAGAGAAGGCCTCTGTGAATGCTGAGCTGTTACCACGCTT
TAGGAGCCCCATCTCCGAAACTCAAGTGCCCCGGCCTGAGAACGAGGCCCTCAGGGAATCCGGGTCCCAGAAGGCCAGAGTGGGGACCAAGAGTCCTCAG
TGGAAGAGCATCATGGAGGAGATCCTGGTGGAGGAAAGCCCAGATGTGGACAGCACCAAGAGCCCCTGGGAGCCGGATGGCCTTCCCCTGCTGGAGTGGA
ACCTCTGCTTGGAGGACTTCAGAAAGGCAGTGATGGTGCTCCCTGATGAGAACCACAGAGAGGATGCGTTGATGAGGCTCAACAAAGCAGCCCTGGAGCT
GTGCCAGAAGCCAAGGCCATTGCAGTCCAACCTCCTGCACCAGATGTGTTTGCAGCTGTGGCGAGATGTGATTGACAGCCTGGTGGGCCATTCCATGTGG
CTGAGGTCTGTGCTGGGCCTGCCTGAGAAGGAGACCATCTATTTGAATGTGCCTGAAGAGCAAGATCAAAAATCACCTCCTATCATGGAAGTGAAGGTAC
CTGTGGGGAAAGCTGGGAAGGAGGAGCGGAAAGGAGCAGCCCAGGAAAAGAAGCAACTGGGGATCAAAGACAAAGAAGACAAGAAAGGAGCCAAGCTGCT
CGRGAAAGAGGACCGTCCCAACAGCAAGAAGCACAAGGCAAAGGATGACAAGAAAGTCATAAAATCTGCAAGTCAGGACAGGTTTTCTTTGGAAGACCCT
ACCCCTGACATCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAGSCTGCACAGTGAGGTCCGTGGGCTGCTGGACA
CCCTGGTGACYGACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAA
CCTTCTGGAAAAYGGGTTAATAAATAAATCAATAAAGAACCTTCAAGTTTCTACTACTTCCGTGTGCCTCTGTGTCTTGC

Protein Sequence    (SEQ ID NO:971):
MRAPARGTGCCGRSGGRWLAGAAQPRCLWAGGAGQRFMVPGGTMKSLKKDSRLRITPTRLLEASENVKEKKRAKGPEQPTPTIQEEPEPVSNVLQGDDIL
ALAIKKEDLKEQHIPRLTEKEDKRVITQKFIIRKLKPMDPRRKVCHLVARPANPDEATKPLDYSGPGDSFDGSDQILPHHILGSLQDFKRIALARGNTQL
AERIPTSPCLMTLISAEGESKQKAPKEEKRPPWAPPPQHNFLKNWQRNTALRKKQQEALSEHLKKPVSELLMHTGETYRRIQEERELIDCTLPTRRDRKS
WENSGFWSRLEYLGDEMTGLVMTKTKTQRGLMEPITHIRKPHSIRVETGLPAQRDASYRYTWDRSLFLIYRRKELQRIMEELDFSQQDIDGLEVVGKGWP
FSAVTVEDYTVFERSQGSSSEDTTYLGTLASSSDVSMPILGPSLLFCGKPACWIRGSNPQDKRQVGIAAHLTFETLEGEKTSSELTVVNNGTVAIWYDWR
RQHQPDTFQDLKKNRMQRFYFDNREGVILPGEIKTFTFFFKSLTAGVFREFWEFRTHPTLLGGAILQVNLHAVSLTQDVFEDERKVLESKLTAHEAVTVV
REVLQELLMGVLTPERTPSPVDAYLTEEDLFRHRNPPLHYEHQVVQSLHQLWRQYMTLPAKAEEARPGDKEHVSPIATEKASVNAELLPRFRSPISETQV
PRPENEALRESGSQKARVGTKSPQWKSIMEEILVEESPDVDSTKSPWEPDGLPLLEWNLCLEDFRKAVMVLPDENHREDALMRLNKAALELCQKPRPLQS
NLLHQMCLQLWRDVIDSLVGHSMWLRSVLGLPEKETIYLNVPEEQDQKSPPIMEVKVPVGKAGKEERKGAAQEKKQLGIKDKEDKKGAKLLGKEDRPNSK
KHKAKDDKKVIKSASQDRFSLEDPTPDIILSSQEPIDPLVMGKYTQRLHSEVRGLLDTLVTDLMVLADELSPIKNVEEALRLCR


SNP Information

Context             (SEQ ID NO:5142):
GTGGGGAAAGCTGGGAAGGAGGAGCGGAAAGGAGCAGCCCAGGAAAAGAAGCAACTGGGGATCAAAGACAAAGAAGACAAGAAAGGAGCCAAGCTGCTCG
R
GAAAGAGGACCGTCCCAACAGCAAGAAGCACAAGGCAAAGGATGACAAGAAAGTCATAAAATCTGCAAGTCAGGACAGGTTTTCTTTGGAAGACCCTACC
Celera SNP ID:            hCV15964064
SNP Position Transcript:  2803
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 892, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:5143):
GAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTGATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCCCCAAAAGAAGA
S
AAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAAACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAGCCCTCAGCGAAC
Celera SNP ID:            hCV29300288
SNP Position Transcript:  812
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 228, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:5144):
ACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAACCTTCTGGAAAA
Y
GGGTTAATAAATAAATCAATAAAGAACCTTCAAGTTTCTACTACTTCCGTGTGCCTCTGTGTCTTGC
Celera SNP ID:            hCV25928556
SNP Position Transcript:  3113
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:971, None



Context             (SEQ ID NO:5145):
AGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCATACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACCGAC
R
CAAGGAGCTGCAGAGAATCATGGAAGAGCTGGATTTCAGCCAGCAGGATATTGATGGCCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACT
Celera SNP ID:            hCV25955376
SNP Position Transcript:  1243
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(G,40)   total(A,4|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 372, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:5146):
TGACTGCACACTTCCAACCCGGCGTGATAGGAAAAGCTGGGAGAACAGTGGGTTCTGGAGTCGACTGGAATACTTGGGAGATGAGATGACAGGTCTGGTC
R
TGACCAAGACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCACATCAGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGA
Celera SNP ID:            hCV25930566
SNP Position Transcript:  1092
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,36)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 322, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:5147):
GTGGGTTCTGGAGTCGACTGGAATACTTGGGAGATGAGATGACAGGTCTGGTCATGACCAAGACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCA
Y
ATCAGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCATACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACC
Celera SNP ID:            hCV25930658
SNP Position Transcript:  1139
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,28|T,6)   total(C,48|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:971, 337, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5148):
CAAGTCAGGACAGGTTTTCTTTGGAAGACCCTACCCCTGACATCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAG
S
CTGCACAGTGAGGTCCGTGGGCTGCTGGACACCCTGGTGACCGACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGC
Celera SNP ID:            hCV7567951
SNP Position Transcript:  2969
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,10|G,30)   total(C,12|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 947, (S,AGC)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 947, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:5149):
TGGCCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACTGTGGAAGACTACACAGTGTTTGAAAGAAGTCAGGGAAGCTCCTCTGAAGACACA
R
CATACTTAGGCACATTGGCCAGTTCCTCTGATGTCTCCATGCCTATTCTCGGCCCTTCTCTGCTGTTCTGTGGGAAGCCAGCTTGCTGGATCAGAGGCAG
Celera SNP ID:            hCV7567928
SNP Position Transcript:  1398
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,29|G,9)   total(A,61|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 424, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:971, 424, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:5150):
TCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAGGCTGCACAGTGAGGTCCGTGGGCTGCTGGACACCCTGGTGAC
Y
GACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAACCTTCTGGAAA
Celera SNP ID:            hCV7567952
SNP Position Transcript:  3011
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,26|T,10)   total(C,59|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:971, 961, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:971, 961, (T,ACC)   (T,ACT)      



Gene Number:                 99
Celera Gene:                 hCG2001821 - 102000094664365
Celera Transcript:           hCT2286164 - 102000094664389
Public Transcript Accession: NM_032133
Celera Protein:              hCP1792366 - 197000064925007
Public Protein Accession:    NP_115509
Gene Symbol:                 DKFZp434N1415
Protein Name:                hypothetical protein DKFZp434N1415;AMAP-1
Celera Genomic Axis:         GA_x5YUV32W3KM(12262843..12285854)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:275):
ACGCAGTGGCGGCCGTTGGCTGGCGGGTGCGGCGCAGCCTCGGTGTCTCTGGGCCGGCGGTGCAGGGCAACGTTTCATGGTGCCGGGCGGCACCATGAAG
TCTCTAAAGAAGGATTCCCGCCTCAGAATAACTCCGACCAGATTATTAGAGGCCTCAGAGAATGTCAAAGAGCCCAGACTGGTCTTGAACTCCTGGGCTC
AAGCGATCTGCCTGCCTTGGCCTCCCAAGATCTTGCAACTCTTAATCCATTCCTTGGCATGCCATTGCCCATGGGAAAAGAAGCGGGCAAAGGGACCTGA
ACAACCCACACCCACAATTCAGGAAGAGCCTGAACCTGTTAGCAATGTCCTACAAGGAGATGACATTCTTGCCTTGGCCATTAAGAAGGAAGACTTGAAG
GAGCAACACATTCCTCGCCTTACTGAAAAGGAAGATAAACGTGTCATCACCCAGAAATTTATCATCCGTAAACTCAAACCCATGGATCCTAGGAGGAAGG
TCTGCCACCTTGTAGCACGTCCTGCGAATCCTGATGAAGCCACAAAGCCTCTGGACTACTCCGGTCCCGGTGACAGCTTCGATGGCAGTGACCAGATCCT
GCCCCACCACATCTTGGGGAGTCTCCAGGATTTTAAGAGAATTGCACTTGCTCGAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTG
ATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCCCCAAAAGAAGASAAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAA
ACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAGCCCTCAGCGAACACCTAAAGAAGCCAGTGAGTGAGCTGCTCATGCACACCGGGGAGAC
CTACAGACGGATCCAGGAGGAGCGGGAGCTCATTGACTGCACACTTCCAACCCGGCGTGATAGGAAAAGCTGGGAGAACAGTGGGTTCTGGAGTCGACTG
GAATACTTGGGAGATGAGATGACAGGTCTGGTCRTGACCAAGACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCAYATCAGGAAGCCCCACTCCA
TCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCATACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACCGACRCAAGGAGCTGCAGAG
AATCATGGAAGAGCTGGATTTCAGCCAGCAGGATATTGATGGCCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACTGTGGAAGACTACACA
GTGTTTGAAAGAAGTCAGGGAAGCTCCTCTGAAGACACARCATACTTAGGCACATTGGCCAGTTCCTCTGATGTCTCCATGCCTATTCTCGGCCCTTCTC
TGCTGTTCTGTGGGAAGCCAGCTTGCTGGATCAGAGGCAGTAATCCACAGGACAAGAGGCAGGTTGGGATTGCTGCTCACTTGACCTTTGAAACCCTAGA
AGGCGAGAAAACCTCCTCAGAACTGACTGTGGTCAATAATGGCACCGTGGCCATTTGGTATGACTGGCGACGGCAGCACCAGCCGGACACTTTCCAAGAC
CTTAAGAAAAACAGGATGCAGCGATTTTACTTTGACAACCGGGAAGGTGTGATTCTGCCTGGAGAAATTAAAACATTTACCTTCTTCTTCAAGTCTTTGA
CTGCTGGGGTCTTCAGGGAATTTTGGGAGTTTCGAACCCATCCTACTCTATTAGGAGGTGCTATACTGCAGGTCAATCTCCACGCGGTCTCCCTGACCCA
GGACGTTTTTGAGGATGAGAGGAAAGTACTGGAGAGCAAGCTGACTGCCCATGAGGCAGTCACCGTCGTTCGCGAAGTGCTGCAGGAGCTGCTGATGGGG
GTCTTGACCCCGGAGCGCACACCATCACCTGTGGATGCCTATCTCACCGAGGAAGACTTGTTCCGGCACAGAAATCCTCCGCTGCATTATGAGCACCAAG
TGGTGCAAAGCCTGCACCAACTGTGGCGCCAGTACATGACCCTGCCCGCCAAGGCTGAGGAGGCCAGGCCAGGGGACAAGGAGCACGTCAGCCCCATAGC
CACAGAGAAGGCCTCTGTGAATGCTGAGCTGTTACCACGCTTTAGGAGCCCCATCTCCGAAACTCAAGTGCCCCGGCCTGAGAACGAGGCCCTCAGGGAA
TCCGGGTCCCAGAAGGCCAGAGTGGGGACCAAGAGTCCTCAGTGGAAGAGCATCATGGAGGAGATCCTGGTGGAGGAAAGCCCAGATGTGGACAGCACCA
AGAGCCCCTGGGAGCCGGATGGCCTTCCCCTGCTGGAGTGGAACCTCTGCTTGGAGGACTTCAGAAAGGCAGTGATGGTGCTCCCTGATGAGAACCACAG
AGAGGATGCGTTGATGAGGCTCAACAAAGCAGCCCTGGAGCTGTGCCAGAAGCCAAGGCCATTGCAGTCCAACCTCCTGCACCAGATGTGTTTGCAGCTG
TGGCGAGATGTGATTGACAGCCTGGTGGGCCATTCCATGTGGCTGAGGTCTGTGCTGGGCCTGCCTGAGAAGGAGACCATCTATTTGAATGTGCCTGAAG
AGCAAGGACCGTCCCAACAGCAAGAAGCACAAGGCAAAGGATGACAAGAAAGTCATAAAATCTGCAAGTCAGGACAGGTTTTCTTTGGAAGACCCTACCC
CTGACATCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAGSCTGCACAGTGAGGTCCGTGGGCTGCTGGACACCCT
GGTGACYGACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAACCTT
CTGGAAAAYGGGTTAATAAATAAATCAATAAAGAACCTTCAAGTTTCTACTACTTCCGTGTGCCTCTGTGTCTTGC

Protein Sequence    (SEQ ID NO:972):
MVPGGTMKSLKKDSRLRITPTRLLEASENVKEPRLVLNSWAQAICLPWPPKILQLLIHSLACHCPWEKKRAKGPEQPTPTIQEEPEPVSNVLQGDDILAL
AIKKEDLKEQHIPRLTEKEDKRVITQKFIIRKLKPMDPRRKVCHLVARPANPDEATKPLDYSGPGDSFDGSDQILPHHILGSLQDFKRIALARGNTQLAE
RIPTSPCLMTLISAEGESKQKAPKEEKRPPWAPPPQHNFLKNWQRNTALRKKQQEALSEHLKKPVSELLMHTGETYRRIQEERELIDCTLPTRRDRKSWE
NSGFWSRLEYLGDEMTGLVMTKTKTQRGLMEPITHIRKPHSIRVETGLPAQRDASYRYTWDRSLFLIYRRKELQRIMEELDFSQQDIDGLEVVGKGWPFS
AVTVEDYTVFERSQGSSSEDTTYLGTLASSSDVSMPILGPSLLFCGKPACWIRGSNPQDKRQVGIAAHLTFETLEGEKTSSELTVVNNGTVAIWYDWRRQ
HQPDTFQDLKKNRMQRFYFDNREGVILPGEIKTFTFFFKSLTAGVFREFWEFRTHPTLLGGAILQVNLHAVSLTQDVFEDERKVLESKLTAHEAVTVVRE
VLQELLMGVLTPERTPSPVDAYLTEEDLFRHRNPPLHYEHQVVQSLHQLWRQYMTLPAKAEEARPGDKEHVSPIATEKASVNAELLPRFRSPISETQVPR
PENEALRESGSQKARVGTKSPQWKSIMEEILVEESPDVDSTKSPWEPDGLPLLEWNLCLEDFRKAVMVLPDENHREDALMRLNKAALELCQKPRPLQSNL
LHQMCLQLWRDVIDSLVGHSMWLRSVLGLPEKETIYLNVPEEQGPSQQQEAQGKG


SNP Information

Context             (SEQ ID NO:5151):
GAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTGATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCCCCAAAAGAAGA
S
AAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAAACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAGCCCTCAGCGAAC
Celera SNP ID:            hCV29300288
SNP Position Transcript:  754
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:972, 226, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:5152):
TGACTGCACACTTCCAACCCGGCGTGATAGGAAAAGCTGGGAGAACAGTGGGTTCTGGAGTCGACTGGAATACTTGGGAGATGAGATGACAGGTCTGGTC
R
TGACCAAGACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCACATCAGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGA
Celera SNP ID:            hCV25930566
SNP Position Transcript:  1034
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,36)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:972, 320, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:5153):
ACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAACCTTCTGGAAAA
Y
GGGTTAATAAATAAATCAATAAAGAACCTTCAAGTTTCTACTACTTCCGTGTGCCTCTGTGTCTTGC
Celera SNP ID:            hCV25928556
SNP Position Transcript:  2909
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:972, None



Context             (SEQ ID NO:5154):
AGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCATACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACCGAC
R
CAAGGAGCTGCAGAGAATCATGGAAGAGCTGGATTTCAGCCAGCAGGATATTGATGGCCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACT
Celera SNP ID:            hCV25955376
SNP Position Transcript:  1185
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(G,40)   total(A,4|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:972, 370, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:5155):
CAAGTCAGGACAGGTTTTCTTTGGAAGACCCTACCCCTGACATCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAG
S
CTGCACAGTGAGGTCCGTGGGCTGCTGGACACCCTGGTGACCGACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGC
Celera SNP ID:            hCV7567951
SNP Position Transcript:  2765
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,10|G,30)   total(C,12|G,66)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:972, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:972, None   



Context             (SEQ ID NO:5156):
GTGGGTTCTGGAGTCGACTGGAATACTTGGGAGATGAGATGACAGGTCTGGTCATGACCAAGACAAAAACTCAGCGTGGCCTCATGGAGCCCATCACTCA
Y
ATCAGGAAGCCCCACTCCATCCGGGTGGAGACAGGATTACCAGCCCAGAGGGACGCTTCATACCGCTACACCTGGGATCGGAGTCTGTTTCTGATCTACC
Celera SNP ID:            hCV25930658
SNP Position Transcript:  1081
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,28|T,6)   total(C,48|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:972, 335, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5157):
TCATCCTCTCTTCTCAAGAACCCATAGACCCCCTGGTCATGGGGAAATACACCCAGAGGCTGCACAGTGAGGTCCGTGGGCTGCTGGACACCCTGGTGAC
Y
GACCTGATGGTCCTGGCTGATGAGCTCAGCCCCATAAAGAATGTCGAGGAGGCTTTGCGCCTCTGCAGGTGACTCTCGGGCCCAAGCAACCTTCTGGAAA
Celera SNP ID:            hCV7567952
SNP Position Transcript:  2807
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,26|T,10)   total(C,59|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:972, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:972, None   



Context             (SEQ ID NO:5158):
TGGCCTGGAGGTGGTGGGCAAAGGGTGGCCCTTCTCGGCTGTTACTGTGGAAGACTACACAGTGTTTGAAAGAAGTCAGGGAAGCTCCTCTGAAGACACA
R
CATACTTAGGCACATTGGCCAGTTCCTCTGATGTCTCCATGCCTATTCTCGGCCCTTCTCTGCTGTTCTGTGGGAAGCCAGCTTGCTGGATCAGAGGCAG
Celera SNP ID:            hCV7567928
SNP Position Transcript:  1340
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,29|G,9)   total(A,61|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:972, 422, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:972, 422, (T,ACA)   (A,GCA)      



Gene Number:                 99
Celera Gene:                 hCG2001821 - 102000094664365
Celera Transcript:           hCT2286162 - 102000094664412
Public Transcript Accession: NM_032133
Celera Protein:              hCP1792363 - 197000064925004
Public Protein Accession:    NP_115509
Gene Symbol:                 DKFZp434N1415
Protein Name:                hypothetical protein DKFZp434N1415;AMAP-1
Celera Genomic Axis:         GA_x5YUV32W3KM(12275709..12286017)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:276):
GGCGTCACAGGCCGGGCCCGCAGGGCTTTCTAGGGGTCCGTCGCTCTTGAAGCCGCCGGCGGCGGGCGCGTGCGCGGCCCGATGAAGAAGGAGGTTTCCA
AGCCGTCTCCGCCCAAGTTGATCGGTGGATGCGCGCCCCCGCGCGGGGCACCGGTTGCTGTGGACGCAGTGGCGGCCGTTGGCTGGCGGGTGCGGCGCAG
CCTCGGTGTCTCTGGGCCGGCGGTGCAGGGCAACGTTTCATGGTGCCGGGCGGCACCATGAAGTCTCTAAAGAAGGATTCCCGCCTCAGAATAACTCCGA
CCAGATTATTAGAGGCCTCAGAGAATGTCAAAGAAAAGAAGCGGGCAAAGGGACCTGAACAACCCACACCCACAATTCAGGAAGAGCCTGAACCTGTTAG
CAATGTCCTACAAGGAGATGACATTCTTGCCTTGGCCATTAAGAAGGAAGACTTGAAGGAGCAACACATTCCTCGCCTTACTGAAAAGGAAGATAAACGT
GTCATCACCCAGAAATTTATCATCCGTAAACTCAAACCCATGGATCCTAGGAGGAAGGTCTGCCACCTTGTAGCACGTCCTGCGAATCCTGATGAAGCCA
CAAAGCCTCTGGACTACTCCGGTCCCGGTGACAGCTTCGATGGCAGTGACCAGATCCTGCCCCACCACATCTTGGGGAGTCTCCAGGATTTTAAGAGAAT
TGCACTTGCTCGAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTGATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCC
CCAAAAGAAGASAAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAAACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAG
CCCTCAGCG

Protein Sequence    (SEQ ID NO:973):
MRAPARGTGCCGRSGGRWLAGAAQPRCLWAGGAGQRFMVPGGTMKSLKKDSRLRITPTRLLEASENVKEKKRAKGPEQPTPTIQEEPEPVSNVLQGDDIL
ALAIKKEDLKEQHIPRLTEKEDKRVITQKFIIRKLKPMDPRRKVCHLVARPANPDEATKPLDYSGPGDSFDGSDQILPHHILGSLQDFKRIALARGNTQL
AERIPTSPCLMTLISAEGESKQKAPKEEKRPPWAPPPQHNFLKNWQRNTALRKKQQEALSX


SNP Information

Context             (SEQ ID NO:5159):
GAGGGAACACCCAGCTGGCTGAGCGGATACCTACCTCACCCTGTCTGATGACCCTCATCTCTGCTGAAGGAGAGTCAAAGCAAAAAGCCCCAAAAGAAGA
S
AAGAGACCTCCCTGGGCCCCACCTCCTCAGCACAACTTTCTGAAAAACTGGCAGCGTAACACAGCCCTGCGGAAGAAGCAGCAGGAAGCCCTCAGCG
Celera SNP ID:            hCV29300288
SNP Position Transcript:  812
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:973, 228, (D,GAC)   (E,GAG)      



Gene Number:                 100
Celera Gene:                 hCG2002731 - 30000035344896
Celera Transcript:           hCT2287791 - 30000035344905
Public Transcript Accession: 
Celera Protein:              hCP1814041 - 207000006194759
Public Protein Accession:    
Gene Symbol:                 PELO
Protein Name:                pelota homolog (Drosophila);CD49a;CGI-17;PRO1770;VLA1
Celera Genomic Axis:         GA_x5YUV32VT8U(2652685..2667388)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:277):
ACCCGCCTTCCTACCACCTTAGGGGATTTGGCCCGGAGAACGAGATCACCCTCTCAATGAAAGGCAGATGTCCCTTTAAGGTTTGCTTCTACAGCCCGTG
GACTTTAGCCTAAACACGGACCCGCGAAGCTGGCTTTATTTGTCCATGTCTCGGACAGAGCCTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGC
GAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGGMATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTC
CTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAGCCAGAGAGCGCAGCTCCCGCGCCCGGTCCTGCCCTGCG
AACCAGCGCGGCCCCCTGGCGCTGAGGCTGCTCCGGCCATGGCCCCTCGGCCCCGCGCCCGCCCAGGGGTCGCTGTCGCCTGCTGCTGGCTCCTCACTGG
GATGGAAGAGAAAACTTAGGAAGTTGAAGTTTGGCATTAAAATAAAGGACTCGCCACCACTCTGTGCACCTTCTTGAGGGAGTTCATTCGTCCGGAGCGC
CTCACAGCTTAGTRCGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGC
GCCTTCATTTMGTCAGCCCRCTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGCGCGC
CGGGAGACTGAGAGAGGAAAGGATAGAGGAAGTGCTGCCCTAGGCTGCATGAGTCGAAGCAAGCGTGTTTCCTTCCCGCCAGGCAAGTGCCCTTAGAAAC
CGGGCCCCGCCCCCTTCCTGGCCTGCATTCCCATCCCCTCTCCCGGGGCGGAGGTGAGGACCTCCTTGGTTCCTTTGGTTCTGTCAGTGAGCCCCTTCCT
TGGCCATGAAGCTCGTGAGGAAGAACATCGAGAAGGACAATGCGGGCCAGGTGACCCTGGTCCCCGAGGAGCCTGAGGACATGTGGCACACTTACAACCT
CGTGCAGGTGGGCGACAGCCTGCGCGCCTCCACCATCCGCAAGGTACAGACAGAGTCCTCCACGGGCAGCGTGGGCAGCAACCGGGTCCGCACTACCCTC
ACTCTCTGCGTGGAGGCCATCGACTTCGACTCTCAAGCCTGCCAGCTGCGGGTTAAGGGGACCAACATCCAAGAGAATGAGTATGTCAAGATGGGGGCTT
ACCACACCATCGAGCTGGAGCCCAACCGCCAGTTCACCCTGGCCAAGAAGCAGTGGGATAGTGTGGTACTGGAGCGCATCGAGCAGGCCTGTGACCCAGC
CTGGAGCGCTGATGTGGCGGCTGTGGTCATGCAGGAAGGCCTCGCCCATATCTGCTTAGTCACTCCCAGCATGACCCTCACTCGGGCCAAGGTGGAGGTG
AACATCCCTAGGAAAAGGAAAGGCAATTGCTCTCAGCATGACCGGGCCTTGGAGCGGTTCTATGAACAGGTGGTCCAGGCTATCCAGCGCCACATACACT
TTGATGTTGTAAAGTGCATCCTGGTGGCCAGCCCAGGATTTGTGAGGGAGCAGTTCTGCGACTACMTGTTTCAACAAGCAGTGAAGACCGACAACAAACT
GCTCCTGGAAAACCGGTCCAAATTTCTTCAGGTACATGCCTCCTCCGGACACAAGTACTCCCTGAAAGAGGCCCTTTGTGACCCTACTGTGGCTAGCCGC
CTTTCAGACACTAAAGCTGCTGGGGAAGTCAAAGCCTTGGATGACTTCTATAAAATGTTACAGCATGAACCGGATCGAGCTTTCTATGGACTCAAGCAGG
TGGAGAAGGCCAATGAAGCCATGGCAATTGACACATTGCTCATCAGCGATGAGCTCTTCAGGCATCAGGATGTAGCCACACGGAGCCGGTATGTGAGGCT
GGTGGACAGTGTGAAAGAGAATGCAGGCACCGTTAGGATATTCTCTAGTCTTCACGTTTCTGGGGAACAGCTCAGCCAGTTGACTGGGGTAGCTGCCATT
CTCCGCTTCCCTGTTCCCGAACTTTCTGACCAAGAGGGTGATTCCAGTTCTGAAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGTTTCC
TAAACWGTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAAKGGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTACACT
AGATATTTTGTGATTGGCAAGACATGTATTTAAACAATAAACTAAAAGGAAATAATCTCCACGTACTACCATCTTGATTAAATTGTGTAATTTTTTATAG
GAATTATGAGTTATCTGTAGTACTTGGAAACAGAAAATGTGTGTATTTAAAGACGATGCCTATGCAGTATATTGTTTGGGATAGATTGCAAAATTTCACA
CTGCATGCTTTGAAACAGTTTTCCTTAGAAAAAGCTTTTGCTATCTTATCCTGTTTACATTATTTCTTTATTTTAATTCTGCTTGGTGTTCTTGCATTGC
ATTTAATGATCCCTTTTCTCCCCACCTCCACACACTACATTTTTTTTAGATTTAAATAGTTTTACTATTTTAAATGATTGCCGTACAATTAGTAGACTTG
AAGACAAGTTTTAAATATTTTTCTTCAAAGGCTTGTTAAACCAATCATGTWAAAAGGAAATTCTTGGTTTTGGTTTGTTGTTGTTAGCATTAGTCATATT
TGATTTAGAGGGTAACTTAAATCAGTTATTTTTAGCTTTTTAGAACTTTGATCTGCTAGGGATTGTCAAAATAATCTCCTTGAGGCATCTTTATTTTTAA
AATGAGATTAAAGTATGTKATTTGCTTGTTATGTGGCT

Protein Sequence    (SEQ ID NO:974):
MKLVRKNIEKDNAGQVTLVPEEPEDMWHTYNLVQVGDSLRASTIRKVQTESSTGSVGSNRVRTTLTLCVEAIDFDSQACQLRVKGTNIQENEYVKMGAYH
TIELEPNRQFTLAKKQWDSVVLERIEQACDPAWSADVAAVVMQEGLAHICLVTPSMTLTRAKVEVNIPRKRKGNCSQHDRALERFYEQVVQAIQRHIHFD
VVKCILVASPGFVREQFCDYMFQQAVKTDNKLLLENRSKFLQVHASSGHKYSLKEALCDPTVASRLSDTKAAGEVKALDDFYKMLQHEPDRAFYGLKQVE
KANEAMAIDTLLISDELFRHQDVATRSRYVRLVDSVKENAGTVRIFSSLHVSGEQLSQLTGVAAILRFPVPELSDQEGDSSSEED


SNP Information

Context             (SEQ ID NO:5160):
ACTTAGGAAGTTGAAGTTTGGCATTAAAATAAAGGACTCGCCACCACTCTGTGCACCTTCTTGAGGGAGTTCATTCGTCCGGAGCGCCTCACAGCTTAGT
R
CGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTTCGTC
Celera SNP ID:            hCV27835894
SNP Position Transcript:  614
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   caucasian(G,38)   total(A,2|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:974, None



Context             (SEQ ID NO:5161):
AAATCAGTTATTTTTAGCTTTTTAGAACTTTGATCTGCTAGGGATTGTCAAAATAATCTCCTTGAGGCATCTTTATTTTTAAAATGAGATTAAAGTATGT
K
ATTTGCTTGTTATGTGGCT
Celera SNP ID:            hCV28984133
SNP Position Transcript:  2919
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:974, None   



Context             (SEQ ID NO:5162):
CTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGCGAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGG
M
ATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTCCTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAG
Celera SNP ID:            hCV15958460
SNP Position Transcript:  262
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,8)      total(A,1|C,8) ;JBIC-allele(A,465|C,1038)   total(A,465|C,1038)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:974, None   



Context             (SEQ ID NO:5163):
AAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGTTTCCTAAACTGTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAA
K
GGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTACACTAGATATTTTGTGATTGGCAAGACATGTATTTAAACAATAAACTAAAAGGAAAT
Celera SNP ID:            hCV1420142
SNP Position Transcript:  2253
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|T,7)      total(G,1|T,7) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:974, None   



Context             (SEQ ID NO:5164):
TTTAAATAGTTTTACTATTTTAAATGATTGCCGTACAATTAGTAGACTTGAAGACAAGTTTTAAATATTTTTCTTCAAAGGCTTGTTAAACCAATCATGT
W
AAAAGGAAATTCTTGGTTTTGGTTTGTTGTTGTTAGCATTAGTCATATTTGATTTAGAGGGTAACTTAAATCAGTTATTTTTAGCTTTTTAGAACTTTGA
Celera SNP ID:            hCV28984134
SNP Position Transcript:  2751
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:974, None   



Context             (SEQ ID NO:5165):
GCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTTCGTCAGCCC
R
CTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGCGCGCCGGGAGACTGAGAGAGGAAA
Celera SNP ID:            hCV27831897
SNP Position Transcript:  720
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,2|G,38)   total(A,3|G,57)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:974, None



Context             (SEQ ID NO:5166):
AGTGCGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTT
M
GTCAGCCCGCTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGCGCGCCGGGAGACTGA
Celera SNP ID:            hCV27841549
SNP Position Transcript:  711
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(A,6|C,34)   total(A,6|C,54)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:974, None



Context             (SEQ ID NO:5167):
CTTCCCTGTTCCCGAACTTTCTGACCAAGAGGGTGATTCCAGTTCTGAAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGTTTCCTAAAC
W
GTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAATGGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTACACTAGATAT
Celera SNP ID:            hCV25993210
SNP Position Transcript:  2206
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,35)   caucasian(T,18)   total(A,1|T,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:974, None



Context             (SEQ ID NO:5168):
ACAGGTGGTCCAGGCTATCCAGCGCCACATACACTTTGATGTTGTAAAGTGCATCCTGGTGGCCAGCCCAGGATTTGTGAGGGAGCAGTTCTGCGACTAC
M
TGTTTCAACAAGCAGTGAAGACCGACAACAAACTGCTCCTGGAAAACCGGTCCAAATTTCTTCAGGTACATGCCTCCTCCGGACACAAGTACTCCCTGAA
Celera SNP ID:            hCV8884653
SNP Position Transcript:  1666
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,11|C,1)   total(A,36|C,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:974, 221, (M,ATG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,24|C,2)   total(A,55|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:974, 221, (M,ATG)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(C,-|A,-)   JBIC-allele(C,240|A,1257)   total(A,1257|C,240)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:974, 221, (M,ATG)   (L,CTG)      221, (L,CTG)   (M,ATG)      



Gene Number:                 100
Celera Gene:                 hCG2002731 - 30000035344896
Celera Transcript:           hCT2287789 - 30000035344897
Public Transcript Accession: 
Celera Protein:              hCP1814040 - 207000006194756
Public Protein Accession:    
Gene Symbol:                 PELO
Protein Name:                pelota homolog (Drosophila);CD49a;CGI-17;PRO1770;VLA1
Celera Genomic Axis:         GA_x5YUV32VT8U(2652685..2667388)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:278):
ACCCGCCTTCCTACCACCTTAGGGGATTTGGCCCGGAGAACGAGATCACCCTCTCAATGAAAGGCAGATGTCCCTTTAAGGTTTGCTTCTACAGCCCGTG
GACTTTAGCCTAAACACGGACCCGCGAAGCTGGCTTTATTTGTCCATGTCTCGGACAGAGCCTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGC
GAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGGMATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTC
CTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAGCCAGAGAGCGCAGCTCCCGCGCCCGGTCCTGCCCTGCG
AACCAGCGCGGCCCCCTGGCGCTGAGGCTGCTCCGGCCATGGCCCCTCGGCCCCGCGCCCGCCCAGGGGTCGCTGTCGCCTGCTGCTGGCTCCTCACTGA
CAGGGATGGAAGAGAAAACTTAGGAAGTTGAAGTTTGGCATTAAAATAAAGGACTCGCCACCACTCTGTGCACCTTCTTGAGGGAGTTCATTCGTCCGGA
GCGCCTCACAGCTTAGTRCGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGC
ATGCGCCTTCATTTMGTCAGCCCRCTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGC
GCGCCGGGAGACTGAGAGAGGAAAGGATAGAGGAAGTGCTGCCCTAGGCTGCATGAGTCGAAGCAAGCGTGTTTCCTTCCCGCCAGGCAAGTGCCCTTAG
AAACCGGGCCCCGCCCCCTTCCTGGCCTGCATTCCCATCCCCTCTCCCGGGGCGGAGGTGAGGACCTCCTTGGTTCCTTTGGTTCTGTCAGTGAGCCCCT
TCCTTGGCCATGAAGCTCGTGAGGAAGAACATCGAGAAGGACAATGCGGGCCAGGTGACCCTGGTCCCCGAGGAGCCTGAGGACATGTGGCACACTTACA
ACCTCGTGCAGGTGGGCGACAGCCTGCGCGCCTCCACCATCCGCAAGGTACAGACAGAGTCCTCCACGGGCAGCGTGGGCAGCAACCGGGTCCGCACTAC
CCTCACTCTCTGCGTGGAGGCCATCGACTTCGACTCTCAAGCCTGCCAGCTGCGGGTTAAGGGGACCAACATCCAAGAGAATGAGTATGTCAAGATGGGG
GCTTACCACACCATCGAGCTGGAGCCCAACCGCCAGTTCACCCTGGCCAAGAAGCAGTGGGATAGTGTGGTACTGGAGCGCATCGAGCAGGCCTGTGACC
CAGCCTGGAGCGCTGATGTGGCGGCTGTGGTCATGCAGGAAGGCCTCGCCCATATCTGCTTAGTCACTCCCAGCATGACCCTCACTCGGGCCAAGGTGGA
GGTGAACATCCCTAGGAAAAGGAAAGGCAATTGCTCTCAGCATGACCGGGCCTTGGAGCGGTTCTATGAACAGGTGGTCCAGGCTATCCAGCGCCACATA
CACTTTGATGTTGTAAAGTGCATCCTGGTGGCCAGCCCAGGATTTGTGAGGGAGCAGTTCTGCGACTACMTGTTTCAACAAGCAGTGAAGACCGACAACA
AACTGCTCCTGGAAAACCGGTCCAAATTTCTTCAGGTACATGCCTCCTCCGGACACAAGTACTCCCTGAAAGAGGCCCTTTGTGACCCTACTGTGGCTAG
CCGCCTTTCAGACACTAAAGCTGCTGGGGAAGTCAAAGCCTTGGATGACTTCTATAAAATGTTACAGCATGAACCGGATCGAGCTTTCTATGGACTCAAG
CAGGTGGAGAAGGCCAATGAAGCCATGGCAATTGACACATTGCTCATCAGCGATGAGCTCTTCAGGCATCAGGATGTAGCCACACGGAGCCGGTATGTGA
GGCTGGTGGACAGTGTGAAAGAGAATGCAGGCACCGTTAGGATATTCTCTAGTCTTCACGTTTCTGGGGAACAGCTCAGCCAGTTGACTGGGGTAGCTGC
CATTCTCCGCTTCCCTGTTCCCGAACTTTCTGACCAAGAGGGTGATTCCAGTTCTGAAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGT
TTCCTAAACWGTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAAKGGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTA
CACTAGATATTTTGTGATTGGCAAGACATGTATTTAAACAATAAACTAAAAGGAAATAATCTCCACGTACTACCATCTTGATTAAATTGTGTAATTTTTT
ATAGGAATTATGAGTTATCTGTAGTACTTGGAAACAGAAAATGTGTGTATTTAAAGACGATGCCTATGCAGTATATTGTTTGGGATAGATTGCAAAATTT
CACACTGCATGCTTTGAAACAGTTTTCCTTAGAAAAAGCTTTTGCTATCTTATCCTGTTTACATTATTTCTTTATTTTAATTCTGCTTGGTGTTCTTGCA
TTGCATTTAATGATCCCTTTTCTCCCCACCTCCACACACTACATTTTTTTTAGATTTAAATAGTTTTACTATTTTAAATGATTGCCGTACAATTAGTAGA
CTTGAAGACAAGTTTTAAATATTTTTCTTCAAAGGCTTGTTAAACCAATCATGTWAAAAGGAAATTCTTGGTTTTGGTTTGTTGTTGTTAGCATTAGTCA
TATTTGATTTAGAGGGTAACTTAAATCAGTTATTTTTAGCTTTTTAGAACTTTGATCTGCTAGGGATTGTCAAAATAATCTCCTTGAGGCATCTTTATTT
TTAAAATGAGATTAAAGTATGTKATTTGCTTGTTATGTGGCT

Protein Sequence    (SEQ ID NO:975):
MKLVRKNIEKDNAGQVTLVPEEPEDMWHTYNLVQVGDSLRASTIRKVQTESSTGSVGSNRVRTTLTLCVEAIDFDSQACQLRVKGTNIQENEYVKMGAYH
TIELEPNRQFTLAKKQWDSVVLERIEQACDPAWSADVAAVVMQEGLAHICLVTPSMTLTRAKVEVNIPRKRKGNCSQHDRALERFYEQVVQAIQRHIHFD
VVKCILVASPGFVREQFCDYMFQQAVKTDNKLLLENRSKFLQVHASSGHKYSLKEALCDPTVASRLSDTKAAGEVKALDDFYKMLQHEPDRAFYGLKQVE
KANEAMAIDTLLISDELFRHQDVATRSRYVRLVDSVKENAGTVRIFSSLHVSGEQLSQLTGVAAILRFPVPELSDQEGDSSSEED


SNP Information

Context             (SEQ ID NO:5169):
ACTTAGGAAGTTGAAGTTTGGCATTAAAATAAAGGACTCGCCACCACTCTGTGCACCTTCTTGAGGGAGTTCATTCGTCCGGAGCGCCTCACAGCTTAGT
R
CGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTTCGTC
Celera SNP ID:            hCV27835894
SNP Position Transcript:  618
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   caucasian(G,38)   total(A,2|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:975, None



Context             (SEQ ID NO:5170):
AAATCAGTTATTTTTAGCTTTTTAGAACTTTGATCTGCTAGGGATTGTCAAAATAATCTCCTTGAGGCATCTTTATTTTTAAAATGAGATTAAAGTATGT
K
ATTTGCTTGTTATGTGGCT
Celera SNP ID:            hCV28984133
SNP Position Transcript:  2923
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:975, None   



Context             (SEQ ID NO:5171):
CTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGCGAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGG
M
ATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTCCTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAG
Celera SNP ID:            hCV15958460
SNP Position Transcript:  262
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,8)      total(A,1|C,8) ;JBIC-allele(A,465|C,1038)   total(A,465|C,1038)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:975, None   



Context             (SEQ ID NO:5172):
AAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGTTTCCTAAACTGTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAA
K
GGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTACACTAGATATTTTGTGATTGGCAAGACATGTATTTAAACAATAAACTAAAAGGAAAT
Celera SNP ID:            hCV1420142
SNP Position Transcript:  2257
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|T,7)      total(G,1|T,7) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:975, None   



Context             (SEQ ID NO:5173):
TTTAAATAGTTTTACTATTTTAAATGATTGCCGTACAATTAGTAGACTTGAAGACAAGTTTTAAATATTTTTCTTCAAAGGCTTGTTAAACCAATCATGT
W
AAAAGGAAATTCTTGGTTTTGGTTTGTTGTTGTTAGCATTAGTCATATTTGATTTAGAGGGTAACTTAAATCAGTTATTTTTAGCTTTTTAGAACTTTGA
Celera SNP ID:            hCV28984134
SNP Position Transcript:  2755
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:975, None   



Context             (SEQ ID NO:5174):
GCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTTCGTCAGCCC
R
CTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGCGCGCCGGGAGACTGAGAGAGGAAA
Celera SNP ID:            hCV27831897
SNP Position Transcript:  724
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,2|G,38)   total(A,3|G,57)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:975, None



Context             (SEQ ID NO:5175):
AGTGCGCCTGCGCACGCGCGAACTGCGGCCCCGCCTCTCCTTTGGGGACGGGAGACGTGCGTCGGGTCGCGGGACGGGGGCTGCGCATGCGCCTTCATTT
M
GTCAGCCCGCTGTTGCGTGCTGCCAGCGGGAACTGTGTAGGGGTAGATTTTCGCTGCAGTGTTCCCCGAGCCTGTTAGACGCAGCGCGCCGGGAGACTGA
Celera SNP ID:            hCV27841549
SNP Position Transcript:  715
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(A,6|C,34)   total(A,6|C,54)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:975, None



Context             (SEQ ID NO:5176):
CTTCCCTGTTCCCGAACTTTCTGACCAAGAGGGTGATTCCAGTTCTGAAGAGGATTAATGATTGAAACTTAAAATTGAGACAATCTTGTGTTTCCTAAAC
W
GTTACAGTACATTTCTCAGCATCCTTGTGACAGAAAGCTGCAAGAATGGCACTTTTTGATTCATACAGGGATTTCTTATGTCTTTGGCTACACTAGATAT
Celera SNP ID:            hCV25993210
SNP Position Transcript:  2210
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,35)   caucasian(T,18)   total(A,1|T,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:975, None



Context             (SEQ ID NO:5177):
ACAGGTGGTCCAGGCTATCCAGCGCCACATACACTTTGATGTTGTAAAGTGCATCCTGGTGGCCAGCCCAGGATTTGTGAGGGAGCAGTTCTGCGACTAC
M
TGTTTCAACAAGCAGTGAAGACCGACAACAAACTGCTCCTGGAAAACCGGTCCAAATTTCTTCAGGTACATGCCTCCTCCGGACACAAGTACTCCCTGAA
Celera SNP ID:            hCV8884653
SNP Position Transcript:  1670
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,11|C,1)   total(A,36|C,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:975, 221, (M,ATG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,1)   caucasian(A,24|C,2)   total(A,55|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:975, 221, (M,ATG)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(C,-|A,-)   JBIC-allele(C,240|A,1257)   total(A,1257|C,240)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:975, 221, (M,ATG)   (L,CTG)      221, (L,CTG)   (M,ATG)      



Gene Number:                 100
Celera Gene:                 hCG2002731 - 30000035344896
Celera Transcript:           hCT2287790 - 30000035344903
Public Transcript Accession: 
Celera Protein:              hCP1814042 - 207000006194753
Public Protein Accession:    
Gene Symbol:                 PELO
Protein Name:                pelota homolog (Drosophila);CD49a;CGI-17;PRO1770;VLA1
Celera Genomic Axis:         GA_x5YUV32VT8U(2652685..2824019)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:279):
ACCCGCCTTCCTACCACCTTAGGGGATTTGGCCCGGAGAACGAGATCACCCTCTCAATGAAAGGCAGATGTCCCTTTAAGGTTTGCTTCTACAGCCCGTG
GACTTTAGCCTAAACACGGACCCGCGAAGCTGGCTTTATTTGTCCATGTCTCGGACAGAGCCTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGC
GAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGGMATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTC
CTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAGCCAGAGAGCGCAGCTCCCGCGCCCGGTCCTGCCCTGCG
AACCAGCGCGGCCCCCTGGCGCTGAGGCTGCTCCGGCCATGGCCCCTCGGCCCCGCGCCCGCCCAGGGGTCGCTGTCGCCTGCTGCTGGCTCCTCACTGT
TGTTCTACGCTGCTGCGTATCATTCAATGTTGATGTGAAAAATTCAATGACTTTCAGCGGCCCGGTGGAAGACATGTTTGGATATACTGTTCAACAATAT
GAAAATGAAGAAGGAAAATGGGTGCTTATTGGTTCTCCGTTAGTTGGCCAACCCAAAAACAGAACTGGAGATGTCTATAAGTGTCCAGTTGGGAGAGGTG
AATCATTACCTTGYGTAAAGTTGGATCTACCAGTTAATACATCAATTCCCAATGTCACAGAAGTAAAGGAGAACATGACATTTGGATCAACTTTAGTCAC
CAACCCAAATGGAGGATTTCTGGCTTGTGGGCCCTTATATGCCTATAGATGTGGACATTTGCATTACACAACTGGAATCTGTTCTGACGTCAGCCCCACA
TTTCAAGTCGTGAATTCCATTGCCCCTGTACAAGAATGCAGCACTCAACTGGACATAGTCATAGTGCTGGATGGTTCCAACAGTATTTACCCATGGGACA
GTGTTACAGCTTTTTTAAATGACCTTCTTGAAAGAATGGATATTGGTCCTAAACAGACACAGGTTGGAATTGTACAGTATGGAGAAAACGTGACCCATGA
RTTCAACCTCAATAAGTATTCTTCCACCGAAGAGGTACTTGTTGCAGCAAAGAAAATAGTCCAGAGAGGTGGCCGCCAGACTATGACAGCTCTTGGAATA
GACACAGCAAGAAAGGAGGCATTCACGGAAGCCCGGGGTGCCCGAAGAGGAGTTAAAAAAGTCATGGTTATTGTGACAGATGGAGAGTCTCATGACAATC
ATCGACTGAAGAAGGTCATCCAAGACTGTGAAGATGAAAACATTCAACGGTTTTCCATAGCTATTCTTGGCAGCTATAACCGAGGAAATTTAAGCACTGA
AAAATTTGTGGAGGAAATAAAATCAATTGCAAGTGAACCCACTGAAAAGCATTTCTTCAATGTCTCTGATGAATTGGCTCTAGTCACCATTGTTAAAACT
CTGGGAGAAAGAATATTTGCCCTGGAAGCYACAGCTGACCAGTCAGCAGCTTCATTTGAAATGGAAATGTCTCAGACTGGCTTCAGTGCTCATTATTCAC
AGGACTGGGTCATGCTTGGAGCAGTAGGAGCCTATGATTGGAATGGAACAGTTGTCATGCAGAAGGCTAGTCAAATCATAATCCCTCGAAACACAACCTT
TAATGTTGAGTCTACCAAAAAGAATGAACCGCTTGCTTCTTATTTAGGTTACACTGTAAACTCTGCTACTGCTTCTTCTGGAGATGTGCTCTATATTGCT
GGACAGCCTCGGTACAATCATACAGGCCAGGTCATTATCTACAGGATGGAAGATGGAAACATCAAAATTCTCCAGAYGCTCAGTGGAGAACAGATTGGTT
CCTACTTTGGCAGTATTTTAACAACAACTGACATTGACAAGGATTCTAATACTGACATTCTTCTAGTCGGAGCCCCTATGTACATGGGAACAGAGAAGGA
GGAGCAAGGAAAAGTGTATGTGTATGCTCTCAATCAGACAAGGTTTGAATATCAAATGAGCCTGGAACCTATTAAGCAGACGTGCTGTTCATCTCGGCAG
CACAATTCATGCACAACAGAAAACAAAAATGAGCCATGCGGGGCTCGTTTTGGAACTGCAATTGCTGCTGTAAAAGACCTCAATCTTGATGGATTTAATG
ACATCGTGATAGGAGCTCCGCTGGAAGATGATCACGGGGGAGCTGTGTACATTTATCATGGAAGTGGCAAGACTATAAGGAAAGAGTATGCACAACGTAT
TCCATCAGGTGGGGATGGTAAGACACTGAAATTTTTTGGCCAGTCTATCCACGGAGAAATGGATTTAAATGGTGACGGTCTGACAGATGTGACTATTGGG
GGCCTTGGTGGTGCTGCCCTCTTCTGGTCCCGAGATGTGGCCGTARTTAAAGTGACCATGAATTTTGAGCCAAATAAAGTGAATATTCAAAAGAAAAACT
GCCATATGGAGGGAAAGGAAACAGTATGCATAAATGCTACAGTGTGTTTTGATGTGAAATTAAAGTCTAAAGAAGACACGATTTATGAAGCTGATTTGCA
GTACCGTGTCACCCTAGATTCACTAAGACAAATATCACGAAGTTTTTTCTCTGGAACTCAAGAGAGAARGGTTCAAAGGAACATCACAGTTCGAAAATCA
GAATGCACTAAGCACTCCTTCTACATGTTGCATGACTTTCAGGACTCTGTGAGAATAACGTTGGACTTTAATCTTACCGATCCAGAAAATGGGCCTGTTC
TTGATGATTCTYTACCAAACTCAGTACATGAATATATTCCCTTTGCCAAAGATTGTGGAAATAAGGAAAAATGTATCTCAGACCTCAGCCTGCATGTCGC
CACCACTGAAAAGGACCTGCTGATTGTCCGATCCCAGAATGATAAGTTCAACGTTAGCCTCACAGTCAAAAATACAAAGGACAGTGCCTATAACACCAGG
ACAATAGTGCATTATTCTCCAAATCTAGTTTTTTCAGGAATTGAGGCTATCCAAAAAGACAGTTGTGAATCTAATCATAATATCACATGTAAAGTTGGAT
ATCCCTTCCTGAGAAGAGGAGAGATGGTAACTTTCAAAATATTGTTTCAGTTTAACACATCCTATCTCATGGAAAATGTGACCATTTATTTAAGTGCAAC
AAGTGACAGCGAAGAACCTCCTGAAACCCTTTCTGATAATGTAGTAAACATTTCTATCCCGGTAAAATATGAAGTTGGACTACAGTTTTACAGCTCTGCA
AGTGAATACCACATKTCAATTGCTGCCAATGAGACAGTCCCTGAAGTTATTAATTCTACTGAGGACATTGGAAATGAAATTAATATCTTCTACTTGATTA
GAAAAAGTGGATCTTTTCCAATGCCAGAGCTTAAGCTGTCAATTTCATTCCCCAATATGACATCAAATGGTTACCCTGTGCTGTACCCAACTGGATTGTC
ATCTTCTGAGAATGCAAACTGCAGACCCCATATCTTTGAGGATCCTTTCAGTATCAACTCTGGAAAGAAAATGACTACATCAACTGACCATCTCAAACGA
GGCACAATTCTGGACTGCAATACATGTAAATTTGCTACCATCACATGTAATCTCACTTCTTCTGACATCAGCCAAGTCAATGTTTCGCTTATCTTGTGGA
AACCAACTTTTATAAAATCATATTTTTCCAGCTTAAATCTTACTATAAGGGGAGRACTTCGGAGTGAAAATGCATCTCTGGTTTTAAGTAGCAGCAATCA
AAAAAGAGAGCTTGCTATTCAAATATCCAAAGATGGGCTACCGGGCAGAGTGCCATTATGGGTCATCCTGCTGAGTGCTTTTGCCGGATTGTTGCTGTTA
ATGCTGCTCATTTTAGCACTGTGGAAGATTGGATTCTTCAAAAGACCACTGAAAAAGAAAATGGAGAAATGAAATATTTTAYGAAAGAAAATAATAACAA
TTATTCAATAATCTATCCTCAGGTTTGCCTCAAATATGTGACAAGAAATGTATAATTCATGACATAGTCATGTAACTATGTAATCCATCAGGGATTCATT
ACTTGGAAAATGACAGGTCATGCATTATCCAAAAACAATACCAAAAAGACATATTTTATAAAATGACAAAAAATATTTTACATAATTACTCATTTTTGTT
GAGTAAGCAAAATTACAAAGTGTTTTTAAAAAAACCTGTACAAATATGTTTATGTATTAAATCACCATCCAAAATATTTAAGGAATATATAAAAAGATTT
TTATGATCATAGAAACATCTATTTTCAAAACAATATAAATTAAGCTTTTCCCCTTGATTCCTGTTGGATATCCATGTTCAGCATGACAGTCAGCACTCGT
AAATGCCAAGAAAAGAATTACCTGAAAAAGATCATTTCTCCCTATTCAAATGAGAATATTTTCCCTYGGTAGAATCCATATACAATATGGATTGAAAATT
AAGTCACSAAGAATACATTTAGCATCTTTGTGTTGGGTTCTATACCTAAAAATTTTCCCTCCCKGCCCAAGGTGATTGGAAAGTACTGCAATTGRGCTAA
AATTTTATCTAGGATGGAAAATCAGGATAGACTCGTTTAAAAACAAGTATATTAAATGGGTTAAATTAAGCTTTTACAGAACATGCTTAATTYTGATATT
GAGCTCTAAATGCAAAACYCTTTTATACTGAAAAAACACTTAAAGYAGTTTTGTGTGGCATCACAGTGATTTGTCATGAAAAGCCATATATGGGGGACAT
GCTAAAATGGCTTCTGAATGAAATACGACAGCAGAGAAAGATGCCACTGAAATGCTGAAATTATCTTTGCTGAGCAGCTTTTGAATGCTAAGGGTTCCAG
TATGTGACCCAAAGAARGAGTTGTCTCAACTCCTTGGTACAGGGTTCATTCAAACCCCCAAGCTGTGAGAGTGTGTTTATTTTTAATTTTTTAAAAGGTA
TTTAATTTCCAACCACACTTCTTATTTTTTTGAAAAGACAATTTTCCATTTCAGTATTACATTTTACCAAGAAGTCACTGCTTTTTAGGTGTGTTGCATC
AATATTTAAATAAAATCCCAGAAATGTATTTTAAAGAATTTCAGGTTTGAAAACTCAAACCAACAGRAAGATATCACACCTTTGTATGTGCTTCTTTGTT
CTTGAAGTAGTCATTATGGTTCATTGGAATCTACTGTAGCATAAGCTCCTAGGTTGCTCCATTTCTTAGGAAAATAGCAATGAATGAATGTATAGTAGYT
GCWTGTGTGAACTACTGCTGTAAAGTTTGCTGACATTTCTGCAACAACATTTCTCCATCTGATTTACCAGAACCTGTAACAAGACCAGAACATGTATTYA
TCCAGAAACTCCTGGGCTCTGCTTTGTTCAAAGAGGAGCAAATCCACATAGAAATTAAATGTTATAAATTTATTTTTTTAAACTAATTTCCAAAGAATTT
AGCTGAAGACTCAGAGTCAGCCTACCTCTTGACTCTCCACATCYGCATCTAAGATCCTGAAGGCCAAAGGAATGYGCCTGTGGGATGCCAAAGCCATCAG
TAGCTGGAAGAAAGAATACCTCTTTCTAGAGGTTTGGTGTCCTCTTGCTGGCCTGTCATTATTTGGAAATACGCGCTTTTGGAATTTCCTTCATTTTCGC
TATTTCCAGGTTCAGAAATCATACCTACCACTTGTTCTTTCTTTGCCCAGTAAAACTCAGGGTTTCTCTTATTCAGAGTTACCATGTTGCACACCCCCAG
TGCTCAGCCTGCCCAGAAGCCCTTCTCTGATCTCAGCAAGATCTTAGTAGTAAAGCTAACGGATCCATTGAAATTCATACTCAGCATCTGTGACTACTAG
ACAAAGCCCATTTACTGAACCATAAGTGTGCACTTTTAAACTAAATTRTTAACTGAAAGGGAAAAAATAGAAATGAGGGCATTTTGAAGTTTTTAGAAAA
GAGAGGAAGAGCTGTTGGCCAGATCAAAGAGATACTTATAAGCCCGGCACAATTTTTAACATAAGTCATTCCTGGCTATTAAGTAAAATATTTCATGAAC
CAGAAGTCCTGTTTCTCTAATATTATAATTTGTTGAGGTTTGTGTGTGTGTGTGTGTGCATGTGCAGACACATGTACACATATAAATTGAATACAAAAAT
AGCTCTATAACACCAAAAAACAGAGTTTACAGAAAATAAACACAAAAGCTATATCTGCAAGACAAGTTTGATTCATCTAGTTTCATATAGTTTCATATAG
TTTCATTTTTATTAATATTTAGGTTTAACTTATAGTTCTGCAATTATTTAAAAAACAAGTACAGAGCGTTTGATTAAAAAAAGTCAACAAATGTTTCAAA
ACAGCTTTGTACAAATGTTATAAAACATATTTAATGATTAAGAAATGTACTAGACTCTATCATTTACTTTTAAAACATTTAATTAGAAAAACAGGTGATA
TTTAAGACTATTTATAAACTTATTGGCYAAATTGCCAAAAAGTTTCTTTTTCTCTAACTTTGGTATTCTAAATAATTGATTATTGCTCCCATTGTAAACT
GAACCATGTATGCACTCTCTTTTCTGACCAAACTACAATGGTATATTGGTAAATTATTTAACAACACACTGTCCAGGAGGGAAAAAAAAAACAGTCTCTG
ATTTGTATCATTTGCCAATTTCCATGGTCCAAATATTCTCTCTCCATTTTCAAACTACCAAAGTGACCCTAATCAGCTTACAAAATTCCTGGAAATGTAT
CTGCCACCTCTTACCAACCAGTGTGAGCTGACTTCAGCACACCACTGAGACAGATTACACGATAGACAGATAGATAGATAGATAGATAGATAGATAGATA
GATAGATAGATAGATATTGATAGAGAACATGTTGTGTCTATATAMATATCCAATGACACACAGTATAATCATGTTTTAAATTATGCCAAAAGTACTGATT
ATATCAAGCCCAGTAAACATAATGCTACACAGCACCCATTCTTTAATTTTGATTTCTAAAATTATAACCTTCCTTTGATATTAATAAAATGTTATGAACT
TGCAGGAGAAGGAAGGAGTTGAAAGAAGGAAAATATAAAGGGTGATCCACAGTGAAAATCAGACCTACACAAGCCACAAAAAAATTGTCTCATTTTCCCA
AGGAATTCAAAGTCCTGTGATACACATTACAAAAGATGACACTTTGTAAATATTTTGAACTTCTATGATCCAATTTCAACTTCATTGGTCCAATTTGTCA
AACTATTTTCCTCTGAGCACTAGATTCATGGGCAATTTAATCTCTGAATATTTTCTGTGTCATAAGTGTGCTTGAAAAGAGGCTTGTAGTAAACAGATAT
TTTTACAAAATTTGATGCTTCTGCAACCATAATAATTTTATCTATAAATGCGTATATACATATATATATATATATWCACATACACTCACATGCAGATATT
TACATATATAGATATTCTCTTTTCCTTTTATAAAATCAAAGTCTAGGCTCAATTGGAAAATGGAAATATTTGCACCAAAAGAAAAAAGTGCCATTGTTGT
GATCAATGGAGTAAAGCTGGGGTATAGTAGAGGCTGGGGAAKCCCTGCCCATGTTCTCTCCAAGGCCACAGCTTGCACACCGTGAATGGTGGCCCCACTG
GCTCCATGGAGTGTGCCTTCACGCGGGGGAATGTCCTTGTCCAACACGCTGTAATCTACTCCATGGGAACTGACTGTCCTGCTTTTCACAACATTGAGAA
ACAGGCCCAGAGCCTGTCTCATGTGCCAGGTGCAGTCACATTATTGTTAAAATAAAGTGGCTTCTGACAAATCAGTTYTTCAAAATAGCATCCTATGTAC
TTTTCATTTCTTCCAACAACCCTCAGGCCCCCTTTTGCCAGTTTTCTCCCCCAGGGGRGATTTTCAAGACTACTGGAGAAAAATCTGTTAATAAAACATT
TGCTCTGAGTACCAGCTTCAGTGACTCAATCATTTATACAGGATTTCAGTGTTTTGTTCTGCAGCGGTGTTCTAAAGGGTTCACATAGTATAATGGAGGA
GGGACAAAGCAGAATATACTTCCAAGCTGGAACATCTTTAAGACATTTACAAACTGTTATGGGACACTATCAGCAACTACGCCTGBGGAAGCTAGCAGGA
TTTAGCTCTTCAATGGCCCTCCAAATGCACCCAACAATCGCCAACCTCACCCATGGAAATCATCTAAAAAATGAAAAGAAGGGCCTTAAAGTCCTCACAT
GGATGCTGTATTTATAACTAAAATGTACAGTTTAATTCTAAATAGCAGGCTTTTAAATGCAAACAGCTTCCAGGTGAGTCCTCTGGCTGCCAATCAGACT
GCTGATTCTAAACCATTCTCACACAGAATTTCTGAAACCAACACCAGGTATTAATTGTTAACTGCAGTGAAAGGAAACCAAGGCACATTACAAAAGGCTA
AATGCTGCTGTTTCTAAGTGGAAGCACTGTTGAACAACACTCTTAGGTGGAATAAGAAAATTAGGGTTAAACTGTAACAYTGTAATCGGACGAACAAATC
AGCATCTTTGATCCTCAGGTTAAAATTTAATCTTAAATTTAGAAATTCAAAGTAACAGCCTTTAACCATTAACCTTGAGGAAAATGTGAAGTAGCATCTG
GAGTCTCTTAAGCCCCAGCCCTGTTGTCCCCTACAGCATCTCCACCCAGGAAGTCCAGTTCCTAACTAATGGGAATGGATCCTTTTCCCATTATAAAGGG
CCGATGCTTAACCCTTGAACCCACTACTGTTCTTATGCCCCAAGATCTGCACCTTACATCAGGCACCCGGGAATGCTTCTCATTGAAATTTTACCATACC
AAAAAATATGTAAGGGTGACTCATCACYCCTAACTTTGGACTCCTTGCTTTGAGATCGGTATTTTTTTCTCTCTCTTTACATATAGCAAAAGCTTTCCCC
AGTAGCTGATGAATTTAGAACTTTATACAAGACTCCCTAGCATTTTCCTCCTCCCACAGGCTGGAGAATTTCAGTGCTATSAGACTGGGCAGTAGGAGCC
AGAGCCAATTTGCAGGATCTCTTTTCCTTCTGCCTTCCAGTTGGCTTCTCTTCTCAGCTGCGTGGTGGGGATGATTTGGGGTTTCCTCAGCAAGGCCATT
CTCTGCCTTGTGCCCATAGCAGGGCCTTGGGTGGTGACATGTTATCTTTGTTGGTGAGCAGACACTCAGAGATCCTTTAATTATCTGACACACCAGGGAA
ATCTTGGCAATCAACTAAGGACCTGTGACACTCATAACTATGWTTACATTTGGCTTTAGCATATTTCAGGTAATATCTTTATGAAAAAAAGATGAAGTAT
GGAATTGTAGGAACTCTTTTGCAATAGACTGAGATCCAATGTTTAAATCTTTTTATTTCAGTTTGATCTGTGCCTTTAGATTGGGGACAAAATTTTAAAA
ACAAATCTTCCAAATGACACCACAATGAAAGCCAGTTGTGGTCTTGAAAAATCTCTCTATTGCATTACTTATCCTCACCCTTGTTTTTTAAGAGGTAGAG
AGAGATTACTGGGAAGCAGTKAGCCAACATAATTGTCCTTTCCTCTACAGAATAGCTGTGCAGAAGGGGACCACCACACTTAGGACCAGTGCCAGGTGAC
AATCTTTCYGTCATGCTGCTGCAGCATTTTGCACCTTGAGAGACAGGAAAAAAAATGGGGGTGAGGGAGTGGAAGATGATGAAACTATTTCTCTTTTATG
TCTACATCCTTACTCCTCAAAATACTTTAAGCTCACTCAGACCCCATATACCCTGCCCACAATACTAACACATGTACTTTGCATAAGTAAATTGTTGATT
AAATAAGAGCAAAACTATATTCTTATGTGTAGATTAACCAAGGCTAATTTCCTGGAGTTTAATACACTTTGGATTCAAGTAAAAACAATCACTTAATGCA
GCAACATCTCAGACCCTCTTCACTCTAGAACCRTTTTATACAAGAGAACTCAACATTTACTGTTTTATTTCTGATATTGCCTGCCATTACTCAGGATGCA
AGAGATGCTCTGCATTCCTTATTAGGAAAAATTGGCCTGTAAGGAGAATGGTATACTGYGTATTACTACTGTGAGACTGTAAAATTGTTAATGGACAGTG
TAAAGAATTGTATTCATTTTATTAGCAAGAAAAATATTGCATACAAGAACTACTGCCCTGAAATATCCATCACTCCAATGAACTGTTCTGCCTGATCTAA
CATAAAGTTATATTTCATTGCTCATTTTTTTTTGCCTCACTAAAATGACTAACTTAAGGGAATGTGCATTTCTACAAGACTTTAATTGGATAAACTCATT
AGAAGAAAATGTTTCGATTGCATTCAGGAACAAAGAAGCATAACCTTTGTTGACTCTTGTAATTTATTATATGCTTCATTTAAACCCATTTTGTAAAGAA
ATCAGGTAACAGTCATTTAAYCTGATATAATTAGAAATAGCTGAGAGAGTAAAAAAGCATTTTGAATGTCCTATGTATGGCATATCCTGTACACCAATTG
AAGGTCAGAGCTTTGGTATTTTTGTATAATTCTGTCTTATCTGGTGCATCAGCTGTGTATTTTACGTCAAGGTAAATGAGCATCCTGTTTTATATGTTAA
ATTTTAAAAATGACKTTTTCAAAG

Protein Sequence    (SEQ ID NO:976):
MAPRPRARPGVAVACCWLLTVVLRCCVSFNVDVKNSMTFSGPVEDMFGYTVQQYENEEGKWVLIGSPLVGQPKNRTGDVYKCPVGRGESLPCVKLDLPVN
TSIPNVTEVKENMTFGSTLVTNPNGGFLACGPLYAYRCGHLHYTTGICSDVSPTFQVVNSIAPVQECSTQLDIVIVLDGSNSIYPWDSVTAFLNDLLERM
DIGPKQTQVGIVQYGENVTHEFNLNKYSSTEEVLVAAKKIVQRGGRQTMTALGIDTARKEAFTEARGARRGVKKVMVIVTDGESHDNHRLKKVIQDCEDE
NIQRFSIAILGSYNRGNLSTEKFVEEIKSIASEPTEKHFFNVSDELALVTIVKTLGERIFALEATADQSAASFEMEMSQTGFSAHYSQDWVMLGAVGAYD
WNGTVVMQKASQIIIPRNTTFNVESTKKNEPLASYLGYTVNSATASSGDVLYIAGQPRYNHTGQVIIYRMEDGNIKILQTLSGEQIGSYFGSILTTTDID
KDSNTDILLVGAPMYMGTEKEEQGKVYVYALNQTRFEYQMSLEPIKQTCCSSRQHNSCTTENKNEPCGARFGTAIAAVKDLNLDGFNDIVIGAPLEDDHG
GAVYIYHGSGKTIRKEYAQRIPSGGDGKTLKFFGQSIHGEMDLNGDGLTDVTIGGLGGAALFWSRDVAVVKVTMNFEPNKVNIQKKNCHMEGKETVCINA
TVCFDVKLKSKEDTIYEADLQYRVTLDSLRQISRSFFSGTQERKVQRNITVRKSECTKHSFYMLHDFQDSVRITLDFNLTDPENGPVLDDSLPNSVHEYI
PFAKDCGNKEKCISDLSLHVATTEKDLLIVRSQNDKFNVSLTVKNTKDSAYNTRTIVHYSPNLVFSGIEAIQKDSCESNHNITCKVGYPFLRRGEMVTFK
ILFQFNTSYLMENVTIYLSATSDSEEPPETLSDNVVNISIPVKYEVGLQFYSSASEYHISIAANETVPEVINSTEDIGNEINIFYLIRKSGSFPMPELKL
SISFPNMTSNGYPVLYPTGLSSSENANCRPHIFEDPFSINSGKKMTTSTDHLKRGTILDCNTCKFATITCNLTSSDISQVNVSLILWKPTFIKSYFSSLN
LTIRGELRSENASLVLSSSNQKRELAIQISKDGLPGRVPLWVILLSAFAGLLLLMLLILALWKIGFFKRPLKKKMEK


SNP Information

Context             (SEQ ID NO:5178):
AAGGCACATTACAAAAGGCTAAATGCTGCTGTTTCTAAGTGGAAGCACTGTTGAACAACACTCTTAGGTGGAATAAGAAAATTAGGGTTAAACTGTAACA
Y
TGTAATCGGACGAACAAATCAGCATCTTTGATCCTCAGGTTAAAATTTAATCTTAAATTTAGAAATTCAAAGTAACAGCCTTTAACCATTAACCTTGAGG
Celera SNP ID:            hCV26092492
SNP Position Transcript:  8580
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5179):
CTGAGACAGATTACACGATAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATATTGATAGAGAACATGTTGTGTCTATATA
M
ATATCCAATGACACACAGTATAATCATGTTTTAAATTATGCCAAAAGTACTGATTATATCAAGCCCAGTAAACATAATGCTACACAGCACCCATTCTTTA
Celera SNP ID:            hCV12014497
SNP Position Transcript:  6945
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5180):
AAAGAGGCTTGTAGTAAACAGATATTTTTACAAAATTTGATGCTTCTGCAACCATAATAATTTTATCTATAAATGCGTATATACATATATATATATATAT
W
CACATACACTCACATGCAGATATTTACATATATAGATATTCTCTTTTCCTTTTATAAAATCAAAGTCTAGGCTCAATTGGAAAATGGAAATATTTGCACC
Celera SNP ID:            hCV26092493
SNP Position Transcript:  7476
SNP Source:               Celera
Population(Allele,Count): no_pop(A,5|T,5|-,6)   total(A,5|-,6|T,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5181):
GAAAATGGGTGCTTATTGGTTCTCCGTTAGTTGGCCAACCCAAAAACAGAACTGGAGATGTCTATAAGTGTCCAGTTGGGAGAGGTGAATCATTACCTTG
Y
GTAAAGTTGGATCTACCAGTTAATACATCAATTCCCAATGTCACAGAAGTAAAGGAGAACATGACATTTGGATCAACTTTAGTCACCAACCCAAATGGAG
Celera SNP ID:            hCV15865111
SNP Position Transcript:  714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:976, 92, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5182):
CTGGGAAGCTGCCAGTGAGATTTCAGAGACCAAGAGCGCGAAGGGGCGGGCGATGTGGCAATCCGTCTGGGATGTGAAAAGCGTGGAGCGCATTTAGAGG
M
ATTCGACGAAAACACAGGAAATCACTCCTCTCCCGCTCCTGGGCGCCGCTGCCACTGGGGCAGAGGACTGGGAACCGCGGCAGCGGGATAAGTGGCCCAG
Celera SNP ID:            hCV15958460
SNP Position Transcript:  262
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,8)      total(A,1|C,8) ;JBIC-allele(A,465|C,1038)   total(A,465|C,1038)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5183):
TATCTTTGTTGGTGAGCAGACACTCAGAGATCCTTTAATTATCTGACACACCAGGGAAATCTTGGCAATCAACTAAGGACCTGTGACACTCATAACTATG
W
TTACATTTGGCTTTAGCATATTTCAGGTAATATCTTTATGAAAAAAAGATGAAGTATGGAATTGTAGGAACTCTTTTGCAATAGACTGAGATCCAATGTT
Celera SNP ID:            hCV1150520
SNP Position Transcript:  9343
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|T,6)      total(A,3|T,6) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5184):
ATATAGCAAAAGCTTTCCCCAGTAGCTGATGAATTTAGAACTTTATACAAGACTCCCTAGCATTTTCCTCCTCCCACAGGCTGGAGAATTTCAGTGCTAT
S
AGACTGGGCAGTAGGAGCCAGAGCCAATTTGCAGGATCTCTTTTCCTTCTGCCTTCCAGTTGGCTTCTCTTCTCAGCTGCGTGGTGGGGATGATTTGGGG
Celera SNP ID:            hCV1150521
SNP Position Transcript:  9081
SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|G,5)   total(G,5|C,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5185):
CCTGCTTTTCACAACATTGAGAAACAGGCCCAGAGCCTGTCTCATGTGCCAGGTGCAGTCACATTATTGTTAAAATAAAGTGGCTTCTGACAAATCAGTT
Y
TTCAAAATAGCATCCTATGTACTTTTCATTTCTTCCAACAACCCTCAGGCCCCCTTTTGCCAGTTTTCTCCCCCAGGGGAGATTTTCAAGACTACTGGAG
Celera SNP ID:            hCV1150523
SNP Position Transcript:  7878
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,5)      total(C,1|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   no_pop(T,-|C,-)   POOLE|_CEPH(T,52|C,136)   total(C,136|T,52) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5186):
TATTTAATGATTAAGAAATGTACTAGACTCTATCATTTACTTTTAAAACATTTAATTAGAAAAACAGGTGATATTTAAGACTATTTATAAACTTATTGGC
Y
AAATTGCCAAAAAGTTTCTTTTTCTCTAACTTTGGTATTCTAAATAATTGATTATTGCTCCCATTGTAAACTGAACCATGTATGCACTCTCTTTTCTGAC
Celera SNP ID:            hCV1150524
SNP Position Transcript:  6528
SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5187):
ACTTCTTCTGACATCAGCCAAGTCAATGTTTCGCTTATCTTGTGGAAACCAACTTTTATAAAATCATATTTTTCCAGCTTAAATCTTACTATAAGGGGAG
R
ACTTCGGAGTGAAAATGCATCTCTGGTTTTAAGTAGCAGCAATCAAAAAAGAGAGCTTGCTATTCAAATATCCAAAGATGGGCTACCGGGCAGAGTGCCA
Celera SNP ID:            hCV8884725
SNP Position Transcript:  3755
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,9)   caucasian(A,34)   total(A,63|G,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 1106, (E,GAA)   (G,GGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,12)      total(G,1|A,12) ;JBIG-allele(G,301|A,1190)   total(G,301|A,1190)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 1106, (E,GAA)   (G,GGA)      1106, (G,GGA)   (E,GAA)      



Context             (SEQ ID NO:5188):
TAGTAAAGCTAACGGATCCATTGAAATTCATACTCAGCATCTGTGACTACTAGACAAAGCCCATTTACTGAACCATAAGTGTGCACTTTTAAACTAAATT
R
TTAACTGAAAGGGAAAAAATAGAAATGAGGGCATTTTGAAGTTTTTAGAAAAGAGAGGAAGAGCTGTTGGCCAGATCAAAGAGATACTTATAAGCCCGGC
Celera SNP ID:            hCV1150525
SNP Position Transcript:  5948
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,9)      total(G,9|A,3) ;no_pop(A,-|G,-)   Caucasian(G,24|A,58)   African-American(A,36|G,44)   no_pop(A,-|G,-)   Asians(A,38|G,44)   total(G,112|A,132)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5189):
TTTTTAAACTAATTTCCAAAGAATTTAGCTGAAGACTCAGAGTCAGCCTACCTCTTGACTCTCCACATCCGCATCTAAGATCCTGAAGGCCAAAGGAATG
Y
GCCTGTGGGATGCCAAAGCCATCAGTAGCTGGAAGAAAGAATACCTCTTTCTAGAGGTTTGGTGTCCTCTTGCTGGCCTGTCATTATTTGGAAATACGCG
Celera SNP ID:            hCV1150526
SNP Position Transcript:  5575
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|T,5)      total(C,5|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5190):
CCACATAGAAATTAAATGTTATAAATTTATTTTTTTAAACTAATTTCCAAAGAATTTAGCTGAAGACTCAGAGTCAGCCTACCTCTTGACTCTCCACATC
Y
GCATCTAAGATCCTGAAGGCCAAAGGAATGCGCCTGTGGGATGCCAAAGCCATCAGTAGCTGGAAGAAAGAATACCTCTTTCTAGAGGTTTGGTGTCCTC
Celera SNP ID:            hCV1150527
SNP Position Transcript:  5544
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,5)   total(C,5|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5191):
AACCTCCTGAAACCCTTTCTGATAATGTAGTAAACATTTCTATCCCGGTAAAATATGAAGTTGGACTACAGTTTTACAGCTCTGCAAGTGAATACCACAT
K
TCAATTGCTGCCAATGAGACAGTCCCTGAAGTTATTAATTCTACTGAGGACATTGGAAATGAAATTAATATCTTCTACTTGATTAGAAAAAGTGGATCTT
Celera SNP ID:            hCV1150560
SNP Position Transcript:  3315
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,7)   total(G,1|T,7) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 959, (M,ATG)   (I,ATT)      



Context             (SEQ ID NO:5192):
GCACTCCTTCTACATGTTGCATGACTTTCAGGACTCTGTGAGAATAACGTTGGACTTTAATCTTACCGATCCAGAAAATGGGCCTGTTCTTGATGATTCT
Y
TACCAAACTCAGTACATGAATATATTCCCTTTGCCAAAGATTGTGGAAATAAGGAAAAATGTATCTCAGACCTCAGCCTGCATGTCGCCACCACTGAAAA
Celera SNP ID:            hCV25636662
SNP Position Transcript:  2812
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:976, 792, (L,CTA)   (L,TTA)   



Context             (SEQ ID NO:5193):
AATGAAATACGACAGCAGAGAAAGATGCCACTGAAATGCTGAAATTATCTTTGCTGAGCAGCTTTTGAATGCTAAGGGTTCCAGTATGTGACCCAAAGAA
R
GAGTTGTCTCAACTCCTTGGTACAGGGTTCATTCAAACCCCCAAGCTGTGAGAGTGTGTTTATTTTTAATTTTTTAAAAGGTATTTAATTTCCAACCACA
Celera SNP ID:            hCV16007977
SNP Position Transcript:  4917
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5194):
AGTATATTAAATGGGTTAAATTAAGCTTTTACAGAACATGCTTAATTTTGATATTGAGCTCTAAATGCAAAACTCTTTTATACTGAAAAAACACTTAAAG
Y
AGTTTTGTGTGGCATCACAGTGATTTGTCATGAAAAGCCATATATGGGGGACATGCTAAAATGGCTTCTGAATGAAATACGACAGCAGAGAAAGATGCCA
Celera SNP ID:            hCV16007978
SNP Position Transcript:  4746
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5195):
CTGCATGTGTGAACTACTGCTGTAAAGTTTGCTGACATTTCTGCAACAACATTTCTCCATCTGATTTACCAGAACCTGTAACAAGACCAGAACATGTATT
Y
ATCCAGAAACTCCTGGGCTCTGCTTTGTTCAAAGAGGAGCAAATCCACATAGAAATTAAATGTTATAAATTTATTTTTTTAAACTAATTTCCAAAGAATT
Celera SNP ID:            hCV1150529
SNP Position Transcript:  5399
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,5)      total(C,5|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5196):
TGTTCTTATGCCCCAAGATCTGCACCTTACATCAGGCACCCGGGAATGCTTCTCATTGAAATTTTACCATACCAAAAAATATGTAAGGGTGACTCATCAC
Y
CCTAACTTTGGACTCCTTGCTTTGAGATCGGTATTTTTTTCTCTCTCTTTACATATAGCAAAAGCTTTCCCCAGTAGCTGATGAATTTAGAACTTTATAC
Celera SNP ID:            hCV11588875
SNP Position Transcript:  8928
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5197):
CAAGTGAACCCACTGAAAAGCATTTCTTCAATGTCTCTGATGAATTGGCTCTAGTCACCATTGTTAAAACTCTGGGAGAAAGAATATTTGCCCTGGAAGC
Y
ACAGCTGACCAGTCAGCAGCTTCATTTGAAATGGAAATGTCTCAGACTGGCTTCAGTGCTCATTATTCACAGGACTGGGTCATGCTTGGAGCAGTAGGAG
Celera SNP ID:            hCV8884004
SNP Position Transcript:  1530
SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,22)   caucasian(C,19|T,13)   total(C,33|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:976, 364, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:976, 364, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5198):
TAGTATAATGGAGGAGGGACAAAGCAGAATATACTTCCAAGCTGGAACATCTTTAAGACATTTACAAACTGTTATGGGACACTATCAGCAACTACGCCTG
B
GGAAGCTAGCAGGATTTAGCTCTTCAATGGCCCTCCAAATGCACCCAACAATCGCCAACCTCACCCATGGAAATCATCTAAAAAATGAAAAGAAGGGCCT
Celera SNP ID:            hCV11588876
SNP Position Transcript:  8186
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,4)      total(G,4|T,1) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5199):
TATCCACGGAGAAATGGATTTAAATGGTGACGGTCTGACAGATGTGACTATTGGGGGCCTTGGTGGTGCTGCCCTCTTCTGGTCCCGAGATGTGGCCGTA
R
TTAAAGTGACCATGAATTTTGAGCCAAATAAAGTGAATATTCAAAAGAAAAACTGCCATATGGAGGGAAAGGAAACAGTATGCATAAATGCTACAGTGTG
Celera SNP ID:            hCV15968121
SNP Position Transcript:  2446
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,35)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 670, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 670, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:5200):
GGTATTTTTGTATAATTCTGTCTTATCTGGTGCATCAGCTGTGTATTTTACGTCAAGGTAAATGAGCATCCTGTTTTATATGTTAAATTTTAAAAATGAC
K
TTTTCAAAG
Celera SNP ID:            hCV1150514
SNP Position Transcript:  10715
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,4)   total(G,1|T,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5201):
TGAAGTAGTCATTATGGTTCATTGGAATCTACTGTAGCATAAGCTCCTAGGTTGCTCCATTTCTTAGGAAAATAGCAATGAATGAATGTATAGTAGCTGC
W
TGTGTGAACTACTGCTGTAAAGTTTGCTGACATTTCTGCAACAACATTTCTCCATCTGATTTACCAGAACCTGTAACAAGACCAGAACATGTATTCATCC
Celera SNP ID:            hCV1150530
SNP Position Transcript:  5303
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|T,4)      total(A,4|T,4) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5202):
CATTCAGGAACAAAGAAGCATAACCTTTGTTGACTCTTGTAATTTATTATATGCTTCATTTAAACCCATTTTGTAAAGAAATCAGGTAACAGTCATTTAA
Y
CTGATATAATTAGAAATAGCTGAGAGAGTAAAAAAGCATTTTGAATGTCCTATGTATGGCATATCCTGTACACCAATTGAAGGTCAGAGCTTTGGTATTT
Celera SNP ID:            hCV1150515
SNP Position Transcript:  10521
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5203):
TTCTTGAAGTAGTCATTATGGTTCATTGGAATCTACTGTAGCATAAGCTCCTAGGTTGCTCCATTTCTTAGGAAAATAGCAATGAATGAATGTATAGTAG
Y
TGCATGTGTGAACTACTGCTGTAAAGTTTGCTGACATTTCTGCAACAACATTTCTCCATCTGATTTACCAGAACCTGTAACAAGACCAGAACATGTATTC
Celera SNP ID:            hCV1150531
SNP Position Transcript:  5299
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,4)      total(C,4|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5204):
ACTGTTTTATTTCTGATATTGCCTGCCATTACTCAGGATGCAAGAGATGCTCTGCATTCCTTATTAGGAAAAATTGGCCTGTAAGGAGAATGGTATACTG
Y
GTATTACTACTGTGAGACTGTAAAATTGTTAATGGACAGTGTAAAGAATTGTATTCATTTTATTAGCAAGAAAAATATTGCATACAAGAACTACTGCCCT
Celera SNP ID:            hCV1150516
SNP Position Transcript:  10159
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,5)   total(C,5|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5205):
AAAATTAAGTCACCAAGAATACATTTAGCATCTTTGTGTTGGGTTCTATACCTAAAAATTTTCCCTCCCTGCCCAAGGTGATTGGAAAGTACTGCAATTG
R
GCTAAAATTTTATCTAGGATGGAAAATCAGGATAGACTCGTTTAAAAACAAGTATATTAAATGGGTTAAATTAAGCTTTTACAGAACATGCTTAATTTTG
Celera SNP ID:            hCV1150532
SNP Position Transcript:  4595
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,3)      total(G,2|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5206):
ATTAACCAAGGCTAATTTCCTGGAGTTTAATACACTTTGGATTCAAGTAAAAACAATCACTTAATGCAGCAACATCTCAGACCCTCTTCACTCTAGAACC
R
TTTTATACAAGAGAACTCAACATTTACTGTTTTATTTCTGATATTGCCTGCCATTACTCAGGATGCAAGAGATGCTCTGCATTCCTTATTAGGAAAAATT
Celera SNP ID:            hCV1150517
SNP Position Transcript:  10033
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,4)      total(G,4|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5207):
CCAAGAAGTCACTGCTTTTTAGGTGTGTTGCATCAATATTTAAATAAAATCCCAGAAATGTATTTTAAAGAATTTCAGGTTTGAAAACTCAAACCAACAG
R
AAGATATCACACCTTTGTATGTGCTTCTTTGTTCTTGAAGTAGTCATTATGGTTCATTGGAATCTACTGTAGCATAAGCTCCTAGGTTGCTCCATTTCTT
Celera SNP ID:            hCV8884733
SNP Position Transcript:  5167
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5208):
AAGAAAAGAATTACCTGAAAAAGATCATTTCTCCCTATTCAAATGAGAATATTTTCCCTTGGTAGAATCCATATACAATATGGATTGAAAATTAAGTCAC
S
AAGAATACATTTAGCATCTTTGTGTTGGGTTCTATACCTAAAAATTTTCCCTCCCTGCCCAAGGTGATTGGAAAGTACTGCAATTGAGCTAAAATTTTAT
Celera SNP ID:            hCV1150533
SNP Position Transcript:  4508
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,4)      total(G,2|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5209):
CTGGGAAGCAGTGAGCCAACATAATTGTCCTTTCCTCTACAGAATAGCTGTGCAGAAGGGGACCACCACACTTAGGACCAGTGCCAGGTGACAATCTTTC
Y
GTCATGCTGCTGCAGCATTTTGCACCTTGAGAGACAGGAAAAAAAATGGGGGTGAGGGAGTGGAAGATGATGAAACTATTTCTCTTTTATGTCTACATCC
Celera SNP ID:            hCV1150518
SNP Position Transcript:  9709
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,3)   total(C,3|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5210):
TCTAGGCTCAATTGGAAAATGGAAATATTTGCACCAAAAGAAAAAAGTGCCATTGTTGTGATCAATGGAGTAAAGCTGGGGTATAGTAGAGGCTGGGGAA
K
CCCTGCCCATGTTCTCTCCAAGGCCACAGCTTGCACACCGTGAATGGTGGCCCCACTGGCTCCATGGAGTGTGCCTTCACGCGGGGGAATGTCCTTGTCC
Celera SNP ID:            hCV8884734
SNP Position Transcript:  7642
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,4|G,8)      total(G,8|T,4) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   POOLE|_CEPH(T,46|G,142)   total(G,142|T,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5211):
GATATCCATGTTCAGCATGACAGTCAGCACTCGTAAATGCCAAGAAAAGAATTACCTGAAAAAGATCATTTCTCCCTATTCAAATGAGAATATTTTCCCT
Y
GGTAGAATCCATATACAATATGGATTGAAAATTAAGTCACCAAGAATACATTTAGCATCTTTGTGTTGGGTTCTATACCTAAAAATTTTCCCTCCCTGCC
Celera SNP ID:            hCV1150534
SNP Position Transcript:  4467
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,4)      total(C,2|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5212):
CACAATGAAAGCCAGTTGTGGTCTTGAAAAATCTCTCTATTGCATTACTTATCCTCACCCTTGTTTTTTAAGAGGTAGAGAGAGATTACTGGGAAGCAGT
K
AGCCAACATAATTGTCCTTTCCTCTACAGAATAGCTGTGCAGAAGGGGACCACCACACTTAGGACCAGTGCCAGGTGACAATCTTTCCGTCATGCTGCTG
Celera SNP ID:            hCV1150519
SNP Position Transcript:  9621
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5213):
TGCCGGATTGTTGCTGTTAATGCTGCTCATTTTAGCACTGTGGAAGATTGGATTCTTCAAAAGACCACTGAAAAAGAAAATGGAGAAATGAAATATTTTA
Y
GAAAGAAAATAATAACAATTATTCAATAATCTATCCTCAGGTTTGCCTCAAATATGTGACAAGAAATGTATAATTCATGACATAGTCATGTAACTATGTA
Celera SNP ID:            hCV1150535
SNP Position Transcript:  3982
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,7)      total(C,4|T,7) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5214):
AAATCAGGATAGACTCGTTTAAAAACAAGTATATTAAATGGGTTAAATTAAGCTTTTACAGAACATGCTTAATTTTGATATTGAGCTCTAAATGCAAAAC
Y
CTTTTATACTGAAAAAACACTTAAAGTAGTTTTGTGTGGCATCACAGTGATTTGTCATGAAAAGCCATATATGGGGGACATGCTAAAATGGCTTCTGAAT
Celera SNP ID:            hCV16007985
SNP Position Transcript:  4719
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5215):
AAAGAAGACACGATTTATGAAGCTGATTTGCAGTACCGTGTCACCCTAGATTCACTAAGACAAATATCACGAAGTTTTTTCTCTGGAACTCAAGAGAGAA
R
GGTTCAAAGGAACATCACAGTTCGAAAATCAGAATGCACTAAGCACTCCTTCTACATGTTGCATGACTTTCAGGACTCTGTGAGAATAACGTTGGACTTT
Celera SNP ID:            hCV25636671
SNP Position Transcript:  2669
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 744, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:5216):
TCTGGAGATGTGCTCTATATTGCTGGACAGCCTCGGTACAATCATACAGGCCAGGTCATTATCTACAGGATGGAAGATGGAAACATCAAAATTCTCCAGA
Y
GCTCAGTGGAGAACAGATTGGTTCCTACTTTGGCAGTATTTTAACAACAACTGACATTGACAAGGATTCTAATACTGACATTCTTCTAGTCGGAGCCCCT
Celera SNP ID:            hCV25636672
SNP Position Transcript:  1877
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,31|T,1)   total(C,66|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 480, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:976, 480, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:5217):
GTGTTACAGCTTTTTTAAATGACCTTCTTGAAAGAATGGATATTGGTCCTAAACAGACACAGGTTGGAATTGTACAGTATGGAGAAAACGTGACCCATGA
R
TTCAACCTCAATAAGTATTCTTCCACCGAAGAGGTACTTGTTGCAGCAAAGAAAATAGTCCAGAGAGGTGGCCGCCAGACTATGACAGCTCTTGGAATAG
Celera SNP ID:            hCV25636690
SNP Position Transcript:  1101
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:976, 221, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:5218):
TGGCTTCTGACAAATCAGTTTTTCAAAATAGCATCCTATGTACTTTTCATTTCTTCCAACAACCCTCAGGCCCCCTTTTGCCAGTTTTCTCCCCCAGGGG
R
GATTTTCAAGACTACTGGAGAAAAATCTGTTAATAAAACATTTGCTCTGAGTACCAGCTTCAGTGACTCAATCATTTATACAGGATTTCAGTGTTTTGTT
Celera SNP ID:            hCV15800957
SNP Position Transcript:  7958
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5219):
TGAGCTAAAATTTTATCTAGGATGGAAAATCAGGATAGACTCGTTTAAAAACAAGTATATTAAATGGGTTAAATTAAGCTTTTACAGAACATGCTTAATT
Y
TGATATTGAGCTCTAAATGCAAAACTCTTTTATACTGAAAAAACACTTAAAGTAGTTTTGTGTGGCATCACAGTGATTTGTCATGAAAAGCCATATATGG
Celera SNP ID:            hCV28984067
SNP Position Transcript:  4693
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Context             (SEQ ID NO:5220):
CCTTGGTAGAATCCATATACAATATGGATTGAAAATTAAGTCACCAAGAATACATTTAGCATCTTTGTGTTGGGTTCTATACCTAAAAATTTTCCCTCCC
K
GCCCAAGGTGATTGGAAAGTACTGCAATTGAGCTAAAATTTTATCTAGGATGGAAAATCAGGATAGACTCGTTTAAAAACAAGTATATTAAATGGGTTAA
Celera SNP ID:            hCV28984068
SNP Position Transcript:  4564
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:976, None   



Gene Number:                 101
Celera Gene:                 hCG20042 - 206000041550871
Celera Transcript:           hCT2334534 - 206000041550895
Public Transcript Accession: NM_018565
Celera Protein:              hCP1810924 - 206000041550841
Public Protein Accession:    NP_061035
Gene Symbol:                 TDE2
Protein Name:                tumor differentially expressed protein 2;FKSG84;PRO0899
Celera Genomic Axis:         GA_x5YUV32W802(51716887..51741022)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:280):
GTATTTGTCTGGTTCCTGTCTGTGTCCGTCGTTCGTCCGACTGTCTTTGTCCGTCTGCTGTCTTCTGTCCGTCTGCCCGTCCGCCCGTCCGTCCCTCAGT
CTCTCTGCGGTCCCTTTACCGTCCTCAGTCTGGCTCGCGCTGCCTCTCAGGCACTTCCCCAGCTCGCCCCGGACCATCTGGGCCCCAGCGCGGAGACTGG
GATGGGAGCGGAGGGAGCCCCGGACTTTCTTAGCTGCCCTCGAGTGAGGCGGGTGCGGGTCGTCACGGACCACCGGGCGGAACTCTGGGTTGGGAGAGCA
GGAATCGAGGGAGGTTCGGGTGTGCGCGGGGAGTGCCCGGTCGCGGGTTCGGGACCTGTGGGGAGGCCAACCTCTGTTCTGTAGCTGCAGCCGCAGAGGG
GAGGGGCTCCAGCAAGACCCCGGCTGGGAGGCCCGTTCTCCCTTCCCTTTCCCCAGCCCCCCTCTCCTTTCCTCTTCCCCTCATTAAATCTGAGGTTCAT
TCAGGCAGCCCCCTCCCCCTCTGGCCCCACACAAAGAGGCCCTGAGAGGGAGAAGGGGCTGCAGCGGCTGCTGAATCTCGGGACTCGCTTTCCTTTGTCC
CTGACGGGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGWGAGAGAGAGAGAGAGAGAGGAGGGGGTGTAGGGGAGAGCTGAGGGTCTAGAGATTT
ACTTTACAGCCTTTTTCTGAGAATGAGATCAGCATAGACAGCACAGAGAGGCAAGAGAGCCTCTCGCCTCATTAGGCCTCCATTTTTCGTGTGTGTGTGT
GCGTGTGCATGTGCGTGTGCAGGAGGAGGAATCAAGCTGGTGCCTAAAATCCCTCCCAGCCCAAAGAATTCAAGGTTTGGGCCAGGTCTCTGCCAACAAG
GGTTTGCTTCCTGGTGAGGGAGGCAGAGCTTCCACAGTGGACCTGATTTCCATCGGTTGCACCTGCATTGGAACTGGGCTGAAGGTGAACTGGGCTGAAG
GCGTCCTGCCTCTGCGGCTCTGCCCCCTGCATCCTGTGCAGCTGCTGCCCCGCCAGCCGCAACTCCACCGTGAGCCGCCTCATCTTCACGTTCTTCCTCT
TCCTGGGGGTGCTGGTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCAC
CGTCCTGCAGGGCCRCATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTYGCCACGGCRGCCTTCTTCTTCTTTTTCACCCTG
CTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTG
CCTTCTACATYCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGYGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATYGA
CTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCTAC
TTGCTGTCGATCGCGGCCGTGGCGCTGATGTTCATGTACTACACTGAGCCCAGCGGCTGCCACGAGGGCAAGGTCTTCATCAGCCTCAACCTCACCTTCT
GTGTCTGCGTGTCCATCGCTGCTGTCCTGCCCAAGGTCCAGGACGCCCAGCCCAACTCGGGTCTGCTGCAGGCCTCGGTCATCACCCTCTACACCATGTT
TGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTGRGCAACGAGACAGTTGTGGCAGGCCCCGAGGGC
TATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTTCATCAGTCTGCGCTCCTCAGACCACCGGCAGG
TGAACAGCCTGATGCAGACCGAGGAGTGCCCACCTATGCTAGACGCCACACAGCAGCAGCAGCAGCAGGTGGCAGCCTGTGAGGGCCGGGCCTTTGACAA
CGAGCAGGACGGCGTCACCTACAGCTACTCCTTCTTCCACTTCTGCCTGGTGCTGGCCTCACTGCACGTCATGATGACGCTCACCAACTGGTACAAGCCC
GGTGAGACCCGGAAGATGATCAGCACGTGGACCGCCGTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGGCTGCTCCTCTACCTGTGGACCCTGGTAGCCC
CACTCCTCCTGCGCAACCGCGACTTCAGCTGAGGCAGCCTCACAGCCTGCCATCTGGTGCCTCCTGCCACCTGGTGCCTCTCGGCTCGGTGACAGCCAAC
CTGCCCCCTCCCCACACCAATCAGCCAGGCTGAGCCCCCACCCCTGCCCCAGCTCCAGGACCTGCCCCTGAGCCGGGCCTTCTAGTCGTAGTGCCTTCAG
GGTCCGAGGAGCATCAGGCTCCTGCAGAGCCCCATCCCCCCGCCACACCCACACGGTGGAGCTGCCTCTTCCTTCCCCTCCTCCCTGTTGCCCATACTCA
GCATCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGA
AGCCCTGGTGTTCCTGGTCACKTCCCCCAGGGGACCCTGCCCBCTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAARCCAG
TGCGTGTAC

Protein Sequence    (SEQ ID NO:977):
MLSPGVESQLYKLPWVCEEGAGIPTVLQGHIDCGSLLGYRAVYRMCFATAAFFFFFTLLMLCVSSSRDPRAAIQNGFWFFKFLILVGLTVGAFYIPDGSF
TNIWFYFGVVGSFLFILIQLVLLIDFAHSWNQRWLGKAEECDSRAWYAGLFFFTLLFYLLSIAAVALMFMYYTEPSGCHEGKVFISLNLTFCVCVSIAAV
LPKVQDAQPNSGLLQASVITLYTMFVTWSALSSIPEQKCNPHLPTQLGNETVVAGPEGYETQWWDAPSIVGLIIFLLCTLFISLRSSDHRQVNSLMQTEE
CPPMLDATQQQQQQVAACEGRAFDNEQDGVTYSYSFFHFCLVLASLHVMMTLTNWYKPGETRKMISTWTAVWVKICASWAGLLLYLWTLVAPLLLRNRDF
S


SNP Information

Context             (SEQ ID NO:5221):
GCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACAT
Y
CCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACT
Celera SNP ID:            hCV25972959
SNP Position Transcript:  1411
SNP Source:               Applera
Population(Allele,Count): african american(T,16)   caucasian(C,10|T,16)   total(C,10|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 95, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 95, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5222):
CCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTT
Y
GCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTA
Celera SNP ID:            hCV25971423
SNP Position Transcript:  1267
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 47, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:5223):
GAGAGGGAGAAGGGGCTGCAGCGGCTGCTGAATCTCGGGACTCGCTTTCCTTTGTCCCTGACGGGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
W
GAGAGAGAGAGAGAGAGAGGAGGGGGTGTAGGGGAGAGCTGAGGGTCTAGAGATTTACTTTACAGCCTTTTTCTGAGAATGAGATCAGCATAGACAGCAC
Celera SNP ID:            hCV16002793
SNP Position Transcript:  644
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:977, None   



Context             (SEQ ID NO:5224):
GCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTG
R
GCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTT
Celera SNP ID:            hCV161389
SNP Position Transcript:  1868
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:977, 248, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5225):
GTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCC
R
CATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTG
Celera SNP ID:            hCV27471739
SNP Position Transcript:  1215
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:977, 30, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5226):
GTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCAT
Y
GACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCT
Celera SNP ID:            hCV164266
SNP Position Transcript:  1498
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,39|C,698)   total(C,698|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 124, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5227):
ATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGG
Y
GTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCG
Celera SNP ID:            hCV25964895
SNP Position Transcript:  1450
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26|T,2)   total(C,61|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 108, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5228):
GTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGC
R
GCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGA
Celera SNP ID:            hCV11266470
SNP Position Transcript:  1276
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,31)   total(A,6|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 50, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;JBIC-allele(A,263|G,1028)   total(G,1028|A,263)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:977, 50, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:5229):
GAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCC
B
CTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV26048539
SNP Position Transcript:  2743
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:977, None   



Context             (SEQ ID NO:5230):
CCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCAC
K
TCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV7441968
SNP Position Transcript:  2722
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:977, None   



Context             (SEQ ID NO:5231):
ACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAA
R
CCAGTGCGTGTAC
Celera SNP ID:            hCV28966114
SNP Position Transcript:  2796
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:977, None   



Gene Number:                 101
Celera Gene:                 hCG20042 - 206000041550871
Celera Transcript:           hCT11114 - 206000041550872
Public Transcript Accession: NM_018565
Celera Protein:              hCP37754 - 206000041550838
Public Protein Accession:    NP_061035
Gene Symbol:                 TDE2
Protein Name:                tumor differentially expressed protein 2;FKSG84;PRO0899
Celera Genomic Axis:         GA_x5YUV32W802(51716887..51740980)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:281):
GTCTTTGTCCGTCTGCTGTCTTCTGTCCGTCTGCCCGTCCGCCCGTCCGTCCCTCAGTCTCTCTGCGGTCCCTTTACCGTCCTCAGTCTGGCTCGCGCTG
CCTCTCAGGCACTTCCCCAGCTCGCCCCGGACCATCTGGGCCCCAGCGCGGAGACTGGGATGGGAGCGGAGGGAGCCCCGGACTTTCTTAGCTGCCCTCG
AGTGAGGCGGGCGTCCTGCCTCTGCGGCTCTGCCCCCTGCATCCTGTGCAGCTGCTGCCCCGCCAGCCGCAACTCCACCGTGAGCCGCCTCATCTTCACG
TTCTTCCTCTTCCTGGGGGTGCTGGTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCG
GGATCCCCACCGTCCTGCAGGGCCRCATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTYGCCACGGCRGCCTTCTTCTTCTT
TTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTC
ACCGTGGGTGCCTTCTACATYCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGYGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGC
TGCTCATYGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCT
CCTCTTCTACTTGCTGTCGATCGCGGCCGTGGCGCTGATGTTCATGTACTACACTGAGCCCAGCGGCTGCCACGAGGGCAAGGTCTTCATCAGCCTCAAC
CTCACCTTCTGTGTCTGCGTGTCCATCGCTGCTGTCCTGCCCAAGGTCCAGGACGCCCAGCCCAACTCGGGTCTGCTGCAGGCCTCGGTCATCACCCTCT
ACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTGRGCAACGAGACAGTTGTGGCAGG
CCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTTCATCAGTCTGCGCTCCTCAGAC
CACCGGCAGGTGAACAGCCTGATGCAGACCGAGGAGTGCCCACCTATGCTAGACGCCACACAGCAGCAGCAGCAGCAGGTGGCAGCCTGTGAGGGCCGGG
CCTTTGACAACGAGCAGGACGGCGTCACCTACAGCTACTCCTTCTTCCACTTCTGCCTGGTGCTGGCCTCACTGCACGTCATGATGACGCTCACCAACTG
GTACAAGCCCGGTGAGACCCGGAAGATGATCAGCACGTGGACCGCCGTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGGCTGCTCCTCTACCTGTGGACC
CTGGTAGCCCCACTCCTCCTGCGCAACCGCGACTTCAGCTGAGGCAGCCTCACAGCCTGCCATCTGGTGCCTCCTGCCACCTGGTGCCTCTCGGCTCGGT
GACAGCCAACCTGCCCCCTCCCCACACCAATCAGCCAGGCTGAGCCCCCACCCCTGCCCCAGCTCCAGGACCTGCCCCTGAGCCGGGCCTTCTAGTCGTA
GTGCCTTCAGGGTCCGAGGAGCATCAGGCTCCTGCAGAGCCCCATCCCCCCGCCACACCCACACGGTGGAGCTGCCTCTTCCTTCCCCTCCTCCCTGTTG
CCCATACTCAGCATCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCAT
CCGGCACTGAAGCCCTGGTGTTCCTGGTCACKTCCCCCAGGGGACCCTGCCCBCTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATA
AACAARCCAGTGCGTGTAC

Protein Sequence    (SEQ ID NO:978):
MGAEGAPDFLSCPRVRRASCLCGSAPCILCSCCPASRNSTVSRLIFTFFLFLGVLVSIIMLSPGVESQLYKLPWVCEEGAGIPTVLQGHIDCGSLLGYRA
VYRMCFATAAFFFFFTLLMLCVSSSRDPRAAIQNGFWFFKFLILVGLTVGAFYIPDGSFTNIWFYFGVVGSFLFILIQLVLLIDFAHSWNQRWLGKAEEC
DSRAWYAGLFFFTLLFYLLSIAAVALMFMYYTEPSGCHEGKVFISLNLTFCVCVSIAAVLPKVQDAQPNSGLLQASVITLYTMFVTWSALSSIPEQKCNP
HLPTQLGNETVVAGPEGYETQWWDAPSIVGLIIFLLCTLFISLRSSDHRQVNSLMQTEECPPMLDATQQQQQQVAACEGRAFDNEQDGVTYSYSFFHFCL
VLASLHVMMTLTNWYKPGETRKMISTWTAVWVKICASWAGLLLYLWTLVAPLLLRNRDFS


SNP Information

Context             (SEQ ID NO:5232):
GCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACAT
Y
CCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACT
Celera SNP ID:            hCV25972959
SNP Position Transcript:  621
SNP Source:               Applera
Population(Allele,Count): african american(T,16)   caucasian(C,10|T,16)   total(C,10|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 154, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 154, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5233):
CCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTT
Y
GCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTA
Celera SNP ID:            hCV25971423
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 106, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:5234):
GCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTG
R
GCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTT
Celera SNP ID:            hCV161389
SNP Position Transcript:  1078
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:978, 307, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5235):
GTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCC
R
CATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTG
Celera SNP ID:            hCV27471739
SNP Position Transcript:  425
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:978, 89, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5236):
GTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCAT
Y
GACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCT
Celera SNP ID:            hCV164266
SNP Position Transcript:  708
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,39|C,698)   total(C,698|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 183, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5237):
ATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGG
Y
GTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCG
Celera SNP ID:            hCV25964895
SNP Position Transcript:  660
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26|T,2)   total(C,61|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 167, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5238):
GTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGC
R
GCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGA
Celera SNP ID:            hCV11266470
SNP Position Transcript:  486
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,31)   total(A,6|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 109, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;JBIC-allele(A,263|G,1028)   total(G,1028|A,263)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:978, 109, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:5239):
GAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCC
B
CTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV26048539
SNP Position Transcript:  1953
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:978, None   



Context             (SEQ ID NO:5240):
CCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCAC
K
TCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV7441968
SNP Position Transcript:  1932
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:978, None   



Context             (SEQ ID NO:5241):
ACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAA
R
CCAGTGCGTGTAC
Celera SNP ID:            hCV28966114
SNP Position Transcript:  2006
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:978, None   



Gene Number:                 101
Celera Gene:                 hCG20042 - 206000041550871
Celera Transcript:           hCT2340523 - 206000041550907
Public Transcript Accession: NM_018565
Celera Protein:              hCP1907106 - 206000041550837
Public Protein Accession:    NP_061035
Gene Symbol:                 TDE2
Protein Name:                tumor differentially expressed protein 2;FKSG84;PRO0899
Celera Genomic Axis:         GA_x5YUV32W802(51716887..51741590)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:282):
CCGAAGCCGGGAGCCGCCGCCATGGGGGCCTGCCTGGGAGCCTGCTCCCTGCTCAGCTGCGTGAGTCCCGACCCCGGCGCCCGCCCGCGCGCGCCGCCCG
TTCCTGCTGCGGGCCCTCACTTTCTTCTGTTCTGCTCCGAGTAGTTTCTTCTTTTTCCTTCCTGCAAACTTGTCTTTCTGGGCCGGTGCCCCGCCTGCTC
GCCCTCCTGGACCTTCACTCGGCACCCGGATCCCGCTGCCCCCGTCCCCCTGCTCAGTCCTGGCCGGCAGGCGCCGGGCAGCTGCGGTCCCGGCTCGGGT
TTCCGCGGGCAGGAGGGGAGTGCCCTCGGCGGGCGCCCTCCTGGGACCTGGAGAGACTAAGCCTGGAGCCCGGGGTCGGGGCAGCTCTGTGGGCCCTCGT
CGCCCCACTTGGGGCGGTCCTCGGGGTGGCCTCTGTCCCCGTCCCGGACGCCCTGGTTCTCTGTGCGTCCTGCCTCTGCGGCTCTGCCCCCTGCATCCTG
TGCAGCTGCTGCCCCGCCAGCCGCAACTCCACCGTGAGCCGCCTCATCTTCACGTTCTTCCTCTTCCTGGGGGTGCTGGTGTCCATCATTATGCTGAGCC
CGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCRCATCGACTGTGGCTCCCTGCT
TGGCTACCGCGCTGTCTACCGCATGTGCTTYGCCACGGCRGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGG
GCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATYCCTGACGGCTCCTTCACCAACATCT
GGTTCTACTTCGGYGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATYGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAA
GGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCTACTTGCTGTCGATCGCGGCCGTGGCGCTGATGTTCATG
TACTACACTGAGCCCAGCGGCTGCCACGAGGGCAAGGTCTTCATCAGCCTCAACCTCACCTTCTGTGTCTGCGTGTCCATCGCTGCTGTCCTGCCCAAGG
TCCAGGACGCCCAGCCCAACTCGGGTCTGCTGCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACA
GAAATGCAACCCCCATTTGCCAACCCAGCTGRGCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTG
GGCCTCATCATCTTCCTCCTGTGCACCCTCTTCATCAGTCTGCGCTCCTCAGACCACCGGCAGGTGAACAGCCTGATGCAGACCGAGGAGTGCCCACCTA
TGCTAGACGCCACACAGCAGCAGCAGCAGCAGGTGGCAGCCTGTGAGGGCCGGGCCTTTGACAACGAGCAGGACGGCGTCACCTACAGCTACTCCTTCTT
CCACTTCTGCCTGGTGCTGGCCTCACTGCACGTCATGATGACGCTCACCAACTGGTACAAGCCCGGTGAGACCCGGAAGATGATCAGCACGTGGACCGCC
GTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGGCTGCTCCTCTACCTGTGGACCCTGGTAGCCCCACTCCTCCTGCGCAACCGCGACTTCAGCTGAGGCA
GCCTCACAGCCTGCCATCTGGTGCCTCCTGCCACCTGGTGCCTCTCGGCTCGGTGACAGCCAACCTGCCCCCTCCCCACACCAATCAGCCAGGCTGAGCC
CCCACCCCTGCCCCAGCTCCAGGACCTGCCCCTGAGCCGGGCCTTCTAGTCGTAGTGCCTTCAGGGTCCGAGGAGCATCAGGCTCCTGCAGAGCCCCATC
CCCCCGCCACACCCACACGGTGGAGCTGCCTCTTCCTTCCCCTCCTCCCTGTTGCCCATACTCAGCATCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCT
CCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACKTCCCCCAGGGGACC
CTGCCCBCTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAARCCAGTGCGTGTAC

Protein Sequence    (SEQ ID NO:979):
MLSPGVESQLYKLPWVCEEGAGIPTVLQGHIDCGSLLGYRAVYRMCFATAAFFFFFTLLMLCVSSSRDPRAAIQNGFWFFKFLILVGLTVGAFYIPDGSF
TNIWFYFGVVGSFLFILIQLVLLIDFAHSWNQRWLGKAEECDSRAWYAGLFFFTLLFYLLSIAAVALMFMYYTEPSGCHEGKVFISLNLTFCVCVSIAAV
LPKVQDAQPNSGLLQASVITLYTMFVTWSALSSIPEQKCNPHLPTQLGNETVVAGPEGYETQWWDAPSIVGLIIFLLCTLFISLRSSDHRQVNSLMQTEE
CPPMLDATQQQQQQVAACEGRAFDNEQDGVTYSYSFFHFCLVLASLHVMMTLTNWYKPGETRKMISTWTAVWVKICASWAGLLLYLWTLVAPLLLRNRDF
S


SNP Information

Context             (SEQ ID NO:5242):
GCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACAT
Y
CCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACT
Celera SNP ID:            hCV25972959
SNP Position Transcript:  875
SNP Source:               Applera
Population(Allele,Count): african american(T,16)   caucasian(C,10|T,16)   total(C,10|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 95, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 95, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5243):
CCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTT
Y
GCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTA
Celera SNP ID:            hCV25971423
SNP Position Transcript:  731
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 47, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:5244):
GCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTG
R
GCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTT
Celera SNP ID:            hCV161389
SNP Position Transcript:  1332
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:979, 248, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5245):
GTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCC
R
CATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTG
Celera SNP ID:            hCV27471739
SNP Position Transcript:  679
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:979, 30, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5246):
GTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCAT
Y
GACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCT
Celera SNP ID:            hCV164266
SNP Position Transcript:  962
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,39|C,698)   total(C,698|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 124, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5247):
ATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGG
Y
GTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCG
Celera SNP ID:            hCV25964895
SNP Position Transcript:  914
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26|T,2)   total(C,61|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 108, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5248):
GTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGC
R
GCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGA
Celera SNP ID:            hCV11266470
SNP Position Transcript:  740
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,31)   total(A,6|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 50, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;JBIC-allele(A,263|G,1028)   total(G,1028|A,263)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:979, 50, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:5249):
GAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCC
B
CTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV26048539
SNP Position Transcript:  2207
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:979, None   



Context             (SEQ ID NO:5250):
CCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCAC
K
TCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV7441968
SNP Position Transcript:  2186
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:979, None   



Context             (SEQ ID NO:5251):
ACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAA
R
CCAGTGCGTGTAC
Celera SNP ID:            hCV28966114
SNP Position Transcript:  2260
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:979, None   



Gene Number:                 101
Celera Gene:                 hCG20042 - 206000041550871
Celera Transcript:           hCT1953985 - 206000041550900
Public Transcript Accession: NM_018565
Celera Protein:              hCP1766370 - 206000041550840
Public Protein Accession:    NP_061035
Gene Symbol:                 TDE2
Protein Name:                tumor differentially expressed protein 2;FKSG84;PRO0899
Celera Genomic Axis:         GA_x5YUV32W802(51716887..51741627)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:283):
ATCCCGAGGTCCGCGCCCCGCGCCCGGCGCCGGGCGCCCGAAGCCGGGAGCCGCCGCCATGGGGGCCTGCCTGGGAGCCTGCTCCCTGCTCAGCTGCGCG
TCCTGCCTCTGCGGCTCTGCCCCCTGCATCCTGTGCAGCTGCTGCCCCGCCAGCCGCAACTCCACCGTGAGCCGCCTCATCTTCACGTTCTTCCTCTTCC
TGGGGGTGCTGGTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGT
CCTGCAGGGCCRCATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTYGCCACGGCRGCCTTCTTCTTCTTTTTCACCCTGCTC
ATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCT
TCTACATYCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGYGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATYGACTT
TGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCTACTTG
CTGTCGATCGCGGCCGTGGCGCTGATGTTCATGTACTACACTGAGCCCAGCGGCTGCCACGAGGGCAAGGTCTTCATCAGCCTCAACCTCACCTTCTGTG
TCTGCGTGTCCATCGCTGCTGTCCTGCCCAAGGTCCAGGACGCCCAGCCCAACTCGGGTCTGCTGCAGGCCTCGGTCATCACCCTCTACACCATGTTTGT
CACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTGRGCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTAT
GAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTTCATCAGTCTGCGCTCCTCAGACCACCGGCAGGTGA
ACAGCCTGATGCAGACCGAGGAGTGCCCACCTATGCTAGACGCCACACAGCAGCAGCAGCAGCAGGTGGCAGCCTGTGAGGGCCGGGCCTTTGACAACGA
GCAGGACGGCGTCACCTACAGCTACTCCTTCTTCCACTTCTGCCTGGTGCTGGCCTCACTGCACGTCATGATGACGCTCACCAACTGGTACAAGCCCGGT
GAGACCCGGAAGATGATCAGCACGTGGACCGCCGTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGGCTGCTCCTCTACCTGTGGACCCTGGTAGCCCCAC
TCCTCCTGCGCAACCGCGACTTCAGCTGAGGCAGCCTCACAGCCTGCCATCTGGTGCCTCCTGCCACCTGGTGCCTCTCGGCTCGGTGACAGCCAACCTG
CCCCCTCCCCACACCAATCAGCCAGGCTGAGCCCCCACCCCTGCCCCAGCTCCAGGACCTGCCCCTGAGCCGGGCCTTCTAGTCGTAGTGCCTTCAGGGT
CCGAGGAGCATCAGGCTCCTGCAGAGCCCCATCCCCCCGCCACACCCACACGGTGGAGCTGCCTCTTCCTTCCCCTCCTCCCTGTTGCCCATACTCAGCA
TCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGC
CCTGGTGTTCCTGGTCACKTCCCCCAGGGGACCCTGCCCBCTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAARCCAGTGC
GTGTAC

Protein Sequence    (SEQ ID NO:980):
MGACLGACSLLSCASCLCGSAPCILCSCCPASRNSTVSRLIFTFFLFLGVLVSIIMLSPGVESQLYKLPWVCEEGAGIPTVLQGHIDCGSLLGYRAVYRM
CFATAAFFFFFTLLMLCVSSSRDPRAAIQNGFWFFKFLILVGLTVGAFYIPDGSFTNIWFYFGVVGSFLFILIQLVLLIDFAHSWNQRWLGKAEECDSRA
WYAGLFFFTLLFYLLSIAAVALMFMYYTEPSGCHEGKVFISLNLTFCVCVSIAAVLPKVQDAQPNSGLLQASVITLYTMFVTWSALSSIPEQKCNPHLPT
QLGNETVVAGPEGYETQWWDAPSIVGLIIFLLCTLFISLRSSDHRQVNSLMQTEECPPMLDATQQQQQQVAACEGRAFDNEQDGVTYSYSFFHFCLVLAS
LHVMMTLTNWYKPGETRKMISTWTAVWVKICASWAGLLLYLWTLVAPLLLRNRDFS


SNP Information

Context             (SEQ ID NO:5252):
GCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACAT
Y
CCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACT
Celera SNP ID:            hCV25972959
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(T,16)   caucasian(C,10|T,16)   total(C,10|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 150, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 150, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5253):
CCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTT
Y
GCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTA
Celera SNP ID:            hCV25971423
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 102, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:5254):
GCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTG
R
GCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTT
Celera SNP ID:            hCV161389
SNP Position Transcript:  965
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:980, 303, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5255):
GTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCC
R
CATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTG
Celera SNP ID:            hCV27471739
SNP Position Transcript:  312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:980, 85, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5256):
GTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCAT
Y
GACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCT
Celera SNP ID:            hCV164266
SNP Position Transcript:  595
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,39|C,698)   total(C,698|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 179, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5257):
ATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGG
Y
GTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCG
Celera SNP ID:            hCV25964895
SNP Position Transcript:  547
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26|T,2)   total(C,61|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 163, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5258):
GTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGC
R
GCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGA
Celera SNP ID:            hCV11266470
SNP Position Transcript:  373
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,31)   total(A,6|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 105, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;JBIC-allele(A,263|G,1028)   total(G,1028|A,263)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:980, 105, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:5259):
GAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCC
B
CTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV26048539
SNP Position Transcript:  1840
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:980, None   



Context             (SEQ ID NO:5260):
CCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCAC
K
TCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV7441968
SNP Position Transcript:  1819
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:980, None   



Context             (SEQ ID NO:5261):
ACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAA
R
CCAGTGCGTGTAC
Celera SNP ID:            hCV28966114
SNP Position Transcript:  1893
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:980, None   



Gene Number:                 101
Celera Gene:                 hCG20042 - 206000041550871
Celera Transcript:           hCT2340522 - 206000041550884
Public Transcript Accession: NM_018565
Celera Protein:              hCP1907107 - 206000041550839
Public Protein Accession:    NP_061035
Gene Symbol:                 TDE2
Protein Name:                tumor differentially expressed protein 2;FKSG84;PRO0899
Celera Genomic Axis:         GA_x5YUV32W802(51716887..51740091)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:284):
CCACAGTGGACCTGATTTCCATCGGTTGCACCTGGTGAGGCACAGGCCCTGCTGGGCTGGCCTGGGGGTGGAGATGTTGAGGGGCAGCCTGCCAGCCCTG
TGTGCCTTGGTCACCCCATCTGGCAGTTGACAGTAACAGGGCCTTTCTCACAATGCTGTTGGGAGATGAGGCACAGTTCCTGGCATATCGTGAGTGCTCC
TTGTGGGAATTATTGCTAACATCAAGGAAAGGCGTCCTGCCTCTGCGGCTCTGCCCCCTGCATCCTGTGCAGCTGCTGCCCCGCCAGCCGCAACTCCACC
GTGAGCCGCCTCATCTTCACGTTCTTCCTCTTCCTGGGGGTGCTGGTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCT
GGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCRCATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTYGC
CACGGCRGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAG
TTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATYCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGYGTCGTGGGCTCCTTCCTCT
TCATCCTCATCCAGCTGGTGCTGCTCATYGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGC
AGGCCTCTTCTTCTTCACTCTCCTCTTCTACTTGCTGTCGATCGCGGCCGTGGCGCTGATGTTCATGTACTACACTGAGCCCAGCGGCTGCCACGAGGGC
AAGGTCTTCATCAGCCTCAACCTCACCTTCTGTGTCTGCGTGTCCATCGCTGCTGTCCTGCCCAAGGTCCAGGACGCCCAGCCCAACTCGGGTCTGCTGC
AGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTGRG
CAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTTC
ATCAGTCTGCGCTCCTCAGACCACCGGCAGGTGAACAGCCTGATGCAGACCGAGGAGTGCCCACCTATGCTAGACGCCACACAGCAGCAGCAGCAGCAGG
TGGCAGCCTGTGAGGGCCGGGCCTTTGACAACGAGCAGGACGGCGTCACCTACAGCTACTCCTTCTTCCACTTCTGCCTGGTGCTGGCCTCACTGCACGT
CATGATGACGCTCACCAACTGGTACAAGCCCGGTGAGACCCGGAAGATGATCAGCACGTGGACCGCCGTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGG
CTGCTCCTCTACCTGTGGACCCTGGTAGCCCCACTCCTCCTGCGCAACCGCGACTTCAGCTGAGGCAGCCTCACAGCCTGCCATCTGGTGCCTCCTGCCA
CCTGGTGCCTCTCGGCTCGGTGACAGCCAACCTGCCCCCTCCCCACACCAATCAGCCAGGCTGAGCCCCCACCCCTGCCCCAGCTCCAGGACCTGCCCCT
GAGCCGGGCCTTCTAGTCGTAGTGCCTTCAGGGTCCGAGGAGCATCAGGCTCCTGCAGAGCCCCATCCCCCCGCCACACCCACACGGTGGAGCTGCCTCT
TCCTTCCCCTCCTCCCTGTTGCCCATACTCAGCATCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGA
ACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACKTCCCCCAGGGGACCCTGCCCBCTTCCTGGACTTCGTGCCTTACTGAG
TCTCTAAGACTTTTTCTAATAAACAARCCAGTGCGTGTAC

Protein Sequence    (SEQ ID NO:981):
MLSPGVESQLYKLPWVCEEGAGIPTVLQGHIDCGSLLGYRAVYRMCFATAAFFFFFTLLMLCVSSSRDPRAAIQNGFWFFKFLILVGLTVGAFYIPDGSF
TNIWFYFGVVGSFLFILIQLVLLIDFAHSWNQRWLGKAEECDSRAWYAGLFFFTLLFYLLSIAAVALMFMYYTEPSGCHEGKVFISLNLTFCVCVSIAAV
LPKVQDAQPNSGLLQASVITLYTMFVTWSALSSIPEQKCNPHLPTQLGNETVVAGPEGYETQWWDAPSIVGLIIFLLCTLFISLRSSDHRQVNSLMQTEE
CPPMLDATQQQQQQVAACEGRAFDNEQDGVTYSYSFFHFCLVLASLHVMMTLTNWYKPGETRKMISTWTAVWVKICASWAGLLLYLWTLVAPLLLRNRDF
S


SNP Information

Context             (SEQ ID NO:5262):
GCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACAT
Y
CCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACT
Celera SNP ID:            hCV25972959
SNP Position Transcript:  642
SNP Source:               Applera
Population(Allele,Count): african american(T,16)   caucasian(C,10|T,16)   total(C,10|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 95, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 95, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5263):
CCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTT
Y
GCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTA
Celera SNP ID:            hCV25971423
SNP Position Transcript:  498
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 47, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:5264):
GCAGGCCTCGGTCATCACCCTCTACACCATGTTTGTCACCTGGTCAGCCCTATCCAGTATCCCTGAACAGAAATGCAACCCCCATTTGCCAACCCAGCTG
R
GCAACGAGACAGTTGTGGCAGGCCCCGAGGGCTATGAGACCCAGTGGTGGGATGCCCCGAGCATTGTGGGCCTCATCATCTTCCTCCTGTGCACCCTCTT
Celera SNP ID:            hCV161389
SNP Position Transcript:  1099
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:981, 248, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5265):
GTGTCCATCATTATGCTGAGCCCGGGCGTGGAGAGTCAGCTCTACAAGCTGCCCTGGGTGTGTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCC
R
CATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGCGGCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTG
Celera SNP ID:            hCV27471739
SNP Position Transcript:  446
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:981, 30, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5266):
GTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGGCGTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCAT
Y
GACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCGATTCCCGTGCCTGGTACGCAGGCCTCTTCTTCTTCACTCTCCTCTTCT
Celera SNP ID:            hCV164266
SNP Position Transcript:  729
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,39|C,698)   total(C,698|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 124, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:5267):
ATGGGTTTTGGTTCTTTAAGTTCCTGATCCTGGTGGGCCTCACCGTGGGTGCCTTCTACATTCCTGACGGCTCCTTCACCAACATCTGGTTCTACTTCGG
Y
GTCGTGGGCTCCTTCCTCTTCATCCTCATCCAGCTGGTGCTGCTCATCGACTTTGCGCACTCCTGGAACCAGCGGTGGCTGGGCAAGGCCGAGGAGTGCG
Celera SNP ID:            hCV25964895
SNP Position Transcript:  681
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26|T,2)   total(C,61|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 108, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5268):
GTGAGGAGGGGGCCGGGATCCCCACCGTCCTGCAGGGCCACATCGACTGTGGCTCCCTGCTTGGCTACCGCGCTGTCTACCGCATGTGCTTCGCCACGGC
R
GCCTTCTTCTTCTTTTTCACCCTGCTCATGCTCTGCGTGAGCAGCAGCCGGGACCCCCGGGCTGCCATCCAGAATGGGTTTTGGTTCTTTAAGTTCCTGA
Celera SNP ID:            hCV11266470
SNP Position Transcript:  507
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,31)   total(A,6|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 50, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,7)      total(G,7|A,4) ;JBIC-allele(A,263|G,1028)   total(G,1028|A,263)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:981, 50, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:5269):
GAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCC
B
CTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV26048539
SNP Position Transcript:  1974
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:981, None   



Context             (SEQ ID NO:5270):
CCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCAC
K
TCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTAC
Celera SNP ID:            hCV7441968
SNP Position Transcript:  1953
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:981, None   



Context             (SEQ ID NO:5271):
ACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAA
R
CCAGTGCGTGTAC
Celera SNP ID:            hCV28966114
SNP Position Transcript:  2027
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:981, None   



Gene Number:                 102
Celera Gene:                 hCG2004204 - 117000147098527
Celera Transcript:           hCT2290131 - 117000147098528
Public Transcript Accession: NM_018406
Celera Protein:              hCP1882944 - 197000069426208
Public Protein Accession:    NP_060876
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32UVRL(1238..27629)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:285):
GAGGGGACGGGCTCACGTCTGCTCCTCACACTGCAGCTGCTGGGCCGTGGAGCTTCCCCAGGGAGCCAGGGGGACTTTTGCCGCAGCCATGAAGGGGGCA
CGCTGGAGGAGGGTCCCCTGGGTGTCCCTGAGCTGCCTGTGTCTCTGCCTCCTTCCGCATGTGGTCCCAGGAACCACAGAGGACACATTAATAACTGGAA
GTAAAACTSCTGCCCCAGTCACCTCAACAGGCTCAACAACAGCGACACTAGAGGGACAATCAACTGCAGCTTCTTCAAGGACCTCTAATCAGGACATATC
AGCTTCATCTCAGAACCACCAGACTAAGAGCACGGAGACCACCAGCAAAGCTCAAACCGACACCCTCACGCAGATGATGACATCAACTCTTTTTTCTTCC
CCAAGTGTACACAATGTGATGGAGACTGTTACGCAGGAGACAGCTCCTCCAGATGAAATGACCACATCATTTCCCTCCAGTGTCACCAACACACTCATGA
TGACATCAAAGACTATAACAATGACAACCTCCACAGACTCCACTCTTGGAAACACAGAAGAGACATCAACAGCAGGAACTGAAAGTTCTACCCCAGTGAC
CTCAGCAGTCTCAATAACAGCTGGACAGGAAGGACAATCACGAAMAACTTCCTGGAGGACCTCTATCCAAGACACATCAGCTTCTTCTCAGAACCACTGG
ACTCGGAGCACGCAGACCACCAGGGAATCTCAAACCAGCACCCTAACACACAGAACCACTTCAACTCCTTCTTTCTCTCCAAGTGTACACAATGTGACAG
GGACTGTTTCTCAGAAGACATCTCCTTCAGGTGAAACAGCTACCTCATCCCTCTGTAGTGTCACAAACACATCCATGATGACATCAGAGAAGATAACAGT
GACAACCTCCACAGGCTCCACTCTTGGAAACCCAGGGGAGACATCATCAGTACCTGTTACTGGAAGTCTTATGCCAGTCACCTCAGCAGCCTTAGTAACA
KTTGATCCAGAAGGACAATCACCAGCAACTTTCTCAAGGACTTCTMCTCAGGACACAACAGCTTTTTCTAAGAACCACCAGACTCAGAGCGTGGAGACCA
CCAGAGTATCTCAAATCAACACCCTCAACACCCTCACACCGGTTACAACATCAACTGTTTTATCCTCACCAAGTGGATTCAACCCAAGTGGAACAGTTTC
TCAGGAGACATTCCCTTCTGGTGAAACAACCAYCTCATCCCCTTCCAGTGTCAGCAATACATTCCTGGTAACATCAAAGGTGTTCAGAATGCCAAYCTCC
AGAGACTCTACTCTTGGAAACACAGAGGAGACATCACTATCTGTAAGTGGAACCATTTCTGCAATCACTTCCAAAGTTTCAACCATATGGTGGTCAGACA
CTCTGTCAACAGCACTCTCCCCCAGTTCTYTACCTCCAAAAATATCCACAGCTTTCCACACCCAGCAGAGTGAAGGTGCAGAGACCACAGGACRGCCTCA
TGAGAGGAGCTCATTCTCTCCAGGTGTGTCTCAAGAAATATTTACTCTACATGAAACAACAACATGGCCTTCCTCATTCTCCAGCAAAGGCCACACAACT
TGGTCACAAACAGAACTGCCCTCAACATCAACAGGTGCTGCCACTAGGCTTGTCACAGGAAATCCATCTACAGGGRCAGCTGGCACTATTCCAAGGGTCC
CCTCTAAGGTCTCAGCAATAGGGGAACCAGGAGAGCCCACCACATACTCCTCCCACAGCACAACTCTCCCAAAAACAACAGGGGCAGGCGCCCAGACACA
ATGGACACAAGAAACGGGGACCACTGGAGAGGCTCTTCTCAGCAGCCCAAGCTACAGTGTGACTCAGATGATAAAAACGGCCACATCCCCATCTTCTTCA
CCTATGCTGGATAGACACACATCMCAACAAATTACAACGGCACCATCAACAAATCATTCAACAATACATTCCACAAGCACCTCTCCTCAGGAATCACCAG
CTGTTTCCCAAAGGGGTCACACTCAAGCCCCGCAGACCACACAAGAATCACAAACCACGAGGTCCGTCTMCCCCATGACTGACACCAAGACAGTCACCAC
CCCAGGTTCTTCCTTCACAGCCAGTGGGCACTCGCCCTCAGAAATTGTTCCTCAGGACGCACCCACCATAAGTGCAGCAACAACCTTTGCCCCAGCTCCC
ACCGGGGATGGTCACACAACCCAGGCCCCGACCACAGCACTGCAGGCARCACCCAGCAGCCATGATGCCACCCTGGGGCCCTCAGGAGGCACGTCACTTT
CCAAAACAGGTGCCCTTACTCTGGCCAACTCTGTAGTGTCAACACCAGGGGGCCCAGAAGGACAATGGACATCAGCCTCTGCCAGCACCTCACCTGACAC
AGCAGCAGCCATGACCCATACCCACCAGGCTGAGAGCACAGAGGCCTCTGGACAAACACAGACCAGCGAACCGGCCTCCTCAGGGTCACGAACCACCTCA
GCGGGCACAGCTACCCCTTCCTCATCCGGGGCGAGTGGCACAACACCTTCAGGAAGCGAAGGAATATCCACCTCAGGAGAGACGACAAGGTTTTCATCAA
ACCCCTCCAGGGACAGTCACACAACCCAGTCAACAACCGAATTGCTGTCCGCCTCAGCCAGTCATGGTGCCATCCCAGTAAGCACAGGAATGGCGTCTTC
GATCGTCCCCGGCACCTTTCATCCCACCCTCTCTGAGGCCTCCACTGCAGGGAGACCGACAGGACAGTCAAGCCCAACTTCTCCCAGTGCCTCTCCTCAG
GAGACAGCCGCCATTTCCCGGATGGCCCAGACTCAGAGGACAAGAACCAGCAGAGGGTCTGACACTATCAGCCTGGCGTCCCAGGCAACCGACACCTTCT
CAACAGTCCCACCCACACCTCCATCGATCACATCCASTGGGCTTACATCTCCACAAACCCAGACCCACACTCTGTCACCTTCAGGGTCTGGTAAAACCTT
CACCACGGCCCTCATCAGCAACGCCACCCCTCTTCCTGTCACCTACGCTTCCTCGGCATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACTTCC
TCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGG
CATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAG

Protein Sequence    (SEQ ID NO:982):
MKGARWRRVPWVSLSCLCLCLLPHVVPGTTEDTLITGSKTPAPVTSTGSTTATLEGQSTAASSRTSNQDISASSQNHQTKSTETTSKAQTDTLTQMMTST
LFSSPSVHNVMETVTQETAPPDEMTTSFPSSVTNTLMMTSKTITMTTSTDSTLGNTEETSTAGTESSTPVTSAVSITAGQEGQSRTTSWRTSIQDTSASS
QNHWTRSTQTTRESQTSTLTHRTTSTPSFSPSVHNVTGTVSQKTSPSGETATSSLCSVTNTSMMTSEKITVTTSTGSTLGNPGETSSVPVTGSLMPVTSA
ALVTVDPEGQSPATFSRTSTQDTTAFSKNHQTQSVETTRVSQINTLNTLTPVTTSTVLSSPSGFNPSGTVSQETFPSGETTISSPSSVSNTFLVTSKVFR
MPISRDSTLGNTEETSLSVSGTISAITSKVSTIWWSDTLSTALSPSSLPPKISTAFHTQQSEGAETTGRPHERSSFSPGVSQEIFTLHETTTWPSSFSSK
GHTTWSQTELPSTSTGAATRLVTGNPSTGAAGTIPRVPSKVSAIGEPGEPTTYSSHSTTLPKTTGAGAQTQWTQETGTTGEALLSSPSYSVTQMIKTATS
PSSSPMLDRHTSQQITTAPSTNHSTIHSTSTSPQESPAVSQRGHTQAPQTTQESQTTRSVSPMTDTKTVTTPGSSFTASGHSPSEIVPQDAPTISAATTF
APAPTGDGHTTQAPTTALQAAPSSHDATLGPSGGTSLSKTGALTLANSVVSTPGGPEGQWTSASASTSPDTAAAMTHTHQAESTEASGQTQTSEPASSGS
RTTSAGTATPSSSGASGTTPSGSEGISTSGETTRFSSNPSRDSHTTQSTTELLSASASHGAIPVSTGMASSIVPGTFHPTLSEASTAGRPTGQSSPTSPS
ASPQETAAISRMAQTQRTRTSRGSDTISLASQATDTFSTVPPTPPSITSSGLTSPQTQTHTLSPSGSGKTFTTALISNATPLPVTYASSASTGDTTPLPV
TDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSX


SNP Information

Context             (SEQ ID NO:5272):
TCAGACACTCTGTCAACAGCACTCTCCCCCAGTTCTCTACCTCCAAAAATATCCACAGCTTTCCACACCCAGCAGAGTGAAGGTGCAGAGACCACAGGAC
R
GCCTCATGAGAGGAGCTCATTCTCTCCAGGTGTGTCTCAAGAAATATTTACTCTACATGAAACAACAACATGGCCTTCCTCATTCTCCAGCAAAGGCCAC
Celera SNP ID:            hCV29195679
SNP Position Transcript:  1494
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 469, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:5273):
TCCACAAGCACCTCTCCTCAGGAATCACCAGCTGTTTCCCAAAGGGGTCACACTCAAGCCCCGCAGACCACACAAGAATCACAAACCACGAGGTCCGTCT
M
CCCCATGACTGACACCAAGACAGTCACCACCCCAGGTTCTTCCTTCACAGCCAGTGGGCACTCGCCCTCAGAAATTGTTCCTCAGGACGCACCCACCATA
Celera SNP ID:            hCV27511356
SNP Position Transcript:  2070
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,22|C,1475)   total(A,22|C,1475) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 661, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:5274):
AGGACAAGAACCAGCAGAGGGTCTGACACTATCAGCCTGGCGTCCCAGGCAACCGACACCTTCTCAACAGTCCCACCCACACCTCCATCGATCACATCCA
S
TGGGCTTACATCTCCACAAACCCAGACCCACACTCTGTCACCTTCAGGGTCTGGTAAAACCTTCACCACGGCCCTCATCAGCAACGCCACCCCTCTTCCT
Celera SNP ID:            hCV26667372
SNP Position Transcript:  2937
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 950, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:5275):
TCCTCAGGACGCACCCACCATAAGTGCAGCAACAACCTTTGCCCCAGCTCCCACCGGGGATGGTCACACAACCCAGGCCCCGACCACAGCACTGCAGGCA
R
CACCCAGCAGCCATGATGCCACCCTGGGGCCCTCAGGAGGCACGTCACTTTCCAAAACAGGTGCCCTTACTCTGGCCAACTCTGTAGTGTCAACACCAGG
Celera SNP ID:            hCV27473348
SNP Position Transcript:  2249
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,135|G,1326)   total(G,1326|A,135) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 721, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:5276):
GAGGGTCCCCTGGGTGTCCCTGAGCTGCCTGTGTCTCTGCCTCCTTCCGCATGTGGTCCCAGGAACCACAGAGGACACATTAATAACTGGAAGTAAAACT
S
CTGCCCCAGTCACCTCAACAGGCTCAACAACAGCGACACTAGAGGGACAATCAACTGCAGCTTCTTCAAGGACCTCTAATCAGGACATATCAGCTTCATC
Celera SNP ID:            hCV27456767
SNP Position Transcript:  209
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 41, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5277):
GACATCACTATCTGTAAGTGGAACCATTTCTGCAATCACTTCCAAAGTTTCAACCATATGGTGGTCAGACACTCTGTCAACAGCACTCTCCCCCAGTTCT
Y
TACCTCCAAAAATATCCACAGCTTTCCACACCCAGCAGAGTGAAGGTGCAGAGACCACAGGACGGCCTCATGAGAGGAGCTCATTCTCTCCAGGTGTGTC
Celera SNP ID:            hCV11976023
SNP Position Transcript:  1430
SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(T,7|C,49)   Chinese(T,0|C,20)   Japanese(T,3|C,37)   African(T,19|C,41)      total(C,147|T,29) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)   JBIC-allele(T,71|C,660)   total(C,660|T,71)   Caucasian(T,7|C,49)   African-American(T,19|C,41)   no_pop(T,-|C,-)   Asians(T,3|C,57)   total(C,147|T,29)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 448, (L,CTA)   (L,TTA)      448, (L,TTA)   (L,CTA)      



Context             (SEQ ID NO:5278):
CTGGAGAGGCTCTTCTCAGCAGCCCAAGCTACAGTGTGACTCAGATGATAAAAACGGCCACATCCCCATCTTCTTCACCTATGCTGGATAGACACACATC
M
CAACAAATTACAACGGCACCATCAACAAATCATTCAACAATACATTCCACAAGCACCTCTCCTCAGGAATCACCAGCTGTTTCCCAAAGGGGTCACACTC
Celera SNP ID:            hCV27455332
SNP Position Transcript:  1924
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)   JBIC-allele(C,271|A,1222)   total(A,1222|C,271) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:982, 612, (S,TCA)   (S,TCC)      612, (S,TCC)   (S,TCA)      



Context             (SEQ ID NO:5279):
GTTTCTCAGGAGACATTCCCTTCTGGTGAAACAACCATCTCATCCCCTTCCAGTGTCAGCAATACATTCCTGGTAACATCAAAGGTGTTCAGAATGCCAA
Y
CTCCAGAGACTCTACTCTTGGAAACACAGAGGAGACATCACTATCTGTAAGTGGAACCATTTCTGCAATCACTTCCAAAGTTTCAACCATATGGTGGTCA
Celera SNP ID:            hCV26667378
SNP Position Transcript:  1296
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)   Caucasian(C,13|T,71)   African-American(C,12|T,72)   no_pop(T,-|C,-)   Asians(C,14|T,64)   total(C,39|T,207)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 403, (I,ATC)   (T,ACC)      403, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:5280):
CTCACACCGGTTACAACATCAACTGTTTTATCCTCACCAAGTGGATTCAACCCAAGTGGAACAGTTTCTCAGGAGACATTCCCTTCTGGTGAAACAACCA
Y
CTCATCCCCTTCCAGTGTCAGCAATACATTCCTGGTAACATCAAAGGTGTTCAGAATGCCAATCTCCAGAGACTCTACTCTTGGAAACACAGAGGAGACA
Celera SNP ID:            hCV9712022
SNP Position Transcript:  1233
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,232|T,1047)   total(C,232|T,1047)no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 382, (I,ATC)   (T,ACC)      382, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:5281):
CTTGGAAACACAGAAGAGACATCAACAGCAGGAACTGAAAGTTCTACCCCAGTGACCTCAGCAGTCTCAATAACAGCTGGACAGGAAGGACAATCACGAA
M
AACTTCCTGGAGGACCTCTATCCAAGACACATCAGCTTCTTCTCAGAACCACTGGACTCGGAGCACGCAGACCACCAGGGAATCTCAAACCAGCACCCTA
Celera SNP ID:            hCV2394241
SNP Position Transcript:  645
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 186, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:5282):
GACAACCTCCACAGGCTCCACTCTTGGAAACCCAGGGGAGACATCATCAGTACCTGTTACTGGAAGTCTTATGCCAGTCACCTCAGCAGCCTTAGTAACA
K
TTGATCCAGAAGGACAATCACCAGCAACTTTCTCAAGGACTTCTACTCAGGACACAACAGCTTTTTCTAAGAACCACCAGACTCAGAGCGTGGAGACCAC
Celera SNP ID:            hCV9712023
SNP Position Transcript:  1001
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 305, (V,GTT)   (F,TTT)      



Context             (SEQ ID NO:5283):
ATCAGTACCTGTTACTGGAAGTCTTATGCCAGTCACCTCAGCAGCCTTAGTAACAGTTGATCCAGAAGGACAATCACCAGCAACTTTCTCAAGGACTTCT
M
CTCAGGACACAACAGCTTTTTCTAAGAACCACCAGACTCAGAGCGTGGAGACCACCAGAGTATCTCAAATCAACACCCTCAACACCCTCACACCGGTTAC
Celera SNP ID:            hCV27497283
SNP Position Transcript:  1046
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 320, (T,ACT)   (P,CCT)      



Context             (SEQ ID NO:5284):
ATTCTCCAGCAAAGGCCACACAACTTGGTCACAAACAGAACTGCCCTCAACATCAACAGGTGCTGCCACTAGGCTTGTCACAGGAAATCCATCTACAGGG
R
CAGCTGGCACTATTCCAAGGGTCCCCTCTAAGGTCTCAGCAATAGGGGAACCAGGAGAGCCCACCACATACTCCTCCCACAGCACAACTCTCCCAAAAAC
Celera SNP ID:            hCV16269689
SNP Position Transcript:  1676
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIG-allele(A,164|G,767)   total(G,767|A,164)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:982, 530, (T,ACA)   (A,GCA)      530, (A,GCA)   (T,ACA)      



Gene Number:                 103
Celera Gene:                 hCG2005669 - 209000071835812
Celera Transcript:           hCT2292596 - 209000071835848
Public Transcript Accession: NM_001242
Celera Protein:              hCP1900568 - 209000071835802
Public Protein Accession:    NP_001233
Gene Symbol:                 TNFRSF7
Protein Name:                tumor necrosis factor receptor superfamily, member 7;CD27;MGC20393;S152;T14;Tp55
Celera Genomic Axis:         GA_x5YUV32W234(6500556..6507434)
Chromosome:                  Chr12
OMIM number:                 186711
OMIM Information:            TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 7;TNFRSF7


Transcript Sequence (SEQ ID NO:286):
CAGCAGGTCTCACAGAGTTTGCTCTTTAATACTCTCCCCAGCACACGGAAGGGGAAGGGGGTGGAGGTTGCTGCTATGAGAGAGAAAAAAAAAACAGCCA
CAATAGAGATTCTGCCTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCAGGGGGTGCAAAGAAGAGACAGCAGYGCCCAGCTTGGAGGTGCTAA
CTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTGTGYGTTCTGGGGACCCT
GGTGGGGCTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTGAGCCAGGAACATTC
CTCGTGAAGGACTGTGACCAGCATAGAAAGRCTGCTCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCACTGTG
AGAGCTGTCGGCACTGTAACTCTGGTCTTCTCGTTCGCAACTGCACCATCACTGCCAATGCTGAGTGTGCCTGTCGCAATGGCTGGCAGTGCAGGGACAA
GGAGTGCACCGAGTGTGATCCTCTTCCAAACCCTTCGCTGACCGCTCGGTCGTCTCAGGCCCTGAGCCCACACCCTCAGCCCACCCACTTACCTTATGTC
AGTGAGATGCTGGAGGCCAGGACAGCTGGGCACATGCAGACTCTGGCTGACTTCAGGCAGCTGCCTGCCCGGACTCTCTCTACCCACTGGCCACCCCAAA
GATCCCTGTGCAGCTCCGATTTTATTCGCATCCTTGTGATCTTCTCTGGAATGTTCCTTGTTTTCACCCTGGCCGGGGCCCTGTTCCTCCATCAACGAAG
GAAATATAGATCAAACAAAGGAGAAAGTCCTGTGGAGCCTGCAGAGCCTTGTCRTTACAGCTGCCCCAGGGAGGAGGAGGGCAGCACCATCCCCATCCAG
GAGGATTACCGAAAACCGGAGCCTGCCTGCTCCCCCTGAGCCAGCACCTGCGGKAGCTGCACTACAGCCCTGGCCTCCACCCCCACCCCGCCGACCATCC
AAGGGAGAGTGAGACCTGGCAGCCACAACTGCAGTCCCATCCTCTTGTCAGGGCCCTTTCCTGTGTACACGTGACAGAGTGCCTTTTCGAGACTGGCAGG
GACGAGGACAAATATGGATGAGGTGGAGAGTGGGAAGCAGGAGCCCAGCCAGCTGCGCCTGCGCTGCAGGAGGGCGGGGGCTCTGGTTGTAAAACACACT
TCCTGCTGCGAAAGACCCACATGCTACAAGACGGGCAAAATAAAGTGACAGATGACCACCCTGC

Protein Sequence    (SEQ ID NO:983):
MARPHPWWLCVLGTLVGLSATPAPKSCPERHYWAQGKLCCQMCEPGTFLVKDCDQHRKAAQCDPCIPGVSFSPDHHTRPHCESCRHCNSGLLVRNCTITA
NAECACRNGWQCRDKECTECDPLPNPSLTARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTLSTHWPPQRSLCSSDFIRILVIFSGMF
LVFTLAGALFLHQRRKYRSNKGESPVEPAEPCRYSCPREEEGSTIPIQEDYRKPEPACSP


SNP Information

Context             (SEQ ID NO:5285):
GAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTGAGCCAGGAACATTCCTCGTGAAGGACTGTGACCAGCATAGAAAG
R
CTGCTCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCACTGTGAGAGCTGTCGGCACTGTAACTCTGGTCTTCT
Celera SNP ID:            hCV590601
SNP Position Transcript:  431
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,8|G,32)   total(A,16|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:983, 59, (T,ACT)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;Caucasian(A,24|G,60)   African-American(A,10|G,74)   no_pop(A,-|G,-)   Asians(G,82)   total(G,216|A,34)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:983, 59, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5286):
TTCCTTGTTTTCACCCTGGCCGGGGCCCTGTTCCTCCATCAACGAAGGAAATATAGATCAAACAAAGGAGAAAGTCCTGTGGAGCCTGCAGAGCCTTGTC
R
TTACAGCTGCCCCAGGGAGGAGGAGGGCAGCACCATCCCCATCCAGGAGGATTACCGAAAACCGGAGCCTGCCTGCTCCCCCTGAGCCAGCACCTGCGGG
Celera SNP ID:            hCV16248281
SNP Position Transcript:  954
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,19)   total(A,1|G,51)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:983, 233, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:983, 233, (H,CAT)   (R,CGT)      233, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:5287):
GCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTGTG
Y
GTTCTGGGGACCCTGGTGGGGCTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTG
Celera SNP ID:            hCV25603944
SNP Position Transcript:  286
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:983, 10, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:5288):
GTTACAGCTGCCCCAGGGAGGAGGAGGGCAGCACCATCCCCATCCAGGAGGATTACCGAAAACCGGAGCCTGCCTGCTCCCCCTGAGCCAGCACCTGCGG
K
AGCTGCACTACAGCCCTGGCCTCCACCCCCACCCCGCCGACCATCCAAGGGAGAGTGAGACCTGGCAGCCACAACTGCAGTCCCATCCTCTTGTCAGGGC
Celera SNP ID:            hCV2981226
SNP Position Transcript:  1054
SNP Source:               Applera
Population(Allele,Count): african american(G,17|T,3)   caucasian(G,9|T,5)   total(G,26|T,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:983, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,6)      total(G,6|T,1) ;JBIC-allele(G,363|T,380)   total(G,363|T,380)   no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:983, None   



Context             (SEQ ID NO:5289):
GAGAGAAAAAAAAAACAGCCACAATAGAGATTCTGCCTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCAGGGGGTGCAAAGAAGAGACAGCAG
Y
GCCCAGCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGG
Celera SNP ID:            hCV25603948
SNP Position Transcript:  180
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:983, None



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294724 - 146000219766365
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793771 - 197000064926412
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42710126..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:287):
AGGCATCACGCTGGCTTTTGCCTGGGGTTCTCAGGAGGGGAGAGTTGGGAGAGGCTTTGCTGCTGAGGAAATTTATTTGGTAGATTGAAGGTTTGAACGA
GAGCTACAGAAACGAAAGAAAAAGTCTGTATAAGCCAATGGTGTTCGGGAAGAAAATAACCCCATTGCCTTGAGTTTGTAGGTGCCACTACTACTCTGGA
AAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGACAATAACAAAAATTTATG
AGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGT
GGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCAAAT
AAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCA
GTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAGRCTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCA
AGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTSAACTTGTCCAGGCCGTTAAGAACACC
GCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGG
CCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCYGATCCTCCAGATATAGAATTTGCCAA
GAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAAT
GCCAGAATGAATGCTGRTAACATTAGCACAGTTAAGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAG
AGTATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAAGGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCC
TGCTTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCAGGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGC
ATAAATTACTGCGAGACCCCCAAATTCAAGCTCGATACTGTTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGG
GACATTATGTAGGCAGCTTCGAGGATCCATACCATTCACACTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGA
CAGAGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAATATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGAT
AAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAA
GTGAAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGCTTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTG
GGAGAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGATGCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAG
AAAGACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCCTCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTG
ATAGATTATACAAGGAAAACTATGAGAAGACAAAGGCAAAGAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAG
TGAGGCTAGATATAAAGACTTATATGTAAAGGATGTTTTGGGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCT
CAAAACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAGATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGC
TGGACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGATAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACAC
GAAACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAAGGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTC
AATGCCTATAATCTGAGTGATAATGTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAG
CCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCC
AAAGATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGTGATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGAT
ATGCTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTGCCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCA
ATGTGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGATGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGG
GTCCTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGAT
GCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCAC
CAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGA
CCTGAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAA
ATGGTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGGTTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGA
AGACAAAGTCCAAATACAACACGCCCCATGATATGTTCAATGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCT
CCATCATTACACCTACTTGCCTGACGCCATGGACCTGGAGCTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAAC
TGGATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCGACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATC
CAGACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGG
AGAAGATGTGAAACATAAATACACCATGAGTMCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGG
GATTGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAAT
ACAAGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGGTTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCA
GTCTGATCGTGAATACAAGAAGAACTATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGAT
GTCGCTACCAATGTCAACTACAAACARCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGA
GTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGA
TGCATTAAATGASAGGAAGTATCGACAGCACCCAGATACCRTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAG
CAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACG
CCCTCAACATGAGTGATGCTCATTATAAAGCAGATTGGAAGAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAA
AAGTTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAGGCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAA
CTGGTTCACTACATGAATGTGGCCAAAATCCAGTCTGATCGTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGG
TCAGTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCACCAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGT
GGAGCACTCCAGGAATGCCATGCAGATTCAGAGTGATAATCTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCC
CTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAA
TGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGA
CACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTG
AGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACA
TTGSCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATC
CAAGACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCAT
ACCTACAACATGCTTCCYGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCA
TGAAGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGA
CACTTTGAAGYATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAG
GCTGACAAAACCAAAGTCCACATCATGCCTGATATCCCCCAGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCT
TGGAAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAA
GTACAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCT
GATCGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACA
TCACCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGA
TAATGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATAT
GCCAGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCA
TGAACAAGCATTTATACACCATTGATTGGAATAAAGATAAGACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAAC
ACTGTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCT
TCAAGAGACATTGCTAGTGATTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTG
TGTTGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGG
AGTGGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTG
CAAGCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGG
CAGAAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATAT
AGTTCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCT
GACATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTG
ATGCCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGC
CCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACC
AAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGA
CATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCAT
TGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAG
TTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAA
CCACTGTCCACATTATGCCAGATACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGC
CAAGAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTAT
CGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGT
ACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGT
GGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTAC
AAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGYCCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAA
TCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGTGACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTT
ATACACAGAAGCCTGGGACAAAGACAAGACTCAGATCCACATAATGCCAGACACACCAGAAATTATGTTGGCAAGAATGAACAAAATCAACTACAGTGAG
ACTCTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAGGCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTA
TCAGTGATTACAAATACAAAGATGGTTACCGCAAGCAGCTCGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCA
TGTGGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCC
AAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGG
CCTATGACCTCCAGAGCGATAACATTTACAAATCTGATCTCCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAA
GAGAGCTGCTGAAATACTGAGTGATAACATCTACCGCCAGCCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAG
AACAATGCTCTCAATATGAACAAGCGCTTATACACAGAAGCCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGG
CAAGACAAAATAAAATAAATTATAGTGAGAGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCAT
TGTGGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACAC
GATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCC
CAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGA
CCAGAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCG
ATTGATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAA
CGGACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGT
CATGCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGC
TATGACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCAAGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTG
GCCACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTT
TGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCAT
CCCCTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTG
AGTGGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCC
TGCAGRCCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCT
TGGGATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCA
AGGGATGGGATGAATCAAAGATGAAGGACTATGATCTGAGAGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAA
ATACAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATTGGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATT
CAAAGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGAAAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGA
CTTTGGTCACTGACATTGATTATCGCAATTACCTGCATGAATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCA
GAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAAT
ATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAA
ATATTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGC
TCTTAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCC
TCCAGGGAGATTGCCAGTGACTATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCC
GCTGGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTC
CATCCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATT
CAGGCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCG
TCAATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTA
TGTGACAGCGAAACAAAGTGGCGAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTG
CTGCACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATG
CTGTGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCC
GACGATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAA
ATCAATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGT
GTCATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGG
CTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCT
AACTTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAA
AGGGCAAATATACGTTTTCACCAGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGG
CACCAAGGCCTATGGCTACACCCTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACA
TATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGA
ACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGA
CCTGGAGTATCGACACTATTTCCACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTG
TATAAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGC
TACAATATACAGCAGCAGGTAAAGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAG
TGAGGTAAAATATAAAGAAAATTATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTT
TACAGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGA
AGCATCTGGCCAGCCATATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACG
GTGCCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATG
GTTACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACG
TCAGGAAAGTCACAGATCAGATCAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCT
CCATGCCAAGCATGCTTATGATCTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTC
TACGTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAA
CCGTGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGG
TGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACA
CTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGA
TCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGG
CCACATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTG
AAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGA
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
SAAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAA
CTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACA
AGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACG
CTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAA
ATAAAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCA
GTGATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCT
CTACAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACT
CAATTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCG
CAGGCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTAC
AAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTG
CATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATA
TCAAAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACC
GGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGAT
GACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTAC
CTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATA
CACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGA
AAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAG
AGAACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCG
CAAGGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAAT
TTCGATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAAT
ACAAGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTA
CCAGTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGT
ATAGTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGC
AGAGTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGC
AACTAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGA
GCAAAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTC
CGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGA
TACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTT
TTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAG
TTGTTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGG
AAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTG
CCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGA
TTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAG
AGTCAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAA
CACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATC
AAGAAAACATTAGCTCGGTGTTATACAAAGAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAA
CTTTAGCTCGGTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGC
TCGGTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGC
ACATCTCAACGGTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACAT
GCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYA
CGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGC
GCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGAC
TTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAG
ACAACGGTATCTTCCATCCCATCTCATCCATCKACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCA
AGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTA
CGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAG
TTCTCAAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAA
AAGCTTCTGCAATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAA
CACATTAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAA
TACAAACCAGCAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:984):
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTVKKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSI
NYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDK
TKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKK
DYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQ
NSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVN
AYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDM
LQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDA
PITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKM
VGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNW
MKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRD
WHDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDV
ATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQ
LSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKL
VHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESL
EVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLR
PDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHT
YNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEA
DKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSD
REYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYA
SDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKAS
RDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQ
AKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPD
IVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTK
FSSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKF
SSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYR
KQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYK
SDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKINYSET
LYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAK
KCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKN
NALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHD
DPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPI
DSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGY
DLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHP
LHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAW
DADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQ
SEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNI
FCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKAS
REIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQ
AKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLL
HTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKI
NIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPN
FRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETY
EKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVY
KDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLY
SSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMV
TAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVY
VQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTL
GPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLK
GFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVEL
ATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKI
KYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQ
LMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLH
VRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDD
KNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGK
SNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENF
DKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSI
VKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRA
KNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVL
DTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLP
EVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLPVTPEMERVKH
NQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISS
VLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLR
VWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQT
TVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5290):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  10184
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 3327, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5291):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  8045
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2614, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2614, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5292):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  8524
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2774, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5293):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  15869
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5222, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5294):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  16688
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5495, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5495, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5295):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  16823
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5540, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5296):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  16959
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5586, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5297):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  20033
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 6610, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 6610, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5298):
ATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAG
R
CTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACAC
Celera SNP ID:            hCV26039982
SNP Position Transcript:  639
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,13)      total(G,1|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 146, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5299):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  4677
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1492, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1492, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5300):
TGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCT
S
AACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAG
Celera SNP ID:            hCV25627718
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,3|G,37)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 191, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:5301):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  3417
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1072, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1072, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5302):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  4641
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1480, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5303):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  5387
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1728, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5304):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  19699
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6499, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5305):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  15181
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4993, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5306):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  11206
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 3668, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5307):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  4613
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1470, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5308):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  5704
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1834, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5309):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  4427
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1408, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5310):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  20180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 6659, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5311):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  13756
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4518, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5312):
GCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGC
Y
GATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTG
Celera SNP ID:            hCV453653
SNP Position Transcript:  974
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,14)   caucasian(C,28|T,2)   total(C,30|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 257, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 257, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5313):
GTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAGTTAAGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 305, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5314):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  5918
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1905, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5315):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  6111
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1970, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1970, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5316):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  3287
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1028, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1028, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5317):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  16896
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5565, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5318):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  19842
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6547, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6547, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6547, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5319):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  17247
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5682, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5320):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  20428
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:984, None   



Context             (SEQ ID NO:5321):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  15701
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5166, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5322):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  7720
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2506, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5323):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  15295
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5031, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5031, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5324):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  8672
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2823, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2823, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5325):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  8798
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2865, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2865, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5326):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  17066
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 5621, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5327):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  5576
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1791, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1791, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5328):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  4032
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1277, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5329):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  8278
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2692, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5330):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  18598
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6132, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5331):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  18614
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 6137, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5332):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  13397
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 4398, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 4398, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5333):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  8852
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2883, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 2883, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5334):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  12014
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 3937, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 3937, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5335):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  4107
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1302, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 1302, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5336):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  11865
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 3888, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5337):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  4478
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1425, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 1425, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5338):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  12407
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 4068, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:984, 4068, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5339):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  13408
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4402, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4402, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5340):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  13534
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4444, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5341):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  13626
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4475, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5342):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  17273
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 5690, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5343):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  13018
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 4272, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5344):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  19774
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 6524, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5345):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  8940
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2913, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2913, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5346):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  7516
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:984, 2438, (Q,CAG)   (R,CGG)   



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294726 - 146000219766674
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793773 - 197000064926414
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42908198..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:288):
ATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTACAGCAAGGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATT
TCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAATTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGA
TAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAGGCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCA
AAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACA
AGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGT
ATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAG
AAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAAT
ATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCT
GAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCT
GAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCA
AGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTAT
GGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGAACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCC
ACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAAGGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAA
TGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTCGATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCA
GCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACAAGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAG
TCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCAGTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATAC
CCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATAGTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCT
GGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGA
AACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCA
TCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCT
GGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAG
TATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGA
AAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAG
CCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTGTTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAAT
TTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCT
CGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTAT
GTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAA
GAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACA
TGGGCAAGGGAACTCCTTTASCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAA
AGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCTCGGTGTTATACAAAGAGAACCTGGGGAAAGCAACC
CCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCGGTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGACAC
CTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCGGTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGC
CTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAACGGTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGC
TTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAG
AAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGA
AGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGTGGG
GGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATGCAA
AAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATCKACTGCTGGAAAAATCTT
CCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATG
TATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTT
ACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTCAAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTAC
CATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAAC
ATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGC
TAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAAACCAGCAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:985):
MPMIPLISLWLKRTRLSTARYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKS
KDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYK
KQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVS
ENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKA
TQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKE
SLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGR
NLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIK
YKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKN
FSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYK
ENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKAT
PTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGC
FTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSG
GEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWM
YGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5347):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  4178
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:985, None   



Context             (SEQ ID NO:5348):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  438
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 146, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 146, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5349):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  573
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 191, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5350):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  709
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 237, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5351):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  816
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 272, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5352):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  3783
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 1261, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 1261, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5353):
CCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTA
S
CTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCAC
Celera SNP ID:            hCV2057527
SNP Position Transcript:  2821
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,11)   caucasian(C,30|G,8)   total(C,51|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 941, (P,CCT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,5)      total(G,5|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 941, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5354):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  2348
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 783, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5355):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  2364
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 788, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5356):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  3449
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 1150, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5357):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  3930
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:985, 1310, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5358):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  1023
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 341, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5359):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  3524
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 1175, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5360):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  646
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 216, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5361):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  997
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 333, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5362):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  3592
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 1198, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 1198, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:985, 1198, (I,ATC)   (V,GTC)      



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294727 - 146000219767016
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793776 - 197000064926417
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42710126..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:289):
AGGCATCACGCTGGCTTTTGCCTGGGGTTCTCAGGAGGGGAGAGTTGGGAGAGGCTTTGCTGCTGAGGAAATTTATTTGGTAGATTGAAGGTTTGAACGA
GAGCTACAGAAACGAAAGAAAAAGTCTGTATAAGCCAATGGTGTTCGGGAAGAAAATAACCCCATTGCCTTGAGTTTGTAGGTGCCACTACTACTCTGGA
AAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGACAATAACAAAAATTTATG
AGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGT
GGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCAAAT
AAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCA
GTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAGRCTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCA
AGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTSAACTTGTCCAGGCCGTTAAGAACACC
GCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGG
CCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCYGATCCTCCAGATATAGAATTTGCCAA
GAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAAT
GCCAGAATGAATGCTGRTAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGT
ATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAAGGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCCTGC
TTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCAGGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGCATA
AATTACTGCGAGACCCCCAAATTCAAGCTCGATACTGTTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGGGAC
ATTATGTAGGCAGCTTCGAGGATCCATACCATTCACACTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGACAG
AGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAATATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGATAAG
ACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAAGTG
AAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGCTTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTGGGA
GAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGATGCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAA
GACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCCTCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTGATA
GATTATACAAGGAAAACTATGAGAAGACAAAGGCAAAGAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAGTGA
GGCTAGATATAAAGACTTATATGTAAAGGATGTTTTGGGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCTCAA
AACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAGATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGCTGG
ACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGATAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACACGAA
ACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAAGGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTCAAT
GCCTATAATCTGAGTGATAATGTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAGCCA
AAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCCAAA
GATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGTGATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGATATG
CTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTGCCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCAATG
TGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGATGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGGGTC
CTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGATGCT
CCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCACCAG
ACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCT
GAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATG
GTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGGTTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGAAGA
CAAAGTCCAAATACAACACGCCCCATGATATGTTCAATGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCTCCA
TCATTACACCTACTTGCCTGACGCCATGGACCTGGAGCTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAACTGG
ATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCGACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATCCAG
ACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGA
AGATGTGAAACATAAATACACCATGAGTMCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGAT
TGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACA
AGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGGTTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCAGTC
TGATCGTGAATACAAGAAGAACTATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTC
GCTACCAATGTCAACTACAAACARCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGAGTG
ATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGC
ATTAAATGASAGGAAGTATCGACAGCACCCAGATACCRTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAGCAG
CTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACGCCC
TCAACATGAGTGATGCTCATTATAAAGCAGATTGGAAGAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAAAAG
TTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAGGCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAACTG
GTTCACTACATGAATGTGGCCAAAATCCAGTCTGATCGTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGGTCA
GTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCACCAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGTGGA
GCACTCCAGGAATGCCATGCAGATTCAGAGTGATAATCTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCCCTG
GAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAATGG
AACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACAC
ACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTGAGG
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
SCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAA
GACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACC
TACAACATGCTTCCYGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGA
AGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACAC
TTTGAAGYATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCT
GACAAAACCAAAGTCCACATCATGCCTGATATCCCCCAGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCTTGG
AAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAAGTA
CAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGAT
CGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCA
CCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGATAA
TGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCC
AGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGA
ACAAGCATTTATACACCATTGATTGGAATAAAGATAAGACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAACACT
GTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCA
AGAGACATTGCTAGTGATTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGT
TGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGT
GGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAA
GCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAG
AAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGT
TCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGAC
ATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATG
CCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGCCCG
GAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAG
TTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACAT
GCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCATTGG
CTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAGTTT
TCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAACCA
CTGTCCACATTATGCCAGATACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAA
GAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGT
AAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGTACA
AGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGTGGA
CTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAG
TCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGYCCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCT
ATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGTGACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTTATA
CACAGAGGCCTGGGACAAAGACAAGACTCAAATTCACATAATGCCTGATACACCAGAGATTATGTTGGCAAGGCAGAACAAAATCAACTACAGTGAGACT
CTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAGGCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTATCA
GTGATTACAAATACAAAGATGGTTACCGCAAGCAGCTCGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGT
GGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAG
AAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCT
ATGACCTCCAGAGCGATAACATTTACAAATCTGATCTCCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAAGAG
AGCTGCTGAAATACTGAGTGATAACATCTACCGCCAGCCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAGAAC
AATGCTCTCAATATGAACAAGCGCTTATACACAGAAGCCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGGCAA
GACAAAATAAAATAAATTATAGTGAGAGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGT
GGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGAT
GACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCCCAG
TGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCA
GAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATT
GATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGG
ACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGTCAT
GCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGCTAT
GACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCAAGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCC
ACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGA
GAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCC
CTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTGAGT
GGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGC
AGRCCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGG
GATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCAAGG
GATGGGATGAATCAAAGATGAAGGACTATGATCTGAGAGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAAATA
CAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATTGGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATTCAA
AGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGAAAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGACTT
TGGTCACTGACATTGATTATCGCAATTACCTGCATGAATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAG
TGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATC
TTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATA
TTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCT
TAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCC
AGGGAGATTGCCAGTGACTATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCT
GGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCAT
CCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAG
GCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCA
ATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGT
GACAGCGAAACAAAGTGGCGAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTG
CACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTG
TGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGAC
GATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATC
AATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTC
ATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTG
GATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAAC
TTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGG
GCAAATATACGTTTTCACCAGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCAC
CAAGGCCTATGGCTACACCCTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATAT
GAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACT
ACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCT
GGAGTATCGACACTATTTCCACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTAT
AAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTAC
AATATACAGCAGCAGGTAAAGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGA
GGTAAAATATAAAGAAAATTATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTAC
AGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGC
ATCTGGCCAGCCATATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTG
CCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTT
ACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCA
GGAAAGTCACAGATCAGATCAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCA
TGCCAAGCATGCTTATGATCTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTAC
GTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCG
TGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGA
CACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTT
GGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCC
ATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCA
CATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAG
GGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGA
TGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAA
GAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTT
GCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGA
TTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTA
CAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATA
AAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTG
ATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTA
CAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAA
TTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAG
GCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAA
AGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCAT
GTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCA
AAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGA
CTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGAC
AAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTG
ACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACAC
AACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAA
TCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGA
ACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAA
GGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTC
GATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACA
AGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCA
GTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGA
GTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAAC
TAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCA
AAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGG
ATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATAC
TCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTG
GACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTG
TTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAA
GACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCT
GAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTG
AGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGT
CAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTTTACCTGTCACTCCCGAGATGGAAAGAGTCAAACAC
AATCAAGAAAATATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAG
AAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACAT
TAGCTCGGTGTTATACAAAGAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCG
GTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCGGTTCTTT
ATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAAC
GGTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTC
AGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGTGTCTGGC
GTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCG
GGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGAC
GGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTAT
CTTCCATCCCATCTCATCCATCKACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGA
TGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGTTGAAGCT
ATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTCAAGCT
GCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGC
AATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAG
GAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAAACCAG
CAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:986):
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
HDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLD
TPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPE
VKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLPVTPEMERVKHN
QENISSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSV
LYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFS
DINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDG
GVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5363):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  10181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 3326, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5364):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  8042
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2613, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2613, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5365):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  8521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2773, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5366):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  15866
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5221, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5367):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  16685
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5494, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5494, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5368):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  16820
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5539, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5369):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  16956
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5585, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5370):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  20123
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 6640, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 6640, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5371):
ATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAG
R
CTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACAC
Celera SNP ID:            hCV26039982
SNP Position Transcript:  639
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,13)      total(G,1|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 146, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5372):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  4674
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1491, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1491, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5373):
TGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCT
S
AACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAG
Celera SNP ID:            hCV25627718
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,3|G,37)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 191, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:5374):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  3414
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1071, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1071, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5375):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  4638
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1479, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5376):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  5384
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1727, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5377):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  19789
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6529, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5378):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  15178
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4992, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5379):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  11203
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 3667, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5380):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  4610
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1469, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5381):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  5701
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1833, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5382):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1407, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5383):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  20270
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 6689, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5384):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  13753
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4517, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5385):
GCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGC
Y
GATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTG
Celera SNP ID:            hCV453653
SNP Position Transcript:  974
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,14)   caucasian(C,28|T,2)   total(C,30|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 257, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 257, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5386):
GTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAAAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 305, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5387):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  5915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1904, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5388):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  6108
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1969, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1969, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5389):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  3284
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1027, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1027, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5390):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  16893
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5564, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5391):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  19932
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6577, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6577, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6577, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5392):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  17244
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5681, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5393):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  20518
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:986, None   



Context             (SEQ ID NO:5394):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  15698
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5165, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5395):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  7717
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2505, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5396):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  15292
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5030, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5030, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5397):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  8669
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2822, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2822, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5398):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  8795
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2864, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2864, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5399):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  17063
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 5620, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5400):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  5573
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1790, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1790, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5401):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  4029
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1276, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5402):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  8275
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2691, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5403):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  18595
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6131, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5404):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  18611
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 6136, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5405):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  13394
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 4397, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 4397, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5406):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  8849
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2882, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 2882, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5407):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  12011
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 3936, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 3936, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5408):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  4104
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1301, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 1301, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5409):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  11862
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 3887, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5410):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  4475
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1424, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 1424, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5411):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  12404
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 4067, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:986, 4067, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5412):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  13405
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4401, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4401, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5413):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  13531
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4443, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5414):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  13623
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4474, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5415):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  17270
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 5689, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5416):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  13015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 4271, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5417):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  19864
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 6554, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5418):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  8937
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2912, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2912, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5419):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  7513
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:986, 2437, (Q,CAG)   (R,CGG)   



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294723 - 146000219766715
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793774 - 197000064926415
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42734127..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:290):
GACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTGRTAACATTAGCACAGTTAAGAAAT
ACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAA
GGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCCTGCTTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCA
GGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGCATAAATTACTGCGAGACCCCCAAATTCAAGCTCGATACTG
TTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGGGACATTATGTAGGCAGCTTCGAGGATCCATACCATTCACA
CTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGACAGAGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAA
TATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGC
TACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAAGTGAAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGC
TTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGAT
GCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCC
TCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTGATAGATTATACAAGGAAAACTATGAGAAGACAAAGGCAAA
GAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAGTGAGGCTAGATATAAAGACTTATATGTAAAGGATGTTTTG
GGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCTCAAAACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAG
ATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGCTGGACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGA
TAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACACGAAACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAA
GGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTCAATGCCTATAATCTGAGTGATAATGTTTATAAGCAAGACT
GGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAA
GAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCCAAAGATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGT
GATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGATATGCTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTG
CCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCAATGTGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGA
TGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGGGTCCTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATC
CTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGA
GGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTA
CAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCT
GCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGG
TTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGAAGACAAAGTCCAAATACAACACGCCCCATGATATGTTCAA
TGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCTCCATCATTACACCTACTTGCCTGACGCCATGGACCTGGAG
CTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAACTGGATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCG
ACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATCCAGACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGT
TATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGTMCTGATCTT
CCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGG
GCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGG
TTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCAGTCTGATCGTGAATACAAGAAGAACTATGAGAACACCAAA
ACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACARCCATTGCATCATT
ACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAA
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGASAGGAAGTATCGACAGCACCCAGATACC
RTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAAC
TGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACGCCCTCAACATGAGTGATGCTCATTATAAAGCAGATTGGAA
GAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAAAAGTTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAG
GCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAACTGGTTCACTACATGAATGTGGCCAAAATCCAGTCTGATC
GTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGGTCAGTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCAC
CAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGTGGAGCACTCCAGGAATGCCATGCAGATTCAGAGTGATAAT
CTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTA
GTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGA
CAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACC
ATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTA
GAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTGSCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCA
CTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAGACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTG
GTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCCYGATGCCATGAGCTTTGAATTGG
CCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGC
AGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAGYATTCCACACTCATGGACTCGATGAACATG
GTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAACCAAAGTCCACATCATGCCTGATATCCCCC
AGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCTTGGAAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGA
TGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAAGTACAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTC
CGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGATCGGGAGTACAAGAAAAACTATGAGAACACAAAGACCA
GCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCACCAACACTAACTACAAGCACCTGATTCACAAGTACAT
CCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGATAATGAATATAAGCAAGATTACAATGAATGGTACAAAGGG
CTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCCAGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCC
AGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGAACAAGCATTTATACACCATTGATTGGAATAAAGATAA
GACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAACACTGTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAA
GCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCAAGAGACATTGCTAGTGATTATAAATACAAACAAGGCT
ACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGTTGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGA
ATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGTGGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGAC
GTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAAGCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTAT
ATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAA
GAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGA
CTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTG
ATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAAT
TGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATG
CATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGG
CCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCA
GGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAAT
AAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAA
AAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAACCACTGTCCACATTATGCCAGATACCCCTGAAGTTTTATT
AGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCT
ATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATAC
GTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAG
CCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCC
GACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGY
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
GACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTTATACACAGAGGCCTGGGACAAAGACAAGACTCAAATTCAC
ATAATGCCTGATACACCAGAGATTATGTTGGCAAGGCAGAACAAAATCAACTACAGTGAGACTCTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAG
GCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTATCAGTGATTACAAATACAAAGATGGTTACCGCAAGCAGCT
CGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGAC
TTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGA
ACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAACATTTACAAATCTGATCT
CCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAAGAGAGCTGCTGAAATACTGAGTGATAACATCTACCGCCAG
CCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAGAACAATGCTCTCAATATGAACAAGCGCTTATACACAGAAG
CCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGGCAAGACAAAATAAAATAAATTATAGTGAGAGCCTCTATCG
TCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGTGGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTAC
AAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAG
TGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCA
GACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCAGAATGACATCATTCATGCACGGAAAGCCTATGACCTC
CAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATTGATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAG
AATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGGACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTT
AAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGTCATGCCTGATACACCAGAAATCATGTTAGCCAAACTCAAC
CGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGCTATGACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCA
AGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCCACCATATTGGGGCCCGGAACATTAAGGATGACCCGAA
GATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATG
CTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCCCTGCATGAATGGACCTGCCTGCCTGATCAGAATGACG
TCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTGAGTGGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGT
AGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAGRCCAGCTCAAATTCACATGCATTACCGACACTCCG
GAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGATGCTGACAAAACCTCCATCCACGTGATGCCAGACA
CCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCAAGGGATGGGATGAATCAAAGATGAAGGACTATGATCTGAG
AGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAAATACAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATT
GGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATTCAAAGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGA
AAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGACTTTGGTCACTGACATTGATTATCGCAATTACCTGCATGA
ATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGT
GGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACC
TTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGA
TAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGAT
GAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCCAGGGAGATTGCCAGTGACTATAAATATAAGCTTGACC
ATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCTGGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGA
GTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGAC
ATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTT
ACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCAATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAA
AAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGTGACAGCGAAACAAAGTGGCGAGATCCTCGATGATATT
AAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTGCACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGT
ATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTGTGCCATTTGTTCATGCCCATCACTGCAATGACGTTCA
GAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCAT
GCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCA
AGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTCATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGC
CTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACT
AAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAACTTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAG
CCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCACRTATCTC
CCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGRATGAGCGCTACATT
CCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGA
TCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCA
TATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCTGGAGTATCGACACTATTTCCACCAGTGGACGTCTCTT
CTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTATAAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCT
ACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTACAATATACAGCAGCAGGTAAAGAAAATCTACAAAACTA
TAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGAGGTAAAATATAAAGAAAATTATCATCAGATTAAGGAC
AAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTACAGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGA
AAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGCATCTGGCCAGCCATATCAAATATCGGGAAGAATATGA
AAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTGCCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTAC
AGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTTACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTG
ATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCAGGAAAGTCACAGATCAGATCAGCGATATTGTATACAA
GGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCATGCCAAGCATGCTTATGATCTACGTGATGATATCAAG
TATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTACGTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACG
CTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCGTGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCA
GAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTAC
ATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAG
TCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAA
GAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCACATGATCTCTCTGCCATACACACCCCAAGTGATCCAT
TGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGG
TCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGA
ATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACT
CCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACC
AGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGT
TCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCAC
ACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATAAAATACAAGGAGAACTACATGAGCCAGTTGGGTATCT
GGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGG
CATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTACAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACA
AAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAATTGATGAATGAGAAAAAATACAGAGCTGATTATGAGC
AGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAGGCGACCAGATCAGTCAGATCAAATACAGGAAAAACTA
TGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTG
GAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAAT
ACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCT
GGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGC
GATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAG
AAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAA
CCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAG
GAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGA
AACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGAACCTGCATTACACCACAGTGGCTGATCGACCAGACAT
CAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAAGGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCA
GACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTCGATAAAGAAAAGGGCAAGACACCAAAATACAATCCAA
AAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACAAGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGA
CATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCAGTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTAC
CACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATAGTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAA
AACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCAT
TAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTA
GAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAGAAAGAATATA
AGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAG
TCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTT
TCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAA
AGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTGTTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAA
TCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGAC
CACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTA
GCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGT
GTTATACAAAGAAAACATGGGCAAGGGAACCCCTTTACCTGTCACTCCCGAGATGGAAAGAGTCAAACACAATCAAGAAAATATTAGCTCGGTGTTATAC
AAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCTCGGTGTTATACAAAGAAA
ACATGGGCAAGGGAACTCCTTTASCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGG
GAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCTCGGTGTTATACAAAGAGAACCTGGGGAAAGCA
ACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCGGTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGA
CACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCGGTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGC
TGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAACGGTGAAATATCATGAAGACTTTGAGAAACACAAGGGT
TGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGG
TAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGC
AGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGT
GGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATG
CAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATCKACTGCTGGAAGACA
GGGTCTCACTCTATCACCCAGGCTGCAGTGTGGTGGCATGATCACAGCTCGCTGCAGTCTCGACTTCATGGACTCAAGCAATCCTCCAGCCTCAGCCACC
AGAATAGCTAGGACTACAGAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAAT
GTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTC
AAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTCAAGCTGCCTATGGTTTTT
CTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTG
TGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGA
GATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAAACCAGCAACTAATAAAAC
CTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:987):
MNADNISTVKKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
HDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLD
TPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPE
VKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHN
QENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSV
LYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFS
DINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDG
GVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGRQGLTLSPRLQCGGMITARCSLDFMDSSNPPASATRIARTTENLPCHV


SNP Information

Context             (SEQ ID NO:5420):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  9144
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 3026, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5421):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  7005
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2313, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2313, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5422):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  7484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2473, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5423):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  14829
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 4921, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5424):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  15648
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 5194, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 5194, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5425):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  15783
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 5239, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5426):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  15919
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 5285, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5427):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAGACAGGGTCTCACTCTATCACCCAGGCTGCAGTGTGGTGGCATGATCACAGCTCGCTGCAGTCTCGACTTCATGGACTCAAGCAATCCTC
Celera SNP ID:            hCV2057533
SNP Position Transcript:  19086
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 6340, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 6340, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5428):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  3637
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1191, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1191, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5429):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  2377
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 771, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 771, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5430):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  3601
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1179, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5431):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  4347
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1427, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5432):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  18752
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6229, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5433):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  14141
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4692, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5434):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  10166
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 3367, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5435):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  3573
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1169, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5436):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  4664
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1533, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5437):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  19357
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:987, None   



Context             (SEQ ID NO:5438):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  3387
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1107, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5439):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  12716
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4217, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5440):
GACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAGTTAAGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  77
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5441):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  4878
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1604, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5442):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  5071
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1669, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1669, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5443):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  2247
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 727, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 727, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5444):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  15856
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 5264, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5445):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  18895
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6277, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6277, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6277, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5446):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  16207
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 5381, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5447):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  19605
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:987, None   



Context             (SEQ ID NO:5448):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  6680
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2205, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5449):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  14661
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 4865, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5450):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  14255
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4730, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4730, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5451):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  7632
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2522, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2522, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5452):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  7758
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2564, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2564, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5453):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  16026
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 5320, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5454):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  4536
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1490, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1490, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5455):
CCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTA
S
CTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCAC
Celera SNP ID:            hCV2057527
SNP Position Transcript:  18124
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,11)   caucasian(C,30|G,8)   total(C,51|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6020, (P,CCT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,5)      total(G,5|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6020, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5456):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  2992
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 976, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5457):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  7238
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2391, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5458):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  17558
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 5831, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5459):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  17574
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 5836, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5460):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  7812
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2582, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 2582, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5461):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  12357
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 4097, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 4097, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5462):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  10974
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 3636, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 3636, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5463):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  3067
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1001, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 1001, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5464):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  10825
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 3587, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5465):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  3438
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1124, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 1124, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5466):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  11367
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 3767, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:987, 3767, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5467):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  12368
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4101, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4101, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5468):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  12494
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4143, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5469):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  12586
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 4174, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5470):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  16233
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 5389, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5471):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  11978
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 3971, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5472):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  18827
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 6254, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5473):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  7900
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2612, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2612, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5474):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  6476
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:987, 2137, (Q,CAG)   (R,CGG)   



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294728 - 146000219766860
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793775 - 197000064926416
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42710126..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:291):
AGGCATCACGCTGGCTTTTGCCTGGGGTTCTCAGGAGGGGAGAGTTGGGAGAGGCTTTGCTGCTGAGGAAATTTATTTGGTAGATTGAAGGTTTGAACGA
GAGCTACAGAAACGAAAGAAAAAGTCTGTATAAGCCAATGGTGTTCGGGAAGAAAATAACCCCATTGCCTTGAGTTTGTAGGTGCCACTACTACTCTGGA
AAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGACAATAACAAAAATTTATG
AGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGT
GGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCAAAT
AAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCA
GTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAGRCTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCA
AGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTSAACTTGTCCAGGCCGTTAAGAACACC
GCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGG
CCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCYGATCCTCCAGATATAGAATTTGCCAA
GAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAAT
GCCAGAATGAATGCTGRTAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGT
ATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAAGGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCCTGC
TTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCAGGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGCATA
AATTACTGCGAGACCCCCAAATTCAAGCTCGATACTGTTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGGGAC
ATTATGTAGGCAGCTTCGAGGATCCATACCATTCACACTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGACAG
AGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAATATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGATAAG
ACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAAGTG
AAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGCTTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTGGGA
GAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGATGCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAA
GACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCCTCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTGATA
GATTATACAAGGAAAACTATGAGAAGACAAAGGCAAAGAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAGTGA
GGCTAGATATAAAGACTTATATGTAAAGGATGTTTTGGGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCTCAA
AACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAGATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGCTGG
ACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGATAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACACGAA
ACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAAGGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTCAAT
GCCTATAATCTGAGTGATAATGTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAGCCA
AAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCCAAA
GATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGTGATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGATATG
CTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTGCCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCAATG
TGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGATGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGGGTC
CTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGATGCT
CCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCACCAG
ACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCT
GAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATG
GTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGGTTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGAAGA
CAAAGTCCAAATACAACACGCCCCATGATATGTTCAATGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCTCCA
TCATTACACCTACTTGCCTGACGCCATGGACCTGGAGCTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAACTGG
ATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCGACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATCCAG
ACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGA
AGATGTGAAACATAAATACACCATGAGTMCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGAT
TGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACA
AGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGGTTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCAGTC
TGATCGTGAATACAAGAAGAACTATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTC
GCTACCAATGTCAACTACAAACARCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGAGTG
ATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGC
ATTAAATGASAGGAAGTATCGACAGCACCCAGATACCRTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAGCAG
CTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACGCCC
TCAACATGAGTGATGCTCATTATAAAGCAGATTGGAAGAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAAAAG
TTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAGGCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAACTG
GTTCACTACATGAATGTGGCCAAAATCCAGTCTGATCGTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGGTCA
GTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCACCAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGTGGA
GCACTCCAGGAATGCCATGCAGATTCAGAGTGATAATCTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCCCTG
GAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAATGG
AACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACAC
ACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTGAGG
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
SCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAA
GACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACC
TACAACATGCTTCCYGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGA
AGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACAC
TTTGAAGYATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCT
GACAAAACCAAAGTCCACATCATGCCTGATATCCCCCAGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCTTGG
AAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAAGTA
CAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGAT
CGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCA
CCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGATAA
TGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCC
AGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGA
ACAAGCATTTATACACCATTGATTGGAATAAAGATAAGACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAACACT
GTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCA
AGAGACATTGCTAGTGATTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGT
TGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGT
GGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAA
GCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAG
AAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGT
TCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGAC
ATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATG
CCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGCCCG
GAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAG
TTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACAT
GCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCATTGG
CTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAGTTT
TCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAACCA
CTGTCCACATTATGCCAGATACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAA
GAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGT
AAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGTACA
AGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGTGGA
CTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAG
TCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGYCCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCT
ATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGTGACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTTATA
CACAGAGGCCTGGGACAAAGACAAGACTCAAATTCACATAATGCCTGATACACCAGAGATTATGTTGGCAAGGCAGAACAAAATCAACTACAGTGAGACT
CTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAGGCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTATCA
GTGATTACAAATACAAAGATGGTTACCGCAAGCAGCTCGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGT
GGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAG
AAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCT
ATGACCTCCAGAGCGATAACATTTACAAATCTGATCTCCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAAGAG
AGCTGCTGAAATACTGAGTGATAACATCTACCGCCAGCCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAGAAC
AATGCTCTCAATATGAACAAGCGCTTATACACAGAAGCCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGGCAA
GACAAAATAAAATAAATTATAGTGAGAGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGT
GGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGAT
GACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCCCAG
TGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCA
GAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATT
GATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGG
ACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGTCAT
GCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGCTAT
GACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCAAGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCC
ACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGA
GAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCC
CTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTGAGT
GGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGC
AGRCCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGG
GATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCAAGG
GATGGGATGAATCAAAGATGAAGGACTATGATCTGAGAGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAAATA
CAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATTGGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATTCAA
AGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGAAAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGACTT
TGGTCACTGACATTGATTATCGCAATTACCTGCATGAATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAG
TGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATC
TTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATA
TTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCT
TAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCC
AGGGAGATTGCCAGTGACTATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCT
GGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCAT
CCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAG
GCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCA
ATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGT
GACAGCGAAACAAAGTGGCGAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTG
CACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTG
TGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGAC
GATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATC
AATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTC
ATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTG
GATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAAC
TTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGG
GCAAATATACGTTTTCACCAGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCAC
CAAGGCCTATGGCTACACCCTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATAT
GAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACT
ACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCT
GGAGTATCGACACTATTTCCACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTAT
AAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTAC
AATATACAGCAGCAGGTAAAGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGA
GGTAAAATATAAAGAAAATTATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTAC
AGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGC
ATCTGGCCAGCCATATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTG
CCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTT
ACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCA
GGAAAGTCACAGATCAGATCAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCA
TGCCAAGCATGCTTATGATCTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTAC
GTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCG
TGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGA
CACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTT
GGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCC
ATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCA
CATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAG
GGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGA
TGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAA
GAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTT
GCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGA
TTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTA
CAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATA
AAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTG
ATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTA
CAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAA
TTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAG
GCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAA
AGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCAT
GTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCA
AAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGA
CTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGAC
AAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTG
ACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACAC
AACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAA
TCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGA
ACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAA
GGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTC
GATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACA
AGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCA
GTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGA
GTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAAC
TAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCA
AAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGG
ATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATAC
TCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTGTTCAA
GACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACAC
CTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGT
GAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGA
GTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAAC
GCAATCAAGAGAACTTTAGCTCGGTGCTATACAAAGAAAACCTGGGGACAGGAATTCCAATCCCCATCACTCCTGAGATGCAGAGAGTCAAACACAATCA
AGAAAACCTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTTTACCTGTCACTCCCGAGATGGAAAGAGTCAAACACAATCAAGAAAAT
ATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCT
CGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTASCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTT
GTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCTCGGTGTTATACAAA
GAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCGGTATTGTACAAAGAGAACA
TGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCGGTTCTTTATTCTGATAGTTTCCGGAA
ACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAACGGTGAAATATCATGAAGAC
TTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTACCGAG
GTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGTGTCTGGCGTACTAATCCTGGTTCGGT
TTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCC
AGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCT
CAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCC
ATCKACTGCTGGAAGACAGGGTCTCACTCTATCACCCAGGCTGCAGTGTGGTGGCATGATCACAGCTCGCTGCAGTCTCGACTTCATGGACTCAAGCAAT
CCTCCAGCCTCAGCCACCAGAATAGCTAGGACTACAGAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGAT
GGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGTTG
AAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTC
AAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCT
TCTGCAATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACAT
TAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAA
ACCAGCAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:988):
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
HDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQLQYQCDLKNSKGKITVVQD
TPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERV
KRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENI
SSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKE
NLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDF
EKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSAS
ALSVSGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGRQGLTLSPRLQCGGMITARCSLDFMDSSNP
PASATRIARTTENLPCHV


SNP Information

Context             (SEQ ID NO:5475):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  10181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 3326, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5476):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  8042
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2613, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2613, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5477):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  8521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2773, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5478):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  15866
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5221, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5479):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  16685
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5494, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5494, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5480):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  16820
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5539, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5481):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  16956
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5585, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5482):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAGACAGGGTCTCACTCTATCACCCAGGCTGCAGTGTGGTGGCATGATCACAGCTCGCTGCAGTCTCGACTTCATGGACTCAAGCAATCCTC
Celera SNP ID:            hCV2057533
SNP Position Transcript:  20204
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 6667, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 6667, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5483):
ATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAG
R
CTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACAC
Celera SNP ID:            hCV26039982
SNP Position Transcript:  639
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,13)      total(G,1|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 146, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5484):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  4674
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1491, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1491, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5485):
TGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCT
S
AACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAG
Celera SNP ID:            hCV25627718
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,3|G,37)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 191, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:5486):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  3414
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1071, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1071, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5487):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  4638
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1479, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5488):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  5384
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1727, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5489):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  19870
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6556, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5490):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  15178
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4992, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5491):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  11203
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 3667, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5492):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  4610
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1469, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5493):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  5701
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1833, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5494):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  20475
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:988, None   



Context             (SEQ ID NO:5495):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1407, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5496):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  13753
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4517, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5497):
GCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGC
Y
GATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTG
Celera SNP ID:            hCV453653
SNP Position Transcript:  974
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,14)   caucasian(C,28|T,2)   total(C,30|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 257, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 257, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5498):
GTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAAAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 305, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5499):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  5915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1904, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5500):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  6108
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1969, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1969, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5501):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  3284
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1027, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1027, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5502):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  16893
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5564, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5503):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  20013
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6604, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6604, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6604, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5504):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  17244
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5681, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5505):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  20723
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:988, None   



Context             (SEQ ID NO:5506):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  15698
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5165, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5507):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  7717
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2505, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5508):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  15292
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5030, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5030, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5509):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  8669
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2822, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2822, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5510):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  8795
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2864, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2864, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5511):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  17063
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 5620, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5512):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  5573
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1790, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1790, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5513):
CCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTA
S
CTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCAC
Celera SNP ID:            hCV2057527
SNP Position Transcript:  19242
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,11)   caucasian(C,30|G,8)   total(C,51|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6347, (P,CCT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,5)      total(G,5|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6347, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5514):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  4029
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1276, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5515):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  8275
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2691, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5516):
GTGGTTGATACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  18490
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6096, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5517):
AGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  18506
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 6101, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5518):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  13394
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 4397, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 4397, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5519):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  8849
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2882, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 2882, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5520):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  12011
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 3936, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 3936, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5521):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  4104
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1301, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 1301, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5522):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  11862
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 3887, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5523):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  4475
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1424, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 1424, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5524):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  12404
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 4067, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:988, 4067, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5525):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  13405
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4401, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4401, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5526):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  13531
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4443, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5527):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  13623
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4474, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5528):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  17270
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 5689, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5529):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  13015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 4271, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5530):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  19945
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 6581, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5531):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  8937
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2912, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2912, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5532):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  7513
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:988, 2437, (Q,CAG)   (R,CGG)   



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294725 - 146000219766287
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793770 - 197000064926411
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42817456..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:292):
AGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCC
TGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTG
GGTTCCGATTGATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACC
AGTATAACGGACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTA
TTCATGTCATGCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACGCTATCAGCAAGCTTGGGAAGATGTCAAGAT
GACTGGTTATGACCTGCGAGCAGATGCCATTGGGATCCAGCATGCCAAGGCTTCCAGGGATATTGCCAGTGACTATCTGTACAAAACTGCTTATGAGAAA
CAGAAAGGCCATTACATTGGCTGTCGCAGYRCCAAGGAAGACCCTAAACTGGTTTGGGCAGCAAATGTGTTGAAGATGCAGAATGACAGGCTGTACAAAA
AGGCCTACAACGACCACAAAGCSAAGATCTCCATCCCTGTGGACATGGTGTCCATCAGCGCTGCCAAAGAAGGTCAGGCACTGGCAAGTGATGTGGACTA
TCGCCATTACCTGCACCRCTGGTCTTGCTTTCCCGACCAGAATGATGTGATCCAAGCCAGGAAAGCCTACGACCTACAGAGCGAYGCCCTCTACAAGGCT
GACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATC
GGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCCRAAGTACAG
AGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCAATAAACTT
TACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCCAGGGAGATTGCCAGTGACT
ATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCTGGGCCCTCATAGCTGACAA
GCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCTRCACTCTAAAAATTCC
CAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCAAGAAGGCCTACGAAC
TGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCAATCATGCCAAACATGCCGC
GGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGTGACAGCGAAACAAAGTGGC
GAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTGCACACTGCCCAGGAGGCTG
CTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTGTGCCATTTGTTCATGCCCA
TCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATCYTAAG
CTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGATATGG
TGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTCATCCTGACCAGAACGATGT
TATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTGGATCCCACTGGATTCTGTG
GACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAACTTTASAAGTGTGGTGGATC
CTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACC
AGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACC
CTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACT
ACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGA
TACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCTGGAGTATCGACACTATTTC
CACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTATAAAGATGACCTGAATTGGT
TGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTACAATATACAGCAGCAGGTAA
AGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGAGGTAAAATATAAAGAAAAT
TATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTACAGCAGTAACCTGTACAAGG
AGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGCATCTGGCCAGCCATATCAA
ATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTGCCTCCGAGTTGGCAAGCTT
AACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTTACTGCCAAGGATTCCCAGA
AGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCAGGAAAGTCACAGATCAGAT
CAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCATGCCAAGCATGCTTATGAT
CTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTACGTGCAGGCTGTCAAAAGTG
GGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCGTGGATCTGGACCGGGCCCT
TCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACAC
ATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCAT
TTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCCATACAACTCCCGATACCCC
TGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCACATGATCTCTCTGCCATAC
ACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGT
ATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGATGCGAGACAAATACAAAGT
GGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAAGAAGCAGAAGTCAATCTTT
ACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCC
ATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAA
AGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTACAAAGAAACATTTCAAAAG
ACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATAAAATACAAGGAGAACTACA
TGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGATGTAAAATATAAAGAAGA
CTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTACAGCAAGTATAAGTATAAA
GAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAATTGATGAATGAGAAAAAAT
ACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAGGCGACCAGATCAGTCAGAT
CAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAAAGTCAACAAACAAATCAGC
GATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCATGTCCGCAAGGTTAAAGATG
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
YAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGACTTCCTCCAGGCTGCCAAG
TCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCC
TCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCT
GGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGG
GACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGC
TGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGAACCTGCATTACACCACAGT
GGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAAGGAAGGCAGCCATGGCTTA
AGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTCGATAAAGAAAAGGGCAAGA
CACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACAAGGCTGACCTGAAGAAACT
TCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCAGTACAAGAAGAAGTATGAG
AAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATAGTGAAATACAAAGAAAAGT
ATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGGAAAGAATATAGGAA
AGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAGAAA
GAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCC
TCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAA
TGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATACTCCAGAGATCATTCATGCC
CAACAAGTCAAGAATCTTTCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTGGACACCCCAGAGATACAGA
GAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTGTTCAAGACACRCCAGAAAT
ACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGA
GTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGG
AGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCA
AGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAAT
ATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCT
CGGTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCA
CATCTCAACGGTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATG
CAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYAC
GTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCG
CCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACT
TACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGA
CAACGGTATCTTCCATCCCATCTCATCCATCKACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAA
GGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTAC
GTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGT
TCTCAAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAA
AGCTTCTGCAATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAAC
ACATTAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAAT
ACAAACCAGCAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:989):
MLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDT
PEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHY
IGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDALYKADLEWL
RGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGW
DEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVS
DMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDD
IKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFE
HAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRV
TKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERY
IPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTS
LLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIK
DKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRL
YRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDI
KYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTR
YMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVI
HCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPD
TPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKY
HTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFER
TKSDFKYVADSPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYK
LEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQ
SDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHV
KEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGR
PDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGH
YHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKD
LEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKN
LSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQ
DHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVL
YKENVGKATATPVTPEMQRVKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSD
INYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDGG
VFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5533):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  4947
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 1644, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5534):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  5766
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 1917, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 1917, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5535):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  5901
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 1962, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5536):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  6037
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2008, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5537):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  8832
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 2939, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 2939, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5538):
TGGGATCCAGCATGCCAAGGCTTCCAGGGATATTGCCAGTGACTATCTGTACAAAACTGCTTATGAGAAACAGAAAGGCCATTACATTGGCTGTCGCAGC
R
CCAAGGAAGACCCTAAACTGGTTTGGGCAGCAAATGTGTTGAAGATGCAGAATGACAGGCTGTACAAAAAGGCCTACAACGACCACAAAGCCAAGATCTC
Celera SNP ID:            hCV16184036
SNP Position Transcript:  631
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 206, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:5539):
GTCGCAGCGCCAAGGAAGACCCTAAACTGGTTTGGGCAGCAAATGTGTTGAAGATGCAGAATGACAGGCTGTACAAAAAGGCCTACAACGACCACAAAGC
S
AAGATCTCCATCCCTGTGGACATGGTGTCCATCAGCGCTGCCAAAGAAGGTCAGGCACTGGCAAGTGATGTGGACTATCGCCATTACCTGCACCACTGGT
Celera SNP ID:            hCV16184037
SNP Position Transcript:  723
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 236, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:5540):
AAAGCCAAGATCTCCATCCCTGTGGACATGGTGTCCATCAGCGCTGCCAAAGAAGGTCAGGCACTGGCAAGTGATGTGGACTATCGCCATTACCTGCACC
R
CTGGTCTTGCTTTCCCGACCAGAATGATGTGATCCAAGCCAGGAAAGCCTACGACCTACAGAGCGACGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGT
Celera SNP ID:            hCV16184038
SNP Position Transcript:  818
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 268, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:5541):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  8498
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2828, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5542):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  4259
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 1415, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5543):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  8979
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 2988, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5544):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  2834
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 940, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5545):
CAAGTGATGTGGACTATCGCCATTACCTGCACCACTGGTCTTGCTTTCCCGACCAGAATGATGTGATCCAAGCCAGGAAAGCCTACGACCTACAGAGCGA
Y
GCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGTCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTT
Celera SNP ID:            hCV27505229
SNP Position Transcript:  885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 290, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:5546):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  5974
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 1987, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5547):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  8641
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2876, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2876, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2876, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5548):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  6325
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2104, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5549):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  9227
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:989, None   



Context             (SEQ ID NO:5550):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  4779
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 1588, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5551):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  4373
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 1453, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 1453, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5552):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  6144
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 2043, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5553):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  7676
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2554, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5554):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  7692
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 2559, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5555):
TTGGGATCCAGCATGCCAAGGCTTCCAGGGATATTGCCAGTGACTATCTGTACAAAACTGCTTATGAGAAACAGAAAGGCCATTACATTGGCTGTCGCAG
Y
GCCAAGGAAGACCCTAAACTGGTTTGGGCAGCAAATGTGTTGAAGATGCAGAATGACAGGCTGTACAAAAAGGCCTACAACGACCACAAAGCCAAGATCT
Celera SNP ID:            hCV16184029
SNP Position Transcript:  630
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 205, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:5556):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  2475
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 820, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 820, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5557):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  1092
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 359, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 359, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5558):
TGATGTGATCCAAGCCAGGAAAGCCTACGACCTACAGAGCGACGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  943
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 310, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5559):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  1485
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 490, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:989, 490, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5560):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  2486
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 824, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 824, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5561):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  2612
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 866, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5562):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  2704
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 897, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5563):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  6351
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2112, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5564):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  8573
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 2853, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5565):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  2096
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:989, 694, (P,CCT)   (L,CTT)      



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294729 - 146000219763134
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793769 - 197000064926410
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42710126..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:293):
AGGCATCACGCTGGCTTTTGCCTGGGGTTCTCAGGAGGGGAGAGTTGGGAGAGGCTTTGCTGCTGAGGAAATTTATTTGGTAGATTGAAGGTTTGAACGA
GAGCTACAGAAACGAAAGAAAAAGTCTGTATAAGCCAATGGTGTTCGGGAAGAAAATAACCCCATTGCCTTGAGTTTGTAGGTGCCACTACTACTCTGGA
AAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGACAATAACAAAAATTTATG
AGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGT
GGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCAAAT
AAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCA
GTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAGRCTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCA
AGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTSAACTTGTCCAGGCCGTTAAGAACACC
GCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGG
CCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCYGATCCTCCAGATATAGAATTTGCCAA
GAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAAT
GCCAGAATGAATGCTGRTAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGT
ATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAAGGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCCTGC
TTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCAGGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGCATA
AATTACTGCGAGACCCCCAAATTCAAGCTCGATACTGTTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGGGAC
ATTATGTAGGCAGCTTCGAGGATCCATACCATTCACACTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGACAG
AGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAATATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGATAAG
ACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAAGTG
AAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGCTTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTGGGA
GAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGATGCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAA
GACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCCTCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTGATA
GATTATACAAGGAAAACTATGAGAAGACAAAGGCAAAGAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAGTGA
GGCTAGATATAAAGACTTATATGTAAAGGATGTTTTGGGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCTCAA
AACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAGATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGCTGG
ACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGATAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACACGAA
ACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAAGGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTCAAT
GCCTATAATCTGAGTGATAATGTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAGCCA
AAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCCAAA
GATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGTGATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGATATG
CTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTGCCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCAATG
TGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGATGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGGGTC
CTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGATGCT
CCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCACCAG
ACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCT
GAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATG
GTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGGTTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGAAGA
CAAAGTCCAAATACAACACGCCCCATGATATGTTCAATGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCTCCA
TCATTACACCTACTTGCCTGACGCCATGGACCTGGAGCTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAACTGG
ATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCGACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATCCAG
ACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGA
AGATGTGAAACATAAATACACCATGAGTMCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGAT
TGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACA
AGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGGTTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCAGTC
TGATCGTGAATACAAGAAGAACTATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTC
GCTACCAATGTCAACTACAAACARCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGAGTG
ATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGC
ATTAAATGASAGGAAGTATCGACAGCACCCAGATACCRTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAGCAG
CTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACGCCC
TCAACATGAGTGATGCTCATTATAAAGCAGATTGGAAGAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAAAAG
TTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAGGCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAACTG
GTTCACTACATGAATGTGGCCAAAATCCAGTCTGATCGTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGGTCA
GTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCACCAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGTGGA
GCACTCCAGGAATGCCATGCAGATTCAGAGTGATAATCTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCCCTG
GAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAATGG
AACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACAC
ACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTGAGG
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
SCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAA
GACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACC
TACAACATGCTTCCYGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGA
AGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACAC
TTTGAAGYATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCT
GACAAAACCAAAGTCCACATCATGCCTGATATCCCCCAGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCTTGG
AAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAAGTA
CAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGAT
CGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCA
CCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGATAA
TGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCC
AGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGA
ACAAGCATTTATACACCATTGATTGGAATAAAGATAAGACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAACACT
GTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCA
AGAGACATTGCTAGTGATTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGT
TGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGT
GGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAA
GCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAG
AAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGT
TCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGAC
ATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATG
CCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGCCCG
GAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAG
TTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACAT
GCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCATTGG
CTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAGTTT
TCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAACCA
CTGTCCACATTATGCCAGATACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAA
GAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGT
AAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGTACA
AGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGTGGA
CTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAG
TCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGYCCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCT
ATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGTGACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTTATA
CACAGAGGCCTGGGACAAAGACAAGACTCAAATTCACATAATGCCTGATACACCAGAGATTATGTTGGCAAGGCAGAACAAAATCAACTACAGTGAGACT
CTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAGGCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTATCA
GTGATTACAAATACAAAGATGGTTACCGCAAGCAGCTCGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGT
GGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAG
AAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCT
ATGACCTCCAGAGCGATAACATTTACAAATCTGATCTCCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAAGAG
AGCTGCTGAAATACTGAGTGATAACATCTACCGCCAGCCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAGAAC
AATGCTCTCAATATGAACAAGCGCTTATACACAGAAGCCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGGCAA
GACAAAATAAAATAAATTATAGTGAGAGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGT
GGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGAT
GACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCCCAG
TGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCA
GAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATT
GATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGG
ACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGTCAT
GCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGCTAT
GACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCAAGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCC
ACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGA
GAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCC
CTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTGAGT
GGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGC
AGRCCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGG
GATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCAAGG
GATGGGATGAATCAAAGATGAAGGACTATGATCTGAGAGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAAATA
CAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATTGGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATTCAA
AGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGAAAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGACTT
TGGTCACTGACATTGATTATCGCAATTACCTGCATGAATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAG
TGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATC
TTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATA
TTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCT
TAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCC
AGGGAGATTGCCAGTGACTATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCT
GGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCAT
CCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAG
GCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCA
ATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGT
GACAGCGAAACAAAGTGGCGAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTG
CACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTG
TGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGAC
GATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATC
AATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTC
ATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTG
GATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAAC
TTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGG
GCAAATATACGTTTTCACCAGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCAC
CAAGGCCTATGGCTACACCCTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATAT
GAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACT
ACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCT
GGAGTATCGACACTATTTCCACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTAT
AAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTAC
AATATACAGCAGCAGGTAAAGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGA
GGTAAAATATAAAGAAAATTATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTAC
AGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGC
ATCTGGCCAGCCATATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTG
CCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTT
ACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCA
GGAAAGTCACAGATCAGATCAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCA
TGCCAAGCATGCTTATGATCTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTAC
GTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCG
TGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGA
CACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTT
GGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCC
ATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCA
CATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAG
GGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGA
TGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAA
GAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTT
GCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGA
TTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTA
CAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATA
AAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTG
ATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTA
CAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAA
TTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAG
GCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAA
AGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCAT
GTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCA
AAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGA
CTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGAC
AAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTG
ACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACAC
AACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAA
TCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGA
ACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAA
GGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTC
GATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACA
AGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCA
GTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGA
GTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAAC
TAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCA
AAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGG
ATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATAC
TCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTG
GACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTG
TTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAA
GACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCT
GAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTG
AGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGT
CAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTASCTGTCACTCCCGAGATGGAGCGAGTCAAACAC
AATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAG
AAAACATTAGCTCGGTGTTATACAAAGAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTT
TAGCTCGGTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCG
GTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACA
TCTCAACGGTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCA
GGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGT
GTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCC
GGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTA
CAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACA
ACGGTATCTTCCATCCCATCTCATCCATCKACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGG
ATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGT
TGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTC
TCAAGCTGCCTATGGTTTTTCTGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAG
CTTCTGCAATATTATTTCTGTGCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACAC
ATTAAAGGAAAAATAGCAGAGATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATAC
AAACCAGCAACTAATAAAACCTCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:990):
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
HDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLD
TPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPE
VKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHN
QENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSV
LYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRV
WRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTT
VSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5566):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  10181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 3326, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5567):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  8042
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2613, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2613, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5568):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  8521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2773, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5569):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  15866
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5221, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5570):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  16685
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5494, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5494, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5571):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  16820
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5539, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5572):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  16956
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5585, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5573):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  20030
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 6609, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 6609, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5574):
ATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAG
R
CTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACAC
Celera SNP ID:            hCV26039982
SNP Position Transcript:  639
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,13)      total(G,1|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 146, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5575):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  4674
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1491, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1491, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5576):
TGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCT
S
AACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAG
Celera SNP ID:            hCV25627718
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,3|G,37)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 191, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:5577):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  3414
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1071, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1071, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5578):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  4638
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1479, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5579):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  5384
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1727, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5580):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  19696
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6498, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5581):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  15178
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4992, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5582):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  11203
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 3667, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5583):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  4610
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1469, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5584):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  5701
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1833, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5585):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1407, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5586):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  20177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 6658, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5587):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  13753
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4517, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5588):
GCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGC
Y
GATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTG
Celera SNP ID:            hCV453653
SNP Position Transcript:  974
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,14)   caucasian(C,28|T,2)   total(C,30|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 257, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 257, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5589):
GTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAAAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 305, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5590):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  5915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1904, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5591):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  6108
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1969, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1969, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5592):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  3284
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1027, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1027, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5593):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  16893
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5564, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5594):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  19839
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6546, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6546, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6546, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5595):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  17244
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5681, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5596):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  20425
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:990, None   



Context             (SEQ ID NO:5597):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  15698
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5165, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5598):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  7717
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2505, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5599):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  15292
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5030, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5030, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5600):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  8669
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2822, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2822, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5601):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  8795
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2864, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2864, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5602):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  17063
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 5620, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5603):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  5573
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1790, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1790, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5604):
CCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTA
S
CTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCAC
Celera SNP ID:            hCV2057527
SNP Position Transcript:  19068
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,11)   caucasian(C,30|G,8)   total(C,51|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6289, (P,CCT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,5)      total(G,5|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6289, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5605):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  4029
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1276, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5606):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  8275
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2691, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5607):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  18595
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6131, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5608):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  18611
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 6136, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5609):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  13394
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 4397, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 4397, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5610):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  8849
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2882, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 2882, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5611):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  12011
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 3936, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 3936, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5612):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  4104
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1301, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 1301, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5613):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  11862
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 3887, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5614):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  4475
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1424, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 1424, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5615):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  12404
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 4067, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:990, 4067, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5616):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  13405
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4401, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4401, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5617):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  13531
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4443, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5618):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  13623
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4474, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5619):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  17270
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 5689, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5620):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  13015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 4271, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5621):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  19771
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 6523, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5622):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  8937
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2912, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2912, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5623):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  7513
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:990, 2437, (Q,CAG)   (R,CGG)   



Gene Number:                 104
Celera Gene:                 hCG2007119 - 146000219763133
Celera Transcript:           hCT2294730 - 146000219766518
Public Transcript Accession: NM_004543
Celera Protein:              hCP1793772 - 197000064926413
Public Protein Accession:    NP_004534
Gene Symbol:                 NEB
Protein Name:                nebulin;NEM2
Celera Genomic Axis:         GA_x5YUV32W8UP(42710126..42960048)
Chromosome:                  Chr2
OMIM number:                 161650
OMIM Information:            NEBULIN;NEB


Transcript Sequence (SEQ ID NO:294):
AGGCATCACGCTGGCTTTTGCCTGGGGTTCTCAGGAGGGGAGAGTTGGGAGAGGCTTTGCTGCTGAGGAAATTTATTTGGTAGATTGAAGGTTTGAACGA
GAGCTACAGAAACGAAAGAAAAAGTCTGTATAAGCCAATGGTGTTCGGGAAGAAAATAACCCCATTGCCTTGAGTTTGTAGGTGCCACTACTACTCTGGA
AAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGACAATAACAAAAATTTATG
AGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGT
GGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCAAAT
AAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCA
GTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAGRCTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCA
AGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTSAACTTGTCCAGGCCGTTAAGAACACC
GCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGG
CCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCYGATCCTCCAGATATAGAATTTGCCAA
GAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAAT
GCCAGAATGAATGCTGRTAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGT
ATAAAATGAATAAAAAAGCTGGTGTGGCAGCTAGCAAGGTAAAATACAAAGAAGACTATGAAAAGAATAAAGGAAAAGCAGATTATAATGTGCTTCCTGC
TTCAGAGAACCCACAGCTTAGGCAGCTGAAGGCAGCAGGAGATGCCCTAAGTGACAAACTATACAAGGAAAACTATGAAAAGACAAAAGCAAAGAGCATA
AATTACTGCGAGACCCCCAAATTCAAGCTCGATACTGTTCTGCAGAACTTCAGTAGTGATAAAAAATATAAAGATTCCTACTTAAAAGATATTTTGGGAC
ATTATGTAGGCAGCTTCGAGGATCCATACCATTCACACTGCATGAAAGTCACAGCTCAAAACAGTGATAAAAACTACAAAGCAGAATACGAAGAAGACAG
AGGCAAAGGCTTCTTCCCTCAGACCATAACTCAAGAATATGAAGCAATTAAGAAACTAGATCAGTGTAAAGACCACACCTACAAAGTCCATCCAGATAAG
ACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACTTAAATTACAAAGCAAAACATGAAAGTG
AAAAGTTCAAGTGCCATATCCCCCCTGATACTCCTGCTTTTATCCAGCACAAAGTCAATGCCTATAACTTGAGTGATAATCTTTATAAGCAAGACTGGGA
GAAGAGCAAAGCCAAAAAGTTTGACATTAAAGTGGATGCCATTCCCCTGCTGGCAGCCAAAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAA
GACTATGAAAAAAACAAAGGGAAAATGATTGGAGTCCTCAGCATTAATGACGATCCCAAGATGCTGCACTCCTTGAAGGTGGCCAAAAACCAGAGTGATA
GATTATACAAGGAAAACTATGAGAAGACAAAGGCAAAGAGTATGAATTACTGTGAGACCCCAAAATATCAACTTGATACTCAGCTGAAGAACTTCAGTGA
GGCTAGATATAAAGACTTATATGTAAAGGATGTTTTGGGACATTATGTAGGCAGCATGGAGGACCCATATCACACACACTGCATGAAAGTTGCAGCTCAA
AACAGTGATAAAAGTTACAAAGCAGAATATGAAGAAGATAAAGGAAAATGCTATTTCCCTCAGACAATAACACAAGAATATGAAGCAATCAAGAAGCTGG
ACCAGTGTAAAGATCATACCTACAAAGTTCATCCAGATAAGACCAAATTCACGGCAGTCACTGATTCTCCTGTACTGTTGCAAGCCCAGCTCAACACGAA
ACAGCTTAGTGATCTGAATTACAAAGCAAAACATGAAGGTGAGAAGTTCAAGTGCCATATACCAGCAGATGCTCCACAGTTTATCCAACACAGAGTCAAT
GCCTATAATCTGAGTGATAATGTTTATAAGCAAGACTGGGAGAAGAGCAAAGCCAAGAAGTTTGACATTAAAGTGGACGCCATTCCCCTGTTGGCAGCCA
AAGCCAACACCAAGAACACCAGCGATGTGATGTACAAGAAAGACTATGAAAAGAGCAAAGGGAAAATGATTGGAGCCCTCAGCATTAATGACGATCCAAA
GATGCTGCACTCCTTGAAGACAGCCAAAAACCAGAGTGATCGCGAATATCGAAAAGATTATGAAAAGTCAAAAACTATCTACACGGCACCTCTTGATATG
CTCCAAGTCACTCAAGCTAAGAAATCTCAGGCAATTGCCAGCGACGTTGATTATAAGCACATCTTACACAGTTACAGCTACCCCCCTGATAGCATCAATG
TGGACCTTGCCAAGAAGGCATATGCGCTGCAGAGCGATGTTGAATACAAAGCTGACTACAATAGCTGGATGAAAGGTTGTGGCTGGGTGCCTTTTGGGTC
CTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGAAAAAATATCGCCAACATCCAGACACCCTCAAGTTTACCTCGATTGAAGATGCT
CCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAWTACAACCTGCCACCAG
ACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCT
GAGAACTGATGCGMTTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATG
GTTGGCTTCCAAAGTCTTCAAGATGACCCTAAACTGGTTCATTATATGAACGTGGCCAAGATACAATCAGATCGGGAGTATAAAAAAGACTATGAGAAGA
CAAAGTCCAAATACAACACGCCCCATGATATGTTCAATGTCGTGGCGGCTAAGAAAGCCCAGGATGTGGTCAGCAATGTCAACTATAAGCATTCTCTCCA
TCATTACACCTACTTGCCTGACGCCATGGACCTGGAGCTGTCTAAGAACATGATGCAGATACAGAGTGATAACGTCTACAAGGAAGACTACAACAACTGG
ATGAAAGGCATTGGCTGGATTCCTATTGGCAGTCTCGACGTCGAAAAAGTTAAAAAGGCCGGTGATGCTCTGAATGAAAAGAAGTACAGGCAACATCCAG
ACACCCTCAAATTTACCAGCATTGTGGACTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGA
AGATGTGAAACATAAATACACCATGAGTMCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGAT
TGGYATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACA
AGGAAGCTTATGAGAAGTCAAAGGGAAAGCATGTGGGTTTCAGAAGCCTCCAGGATGATCCCAAGCTGGTCCACTATATGAATGTGGCAAAGCTGCAGTC
TGATCGTGAATACAAGAAGAACTATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTC
GCTACCAATGTCAACTACAAACARCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACSAGGAATGTCAATCAAATTCAGAGTG
ATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGC
ATTAAATGASAGGAAGTATCGACAGCACCCAGATACCRTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGRTGTTGGCTCAGCATAACACAAAGCAG
CTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCAGTTTATTCAAGCCAAAGTCAACGCCC
TCAACATGAGTGATGCTCATTATAAAGCAGATTGGAAGAAAACCATTGCCAAGGGCTATGATTTGAGACCAGATGCCATCCCAATTGTTGCTGCAAAAAG
TTCAAGGAATATTGCTAGTGATTGCAAATATAAGGAGGCCTACGAGAAAGCCAAAGGCAAGCAAGTTGGATTTCTCAGTCTTCAGGATGATCCTAAACTG
GTTCACTACATGAATGTGGCCAAAATCCAGTCTGATCGTGAGTACAAAAAGGGCTATGAAGCCAGCAAGACCAAGTACCACACACCTCTGGATATGGTCA
GTGTGACAGCTGCAAAGAAATCTCAGGAGGTTGCCACCAACGCCAACTACAGACAGTCATACCACCACTACACTCTCCTGCCCGATGCCTTGAATGTGGA
GCACTCCAGGAATGCCATGCAGATTCAGAGTGATAATCTGTACAAATCTGACTTCACCAATTGGATGAAAGGGATCGGCTGGGTGCCCATAGAGTCCCTG
GAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTAYGCCATGGACACAATGG
AACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACAC
ACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGARGAAAAGAAGAAAGGATATGACCTGAGG
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
SCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAA
GACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACC
TACAACATGCTTCCYGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGA
AGGGCATTGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACAC
TTTGAAGYATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCT
GACAAAACCAAAGTCCACATCATGCCTGATATCCCCCAGATTATTTTGGCAAAGGCAAATGCAATTAATATGAGTGATAAACTCTACAAACTTTCCTTGG
AAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGATTATAAATACAAGTA
CAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGAT
CGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCA
CCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGATAA
TGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCC
AGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGA
ACAAGCATTTATACACCATTGATTGGAATAAAGATAAGACCAAGATTCATGTGATGCCTGATACACCAGATATTTTACAAGCCAAGCAGAATCAAACACT
GTATAGTCAGAAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCA
AGAGACATTGCTAGTGATTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGT
TGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGT
GGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAA
GCTAAGAAAGTTTATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAG
AAAAGAACAAGCRGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGT
TCTGGCAAAGACAAATGCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGAC
ATTGTTCTGGCTAAAGMAAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATG
CCATACCAATCAAAGCAGCAAAAGCCTCCCGGGAAATTGCCAGTGAATACAAGTACAAGGAAGGCTTTCGCAAGCAGCTCGGCCACCACATTGGTGCCCG
GAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAG
TTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAASAAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACAT
GCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATTTGTACAAGTCAGACCTTCAGTGGCTAAAAGGCATTGG
CTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACCRTCAGCACCCAGATCAATTTAAGTTT
TCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACAGAAGCTTGGGATAAAGATAAAACCA
CTGTCCACATTATGCCAGATACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAA
GAGGAAAGGTTATGACATGCRGGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGT
AAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCAYGTGGCCAAGATCCAGAGTGACAGGGAGTACA
AGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGAYGTGGA
CTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGAYGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAG
TCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGYCCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCT
ATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGTGACTGACTCTCTGGAACAAGTGTTGGCCAAAAATAATGCCATCACTATGAACAAGCGTTTATA
CACAGAGGCCTGGGACAAAGACAAGACTCAAATTCACATAATGCCTGATACACCAGAGATTATGTTGGCAAGGCAGAACAAAATCAACTACAGTGAGACT
CTATACAAACTTGCCAATGAAGAAGCAAAAAAGAAAGGCTACGACTTGCGAAGTGACGCCATCCCCATCGTGGCTGCCAAGGCCTCCAGGGACGTTATCA
GTGATTACAAATACAAAGATGGTTACCGCAAGCAGCTCGGCCACCACATTGGAGCCCGGAACATTGAAGATGACCCCAAGATGATGTGGTCCATGCATGT
GGCCAAGATCCAGAGTGACAGGGAGTATAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGAGTGGTGTTAGCCAAG
AAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACGAGTGGACGTGCCTGCCCGACCAGAATGATGTCATCCATGCTCGGCAGGCCT
ATGACCTCCAGAGCGATAACATTTACAAATCTGATCTCCAGTGGCTGAGAGGCATTGGCTGGGTCCCCATTGGGTCTATGGATGTGGTCAAGTGCAAGAG
AGCTGCTGAAATACTGAGTGATAACATCTACCGCCAGCCTCCGGACAAGCTGAAATTTACCAGTGTGACTGACTCTCTAGAGCAGGTGCTGGCCAAGAAC
AATGCTCTCAATATGAACAAGCGCTTATACACAGAAGCCTGGGACAAAGACAAGACCCAAGTCCATATTATGCCTGATACACCTGAAATCATGTTGGCAA
GACAAAATAAAATAAATTATAGTGAGAGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGT
GGCTGCCAAGGCCTCTCGGGATATTGCCAGTGATTACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGAT
GACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAARACAAGGTACAGCAGCCCAG
TGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCA
GAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGACAATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATT
GATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGG
ACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAGCGCTTATATACTGAAGCCTGGGACAATGACAAGAAAACTATTCATGTCAT
GCCTGATACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATAAACTCTATAAACTTGCTTTGGAAGAGTCCAAGAAGGAAGGCTAT
GACTTGCGTCTGGATGCCATTCCAATCCAAGCAGCCAAGGCTTCAAGAGATATTGCTAGTGATTACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCC
ACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGA
GAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCC
CTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGATGCTATTTACAAATCTGATCTTGAGT
GGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGC
AGRCCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGG
GATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAAAAACTTTACACCAAGG
GATGGGATGAATCAAAGATGAAGGACTATGATCTGAGAGCAGATGCTATTTCCATCAAAAGTGCCAAGGCCTCCAGGGACATCGCCAGTGACTACAAATA
CAAGGAAGCCTATGAGAAACAGAAAGGCCACCACATTGGAGCCCAGAGCATTGAAGATGATCCCAAGATTATGTGTGCCATACATGCAGGAAAAATTCAA
AGTGAAAGGGAGTACAAGAAGGAATTCCAAAAGTGGAAAACCAAGTTCTCTAGCCCAGTGGACATGTTAAGCATCTTGCTGGCCAAGAAATGTCAGACTT
TGGTCACTGACATTGATTATCGCAATTACCTGCATGAATGGACATGCATGCCGGATCAAAACGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAG
TGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGGWCTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATC
TTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATA
TTAGTATTCCRAAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCT
TAATGTGAGCAATAAACTTTACCGTGAGGGCTGGGATGAAATGAAGGCGGGCTGTGATGTCCGGCTGGATGCCATCCCCATCCAGGCTGCCAAGGCCTCC
AGGGAGATTGCCAGTGACTATAAATATAAGCTTGACCATGAGAAGCAGAAGGGACACTACGTGGGCACCCTCACAGCCAGGGATGACAACAAGATCCGCT
GGGCCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCAT
CCTRCACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAG
GCCAAGAAGGCCTACGAACTGCAGAGCGATAATGTTTACAAGGCTGACTTGGAATGGTTGCGTGGAATTGGGTGGATGCCAAATGACTCCGTGTCCGTCA
ATCATGCCAAACATGCCGCGGACATCTTCAGTGAGAAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGT
GACAGCGAAACAAAGTGGCGAGATCCTCGATGATATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTG
CACACTGCCCAGGAGGCTGCTAGGATACTGGACCAGTATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTG
TGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGAC
GATGAGAGATGATCYTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATC
AATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTC
ATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGATAATGTCTACAGAGCTGACCTGGAGTGGCTCCGAGGCATTGGCTG
GATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTAYCCTAAC
TTTASAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGG
GCAAATATACGTTTTCACCAGATACACCACRTATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCAC
CAAGGCCTATGGCTACACCCTGRATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATAT
GAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTGRTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACT
ACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATGATGAATCACGTGCTGGCTAAAAGGTGCCAGTACATCCTCAGTGACCT
GGAGTATCGACACTATTTCCACCAGTGGACGTCTCTTCTGGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGATAATGTGTAT
AAAGATGACCTGAATTGGTTGAAAGGCATTGGTTGCTACGTTTGGGATACACCCCAAATCCTCCATGCCAAGAAATCATACGACCTTCAGAGTCAGCTAC
AATATACAGCAGCAGGTAAAGAAAATCTACAAAACTATAATCTGGTCACAGACACGCCCCTCTATGTGACTGCTGTTCAGAGTGGCATTAATGCCAGTGA
GGTAAAATATAAAGAAAATTATCATCAGATTAAGGACAAATACACAACAGTTCTAGAAACAGTGGATTATGACAGAACCAGAAACCTGAAGAATCTTTAC
AGCAGTAACCTGTACAAGGAGGCCTGGGATAGAGTGAAAGCCACCAGCTACATCCTGCCTTCCAGCACCTTGTCCCTGACACACGCCAAGAACCAGAAGC
ATCTGGCCAGCCATATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTG
CCTCCGAGTTGGCAAGCTTAACATCGATCGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTT
ACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCA
GGAAAGTCACAGATCAGATCAGCGATATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCA
TGCCAAGCATGCTTATGATCTACGTGATGATATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTAC
GTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGACGCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCG
TGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCGAATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGA
CACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACAYCAAGGCATATGGGTATACACTT
GGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAGWCAAGATCC
ATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCA
CATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGATATTAAATACAAAGAGGACTTGCAGGTCCTGAAG
GGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGTCTAATTACCTATACACTGATAAGGCAAGGAAGA
TGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGGSAA
GAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTT
GCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGAYGTGAAGGACATGGTCAGTGAGAAAAAGTACAAGA
TTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGATCTACGCTA
CAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAAATA
AAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTG
ATGTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTA
CAGCAAGTATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAA
TTGATGAATGAGAAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAG
GCGACCAGATCAGTCAGATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAA
AGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACACRCCCATGTTGCTGCAT
GTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCA
AAGCAGCCAAGGACGCCTAYAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACYGACCGGA
CTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGRACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGAC
AAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAARCATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTG
ACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACAC
AACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGMCCAAGCATGTCAGTGATACAAATTASAAAAAGAAGTTTGTCAAGGAGAAAGGAAAA
TCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTGATGTCGCTTACAGAAAAGATGCCAAAGAGA
ACCTGCATTACACCACAGTGGCTGATCGACCAGACATCAAGAAGGCCACACAGGCAGCCAAACAGGCCAGTGAGGTGGAGTACAGAGCCAAGCACCGCAA
GGAAGGCAGCCATGGCTTAAGCATGCTCGGTCGCCCAGACATAGAAATGGCCAAGAAGGCAGCCAAGCTGAGCAGCCAGGTTAAATACCGAGAAAATTTC
GATAAAGAAAAGGGCAAGACACCAAAATACAATCCAAAAGACAGCCAGCTCTACAAAGTCATGAAAGATGCTAATAATCTTGCAAGTGAGGTTAAATACA
AGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCTTACCA
GTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGA
GTGGGAAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAAC
TAAAATAGCAAGCGAGAAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCA
AAGAATGCCACTCAAATCCTCAATGAGAAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGG
ATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAGATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATAC
TCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAGAAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTG
GACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTAYAGTTG
TTCAAGACACRCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAA
GACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCT
GAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTG
AGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCGGTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGT
CAAACGCAATCAAGAGAACTTTAGCTCGGTGCTATACAAAGAAAACCTGGGGACAGGAATTCCAATCCCCATCACTCCTGAGATGCAGAGAGTCAAACAC
AATCAAGAAAACCTTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTTTACCTGTCACTCCCGAGATGGAAAGAGTCAAACACAATCAAG
AAAATATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACCCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATAT
TAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTASCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCG
GTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCACTCCTGAGATGCAGAGAGTCAAACGCAATCAAGAAAACATTAGCTCGGTGTTAT
ACAAAGAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCGGTATTGTACAAAGA
GAACATGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCGGTTCTTTATTCTGATAGTTTC
CGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAACGGTGAAATATCATG
AAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTA
CCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTTYACGTGTCTGGCGTACTAATCCTGGT
TCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTKACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGAT
CTGCCAGTGCACTAAGCRTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGC
AGTCTCAACAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCT
CATCCATCKACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATG
TTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGACYGGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCA
AAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAGACTCTCCACTGTTACCTAAGTTCTCAAGCTGCCTATGGTTTTTC
TGTGTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGT
GCCYAGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAG
ATGTTCACCTTTTCCTTGCTGATTGCTAATGCTTATTATTTCTAATTCAGTTCTGAAGTTATAAACTTATAATCAATACAAACCAGCAACTAATAAAACC
TCTAATTCTGCAA

Protein Sequence    (SEQ ID NO:991):
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHNYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
HDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMMLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLANKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLD
TPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPE
VKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENLGTGIPIPITPEMQRVKHN
QENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSV
LYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFR
KQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGS
VFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSVSGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSH
PSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI


SNP Information

Context             (SEQ ID NO:5624):
GCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAA
R
ACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAAT
Celera SNP ID:            hCV28947590
SNP Position Transcript:  10181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 3326, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:5625):
TGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGTTGGCCAA
S
AAGTGCCAGACCTTAGTCAGCGACGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGATGTCATCCATGCTCGGCAGGCCT
Celera SNP ID:            hCV11817058
SNP Position Transcript:  8042
SNP Source:               Applera
Population(Allele,Count): african american(C,9|G,25)   caucasian(C,9|G,11)   total(C,18|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2613, (N,AAC)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|C,3)   total(G,2|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2613, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:5626):
ACCCCTGAAGTTTTATTAGCTAAACAAAACAAAGTAAATTACAGTGAGAAATTGTATAAGCTTGGCCTAGAAGAAGCCAAGAGGAAAGGTTATGACATGC
R
GGTAGATGCCATTCCTATCAAGGCAGCCAAGGCCTCCAGAGATATTGCAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATT
Celera SNP ID:            hCV25627710
SNP Position Transcript:  8521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2773, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:5627):
AGAAGCTTCAGAGTCAGTATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGA
Y
GTGAAGGACATGGTCAGTGAGAAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCA
Celera SNP ID:            hCV25627516
SNP Position Transcript:  15866
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5221, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5628):
ACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGATATCCTTTATAAATTGGAATACAACAAGGCCAAACCCAGAGGCTACACCACAATCCACGACAC
R
CCCATGTTGCTGCATGTCCGCAAGGTTAAAGATGAAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAG
Celera SNP ID:            hCV25627533
SNP Position Transcript:  16685
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,11|G,29)   total(A,32|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5494, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5494, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5629):
AAGTCAGTGATCTGAAATACAAAGAAGTATACCAAAGAAATAAATCCAACTGCACCATTGAGCCAGATGCTGTTCATATCAAAGCAGCCAAGGACGCCTA
Y
AAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGT
Celera SNP ID:            hCV25627534
SNP Position Transcript:  16820
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5539, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5630):
CGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGACCGACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTG
R
ACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAA
Celera SNP ID:            hCV25627535
SNP Position Transcript:  16956
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,33)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5585, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:5631):
CAGCTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATC
K
ACTGCTGGAAAAATCTTCCGTGCCATGTATGACTATATGGCTGCTGATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAA
Celera SNP ID:            hCV2057533
SNP Position Transcript:  20309
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 6702, (S,TCG)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,2)   total(G,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 6702, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5632):
ATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAGGTTAAGTATCGAATGGATGGTGATGTTGCTAAG
R
CTATATGTCACGTAGATGAAAAAGCAAAGGATATTGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACAC
Celera SNP ID:            hCV26039982
SNP Position Transcript:  639
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,13)      total(G,1|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 146, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:5633):
GGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATG
R
TGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACTGAAGCACAAGTATACTATTGACCCTGAATTGCCTCA
Celera SNP ID:            hCV25627660
SNP Position Transcript:  4674
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,30|G,6)   total(A,43|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1491, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1491, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5634):
TGAACATGCAAAGAAAGTGTCGCAGCAAGTCAGTAAGGTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCT
S
AACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAGAAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAG
Celera SNP ID:            hCV25627718
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,3|G,37)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 191, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:5635):
CATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCG
M
TTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTTCAGTACAAAAAAGACTATGAAAAGGCTAAAGGGAAAATGGTTGGCTTCCAAAG
Celera SNP ID:            hCV25627646
SNP Position Transcript:  3414
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,38)   total(A,65|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1071, (I,ATT)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1071, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:5636):
GGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGAGAGGAAGTATCGACAGCACCCAGATACC
R
TCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATTTGAACTACAAGGTAGAGGGAGAGAAACT
Celera SNP ID:            hCV25627664
SNP Position Transcript:  4638
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,5|G,33)   total(A,18|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1479, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:5637):
TGCCCATAGAGTCCCTGGAGGTGGAGAAGGCAAAGAAAGCAGGAGAGATTCTTAGTGAGAAGAAGTATCGCCAGCACCCCGAGAAGCTGAAGTTCACTTA
Y
GCCATGGACACAATGGAACAGGCACTTAACAAGAGTAACAAACTGAACATGGACAAGAGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTC
Celera SNP ID:            hCV25627680
SNP Position Transcript:  5384
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1727, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5638):
ATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAGGTT
Y
ACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAG
Celera SNP ID:            hCV25627592
SNP Position Transcript:  19975
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6591, (S,TCA)   (L,TTA)   



Context             (SEQ ID NO:5639):
ACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTATTTCAAGTACAAAGAAGCCTATGAACACA
Y
CAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTAC
Celera SNP ID:            hCV25627487
SNP Position Transcript:  15178
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,33|T,1)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4992, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:5640):
CTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAG
R
CCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAGCATTTATACACAGAAGCTTGGGAT
Celera SNP ID:            hCV25627738
SNP Position Transcript:  11203
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 3667, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:5641):
ATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGGAGAAGGTCAAGAAAGCAGGCGATGCATTAAATGA
S
AGGAAGTATCGACAGCACCCAGATACCGTCAAGTTCACAAGTGTGCCTGATTCCATGGGCATGATGTTGGCTCAGCATAACACAAAGCAGCTAAGTGATT
Celera SNP ID:            hCV25627665
SNP Position Transcript:  4610
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,39)   total(C,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1469, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:5642):
CCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTG
S
CTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAG
Celera SNP ID:            hCV25627681
SNP Position Transcript:  5701
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,38)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1833, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:5643):
ATGAGAACACCAAAACCAGCTACCATACCCCTGGGGACATGGTTAGCATCACAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACA
R
CCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATACGAGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATA
Celera SNP ID:            hCV28961479
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1407, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:5644):
ATGCAGATGAGGTGTCCTTCAAGGATGGAGATGCCATCATAAATGTTCAAGCAATTGATGAAGGCTGGATGTATGGCACTGTGCAGAGGACTGGCAGGAC
Y
GGAATGCTCCCAGCCAACTACGTTGAAGCTATTTAGGCATTTCAAAGCATCACACTTGTCTGCAGGACTTACAGATCCTGCAGTCAATGTTTCGGTTTAG
Celera SNP ID:            hCV27495009
SNP Position Transcript:  20456
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 6751, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:5645):
AAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCTGGCTGGAAAAGTGATCGGTGAATTCCCTG
R
TGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGTTGAACTACAGAAAACATTATGAGGATACCAAAGCAAATGTTCATATCCCCAATGACATG
Celera SNP ID:            hCV25627775
SNP Position Transcript:  13753
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4517, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5646):
GCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGATGTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGC
Y
GATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTG
Celera SNP ID:            hCV453653
SNP Position Transcript:  974
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,14)   caucasian(C,28|T,2)   total(C,30|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 257, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 257, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:5647):
GTGAGCAAGCAAAAATACAAAGAAGACTATGAAAATAAAATCAAAGGCAAATGGAGTGAGACACCTTGCTTTGAAGTTGCAAATGCCAGAATGAATGCTG
R
TAACATTAGCACAAGGAAATACCAGGAAGATTTTGAAAACATGAAAGACCAGATCTACTTCATGCAGACCGAAACACCAGAGTATAAAATGAATAAAAAA
Celera SNP ID:            hCV25627777
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,39|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 305, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:5648):
CCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCC
Y
GATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGATAATCAGTACAAGGCTGACTATGCTGACTTCATGAAGGGCATTGGATGGC
Celera SNP ID:            hCV25627688
SNP Position Transcript:  5915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,38)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1904, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:5649):
TGGATGGCTCCCTCTGGGCTCCCTGGAAGCAGAGAAAAACAAGAAAGCCATGGAGATTATTAGTGAAAAGAAGTACCGCCAGCACCCAGACACTTTGAAG
Y
ATTCCACACTCATGGACTCGATGAACATGGTTTTGGCCCAGAATAATGCAAAAATTATGAACGAACATCTCTACAAACAAGCATGGGAGGCTGACAAAAC
Celera SNP ID:            hCV25627689
SNP Position Transcript:  6108
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,33)   caucasian(T,40)   total(C,3|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1969, (H,CAT)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,38)   total(C,3|T,73)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1969, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:5650):
CCTCGATTGAAGATGCTCCAATTACAGTACAGTCTAAAATTAACCAGGCCCAGAGGAGTGATATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAA
W
TACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAGAATATGTACAAAGCAGACTTGAAAGACTTGAGCA
Celera SNP ID:            hCV367600
SNP Position Transcript:  3284
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,15)   caucasian(A,4|T,30)   total(A,23|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1027, (K,AAA)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|T,5)      total(A,2|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1027, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5651):
TCATATCAAAGCAGCCAAGGACGCCTACAAAGTCAACACCAATCTGGACTATAAGAAACAGTACGAAGCCAACAAAGCCCACTGGAAGTGGACTCCTGAC
Y
GACCGGACTTCCTCCAGGCTGCCAAGTCATCCCTGCAGCAAAGCGATTTTGAATATAAGCTGGACCGGGAGTTCCTCAAGGGTTGCAAGCTTTCTGTCAC
Celera SNP ID:            hCV27860288
SNP Position Transcript:  16893
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5564, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:5652):
TCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGC
R
TCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAGCTTACAA
Celera SNP ID:            hCV7539160
SNP Position Transcript:  20118
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,6)   caucasian(A,22|G,6)   total(A,38|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6639, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,14)   caucasian(A,24|G,14)   total(A,40|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6639, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6639, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5653):
GTCTGAGAACAAGTACAAGGACCATGTCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTG
M
CCAAGCATGTCAGTGATACAAATTACAAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGC
Celera SNP ID:            hCV27860289
SNP Position Transcript:  17244
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5681, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5654):
GTCAATGTGATTTATGGTAGTACCATCCTTTCTCCTTTGGGTTTTAAAATAAGTTGCAGAACAGACACTTTAAAAGCTTCTGCAATATTATTTCTGTGCC
Y
AGAGTCTTTCTCCATTATAAACATGTTTTAACATTATTTCTTTTCTAAAACAGGGATTTTGAATATGCCAAACACATTAAAGGAAAAATAGCAGAGATGT
Celera SNP ID:            hCV7539161
SNP Position Transcript:  20704
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:991, None   



Context             (SEQ ID NO:5655):
AGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGCTGGTCTACAGAGCTGCAGG
S
AAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAGTATCTGTATGTTGAAC
Celera SNP ID:            hCV25627505
SNP Position Transcript:  15698
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,39|G,1)   total(C,71|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5165, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:5656):
GCCAAAAATAGGAGTGATAGACTTTATAGAGAAGCTTGGGACAAAGACAAGACTCAGATCCACATCATGCCTGATACACCTGACATTGTTCTGGCTAAAG
M
AAACTTAATCAACACAAGTGATAAACTCTACCGAATGGGTTATGAGGAGCTGAAGAGAAAAGGTTACGATCTTCCTGTTGATGCCATACCAATCAAAGCA
Celera SNP ID:            hCV25627700
SNP Position Transcript:  7717
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2505, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:5657):
TATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAGAGACTGTATCGGGAATTGTACCACAAACTGAAAG
W
CAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAGTTGATCTACAAATCAGACTTCTTCAAGATG
Celera SNP ID:            hCV16184004
SNP Position Transcript:  15292
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,5)   caucasian(A,39|T,1)   total(A,72|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5030, (D,GAC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5030, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:5658):
CAAGTGAATTCAAGTACAAAGAAGGCTATCGTAAGCAGCTCGGCCACCACATTGGTGCCCGAGCTATACGTGATGACCCCAAGATGATGTGGTCCATGCA
Y
GTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCA
Celera SNP ID:            hCV25627630
SNP Position Transcript:  8669
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,39|T,1)   total(C,70|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2822, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,39|T,1)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2822, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:5659):
AGTACAAGAAGGACTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGA
Y
GTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGT
Celera SNP ID:            hCV25627631
SNP Position Transcript:  8795
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2864, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2864, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5660):
AGTTCCTCAAGGGTTGCAAGCTTTCTGTCACTGATGACAAAAACACGGTGCTCGCCCTCAGGAATACTTTAATAGAAAGTGATCTGAAATACAAAGAGAA
R
CATGTCAAGGAAAGAGGAACCTGCCATGCCGTACCTGACACGCCTCAGATCCTGCTGGCGAAGACTGTCAGCAACCTGGTGTCTGAGAACAAGTACAAGG
Celera SNP ID:            hCV25627543
SNP Position Transcript:  17063
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 5620, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:5661):
AGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGATAAACTGTACAAAGCTGGCTGGGAAGA
R
GAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGATTACAAATACAAGAAAGCCT
Celera SNP ID:            hCV367591
SNP Position Transcript:  5573
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,12)   caucasian(A,7|G,29)   total(A,29|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1790, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1790, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:5662):
CCCTCTACCTGTCACTCCTGAGATGGAGAGAGTCAAACACAATCAAGAAAATATTAGCTCGGTGTTATACAAAGAAAACATGGGCAAGGGAACTCCTTTA
S
CTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCTCGGTTTTGTACAAAGAAAATGTGGGGAAAGCCACCGCAACCCCTGTCAC
Celera SNP ID:            hCV2057527
SNP Position Transcript:  19347
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,11)   caucasian(C,30|G,8)   total(C,51|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6382, (P,CCT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,5)      total(G,5|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6382, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5663):
CTCCCCAGTTATGGTCCAGGCAAAACAGAACACGAAGCAAGTCAGTGATATCTTATACAAGGCTAAAGGAGAAGATGTGAAACATAAATACACCATGAGT
M
CTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGGCATGACTTAATAGCCAAGGGCAACAA
Celera SNP ID:            hCV25627652
SNP Position Transcript:  4029
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,40)   total(A,1|C,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1276, (T,ACT)   (P,CCT)   



Context             (SEQ ID NO:5664):
GACCTTCAGTGGCTAAAAGGCATTGGCTGGATGACTAGTGGTTCTCTCGAGGATGAGAAAAATAAACGAGCCACCCAGATTTTGAGTGACCATGTTTACC
R
TCAGCACCCAGATCAATTTAAGTTTTCCAGCCTTATGGATTCCATACCAATGGTTTTGGCAAAAAACAATGCTATTACCATGAATCATCGCCTCTATACA
Celera SNP ID:            hCV25627709
SNP Position Transcript:  8275
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,30)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2691, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5665):
GTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTA
Y
AGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATC
Celera SNP ID:            hCV25627563
SNP Position Transcript:  18595
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6131, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:5666):
AGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTTCTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACAC
R
CCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCGGTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGA
Celera SNP ID:            hCV25627564
SNP Position Transcript:  18611
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 6136, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:5667):
TTGGCTGGATCCCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTA
Y
CCTAACTTTAGAAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAG
Celera SNP ID:            hCV16184046
SNP Position Transcript:  13394
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,12|T,28)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 4397, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 4397, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:5668):
TGCTGGGGGTGGTGCTGGCCAAGAAGTGCCAGACCTTAGTCAGCGATGTGGACTACAAGAACTACCTGCACCAGTGGACATGCCTGCCCGACCAGAGCGA
Y
GTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTGTCCATTGGCTCTT
Celera SNP ID:            hCV25627638
SNP Position Transcript:  8849
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2882, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 2882, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:5669):
GTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACACACCTGAAGTGGTCCTTGCTAAATCAAATGCTGAAAATATTAGTATTCC
R
AAGTACAGAGAGGTTTGGGACAAGGATAAAACTTCAATACACATAATGCCAGATACTCCAGAAATTAATCTCGCTAGAGCAAATGCTCTTAATGTGAGCA
Celera SNP ID:            hCV2057491
SNP Position Transcript:  12011
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,34|G,6)   total(A,65|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 3936, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,2)   total(G,1|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 3936, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5670):
TGTGAAACATAAATACACCATGAGTCCTGATCTTCCTCAGTTTCTCCAGGCCAAGTGCAATGCTTACAATATAAGTGACGTCTGTTATAAACGGGATTGG
Y
ATGACTTAATAGCCAAGGGCAACAATGTGCTGGGCGATGCTATTCCCATCACTGCAGCCAAGGCATCGAGAAACATTGCCAGTGATTATAAATACAAGGA
Celera SNP ID:            hCV25627658
SNP Position Transcript:  4104
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,33|T,5)   total(C,60|T,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1301, (H,CAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 1301, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:5671):
CGACATTATCCAAGCAAAAAAGGCCTATGACCTGCAGAGTGATGCCCTCTACAAGGCTGACTTGGAGTGGTTGCGTGGCATTGGCTGGATGCCCCAAGGG
W
CTCCTGAAGTGTTGAGAGTCAAAAACGCCCAGAATATCTTTTGTGACAGTGTCTATCGGACGCCTGTGGTGAACCTTAAGTACACAAGCATTGTTGACAC
Celera SNP ID:            hCV25627747
SNP Position Transcript:  11862
SNP Source:               Applera
Population(Allele,Count): african american(A,5|T,31)   caucasian(A,1|T,37)   total(A,6|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 3887, (T,ACT)   (S,TCT)   



Context             (SEQ ID NO:5672):
CAGCTGCAAAGATGGCCCAGGATGTCGCTACCAATGTCAACTACAAACAGCCATTGCATCATTACACATACCTACCTGACGCCATGAGTCTTGAGCATAC
S
AGGAATGTCAATCAAATTCAGAGTGATAATGTGTATAAAGACGAGTATAACAGCTTCTTGAAGGGCATCGGATGGATCCCTATTGGTTCCCTGGAGGTGG
Celera SNP ID:            hCV25627659
SNP Position Transcript:  4475
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(C,1|G,35)   total(C,1|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1424, (T,ACC)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(C,1|G,39)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 1424, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:5673):
CCCTCATAGCTGACAAGCTCCAGAATGAACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATGCTTTCCATCCT
R
CACTCTAAAAATTCCCAGGCTCTGGTCAGTGACATGGATTACCGCAATTACCTGCACCAGTGGACCTGCATGCCCGACCAGAACGATGTGATTCAGGCCA
Celera SNP ID:            hCV25627748
SNP Position Transcript:  12404
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 4067, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:991, 4067, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:5674):
CCACTGGATTCTGTGGACCATGTAAGGGTTACTAAGAACCAGGAAATGATGAGTCAGATCAAATATAAGAAAAATGCCCTTGAAAACTATCCTAACTTTA
S
AAGTGTGGTGGATCCTCCAGAGATTGTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAA
Celera SNP ID:            hCV2057496
SNP Position Transcript:  13405
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,9)   caucasian(C,32|G,8)   total(C,53|G,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4401, (T,ACA)   (R,AGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,2)      total(G,2|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4401, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:5675):
GTTTTAGCCAAGATTAATTCTGTCAATCAAAGTGATGTAAAATATAAAGAAACATTTAATAAAGCAAAGGGCAAATATACGTTTTCACCAGATACACCAC
R
TATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTGGATGAGCGC
Celera SNP ID:            hCV25627767
SNP Position Transcript:  13531
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,1)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4443, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5676):
TACACCACATATCTCCCACTCCAAAGACATGGGAAAACTCTACAGTACTATACTGTATAAAGGGGCGTGGGAGGGCACCAAGGCCTATGGCTACACCCTG
R
ATGAGCGCTACATTCCCATTGTTGGAGCCAAGCATGCTGATCTGGTGAACAGTGAGCTTAAATACAAAGAGACATATGAGAAGCAGAAAGGTCACTACCT
Celera SNP ID:            hCV25627768
SNP Position Transcript:  13623
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4474, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:5677):
TCAAGAAGCACTTGGCACAGGGCTCATACACAACACTACCAGAGACCCGGGACACTGTTCACGTCAAGGAAGTGACCAAGCATGTCAGTGATACAAATTA
S
AAAAAGAAGTTTGTCAAGGAGAAAGGAAAATCCAACTACTCCATCATGCTGGAGCCACCAGAGGTGAAACATGCTATGGAAGTGGCCAAGAAGCAAAGTG
Celera SNP ID:            hCV27860290
SNP Position Transcript:  17270
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 5689, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:5678):
GCCCATCACTGCAATGACGTTCAGAGTGAGCTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATC
Y
TAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGAT
Celera SNP ID:            hCV26799172
SNP Position Transcript:  13015
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 4271, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:5679):
CAAGATCAGGAGACTATTACAGGTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCT
K
ACACATGATTAATGTCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCGTCAGTGGGGGTGAGGAGAAGTCTGAGCATTCA
Celera SNP ID:            hCV27860291
SNP Position Transcript:  20050
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 6616, (X,TGA)   (L,TTA)      



Context             (SEQ ID NO:5680):
CGACCAGAGCGACGTCATCCATGCTCGGCAGGCCTATGACCTCCAGAGCGATAATATGTACAAGTCTGATCTCCAGTGGATGAGAGGCATTGGCTGGGTG
Y
CCATTGGCTCTTTGGATGTGGAAAAATGCAAAAGGGCAACTGAAATTTTGAGTGATAAAATCTATCGCCAGCCTCCAGACAGATTCAAATTTACCAGTGT
Celera SNP ID:            hCV318008
SNP Position Transcript:  8937
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,7|T,33)   total(C,31|T,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2912, (P,CCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2912, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:5681):
TATGAACTGCAAAGTGAGAATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGC
R
GGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACA
Celera SNP ID:            hCV25627699
SNP Position Transcript:  7513
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,37)   total(A,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:991, 2437, (Q,CAG)   (R,CGG)   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296348 - 107000109464848
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874534 - 197000069407798
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1873416..1889870)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:295):
CAAATGCATGAGCATATTTATTTTCTGAAAGAAAACAGCCTATTTTGCATTTATCATGCCATGAACTTATTATACATCATCATACCTATTTTCTAAGATC
AACATGTTTTATAATATATTCATGATTATGGTACAAAGATAGTAAAATTAAGTATAAATTGGGAATATTTTTCAAGTAAAAACATGGCATTCTCTACCTA
TGAACACAAACAATATTAATTCAAACTAAATGTCTTGTTTAACCAATCACAATTTTCCAAAAGATGTTTATGATTTCTTCCAATAACAAGACCATAAAAT
ATATACTATCCTGCAGATCATTTTTTTGTCCTCTGACAAAGTTTTCTTTTTTATAAAACAATTGTAGCATATTCTTTTAAATTGATATATACTCTTACAG
TTCAGCAGATGTTCCATAATTTACCAAAGTATTCATCTCTCATTGTAATTCCYTTTTTTTGTAAATTACAAAAGTTGTGGTTAATATTAAGACAGATTTG
CCTAGATAGCTTTTAGAATTGCTGTGTCAAAGAAAACGAAAAAATTAAATTGGCTCTAGGTTGCCTTCCAAAAATACAATATTTACTTAAATCTTCTACA
GTTACAACGCCAACATCTGCAAAAATAGAACTAATATTTTTTAAGTGTGACTTTTTAAAAAATCTGGAAACATTGCAAAGTAGGATGATCGCATTCTAAT
AATTTCATATTCTTAAGTGCCCCACTGTCATCTTCCTTTACTTCTGGAAGGAAACATRTAGATATTAACACAGTTGCACCTTCACCTCCTCATCCCCTTC
CCCACTGGCAGTGGTTTTAATAGCAAGCCCCATGTGGGTATTAGCATTTAATGGAGCATCACTCCTGTTCTCGGCTTCGTCCATTCAGTCAGAGTCTAAT
CTAACCCACAAAAGCCTTACCCAGCCCAGAACCCCCGCCCTATCCCCAAATCTAACACTTTCAGTGACCACTGGTTTTGGCAACTCTGTGACCGCTTCCT
GGCCAGCACCGTGACTTCTTCAAACCTTGTTTATTTTTCCAAATTGTCCTGGATATGAGCATCTTCTCTGCCGTACGGCTGCTGCCTTCCTCTAAGATGG
CCGTGCCCATGGTGCTCCAGCTAAGGCTCCACTCTCAGCTATAATGGGCACAAAGGGCGCCGCCATCTTTTTTCCACAGCAGGCTGAATAGAATGCCACT
GCGCCGTGTTGGCCTTGGCTGGGCACCCGACTCTTGAGTGTCCCTTGCAACGAAGAGAGAAAGGCACTGAGGTGACTAAGAGTGATTCCCACAGCCATTA
TGGCCGCTCCTGTCAGAAACGCTGCGATGGGCGCARCCCTGTGACCTCATAGAGCGGCGCCCGCAGTCTGAACTCGCGATYCCGGGCAGGCTCCGTGGTC
CTCGCCTCGCTTCACGGTCTTTACCGCTCAGCTTCCCGGAGTCCGCGCAGGAGCGCGTCTGAATAGGAAGCGTTTTCGGACGTGGATGCGGCGTTTTGTC
GCTGCCAGTGGTGTCTGGAGAGGTTCGGGCTCGGTCCTCAGGTCCTGGCTCCCAGAAGCAAAATAACTCAAGTGAAGCAATGAAGGAAGAAGAAGGAGGT
TGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCARAAACTTCATGGCAARTGCAGAAGAG
ACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAKCACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTGGCTGTGGAATT
CAGCTGGGAGGAGTGGCAGCTCCTGGACACTGCTCAGAAGAACCTGTACCGGGATGTGATGGTGGAGAACTATAACCACCTAGTATCACTGGGGTATCAA
ACTAGCAAACCAGATGTACTCTCCAAGTTGGCACATGGACAAGAACCATGGAYAACAGATGCTAAAATTCAGAATAAAAATTGTCCAGGAATCGGGAAAG
TTGACAGTCATCTGCAAGAGCACTCTCCAAACCAAAGACTTCTGAAGAGCGTGCAGCAATGCAATGGACAGAATACACTTAGAAATATTGTACATCTCAG
CAAGACACATTTTCCTATAGTGCAAAATCATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAGAAGAGAAGACAT
GGAATAAATAACCCTGTTGAGTTTATTGRAGGTGAGAAAACACTTCTACATGGTAAGCATGAACGTACGCATACTAAAACTAGATTTTCTGAAAATGCAA
AATGTATCCATACTAAATTCCAAGTCTTCAAGCATCAGAGGACTCAGAAAATTGAGAAACCCCATGCATGCATTGAATGTGAGCAAACCTTCCTTAGGAA
GTCTCAGCTCATTTACCRTGAGAACATTTGTATACAAGAGAATCCTGGAAGTGGTCAATGTGAGAAATTATCCAGAAGTGTCCTGTTCACTAAGCATCTG
AAAACTAATACAACAGACAAAATCTGTATACCCAATGAATATAGAAAAGGCTCTACTGTGAAGAGTAGTCTCATTACACATCAACAAACCCATACAGAAG
AGAAATCCTATATGTGCAGTGAGTGTGGAAAGGGCTTTACAATGAAGCGCTATCTAATTGCTCATCAGCGAACTCATAGTGGAGAGAAACCTTATGTGTG
CAAAGAATGTGGAAAAGGTTTCACTGTGAAGAGCAATCTCATTGTACATCAGCGAACTCATACAGGGGAGAAACCCTATATATGCAGTGAATGTGGAAAA
GGCTTCACCATGAAGCGCTATCTTGTTGTACATCAGCGAACTCATACTGGAGAGAAACCCTATATGTGCAGTGAATGTGGAAAAGGCTTTACCGTGAAGA
GCAATCTCATTGTACATCAGCGCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCACTCTCRTTATACA
TCAGCGAACTCATACAGGAGAGAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAGCGAACTCATACA
GGAGAAAAACCCTATGAATGCAATGAATGTGGTAAAGCCTTCAGCCAGAAAATATGCCTCATACAACATGAGAGATGTCATACAGGAAAGACTCCCTTTG
TATGTACCGAGTGCGGAAAATCCTATTCACACAAATATGGCCTCATTACCCATCAGAGAATTCACACAGGAGAGAAACCTTATGAGTGCAATGAATGTGG
AAAAGCCTTCACCACAAAGTCAGTACTCAATGTACATCAAAGAACGCATACAGGAGAGAGGCCGTATGGATGCAGTGATTGTGAGAAAGCCTTCTCCCAC
TTATCAAACCTTGTCAAACATAAGAAAATGCACACAAGAGAAATGGGTAGAATCAGTCAAGTTGAAAACTCCTGTAATGGAGAGTCACAGCTCCTTCCTT
ATAAGTGAACTCATGCAGAAGAAAACCCTACTAGTGCCGTGACTATGGAAATGCCTTTTGTGGCAACTCAGACTTCATTAAACATCAGTGTGTTTCTAGC
CAATTGGAACATAAACATGGTGCTGCCTGTTGACAGATGTGTGTCTGTCCTCAGGAGGTGAAATAATTTGCCCTAGAGATCAATTTGATGAATACAGTAA
ATAAGGTAGTGCCTTTAGTGGTCTTTTACCTCATATTTTCTGTCAATGAAAATACGTTGAATAAACTATATTAATGTGGAGATGTTTTGAGCAATAATTT
CTGCTCATATGTCTGAAAAGTATACAGAGATAAATTCTGTGAATACAAAGACTAAGAAAAGTCTTCTGTGGAAAGATAGACTTTATTATCAGGTTTCATC
ATAGATTTCAACGTAAGTGAGCTTATTGTTGATAGAAACATGATGACCATGACAAAGTCTTTACTCAGAAATATGACCTCAGTGAGTGTCAAAGTTTACA
CTGGAAAATAACTTTAAGGTGACAGTATTGATGGCAGGATTTCAGCGACGCACTCTGCTTCATCATTTGTCAGGAGATCACATAGAAAGTAAAATTGTTC
CGAACATGCTATCAAATAAATGTGGAACACCTTTAGCAAACTATCAACAGCTCATGAAGGCATGAAATGTGGTGAAAATGATGAATATTTGAGTGCTTTT
TCTTAATAAGTATAACCTTAAACATCAGCTAATACACCTGGTGTGCATTTTCAGTCAGGATACCTTAATCCTCATTTCTAGTTGCCTTGCCAATGATTCC
ATAATATACTGTCTCATTACTGTTTATTTTTACTGTTGTGTAAAATTGTGGTATAATGAGAAATACATTTGGTCTTTGTTCCTGGTTCCTGGCATAGAGC
TCCTAAAACGCTTAGAATTTCATGAGTGATAAGAGTTTTTTGGTTTTGTTTTGTTTTTGCTGTTGTTGTTATTCATAGCACTGCCCTTTTAATTACACCT
GATTATACTACTGAAGTGACTTATGGTTGCTCCCCTAGACAGCCTCAGAATGGGGCTGTTCTCTAGGAAGATCAAGTAACTAGAGGATGGAGACTTTGTG
CCCCATTTCTCCCACCTCCTGGAAGGGGAGGGGTGCTGGAGATTAGATTAGACAATGAGATTAAGAGAACTCCAAATAGCCCAAGAGGGTGGTGCACCCC
CAACTTYATAGGGGTAGAGGCTCCTGAGATTAGGAGAACCCTTTTTAGGCTTTACTCTATGTACCTCTTCATTTGAGTGTTCATTTGCGTCCTTTATAAC
CAGTAAAACAAAGTACGCTGTTTTCTTGAGTTTTGTGAGCCCTGTAGCAAATTATCAAACCTGAGTAGGGCAGTGGGAACTCGGAATTTATCACCATTCA
GAACTGCAGGTTGTCCTTGTGAGTGGCATCTGATGTGGGGGAAGTCTTGGACTGAGCCCCTTAACTTGTGGAGTCTGCACTAATTTAGACTGCACTAACT
AACTTGCACTGCACTAACTTGGACTGCACTAACTTGTGGAGTCTGCACTAACTTGGAGAAGTTAGTGTCAGAATTGAATTRTAGAACACCCAGTTGTTCA
GAATTGAATTGTAGAACACCCAATTGGTGTGGGAGAATTAGAGAATTTATTTGTGTCAGAAAATACTCCAGAACAACCACCCCATATTATGATTAGCTCT
TTTCCTTTCTTTGGCTCTGAGCTTAATTGTACATTAAGCAAACTTAAGTAGAAAAGAAACTGAATATGTTAAATATATTAAHAACATATTTGGACTTGCT
TAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACTYGAAATTGCAAAAGCAGTCTAGAGGCTTTGCTAGTATC
CTTCAACCAATTTCTAGTAAAAATATCCTATATAACCATAATTATCAAAACCAGAAAAACAACATTGGTAGGATACTATAAAGTACTAATCTTATTTTGG
ATTTGACGAATTTTTACATGTTTTTTTCTTTTTTAGTTTGTACTCTAAGAAGTTGTATTACATGTACAGATTCGTGTAACCACTGCAACCACATAAAACT
AATGAACACAAAGTCCCTCATGCTACCTTTTTATGCTTACACTCCATCCAAACCTAACTCTGCCAACCACTTTTCTCCTATCAGTATAATTTCATCATTT
CATGAATATGATAAAAATAAAATTGTTTTTGTAAATGGTTTTTATAAATTTTATATAAATAAGTTATATGAATTTTTATTGATAGAGAGTATGTAAGCTT
TTGGCATTTTTGTCACTCAGCAAATTACTCCTAAGGTTTATATGAGTTGATGAATAGTTGTTTTATTATTTTTTTTTACCACCATGTATCTAACCAGATG
AAAGTTGTTTATATTTGAGAGTAGTATACATATTTGATGTAGTAGTTTATCCATTCACCTATGAGATATATTTGCACTGTTTTCCTGGTTTTAAGTGCTA
TAAATAAAGATGCTGTGAAATCTACA

Protein Sequence    (SEQ ID NO:992):
MIKTQESLTLEDVAVEFSWEEWQLLDTAQKNLYRDVMVENYNHLVSLGYQTSKPDVLSKLAHGQEPWTTDAKIQNKNCPGIGKVDSHLQEHSPNQRLLKS
VQQCNGQNTLRNIVHLSKTHFPIVQNHDTFDLYRKNLKSSLSLINQKRRHGINNPVEFIGGEKTLLHGKHERTHTKTRFSENAKCIHTKFQVFKHQRTQK
IEKPHACIECEQTFLRKSQLIYHENICIQENPGSGQCEKLSRSVLFTKHLKTNTTDKICIPNEYRKGSTVKSSLITHQQTHTEEKSYMCSECGKGFTMKR
YLIAHQRTHSGEKPYVCKECGKGFTVKSNLIVHQRTHTGEKPYICSECGKGFTMKRYLVVHQRTHTGEKPYMCSECGKGFTVKSNLIVHQRSHTGEKSYI
CSECGKGFTVKRTLVIHQRTHTGEKSYICNECGKGFTTKRTLIIHQRTHTGEKPYECNECGKAFSQKICLIQHERCHTGKTPFVCTECGKSYSHKYGLIT
HQRIHTGEKPYECNECGKAFTTKSVLNVHQRTHTGERPYGCSDCEKAFSHLSNLVKHKKMHTREMGRISQVENSCNGESQLLPYK


SNP Information

Context             (SEQ ID NO:5682):
ATAAAACAATTGTAGCATATTCTTTTAAATTGATATATACTCTTACAGTTCAGCAGATGTTCCATAATTTACCAAAGTATTCATCTCTCATTGTAATTCC
Y
TTTTTTTGTAAATTACAAAAGTTGTGGTTAATATTAAGACAGATTTGCCTAGATAGCTTTTAGAATTGCTGTGTCAAAGAAAACGAAAAAATTAAATTGG
Celera SNP ID:            hCV26638819
SNP Position Transcript:  453
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5683):
AAAAATCTGGAAACATTGCAAAGTAGGATGATCGCATTCTAATAATTTCATATTCTTAAGTGCCCCACTGTCATCTTCCTTTACTTCTGGAAGGAAACAT
R
TAGATATTAACACAGTTGCACCTTCACCTCCTCATCCCCTTCCCCACTGGCAGTGGTTTTAATAGCAAGCCCCATGTGGGTATTAGCATTTAATGGAGCA
Celera SNP ID:            hCV15879968
SNP Position Transcript:  758
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,552|G,935)   total(G,935|A,552) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5684):
AAGAAGGAGGTTGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCAAAAACTTCATGGCAA
R
TGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAGCACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTGG
Celera SNP ID:            hCV29188621
SNP Position Transcript:  1690
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5685):
CATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAGAAGAGAAGACATGGAATAAATAACCCTGTTGAGTTTATTG
R
AGGTGAGAAAACACTTCTACATGGTAAGCATGAACGTACGCATACTAAAACTAGATTTTCTGAAAATGCAAAATGTATCCATACTAAATTCCAAGTCTTC
Celera SNP ID:            hCV25928020
SNP Position Transcript:  2229
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,2|G,34)   total(A,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:992, 160, (E,GAA)   (G,GGA)   



Context             (SEQ ID NO:5686):
CGTGAAGAGCAATCTCATTGTACATCAGCGCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCACTCTC
R
TTATACATCAGCGAACTCATACAGGAGAGAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAGCGAAC
Celera SNP ID:            hCV25986512
SNP Position Transcript:  2993
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,16)   caucasian(A,14|G,26)   total(A,26|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:992, 415, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:992, 415, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:5687):
TTCTCCCACCTCCTGGAAGGGGAGGGGTGCTGGAGATTAGATTAGACAATGAGATTAAGAGAACTCCAAATAGCCCAAGAGGGTGGTGCACCCCCAACTT
Y
ATAGGGGTAGAGGCTCCTGAGATTAGGAGAACCCTTTTTAGGCTTTACTCTATGTACCTCTTCATTTGAGTGTTCATTTGCGTCCTTTATAACCAGTAAA
Celera SNP ID:            hCV7807120
SNP Position Transcript:  4707
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5688):
TAATTTAGACTGCACTAACTAACTTGCACTGCACTAACTTGGACTGCACTAACTTGTGGAGTCTGCACTAACTTGGAGAAGTTAGTGTCAGAATTGAATT
R
TAGAACACCCAGTTGTTCAGAATTGAATTGTAGAACACCCAATTGGTGTGGGAGAATTAGAGAATTTATTTGTGTCAGAAAATACTCCAGAACAACCACC
Celera SNP ID:            hCV1597640
SNP Position Transcript:  5081
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,4)   total(G,2|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5689):
TTCCAAGTCTTCAAGCATCAGAGGACTCAGAAAATTGAGAAACCCCATGCATGCATTGAATGTGAGCAAACCTTCCTTAGGAAGTCTCAGCTCATTTACC
R
TGAGAACATTTGTATACAAGAGAATCCTGGAAGTGGTCAATGTGAGAAATTATCCAGAAGTGTCCTGTTCACTAAGCATCTGAAAACTAATACAACAGAC
Celera SNP ID:            hCV25988416
SNP Position Transcript:  2418
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,7)   caucasian(A,39|G,1)   total(A,68|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:992, 223, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:5690):
AAGCAATGAAGGAAGAAGAAGGAGGTTGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCA
R
AAACTTCATGGCAAATGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAGCACAGAAGAAAATGATCAAGACCCAGGAATCACTGA
Celera SNP ID:            hCV25987606
SNP Position Transcript:  1675
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,5)   caucasian(A,34|G,4)   total(A,57|G,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5691):
AGTGATTCCCACAGCCATTATGGCCGCTCCTGTCAGAAACGCTGCGATGGGCGCAGCCCTGTGACCTCATAGAGCGGCGCCCGCAGTCTGAACTCGCGAT
Y
CCGGGCAGGCTCCGTGGTCCTCGCCTCGCTTCACGGTCTTTACCGCTCAGCTTCCCGGAGTCCGCGCAGGAGCGCGTCTGAATAGGAAGCGTTTTCGGAC
Celera SNP ID:            hCV25988442
SNP Position Transcript:  1381
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,32)   total(C,62|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None



Context             (SEQ ID NO:5692):
CAAATGCATGAGCATATTTATTTTCTGAAAGAAAACAGCCTATTTTGCATTTATCATGCCATGAACTTATTA
T
ACATCATCATACCTATTTTCTAAGATCAACATGTTTTATAATATATTCATGATTATGGTACAAAGATAGTAAAATTAAGTATAAATTGGGAATATTTTTC
Celera SNP ID:            hCV26638820
SNP Position Transcript:  73
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,4)   total(T,4|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5693):
GAGTGTCCCTTGCAACGAAGAGAGAAAGGCACTGAGGTGACTAAGAGTGATTCCCACAGCCATTATGGCCGCTCCTGTCAGAAACGCTGCGATGGGCGCA
R
CCCTGTGACCTCATAGAGCGGCGCCCGCAGTCTGAACTCGCGATCCCGGGCAGGCTCCGTGGTCCTCGCCTCGCTTCACGGTCTTTACCGCTCAGCTTCC
Celera SNP ID:            hCV25988525
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,32)   total(A,2|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None



Context             (SEQ ID NO:5694):
AATATGTTAAATATATTAACAACATATTTGGACTTGCTTAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACT
Y
GAAATTGCAAAAGCAGTCTAGAGGCTTTGCTAGTATCCTTCAACCAATTTCTAGTAAAAATATCCTATATAACCATAATTATCAAAACCAGAAAAACAAC
Celera SNP ID:            hCV1597636
SNP Position Transcript:  5363
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,9)   total(C,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5695):
CAAATGCATGAGCATATTTATTTTCTGAAAGAAAACAGCCTATTTTGCATTTATCATGCCATGAACTTATT
A
TACATCATCATACCTATTTTCTAAGATCAACATGTTTTATAATATATTCATGATTATGGTACAAAGATAGTAAAATTAAGTATAAATTGGGAATATTTTT
Celera SNP ID:            hCV26638821
SNP Position Transcript:  72
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|A,4)   total(A,4|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5696):
CAAATGCATGAGCATATTTATTTTCTGAAAGAAAACAGCCTATTTTGCATTTATCATGCCATGAACTTAT
T
ATACATCATCATACCTATTTTCTAAGATCAACATGTTTTATAATATATTCATGATTATGGTACAAAGATAGTAAAATTAAGTATAAATTGGGAATATTTT
Celera SNP ID:            hCV26638822
SNP Position Transcript:  71
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,4)   total(T,4|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5697):
AAGTGGACACTAATATTTCTGACTAGGAAAACTTCAAAAACTTCATGGCAAATGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGA
K
CACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTGGCTGTGGAATTCAGCTGGGAGGAGTGGCAGCTCCTGGACACTGCTCAGAA
Celera SNP ID:            hCV25987483
SNP Position Transcript:  1739
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,38)   total(G,67|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:992, None



Context             (SEQ ID NO:5698):
CCATATTATGATTAGCTCTTTTCCTTTCTTTGGCTCTGAGCTTAATTGTACATTAAGCAAACTTAAGTAGAAAAGAAACTGAATATGTTAAATATATTAA
H
AACATATTTGGACTTGCTTAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACTCGAAATTGCAAAAGCAGTCT
Celera SNP ID:            hCV26638816
SNP Position Transcript:  5282
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3|A,3|-,8)   total(A,3|C,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:992, None   



Context             (SEQ ID NO:5699):
GATGTGATGGTGGAGAACTATAACCACCTAGTATCACTGGGGTATCAAACTAGCAAACCAGATGTACTCTCCAAGTTGGCACATGGACAAGAACCATGGA
Y
AACAGATGCTAAAATTCAGAATAAAAATTGTCCAGGAATCGGGAAAGTTGACAGTCATCTGCAAGAGCACTCTCCAAACCAAAGACTTCTGAAGAGCGTG
Celera SNP ID:            hCV25924133
SNP Position Transcript:  1953
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,19)   caucasian(C,24|T,14)   total(C,33|T,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:992, 68, (T,ACA)   (I,ATA)   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296345 - 107000109464857
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874535 - 197000069407799
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1891884..1908900)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:296):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGGRGCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCCM
AGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACAC
CCTTCACTGGTGACTGAAGTTTSTAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAG
AAAATGATCAATGCCCAGGAATTGCTGACACTGGAGGATGTTACTGTGGAGTTCACCTGGGAGGAGTGGCAGCTCCTGGGCCCTTTTCAGAAGGATTTGT
ACCGGGATGTGATGTTGGAGATCTACAGCAACCTGCTATCAATGGGTTATCAAGTCAGCAAACCAGATGCACTCTCCAAGTTGGAACGAGGAGAAGAACC
ATGGACAATGGAAGATGAAAGGCACAGTCGAATCTGTCCAGAAAACAACGAAGTTGATGATCATCTGCAGGATCACTTGGAAAATCAAAGGATGCTGAAG
AGTGTGGAACAATACCATGAACATAATGCATTTGGAAATACTGCCTCTCAAACCAAAAGCCTTTGTCTTTTCAGGGAAAATCATGATACATTTGAGTTAT
ATATAAAAACTTTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCT
TCATGGYAACTATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCAT
GAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCKCAGCTCACTGATCATGAGAGAGTTCATACAGGAGARAAACCTT
ATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCAGTGAATG
TGGAAAAGTCTTCACTATGAAGAGCCGTCTGATTGAACATCAGCGAACTCATACTGGAGAGAAACCCTACATATGCAATGAATGTGGAAAAGGCTTCCCA
GGCAAGCGTAATCTCATTGTACATCAGCGAAATCATACTGGAGAGAAATCCTATATATGTAGTGAATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTA
TTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTCMCCACAAAACACTATGTCATCATACATCAACGAAA
TCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTATGATCGAACATCAACGAACTCATACAGGAGAGAAA
CCCTACATATGCAGTGAATGTGGAAAAGGCTTTCCCAGGAAGAGTAATCTTATTGTACATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTG
AATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATACMGGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTT
CCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACAGGTGCAGTGAATGTGGGAAAGGTTTCATTGTGAATAGCGGA
CTGATGTTACATCAGCGAACTCATACTGGAGAGAAACCGTACATATGCAATGAATGTGGAAAAGGTTTTGCCTTTAAGAGCAATCTTGTTGTACACCAGC
GAACTCATACTGGAGAGAAACCCTTTATGTGCAGTGAATGTGGAAAAGGCTTCACCATGAAACGCTATCTCATTGTACATCAGCAAATTCATACAGAAGA
GAAATCTTGTATATGTAGTGAATGTGGAAGAGGCTTTGCCAAGGAAACAGAGCTTGCTTTACATAAGCAAGTTCATACTGGAGAAAAACCTTATGGATGT
AATGAATGTGGTAAAGGCTTCACTATGAAGAGCCGTCTAATTGTTCATCAACGAACTCATACAGGAGAGAAACCCTTTGTATGCAGTGAATGTAGAAAAG
CCTTCTCCTCAAAGAGAAATCTCATTGTACATCAGCGAACTCATAATGGAAACAAACCCTGACAATGCAGTGGACATGTTCATGCCTTTGGGAAGAAAAT
CTGCCTTGTACAACATCAGAGATTTCACAGTATAGATTTTCTACATGTGTACTGAGTATGAAAAATCATATTTCAAAATCCAGTGTTATTCACTAGGATG
AATGCTATCAATGTCAGAAAGGCTTCAACATGAATTCAGGCTCTGAATTCTTTGATGTACCAATGTATAGAAAATTACTCATCTGAGAGAGAGTCTGTGG
ATTGGGGGTAACCTTTCATTTGTCAACCTTCATTAAAACTATGACAACGTCCACATGACAAATGTGTAAGGTACATAGTCCTTTTGCAGAGAATCTGAAC
TGATTACATACAAACAAATTCATGCAGAGAGAAAACCACGTTAGTAATGTGAACTGATTAAACAGCAGTGTGCTCCTAGCATACATGCATATAGGCAGTG
TAGAGCAGCCTGTTGCTAGATTTTCACCCTTGGAAGACAATGCAATTTCCAGGAGCGAATTTTAATGAATGCAGAGAATGCACTAGTGCCTTCGGTGATT
AATTACCTCATATTTTATGTCACAATAAACATGTAGGAAATAAACTTGATACATCCAATGCAGAAAAGTCTTGAAAATTTTCTAAGTAACTATGTCTTGA
AAAGTATTTACTGAGATAAATCTTACAAAGGAGTAGGCTAGGAAAGCCTTCTATGGGAAGAAAGACCCTATCTCTTCAGTGATCATAATAGATCATCAAT
GAACTTACACATACTAGCAGCATTATCATGGGAAAGCCTTTGCCCAGAAATAAAACCTTAACAGTTGGCAGATATATTTCATACTGGAGAACAAGTTTCA
GATGGCAGTGAATACACGAGGATTTCAGTGATACATGCTGCCTCATCATCATTACTTCATACAGAAATAAAACTTATATGAAGAGTAACTTTAAAAAGGA
TCAGGAAATTCATGAAGTAAAAAAGTCTCATGAAAATGATACATAATGCCGGGCATGGTGGCTTGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTG
GGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCA
YGCTTGTAATCCCAGCTACTCTGGAGGCTAARCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGC
CTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAAACCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTC
TGTGACAGCATACCTTGCATCATATTATCAATGATTCCATAATTGTAAAGCGGGCTGTTCTTATCACTGATTAAATTTTAATCCTATATATAACACAGGT
GTTTTCTGTGCCAATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTG
GATGTGTTTATCCMAGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACA
AGAGATTACAAAATATACAAAAGTTTCCTGAGTATTCTTTGCTTAGCATCATCAATGTTATCTTACATAACCATAATAATAAAAACCACGGAGTTCTGCT
CTTGTTGCCCAGGTTGGAGTGTAATAGCACGATCTTGGCTCACTGCAACCCCGCCTCCCAGGTTCAAGAGATTTTCCTGCCTCAGCCTCCTAAGTAGCTG
GGATTACAGGCACCCACGACCACGCTCGACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGCCTTGAACTC

Protein Sequence    (SEQ ID NO:993):
MINAQELLTLEDVTVEFTWEEWQLLGPFQKDLYRDVMLEIYSNLLSMGYQVSKPDALSKLERGEEPWTMEDERHSRICPENNEVDDHLQDHLENQRMLKS
VEQYHEHNAFGNTASQTKSLCLFRENHDTFELYIKTLKSNLSLVNQNKSCEINNSTKFSGDGKSFLHGNYEELYSAAKFSVSTKANSTKSQVSKHQRTHE
IEKNHVCSECGKAFVKKSQLTDHERVHTGEKPYGCTLCAKVFSRKSRLNEHQRIHKREKSFICSECGKVFTMKSRLIEHQRTHTGEKPYICNECGKGFPG
KRNLIVHQRNHTGEKSYICSECGKGFTGKSMLIIHQRTHTGEKPYICSECGKGFTTKHYVIIHQRNHTGEKPYICNECGKGFTMKSRMIEHQRTHTGEKP
YICSECGKGFPRKSNLIVHQRNHTVEKSYLCSECGKGFTVKSMLIIHQRTHTGEKPYTCSECGKGFPLKSRLIVHQRTHTGEKPYRCSECGKGFIVNSGL
MLHQRTHTGEKPYICNECGKGFAFKSNLVVHQRTHTGEKPFMCSECGKGFTMKRYLIVHQQIHTEEKSCICSECGRGFAKETELALHKQVHTGEKPYGCN
ECGKGFTMKSRLIVHQRTHTGEKPFVCSECRKAFSSKRNLIVHQRTHNGNKP


SNP Information

Context             (SEQ ID NO:5700):
ATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATAC
M
GGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACA
Celera SNP ID:            hCV11526752
SNP Position Transcript:  1659
SNP Source:               Applera
Population(Allele,Count): african american(A,10|C,20)   caucasian(A,15|C,15)   total(A,25|C,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 452, (T,ACA)   (T,ACC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,17)   caucasian(C,2)   total(A,9|C,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 452, (T,ACA)   (T,ACC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|A,8)   total(A,8|C,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 452, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:5701):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGG
R
GCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCCAAGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAG
Celera SNP ID:            hCV1129588
SNP Position Transcript:  38
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(A,546|G,951)   total(G,951|A,546)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:993, None   



Context             (SEQ ID NO:5702):
CAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCACGCTTGTAATCCCAGCTACTCTGGAGGCTAA
R
CTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAA
Celera SNP ID:            hCV482473
SNP Position Transcript:  3432
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:993, None   



Context             (SEQ ID NO:5703):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGGGGCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCC
M
AGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACAC
Celera SNP ID:            hCV1129589
SNP Position Transcript:  100
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,3)   total(A,3|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:993, None   



Context             (SEQ ID NO:5704):
GGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCA
Y
GCTTGTAATCCCAGCTACTCTGGAGGCTAAGCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCC
Celera SNP ID:            hCV482474
SNP Position Transcript:  3401
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:993, None   



Context             (SEQ ID NO:5705):
TGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACACCCTTCACTGGTGACTGAAGTTT
S
TAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAGAAAATGATCAATGCCCAGGAATT
Celera SNP ID:            hCV25742356
SNP Position Transcript:  223
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,40)   total(C,75|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:993, None



Context             (SEQ ID NO:5706):
GAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCTCAGCTCACTGATCATGAGAGAGTTCATACAGGAGA
R
AAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCA
Celera SNP ID:            hCV25772358
SNP Position Transcript:  993
SNP Source:               Applera
Population(Allele,Count): african american(A,18)   caucasian(A,39|G,1)   total(A,57|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 230, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:5707):
CCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTC
K
CAGCTCACTGATCATGAGAGAGTTCATACAGGAGAAAAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATC
Celera SNP ID:            hCV25772293
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,30)   caucasian(G,1|T,39)   total(G,5|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 218, (S,TCG)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,32)   caucasian(G,1|T,33)   total(G,5|T,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 218, (S,TCG)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 218, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5708):
ATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTC
M
CCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTAT
Celera SNP ID:            hCV25741648
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(A,2)   caucasian(A,3|C,1)   total(A,5|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:993, 355, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:5709):
AAACTTTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCTTCATGG
Y
AACTATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAG
Celera SNP ID:            hCV25772260
SNP Position Transcript:  807
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,27)   caucasian(C,8|T,32)   total(C,15|T,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:993, 168, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5710):
TGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAA
A
CCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTCTGTGACAGCATACCTTGCATCATATTATCAATGATTCCATAATTGT
Celera SNP ID:            hCV26638823
SNP Position Transcript:  3546
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|-,5)   total(A,1|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:993, None   



Context             (SEQ ID NO:5711):
ATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTGGATGTGTTTATCC
M
AGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACAAGAGATTACAAAAT
Celera SNP ID:            hCV7801787
SNP Position Transcript:  3814
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,3)   total(A,3|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:993, None   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296350 - 107000109464771
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874531 - 197000069407795
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1850935..1908900)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:297):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGGRGCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCCM
AGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACAC
CCTTCACTGGTGACTGAAGTTTSTAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAG
AAAATGATCAATGCCCAGGAATTGCTGACACTGGAGGATGTTACTGTGGAGTTCACCTGGGAGGAGTGGCAGCTCCTGGGCCCTTTTCAGAAGGATTTGT
ACCGGGATGTGATGTTGGAGATCTACAGCAACCTGCTATCAATGGGTTATCAAGTCAGCAAACCAGATGCACTCTCCAAGTTGGAACGAGGAGAAGAACC
ATGGACAATGGAAGATGAAAGGCACAGTCGAATCTGTCCAGAAAACAACGAAGTTGATGATCATCTGCAGGATCACTTGGAAAATCAAAGGATGCTGAAG
AGTGTGGAACAATACCATGAACATAATGCATTTGGAAATACTGCCTCTCAAACCAAAAGCCTTTGTCTTTTCAGGGAAAATCATGATACATTTGAGTTAT
ATATAAAAACTTTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCT
TCATGGYAACTATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCAT
GAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCKCAGCTCACTGATCATGAGAGAGTTCATACAGGAGARAAACCTT
ATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCAGTGAATG
TGGAAAAGTCTTCACTATGAAGAGCCGTCTGATTGAACATCAGCGAACTCATACTGGAGAGAAACCCTACATATGCAATGAATGTGGAAAAGGCTTCCCA
GGCAAGCGTAATCTCATTGTACATCAGCGAAATCATACTGGAGAGAAATCCTATATATGTAGTGAATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTA
TTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTCMCCACAAAACACTATGTCATCATACATCAACGAAA
TCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTATGATCGAACATCAACGAACTCATACAGGAGAGAAA
CCCTACATATGCAGTGAATGTGGAAAAGGCTTTCCCAGGAAGAGTAATCTTATTGTACATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTG
AATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATACMGGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTT
CCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACAGGTGCAGTGAATGTGGGAAAGGTTTCATTGTGAATAGCGGA
CTGATGTTACATCAGCGAACTCATACTGGAGAGAAACCGTACATATGCAATGAATGTGGAAAAGGTTTTGCCTTTAAGAGCAATCTTGTTGTACACCAGC
GAACTCATACTGGAGAGAAACCCTTTATGTGCAGTGAATGTGGAAAAGGCTTCACCATGAAACGCTATCTCATTGTACATCAGCAAATTCATACAGAAGA
GAAATCTTGTATATGTAGTGAATGTGGAAGAGGCTTTGCCAAGGAAACAGAGCTTGCTTTACATAAGCAAGTTCATACTGGAGAAAAACCTTATGGATGT
AATGAATGTGGTAAAGGCTTCACTATGAAGAGCCGTCTAATTGTTCATCAACGAACTCATACAGGAGAGAAACCCTTTGTATGCAGTGAATGTAGAAAAG
CCTTCTCCTCAAAGAGAAATCTCATTGTACATCAGCGAACTCATAATGGAAACAAACCCTGACAATGCAGTGGACATGTTCATGCCTTTGGGAAGAAAAT
CTGCCTTGTACAACATCAGAGATTTCACAGTATAGATTTTCTACATGTGTACTGAGTATGAAAAATCATATTTCAAAATCCAGTGTTATTCACTAGGATG
AATGCTATCAATGTCAGAAAGGCTTCAACATGAATTCAGGCTCTGAATTCTTTGATGTACCAATGTATAGAAAATTACTCATCTGAGAGAGAGTCTGTGG
ATTGGGGGTAACCTTTCATTTGTCAACCTTCATTAAAACTATGACAACGTCCACATGACAAATGTGTAAGGTACATAGTCCTTTTGCAGAGAATCTGAAC
TGATTACATACAAACAAATTCATGCAGAGAGAAAACCACGTTAGTAATGTGAACTGATTAAACAGCAGTGTGCTCCTAGCATACATGCATATAGGCAGTG
TAGAGCAGCCTGTTGCTAGATTTTCACCCTTGGAAGACAATGCAATTTCCAGGAGCGAATTTTAATGAATGCAGAGAATGCACTAGTGCCTTCGGTGATT
AATTACCTCATATTTTATGTCACAATAAACATGTAGGAAATAAACTTGATACATCCAATGCAGAAAAGTCTTGAAAATTTTCTAAGTAACTATGTCTTGA
AAAGTATTTACTGAGATAAATCTTACAAAGGAGTAGGCTAGGAAAGCCTTCTATGGGAAGAAAGACCCTATCTCTTCAGTGATCATAATAGATCATCAAT
GAACTTACACATACTAGCAGCATTATCATGGGAAAGCCTTTGCCCAGAAATAAAACCTTAACAGTTGGCAGATATATTTCATACTGGAGAACAAGTTTCA
GATGGCAGTGAATACACGAGGATTTCAGTGATACATGCTGCCTCATCATCATTACTTCATACAGAAATAAAACTTATATGAAGAGTAACTTTAAAAAGGA
TCAGGAAATTCATGAAGTAAAAAAGTCTCATGAAAATGATACATAATGCCGGGCATGGTGGCTTGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTG
GGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCA
YGCTTGTAATCCCAGCTACTCTGGAGGCTAARCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGC
CTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAAACCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTC
TGTGACAGCATACCTTGCATCATATTATCAATGATTCCATAATTGTAAAGCGGGCTGTTCTTATCACTGATTAAATTTTAATCCTATATATAACACAGGT
GTTTTCTGTGCCAATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTG
GATGTGTTTATCCMAGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACA
AGAGATTACAAAATATACAAAAGTTTCCTGAGTATTCTTTGCTTAGCATCATCAATGTTATCTTACATAACCATAATAATAAAAACCACGGAGTTCTGCT
CTTGTTGCCCAGGTTGGAGTGTAATAGCACGATCTTGGCTCACTGCAACCCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG
GGATTACAGGCATGCGCCACCATGCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCTCCTGACCTT
GTGATCCACCCGCCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCAGGACT

Protein Sequence    (SEQ ID NO:994):
MINAQELLTLEDVTVEFTWEEWQLLGPFQKDLYRDVMLEIYSNLLSMGYQVSKPDALSKLERGEEPWTMEDERHSRICPENNEVDDHLQDHLENQRMLKS
VEQYHEHNAFGNTASQTKSLCLFRENHDTFELYIKTLKSNLSLVNQNKSCEINNSTKFSGDGKSFLHGNYEELYSAAKFSVSTKANSTKSQVSKHQRTHE
IEKNHVCSECGKAFVKKSQLTDHERVHTGEKPYGCTLCAKVFSRKSRLNEHQRIHKREKSFICSECGKVFTMKSRLIEHQRTHTGEKPYICNECGKGFPG
KRNLIVHQRNHTGEKSYICSECGKGFTGKSMLIIHQRTHTGEKPYICSECGKGFTTKHYVIIHQRNHTGEKPYICNECGKGFTMKSRMIEHQRTHTGEKP
YICSECGKGFPRKSNLIVHQRNHTVEKSYLCSECGKGFTVKSMLIIHQRTHTGEKPYTCSECGKGFPLKSRLIVHQRTHTGEKPYRCSECGKGFIVNSGL
MLHQRTHTGEKPYICNECGKGFAFKSNLVVHQRTHTGEKPFMCSECGKGFTMKRYLIVHQQIHTEEKSCICSECGRGFAKETELALHKQVHTGEKPYGCN
ECGKGFTMKSRLIVHQRTHTGEKPFVCSECRKAFSSKRNLIVHQRTHNGNKP


SNP Information

Context             (SEQ ID NO:5712):
ATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATAC
M
GGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACA
Celera SNP ID:            hCV11526752
SNP Position Transcript:  1659
SNP Source:               Applera
Population(Allele,Count): african american(A,10|C,20)   caucasian(A,15|C,15)   total(A,25|C,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 452, (T,ACA)   (T,ACC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,17)   caucasian(C,2)   total(A,9|C,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 452, (T,ACA)   (T,ACC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|A,8)   total(A,8|C,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 452, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:5713):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGG
R
GCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCCAAGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAG
Celera SNP ID:            hCV1129588
SNP Position Transcript:  38
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(A,546|G,951)   total(G,951|A,546)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:994, None   



Context             (SEQ ID NO:5714):
CAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCACGCTTGTAATCCCAGCTACTCTGGAGGCTAA
R
CTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAA
Celera SNP ID:            hCV482473
SNP Position Transcript:  3432
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:994, None   



Context             (SEQ ID NO:5715):
TCTCTGGAGGTTTAGAGGGGGAGGGAGTTGGGCGAGGGGCCCAGAAGTGGAAGAAGTTTAGGGAAGTAAGTTCAGCTTTTAAGAGGTCGCGGCGATTCC
M
AGGAGAGTCAGTCCACAGGTCCTGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACAC
Celera SNP ID:            hCV1129589
SNP Position Transcript:  100
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,3)   total(A,3|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:994, None   



Context             (SEQ ID NO:5716):
GGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCA
Y
GCTTGTAATCCCAGCTACTCTGGAGGCTAAGCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCC
Celera SNP ID:            hCV482474
SNP Position Transcript:  3401
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:994, None   



Context             (SEQ ID NO:5717):
TGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACACCCTTCACTGGTGACTGAAGTTT
S
TAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAGAAAATGATCAATGCCCAGGAATT
Celera SNP ID:            hCV25742356
SNP Position Transcript:  223
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,40)   total(C,75|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:994, None



Context             (SEQ ID NO:5718):
GAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCTCAGCTCACTGATCATGAGAGAGTTCATACAGGAGA
R
AAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCA
Celera SNP ID:            hCV25772358
SNP Position Transcript:  993
SNP Source:               Applera
Population(Allele,Count): african american(A,18)   caucasian(A,39|G,1)   total(A,57|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 230, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:5719):
CCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTC
K
CAGCTCACTGATCATGAGAGAGTTCATACAGGAGAAAAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATC
Celera SNP ID:            hCV25772293
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,30)   caucasian(G,1|T,39)   total(G,5|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 218, (S,TCG)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,32)   caucasian(G,1|T,33)   total(G,5|T,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 218, (S,TCG)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 218, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5720):
ATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTC
M
CCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTAT
Celera SNP ID:            hCV25741648
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(A,2)   caucasian(A,3|C,1)   total(A,5|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:994, 355, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:5721):
AAACTTTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCTTCATGG
Y
AACTATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAG
Celera SNP ID:            hCV25772260
SNP Position Transcript:  807
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,27)   caucasian(C,8|T,32)   total(C,15|T,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:994, 168, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5722):
TGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAA
A
CCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTCTGTGACAGCATACCTTGCATCATATTATCAATGATTCCATAATTGT
Celera SNP ID:            hCV26638823
SNP Position Transcript:  3546
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|-,5)   total(A,1|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:994, None   



Context             (SEQ ID NO:5723):
ATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTGGATGTGTTTATCC
M
AGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACAAGAGATTACAAAAT
Celera SNP ID:            hCV7801787
SNP Position Transcript:  3814
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,3)   total(A,3|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:994, None   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296347 - 107000109464819
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874533 - 197000069407797
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1850935..1907155)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:298):
TCCACAGGTCCTGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACACCCTTCACTGGT
GACTGAAGTTTSTAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAGAAAATGATCAA
TGCCCAGGAATTGCTGACACTGGAGGATGTTACTGTGGAGTTCACCTGGGAGGAGTGGCAGCTCCTGGGCCCTTTTCAGAAGGATTTGTACCGGGATGTG
ATGTTGGAGATCTACAGCAACCTGCTATCAATGGGTTATCAAGTCAGCAAACCAGATGCACTCTCCAAGTTGGAACGAGGAGAAGAACCATGGACAATGG
AAGATGAAAGGCACAGTCGAATCTGTCCAGAAAACAACGAAGTTGATGATCATCTGCAGGATCACTTGGAAAATCAAAGGATGCTGAAGAGTGTGGAACA
ATACCATGAACATAATGCATTTGGAAATACTGCCTCTCAAACCAAAAGCCTTTGTCTTTTCAGGGAAAATCATGATACATTTGAGTTATATATAAAAACT
TTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCTTCATGGYAACT
ATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAGAAAA
AAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCKCAGCTCACTGATCATGAGAGAGTTCATACAGGAGARAAACCTTATGGATGTACT
TTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCAGTGAATGTGGAAAAGTCT
TCACTATGAAGAGCCGTCTGATTGAACATCAGCGAACTCATACTGGAGAGAAACCCTACATATGCAATGAATGTGGAAAAGGCTTCCCAGGCAAGCGTAA
TCTCATTGTACATCAGCGAAATCATACTGGAGAGAAATCCTATATATGTAGTGAATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAG
CGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTCMCCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAG
AGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTATGATCGAACATCAACGAACTCATACAGGAGAGAAACCCTACATATG
CAGTGAATGTGGAAAAGGCTTTCCCAGGAAGAGTAATCTTATTGTACATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAA
GGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATACMGGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGA
GTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACAGGTGCAGTGAATGTGGGAAAGGTTTCATTGTGAATAGCGGACTGATGTTACA
TCAGCGAACTCATACTGGAGAGAAACCGTACATATGCAATGAATGTGGAAAAGGTTTTGCCTTTAAGAGCAATCTTGTTGTACACCAGCGAACTCATACT
GGAGAGAAACCCTTTATGTGCAGTGAATGTGGAAAAGGCTTCACCATGAAACGCTATCTCATTGTACATCAGCAAATTCATACAGAAGAGAAATCTTGTA
TATGTAGTGAATGTGGAAGAGGCTTTGCCAAGGAAACAGAGCTTGCTTTACATAAGCAAGTTCATACTGGAGAAAAACCTTATGGATGTAATGAATGTGG
TAAAGGCTTCACTATGAAGAGCCGTCTAATTGTTCATCAACGAACTCATACAGGAGAGAAACCCTTTGTATGCAGTGAATGTAGAAAAGCCTTCTCCTCA
AAGAGAAATCTCATTGTACATCAGCGAACTCATAATGGAAACAAACCCTGACAATGCAGTGGACATGTTCATGCCTTTGGGAAGAAAATCTGCCTTGTAC
AACATCAGAGATTTCACAGTATAGATTTTCTACATGTGTACTGAGTATGAAAAATCATATTTCAAAATCCAGTGTTATTCACTAGGATGAATGCTATCAA
TGTCAGAAAGGCTTCAACATGAATTCAGGCTCTGAATTCTTTGATGTACCAATGTATAGAAAATTACTCATCTGAGAGAGAGTCTGTGGATTGGGGGTAA
CCTTTCATTTGTCAACCTTCATTAAAACTATGACAACGTCCACATGACAAATGTGTAAGGTACATAGTCCTTTTGCAGAGAATCTGAACTGATTACATAC
AAACAAATTCATGCAGAGAGAAAACCACGTTAGTAATGTGAACTGATTAAACAGCAGTGTGCTCCTAGCATACATGCATATAGGCAGTGTAGAGCAGCCT
GTTGCTAGATTTTCACCCTTGGAAGACAATGCAATTTCCAGGAGCGAATTTTAATGAATGCAGAGAATGCACTAGTGCCTTCGGTGATTAATTACCTCAT
ATTTTATGTCACAATAAACATGTAGGAAATAAACTTGATACATCCAATGCAGAAAAGTCTTGAAAATTTTCTAAGTAACTATGTCTTGAAAAGTATTTAC
TGAGATAAATCTTACAAAGGAGTAGGCTAGGAAAGCCTTCTATGGGAAGAAAGACCCTATCTCTTCAGTGATCATAATAGATCATCAATGAACTTACACA
TACTAGCAGCATTATCATGGGAAAGCCTTTGCCCAGAAATAAAACCTTAACAGTTGGCAGATATATTTCATACTGGAGAACAAGTTTCAGATGGCAGTGA
ATACACGAGGATTTCAGTGATACATGCTGCCTCATCATCATTACTTCATACAGAAATAAAACTTATATGAAGAGTAACTTTAAAAAGGATCAGGAAATTC
ATGAAGTAAAAAAGTCTCATGAAAATGATACATAATGCCGGGCATGGTGGCTTGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACT
TGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCAYGCTTGTAATC
CCAGCTACTCTGGAGGCTAARCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAA
GAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAAACCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTCTGTGACAGCAT
ACCTTGCATCATATTATCAATGATTCCATAATTGTAAAGCGGGCTGTTCTTATCACTGATTAAATTTTAATCCTATATATAACACAGGTGTTTTCTGTGC
CAATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTGGATGTGTTTAT
CCMAGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACAAGAGATTACAA
AATATACAAAAGTTTCCTGAGTATTCTTTGCTTAGCATCATCAATGTTATCTTACATAACCATAATAATAAAAACCACGGAGTTCTGCTCTTGTTGCCCA
GGTTGGAGTGTAATAGCACGATCTTGGCTCACTGCAACCCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC
ATGCGCCACCATGCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCTCCTGACCTTGTGATCCACCC
GCCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCAGGACT

Protein Sequence    (SEQ ID NO:995):
MINAQELLTLEDVTVEFTWEEWQLLGPFQKDLYRDVMLEIYSNLLSMGYQVSKPDALSKLERGEEPWTMEDERHSRICPENNEVDDHLQDHLENQRMLKS
VEQYHEHNAFGNTASQTKSLCLFRENHDTFELYIKTLKSNLSLVNQNKSCEINNSTKFSGDGKSFLHGNYEELYSAAKFSVSTKANSTKSQVSKHQRTHE
IEKNHVCSECGKAFVKKSQLTDHERVHTGEKPYGCTLCAKVFSRKSRLNEHQRIHKREKSFICSECGKVFTMKSRLIEHQRTHTGEKPYICNECGKGFPG
KRNLIVHQRNHTGEKSYICSECGKGFTGKSMLIIHQRTHTGEKPYICSECGKGFTTKHYVIIHQRNHTGEKPYICNECGKGFTMKSRMIEHQRTHTGEKP
YICSECGKGFPRKSNLIVHQRNHTVEKSYLCSECGKGFTVKSMLIIHQRTHTGEKPYTCSECGKGFPLKSRLIVHQRTHTGEKPYRCSECGKGFIVNSGL
MLHQRTHTGEKPYICNECGKGFAFKSNLVVHQRTHTGEKPFMCSECGKGFTMKRYLIVHQQIHTEEKSCICSECGRGFAKETELALHKQVHTGEKPYGCN
ECGKGFTMKSRLIVHQRTHTGEKPFVCSECRKAFSSKRNLIVHQRTHNGNKP


SNP Information

Context             (SEQ ID NO:5724):
ATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATAC
M
GGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACA
Celera SNP ID:            hCV11526752
SNP Position Transcript:  1548
SNP Source:               Applera
Population(Allele,Count): african american(A,10|C,20)   caucasian(A,15|C,15)   total(A,25|C,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 452, (T,ACA)   (T,ACC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,17)   caucasian(C,2)   total(A,9|C,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 452, (T,ACA)   (T,ACC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|A,8)   total(A,8|C,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 452, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:5725):
CAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCACGCTTGTAATCCCAGCTACTCTGGAGGCTAA
R
CTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAA
Celera SNP ID:            hCV482473
SNP Position Transcript:  3321
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:995, None   



Context             (SEQ ID NO:5726):
GGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAGCCCCCCTCTCTACTAAAAATACAAAATTAGCCGAGCATGGTGGCTCA
Y
GCTTGTAATCCCAGCTACTCTGGAGGCTAAGCTGGAGAATCACTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCC
Celera SNP ID:            hCV482474
SNP Position Transcript:  3290
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:995, None   



Context             (SEQ ID NO:5727):
TGGCTACCCTGGGAAGAGACAAGAAGTAAATGAAGAAAGAGGAAGATTCCAGGACCTAGATATGATTTCTGTGGACACCCTTCACTGGTGACTGAAGTTT
S
TAAATAGAAATTTAAGGCAGATCCAGAGGAGACAAAGACAGAGTATCCCAGGTGCTGGCCATTTCCCACAACAGAAGAAAATGATCAATGCCCAGGAATT
Celera SNP ID:            hCV25742356
SNP Position Transcript:  112
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,3)   caucasian(C,40)   total(C,75|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:995, None



Context             (SEQ ID NO:5728):
GAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTCTCAGCTCACTGATCATGAGAGAGTTCATACAGGAGA
R
AAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATCAAAGAATTCATAAAAGAGAGAAATCTTTTATATGCA
Celera SNP ID:            hCV25772358
SNP Position Transcript:  882
SNP Source:               Applera
Population(Allele,Count): african american(A,18)   caucasian(A,39|G,1)   total(A,57|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 230, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:5729):
CCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAGAAAAAAACCACGTATGCAGTGAATGTGGGAAAGCGTTTGTCAAGAAGTC
K
CAGCTCACTGATCATGAGAGAGTTCATACAGGAGAAAAACCTTATGGATGTACTTTGTGTGCAAAAGTGTTCTCCAGAAAGTCCAGGCTAAATGAACATC
Celera SNP ID:            hCV25772293
SNP Position Transcript:  846
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,30)   caucasian(G,1|T,39)   total(G,5|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 218, (S,TCG)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,32)   caucasian(G,1|T,33)   total(G,5|T,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 218, (S,TCG)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 218, (S,TCG)   (S,TCT)      



Context             (SEQ ID NO:5730):
ATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTC
M
CCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTAT
Celera SNP ID:            hCV25741648
SNP Position Transcript:  1255
SNP Source:               Applera
Population(Allele,Count): african american(A,2)   caucasian(A,3|C,1)   total(A,5|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:995, 355, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:5731):
AAACTTTGAAATCAAATTTAAGTTTAGTCAACCAGAACAAAAGCTGTGAAATTAACAACTCTACTAAATTTAGTGGAGATGGGAAATCATTTCTTCATGG
Y
AACTATGAAGAACTTTATTCTGCAGCTAAATTCTCTGTAAGTACAAAAGCCAATAGCACTAAATCCCAAGTCAGTAAGCATCAGAGAACTCATGAAATAG
Celera SNP ID:            hCV25772260
SNP Position Transcript:  696
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,27)   caucasian(C,8|T,32)   total(C,15|T,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:995, 168, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5732):
TGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAAAAA
A
CCATATTTGAGGACTGTCACAAATCTAAACTCATGATACACTTGATATCTATTCTGTGACAGCATACCTTGCATCATATTATCAATGATTCCATAATTGT
Celera SNP ID:            hCV26638823
SNP Position Transcript:  3435
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|-,5)   total(A,1|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:995, None   



Context             (SEQ ID NO:5733):
ATCTGGTGTTATTTATTAGTTCTTACATATTATAGGCCCCAAATTTATTTTTTTCAATTTACTGATAAATGTAATTCAGTATATTTGGATGTGTTTATCC
M
AGTTACTAGGTACCATTATGTAGTTTACAAAAATGCCTTAAATGTTATTTTTCTAAAATTTGTTTTGAAATAATTCTAGATTCACAAGAGATTACAAAAT
Celera SNP ID:            hCV7801787
SNP Position Transcript:  3703
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,3)   total(A,3|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:995, None   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296349 - 107000109464804
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874532 - 197000069407796
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1875663..2000000)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:299):
CGCTGTGTGTGTGTTTCAGTCTACGTGGATTAAACATTACTTCGCTCCGTCTGCCTGGATTAAACGTGCACTTTGCAGTCCTCACTTCTCCGTACCAGTG
ATCTGGGGATCGCTACGGACCTTAAAATACCCATAGCCCCTTCGCCCCTGCAACAGGCACTTCTCCCCACGTTTGATGTGTGAATAATTACATTGACTGA
GAAAGAAACCCAGAAGAGGAAGAAGAGGAAGGAAAAGGAGTCAGTGATGGCTACTCAGGGGCATTTGACATTCAAGGATGTAGCCATAGAATTCTCTCAG
GAGGAGTGGAAATGCCTGGAGCCTGTGCAGAAAGCTTTGTACAAGGATGTGATGTTGGAGAACTATAGGAACCTGGTCTTCCTAGGTATCTCTYCTAAAT
GTGTGATCAAGGAATTACCACCAACAGAGAACAGTARTACAGGAGAAAGGTTCCAAACAGTGGCACTGGAAAGACATCAAAGCTATGATATTGAAAATTT
ATACTTCAGGGAAATACAGAAACATCTACATGACCTTGAATTTCAATGGAAAGATGGTGAAACAAATGATAAAGAAGTGCCAGTGCCCCATGAAAACAAT
CTTACTGTTCATACTGGAGAGAGACCCTTCAAATGTAATGAGTGTGGCAAAACCTTTAAACGGAGCTCAAACCTCACTGTACATCAGGTAATCCATGCAG
GAAAGAAACCATATAAATGTGATGTATGTGGCAAGGCATTCAGACATAGATCAAATCTTGTATGTCACCGGAGAATCCACAGTGGAGAGAAACAATACAA
ATGCAATGAATGTGGCAAGGTCTTCAGTAAACGTTCAAGTCTTGCAGTGCATCGACGAATTCACACTGTAGAGAAACCTTGCAAATGCAATGAATGTGGC
AAGGTCTTCAGTAAACGTTCAAGTCTTGCAGTGCATCAGAGAATTCATACTGGACAGAAAACTTACAAATGCAATAAATGTGGCAAGGTGTACAGTAAGC
ATTCACRTCTTGCAGTGCATTGGAGAATTCATACCGGCGAGAAAGCTTATAAATGCAATGAATGTGGCAAAGTTTTCAGCATACATTCACGACTTGCAGC
TCATCAGAGAATTCATACTGGAGAGAAACCTTACAAATGCAATGAATGTGGCAAGGTCTTCAGTCAACATTCACGTCTTGCAGTGCATCGGAGAATTCAT
ACTGGAGAGAAACCTTACAAATGCAAAGAATGTGGCAAGGTCTTCAGTGACCGTTCAGCTTTTGCAAGGCATCGGAGAATTCATACTGGAGAGAAGCCTT
ACAAATGCAAAGAATGTGGCAAGGTCTTCAGTCAATGTTCACGTCTTACAGTGCATCKGAGAATTCATAGTGGAGAGAAACCTTACAAATGCAATGAATG
YGGCAAGGTCTACAGTCAGTATTCACATCTTGTAGGGCATCGAAGAGTTCATACTGGAGAGAAACCATACAAATGTCATGAATGTGGCAAAGCCTTTAAT
CAGGGCTCCACACTCAATAGACATCAGAGAATTCATACCGGAGAGAAACCTTACAAATGCAATCARTGTGGGAATTCCTTTAGTCAGCGTGTCCATCTTA
RACTTCATCAGACTGTTCATACTGGAGACAGACCTTACAAATGTAATGAGTGTGGCAAAACCTTTAAACGGAGCTCAAACCTCACTGCACATCAGATAAT
TCATGCAGGAAAGAAACCATATAAATGTGATGAATGTGGCAAGGTATTCAGGCATAGTTCACATCTTGTAAGTCACCAGAGAATCCACACTGGAGAGAAA
AGATACAAATGTATTGAATGTGGCAAAGCCTTTGGGCGGTTGTTTTCCCTCAGCAAACACCAAAGAATTCATTCTGGCAAAAAACCTTATAAATGTAATG
AGTGTGGGAAATCTTTTATTTGTCGCTCAGGCCTCACTAAACATCGAATAAGACATACTGGAGAGAGCCTTACAACTAAACTCAATGGATCTTTGACATT
CAGGGATGTGGCTGTAGAATTCTCTCAGGAGGAGTGGAAATGCCTGGACCCTGTTCAGAAAGCTTTGTACAGGGACGTGATGTTGGAGAACTACAGGAAC
CTCGGCTTCCTGGGACTCTGTCTTCCTGACCTGAATATTATCTCCATGTTGGAGCAAGGGAAAGAGCCCTGGACTGTGGTGAGCCAAGTGAAAATAGCGA
GGAACCCAAACTGTGGGGAATGCATGAAAGGCGTGATCACCGGTAAGAGCTCAGATGGGCACAATGGAAGCGGTACCATGAAATTGTGTGCGGAAAAACC
TTACATAGGTAATGAGTGTGGCAAAGCCTTCAGAGTGTCTTCAAGTCTTATTAATCATCAGATGATACATACTACAGAGAAACCTTACAGATGCAATGAG
TCTGGTAAAGCCTTTCATCGGGGCTCACTACTAACAGTACATCAGATAGTCCATACAAGAGGGAAACCATACCAATGTGATGTATGTGGCAGGATCTTCA
GACAAAATTCAGATCTTGTAAATCACCGGAGAAGTCACACTGGAGACAAACCCTACATATGTAATGMATGTGGCAAGTCCTTTAGTAAAAGTTCCCACCT
TGCAGTTCATCAGAGAATTCATACTGGAGAGAAACCTTACAAATGTAATCGATGTGGGAAGTGCTTTAGTCAAAGTTCCTCTCTTGCAACTCATCAGACA
GTTCATACTGGAGACAAACCCTACAAATGTAATGAATGTGGCAAAACCTTTAAACGGAACTCAAGCCTCACTGCACATCATATAATCCATGCAGGAAAGA
AACCATATACATGTGATGTATGTGGCAAGGTCTTTTATCAGAATTCACAACTTGTAAGGCACCAGATAATTCATACTGGAGAGACACCTTACAAATGTAA
TGAATGTGGCAAGGTCTTCTTTCAACGTTCACGTCTTGCAGGGCACCGGAGAATTCATACTGGAGAGAAACCCTACAAATGTAATGAATGTGGCAAGGTC
TTCAGTCAACATTCACATCTTGCAGTGCATCAGAGAGTTCATACTGGAGAGAAACCTTACAAATGTAATGAATGTGGCAAAGCCTTTAATTGGGGCTCAT
TACTAACTGTACATCAGAGAATTCATACCGGAGAGAAACCTTACAAATGTAATGTTGAATGTGGTAGAACTTTTAGTCATAAAACAAGTCTGGTGTACCA
TCAGAGAAGACATACTGGAGAGATGCCATACAAATGTATTGAATGTGGGAAAGTCTTTAACTCCACTACAACCCTGGCAAGGCATCGGAGAATTCATACT
GGAGAGAAACCTTACAAATGTAATGAATGTGGCAAGGTCTTCCGTTATCGCTCAGGCCTCGCACGTCATTGGAGTATTCATACTGGAGAGAAACCTTACA
AATGTAATGAGTGTGGCAAAGCCTTTAGAGTACGTTCAATTCTGCTTAATCATCAGATGATGCATACTGGAGAGAAACCTTATAAATGTAATGAATGTGG
TAAAGCTTTTATYGAAAGGTCAAACTTGGTTTACCATCAGAGAAACCATACTGGAGAGAAGCCATACAAATGTATGGAATGTGGCAAGGCGTTTGGGCGG
CGGTCTTGCCTCACTAAACACCAACGAATTCATTCTAGTGAAAAACCTTATAAATGTAATGATGAATGTGGAAAAGTCTTCACTATGAAGAGCCGTCTGA
TTGAACATCAGCGAACTCATACTGGAGAGAAACCCTACATATGCAATGAATGTGGAAAAGGCTTCCCAGGCAAGCGTAATCTCATTGTACATCAGCGAAA
TCATACTGGAGAGAAATCCTATATATGTAGTGAATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAGCGAACTCATACAGGAGAGAAG
CCCTACATCTGTAGTGAATGTGGGAAAGGCTTCMCCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAGAGAAACCATATATATGCAATG
AATGTGGGAAAGGCTTCACCATGAAGAGCCGTATGATCGAACATCAACGAACTCATACAGGAGAGAAACCCTACATATGCAGTGAATGTGGAAAAGGCTT
TCCCAGGAAGAGTAATCTTATTGTACATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAAGGTTTTACTGTGAAAAGCATG
CTCATCATACATCAGCGAACTCATACMGGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGAGTCGGCTGATTGTACATCAGC
GAACTCATACTGGAGAGAAACCTTACAGGTGCAGTGAATGTGGGAAAGGTTTCATTGTGAATAGCGGACTGATGTTACATCAGCGAACTCATACTGGAGA
GAAACCGTACATATGCAATGAATGTGGAAAAGGTTTTGCCTTTAAGAGCAATCTTGTTGTACACCAGCGAACTCATACTGGAGAGAAACCCTTTATGTGC
AGTGAATGTGGAAAAGGCTTCACCATGAAACGCTATCTCATTGTACATCAGCAAATTCATACAGAAGAGAAATCTTAAGAGAAATCCTATATGTGCAGTG
AGTGTGGAAAGGGCTTTACAATGAAGCGCTATCTAATTGCTCATCAGCGAACTCATAGTGGAGAGAAACCTTATGTGTGCAAAGAATGTGGAAAAGGTTT
CACTGTGAAGAGCAATCTCATTGTACATCAGCGAACTCATACAGGGGAGAAACCCTATATATGCAGTGAATGTGGAAAAGGCTTCACCATGAAGCGCTAT
CTTGTTGTACATCAGCGAACTCATACTGGAGAGAAACCCTATATGTGCAGTGAATGTGGAAAAGGCTTTACCGTGAAGAGCAATCTCATTGTACATCAGC
GCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCACTCTCRTTATACATCAGCGAACTCATACAGGAGA
GAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAGCGAACTCATACAGGAGAAAAACCCTATGAATGC
AATGAATGTGGTAAAGCCTTCAGCCAGAAAATATGCCTCATACAACATGAGAGATGTCATACAGGAAAGACTCCCTTTGTATGTACCGAGTGCGGAAAAT
CCTATTCACACAAATATGGCCTCATTACCCATCAGAGAATTCACACAGGAGAGAAACCTTATGAGTGCAATGAATGTGGAAAAGCCTTCACCACAAAGTC
AGTACTCAATGTACATCAAAGAACGCATACAGGAGAGAGGCCGTATGGATGCAGTGATTGTGAGAAAGCCTTCTCCCACTTATCAAACCTTGTCAAACAT
AAGAAAATGCACACAAGAGAAATGGGTAGAATCAGTCAAGTTGAAAACTCCTGTAATGGAGAGTCACAGCTCCTTCCTTATAAGTGAACTCATGCAGAAG
AAAACCCTACTAGTGCCGTGACTATGGAAATGCCTTTTGTGGCAACTCAGACTTCATTAAACATCAGTGTGTTTCTAGCCAATTGGAACATAAACATGGT
GCTGCCTGTTGACAGATGTGTGTCTGTCCTCAGGAGGTGAAATAATTTGCCCTAGAGATCAATTTGATGAATACAGTAAATAAGGTAGTGCCTTTAGTGG
TCTTTTACCTCATATTTTCTGTCAATGAAAATACGTTGAATAAACTATATTAATGTGG

Protein Sequence    (SEQ ID NO:996):
MATQGHLTFKDVAIEFSQEEWKCLEPVQKALYKDVMLENYRNLVFLGISPKCVIKELPPTENSNTGERFQTVALERHQSYDIENLYFREIQKHLHDLEFQ
WKDGETNDKEVPVPHENNLTVHTGERPFKCNECGKTFKRSSNLTVHQVIHAGKKPYKCDVCGKAFRHRSNLVCHRRIHSGEKQYKCNECGKVFSKRSSLA
VHRRIHTVEKPCKCNECGKVFSKRSSLAVHQRIHTGQKTYKCNKCGKVYSKHSHLAVHWRIHTGEKAYKCNECGKVFSIHSRLAAHQRIHTGEKPYKCNE
CGKVFSQHSRLAVHRRIHTGEKPYKCKECGKVFSDRSAFARHRRIHTGEKPYKCKECGKVFSQCSRLTVHRRIHSGEKPYKCNECGKVYSQYSHLVGHRR
VHTGEKPYKCHECGKAFNQGSTLNRHQRIHTGEKPYKCNQCGNSFSQRVHLRLHQTVHTGDRPYKCNECGKTFKRSSNLTAHQIIHAGKKPYKCDECGKV
FRHSSHLVSHQRIHTGEKRYKCIECGKAFGRLFSLSKHQRIHSGKKPYKCNECGKSFICRSGLTKHRIRHTGESLTTKLNGSLTFRDVAVEFSQEEWKCL
DPVQKALYRDVMLENYRNLGFLGLCLPDLNIISMLEQGKEPWTVVSQVKIARNPNCGECMKGVITGKSSDGHNGSGTMKLCAEKPYIGNECGKAFRVSSS
LINHQMIHTTEKPYRCNESGKAFHRGSLLTVHQIVHTRGKPYQCDVCGRIFRQNSDLVNHRRSHTGDKPYICNECGKSFSKSSHLAVHQRIHTGEKPYKC
NRCGKCFSQSSSLATHQTVHTGDKPYKCNECGKTFKRNSSLTAHHIIHAGKKPYTCDVCGKVFYQNSQLVRHQIIHTGETPYKCNECGKVFFQRSRLAGH
RRIHTGEKPYKCNECGKVFSQHSHLAVHQRVHTGEKPYKCNECGKAFNWGSLLTVHQRIHTGEKPYKCNVECGRTFSHKTSLVYHQRRHTGEMPYKCIEC
GKVFNSTTTLARHRRIHTGEKPYKCNECGKVFRYRSGLARHWSIHTGEKPYKCNECGKAFRVRSILLNHQMMHTGEKPYKCNECGKAFIERSNLVYHQRN
HTGEKPYKCMECGKAFGRRSCLTKHQRIHSSEKPYKCNDECGKVFTMKSRLIEHQRTHTGEKPYICNECGKGFPGKRNLIVHQRNHTGEKSYICSECGKG
FTGKSMLIIHQRTHTGEKPYICSECGKGFTTKHYVIIHQRNHTGEKPYICNECGKGFTMKSRMIEHQRTHTGEKPYICSECGKGFPRKSNLIVHQRNHTV
EKSYLCSECGKGFTVKSMLIIHQRTHTGEKPYTCSECGKGFPLKSRLIVHQRTHTGEKPYRCSECGKGFIVNSGLMLHQRTHTGEKPYICNECGKGFAFK
SNLVVHQRTHTGEKPFMCSECGKGFTMKRYLIVHQQIHTEEKS


SNP Information

Context             (SEQ ID NO:5734):
ATCAGAGAAATCATACAGTAGAGAAGTCATATCTATGTAGTGAATGTGGAAAAGGTTTTACTGTGAAAAGCATGCTCATCATACATCAGCGAACTCATAC
M
GGAGAGAAGCCCTACACATGCAGTGAATGTGGGAAAGGCTTCCCCTTGAAGAGTCGGCTGATTGTACATCAGCGAACTCATACTGGAGAGAAACCTTACA
Celera SNP ID:            hCV11526752
SNP Position Transcript:  4227
SNP Source:               Applera
Population(Allele,Count): african american(A,10|C,20)   caucasian(A,15|C,15)   total(A,25|C,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 1327, (T,ACA)   (T,ACC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,17)   caucasian(C,2)   total(A,9|C,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 1327, (T,ACA)   (T,ACC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|A,8)   total(A,8|C,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 1327, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:5735):
CCATACCAATGTGATGTATGTGGCAGGATCTTCAGACAAAATTCAGATCTTGTAAATCACCGGAGAAGTCACACTGGAGACAAACCCTACATATGTAATG
M
ATGTGGCAAGTCCTTTAGTAAAAGTTCCCACCTTGCAGTTCATCAGAGAATTCATACTGGAGAGAAACCTTACAAATGTAATCGATGTGGGAAGTGCTTT
Celera SNP ID:            hCV25942302
SNP Position Transcript:  2567
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,34)   total(A,71|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 774, (E,GAA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 774, (E,GAA)   (A,GCA)      



Context             (SEQ ID NO:5736):
CAGGGCTCCACACTCAATAGACATCAGAGAATTCATACCGGAGAGAAACCTTACAAATGCAATCAGTGTGGGAATTCCTTTAGTCAGCGTGTCCATCTTA
R
ACTTCATCAGACTGTTCATACTGGAGACAGACCTTACAAATGTAATGAGTGTGGCAAAACCTTTAAACGGAGCTCAAACCTCACTGCACATCAGATAATT
Celera SNP ID:            hCV25955704
SNP Position Transcript:  1601
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,12)   caucasian(A,1|G,35)   total(A,5|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 452, (K,AAA)   (R,AGA)   



Context             (SEQ ID NO:5737):
TTGTACAAGGATGTGATGTTGGAGAACTATAGGAACCTGGTCTTCCTAGGTATCTCTCCTAAATGTGTGATCAAGGAATTACCACCAACAGAGAACAGTA
R
TACAGGAGAAAGGTTCCAAACAGTGGCACTGGAAAGACATCAAAGCTATGATATTGAAAATTTATACTTCAGGGAAATACAGAAACATCTACATGACCTT
Celera SNP ID:            hCV25955050
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,40)   total(A,71|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 64, (N,AAT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,32)   total(A,61|G,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 64, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:5738):
GTGGCAAAGCCTTTAGAGTACGTTCAATTCTGCTTAATCATCAGATGATGCATACTGGAGAGAAACCTTATAAATGTAATGAATGTGGTAAAGCTTTTAT
Y
GAAAGGTCAAACTTGGTTTACCATCAGAGAAACCATACTGGAGAGAAGCCATACAAATGTATGGAATGTGGCAAGGCGTTTGGGCGGCGGTCTTGCCTCA
Celera SNP ID:            hCV25933797
SNP Position Transcript:  3513
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,30)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 1089, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:5739):
ACAAATGCAAAGAATGTGGCAAGGTCTTCAGTCAATGTTCACGTCTTACAGTGCATCGGAGAATTCATAGTGGAGAGAAACCTTACAAATGCAATGAATG
Y
GGCAAGGTCTACAGTCAGTATTCACATCTTGTAGGGCATCGAAGAGTTCATACTGGAGAGAAACCATACAAATGTCATGAATGTGGCAAAGCCTTTAATC
Celera SNP ID:            hCV25955619
SNP Position Transcript:  1401
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,38)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 385, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:5740):
GCTTTTGCAAGGCATCGGAGAATTCATACTGGAGAGAAGCCTTACAAATGCAAAGAATGTGGCAAGGTCTTCAGTCAATGTTCACGTCTTACAGTGCATC
K
GAGAATTCATAGTGGAGAGAAACCTTACAAATGCAATGAATGCGGCAAGGTCTACAGTCAGTATTCACATCTTGTAGGGCATCGAAGAGTTCATACTGGA
Celera SNP ID:            hCV26638855
SNP Position Transcript:  1358
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 371, (R,CGG)   (L,CTG)      



Context             (SEQ ID NO:5741):
TTCAGTAAACGTTCAAGTCTTGCAGTGCATCAGAGAATTCATACTGGACAGAAAACTTACAAATGCAATAAATGTGGCAAGGTGTACAGTAAGCATTCAC
R
TCTTGCAGTGCATTGGAGAATTCATACCGGCGAGAAAGCTTATAAATGCAATGAATGTGGCAAAGTTTTCAGCATACATTCACGACTTGCAGCTCATCAG
Celera SNP ID:            hCV25955000
SNP Position Transcript:  1007
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,12)   caucasian(A,34|G,2)   total(A,40|G,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 254, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIC-allele(G,304|A,1179)   total(G,304|A,1179) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 254, (R,CGT)   (H,CAT)      254, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:5742):
CATACAAATGTCATGAATGTGGCAAAGCCTTTAATCAGGGCTCCACACTCAATAGACATCAGAGAATTCATACCGGAGAGAAACCTTACAAATGCAATCA
R
TGTGGGAATTCCTTTAGTCAGCGTGTCCATCTTAGACTTCATCAGACTGTTCATACTGGAGACAGACCTTACAAATGTAATGAGTGTGGCAAAACCTTTA
Celera SNP ID:            hCV25955298
SNP Position Transcript:  1566
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(A,1|G,35)   total(A,1|G,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:996, 440, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:5743):
ATGTGGAAAAGGCTTCACTGGGAAGAGCATGCTTATTATACATCAGCGAACTCATACAGGAGAGAAGCCCTACATCTGTAGTGAATGTGGGAAAGGCTTC
M
CCACAAAACACTATGTCATCATACATCAACGAAATCATACAGGAGAGAAACCATATATATGCAATGAATGTGGGAAAGGCTTCACCATGAAGAGCCGTAT
Celera SNP ID:            hCV25741648
SNP Position Transcript:  3934
SNP Source:               Applera
Population(Allele,Count): african american(A,2)   caucasian(A,3|C,1)   total(A,5|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 1230, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:5744):
CTCTCAGGAGGAGTGGAAATGCCTGGAGCCTGTGCAGAAAGCTTTGTACAAGGATGTGATGTTGGAGAACTATAGGAACCTGGTCTTCCTAGGTATCTCT
Y
CTAAATGTGTGATCAAGGAATTACCACCAACAGAGAACAGTAATACAGGAGAAAGGTTCCAAACAGTGGCACTGGAAAGACATCAAAGCTATGATATTGA
Celera SNP ID:            hCV7797088
SNP Position Transcript:  394
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,33|T,7)   total(C,70|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 50, (P,CCT)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:996, 50, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:5745):
CGTGAAGAGCAATCTCATTGTACATCAGCGCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCACTCTC
R
TTATACATCAGCGAACTCATACAGGAGAGAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAGCGAAC
Celera SNP ID:            hCV25986512
SNP Position Transcript:  4972
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,16)   caucasian(A,14|G,26)   total(A,26|G,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:996, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:996, None   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296344 - 107000109464877
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874545 - 197000069407809
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1873234..1890395)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:300):
AGACATTCCAAGCTAGAATTTCTGGGGATGGGGTTCGGACTCTGCATTTATAAAAAGAGCCTTCTTAAATTTGAACATCTCTGCCCTAAATTGTGGATTG
GTGCTCCCATCACCATTCCCACACTGTAACAGGATGGATTCAGGGCAGATTGTCTCCAGCAATGAATCAGACAAAAGTGCTCCACCAACCAGGCCCTTGA
ATCACCTTCCTTGTCCCGTGAATCAGCACAGCCTGCCACGGCAAAGTTKTATCAGCCCACTCCTGGAAATGATCAGTGAAGGTCCCATCATGGGCTGCTC
ATAGTCCTGTGGACCAGGTGCTAAACTTACCTACCAGAGATTAACATTCCAGATGAACGGGGCTGAAATTTAATCCTGGATGGAATATGTTATAACACTC
AAGAAATACGAACATGAAATTCTTATTCTCTAGAAATTACAAAACTCCTCAGGTCCTGGCTCCCAGAAGCAAAATAACTCAAGTGAAGCAATGAAGGAAG
AAGAAGGAGGTTGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCARAAACTTCATGGCAA
RTGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAKCACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTG
GCTGTGGAATTCAGCTGGGAGGAGTGGCAGCTCCTGGACACTGCTCAGAAGAACCTGTACCGGGATGTGATGGTGGAGAACTATAACCACCTAGTATCAC
TGGGGTATCAAACTAGCAAACCAGATGTACTCTCCAAGTTGGCACATGGACAAGAACCATGGAYAACAGATGCTAAAATTCAGAATAAAAATTGTCCAGG
AATCGGGAAAGTTGACAGTCATCTGCAAGAGCACTCTCCAAACCAAAGACTTCTGAAGAGCGTGCAGCAATGCAATGGACAGAATACACTTAGAAATATT
GTACATCTCAGCAAGACACATTTTCCTATAGTGCAAAATCATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAGA
AGAGAAGACATGGAATAAATAACCCTGTTGAGTTTATTGRAGAGACAGGGTCTCTTGAGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGAAGTTCAAGA
CCAGCCTGGCCAACGTGGCGAAACCCTGTGTCTACTAAAAATACACACAAAAAAT

Protein Sequence    (SEQ ID NO:997):
MIKTQESLTLEDVAVEFSWEEWQLLDTAQKNLYRDVMVENYNHLVSLGYQTSKPDVLSKLAHGQEPWTTDAKIQNKNCPGIGKVDSHLQEHSPNQRLLKS
VQQCNGQNTLRNIVHLSKTHFPIVQNHDTFDLYRKNLKSSLSLINQKRRHGINNPVEFIGETGSLERPRQADHLRSEVQDQPGQRGETLCLLKIHTKN


SNP Information

Context             (SEQ ID NO:5746):
ATTGTCTCCAGCAATGAATCAGACAAAAGTGCTCCACCAACCAGGCCCTTGAATCACCTTCCTTGTCCCGTGAATCAGCACAGCCTGCCACGGCAAAGTT
K
TATCAGCCCACTCCTGGAAATGATCAGTGAAGGTCCCATCATGGGCTGCTCATAGTCCTGTGGACCAGGTGCTAAACTTACCTACCAGAGATTAACATTC
Celera SNP ID:            hCV1129591
SNP Position Transcript:  249
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,4)      total(G,2|T,4) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:997, None   



Context             (SEQ ID NO:5747):
AAGTGGACACTAATATTTCTGACTAGGAAAACTTCAAAAACTTCATGGCAAATGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGA
K
CACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTGGCTGTGGAATTCAGCTGGGAGGAGTGGCAGCTCCTGGACACTGCTCAGAA
Celera SNP ID:            hCV25987483
SNP Position Transcript:  650
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,38)   total(G,67|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:997, None



Context             (SEQ ID NO:5748):
AAGAAGGAGGTTGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCAAAAACTTCATGGCAA
R
TGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAGCACAGAAGAAAATGATCAAGACCCAGGAATCACTGACCCTGGAGGATGTGG
Celera SNP ID:            hCV29188621
SNP Position Transcript:  601
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:997, None   



Context             (SEQ ID NO:5749):
AAGCAATGAAGGAAGAAGAAGGAGGTTGCTGGCCTTGGATATCATAATTTCTGGGGACAACTTTAAGTGGACACTAATATTTCTGACTAGGAAAACTTCA
R
AAACTTCATGGCAAATGCAGAAGAGACAAAGACGTATAGTCCATGTTATCCACTATTTTCTGAGCACAGAAGAAAATGATCAAGACCCAGGAATCACTGA
Celera SNP ID:            hCV25987606
SNP Position Transcript:  586
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,5)   caucasian(A,34|G,4)   total(A,57|G,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:997, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:997, None   



Context             (SEQ ID NO:5750):
CATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAGAAGAGAAGACATGGAATAAATAACCCTGTTGAGTTTATTG
R
AGAGACAGGGTCTCTTGAGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACGTGGCGAAACCCTGTGTCTACTAAAA
Celera SNP ID:            hCV25928020
SNP Position Transcript:  1140
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,2|G,34)   total(A,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:997, 160, (E,GAA)   (G,GGA)   



Context             (SEQ ID NO:5751):
GATGTGATGGTGGAGAACTATAACCACCTAGTATCACTGGGGTATCAAACTAGCAAACCAGATGTACTCTCCAAGTTGGCACATGGACAAGAACCATGGA
Y
AACAGATGCTAAAATTCAGAATAAAAATTGTCCAGGAATCGGGAAAGTTGACAGTCATCTGCAAGAGCACTCTCCAAACCAAAGACTTCTGAAGAGCGTG
Celera SNP ID:            hCV25924133
SNP Position Transcript:  864
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,19)   caucasian(C,24|T,14)   total(C,33|T,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:997, 68, (T,ACA)   (I,ATA)   



Gene Number:                 105
Celera Gene:                 hCG2008146 - 107000109464765
Celera Transcript:           hCT2296346 - 107000109464766
Public Transcript Accession: NM_014650
Celera Protein:              hCP1874530 - 197000069407794
Public Protein Accession:    NP_055465
Gene Symbol:                 ZNF432
Protein Name:                zinc finger protein 432;KIAA0798
Celera Genomic Axis:         GA_x5YUV32VY4T(1873416..1877454)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:301):
GAATCGGGAAAGTTGACAGTCATCTGCAAGAGCACTCTCCAAACCAAAGACTTCTGAAGAGCGTGCAGCAATGCAATGGACAGAATACACTTAGAAATAT
TGTACATCTCAGCAAGACACATTTTCCTATAGTGCAAAATCATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAG
AAGAGAAGACATGGAATAAATAACCCTGTTGAGTTTATTGRAGGTGAGAAAACACTTCTACATGGTAAGCATGAACGTACGCATACTAAAACTAGATTTT
CTGAAAATGCAAAATGTATCCATACTAAATTCCAAGTCTTCAAGCATCAGAGGACTCAGAAAATTGAGAAACCCCATGCATGCATTGAATGTGAGCAAAC
CTTCCTTAGGAAGTCTCAGCTCATTTACCRTGAGAACATTTGTATACAAGAGAATCCTGGAAGTGGTCAATGTGAGAAATTATCCAGAAGTGTCCTGTTC
ACTAAGCATCTGAAAACTAATACAACAGACAAAATCTGTATACCCAATGAATATAGAAAAGGCTCTACTGTGAAGAGTAGTCTCATTACACATCAACAAA
CCCATACAGAAGAGAAATCCTATATGTGCAGTGAGTGTGGAAAGGGCTTTACAATGAAGCGCTATCTAATTGCTCATCAGCGAACTCATAGTGGAGAGAA
ACCTTATGTGTGCAAAGAATGTGGAAAAGGTTTCACTGTGAAGAGCAATCTCATTGTACATCAGCGAACTCATACAGGGGAGAAACCCTATATATGCAGT
GAATGTGGAAAAGGCTTCACCATGAAGCGCTATCTTGTTGTACATCAGCGAACTCATACTGGAGAGAAACCCTATATGTGCAGTGAATGTGGAAAAGGCT
TTACCGTGAAGAGCAATCTCATTGTACATCAGCGCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCAC
TCTCRTTATACATCAGCGAACTCATACAGGAGAGAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAG
CGAACTCATACAGGAGAAAAACCCTATGAATGCAATGAATGTGGTAAAGCCTTCAGCCAGAAAATATGCCTCATACAACATGAGAGATGTCATACAGGAA
AGACTCCCTTTGTATGTACCGAGTGCGGAAAATCCTATTCACACAAATATGGCCTCATTACCCATCAGAGAATTCACACAGGAGAGAAACCTTATGAGTG
CAATGAATGTGGAAAAGCCTTCACCACAAAGTCAGTACTCAATGTACATCAAAGAACGCATACAGGAGAGAGGCCGTATGGATGCAGTGATTGTGAGAAA
GCCTTCTCCCACTTATCAAACCTTGTCAAACATAAGAAAATGCACACAAGAGAAATGGGTAGAATCAGTCAAGTTGAAAACTCCTGTAATGGAGAGTCAC
AGCTCCTTCCTTATAAGTGAACTCATGCAGAAGAAAACCCTACTAGTGCCGTGACTATGGAAATGCCTTTTGTGGCAACTCAGACTTCATTAAACATCAG
TGTGTTTCTAGCCAATTGGAACATAAACATGGTGCTGCCTGTTGACAGATGTGTGTCTGTCCTCAGGAGGTGAAATAATTTGCCCTAGAGATCAATTTGA
TGAATACAGTAAATAAGGTAGTGCCTTTAGTGGTCTTTTACCTCATATTTTCTGTCAATGAAAATACGTTGAATAAACTATATTAATGTGGAGATGTTTT
GAGCAATAATTTCTGCTCATATGTCTGAAAAGTATACAGAGATAAATTCTGTGAATACAAAGACTAAGAAAAGTCTTCTGTGGAAAGATAGACTTTATTA
TCAGGTTTCATCATAGATTTCAACGTAAGTGAGCTTATTGTTGATAGAAACATGATGACCATGACAAAGTCTTTACTCAGAAATATGACCTCAGTGAGTG
TCAAAGTTTACACTGGAAAATAACTTTAAGGTGACAGTATTGATGGCAGGATTTCAGCGACGCACTCTGCTTCATCATTTGTCAGGAGATCACATAGAAA
GTAAAATTGTTCCGAACATGCTATCAAATAAATGTGGAACACCTTTAGCAAACTATCAACAGCTCATGAAGGCATGAAATGTGGTGAAAATGATGAATAT
TTGAGTGCTTTTTCTTAATAAGTATAACCTTAAACATCAGCTAATACACCTGGTGTGCATTTTCAGTCAGGATACCTTAATCCTCATTTCTAGTTGCCTT
GCCAATGATTCCATAATATACTGTCTCATTACTGTTTATTTTTACTGTTGTGTAAAATTGTGGTATAATGAGAAATACATTTGGTCTTTGTTCCTGGTTC
CTGGCATAGAGCTCCTAAAACGCTTAGAATTTCATGAGTGATAAGAGTTTTTTGGTTTTGTTTTGTTTTTGCTGTTGTTGTTATTCATAGCACTGCCCTT
TTAATTACACCTGATTATACTACTGAAGTGACTTATGGTTGCTCCCCTAGACAGCCTCAGAATGGGGCTGTTCTCTAGGAAGATCAAGTAACTAGAGGAT
GGAGACTTTGTGCCCCATTTCTCCCACCTCCTGGAAGGGGAGGGGTGCTGGAGATTAGATTAGACAATGAGATTAAGAGAACTCCAAATAGCCCAAGAGG
GTGGTGCACCCCCAACTTYATAGGGGTAGAGGCTCCTGAGATTAGGAGAACCCTTTTTAGGCTTTACTCTATGTACCTCTTCATTTGAGTGTTCATTTGC
GTCCTTTATAACCAGTAAAACAAAGTACGCTGTTTTCTTGAGTTTTGTGAGCCCTGTAGCAAATTATCAAACCTGAGTAGGGCAGTGGGAACTCGGAATT
TATCACCATTCAGAACTGCAGGTTGTCCTTGTGAGTGGCATCTGATGTGGGGGAAGTCTTGGACTGAGCCCCTTAACTTGTGGAGTCTGCACTAATTTAG
ACTGCACTAACTAACTTGCACTGCACTAACTTGGACTGCACTAACTTGTGGAGTCTGCACTAACTTGGAGAAGTTAGTGTCAGAATTGAATTRTAGAACA
CCCAGTTGTTCAGAATTGAATTGTAGAACACCCAATTGGTGTGGGAGAATTAGAGAATTTATTTGTGTCAGAAAATACTCCAGAACAACCACCCCATATT
ATGATTAGCTCTTTTCCTTTCTTTGGCTCTGAGCTTAATTGTACATTAAGCAAACTTAAGTAGAAAAGAAACTGAATATGTTAAATATATTAAHAACATA
TTTGGACTTGCTTAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACTYGAAATTGCAAAAGCAGTCTAGAGGC
TTTGCTAGTATCCTTCAACCAATTTCTAGTAAAAATATCCTATATAACCATAATTATCAAAACCAGAAAAACAACATTGGTAGGATACTATAAAGTACTA
ATCTTATTTTGGATTTGACGAATTTTTACATGTTTTTTTCTTTTTTAGTTTGTACTCTAAGAAGTTGTATTACATGTACAGATTCGTGTAACCACTGCAA
CCACATAAAACTAATGAACACAAAGTCCCTCATGCTACCTTTTTATGCTTACACTCCATCCAAACCTAACTCTGCCAACCACTTTTCTCCTATCAGTATA
ATTTCATCATTTCATGAATATGATAAAAATAAAATTGTTTTTGTAAATGGTTTTTATAAATTTTATATAAATAAGTTATATGAATTTTTATTGATAGAGA
GTATGTAAGCTTTTGGCATTTTTGTCACTCAGCAAATTACTCCTAAGGTTTATATGAGTTGATGAATAGTTGTTTTATTATTTTTTTTTACCACCATGTA
TCTAACCAGATGAAAGTTGTTTATATTTGAGAGTAGTATACATATTTGATGTAGTAGTTTATCCATTCACCTATGAGATATATTTGCACTGTTTTCCTGG
TTTTAAGTGCTATAAATAAAGATGCTGTGAAATCTACA

Protein Sequence    (SEQ ID NO:998):
MCSECGKGFTMKRYLIAHQRTHSGEKPYVCKECGKGFTVKSNLIVHQRTHTGEKPYICSECGKGFTMKRYLVVHQRTHTGEKPYMCSECGKGFTVKSNLI
VHQRSHTGEKSYICSECGKGFTVKRTLVIHQRTHTGEKSYICNECGKGFTTKRTLIIHQRTHTGEKPYECNECGKAFSQKICLIQHERCHTGKTPFVCTE
CGKSYSHKYGLITHQRIHTGEKPYECNECGKAFTTKSVLNVHQRTHTGERPYGCSDCEKAFSHLSNLVKHKKMHTREMGRISQVENSCNGESQLLPYK


SNP Information

Context             (SEQ ID NO:5752):
AATATGTTAAATATATTAACAACATATTTGGACTTGCTTAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACT
Y
GAAATTGCAAAAGCAGTCTAGAGGCTTTGCTAGTATCCTTCAACCAATTTCTAGTAAAAATATCCTATATAACCATAATTATCAAAACCAGAAAAACAAC
Celera SNP ID:            hCV1597636
SNP Position Transcript:  3375
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,9)   total(C,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:998, None   



Context             (SEQ ID NO:5753):
TTCTCCCACCTCCTGGAAGGGGAGGGGTGCTGGAGATTAGATTAGACAATGAGATTAAGAGAACTCCAAATAGCCCAAGAGGGTGGTGCACCCCCAACTT
Y
ATAGGGGTAGAGGCTCCTGAGATTAGGAGAACCCTTTTTAGGCTTTACTCTATGTACCTCTTCATTTGAGTGTTCATTTGCGTCCTTTATAACCAGTAAA
Celera SNP ID:            hCV7807120
SNP Position Transcript:  2719
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:998, None   



Context             (SEQ ID NO:5754):
CGTGAAGAGCAATCTCATTGTACATCAGCGCTCCCACACAGGAGAAAAATCTTACATATGCAGCGAATGTGGAAAAGGCTTCACTGTCAAACGCACTCTC
R
TTATACATCAGCGAACTCATACAGGAGAGAAATCTTACATATGCAATGAATGTGGTAAAGGCTTCACCACAAAGCGCACTCTTATTATACATCAGCGAAC
Celera SNP ID:            hCV25986512
SNP Position Transcript:  1005
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,16)   caucasian(A,14|G,26)   total(A,26|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:998, 128, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:998, 128, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:5755):
TTCCAAGTCTTCAAGCATCAGAGGACTCAGAAAATTGAGAAACCCCATGCATGCATTGAATGTGAGCAAACCTTCCTTAGGAAGTCTCAGCTCATTTACC
R
TGAGAACATTTGTATACAAGAGAATCCTGGAAGTGGTCAATGTGAGAAATTATCCAGAAGTGTCCTGTTCACTAAGCATCTGAAAACTAATACAACAGAC
Celera SNP ID:            hCV25988416
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,7)   caucasian(A,39|G,1)   total(A,68|G,8)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:998, None



Context             (SEQ ID NO:5756):
CCATATTATGATTAGCTCTTTTCCTTTCTTTGGCTCTGAGCTTAATTGTACATTAAGCAAACTTAAGTAGAAAAGAAACTGAATATGTTAAATATATTAA
H
AACATATTTGGACTTGCTTAACTAAGATTATAGAGATGATCAGTTTATAAAACCACCTTCAACTTAAATAAATTTGAACTCGAAATTGCAAAAGCAGTCT
Celera SNP ID:            hCV26638816
SNP Position Transcript:  3294
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3|A,3|-,8)   total(A,3|C,3|-,8|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:998, None   



Context             (SEQ ID NO:5757):
TAATTTAGACTGCACTAACTAACTTGCACTGCACTAACTTGGACTGCACTAACTTGTGGAGTCTGCACTAACTTGGAGAAGTTAGTGTCAGAATTGAATT
R
TAGAACACCCAGTTGTTCAGAATTGAATTGTAGAACACCCAATTGGTGTGGGAGAATTAGAGAATTTATTTGTGTCAGAAAATACTCCAGAACAACCACC
Celera SNP ID:            hCV1597640
SNP Position Transcript:  3093
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,4)   total(G,2|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:998, None   



Context             (SEQ ID NO:5758):
CATGATACATTTGACTTGTACAGAAAAAATTTGAAATCAAGTTTAAGTTTAATCAACCAGAAGAGAAGACATGGAATAAATAACCCTGTTGAGTTTATTG
R
AGGTGAGAAAACACTTCTACATGGTAAGCATGAACGTACGCATACTAAAACTAGATTTTCTGAAAATGCAAAATGTATCCATACTAAATTCCAAGTCTTC
Celera SNP ID:            hCV25928020
SNP Position Transcript:  241
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,2|G,34)   total(A,2|G,42)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:998, None



Gene Number:                 106
Celera Gene:                 hCG2009092 - 207000007139537
Celera Transcript:           hCT2297842 - 207000007139601
Public Transcript Accession: NM_018482
Celera Protein:              hCP1850557 - 207000007139610
Public Protein Accession:    NP_060952
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W2RH(44209643..44585423)
Chromosome:                  Chr8
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:302):
CATTGCATTGAGAGGATATTCAAACTGAAGGGGAGAAGCACGGATTCTGAAGGATGAAAAAGGAACAATGTCGTTTTCTGATGTGACGGCTGAGACATGA
GATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGAGATTCACTATGGAATCGATATCCAGGAATGATTTTCAGAGTATTTGAGAAAATGAGAGGTGC
AGATGGTTTTCACTGAGGCATGGTTTCAAATTTAAAGAGGATTATGGCCCAGAAATGGATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACC
ACCGAGGACTACAACTCGCCCACCACGTCCAGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAGGCTCTAGACCAAGATA
GAACAGCCCTTCAGAAAGTGAAGAAGTCTGTAAAAGCAATATATAATTCTGGTCAAGATCATGTACAAAATGAAGAAAACTATGCACAAGTTCTTGATAA
GTTTGGGAGTAATTTTTTAAGTCGAGACAACCCCGACCTTGGCACYGCGTTTGTCAAGTTTTCTACTCTTACAAAGGAACTGTCCACACTGCTGAAAAAT
CTGCTCCAGGGTTTGAGCCACAATGTGATCTTCACCTTGGATTCTTTGTTAAAAGGAGACCTAAAGGGAGTCAAAGGAGATCTCAAGAAGCCATTTGACA
AAGCCTGGAAAGATTATGAGACAAAGTTTACAAAAATTGAGAAAGAGAAAAGAGAGCACGCAAAACAACATGGGATGATCCGCACAGAGATAACAGGAGC
TGAGATTGCGGAAGAAATGGAGAAGGAAAGGCGCCTCTTTCAGCTCCAAATGTGTGAATATCTCATTAAAGTTAATGAAATCAAGACCAAAAAGGGTGTG
GATCTGCTGCAGAATCTTATAAAGTATTACCATGCACAGTGCAATTTCTTTCAAGATGGCTTGAAAACAGCTGATAAGTTGAAACAGTACATTGAAAAAC
TGGCTGCTGATTTATATAATATAAAACAGACCCAGGATGAAGAAAAGAAACAGCTAACTGCACTCCGAGACTTAATAAAATCCTCTCTTCAACTGGATCA
GAAAGAAGATTCTCAGAGCCGGCAAGGAGGATACAGCATGCATCAGCTCCAGGGCAATAAGGAATATGGCAGTGAAAAGAAGGGGTACCTGCTAAAGAAA
AGTGACGGGATCCGGAAAGTATGGCAGAGGAGGAAGTGTTCAGTCAAGAATGGGATTCTGACCATCTCACATGCCACATCTAACAGGCAACCAGCCAAGT
TGAACCTTCTCACCTGCCAAGTAAAACCTAATGCCGAAGACAAAAAATCTTTTGACCTGATATCACATAATAGAACATATCACTTTCAGGCAGAAGATGA
GCAGGATTATGTAGCATGGATATCAGTATTGACAAATAGCAAAGAAGAGGCCCTAACCATGGCCTTCCGTGGAGAGCAGAGTGCGGGAGAGAACAGCCTG
GAAGACCTGACAAAAGCCATTATTGAGGATGTCCAGCGGCTCCCAGGGAATGACATTTGCTGCGATTGTGGCTCATCAGAACCCACCTGGCTTTCAACCA
ACTTGGGTATTTTGACCTGTATAGAATGTTCTGGCATCCATAGGGAAATGGGGGTTCATATTTCTCGCATTCAGTCTTTGGAACTAGACAAATTAGGAAC
TTCTGAACTCTTGCTGGCCAAGAATGTAGGAAACAATAGTTTTAATGATATTATGGAAGCAAATTTACCCAGCCCCTCACCAAAACCCACCCCTTCAAGT
GATATGACTGTACGAAAAGAATATATCACTGCAAAGTATGTAGATCATAGGTTTTCAAGGAAGACCTGTTCAACTTCATCAGCTAAACTAAATGAATTGC
TTGAGGCCATCAAATCCAGGGATTTACTTGCACTAATTCAAGTCTATGCAGAAGGGGTAGAGCTAATGGAACCACTGCTGGAACCTGGGCAGGAGCTTGG
GGAGACAGCCCTTCACCTTGCCGTCCGAACTGCAGATCAGACATCTCTCCATTTGGTTGACTTCCTTGTACAAAACTGTGGGAACCTGGATAAGCAGACG
GCCCTGGGAAACACAGTTCTACACTACTGTAGTATGTACAGTAAACCTGAGTGTTTGAAGCTTTTGCTCAGGAGCAAGCCCACTGTGGATATAGTTAACC
AGGCTGGAGAAACTGCCCTAGACATAGCAAAGAGACTAAAAGCTACCCAGTGTGAAGATCTGCTTTCCCAGGCTAAATCTGGAAAGTTCAATCCACACGT
CCAYGTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCTRTCAAGAAAGAGCGCTCACCC
AGACCTCAGAGCTTCTGCCACTCCTCCAGCATCTCCCCCCAGGACAAGCTGGCACTGCCAGGATTCAGCACTCCAAGGGACAAACAGCGGCTCTCCTATG
GAGCCTTCACCAACCAGATCTTCGTTTCCACAAGCACAGACTCGCCCACATCACCAACCACGGAGGCTCCCCCTCTGCCTCCTAGGAACGCCGGGAAAGG
TCCAACTGGCCCACCTTCAACACTCCCTCTAAGCACCCAGACCTCTAGTGGCAGCTCCACCCTATCCAAGAAGAGGCCTCCTCCCCCACCACCCGGACAC
AAGAGAACCCTATCCGACCCTCCCAGCCCACTACCTCATGGGCCCCCAAACAAAGGCGCAGTTCCTTGGGGTAACGATGGGGGTCCATCCTCTTCAAGTA
AGACTACAAACAAGTTTGAGGGACTATCCCAGCAGTCGAGCACCAGTTCTGCAAAGACTGCCCTTGGCCCAAGAGTTCTTCCTAAACTACCTCAGAAAGT
GGCACTAAGGAAAACAGATCATCTCTCCCTAGACAAAGCCACCATCCCGCCCGAAATCTTTCAGAAATCATCACAGTTGGCAGAGTTGCCACAAAAGCCA
CCACCTGGAGACCTGCCCCCAAAGCCCACAGAACTGGCCCCCAAGCCCCAAATTGGAGATTTGCCGCCTAAGCCAGGAGAACTGCCCCCCAAACCACAGC
TGGGGGACCTGCCACCCAAACCCCAACTCTCAGACTTACCTCCCAAACCACAGATGAAGGACCTGCCCCCCAAACCACAGCTGGGAGACCTGCTAGCAAA
ATCCCAGACTGGAGATGTCTCACCCAAGGCTCAGCAACCCTCTGAGGTCACACTGAAGTCACACCCATTGGATCTATCCCCAAATGTGCAGTCCAGAGAC
GCCATCCAAAAGCAAGCATCTGAAGACTCCAACGACCTCACGCCTACTCTGCCAGAGACGCCCGTACCACTGCCCAGAAAAATCAATACGGGGAAAAATA
AAGTGAGGCGAGTGAAGACCATTTATGACTGCCAGGCAGACAACGATGACGAGCTCACATTCATCGAGGGAGAAGTGATTATCGTCACAGGGGAAGAGGA
CCAGGAGTGGTGGATTGGCCACATCGAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAA
CCTTAAKATTGTCCACATCCTTCATSMAAGACTGCTKCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGA
AGGGCCACCTCAGGAGSGGGATATAATGTGTGTTGTAAATATCCTGTGGTTTTCTGCCTTCACCAGTATGAGGGTAGCCTCGGACCCGGCGCGCCTTACT
GGTTTGCCAAAGCCATCCTTGGCATCTAGCACTTACATCTCTCTATGCTGTTCTACAAGCAAACAAACAAAAATAGGAGTATAGGAACTGCTGGCTTTGC
AAATAGAAGTGGTCTCCAGCAACCGTTGAAAGGCATAGAATTGACTCTGTTCCTAACAATGCAGTATTCTCAATTGTGTTACTGAAAATGCAACATTAGC
AAAGAGGTGGGTTCTGTTTTCCAGGTGAAACTTTTAGCTCCATGACAGACCAGCCTGTAGTTATCTGTGTACACAGTTTACAGCTACAAAAACCTACTTT
GGTATTTATTACAGAAAAGTGCTCAGTTAAATGTAAGTGTTATTCCTTCAGCAAAATATTCACTGACCCAAAACTCTTTATGGCATTTTACAATGCACAC
AGCCTCATGCAAGTTTAGACAAGTGGATTTATACTGTCTTATGAGTGCCCGCCCCTGATATATTACCTCATTATGCAAAAATAACATATCTTTCATGACT
ATTTTGACAAAAGTTTAAAACACATATGAAGTTCAAATTTCAGGAACCAAGGACTGCCAGAAAATATTAGCCTCTACATTACGCATGCATTTAGAAGCTT
ACCTGAAATCTGCCTTTTATAAAGGAATAGTATGGATAAGTGGAATTGTACATTTTTTAAACTTGATTGCCATTAAAGCAGAAATTATAAGGTTGCAACA
ATATTTGTTTCTAATCACTGGCTTTCTCAAGAGTATGGATTGACATATTGTGTTATGAATGCACATCTCTCAGATGTGTTGAAGCATCCATTGCATCCAT
TTTTTATTATTTTCTTAGTTTTGTTCTTGGACAAATTTAAACTTTTAAAAGATTATTCAAGATGAATTTAAAAGTCAACCCTTCACACAGTTTCCCTACT
GTATGTAGAATCCAGGTGCTGAAACCAAGTGTTTCTTTTCCCATGCTCTTTGTTAAACCCCAATTATAGATAATTTTTCCAGTCTTAAGCTCTGTCCACC
TTCAAGTCAATTCATAACCAAGTTTTTGAACGCTGCTATGAATTGCACTGTGAAAAGCACTCTTCCCTCTCAGTTTTCTTTTCATCCCAGCCATGTTTAT
CAGATCCTTAAGAACATTGTATTTCAGTCTTTTACATCAGTCTGAATTTTGGAAAAGAATGCAATAGTTGTACTCCACAGTCAGTGGAACTGTTCCCTGA
GTCCGAGGCTCATGTGTCATTCTGGCACTACATTTGCTTAAATTGCTATTTTGGCAACAGCACAGAAAACTAATATTTTTAAGCAGAGAATCTTGGCAAT
GAGTGAGAGATGTTAATTTCACAGAAGCACAACTCCCAACCCAACCCTTAGGAAAAGCCCTCTTCCATCGTTACAGTGCTCAGTGAATATTAATTTAGTT
CTGCTTAAGTGGTTGCTATACAAACTTTGAATAGCCACCTAATAAATAAACCTTGCATGACAAACCTGCAAAATATTTTATCAGCTGTTATTGGAAAGTG
ATTTTAAGCAATTGCTTCCTCAGTGTCAGGGCACATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCT
TTAGCAGCCTCRGTACTGAAGCCACACCAGTGTCMGGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCA
TTAAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTTTTCACTGATCTCAAAATAAACTGGTTTTTTTCAAAAAAAAAAAAAAAACAAAAACAAAAAAAAAA
CACAAAAGCTGCATGTCTAAAATTACATGGAGTTAGTGTCTATTCTTTTTCCCCTTTTGCAGCAACTTACACAGCATTTTTAACACCTTTTTTTTCTAGT
TTTTTTGTTCGGTTTTGTTTTCCATCAGGAATTTGAGTTCTCTCTAACCCAGCTTACTGTGGGACATAGGAAAACTCAGTAGAAATACCTTTGGTGATCT
TGTTGAGTTTAAGTCTGATCTTGATCTTAAACTCAGTAAGCCACTATCTGCAATTTTGTACATTATATAGTATTTTGAAGATATGGAACCTTATGAAAAA
AAAATAGCAAATTAGTTCTTTTTCCCCCAGAGGGGAAAGTTATGTTCTGCAAATAGTGTGTGTCTTATTTTACTGTTGAACAGCAATTGCTATTTATTTT
TTTATTGCCTAGAACTTCAACATGTTGTATAGGAATCCTGTAGTGCCACTAGTTAAATGCCGAATTCTCATCTGGATGTTACCATCAAACATCAGTACAC
TTGTCATTTCACATGTGTTTAATGTGACAGTTTTTCAGTACTGTATGTGTTAATTTCTACTTTTTTTAATATTTAAAATTGCTTTTAAATAAACATATTC
TCAGTTGATCCC

Protein Sequence    (SEQ ID NO:999):
MVSNLKRIMAQKWMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLLEEALDQDRTALQKVKKSVKAIYNSGQDHVQNEENYAQVLDKFGSNFL
SRDNPDLGTAFVKFSTLTKELSTLLKNLLQGLSHNVIFTLDSLLKGDLKGVKGDLKKPFDKAWKDYETKFTKIEKEKREHAKQHGMIRTEITGAEIAEEM
EKERRLFQLQMCEYLIKVNEIKTKKGVDLLQNLIKYYHAQCNFFQDGLKTADKLKQYIEKLAADLYNIKQTQDEEKKQLTALRDLIKSSLQLDQKEDSQS
RQGGYSMHQLQGNKEYGSEKKGYLLKKSDGIRKVWQRRKCSVKNGILTISHATSNRQPAKLNLLTCQVKPNAEDKKSFDLISHNRTYHFQAEDEQDYVAW
ISVLTNSKEEALTMAFRGEQSAGENSLEDLTKAIIEDVQRLPGNDICCDCGSSEPTWLSTNLGILTCIECSGIHREMGVHISRIQSLELDKLGTSELLLA
KNVGNNSFNDIMEANLPSPSPKPTPSSDMTVRKEYITAKYVDHRFSRKTCSTSSAKLNELLEAIKSRDLLALIQVYAEGVELMEPLLEPGQELGETALHL
AVRTADQTSLHLVDFLVQNCGNLDKQTALGNTVLHYCSMYSKPECLKLLLRSKPTVDIVNQAGETALDIAKRLKATQCEDLLSQAKSGKFNPHVHVEYEW
NLRQEEIDESDDDLDDKPSPIKKERSPRPQSFCHSSSISPQDKLALPGFSTPRDKQRLSYGAFTNQIFVSTSTDSPTSPTTEAPPLPPRNAGKGPTGPPS
TLPLSTQTSSGSSTLSKKRPPPPPPGHKRTLSDPPSPLPHGPPNKGAVPWGNDGGPSSSSKTTNKFEGLSQQSSTSSAKTALGPRVLPKLPQKVALRKTD
HLSLDKATIPPEIFQKSSQLAELPQKPPPGDLPPKPTELAPKPQIGDLPPKPGELPPKPQLGDLPPKPQLSDLPPKPQMKDLPPKPQLGDLLAKSQTGDV
SPKAQQPSEVTLKSHPLDLSPNVQSRDAIQKQASEDSNDLTPTLPETPVPLPRKINTGKNKVRRVKTIYDCQADNDDELTFIEGEVIIVTGEEDQEWWIG
HIEGQPERKGVFPVSFVHILSD


SNP Information

Context             (SEQ ID NO:5759):
ATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCTTTAGCAGCCTCGGTACTGAAGCCACACCAGTGTC
M
GGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTT
Celera SNP ID:            hCV8340674
SNP Position Transcript:  5435
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5760):
TTGCTTCCTCAGTGTCAGGGCACATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCTTTAGCAGCCTC
R
GTACTGAAGCCACACCAGTGTCCGGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGT
Celera SNP ID:            hCV26077952
SNP Position Transcript:  5412
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5761):
TCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTTTTCACTGATCTCAAAATAAACTGGTTTTTTTC
A
AAAAAAAAAAAAAAACAAAAACAAAAAAAAAACACAAAAGCTGCATGTCTAAAATTACATGGAGTTAGTGTCTATTCTTTTTCCCCTTTTGCAGCAACTT
Celera SNP ID:            hCV26077953
SNP Position Transcript:  5568
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|-,4)   total(A,2|-,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5762):
TGGAAAGTTCAATCCACACGTCCACGTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCT
R
TCAAGAAAGAGCGCTCACCCAGACCTCAGAGCTTCTGCCACTCCTCCAGCATCTCCCCCCAGGACAAGCTGGCACTGCCAGGATTCAGCACTCCAAGGGA
Celera SNP ID:            hCV7686234
SNP Position Transcript:  2380
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;JBIC-allele(A,401|G,1100)   total(G,1100|A,401)no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:999, 721, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5763):
GAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCAT
S
CAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAA
Celera SNP ID:            hCV28978574
SNP Position Transcript:  3626
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5764):
AAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCATG
M
AAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAAT
Celera SNP ID:            hCV28978575
SNP Position Transcript:  3627
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5765):
CTGGAGAAACTGCCCTAGACATAGCAAAGAGACTAAAAGCTACCCAGTGTGAAGATCTGCTTTCCCAGGCTAAATCTGGAAAGTTCAATCCACACGTCCA
Y
GTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCTATCAAGAAAGAGCGCTCACCCAGAC
Celera SNP ID:            hCV15977530
SNP Position Transcript:  2304
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:999, 695, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:5766):
ATTCTGGTCAAGATCATGTACAAAATGAAGAAAACTATGCACAAGTTCTTGATAAGTTTGGGAGTAATTTTTTAAGTCGAGACAACCCCGACCTTGGCAC
Y
GCGTTTGTCAAGTTTTCTACTCTTACAAAGGAACTGTCCACACTGCTGAAAAATCTGCTCCAGGGTTTGAGCCACAATGTGATCTTCACCTTGGATTCTT
Celera SNP ID:            hCV25964629
SNP Position Transcript:  546
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:999, 109, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:5767):
TGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCATGCAAGACTGCT
K
CCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAATGTGTGTTGTA
Celera SNP ID:            hCV7686496
SNP Position Transcript:  3637
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,7)   total(G,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5768):
ATCCTTCATGCAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAG
S
GGGATATAATGTGTGTTGTAAATATCCTGTGGTTTTCTGCCTTCACCAGTATGAGGGTAGCCTCGGACCCGGCGCGCCTTACTGGTTTGCCAAAGCCATC
Celera SNP ID:            hCV7686497
SNP Position Transcript:  3717
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,6)   total(G,6|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Context             (SEQ ID NO:5769):
GTGGTGGATTGGCCACATCGAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAA
K
ATTGTCCACATCCTTCATGCAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCA
Celera SNP ID:            hCV27475189
SNP Position Transcript:  3607
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,34|G,1451)   total(G,1451|T,34) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:999, None   



Gene Number:                 106
Celera Gene:                 hCG2009092 - 207000007139537
Celera Transcript:           hCT2297843 - 207000007139538
Public Transcript Accession: NM_018482
Celera Protein:              hCP1850559 - 207000007139609
Public Protein Accession:    NP_060952
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W2RH(44209643..44585423)
Chromosome:                  Chr8
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:303):
CATTGCATTGAGAGGATATTCAAACTGAAGGGGAGAAGCACGGATTCTGAAGGATGAAAAAGGAACAATGTCGTTTTCTGATGTGACGGCTGAGACATGA
GATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGAGATTCACTATGGAATCGGATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACCAC
CGAGGACTACAACTCGCCCACCACGTCCAGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAGGCTCTAGACCAAGATAGA
ACAGCCCTTCAGAAAGTGAAGAAGTCTGTAAAAGCAATATATAATTCTGGTCAAGATCATGTACAAAATGAAGAAAACTATGCACAAGTTCTTGATAAGT
TTGGGAGTAATTTTTTAAGTCGAGACAACCCCGACCTTGGCACYGCGTTTGTCAAGTTTTCTACTCTTACAAAGGAACTGTCCACACTGCTGAAAAATCT
GCTCCAGGGTTTGAGCCACAATGTGATCTTCACCTTGGATTCTTTGTTAAAAGGAGACCTAAAGGGAGTCAAAGGAGATCTCAAGAAGCCATTTGACAAA
GCCTGGAAAGATTATGAGACAAAGTTTACAAAAATTGAGAAAGAGAAAAGAGAGCACGCAAAACAACATGGGATGATCCGCACAGAGATAACAGGAGCTG
AGATTGCGGAAGAAATGGAGAAGGAAAGGCGCCTCTTTCAGCTCCAAATGTGTGAATATCTCATTAAAGTTAATGAAATCAAGACCAAAAAGGGTGTGGA
TCTGCTGCAGAATCTTATAAAGTATTACCATGCACAGTGCAATTTCTTTCAAGATGGCTTGAAAACAGCTGATAAGTTGAAACAGTACATTGAAAAACTG
GCTGCTGATTTATATAATATAAAACAGACCCAGGATGAAGAAAAGAAACAGCTAACTGCACTCCGAGACTTAATAAAATCCTCTCTTCAACTGGATCAGA
AAGAAGATTCTCAGAGCCGGCAAGGAGGATACAGCATGCATCAGCTCCAGGGCAATAAGGAATATGGCAGTGAAAAGAAGGGGTACCTGCTAAAGAAAAG
TGACGGGATCCGGAAAGTATGGCAGAGGAGGAAGTGTTCAGTCAAGAATGGGATTCTGACCATCTCACATGCCACATCTAACAGGCAACCAGCCAAGTTG
AACCTTCTCACCTGCCAAGTAAAACCTAATGCCGAAGACAAAAAATCTTTTGACCTGATATCACATAATAGAACATATCACTTTCAGGCAGAAGATGAGC
AGGATTATGTAGCATGGATATCAGTATTGACAAATAGCAAAGAAGAGGCCCTAACCATGGCCTTCCGTGGAGAGCAGAGTGCGGGAGAGAACAGCCTGGA
AGACCTGACAAAAGCCATTATTGAGGATGTCCAGCGGCTCCCAGGGAATGACATTTGCTGCGATTGTGGCTCATCAGAACCCACCTGGCTTTCAACCAAC
TTGGGTATTTTGACCTGTATAGAATGTTCTGGCATCCATAGGGAAATGGGGGTTCATATTTCTCGCATTCAGTCTTTGGAACTAGACAAATTAGGAACTT
CTGAACTCTTGCTGGCCAAGAATGTAGGAAACAATAGTTTTAATGATATTATGGAAGCAAATTTACCCAGCCCCTCACCAAAACCCACCCCTTCAAGTGA
TATGACTGTACGAAAAGAATATATCACTGCAAAGTATGTAGATCATAGGTTTTCAAGGAAGACCTGTTCAACTTCATCAGCTAAACTAAATGAATTGCTT
GAGGCCATCAAATCCAGGGATTTACTTGCACTAATTCAAGTCTATGCAGAAGGGGTAGAGCTAATGGAACCACTGCTGGAACCTGGGCAGGAGCTTGGGG
AGACAGCCCTTCACCTTGCCGTCCGAACTGCAGATCAGACATCTCTCCATTTGGTTGACTTCCTTGTACAAAACTGTGGGAACCTGGATAAGCAGACGGC
CCTGGGAAACACAGTTCTACACTACTGTAGTATGTACAGTAAACCTGAGTGTTTGAAGCTTTTGCTCAGGAGCAAGCCCACTGTGGATATAGTTAACCAG
GCTGGAGAAACTGCCCTAGACATAGCAAAGAGACTAAAAGCTACCCAGTGTGAAGATCTGCTTTCCCAGGCTAAATCTGGAAAGTTCAATCCACACGTCC
AYGTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCTRTCAAGAAAGAGCGCTCACCCAG
ACCTCAGAGCTTCTGCCACTCCTCCAGCATCTCCCCCCAGGACAAGCTGGCACTGCCAGGATTCAGCACTCCAAGGGACAAACAGCGGCTCTCCTATGGA
GCCTTCACCAACCAGATCTTCGTTTCCACAAGCACAGACTCGCCCACATCACCAACCACGGAGGCTCCCCCTCTGCCTCCTAGGAACGCCGGGAAAGGTC
CAACTGGCCCACCTTCAACACTCCCTCTAAGCACCCAGACCTCTAGTGGCAGCTCCACCCTATCCAAGAAGAGGCCTCCTCCCCCACCACCCGGACACAA
GAGAACCCTATCCGACCCTCCCAGCCCACTACCTCATGGGCCCCCAAACAAAGGCGCAGTTCCTTGGGGTAACGATGGGGGTCCATCCTCTTCAAGTAAG
ACTACAAACAAGTTTGAGGGACTATCCCAGCAGTCGAGCACCAGTTCTGCAAAGACTGCCCTTGGCCCAAGAGTTCTTCCTAAACTACCTCAGAAAGTGG
CACTAAGGAAAACAGATCATCTCTCCCTAGACAAAGCCACCATCCCGCCCGAAATCTTTCAGAAATCATCACAGTTGGCAGAGTTGCCACAAAAGCCACC
ACCTGGAGACCTGCCCCCAAAGCCCACAGAACTGGCCCCCAAGCCCCAAATTGGAGATTTGCCGCCTAAGCCAGGAGAACTGCCCCCCAAACCACAGCTG
GGGGACCTGCCACCCAAACCCCAACTCTCAGACTTACCTCCCAAACCACAGATGAAGGACCTGCCCCCCAAACCACAGCTGGGAGACCTGCTAGCAAAAT
CCCAGACTGGAGATGTCTCACCCAAGGCTCAGCAACCCTCTGAGGTCACACTGAAGTCACACCCATTGGATCTATCCCCAAATGTGCAGTCCAGAGACGC
CATCCAAAAGCAAGCATCTGAAGACTCCAACGACCTCACGCCTACTCTGCCAGAGACGCCCGTACCACTGCCCAGAAAAATCAATACGGGGAAAAATAAA
GTGAGGCGAGTGAAGACCATTTATGACTGCCAGGCAGACAACGATGACGAGCTCACATTCATCGAGGGAGAAGTGATTATCGTCACAGGGGAAGAGGACC
AGGAGTGGTGGATTGGCCACATCGAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACC
TTAAKATTGTCCACATCCTTCATSMAAGACTGCTKCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAG
GGCCACCTCAGGAGSGGGATATAATGTGTGTTGTAAATATCCTGTGGTTTTCTGCCTTCACCAGTATGAGGGTAGCCTCGGACCCGGCGCGCCTTACTGG
TTTGCCAAAGCCATCCTTGGCATCTAGCACTTACATCTCTCTATGCTGTTCTACAAGCAAACAAACAAAAATAGGAGTATAGGAACTGCTGGCTTTGCAA
ATAGAAGTGGTCTCCAGCAACCGTTGAAAGGCATAGAATTGACTCTGTTCCTAACAATGCAGTATTCTCAATTGTGTTACTGAAAATGCAACATTAGCAA
AGAGGTGGGTTCTGTTTTCCAGGTGAAACTTTTAGCTCCATGACAGACCAGCCTGTAGTTATCTGTGTACACAGTTTACAGCTACAAAAACCTACTTTGG
TATTTATTACAGAAAAGTGCTCAGTTAAATGTAAGTGTTATTCCTTCAGCAAAATATTCACTGACCCAAAACTCTTTATGGCATTTTACAATGCACACAG
CCTCATGCAAGTTTAGACAAGTGGATTTATACTGTCTTATGAGTGCCCGCCCCTGATATATTACCTCATTATGCAAAAATAACATATCTTTCATGACTAT
TTTGACAAAAGTTTAAAACACATATGAAGTTCAAATTTCAGGAACCAAGGACTGCCAGAAAATATTAGCCTCTACATTACGCATGCATTTAGAAGCTTAC
CTGAAATCTGCCTTTTATAAAGGAATAGTATGGATAAGTGGAATTGTACATTTTTTAAACTTGATTGCCATTAAAGCAGAAATTATAAGGTTGCAACAAT
ATTTGTTTCTAATCACTGGCTTTCTCAAGAGTATGGATTGACATATTGTGTTATGAATGCACATCTCTCAGATGTGTTGAAGCATCCATTGCATCCATTT
TTTATTATTTTCTTAGTTTTGTTCTTGGACAAATTTAAACTTTTAAAAGATTATTCAAGATGAATTTAAAAGTCAACCCTTCACACAGTTTCCCTACTGT
ATGTAGAATCCAGGTGCTGAAACCAAGTGTTTCTTTTCCCATGCTCTTTGTTAAACCCCAATTATAGATAATTTTTCCAGTCTTAAGCTCTGTCCACCTT
CAAGTCAATTCATAACCAAGTTTTTGAACGCTGCTATGAATTGCACTGTGAAAAGCACTCTTCCCTCTCAGTTTTCTTTTCATCCCAGCCATGTTTATCA
GATCCTTAAGAACATTGTATTTCAGTCTTTTACATCAGTCTGAATTTTGGAAAAGAATGCAATAGTTGTACTCCACAGTCAGTGGAACTGTTCCCTGAGT
CCGAGGCTCATGTGTCATTCTGGCACTACATTTGCTTAAATTGCTATTTTGGCAACAGCACAGAAAACTAATATTTTTAAGCAGAGAATCTTGGCAATGA
GTGAGAGATGTTAATTTCACAGAAGCACAACTCCCAACCCAACCCTTAGGAAAAGCCCTCTTCCATCGTTACAGTGCTCAGTGAATATTAATTTAGTTCT
GCTTAAGTGGTTGCTATACAAACTTTGAATAGCCACCTAATAAATAAACCTTGCATGACAAACCTGCAAAATATTTTATCAGCTGTTATTGGAAAGTGAT
TTTAAGCAATTGCTTCCTCAGTGTCAGGGCACATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCTTT
AGCAGCCTCRGTACTGAAGCCACACCAGTGTCMGGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCATT
AAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTTTTCACTGATCTCAAAATAAACTGGTTTTTTTCAAAAAAAAAAAAAAAACAAAAACAAAAAAAAAACA
CAAAAGCTGCATGTCTAAAATTACATGGAGTTAGTGTCTATTCTTTTTCCCCTTTTGCAGCAACTTACACAGCATTTTTAACACCTTTTTTTTCTAGTTT
TTTTGTTCGGTTTTGTTTTCCATCAGGAATTTGAGTTCTCTCTAACCCAGCTTACTGTGGGACATAGGAAAACTCAGTAGAAATACCTTTGGTGATCTTG
TTGAGTTTAAGTCTGATCTTGATCTTAAACTCAGTAAGCCACTATCTGCAATTTTGTACATTATATAGTATTTTGAAGATATGGAACCTTATGAAAAAAA
AATAGCAAATTAGTTCTTTTTCCCCCAGAGGGGAAAGTTATGTTCTGCAAATAGTGTGTGTCTTATTTTACTGTTGAACAGCAATTGCTATTTATTTTTT
TATTGCCTAGAACTTCAACATGTTGTATAGGAATCCTGTAGTGCCACTAGTTAAATGCCGAATTCTCATCTGGATGTTACCATCAAACATCAGTACACTT
GTCATTTCACATGTGTTTAATGTGACAGTTTTTCAGTACTGTATGTGTTAATTTCTACTTTTTTTAATATTTAAAATTGCTTTTAAATAAACATATTCTC
AGTTGATCCC

Protein Sequence    (SEQ ID NO:1000):
MRSSASRLSSFSSRDSLWNRMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLLEEALDQDRTALQKVKKSVKAIYNSGQDHVQNEENYAQVLD
KFGSNFLSRDNPDLGTAFVKFSTLTKELSTLLKNLLQGLSHNVIFTLDSLLKGDLKGVKGDLKKPFDKAWKDYETKFTKIEKEKREHAKQHGMIRTEITG
AEIAEEMEKERRLFQLQMCEYLIKVNEIKTKKGVDLLQNLIKYYHAQCNFFQDGLKTADKLKQYIEKLAADLYNIKQTQDEEKKQLTALRDLIKSSLQLD
QKEDSQSRQGGYSMHQLQGNKEYGSEKKGYLLKKSDGIRKVWQRRKCSVKNGILTISHATSNRQPAKLNLLTCQVKPNAEDKKSFDLISHNRTYHFQAED
EQDYVAWISVLTNSKEEALTMAFRGEQSAGENSLEDLTKAIIEDVQRLPGNDICCDCGSSEPTWLSTNLGILTCIECSGIHREMGVHISRIQSLELDKLG
TSELLLAKNVGNNSFNDIMEANLPSPSPKPTPSSDMTVRKEYITAKYVDHRFSRKTCSTSSAKLNELLEAIKSRDLLALIQVYAEGVELMEPLLEPGQEL
GETALHLAVRTADQTSLHLVDFLVQNCGNLDKQTALGNTVLHYCSMYSKPECLKLLLRSKPTVDIVNQAGETALDIAKRLKATQCEDLLSQAKSGKFNPH
VHVEYEWNLRQEEIDESDDDLDDKPSPIKKERSPRPQSFCHSSSISPQDKLALPGFSTPRDKQRLSYGAFTNQIFVSTSTDSPTSPTTEAPPLPPRNAGK
GPTGPPSTLPLSTQTSSGSSTLSKKRPPPPPPGHKRTLSDPPSPLPHGPPNKGAVPWGNDGGPSSSSKTTNKFEGLSQQSSTSSAKTALGPRVLPKLPQK
VALRKTDHLSLDKATIPPEIFQKSSQLAELPQKPPPGDLPPKPTELAPKPQIGDLPPKPGELPPKPQLGDLPPKPQLSDLPPKPQMKDLPPKPQLGDLLA
KSQTGDVSPKAQQPSEVTLKSHPLDLSPNVQSRDAIQKQASEDSNDLTPTLPETPVPLPRKINTGKNKVRRVKTIYDCQADNDDELTFIEGEVIIVTGEE
DQEWWIGHIEGQPERKGVFPVSFVHILSD


SNP Information

Context             (SEQ ID NO:5770):
ATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCTTTAGCAGCCTCGGTACTGAAGCCACACCAGTGTC
M
GGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTT
Celera SNP ID:            hCV8340674
SNP Position Transcript:  5333
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5771):
TTGCTTCCTCAGTGTCAGGGCACATGTGAATTTCCACACCAAACAGAGCATGAGGAACCAGTTGACATGCTGGGTTGTGACTGGCAGCTTTAGCAGCCTC
R
GTACTGAAGCCACACCAGTGTCCGGATGGAAGTCTGCATCTGAGGTTGCTCAGTGTCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGT
Celera SNP ID:            hCV26077952
SNP Position Transcript:  5310
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5772):
TCCCGGTCATTCATTTACACATTTTAACTTGCATTAAAGAGCTGTTCTTTTCTGTGGCCTAGACTCTTTTCACTGATCTCAAAATAAACTGGTTTTTTTC
A
AAAAAAAAAAAAAAACAAAAACAAAAAAAAAACACAAAAGCTGCATGTCTAAAATTACATGGAGTTAGTGTCTATTCTTTTTCCCCTTTTGCAGCAACTT
Celera SNP ID:            hCV26077953
SNP Position Transcript:  5466
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|-,4)   total(A,2|-,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5773):
TGGAAAGTTCAATCCACACGTCCACGTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCT
R
TCAAGAAAGAGCGCTCACCCAGACCTCAGAGCTTCTGCCACTCCTCCAGCATCTCCCCCCAGGACAAGCTGGCACTGCCAGGATTCAGCACTCCAAGGGA
Celera SNP ID:            hCV7686234
SNP Position Transcript:  2278
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;JBIC-allele(A,401|G,1100)   total(G,1100|A,401)no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1000, 728, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:5774):
GAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCAT
S
CAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAA
Celera SNP ID:            hCV28978574
SNP Position Transcript:  3524
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5775):
AAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCATG
M
AAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAAT
Celera SNP ID:            hCV28978575
SNP Position Transcript:  3525
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5776):
CTGGAGAAACTGCCCTAGACATAGCAAAGAGACTAAAAGCTACCCAGTGTGAAGATCTGCTTTCCCAGGCTAAATCTGGAAAGTTCAATCCACACGTCCA
Y
GTAGAATATGAGTGGAATCTTCGACAGGAGGAGATAGATGAGAGCGATGATGATCTGGATGACAAACCAAGCCCTATCAAGAAAGAGCGCTCACCCAGAC
Celera SNP ID:            hCV15977530
SNP Position Transcript:  2202
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1000, 702, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:5777):
ATTCTGGTCAAGATCATGTACAAAATGAAGAAAACTATGCACAAGTTCTTGATAAGTTTGGGAGTAATTTTTTAAGTCGAGACAACCCCGACCTTGGCAC
Y
GCGTTTGTCAAGTTTTCTACTCTTACAAAGGAACTGTCCACACTGCTGAAAAATCTGCTCCAGGGTTTGAGCCACAATGTGATCTTCACCTTGGATTCTT
Celera SNP ID:            hCV25964629
SNP Position Transcript:  444
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1000, 116, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:5778):
TGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAAGATTGTCCACATCCTTCATGCAAGACTGCT
K
CCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAGGGGGATATAATGTGTGTTGTA
Celera SNP ID:            hCV7686496
SNP Position Transcript:  3535
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,7)   total(G,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5779):
ATCCTTCATGCAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCACCTCAGGAG
S
GGGATATAATGTGTGTTGTAAATATCCTGTGGTTTTCTGCCTTCACCAGTATGAGGGTAGCCTCGGACCCGGCGCGCCTTACTGGTTTGCCAAAGCCATC
Celera SNP ID:            hCV7686497
SNP Position Transcript:  3615
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,6)   total(G,6|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Context             (SEQ ID NO:5780):
GTGGTGGATTGGCCACATCGAAGGACAGCCTGAAAGGAAGGGGGTCTTTCCAGTGTCCTTTGTTCATATCCTGTCTGACTAGCAAAACGCAGAACCTTAA
K
ATTGTCCACATCCTTCATGCAAGACTGCTGCCTTCATGTAACCCTGGGCACAGTGTGTATATAGCTGCTGTTACAGAGTAAGAAACTCATGGAAGGGCCA
Celera SNP ID:            hCV27475189
SNP Position Transcript:  3505
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,34|G,1451)   total(G,1451|T,34) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1000, None   



Gene Number:                 107
Celera Gene:                 hCG2011522 - 79000075464494
Celera Transcript:           hCT2301728 - 79000075464495
Public Transcript Accession: NM_003383
Celera Protein:              hCP1889600 - 197000069432864
Public Protein Accession:    NP_003374
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VTY6(36170885..36171158)
Chromosome:                  Chr9
OMIM number:                 192977
OMIM Information:            VERY LOW DENSITY LIPOPROTEIN RECEPTOR;VLDLR


Transcript Sequence (SEQ ID NO:304):
CTCCTAGGAGGCGGGTGGGCAAACGGAGACCTACGCCTCGGGGTCTCCCGGTGCCCCGGCTGGGTCCCGCCCGCCGGCGGAGGGGCGCGTCCTYACTCAC
CGGTTCCGGTGGCGCCGCTCTCCCGGGGCGCCCAGCACAGCGCGAGCAGCAGCCAGAGCGCCCAGAGCGCGGACGTGCCCATGGTGCCCGCCTGGATGGT
GCCGCCGCCGCCGCCGCCGCCGCCGTYCGCTCCGCACGACAAGTTACCAGTCCTTCCGAAAGGAGGAAGAAGG

Protein Sequence    (SEQ ID NO:1001):
LLGGGWANGDLRLGVSRCPGWVPPAGGGARPHSPVPVAPLSRGAQHSASSSQSAQSADVPMVPAWMVPPPPPPPPFAPHDKLPVLPKGGRR


SNP Information

Context             (SEQ ID NO:5781):
CTCCTAGGAGGCGGGTGGGCAAACGGAGACCTACGCCTCGGGGTCTCCCGGTGCCCCGGCTGGGTCCCGCCCGCCGGCGGAGGGGCGCGTCCT
Y
ACTCACCGGTTCCGGTGGCGCCGCTCTCCCGGGGCGCCCAGCACAGCGCGAGCAGCAGCCAGAGCGCCCAGAGCGCGGACGTGCCCATGGTGCCCGCCTG
Celera SNP ID:            hCV1595795
SNP Position Transcript:  94
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1001, 32, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:5782):
GGCGCCCAGCACAGCGCGAGCAGCAGCCAGAGCGCCCAGAGCGCGGACGTGCCCATGGTGCCCGCCTGGATGGTGCCGCCGCCGCCGCCGCCGCCGCCGT
Y
CGCTCCGCACGACAAGTTACCAGTCCTTCCGAAAGGAGGAAGAAGG
Celera SNP ID:            hCV27089654
SNP Position Transcript:  227
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1001, 76, (S,TCC)   (F,TTC)      



Gene Number:                 108
Celera Gene:                 hCG2012694 - 30000034453286
Celera Transcript:           hCT2303396 - 30000034453316
Public Transcript Accession: 
Celera Protein:              hCP1808604 - 30000034453266
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VWPT(39372142..39377017)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:305):
TCCTCCCACGTCCCACCTTGCTGCTGAGAAATGAGCCCGCCCTGGGGATAACTGCCCAATGTCCTCCCTTCCAGTTCATGAGCGGCCCAGTTCTGTACCA
GGAGAAGCTGCTGAAGCCGGCAGRTTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAAGACGAGGCCCTGCGGGTGCTGTCCCTGCGCGCCCTCGGCAAC
ATGGCCCTGGGCGCCCCCAAGAAGGTGAAGCAGTACCGGAAGGTCTTGCTGGAGAAGTGCCTGGGCCCCCTGAGGGAGCCCGTGAGCAACAGCGTGACTG
CCGAGGGCATGGAGGCCCTGACCAAGATCCTGGCTGAGCTCCGGGAAGGGGATGTGGGGTCCTCTTTCGACGCCATGTCTGAGCAGTGCAGGATCTTCTT
CGACAACGAGAGCGAGCTGCTGCGTCTGAAAGCCTTCATCCTCTTTGGAAAGCTGGCAAGGGTGGTCGGGATGTCCAAGAAGCATTTCTTCAAAGGGGAG
GTGAAGAAGGCCTGGATCCCCCTCATGCTGCACTCCCAGGACCCCTGCTCCAATGCAGCCCAAGCCTGTATGGCTACCATGTTTCAGTGTGTGCACTTCT
GGGGCTGGAAGTCCCTGGAGCATCCCTCAGGGCCAAGTGATACCGCTACTGATGACAAGATGACCGTTTTCCAGACAACCATGTGCTCCATCCTGACTCG
GAAAAAGCCGGCTGTTCTCTACCGCTTCTTGCTAGAAACAATGGCCTATGTTAAAAATAACTTGTCAAGAATCAGAATCGCTGCTTGCAACTTGGCAGGA
ATTATTATGAAGCAGATGTCTACACATTATCTGAAAAAGCTGGACTTCCCAGCATTACGGAATTCCCTCCAGGAACTACAGCTGGACCCGGATCCCGGGG
TCAGGAGGGCAGCCCTGGAGACGCTCACAGTCTTGGATAGCTGTAGTCAGCATGGGTTTCTGGCTTCACCCCAAGGAATGTCCTAGGTGGTCCAAACATA
AGACGTAAACTGTCTTCTTAGTGCCAAATGCAAGCCCTTTTTAATTTAGTTTGTAAGAAGTTTAGTTTGTAGGAAAAACACTATTGTAAAATAACTAGTA
TCCTTTTGTTTCCTTCCGTTGAAATAAACCTCCACTGTCGTTGGAGTAGACTT

Protein Sequence    (SEQ ID NO:1002):
MSGPVLYQEKLLKPAALLLEKGADQEEDEALRVLSLRALGNMALGAPKKVKQYRKVLLEKCLGPLREPVSNSVTAEGMEALTKILAELREGDVGSSFDAM
SEQCRIFFDNESELLRLKAFILFGKLARVVGMSKKHFFKGEVKKAWIPLMLHSQDPCSNAAQACMATMFQCVHFWGWKSLEHPSGPSDTATDDKMTVFQT
TMCSILTRKKPAVLYRFLLETMAYVKNNLSRIRIAACNLAGIIMKQMSTHYLKKLDFPALRNSLQELQLDPDPGVRRAALETLTVLDSCSQHGFLASPQG
MS


SNP Information

Context             (SEQ ID NO:5783):
CTGAGAAATGAGCCCGCCCTGGGGATAACTGCCCAATGTCCTCCCTTCCAGTTCATGAGCGGCCCAGTTCTGTACCAGGAGAAGCTGCTGAAGCCGGCAG
R
TTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAAGACGAGGCCCTGCGGGTGCTGTCCCTGCGCGCCCTCGGCAACATGGCCCTGGGCGCCCCCAAGAAG
Celera SNP ID:            hCV29368018
SNP Position Transcript:  124
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1002, None   



Gene Number:                 108
Celera Gene:                 hCG2012694 - 30000034453286
Celera Transcript:           hCT2303395 - 30000034453287
Public Transcript Accession: 
Celera Protein:              hCP1808603 - 30000034453269
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VWPT(39322130..39377017)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:306):
GAGACCCATTCCTATAAGAAATATGACTGAAGAGCCCAGCTGTCTCACTTTGATAACCAATTCTTCCATTTGCATTTCCATTGATGTGTATTGGGCCAAG
AGCAGAGCTTTTTCTTGTGGTTAATATCTGTTTAATCCAGAAGAAGACCCTAAGGAAAGAGCTTGAGGAAGAGATGACTGAAGCCATTACAGAAGCAGCA
GTAMACTCAAGTGAGGAGGTGTCAGAGGAAAGAGACGACCTGGGGCCTCTTGAATTACATGACAGTGGTACCTTTCAACAAGTCGTGAACCTTCTGGACA
TCATTGACAGCGAGTCAGCAAAGACGGACACAACAGGGGCAGGCCTTGACATGCGGAAGACCCTGGCCTCGGTGATAATCATGGAGAAGGCCACCACTGA
GCCTTCTGTAGTGATAAACACTCTCATCCGCTGCCTGCAGGTGCCAGAGATTTCCACCCAGCGCAAGGTCAACATTTACAACATCCTCCAGGACATCATC
CAGCAGGAGGGGGAGCTGGAGGAGCAGTGCGTGCAGAGGCTGGTGGCCATTGCCTCCAAGGAGATGAGGGAGATCCCAGAGATGGAGGGCTATATGAAGG
CAGAGGTGGCCAGCGACACACTGGTGGCTCTGTCCCGAAACCACTTCAGCTTGGTCATGTACGAGCTGCAGCACCACCTCAAGCCCCTCAACCTCACTGA
TGAATTTGTCATCATCACACTGGCCAAGCTGGCCAACGGCAATGTGTTTGAGTTCATGCCATACATGGGCATCACCCTGGCTACCATATTCACCATGCTG
AGACTTGCCAATGAAGCCAAGATACGCCAGGCGATCTGCAGTGCCATGGAGACCTTCTGTGAGACGGTGCAGTTTTATCTGAAGCACCTGGAGGAGAGCG
TGTACCCCGTGATGACTGAGGAGGAGTTTGCCCTGAAGGTGTTCCCCATGTATCGCTACTTCGTGACAGTGTGGCTGAGGCAYCACAACCCCGAGGTGAA
GCTGGGGGTGATCAAGTCCCTGAAGCCCATGCTCGGCCTCCTTCTGCCCAACGATGACCTGCGGGAGCAGGTCTACGACTACATCCCCCTGCTGCTGGCG
GAGTACCAGGGCAAAGGTCACCTGCCACCATTTGCCAATCCACTGCAGGTCTTGAGGCAGATCCTGRGACTGTCAGTCACCACCAACACCCCTGTCCCCC
AAATGCAGCTACACACCATTTTCACAGAACTGCACGTCCAGGTGTGCAACAAGGCCCCGGCCCAGCATCAGTACAGCAGCCAGAATCTGATGGAGATGGT
GCACTGCTTCGTAGCCCYTGCTCGCTCCTACCCCAAGGAGCTGATGAAGTTCTTCTTCAGCCAGATGGAGACAAACAAGGAGGCCGTCCGCGTGGGGACT
CTGAATCTGATTAGGGCTATAGTGAGCGCAGATGAGCCCAGGATGAGTATCAGGGCCATCTACCTGGCTATCCGGGTAGTCAAGAACACCATCTCTGATA
CCCGGTCCAAGGRGAGGATGGCTATTCTCCACATCATTGGGCAGTTGGCTCTCTGTGGCTACCAGGAGAGAATCAAAGGCTGGGGCCTGAAGTACCTGTC
TGTGCAGCTGACCTTATCCACCTACAAACTGACAAATCGCCGGGAGAAGTTTTATCAGAGGGACTTGGAGGAGAGGATGGTCCACAAAGTCACCATGGAC
ACTGTGAAGATCATTACCTCTTCTGTCAGTGGGATGACCACCGAGTTTTGGGTGAGGCTGCTGTGCTACATCATGGAGACAGACTACGTGGAAGCTTTGA
CTCCTATCTGTATCAGCCTCACAAACCTGGCAGAACACCAGCTCCATGGCCAGGATGTGGATGTCAGCGTGGCTGGCAAGAGCAGGCAAGTGGACCTGCC
TGCACCTCAGAAGCTGCTGGCCCGTCTCCTGGTGCTGATGTCATCACCTTACAAGGGGGAGGGTCGTGGGATAGCCATGCTCAACCTCTTGAGGACCCTG
AGCCAGAGCATCGCACCCTCCATGGCCGACATGTGGGAGCTGGAGATTGCGCTACTGGTCCGGTACCTGGAAGAACATACTGAGTTCACTTGGGATCAGA
AAGCCTGGGAAGACAAGCTGATTCAGTTTCTGCGAAACTCCCTCAAGAAGACCCGGGGGTCTAGCTGGAGCCTGCGCTTGAYTAAAGAGCTGAACAACCA
GATTGCGAGCTTTGACAGCCCCTCTCTGGAGAAGGGCTTTCTGTACCGGGCCTTGGGCTTCACCTTGGCCACAGGCCTGGAGGCCAGCAAGGTGGAGGTC
CTGCTGTTGGAGCTGCTGTACAAGACGGACTACAGCAATGACTTTGACAGCGAGGGTGTGATTATGTGCTTTGGCCTGTGTGCCCGGGGCCAGGTAAAAA
CGGTGCTGAATGTGCTTCATGACTTCGAGGAGAGGATCCAGGAGTCAGAGCAGTCCTGGCAGATCAGTGCTTGGCGGAAGGACCATCCCTGGAGGCGGGA
GACAGTGAAAAGTGCCCTCATGGTGATGTATAGCTGCGTGGCCTCCTACTGCCACCCCCAGTTGCTCCTCAACCTCGTGGACAGCCCCATCACCGCTAAG
ATCATTCACCATTATGTCAGCAGCTGCCAGGACATCTGTCTCAAAATGGCCTTCATGAAGAGTGTTGTGCAGGTTACCAAGGCCATCAACAACATCAAGG
ACCTGGAGGACTTTCACTTTGCCCAGAAGACGACTCTTACCAGCATTATAGTGGCGGTCATCAAGGCAGAACCGACTGACAACCTGGTTTCTCCAGTGCG
AGCCTTGGCGATGGAGGCCCTCTCGCACCTGAGCAAGCTGAAGCCTTTCTACTCCACAGAGGAAAACAGTGAGCTGATGGATATCAGCATACATTCTGTA
ATTTCTCTCCAACTCCCAGGAGAGGACAATGAGTCCATTAAGACCCTGTATGCAAATGCCCTGAGCTCCCTGGAGCAGCTGATGGAGAGCCTCCTGCAGA
GGCAGCTGGACCCCAAGGGGCTGCAGGAGATGGTGCAGCTCCTGGAAAAGTGGATCTTGTCGGAGAAAGAATGGGAGCGGGAAAAGGCCGTGAGCCTCCA
TCTCTATCTCATYCGGATTTATGTCCACAGCACTGCTGTCTGTATCCACCTAAAGCTGGGGCAGTTTGGCACAATGGTCGGACTCATTGCCCCGTGCACC
TGTGATGCCCATCAAAGAACCCGCATGGCCTCAATGAATGTCCTGTCCAGCCTGCTAGATCTTCACGCAAGCCAGACCTGCTCCTTGTGGGGCCCTTCCA
ASCAGAAGGAGCTTGAGAAATGTAAGGGGGACCTCCAGAGCACAGATGTGGAGAAGATCTTCTGTGCATCCTCCAGAATCGCCAAGGTGGTCTGCATGGA
GTTTAGCTYCGATGAGGTGGTCTCGCTCATCCAGAAGCTCTGCGAGAACACTGGGGCCATGAACCTGCAGCATGACAAGGCCTCTGTCACCTGGATAGCC
YTCTTCCTCCAGATGCGGGCCAAGGAGCTGGAGGACAAGGTGGCCGAGATCCTGAGTGCCATCCTGGTGCACCTGCCGGTGGTGGACCACCCAGAGGTGC
GGCGCCTTCTCATTGACGGCATCCTGCTGCTGGCGCACCACCACCAGGAGACCATCCTCACATCGCTCCTGAGGCAGCCACTGCCCATGGAGAGCCACCT
GGCAGAGGTGTGGCTGGCAGTGTCGGAGAARGTGCCCTTCGCCCGGACCATGCTCCACAGCCTGATGGGCCGGCTGCAGTCACGGCTCAGCCCCAGAATC
AGTGCCACCTCCAAGGCTGACATCTGGCGCCTGGCTGCGGTGGACCCCCTGATGACCCTGTGCACCATCCACCTTCTCATTCAGAAGCTGGATGAGAATG
ACAAGCTCCCGGACTTCCTCCCTGACCTCATCTACACCCTCCTGCTGCAGCTTGGAAGCAGCCACCGACCAGAGGCCGCCCCGCCGGTCTTGAAGATGTG
GAAGCTGGTCCACACCACTCCTCTGCCGGAGGAGATGAACCTGCAAAGGTGCTCTCGAGGGCGGGTCACTATCAAGTCCATGCAGCTCTTGTTCAAGAGA
GTCAAGAGCCAGCACCTGGCACATACCCTGGACGAGCAGGCAGTGTGGGACCTCCTGCAGGACGGCGGGACATTCCTGGAGGGTGTGAGCCTGCTGGCCA
GGCTGTGCATGCAGCACGTGGAGGGCCACAGGCAGAGGCTGGCCGAGCTGGTGCTCAGGGGCATGGACTCAGAAGTCCTGAGCTGCCGCATCAGCAGCAC
AGCGGTCTGRGTGGARTTCATGAGCGGCCCAGTTCTGTACCAGGAGAAGCTGCTGAAGCCGGCAGCTTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAA
GACGAGGCCCTGCGGGTGCTGTCMCTGCGCGCCCTCGGCAACATGGCCCTGGGCGCCCCCAAGAAGGTGAAGCAGTACCGGAAGGTCTTGCTGGAGAAGT
GCCTGGGCCCCCTGAGGGAGCCCGTGAGCAACAGCGTGACTGCCGAGGGCATGGAGGCCCTGACCAAGATCCTGGCTGAGCTCCGGGAAGGGGATGTGGG
GTCCTCTTTCGACGCCATGTCTGAGCAGTGCAGGATCTTCTTCGACAACGAGAGCGAGCTGCTGCGTCTGAAAGCCTTCATCCTCTTTGGAAAGCTGGCA
AGGGTGGTCGGGATGTCCAAGAAGCATTTCTTCAAAGGGGAGGTGAAGAAGGCCTGGATCCCCCTCATGCTGCACTCCCAGGACCCCTGCTCCAATGCAG
CCCAAGCCTGTATGGCTACCATGTTTCAGTGTGTGCACTTCTGGGGCTGGAAGTCCCTGGAGCATCRCTCAGGGCCAAGTGATACCGCTACTGATGACAA
GATGACCGTTTTCCAGACAACCATGTGCTCCATCCTGACTCGGAAAAAGCCGGCTGTTCTCTACCGCTTCTTGCTAGARACAATGGCCTATGTTAAAAAR
AACTTGTCAAGAATCAGAATCGCTGCTTGCAACTTGGCAGGAATTATTATGAAGCAGATGTCTACACATTATCTGAAAAAGCTGGACTTCCCAGCATTAC
GGAATTCCCTCCAGGAACTACAGCTGGACCCGGATCCCGGGGTCAGGAGGGCAGCCCTGGAGACGCTCACAGTCTTGGATAGCTGTAGTCAGCATGGGTT
TCTGGCTTCACCCCAAGGAATGYCCTAGGTGGTCCAAACATAAGACGTAAACTGTCTTCTTAGTGCCAAATGCAAGCCCTTTTTAATTTAGTTTGTAAGA
AGTTTAGTTTGTAGGAAAAACACTATTGTAAAATAACTAGTATCCTTTTGTTTCCTTCCGTTGAAATAAACCTCCACTGTCGTTGWAGTAGACTT

Protein Sequence    (SEQ ID NO:1003):
MCIGPRAELFLVVNICLIQKKTLRKELEEEMTEAITEAAVDSSEEVSEERDDLGPLELHDSGTFQQVVNLLDIIDSESAKTDTTGAGLDMRKTLASVIIM
EKATTEPSVVINTLIRCLQVPEISTQRKVNIYNILQDIIQQEGELEEQCVQRLVAIASKEMREIPEMEGYMKAEVASDTLVALSRNHFSLVMYELQHHLK
PLNLTDEFVIITLAKLANGNVFEFMPYMGITLATIFTMLRLANEAKIRQAICSAMETFCETVQFYLKHLEESVYPVMTEEEFALKVFPMYRYFVTVWLRH
HNPEVKLGVIKSLKPMLGLLLPNDDLREQVYDYIPLLLAEYQGKGHLPPFANPLQVLRQILGLSVTTNTPVPQMQLHTIFTELHVQVCNKAPAQHQYSSQ
NLMEMVHCFVALARSYPKELMKFFFSQMETNKEAVRVGTLNLIRAIVSADEPRMSIRAIYLAIRVVKNTISDTRSKVRMAILHIIGQLALCGYQERIKGW
GLKYLSVQLTLSTYKLTNRREKFYQRDLEERMVHKVTMDTVKIITSSVSGMTTEFWVRLLCYIMETDYVEALTPICISLTNLAEHQLHGQDVDVSVAGKS
RQVDLPAPQKLLARLLVLMSSPYKGEGRGIAMLNLLRTLSQSIAPSMADMWELEIALLVRYLEEHTEFTWDQKAWEDKLIQFLRNSLKKTRGSSWSLRLS
KELNNQIASFDSPSLEKGFLYRALGFTLATGLEASKVEVLLLELLYKTDYSNDFDSEGVIMCFGLCARGQVKTVLNVLHDFEERIQESEQSWQISAWRKD
HPWRRETVKSALMVMYSCVASYCHPQLLLNLVDSPITAKIIHHYVSSCQDICLKMAFMKSVVQVTKAINNIKDLEDFHFAQKTTLTSIIVAVIKAEPTDN
LVSPVRALAMEALSHLSKLKPFYSTEENSELMDISIHSVISLQLPGEDNESIKTLYANALSSLEQLMESLLQRQLDPKGLQEMVQLLEKWILSEKEWERE
KAVSLHLYLMRIYVHSTAVCIHLKLGQFGTMVGLIAPCTCDAHQRTRMASMNVLSSLLDLHASQTCSLWGPSKQKELEKCKGDLQSTDVEKIFCASSRIA
KVVCMEFSCDEVVSLIQKLCENTGAMNLQHDKASVTWIAFFLQMRAKELEDKVAEILSAILVHLPVVDHPEVRRLLIDGILLLAHHHQETILTSLLRQPL
PMESHLAEVWLAVSENVPFARTMLHSLMGRLQSRLSPRISATSKADIWRLAAVDPLMTLCTIHLLIQKLDENDKLPDFLPDLIYTLLLQLGSSHRPEAAP
PVLKMWKLVHTTPLPEEMNLQRCSRGRVTIKSMQLLFKRVKSQHLAHTLDEQAVWDLLQDGGTFLEGVSLLARLCMQHVEGHRQRLAELVLRGMDSEVLS
CRISSTAVCVEFMSGPVLYQEKLLKPAALLLEKGADQEEDEALRVLSLRALGNMALGAPKKVKQYRKVLLEKCLGPLREPVSNSVTAEGMEALTKILAEL
REGDVGSSFDAMSEQCRIFFDNESELLRLKAFILFGKLARVVGMSKKHFFKGEVKKAWIPLMLHSQDPCSNAAQACMATMFQCVHFWGWKSLEHPSGPSD
TATDDKMTVFQTTMCSILTRKKPAVLYRFLLETMAYVKNNLSRIRIAACNLAGIIMKQMSTHYLKKLDFPALRNSLQELQLDPDPGVRRAALETLTVLDS
CSQHGFLASPQGMS


SNP Information

Context             (SEQ ID NO:5784):
ATTTTCACAGAACTGCACGTCCAGGTGTGCAACAAGGCCCCGGCCCAGCATCAGTACAGCAGCCAGAATCTGATGGAGATGGTGCACTGCTTCGTAGCCC
Y
TGCTCGCTCCTACCCCAAGGAGCTGATGAAGTTCTTCTTCAGCCAGATGGAGACAAACAAGGAGGCCGTCCGCGTGGGGACTCTGAATCTGATTAGGGCT
Celera SNP ID:            hCV2669288
SNP Position Transcript:  1318
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,6|T,8)      total(C,6|T,8) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 412, (L,CTC)   (L,CTT)      412, (L,CTT)   (L,CTC)      



Context             (SEQ ID NO:5785):
AGATGACCGTTTTCCAGACAACCATGTGCTCCATCCTGACTCGGAAAAAGCCGGCTGTTCTCTACCGCTTCTTGCTAGAAACAATGGCCTATGTTAAAAA
R
AACTTGTCAAGAATCAGAATCGCTGCTTGCAACTTGGCAGGAATTATTATGAAGCAGATGTCTACACATTATCTGAAAAAGCTGGACTTCCCAGCATTAC
Celera SNP ID:            hCV7607488
SNP Position Transcript:  5000
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1640, (I,ATT)   (V,GTT)      1640, (V,GTT)   (I,ATT)      



Context             (SEQ ID NO:5786):
TGCAGCACGTGGAGGGCCACAGGCAGAGGCTGGCCGAGCTGGTGCTCAGGGGCATGGACTCAGAAGTCCTGAGCTGCCGCATCAGCAGCACAGCGGTCTG
R
GTGGAATTCATGAGCGGCCCAGTTCTGTACCAGGAGAAGCTGCTGAAGCCGGCAGCTTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAAGACGAGGCCC
Celera SNP ID:            hCV2669250
SNP Position Transcript:  4310
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1410, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5787):
GTTTAGCTGCGATGAGGTGGTCTCGCTCATCCAGAAGCTCTGCGAGAACACTGGGGCCATGAACCTGCAGCATGACAAGGCCTCTGTCACCTGGATAGCC
Y
TCTTCCTCCAGATGCGGGCCAAGGAGCTGGAGGACAAGGTGGCCGAGATCCTGAGTGCCATCCTGGTGCACCTGCCGGTGGTGGACCACCCAGAGGTGCG
Celera SNP ID:            hCV2669251
SNP Position Transcript:  3501
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1140, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:5788):
GAGCTTGAGAAATGTAAGGGGGACCTCCAGAGCACAGATGTGGAGAAGATCTTCTGTGCATCCTCCAGAATCGCCAAGGTGGTCTGCATGGAGTTTAGCT
Y
CGATGAGGTGGTCTCGCTCATCCAGAAGCTCTGCGAGAACACTGGGGCCATGAACCTGCAGCATGACAAGGCCTCTGTCACCTGGATAGCCTTCTTCCTC
Celera SNP ID:            hCV2669252
SNP Position Transcript:  3409
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 1109, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5789):
CCAAGGGGCTGCAGGAGATGGTGCAGCTCCTGGAAAAGTGGATCTTGTCGGAGAAAGAATGGGAGCGGGAAAAGGCCGTGAGCCTCCATCTCTATCTCAT
Y
CGGATTTATGTCCACAGCACTGCTGTCTGTATCCACCTAAAGCTGGGGCAGTTTGGCACAATGGTCGGACTCATTGCCCCGTGCACCTGTGATGCCCATC
Celera SNP ID:            hCV2669260
SNP Position Transcript:  3113
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1011, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:5790):
GCGGCCCAGTTCTGTACCAGGAGAAGCTGCTGAAGCCGGCAGCTTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAAGACGAGGCCCTGCGGGTGCTGTC
M
CTGCGCGCCCTCGGCAACATGGCCCTGGGCGCCCCCAAGAAGGTGAAGCAGTACCGGAAGGTCTTGCTGGAGAAGTGCCTGGGCCCCCTGAGGGAGCCCG
Celera SNP ID:            hCV29368021
SNP Position Transcript:  4424
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 1448, (R,AGG)   (R,CGG)      



Context             (SEQ ID NO:5791):
GTGATGCCCATCAAAGAACCCGCATGGCCTCAATGAATGTCCTGTCCAGCCTGCTAGATCTTCACGCAAGCCAGACCTGCTCCTTGTGGGGCCCTTCCAA
S
CAGAAGGAGCTTGAGAAATGTAAGGGGGACCTCCAGAGCACAGATGTGGAGAAGATCTTCTGTGCATCCTCCAGAATCGCCAAGGTGGTCTGCATGGAGT
Celera SNP ID:            hCV2669254
SNP Position Transcript:  3302
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   Caucasian(G,3|C,81)   no_pop(C,-|G,-)   Asians(G,33|C,47)   total(G,36|C,128)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1074, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:5792):
GCTGGACCCGGATCCCGGGGTCAGGAGGGCAGCCCTGGAGACGCTCACAGTCTTGGATAGCTGTAGTCAGCATGGGTTTCTGGCTTCACCCCAAGGAATG
Y
CCTAGGTGGTCCAAACATAAGACGTAAACTGTCTTCTTAGTGCCAAATGCAAGCCCTTTTTAATTTAGTTTGTAAGAAGTTTAGTTTGTAGGAAAAACAC
Celera SNP ID:            hCV15958788
SNP Position Transcript:  5223
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,25|T,1)   total(C,56|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1714, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,147|C,1356)   total(C,1356|T,147) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1714, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:5793):
AGCACCTGGAGGAGAGCGTGTACCCCGTGATGACTGAGGAGGAGTTTGCCCTGAAGGTGTTCCCCATGTATCGCTACTTCGTGACAGTGTGGCTGAGGCA
Y
CACAACCCCGAGGTGAAGCTGGGGGTGATCAAGTCCCTGAAGCCCATGCTCGGCCTCCTTCTGCCCAACGATGACCTGCGGGAGCAGGTCTACGACTACA
Celera SNP ID:            hCV7607446
SNP Position Transcript:  983
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 301, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:5794):
GAGTTCACTTGGGATCAGAAAGCCTGGGAAGACAAGCTGATTCAGTTTCTGCGAAACTCCCTCAAGAAGACCCGGGGGTCTAGCTGGAGCCTGCGCTTGA
Y
TAAAGAGCTGAACAACCAGATTGCGAGCTTTGACAGCCCCTCTCTGGAGAAGGGCTTTCTGTACCGGGCCTTGGGCTTCACCTTGGCCACAGGCCTGGAG
Celera SNP ID:            hCV28026199
SNP Position Transcript:  2182
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 700, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:5795):
ACGTGGAGGGCCACAGGCAGAGGCTGGCCGAGCTGGTGCTCAGGGGCATGGACTCAGAAGTCCTGAGCTGCCGCATCAGCAGCACAGCGGTCTGCGTGGA
R
TTCATGAGCGGCCCAGTTCTGTACCAGGAGAAGCTGCTGAAGCCGGCAGCTTTGCTGCTGGAGAAGGGTGCCGACCAGGAGGAAGACGAGGCCCTGCGGG
Celera SNP ID:            hCV2669249
SNP Position Transcript:  4316
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1412, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5796):
TGGCGCACCACCACCAGGAGACCATCCTCACATCGCTCCTGAGGCAGCCACTGCCCATGGAGAGCCACCTGGCAGAGGTGTGGCTGGCAGTGTCGGAGAA
R
GTGCCCTTCGCCCGGACCATGCTCCACAGCCTGATGGGCCGGCTGCAGTCACGGCTCAGCCCCAGAATCAGTGCCACCTCCAAGGCTGACATCTGGCGCC
Celera SNP ID:            hCV29368018
SNP Position Transcript:  3731
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1217, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5797):
ATTTAGTTTGTAAGAAGTTTAGTTTGTAGGAAAAACACTATTGTAAAATAACTAGTATCCTTTTGTTTCCTTCCGTTGAAATAAACCTCCACTGTCGTTG
W
AGTAGACTT
Celera SNP ID:            hCV2641559
SNP Position Transcript:  5386
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|A,10)   total(A,10|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1768, (K,AAA)   (N,AAT)      



Context             (SEQ ID NO:5798):
GCAGGTCTACGACTACATCCCCCTGCTGCTGGCGGAGTACCAGGGCAAAGGTCACCTGCCACCATTTGCCAATCCACTGCAGGTCTTGAGGCAGATCCTG
R
GACTGTCAGTCACCACCAACACCCCTGTCCCCCAAATGCAGCTACACACCATTTTCACAGAACTGCACGTCCAGGTGTGCAACAAGGCCCCGGCCCAGCA
Celera SNP ID:            hCV2669290
SNP Position Transcript:  1167
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,10)      total(G,10|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 362, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:5799):
ATGCTGCACTCCCAGGACCCCTGCTCCAATGCAGCCCAAGCCTGTATGGCTACCATGTTTCAGTGTGTGCACTTCTGGGGCTGGAAGTCCCTGGAGCATC
R
CTCAGGGCCAAGTGATACCGCTACTGATGACAAGATGACCGTTTTCCAGACAACCATGTGCTCCATCCTGACTCGGAAAAAGCCGGCTGTTCTCTACCGC
Celera SNP ID:            hCV2296966
SNP Position Transcript:  4867
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 1595, (P,CCA)   (P,CCG)      1595, (P,CCG)   (P,CCA)      



Context             (SEQ ID NO:5800):
GTGATACCGCTACTGATGACAAGATGACCGTTTTCCAGACAACCATGTGCTCCATCCTGACTCGGAAAAAGCCGGCTGTTCTCTACCGCTTCTTGCTAGA
R
ACAATGGCCTATGTTAAAAATAACTTGTCAAGAATCAGAATCGCTGCTTGCAACTTGGCAGGAATTATTATGAAGCAGATGTCTACACATTATCTGAAAA
Celera SNP ID:            hCV7607481
SNP Position Transcript:  4979
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 1633, (T,ACT)   (A,GCT)      1633, (A,GCT)   (T,ACT)      



Context             (SEQ ID NO:5801):
AGAGCTTTTTCTTGTGGTTAATATCTGTTTAATCCAGAAGAAGACCCTAAGGAAAGAGCTTGAGGAAGAGATGACTGAAGCCATTACAGAAGCAGCAGTA
M
ACTCAAGTGAGGAGGTGTCAGAGGAAAGAGACGACCTGGGGCCTCTTGAATTACATGACAGTGGTACCTTTCAACAAGTCGTGAACCTTCTGGACATCAT
Celera SNP ID:            hCV2965185
SNP Position Transcript:  204
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,6)      total(A,6|C,3) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1003, 41, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:5802):
AGGGCTATAGTGAGCGCAGATGAGCCCAGGATGAGTATCAGGGCCATCTACCTGGCTATCCGGGTAGTCAAGAACACCATCTCTGATACCCGGTCCAAGG
R
GAGGATGGCTATTCTCCACATCATTGGGCAGTTGGCTCTCTGTGGCTACCAGGAGAGAATCAAAGGCTGGGGCCTGAAGTACCTGTCTGTGCAGCTGACC
Celera SNP ID:            hCV2669285
SNP Position Transcript:  1513
SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,4)   total(G,4|A,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1003, 477, (V,GTA)   (V,GTG)      



Gene Number:                 109
Celera Gene:                 hCG2012957 - 145000147120007
Celera Transcript:           hCT2303733 - 145000147120008
Public Transcript Accession: 
Celera Protein:              hCP1808767 - 197000064951408
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VWPT(43127951..43128938)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:307):
ATGAATTAATTCCTCCCACTGTCAGCTRGAAGCCATCCCTGGCTGAGCCCTGCACTGGCCAGAGRCAACTGAGTGTGAGCCAGTCCAGGGTCAGATCCTG
GGCTGATGCCACCTGAGGGCGGGGTGGGGGCGTGGCCTCCGTGCACATGGGAGACTCCAGGTGCAGGAGAGGGGGAGGTGGACTTCCTCTTGGTCTTCCC
AAGCCATGAAAYTTCCTGGCTTGGTGGTAACAGAAGAGTCTCCTCCAGGAYGGACTAGCCAGTCCTAACACAGGACTAGCGTTGCTCTACCACGTCCAAG
CCTCCTCTGAGATTCTTCCTCCATGCAACCACTTCCCCTGGGGCGTGGCCACCTCCCTGGAAGCCGCCAGCATGCTCGGCTGGGCCCCCGCACTCTGGAG
GCTTGAGAATCTCTCTATTTTTGAATGACGTCCTTATCCTCTGCCCCCAGGCTGTTCCCTTGAAGAATCCACCTTCCTGCAGGGTTGGGGGAGCGCAGAA
TGGGAGGAAGATACAAATACCAATTTTATAGCAAGAATGCAAAAAGAGGCCAGCGCGGTGGCTCGAGCCTGGAATCCCAGCACTTTGGA

Protein Sequence    (SEQ ID NO:1004):
MPPEGGVGAWPPCTWETPGAGEGEVDFLLVFPSHETSWLGGNRRVSSRTD


SNP Information

Context             (SEQ ID NO:5803):
ATGAATTAATTCCTCCCACTGTCAGCTAGAAGCCATCCCTGGCTGAGCCCTGCACTGGCCAGAG
R
CAACTGAGTGTGAGCCAGTCCAGGGTCAGATCCTGGGCTGATGCCACCTGAGGGCGGGGTGGGGGCGTGGCCTCCGTGCACATGGGAGACTCCAGGTGCA
Celera SNP ID:            hCV29368743
SNP Position Transcript:  65
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1004, None   



Context             (SEQ ID NO:5804):
CCTGAGGGCGGGGTGGGGGCGTGGCCTCCGTGCACATGGGAGACTCCAGGTGCAGGAGAGGGGGAGGTGGACTTCCTCTTGGTCTTCCCAAGCCATGAAA
Y
TTCCTGGCTTGGTGGTAACAGAAGAGTCTCCTCCAGGACGGACTAGCCAGTCCTAACACAGGACTAGCGTTGCTCTACCACGTCCAAGCCTCCTCTGAGA
Celera SNP ID:            hCV15969508
SNP Position Transcript:  212
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1004, 36, (T,ACT)   (I,ATT)      36, (I,ATT)   (T,ACT)      



Context             (SEQ ID NO:5805):
GAGACTCCAGGTGCAGGAGAGGGGGAGGTGGACTTCCTCTTGGTCTTCCCAAGCCATGAAACTTCCTGGCTTGGTGGTAACAGAAGAGTCTCCTCCAGGA
Y
GGACTAGCCAGTCCTAACACAGGACTAGCGTTGCTCTACCACGTCCAAGCCTCCTCTGAGATTCTTCCTCCATGCAACCACTTCCCCTGGGGCGTGGCCA
Celera SNP ID:            hCV29368747
SNP Position Transcript:  251
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1004, 49, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:5806):
ATGAATTAATTCCTCCCACTGTCAGCT
R
GAAGCCATCCCTGGCTGAGCCCTGCACTGGCCAGAGGCAACTGAGTGTGAGCCAGTCCAGGGTCAGATCCTGGGCTGATGCCACCTGAGGGCGGGGTGGG
Celera SNP ID:            hCV15969509
SNP Position Transcript:  28
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,317|A,414)   total(G,317|A,414) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1004, None   



Gene Number:                 110
Celera Gene:                 hCG2013161 - 145000147122494
Celera Transcript:           hCT2304034 - 145000147122495
Public Transcript Accession: NM_022449
Celera Protein:              hCP1808734 - 197000064951375
Public Protein Accession:    NP_071894
Gene Symbol:                 RAB17
Protein Name:                RAB17, member RAS oncogene family;FLJ12538
Celera Genomic Axis:         GA_x5YUV32VWPT(43111344..43128023)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:308):
TCAGTTGYCTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTCYAGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGG
GCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAGGAAGGAGCCAAGAAAAACATTCTGTGCCAAAGTGAGATCCTGGAAGTGAAACCCC
RGAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCCRGGTCACCTG
CTTTGAGGTCCAGCCTCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGC
TGGGGTCCAGTGGGCRYTGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTG
CCTGTGGAGGGAAGCAAACCTTCCCCTGGACCAGAGAGAGGAGAAAGCGGAGACAGGTAGCAACGCTGTGGACTGGTGATGACAGGCTCTTCAGCTCCCT
GCAAGTGACCGGGCCTGGGGAACAGGGCATGGCACAGGCACACAGGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTGYGTTCAAGCTGGTTCTC
CTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTAYGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAA
AGGTGGTGGATGTGGGYGCCACCTCTCTGAAGCTTGAGATCTGGGACACAGCTGGCCAGGAGAAGTACCACAGCGTCTGCCACCTCTACTTCAGGGGTGC
CAACGCTGCGCTTCTGGTGTACGACATCACCAGGAAGGATTCCTTCCTCAAGGCTCAGCAGTGGCTGAAGGACCTGGAGGAGGAGCTGCACCCAGGAGAA
GTCCTGGTGATGCTGGTGGGCAACAAGACGGACCTCAGCCAGGAGCGGGAGGTGACCTTCCAGGAAGGGAAGGAGTTTGCCGACAGCCAGAAGTTGCTGT
TCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGARGCGACGAGGAGGGCCAGGCTCY
ACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGYGCCCACTAGGTGCAGCYACTCCTGGGGGCTGTGGGGAAGACA
CCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGGTTGCTCCCGAGCCCTAGATGTTCCTGGAAGTTGGCCCCCTTT
ATGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTCRCATGGCTCCCAGGAAAGTGCTGTGCCCTATCCCCACTGATACCATC
TGATTCCCCGATGCCTGTGCCTGTTCCACCTGGACGGTGGCCCCCTCAGCCTGGCAGCCTCTGGACAGAGAGGAAGGAAGGATTGGAAAAGTCCCCGSAG
CACAGCGACGGTGGGAAGATGCCTTACGTCTGATCTTGATGGGGGCACTGGCCTGGAGCCTGGGCCCACCTGCTTCTGGGGGGTTGGGGAGCAGGCCAGA
TGGAGGTGGTGGTGCCAGGAARAAATGGAGCGATGACTGACTGTGGGGTGGGCCCAGGATTTCCRCATCTTGGTGAAGTTGCCCCTGGRAAGGGCAGCTG
GGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATTYTGAGACATTTCGCCT
GAGATATAAGTTGTACTGCGTATGCAGTTTTTCCTCCAAAAATTAAATTGCTTTTGACAATCTG

Protein Sequence    (SEQ ID NO:1005):
MAQAHRTPQPRAAPSQPRVFKLVLLGSGSVGKSSLALRYVKNDFKSILPTVGCAFFTKVVDVGATSLKLEIWDTAGQEKYHSVCHLYFRGANAALLVYDI
TRKDSFLKAQQWLKDLEEELHPGEVLVMLVGNKTDLSQEREVTFQEGKEFADSQKLLFMETSAKLNHQVSEVFNTVAQELLQRSDEEGQALRGDAAVALN
KGPARQAKCCAH


SNP Information

Context             (SEQ ID NO:5807):
CCTTACGTCTGATCTTGATGGGGGCACTGGCCTGGAGCCTGGGCCCACCTGCTTCTGGGGGGTTGGGGAGCAGGCCAGATGGAGGTGGTGGTGCCAGGAA
R
AAATGGAGCGATGACTGACTGTGGGGTGGGCCCAGGATTTCCACATCTTGGTGAAGTTGCCCCTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCT
Celera SNP ID:            hCV11935213
SNP Position Transcript:  1722
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5808):
GCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAGGAAGGAGCCAAGAAAAACATTCTGTGCCAAAGTGAGATCCTGGAAGTGAAACCCC
R
GAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCCGGGTCACCTGC
Celera SNP ID:            hCV15969510
SNP Position Transcript:  201
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,308|G,1173)   total(G,1173|A,308) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5809):
GAGCAGGCCAGATGGAGGTGGTGGTGCCAGGAAGAAATGGAGCGATGACTGACTGTGGGGTGGGCCCAGGATTTCCACATCTTGGTGAAGTTGCCCCTGG
R
AAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATTCTGAG
Celera SNP ID:            hCV11935207
SNP Position Transcript:  1789
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5810):
CCCACCTGCTTCTGGGGGGTTGGGGAGCAGGCCAGATGGAGGTGGTGGTGCCAGGAAGAAATGGAGCGATGACTGACTGTGGGGTGGGCCCAGGATTTCC
R
CATCTTGGTGAAGTTGCCCCTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTG
Celera SNP ID:            hCV11935208
SNP Position Transcript:  1765
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIG-allele(G,589|A,912)   total(G,589|A,912)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5811):
CCCAAGAGCTACTGCAGAGAAGCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTG
Y
GCCCACTAGGTGCAGCCACTCCTGGGGGCTGTGGGGAAGACACCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGG
Celera SNP ID:            hCV25973482
SNP Position Transcript:  1258
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,17)   caucasian(C,21|T,5)   total(C,36|T,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1005, 210, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:5812):
TCAGTTGCCTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTC
Y
AGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGGGCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAG
Celera SNP ID:            hCV15969509
SNP Position Transcript:  45
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,317|T,414)   total(C,317|T,414) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5813):
GTGAAACCCCGGAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCC
R
GGTCACCTGCTTTGAGGTCCAGCCTCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGA
Celera SNP ID:            hCV15969519
SNP Position Transcript:  291
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,164|G,1121)   total(G,1121|A,164) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5814):
AGGCTCTTCAGCTCCCTGCAAGTGACCGGGCCTGGGGAACAGGGCATGGCACAGGCACACAGGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTG
Y
GTTCAAGCTGGTTCTCCTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTACGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGC
Celera SNP ID:            hCV25960078
SNP Position Transcript:  684
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,26)   caucasian(C,4|T,32)   total(C,14|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1005, 19, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:5815):
TCAGTTG
Y
CTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTCTAGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGGGCTGTTGG
Celera SNP ID:            hCV29368743
SNP Position Transcript:  8
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5816):
TGCCGACAGCCAGAAGTTGCTGTTCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGA
R
GCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGCCACT
Celera SNP ID:            hCV25972958
SNP Position Transcript:  1178
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,36)   total(A,59|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1005, 184, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:5817):
GGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTGTGTTCAAGCTGGTTCTCCTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTA
Y
GTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAAAGGTGGTGGATGTGGGTGCCACCTCTCTGAAGCTTGAGATCTGGG
Celera SNP ID:            hCV25960196
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,31|T,5)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1005, 39, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5818):
TGGGTAAGTCCAGCTTGGCTCTTCGGTACGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAAAGGTGGTGGATGTGGG
Y
GCCACCTCTCTGAAGCTTGAGATCTGGGACACAGCTGGCCAGGAGAAGTACCACAGCGTCTGCCACCTCTACTTCAGGGGTGCCAACGCTGCGCTTCTGG
Celera SNP ID:            hCV25959643
SNP Position Transcript:  817
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,5|T,29)   total(C,5|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1005, 63, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5819):
CCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGCTGGGGTCCAGTGGGCA
Y
TGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTGCCTGTGGAGGGAAGCAA
Celera SNP ID:            hCV312706
SNP Position Transcript:  417
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,8)      total(C,1|T,8) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5820):
ATCTGATTCCCCGATGCCTGTGCCTGTTCCACCTGGACGGTGGCCCCCTCAGCCTGGCAGCCTCTGGACAGAGAGGAAGGAAGGATTGGAAAAGTCCCCG
S
AGCACAGCGACGGTGGGAAGATGCCTTACGTCTGATCTTGATGGGGGCACTGGCCTGGAGCCTGGGCCCACCTGCTTCTGGGGGGTTGGGGAGCAGGCCA
Celera SNP ID:            hCV8738532
SNP Position Transcript:  1598
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5821):
TCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGCTGGGGTCCAGTGGGC
R
TTGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTGCCTGTGGAGGGAAGCA
Celera SNP ID:            hCV312707
SNP Position Transcript:  416
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5822):
CTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATT
Y
TGAGACATTTCGCCTGAGATATAAGTTGTACTGCGTATGCAGTTTTTCCTCCAAAAATTAAATTGCTTTTGACAATCTG
Celera SNP ID:            hCV8738533
SNP Position Transcript:  1885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5823):
AGAAGCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGC
Y
ACTCCTGGGGGCTGTGGGGAAGACACCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGGTTGCTCCCGAGCCCTAG
Celera SNP ID:            hCV25973522
SNP Position Transcript:  1275
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,29|T,5)   total(C,60|T,6)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None



Context             (SEQ ID NO:5824):
CTGGGTTGCTCCCGAGCCCTAGATGTTCCTGGAAGTTGGCCCCCTTTATGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTC
R
CATGGCTCCCAGGAAAGTGCTGTGCCCTATCCCCACTGATACCATCTGATTCCCCGATGCCTGTGCCTGTTCCACCTGGACGGTGGCCCCCTCAGCCTGG
Celera SNP ID:            hCV15969866
SNP Position Transcript:  1454
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(G,577|A,906)   total(G,577|A,906)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1005, None   



Context             (SEQ ID NO:5825):
TTCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGAAGCGACGAGGAGGGCCAGGCTC
Y
ACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGCCACTCCTGGGGGCTGTGGGGAAGACA
Celera SNP ID:            hCV15969867
SNP Position Transcript:  1200
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,15)   caucasian(C,7|T,23)   total(C,26|T,38)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1005, 191, (P,CCA)   (L,CTA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,574|T,911)   total(C,574|T,911) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1005, 191, (P,CCA)   (L,CTA)      



Gene Number:                 110
Celera Gene:                 hCG2013161 - 145000147122494
Celera Transcript:           hCT2304033 - 145000147122505
Public Transcript Accession: NM_022449
Celera Protein:              hCP1808735 - 197000064951376
Public Protein Accession:    NP_071894
Gene Symbol:                 RAB17
Protein Name:                RAB17, member RAS oncogene family;FLJ12538
Celera Genomic Axis:         GA_x5YUV32VWPT(43111350..43128023)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:309):
TCAGTTGYCTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTCYAGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGG
GCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAGGAAGGAGCCAAGAAAAACATTCTGTGCCAAAGTGAGATCCTGGAAGTGAAACCCC
RGAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCCRGGTCACCTG
CTTTGAGGTCCAGCCTCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGC
TGGGGTCCAGTGGGCRYTGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTG
CCTGTGGAGGGAAGCAAACCTTCCCCTGGACCAGAGAGAGGAGAAAGCGGAGACAGGTAGCAACGCTGTGGACTGGTGATGACAGGCTCTTCAGCTCCCT
GCAAGTGACCGGGCCTGGGGAACAGGGCATGGCACAGGCACACAGGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTGYGTTCAAGCTGGTTCTC
CTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTAYGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAA
AGGTGGTGGATGTGGGYGCCACCTCTCTGAAGCTTGAGATCTGGGACACAGCTGGCCAGGAGAAGTACCACAGCGTCTGCCACCTCTACTTCAGGGGTGC
CAACGCTGCGCTTCTGGTGTACGACATCACCAGGAAGGATTCCTTCCTCAAGGCTCAGCAGTGGCTGAAGGACCTGGAGGAGGAGCTGCACCCAGGAGAA
GTCCTGGTGATGCTGGTGGGCAACAAGACGGACCTCAGCCAGGAGCGGGAGGTGACCTTCCAGGAAGGGAAGGAGTTTGCCGACAGCCAGAAGTTGCTGT
TCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGARGCGACGAGGAGGGCCAGGCTCY
ACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGYGCCCACTAGGTGCAGCYACTCCTGGGGGCTGTGGGGAAGACA
CCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGGTTGCTCCCGAGCCCTAGATGTTCCTGGAAGTTGGCCCCCTTT
ATGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTCRCATGGCTCCCAGGAAAGATTTCCRCATCTTGGTGAAGTTGCCCCTG
GRAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATTYTG
AGACATTTCGCCTGAGATATAAGTTGTACTGCGTATGCAGTTTTTCCTCCAAAAATTAAATTGCTTTTGAC

Protein Sequence    (SEQ ID NO:1006):
MAQAHRTPQPRAAPSQPRVFKLVLLGSGSVGKSSLALRYVKNDFKSILPTVGCAFFTKVVDVGATSLKLEIWDTAGQEKYHSVCHLYFRGANAALLVYDI
TRKDSFLKAQQWLKDLEEELHPGEVLVMLVGNKTDLSQEREVTFQEGKEFADSQKLLFMETSAKLNHQVSEVFNTVAQELLQRSDEEGQALRGDAAVALN
KGPARQAKCCAH


SNP Information

Context             (SEQ ID NO:5826):
GCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAGGAAGGAGCCAAGAAAAACATTCTGTGCCAAAGTGAGATCCTGGAAGTGAAACCCC
R
GAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCCGGGTCACCTGC
Celera SNP ID:            hCV15969510
SNP Position Transcript:  201
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,308|G,1173)   total(G,1173|A,308) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5827):
TGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTCACATGGCTCCCAGGAAAGATTTCCACATCTTGGTGAAGTTGCCCCTGG
R
AAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATTCTGAG
Celera SNP ID:            hCV11935207
SNP Position Transcript:  1502
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5828):
GTTCCTGGAAGTTGGCCCCCTTTATGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTCACATGGCTCCCAGGAAAGATTTCC
R
CATCTTGGTGAAGTTGCCCCTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTG
Celera SNP ID:            hCV11935208
SNP Position Transcript:  1478
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIG-allele(G,589|A,912)   total(G,589|A,912)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5829):
CCCAAGAGCTACTGCAGAGAAGCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTG
Y
GCCCACTAGGTGCAGCCACTCCTGGGGGCTGTGGGGAAGACACCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGG
Celera SNP ID:            hCV25973482
SNP Position Transcript:  1258
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,17)   caucasian(C,21|T,5)   total(C,36|T,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1006, 210, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:5830):
TCAGTTGCCTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTC
Y
AGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGGGCTGTTGGTTTTTCAAGTGCAACAAAGATTCCATACAGCTCCAAG
Celera SNP ID:            hCV15969509
SNP Position Transcript:  45
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,317|T,414)   total(C,317|T,414) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5831):
GTGAAACCCCGGAATAAAGCTGAAAAACGGGCTCCAGTTGGGTGCCAGGAAATGCAGGACTGGAATGTGACTTGACTTCCGGCAGCGCGCAGGTGCTCCC
R
GGTCACCTGCTTTGAGGTCCAGCCTCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGA
Celera SNP ID:            hCV15969519
SNP Position Transcript:  291
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,164|G,1121)   total(G,1121|A,164) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5832):
AGGCTCTTCAGCTCCCTGCAAGTGACCGGGCCTGGGGAACAGGGCATGGCACAGGCACACAGGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTG
Y
GTTCAAGCTGGTTCTCCTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTACGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGC
Celera SNP ID:            hCV25960078
SNP Position Transcript:  684
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,26)   caucasian(C,4|T,32)   total(C,14|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1006, 19, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:5833):
TCAGTTG
Y
CTCTGGCCAGTGCAGGGCTCAGCCAGGGATGGCTTCTAGCTGACAGTGGGAGGAATTAATTCATCTGACCGGAATATTCTTTTCTCTTCTGGGCTGTTGG
Celera SNP ID:            hCV29368743
SNP Position Transcript:  8
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5834):
TGCCGACAGCCAGAAGTTGCTGTTCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGA
R
GCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGCCACT
Celera SNP ID:            hCV25972958
SNP Position Transcript:  1178
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,36)   total(A,59|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1006, 184, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:5835):
GGACCCCCCAGCCCAGGGCTGCCCCCAGCCAGCCCCGTGTGTTCAAGCTGGTTCTCCTGGGAAGTGGCTCCGTGGGTAAGTCCAGCTTGGCTCTTCGGTA
Y
GTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAAAGGTGGTGGATGTGGGTGCCACCTCTCTGAAGCTTGAGATCTGGG
Celera SNP ID:            hCV25960196
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,31|T,5)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1006, 39, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:5836):
TGGGTAAGTCCAGCTTGGCTCTTCGGTACGTGAAGAACGACTTCAAGAGTATCCTGCCTACGGTGGGCTGTGCGTTCTTCACAAAGGTGGTGGATGTGGG
Y
GCCACCTCTCTGAAGCTTGAGATCTGGGACACAGCTGGCCAGGAGAAGTACCACAGCGTCTGCCACCTCTACTTCAGGGGTGCCAACGCTGCGCTTCTGG
Celera SNP ID:            hCV25959643
SNP Position Transcript:  817
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,5|T,29)   total(C,5|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1006, 63, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:5837):
CCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGCTGGGGTCCAGTGGGCA
Y
TGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTGCCTGTGGAGGGAAGCAA
Celera SNP ID:            hCV312706
SNP Position Transcript:  417
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,8)      total(C,1|T,8) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5838):
TCCTGCCCTGCCTCAGGTGACCACATGACCACTGTGGACTTTGCCCTGAAACCTTCTGGGAGGAGAAGAGGCCTGACCTTGGCGCTGGGGTCCAGTGGGC
R
TTGCTCTGGTCCGAGGCTGCTGCTCTTGACCTCTGCTCTGCGGCTGTTTTCCATTGGAGTAGAGGCTCCTCCTGTCCTGTCCTGCCTGTGGAGGGAAGCA
Celera SNP ID:            hCV312707
SNP Position Transcript:  416
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5839):
CTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGGCAATGTGGTGAAGCTGAGTTTCTGTCCAATGAGCAGGAAGATT
Y
TGAGACATTTCGCCTGAGATATAAGTTGTACTGCGTATGCAGTTTTTCCTCCAAAAATTAAATTGCTTTTGAC
Celera SNP ID:            hCV8738533
SNP Position Transcript:  1598
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5840):
AGAAGCGACGAGGAGGGCCAGGCTCTACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGC
Y
ACTCCTGGGGGCTGTGGGGAAGACACCCCCTGCCTGGGCCATGGCCAGCTCTAGGTGGATTCTGATTCACTGTCAATGCTGGGTTGCTCCCGAGCCCTAG
Celera SNP ID:            hCV25973522
SNP Position Transcript:  1275
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,29|T,5)   total(C,60|T,6)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1006, None



Context             (SEQ ID NO:5841):
CTGGGTTGCTCCCGAGCCCTAGATGTTCCTGGAAGTTGGCCCCCTTTATGAAAACCACTTCCCACAGCCAGTGGGAACTGCCAGAGGAAGATCTGGCGTC
R
CATGGCTCCCAGGAAAGATTTCCACATCTTGGTGAAGTTGCCCCTGGGAAGGGCAGCTGGGGGCAGTGGCGCCAGTTCCCTTCCATGGTCTCCCGGCTGG
Celera SNP ID:            hCV15969866
SNP Position Transcript:  1454
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(G,577|A,906)   total(G,577|A,906)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1006, None   



Context             (SEQ ID NO:5842):
TTCATGGAAACTTCGGCCAAACTGAACCACCAGGTGTCGGAGGTGTTCAATACAGTGGCCCAAGAGCTACTGCAGAGAAGCGACGAGGAGGGCCAGGCTC
Y
ACGGGGGGATGCAGCTGTGGCTCTGAACAAGGGGCCCGCGAGGCAGGCCAAATGCTGCGCCCACTAGGTGCAGCCACTCCTGGGGGCTGTGGGGAAGACA
Celera SNP ID:            hCV15969867
SNP Position Transcript:  1200
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,15)   caucasian(C,7|T,23)   total(C,26|T,38)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1006, 191, (P,CCA)   (L,CTA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,574|T,911)   total(C,574|T,911) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1006, 191, (P,CCA)   (L,CTA)      



Gene Number:                 111
Celera Gene:                 hCG2013435 - 84000314069466
Celera Transcript:           hCT2304466 - 84000314069473
Public Transcript Accession: 
Celera Protein:              hCP1808981 - 197000064951622
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VWPT(46553918..46619766)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:310):
GTGAACAACAACGGGATCATCTCCTTCCTGAAGGAGGTTTCTCAGTTCACCCCAGTGGCCTTCCCCATTGCCAAGGACCGCTGCGTGGTGGCAGCCTTCT
GGGCAGATGTGGACAACCGGCGTGCAGGCGACGTGTACTACCGGGAGGCCACCGACCCAGCCATGCTGCGCCGAGCCACGGAGGACGTCAGGCACTACTT
CCCCGAGCTCCTGGACTTCAATGCCACCTGGGTTTTTGTTGCCACCTGGTACCGAGTGACCTTCTTTGGAGGCAGTTCCTCATCCCCTGTCAACACATTC
CAGACTGTGCTCATCACAGACGGCAAGCTCTCCTTCACCATCTTCAACTATGAGTCCATYGTGTGGACCACAGGCACACACGCCAGCAGCGGGGGCAACG
CCACTGGCCTCGGGGGCATCGCAGCCCAGGCTGGCTTCAACGCAGGCGATGGGCAGCGTTACTTCAGTATCCCCGGCTCGCGCACAGCAGACATGGCCGA
GGTGGAGACCACCACCAACGTGGGTGTGCCCGGGCGCTGGGCGTTCAGAATCGATGATGCCCAGGTGCGCGTGGGGGGCTGCGGCCATACAACGTCCGTG
TGCCTGGCCCTGCGCCCCTGCCTCAACGGCGGCAAGTGCATCGACGACTGCGTCACGGGCAACCCCTCCTACACCTGCTCCTGCCTCTCGGGCTTCACGG
GGCGGAGGTGCCACCTGGACRTGAACGAATGTGCCTCCCAGCCCTGTCAGAATGGTGGGACCTGTACTCACGGCATCAACAGTTTCCGCTGCCAGTGCCC
GGCTGGCTTTGGGGGACCCACCTGTGAGACAGCCCAATCCCCCTGTGACACCAAAGAGTGTCAACATGGTGGCCAGTGCCAGGTGGAGAAYGGCTCTGCG
GTGTGTGTGTGCCAGGCCGGATACACCGGAGCAGCCTGCGAGATGGATGTGGACGACTGCAGCCCTGACCCCTGCCTGAATGGAGGCTCTTGTGTTGACC
TAGTGGGGAATTACACCTGCTTGTGTGCCGAGCCCTTCAAGGGACTTCGCTGTGAGACAGTGCCAGACGCCTGCCTCTCGGCCCCTTGCCACAATGGGGG
CACCTGTGTGGATGCGGACCAGGGCTACGTGTGCGAGTGCCCCGAAGGCTTCATGGGCCTGGACTGCAGGGAGAGGAAGCCAGACTCGTGTGCCTCTGGC
CCCTGTCACAACGGCGGCACCTGCTTCCACTACATTGGCAAATACAAGTGTGACTGTCCCCCAGGCTTCTCCGGGCGGCACTGCGAGATAGCCCCCTCCC
CCTGCTTCCGGAGCCCGTGTGTGAATGGGGGCACCTGCGAGGACCGGGACACGGATTTCTTCTGCCACTGCCAAGCAGGGTACATGGGACGCCGGTGCCA
GGCAGAAATCGATGAGTGCCGGTCTCAGCCGTGCCTGCATGGGGGCTCTTGTCAGGACCGYGTTGCTGGGTACCTGTGCCTCTGCAGCACAGGCTATGAG
GGCGCCCACTGTGAGCTGGAGAGGGATGAGTGCCGAGCTCACCCGTGCAGAAATGGAGGGTCCTGCAGGAACCTCCCAGGGGCCTATGTCTGCCGGTGCC
CTGCAGGCTTCGTTGGAGTCCACTGTGAGACAGAGGTGGACGCCTGCGACTCCAGCCCCTGCCAGCATGGAGGCCGGTGTGAGAGCGGCGGCGGGGCCTA
CCTGTGCGTCTGCCCAGAGAGCTTCTTCGGCTACCACTGCGAGACAGTGAGTGACCCCTGCTTCTCCAGCCCCTGTGGGGGCCGTGGCTATTGCCTGGCC
AGCAACGGCTCCCACAGCTGCACCTGCAAAGTGGGCTACACGGGCGAGGACTGCGCCAAAGAGCTCTTCCCACCGACGGCCCTCAAGATGGAGAGAGTGG
AGGAGAGTGGGGTCTCTATCTCCTGGAACCCGCCCAATGGTCCAGCCGCCAGGCAGATGCTTGATGGCTACGCGGTCACCTACGTCTCCTCCGACGGCTC
CTACCGCCGCACRGACTTTGTGGACAGGACCCGCTCCTCGCACCAGCTCCAGGCCCTGGCGGCCGGCAGGGCCTACAACATCTCCGTCTTCTCAGTGAAG
CGAAACAGTAACAACAAGAATGACATCAGCAGGCCTGCCGTGCTGCTGGCCCGCACGCGACCCCGCCCTGTGGAAGGCTTCGAGGTCACCAATGTGACGG
CTAGCACCATCTCAGTGCAGTGGGCCCTGCACAGGATCCGCCATGCCACCGTCAGTGGGGTCCGTGTGTCCATCCGCCACCCTGAGGCCCTCAGGGACCA
GGCCACCGATGTGGACAGGAGTGTGGACAGGTTCACCTTTAGGGCCCTGCTGCCTGGGAAGAGGTACACCATCCAGCTGACCACCCTCAGTGGGCTCAGG
GGAGAGGAGCACCCCACAGAGAGCCTGGCCACCGCGCCGACGCACGTGTGGACCCGGCCCCTGCCTCCAGCAAACCTGACCGCCGCCCGAGTCACTGCCA
CCTCTGCCCACGTGGTCTGGGATGCCCCGACTCCAGGCAGCTTGCTGGAGGCTTATGTCATCAATGTGACCACCAGCCAGAGCACCAAGAGCCGCTATGT
CCCCAACGGGAAGCTGGCGTCCTACACGGTGCGCGACCTGCTGCCGGGACGGCGGTACCAGCTCTCTGTGATAGCAGTGCAGAGCACGGAGCTCGGGCCG
CAGCACAGCGAGCCCGCCCACCTCTACATCATCACCTCCCCCAGGGATGGCGCTGACAGACGCTGGCACCAGGGAGGACACCACCCTCGGGTGCTCAAGA
ACAGACCGCCCCCGGCGCGCCTGCCGGAGCTGCGCCTGCTCAATGACCACAGCGCCCCCGAGACCCCCACCCAGCCCCCCAGGTTCTCGGAGCTTGTGGA
CGGCAGAGGAAGAGTGAGCGCCAGGTTCGGTGGCTCACCCAGCAAAGCAGCCACCGTGAGATCACACGTCCCTGGCAACTGTTCAGAAAACCCCTGTCAG
AACGGAGGCACTTGTGTGCCGGGCGCAGACGCCCACAGCTGTGACTGCGGGCCAGGGTTCAAAGGCAGACGCTGCGAGCTCGCCTGTATAAAGGTGTCCC
GCCCCTGCACAAGGCTGTTCTCCGAGACAAAGKCCTTTCCAGTCTGGGAGGGAGGCGTCTGTCACCACGTGTATAAAAGAGTCTACCGAGTTCACCAAGA
CATCTGCTTCAAAGAGAGCTGTGAAAGCACAAGCCTCAAGAAGACCCCAAACAGGAAACAAAGTAAGAGTCAGACACTGGAGAAATCTTAAGGATTTAAG
ACGTTCTTGTTACACTCCACCAACCTCACGAGTTTCTAACACCCAGGAAGATGAGGTCTAAAAACTGGATGAAAAAGGACACCCTGAGAAAAGGTCCTAG
CTGGAGTCAGTCCCCTCTGTGACCTCTCTCCTCAGGCCTCTAGAGGACAGATGGCCAGGCCTGTGCACACACCAGCCCACCCTGAGAGACCCCTCTGGGA
CCAACCACCTGTGAGTCCTGCGATGCGTTTAAGCAGCCTGTGCCCTCACCCAAGCTGCAGTTCCTGAAGGTGTAGTCTGTGTCTCTGCGGATGAGATGAC
AGCTCGCCATTCCCCGGAATCAGTGAGGCTGTCAGTCAGCCACGCTTCTGCAGTATGCAGAAACCTGTTCTTAGACTCCAAAGCCAGAGAAAGAATTCTC
CCTTCGAGGCCCAACAAATTGAGAAGGAACTGTGATGGACCACTTCCAAAACAGAGACGGGGGCAGGGGCTGAAGGGCAGAGACCAGGTGATGTCAGAAG
GAAAGCCGGGTTGCAGACACAGCCGCCCCTGCTCTGGTCCTCCAGCGTGTTTATGACGCTCGTGCAGGTCGACGAGCCATCCTATGGACTAGTTAACACT
AAGGTGGAGTTCAGACTTTTTTAGACAACGGCGCGACTGGCAGCCTTTCTCTATCAAGGGTCAGACGGTAAACGTTTTCAGCTTTGCAGACCAGAGGTCC
CTGTGGCTACAGTAGCGCAGACACAGCCACAGGCATGTCATTGAATGGCTGCGGCTATGTTCCAATAAAAACTTATTTACAATAACAGGTGGTGGCCAAA
TTGGCCCATGGGCCTTATTTGGTGAACCCTGTTCTATGAGATCACCTAGGCTTCAGCCTTAAACAGTGGAAGCCATCCCCTGAATGACAAGTCACAAGGG
TATCAAAGAAAGACCCCTGAATTTTCATGGAAAAAGCTATTCAGACCCCTGCTTGGAAAGCTAAGGCACACTGCCACGAAGCAGCAAGGACGCCTTACAA
GTCTCAGTGCAACAGAGATGGACACCTGGGCTGGGCTGGACAATGTTTAAGGTTCCTTTTAGTCCATGACTCAAGTGATACTGTTTTAGGCTATCAGGTA
GTAAACACGATCTTAGACATCCCCATCTTTGTAAGCAGAACAGTACGGCACTTCACCACATCTGCTTCCCACCATGCTTCTAAGCAGCTGTCTTCCCCCT
GCTAATGTTACAACCAAAGCAGCCACCCCACCTCCTCTCGTGTTGAGCCTCACGACCRCTGACCCAGCTGGAAAGCCAGCGCCCTGCCGCGTCACCCTGA
CTCTGCTCAGAGCCAGCATTCCAGCCACAAAGAGGGCCTCCTTCCTTTCCTCTTTCATAAAARTGTTTTTTGAAGAGTTAGAGTATATTTTAGGCTTTTT
ATCTTTATTAAAATTTCATGTGCATGTGTCTGTGTATTCTGCAATTTGTCATTTTCAGAAAGAAGGAACAGGCAATTCGMGAAGTTTCACCTGTACTCCC
GAGCTGTTCCCCAGGCTCCAGACCCACTTGAGAGCAGAAGGTGGAGCTCAATGAAGGGTCTCGAGCTCAGCRAAGGGTCACTGGGTGAACTGAGAGAAAC
CACGTTCACAAACGCGTACTGCGGACTTCCTGCCGCCCTGGGACCTGTCACTGTTTGTCCATGTAAGCTACAGCATTACTAGCAGATGCTAAGATCGAGT
GRTATCACTGGAAAAGTAGGTGAATCCTACTAGGAAACTTTCTACTCCCTACTAGGACCTCAAGCCCCTCAGCCACACAGCAAATGCTAATATGCTCCAG
TGTTAGCTTAGAAGCCTTGTGTCAACAAGAACTGGCTCCTGAGTCCCAAGCTTGGTGCCACACAGCAAATGCTAATATGCTCCAGTGTTAGCTTAGAAGC
CTTGTGTCAACAAGAACTGGCTCCTGAGTCCCAAGCTTGGTGCCACACAGCAAATGCTAATATGCTCCAGTGTTAGCTTAGAAGCCTTGTGTCAACAAGA
ACTGGCTCCTGAGTCCCAAGTGCTGTCACAGGACTTGCCCATTGGGATGTTTTCCACATTAAATATCAAGTAAAAAGACTTCCTGGTGCTCAGGAATTAC
AGTTCGTTCTTGAAACATTCCAAAGAGGCCACCACAGCTTTTCCCATGTGGCTTCTTTTAAAAACTCAAATGGCTTCCTTGAAAATACTCAAAGTCCACC
CAAGGAAATTAGTAATAATAGAATCAGAAAACTGTCAGGAGCATAAAGATTTCTGTATCAAAATGAAAGAAGCAATCCTGAGTTGCTGAATTACCCATCT
GCTAATGAAACCGGGATGGACTGATCATCTAACCAAGTGCAGACTGAGGATTCTACTTAGTCCTCCGACTGGGTACAACAACAGCCTAGGTTCTAGGGAG
GGTGGCAGTGACCGGGATGCCACAATGGAAGAGAAAATGAAAACACTGGCACAGTGAAATGTCTCATTTCCAAACAGTTTTGCCTATGGCCAAGCAAGGC
AATAAAGACAAACTCTCCCTTTTCCCCATTGCRTGTGGGCTGCCAGGTACAAGTAAGGGAATCTTTGCTGTGCCCACTGTCCTCCAGTAGAGAACCCAAC
AGGCAAGGGCCCCACTCAGGTATCAGCTCACCTCCYGCACCTCCCCTTAGCAGGAACTCCTTCCACTGGCAAAGGACTGCCACTGCCATCTGACTCAACT
GTGGCGATGWGGACGGAGTCACCGAGCTGCTTTTCTTTTGCAAAACAAAAGTCTTTTTCTTTGCAGTCACGCTGTAAGACGAGGCTGCTGGAGAAAACAA
AAGCACCTAGATTTCAGTGCTGAATCCCCACAATTGCATGCAGCTCACACCTACCAGGGGTATTCCAGTGCATAGGGGAAAGGAACCCGGCTGAAAAACC
AGCTCCTTATTTTTCTTTTAAATAAAATAATACGATCCTAAGTCCATTTACCATCTGAAGTTGTCACGAGTGAACAGTCACATTACTGTTGTGGACCAGG
CCTTAGATGAGTTTCTCAGGCTCAGCACTGACATTCTGGGCCGGATCATCCTCTCTTGTGGGACCATCCTGTGCACTGCAGGATGTTTYACAGCACCCCT
GGCCTCTACCCACTAGAATCCTACAATCTACCAGATCCTAGGATCTAGTTGATCCTAGAATGCTACCAAGGAGACTTGAATTTTGGTCCCATCATCAAAA
ATGCCTTCTGCATCAATCCTATGCCAGTTTCCCCTAAAAGAGGGCTAACTGGAATGTTCTAGGATGTACCAATCCTCCAGGACCCTCTTAGAGCTCATGC
CATCAGAGACAGGCCTCTATCTCAGGGATCACCCCGGCTGACATCAAATTCCTCTTCTCTTTTCCCAACATTTCAAATTGTTCTTCGGACTCATTGAGTT
CCCTAAGGTGACACGCCCCCCCCCCCCCCCACACCCACCTTGGGGGGTCACGGATTGCTCCCTGTGGCCCTGGCTTCAGCCCACCTGCTCCATGACCCTA
TGCTCTTCTCCTCTGGTTCTCGAAGCTGTCTGTAACCAGGGCAGGGGAGATAACTGTATGGGACCATTCCCTGGCCTCCACCTGCCCCAGCACTCTCCAG
GCCAGCACAGTCTGGCACTACAGACTACAGGGCCGGAGACACCAGGCTTGGAAGTGACCACTGGCCAAGAGCTGACATAAAAGCCAACTTCCCCAAACAG
GAAGGGCCTGTTCTTCACAAAGATAAAGAAAACTGCCAGCATTTTGCTGGCCTTAAGAAGCCATGCAAAATTAACCAGTACATCATGAATTAACTTCTTT
TACTCTGCTGTGCACTGAATACCATTATGAAGCAATATACTTTTGGATTAAAAATAAGCATTTTTGTGGAAAATCTGCTACATGTTTTCATAAAATAAAG
TGCTATGATGTACTAAAACCTCACATTGCCTTCTCGTAATTTTATTTTTATCACAAGAAGGAAATACATAGTGATTCCTGAACCGGAAGAATGAACCCCA
TCTTCCAACTGTCACGGAATTATCACCAACATATTCAAAAGAGAAAAAAATAAAAMCAATTGTTGATATATTGAGTCCCCTTGATKTGAATAGCTCAACA
TAAGTATCTTATTCAGGATGGGACAGGGCCCTCCCCACAGACACGTGACAACAGATCAAACATGCATTTCCTGTTTCCTGTTTGGTTTGATCTGTCTGCC
TCTCAGGTGACTTATAATTTTTTTCATCAAGAGACCAGTTTTAGAATAAAAAATAACTTGAGAAGATTCAAGTAAAGGACCCAAAAGCTTTAAGAGAATG
AAAAGCTTCCTTGATATCTCTGGGCCCTTTCGCTCTAGTCCTTCCATCACAGCTATTCCTCCTCGTCGTCGTCCTCATCCTCATCATTGTCCTCCGCCTC
GTCGTCGTCCTCATCATCGTCATCCTCATCATTGTCATCCTCATCATTGTCCTCCTCATCATCGTCATCCTCAT

Protein Sequence    (SEQ ID NO:1007):
MLRRATEDVRHYFPELLDFNATWVFVATWYRVTFFGGSSSSPVNTFQTVLITDGKLSFTIFNYESIVWTTGTHASSGGNATGLGGIAAQAGFNAGDGQRY
FSIPGSRTADMAEVETTTNVGVPGRWAFRIDDAQVRVGGCGHTTSVCLALRPCLNGGKCIDDCVTGNPSYTCSCLSGFTGRRCHLDVNECASQPCQNGGT
CTHGINSFRCQCPAGFGGPTCETAQSPCDTKECQHGGQCQVENGSAVCVCQAGYTGAACEMDVDDCSPDPCLNGGSCVDLVGNYTCLCAEPFKGLRCETV
PDACLSAPCHNGGTCVDADQGYVCECPEGFMGLDCRERKPDSCASGPCHNGGTCFHYIGKYKCDCPPGFSGRHCEIAPSPCFRSPCVNGGTCEDRDTDFF
CHCQAGYMGRRCQAEIDECRSQPCLHGGSCQDRVAGYLCLCSTGYEGAHCELERDECRAHPCRNGGSCRNLPGAYVCRCPAGFVGVHCETEVDACDSSPC
QHGGRCESGGGAYLCVCPESFFGYHCETVSDPCFSSPCGGRGYCLASNGSHSCTCKVGYTGEDCAKELFPPTALKMERVEESGVSISWNPPNGPAARQML
DGYAVTYVSSDGSYRRTDFVDRTRSSHQLQALAAGRAYNISVFSVKRNSNNKNDISRPAVLLARTRPRPVEGFEVTNVTASTISVQWALHRIRHATVSGV
RVSIRHPEALRDQATDVDRSVDRFTFRALLPGKRYTIQLTTLSGLRGEEHPTESLATAPTHVWTRPLPPANLTAARVTATSAHVVWDAPTPGSLLEAYVI
NVTTSQSTKSRYVPNGKLASYTVRDLLPGRRYQLSVIAVQSTELGPQHSEPAHLYIITSPRDGADRRWHQGGHHPRVLKNRPPPARLPELRLLNDHSAPE
TPTQPPRFSELVDGRGRVSARFGGSPSKAATVRSHVPGNCSENPCQNGGTCVPGADAHSCDCGPGFKGRRCELACIKVSRPCTRLFSETKAFPVWEGGVC
HHVYKRVYRVHQDICFKESCESTSLKKTPNRKQSKSQTLEKS


SNP Information

Context             (SEQ ID NO:5843):
TGGGCTGCCAGGTACAAGTAAGGGAATCTTTGCTGTGCCCACTGTCCTCCAGTAGAGAACCCAACAGGCAAGGGCCCCACTCAGGTATCAGCTCACCTCC
Y
GCACCTCCCCTTAGCAGGAACTCCTTCCACTGGCAAAGGACTGCCACTGCCATCTGACTCAACTGTGGCGATGTGGACGGAGTCACCGAGCTGCTTTTCT
Celera SNP ID:            hCV25954225
SNP Position Transcript:  5936
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,19)   caucasian(T,2)   total(C,9|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None



Context             (SEQ ID NO:5844):
TTGTGGACCAGGCCTTAGATGAGTTTCTCAGGCTCAGCACTGACATTCTGGGCCGGATCATCCTCTCTTGTGGGACCATCCTGTGCACTGCAGGATGTTT
Y
ACAGCACCCCTGGCCTCTACCCACTAGAATCCTACAATCTACCAGATCCTAGGATCTAGTTGATCCTAGAATGCTACCAAGGAGACTTGAATTTTGGTCC
Celera SNP ID:            hCV29041222
SNP Position Transcript:  6389
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5845):
TCTCTATCTCCTGGAACCCGCCCAATGGTCCAGCCGCCAGGCAGATGCTTGATGGCTACGCGGTCACCTACGTCTCCTCCGACGGCTCCTACCGCCGCAC
R
GACTTTGTGGACAGGACCCGCTCCTCGCACCAGCTCCAGGCCCTGGCGGCCGGCAGGGCCTACAACATCTCCGTCTTCTCAGTGAAGCGAAACAGTAACA
Celera SNP ID:            hCV16179344
SNP Position Transcript:  2013
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1007, 617, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5846):
ACATCTGCTTCCCACCATGCTTCTAAGCAGCTGTCTTCCCCCTGCTAATGTTACAACCAAAGCAGCCACCCCACCTCCTCTCGTGTTGAGCCTCACGACC
R
CTGACCCAGCTGGAAAGCCAGCGCCCTGCCGCGTCACCCTGACTCTGCTCAGAGCCAGCATTCCAGCCACAAAGAGGGCCTCCTTCCTTTCCTCTTTCAT
Celera SNP ID:            hCV2780354
SNP Position Transcript:  4558
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,3)   total(G,1|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5847):
GAAGAATGAACCCCATCTTCCAACTGTCACGGAATTATCACCAACATATTCAAAAGAGAAAAAAATAAAACCAATTGTTGATATATTGAGTCCCCTTGAT
K
TGAATAGCTCAACATAAGTATCTTATTCAGGATGGGACAGGGCCCTCCCCACAGACACGTGACAACAGATCAAACATGCATTTCCTGTTTCCTGTTTGGT
Celera SNP ID:            hCV11526854
SNP Position Transcript:  7386
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,2)      total(G,2|T,2) ;JBIC-allele(G,637|T,852)   total(G,637|T,852)   no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5848):
AGAAGGAAATACATAGTGATTCCTGAACCGGAAGAATGAACCCCATCTTCCAACTGTCACGGAATTATCACCAACATATTCAAAAGAGAAAAAAATAAAA
M
CAATTGTTGATATATTGAGTCCCCTTGATGTGAATAGCTCAACATAAGTATCTTATTCAGGATGGGACAGGGCCCTCCCCACAGACACGTGACAACAGAT
Celera SNP ID:            hCV2780355
SNP Position Transcript:  7356
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,3)   total(A,1|C,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5849):
GCCAGTGCCCGGCTGGCTTTGGGGGACCCACCTGTGAGACAGCCCAATCCCCCTGTGACACCAAAGAGTGTCAACATGGTGGCCAGTGCCAGGTGGAGAA
Y
GGCTCTGCGGTGTGTGTGTGCCAGGCCGGATACACCGGAGCAGCCTGCGAGATGGATGTGGACGACTGCAGCCCTGACCCCTGCCTGAATGGAGGCTCTT
Celera SNP ID:            hCV29041181
SNP Position Transcript:  891
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1007, 243, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:5850):
CCCAGCTGGAAAGCCAGCGCCCTGCCGCGTCACCCTGACTCTGCTCAGAGCCAGCATTCCAGCCACAAAGAGGGCCTCCTTCCTTTCCTCTTTCATAAAA
R
TGTTTTTTGAAGAGTTAGAGTATATTTTAGGCTTTTTATCTTTATTAAAATTTCATGTGCATGTGTCTGTGTATTCTGCAATTTGTCATTTTCAGAAAGA
Celera SNP ID:            hCV25642185
SNP Position Transcript:  4663
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,4)   caucasian(A,40)   total(A,74|G,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5851):
TCTGCCACTGCCAAGCAGGGTACATGGGACGCCGGTGCCAGGCAGAAATCGATGAGTGCCGGTCTCAGCCGTGCCTGCATGGGGGCTCTTGTCAGGACCG
Y
GTTGCTGGGTACCTGTGCCTCTGCAGCACAGGCTATGAGGGCGCCCACTGTGAGCTGGAGAGGGATGAGTGCCGAGCTCACCCGTGCAGAAATGGAGGGT
Celera SNP ID:            hCV27509169
SNP Position Transcript:  1461
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1007, 433, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:5852):
CCTTCTTTGGAGGCAGTTCCTCATCCCCTGTCAACACATTCCAGACTGTGCTCATCACAGACGGCAAGCTCTCCTTCACCATCTTCAACTATGAGTCCAT
Y
GTGTGGACCACAGGCACACACGCCAGCAGCGGGGGCAACGCCACTGGCCTCGGGGGCATCGCAGCCCAGGCTGGCTTCAACGCAGGCGATGGGCAGCGTT
Celera SNP ID:            hCV25963009
SNP Position Transcript:  360
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,40)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1007, 66, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:5853):
AGAGTATATTTTAGGCTTTTTATCTTTATTAAAATTTCATGTGCATGTGTCTGTGTATTCTGCAATTTGTCATTTTCAGAAAGAAGGAACAGGCAATTCG
M
GAAGTTTCACCTGTACTCCCGAGCTGTTCCCCAGGCTCCAGACCCACTTGAGAGCAGAAGGTGGAGCTCAATGAAGGGTCTCGAGCTCAGCGAAGGGTCA
Celera SNP ID:            hCV25642195
SNP Position Transcript:  4780
SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,17)   caucasian(A,23|C,17)   total(A,44|C,34)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,294|A,587)   total(A,587|C,294) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5854):
CCCCACTCAGGTATCAGCTCACCTCCTGCACCTCCCCTTAGCAGGAACTCCTTCCACTGGCAAAGGACTGCCACTGCCATCTGACTCAACTGTGGCGATG
W
GGACGGAGTCACCGAGCTGCTTTTCTTTTGCAAAACAAAAGTCTTTTTCTTTGCAGTCACGCTGTAAGACGAGGCTGCTGGAGAAAACAAAAGCACCTAG
Celera SNP ID:            hCV15757091
SNP Position Transcript:  6010
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,26)   caucasian(A,1|T,1)   total(A,5|T,27)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,141|T,1350)   total(A,141|T,1350) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5855):
ACGTTCACAAACGCGTACTGCGGACTTCCTGCCGCCCTGGGACCTGTCACTGTTTGTCCATGTAAGCTACAGCATTACTAGCAGATGCTAAGATCGAGTG
R
TATCACTGGAAAAGTAGGTGAATCCTACTAGGAAACTTTCTACTCCCTACTAGGACCTCAAGCCCCTCAGCCACACAGCAAATGCTAATATGCTCCAGTG
Celera SNP ID:            hCV27488618
SNP Position Transcript:  5002
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,145|A,1160)   total(G,145|A,1160) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None   



Context             (SEQ ID NO:5856):
GCAATTCGCGAAGTTTCACCTGTACTCCCGAGCTGTTCCCCAGGCTCCAGACCCACTTGAGAGCAGAAGGTGGAGCTCAATGAAGGGTCTCGAGCTCAGC
R
AAGGGTCACTGGGTGAACTGAGAGAAACCACGTTCACAAACGCGTACTGCGGACTTCCTGCCGCCCTGGGACCTGTCACTGTTTGTCCATGTAAGCTACA
Celera SNP ID:            hCV25642196
SNP Position Transcript:  4872
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None



Context             (SEQ ID NO:5857):
GAAAATGAAAACACTGGCACAGTGAAATGTCTCATTTCCAAACAGTTTTGCCTATGGCCAAGCAAGGCAATAAAGACAAACTCTCCCTTTTCCCCATTGC
R
TGTGGGCTGCCAGGTACAAGTAAGGGAATCTTTGCTGTGCCCACTGTCCTCCAGTAGAGAACCCAACAGGCAAGGGCCCCACTCAGGTATCAGCTCACCT
Celera SNP ID:            hCV25954634
SNP Position Transcript:  5833
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(G,2)   total(A,3|G,27)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1007, None



Context             (SEQ ID NO:5858):
CCTCAACGGCGGCAAGTGCATCGACGACTGCGTCACGGGCAACCCCTCCTACACCTGCTCCTGCCTCTCGGGCTTCACGGGGCGGAGGTGCCACCTGGAC
R
TGAACGAATGTGCCTCCCAGCCCTGTCAGAATGGTGGGACCTGTACTCACGGCATCAACAGTTTCCGCTGCCAGTGCCCGGCTGGCTTTGGGGGACCCAC
Celera SNP ID:            hCV2780308
SNP Position Transcript:  721
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,8)   total(G,8|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1007, 187, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:5859):
CCACAGCTGTGACTGCGGGCCAGGGTTCAAAGGCAGACGCTGCGAGCTCGCCTGTATAAAGGTGTCCCGCCCCTGCACAAGGCTGTTCTCCGAGACAAAG
K
CCTTTCCAGTCTGGGAGGGAGGCGTCTGTCACCACGTGTATAAAAGAGTCTACCGAGTTCACCAAGACATCTGCTTCAAAGAGAGCTGTGAAAGCACAAG
Celera SNP ID:            hCV15757092
SNP Position Transcript:  3133
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   JBIC-allele(G,396|T,505)   total(G,396|T,505)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1007, 991, (A,GCC)   (S,TCC)      



Gene Number:                 112
Celera Gene:                 hCG2016840 - 84000314227577
Celera Transcript:           hCT2309967 - 84000314227578
Public Transcript Accession: 
Celera Protein:              hCP1902345 - 197000069465609
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VYAU(23591477..23593786)
Chromosome:                  Chr11
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:311):
GGGGTTCGAGACCAGCTTGGCCAACATGGCAAAACCTCCTCTCTACTAAAAATCCAAAGTATTAGCTGGGCGTGGTGGCATATGCTTGTAGTCCCAGCTA
CTCAGGAGGCTGAGGCACGAGAATCGCTTGAACCTGGGAGGCCAAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAG
ACTCTGTTTCAAAAAATAAAAAATAAAAAAAAGGAAGCAGAGTGGGAGACAAGAATATATGAGGTCTGTGGGCCCCTTCAAGCCTTCACGATCCTTTGGC
ATCCACTAATAATTTTTGATAAATCTAGAGTATAAAATATTCTTGGTGACTGGGTCCACTTGGCTTTCTGGACGCCTGACCAACACTGTGGGTGGCATAG
TCCATAGACTGTAGGTTTGGTTCAGGACCTGCCCTCCACCTCAAGTCCAGACTCACCACTGGCAGGTCAGCATCTCAGGCCCTGGATCAGAACAAGGAGC
ATATTAGGAGTCCTGGCTCTGGAAGGTGAGGTCTGGGGCCAGTTGTGTTTCCCCAGTCCAGGTTTCTAAGTACCTGGGGCTCACTCCAGGCACCTAGGGG
ACCACCAAGCTGCAGTCAGAGCTTCTACAGAGTTGTGTGATACAGCAATCCCAGCCTTCCTCTAACTCTTGCTCTATCTGCCGTGACATACAACTAAGCT
GCTTCTGCCTTGGTTACCTGATTTCACTGTCTTTTCAGTGGGCCTGAAGCCAGGCCCTGGTCTTCTTGCCTGACACCTTGGAGAACTGCGGTTAGCATCT
TCCAGAGGGCAGCCTGGGATCCTGCACTCAAGCCATAATTCTGCCACTTAGCCTGACTGCCGGCCTGAGGACCCTTGGGTTAACCCACACTCACCAGGAA
AGAGCCRACTCCATCACTCATGGATTCAGCAGACCGGCCTGCACTCTCTCCACCACGCTGTGGGTACTCGTAGGTCTCACAGGAAGAAGCTGACAGAGGA
AGGAGGATTCATAAGTACTCATGGTTGATTCATGTGTTGACACTTACCCATACCCTCACCAGTGTGGTTCAAGGTCTTACTGATACTCCAGAAGATACTA
CTCTCAACCCCAAATGATAAGGAATTTCTTCGAACACATCACTCCTCAGTTCAAAAATTCCTCCTGGGCTTCTAGATGTAGCTCCAGTGTTAGCATCTGC
AGAGAAGCTGTCCTTGACTACTCTACCCTCATMTATGCACCTCTCCTTTGACTCCTACACCACTCACSTGTCSTGCTCACCCCAGCCATCACTTCTSTGA
ACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCTRAAGGGCAGGMACATGTTTTATGTATGTCT
TTATCATCWCAGTTCCAAAACGGAGTATGACTGCTCAAATTGTCGATGGATTGAAAGACGGCAAAGAGGTCTAAACTAGGAGCTGGGACTMTAGGGTCTG
AGTCTCATCTCTGGCACAATGACTCTGCAACTCTATTTAAGTCTCTTAACTGTCATTGGCCTCATGTGAGATGGAGACAAGGAGGTTTTGTCCCACCAAC
CTCTCTGCCTGGCTTAAACAACAGGATGGACAAGAAAAGGCTTTGCAAACCATAAAGCAAGATGCAAAATGAAAGGAATTAATATTGTTCTATTTTTTCA
TCATACAGAGGAGGTTACATGCAGAGTTGGAATACTCTCAGTGGAAAACAAGTAACAATAGAATTTAGGTACTTCAAATAAAAGTTTTGACTTCAACCAA
AGAGATTCAAGTATGATTTAGAAAATATTAAGACCTCGTTTTGCTTTAGCAGTCTGTTAGTCCACACAGGTTTCACTCCAGTTTGGACTGATCTTCTGAA
TTTATTTTTTAAATCTTTGATTTGATTTACAAATGAATAAAATAMAATGATTTGGGCTTCTAAACCC

Protein Sequence    (SEQ ID NO:1008):
MIRNFFEHITPQFKNSSWASRCSSSVSICREAVLDYSTLIYAPLL


SNP Information

Context             (SEQ ID NO:5860):
TAGATGTAGCTCCAGTGTTAGCATCTGCAGAGAAGCTGTCCTTGACTACTCTACCCTCATCTATGCACCTCTCCTTTGACTCCTACACCACTCACCTGTC
S
TGCTCACCCCAGCCATCACTTCTCTGAACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCTGAA
Celera SNP ID:            hCV26530864
SNP Position Transcript:  1273
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5861):
GTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCTGAAGGGCAGGAACATGTTTTATGTATGTCTTTATCATC
W
CAGTTCCAAAACGGAGTATGACTGCTCAAATTGTCGATGGATTGAAAGACGGCAAAGAGGTCTAAACTAGGAGCTGGGACTCTAGGGTCTGAGTCTCATC
Celera SNP ID:            hCV966436
SNP Position Transcript:  1409
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5862):
CTGCAGAGAAGCTGTCCTTGACTACTCTACCCTCATCTATGCACCTCTCCTTTGACTCCTACACCACTCACCTGTCCTGCTCACCCCAGCCATCACTTCT
S
TGAACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCTGAAGGGCAGGAACATGTTTTATGTATG
Celera SNP ID:            hCV26530865
SNP Position Transcript:  1297
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5863):
CCCAGCCATCACTTCTCTGAACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCTGAAGGGCAGG
M
ACATGTTTTATGTATGTCTTTATCATCTCAGTTCCAAAACGGAGTATGACTGCTCAAATTGTCGATGGATTGAAAGACGGCAAAGAGGTCTAAACTAGGA
Celera SNP ID:            hCV966437
SNP Position Transcript:  1381
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5864):
TCCTGCTCACCCCAGCCATCACTTCTCTGAACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCTCT
R
AAGGGCAGGAACATGTTTTATGTATGTCTTTATCATCTCAGTTCCAAAACGGAGTATGACTGCTCAAATTGTCGATGGATTGAAAGACGGCAAAGAGGTC
Celera SNP ID:            hCV966438
SNP Position Transcript:  1371
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5865):
AACACATCACTCCTCAGTTCAAAAATTCCTCCTGGGCTTCTAGATGTAGCTCCAGTGTTAGCATCTGCAGAGAAGCTGTCCTTGACTACTCTACCCTCAT
M
TATGCACCTCTCCTTTGACTCCTACACCACTCACCTGTCCTGCTCACCCCAGCCATCACTTCTCTGAACACCACAGTAACAATACTTGTCCTGATTTATA
Celera SNP ID:            hCV966439
SNP Position Transcript:  1233
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1008, 40, (I,ATA)   (I,ATC)      



Context             (SEQ ID NO:5866):
TTTAGCAGTCTGTTAGTCCACACAGGTTTCACTCCAGTTTGGACTGATCTTCTGAATTTATTTTTTAAATCTTTGATTTGATTTACAAATGAATAAAATA
M
AATGATTTGGGCTTCTAAACCC
Celera SNP ID:            hCV29155690
SNP Position Transcript:  1945
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5867):
GGGCAGCCTGGGATCCTGCACTCAAGCCATAATTCTGCCACTTAGCCTGACTGCCGGCCTGAGGACCCTTGGGTTAACCCACACTCACCAGGAAAGAGCC
R
ACTCCATCACTCATGGATTCAGCAGACCGGCCTGCACTCTCTCCACCACGCTGTGGGTACTCGTAGGTCTCACAGGAAGAAGCTGACAGAGGAAGGAGGA
Celera SNP ID:            hCV26530861
SNP Position Transcript:  907
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)   JBIC-allele(G,691|A,800)   total(G,691|A,800)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5868):
GCTTCTAGATGTAGCTCCAGTGTTAGCATCTGCAGAGAAGCTGTCCTTGACTACTCTACCCTCATCTATGCACCTCTCCTTTGACTCCTACACCACTCAC
S
TGTCCTGCTCACCCCAGCCATCACTTCTCTGAACACCACAGTAACAATACTTGTCCTGATTTATATGTGTTGGTTTTATTTTCCCAATGAGATGTAAGCT
Celera SNP ID:            hCV26530863
SNP Position Transcript:  1268
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Context             (SEQ ID NO:5869):
ATGTATGTCTTTATCATCTCAGTTCCAAAACGGAGTATGACTGCTCAAATTGTCGATGGATTGAAAGACGGCAAAGAGGTCTAAACTAGGAGCTGGGACT
M
TAGGGTCTGAGTCTCATCTCTGGCACAATGACTCTGCAACTCTATTTAAGTCTCTTAACTGTCATTGGCCTCATGTGAGATGGAGACAAGGAGGTTTTGT
Celera SNP ID:            hCV966435
SNP Position Transcript:  1491
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1008, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT11274 - 64000127155829
Public Transcript Accession: NM_003217
Celera Protein:              hCP37939 - 197000064938648
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12477138..12500562)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:312):
GCGAACGCCGGGTAAAAGATCGGGAGCGGAAGTGGGCGAGTCAGAGCACATCCGGTGTTAGAAGCGCTGGTAGGCCTTGGAGAGGCGGGTTAGGAAGAGT
GGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGC
AGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCT
GCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTT
GCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGATCT
TTACCTGYTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTC
CCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTC
ATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGATCC
TGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTT
TGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAAAAC
TGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGTAGCCTCTTCCTCTACTCAGG
CAGTCGACCCRCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGT
TTGGTAGAGCCACCCGGCCCTTCCTTCCTCATYGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGT
GGTCCCATKGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCA
TGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTTCCA
TCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGGGTT
CCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATAGGG
AAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGGCAG
CAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTTCA
GTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAGTTT
TTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTTCAA
GTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCTY
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
CAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGACATG
CCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTCCTG
TTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTT
TGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAAAAAAACACCTACTTTTAAAG
AAAATRCCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGAC
AAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCTTAATTTGTAAAAAATAAAGAAAATTCCTTAACCTTTCCTG

Protein Sequence    (SEQ ID NO:1009):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5870):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  789
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1009, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5871):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1233
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Context             (SEQ ID NO:5872):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2200
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Context             (SEQ ID NO:5873):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  508
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1009, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5874):
GGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAAT
R
CCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGT
Celera SNP ID:            hCV7469240
SNP Position Transcript:  2706
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Context             (SEQ ID NO:5875):
TCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  1070
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None



Context             (SEQ ID NO:5876):
GGAAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  193
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1009, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1009, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5877):
AATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1111
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None



Context             (SEQ ID NO:5878):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  490
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1009, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1009, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5879):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1309
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Context             (SEQ ID NO:5880):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2671
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Context             (SEQ ID NO:5881):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGC
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1009, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT1962222 - 64000127155815
Public Transcript Accession: NM_003217
Celera Protein:              hCP1777829 - 197000064938647
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12474635..12500562)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:313):
GTACAGTAAGGACTTCAACTGACCTTCCTCAGACTGAGGACTGTTCCCAGTGTATACATCAAGTCACTGAGAGTGGAGACTGCTGCACGGACTCTGGAAC
CATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGCAGCACCTGAAGAAGGTCTATGCAAGT
TTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATAT
TGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGG
CCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGATCTTTACCTGYTTCACCCTCAGTGCACTC
TATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCA
TTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGA
TCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAG
AAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCT
GTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTT
TGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCRCCACGATGAGAAGTG
GGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTT
CCTCATYGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATKGTTAACTCAGCCTCAAA
TCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTTCT
GCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAAGACTTCAGCACA
AAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCTGTTTTTGTTT
TTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATAGGGAAGGGGAATGGTTGAGCCTCTGGAGA
TCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGGCAGCAGGGAGCAAAATCTCCTTTAACAAC
CAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTTCAGTGCATTTTAGTCTGTCTCCAACTGG
ACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAA
TTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGA
TCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCTYTGAGCTGCTCTACAGAGCTTCAGTGT
GAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCACAGTTTGACACAGTGGCCTCAGGTTC
ACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGACATGCCACCCCGAATGGCTCACTTTCACTG
AGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTCCTGTTAAACCCCTGTTAACTCTCCATAAA
TTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTT
AGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATRCCTAACAGATTTTTAATATA
GTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATATA
TGAAATCTGCATAGTCTTAATTTGTAAAAAATAAAGAAAATTCCTTAACCTTTCCTG

Protein Sequence    (SEQ ID NO:1010):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5882):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  763
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1010, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5883):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1207
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Context             (SEQ ID NO:5884):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2174
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Context             (SEQ ID NO:5885):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  482
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1010, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5886):
GGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAAT
R
CCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGT
Celera SNP ID:            hCV7469240
SNP Position Transcript:  2680
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Context             (SEQ ID NO:5887):
TCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  1044
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None



Context             (SEQ ID NO:5888):
CTGAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  167
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1010, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1010, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5889):
AATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1085
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None



Context             (SEQ ID NO:5890):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  464
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1010, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1010, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5891):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1283
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Context             (SEQ ID NO:5892):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2645
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Context             (SEQ ID NO:5893):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGC
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2642
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1010, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT2281661 - 64000127155882
Public Transcript Accession: NM_003217
Celera Protein:              hCP1806011 - 197000064938652
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12477198..12500531)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:314):
GAAGCGCTGGTAGGCCTTGGAGAGGCGGGTTAGGAAGAGACAGGGTTTCGCCGTGTTGGCCAGACTGGTCTCGAACTCCTGACGTCAAAGTGATCCACCT
GCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCCAACCTAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATC
GAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTT
TGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATG
GCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTT
GTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGATCTTTACCTGYTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAG
CTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCA
AACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGC
ACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAG
TGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAAGCAT
CAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGTAGCCTCTTCCTCTACTC
AGGCAGTCGACCCRCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAAC
TGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATYGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTC
AGTGGTCCCATKGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGC
CCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTT
CCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCACGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATA
GGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGG
CAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCT
TCAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAG
TTTTTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTT
CAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGG
CTYTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGT
GCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGAC
ATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTC
CTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCT
TTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAAAAAAACACCTACTTTTA
AATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCTTAATTTG
TA

Protein Sequence    (SEQ ID NO:1011):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5894):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  846
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1011, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5895):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1236
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None   



Context             (SEQ ID NO:5896):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2103
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None   



Context             (SEQ ID NO:5897):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  565
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1011, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5898):
TGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  1073
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None



Context             (SEQ ID NO:5899):
AACCTAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  250
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1011, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1011, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5900):
GTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1114
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None



Context             (SEQ ID NO:5901):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  547
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1011, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1011, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5902):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1312
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None   



Context             (SEQ ID NO:5903):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None   



Context             (SEQ ID NO:5904):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAA
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2571
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1011, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT2281655 - 64000127155874
Public Transcript Accession: NM_003217
Celera Protein:              hCP1806010 - 197000064938651
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12474635..12497403)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:315):
GTACAGTAAGGACTTCAACTGACCTTCCTCAGACTGAGGACTGTTCCCAGTGTATACATCAAGTCACTGAGAGTGGAGACTGCTGCACGGACTCTGGAAC
CATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGCAGCACCTGAAGAAGGTCTATGCAAGT
TTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATAT
TGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGATTTCATTACTGT
CTTCAGAAAACYCATGATGATCCTGGCCATGAATGAAAAG

Protein Sequence    (SEQ ID NO:1012):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTDFITV
FRKLMMILAMNEK


SNP Information

Context             (SEQ ID NO:5905):
CTGAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  167
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1012, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1012, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5906):
CTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAG
Celera SNP ID:            hCV7469257
SNP Position Transcript:  412
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1012, 104, (P,CCC)   (L,CTC)      



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT2281659 - 64000127155858
Public Transcript Accession: NM_003217
Celera Protein:              hCP1806009 - 197000064938650
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12474635..12500531)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:316):
GTACAGTAAGGACTTCAACTGACCTTCCTCAGACTGAGGACTGTTCCCAGTGTATACATCAAGTCACTGAGAGTGGAGACTGCTGCACGGACTCTGGAAC
CATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGCAGCACCTGAAGAAGGTCTATGCAAGT
TTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATAT
TGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGG
CCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGATCTTTACCTGYTTCACCCTCAGTGCACTC
TATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCA
TTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGA
TCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAG
AAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCT
GTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGT
AGCCTCTTCCTCTACTCAGGCAGTCGACCCRCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTC
ACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATYGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTT
CCATTGGAAAGAAGTTCAGTGGTCCCATKGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTT
TGCTCCCTCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTC
AGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCA
AGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAA
TGTCCCAAGCAAGGATAGGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGA
TAAGGACCTGTTTGGGGCAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCA
GCAATCCTAATAGTCCTTCAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATT
TTACTGATGCACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCC
CTGCAGTTTTGTGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAAT
GTTGGGAGTGGTTGTGGCTYTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCT
CCCTATTCACAACCAGTGCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTG
TTTATTCCTGGAGTGACATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTA
CTAAAGGCACTTCCTTCCTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAA
ACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAA
AAAAACACCTACTTTTAAATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATATATGAAATC
TGCATAGTCTTAATTTGTA

Protein Sequence    (SEQ ID NO:1013):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5907):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  763
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1013, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5908):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1153
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None   



Context             (SEQ ID NO:5909):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2120
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None   



Context             (SEQ ID NO:5910):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  482
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1013, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5911):
TGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  990
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None



Context             (SEQ ID NO:5912):
CTGAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  167
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1013, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1013, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5913):
GTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1031
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None



Context             (SEQ ID NO:5914):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  464
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1013, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1013, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5915):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1229
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None   



Context             (SEQ ID NO:5916):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2591
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None   



Context             (SEQ ID NO:5917):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAATTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAA
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2588
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1013, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT1967218 - 64000127155802
Public Transcript Accession: NM_003217
Celera Protein:              hCP1781360 - 197000064938646
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12488086..12500562)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:317):
AGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGC
AGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGG
CCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGA
TTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGA
TCTTTACCTGYTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTC
TTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAA
CTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGA
TCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCT
TTTTGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAA
AACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGTAGCCTCTTCCTCTACTC
AGGCAGTCGACCCRCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAAC
TGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATYGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTC
AGTGGTCCCATKGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGC
CCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTT
CCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGG
GTTCCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATA
GGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGG
CAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCT
TCAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAG
TTTTTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTT
CAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGG
CTYTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGT
GCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGAC
ATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTC
CTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCT
TTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAAAAAAACACCTACTTTTA
AAGAAAATRCCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAA
GACAAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCTTAATTTGTAAAAAATAAAGAAAATTCCTTAACCTTTCCTG

Protein Sequence    (SEQ ID NO:1014):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5918):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  692
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1014, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5919):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1136
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Context             (SEQ ID NO:5920):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2103
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Context             (SEQ ID NO:5921):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  411
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1014, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5922):
GGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAAT
R
CCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGT
Celera SNP ID:            hCV7469240
SNP Position Transcript:  2609
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Context             (SEQ ID NO:5923):
TCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  973
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None



Context             (SEQ ID NO:5924):
AGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  96
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1014, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1014, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5925):
AATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1014
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None



Context             (SEQ ID NO:5926):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  393
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1014, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1014, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5927):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1212
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Context             (SEQ ID NO:5928):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2574
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Context             (SEQ ID NO:5929):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGC
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2571
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1014, None   



Gene Number:                 113
Celera Gene:                 hCG20199 - 64000127155801
Celera Transcript:           hCT1967217 - 64000127155843
Public Transcript Accession: NM_003217
Celera Protein:              hCP1781348 - 197000064938649
Public Protein Accession:    NP_003208
Gene Symbol:                 TEGT
Protein Name:                testis enhanced gene transcript (BAX inhibitor 1);BI-1
Celera Genomic Axis:         GA_x5YUV32VTSP(12477198..12500562)
Chromosome:                  Chr12
OMIM number:                 600748
OMIM Information:            TESTIS ENHANCED GENE TRANSCRIPT;TEGT


Transcript Sequence (SEQ ID NO:318):
GAAGCGCTGGTAGGCCTTGGAGAGGCGGGTTAGGAAGAGACAGGGTTTCGCCGTGTTGGCCAGACTGGTCTCGAACTCCTGACGTCAAAGTGATCCACCT
GCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCCAACCTAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATC
GAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCRACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTT
TGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATG
GCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTT
GTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACRGCAATGATCTTTACCTGYTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAG
CTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCA
AACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGC
ACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACYCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAG
TGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAAGCAT
CAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGG
GGTTCCCCTCACTCCCTTTTTTGTCARCCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCRCCACGATGAGAAGTGGGACCAGCAGAGGGCGC
CAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATYGTTGTTTGGT
ATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATKGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCC
TACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAA
GTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCT
TGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCC
CTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATAGGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCT
GCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGGCAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTC
ACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTTCAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGT
CAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGC
GGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTG
TGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCTYTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATT
GAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCAC
TGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGACATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGA
TTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTCCTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCT
AGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAA
TGACAAGATATTAAAAAAAAAAAARAARGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATRCCTAACAGATTTTTAATATAGTTATCTCTACCACTTT
CTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCT
TAATTTGTAAAAAATAAAGAAAATTCCTTAACCTTTCCTG

Protein Sequence    (SEQ ID NO:1015):
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLG
PALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGD
QDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK


SNP Information

Context             (SEQ ID NO:5930):
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAAC
Y
CATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCT
Celera SNP ID:            hCV7469257
SNP Position Transcript:  846
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1015, 221, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:5931):
GCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
Y
GTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAAC
Celera SNP ID:            hCV7469249
SNP Position Transcript:  1290
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Context             (SEQ ID NO:5932):
AGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCT
Y
TGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCA
Celera SNP ID:            hCV29248146
SNP Position Transcript:  2257
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Context             (SEQ ID NO:5933):
TTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTG
Y
TTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGA
Celera SNP ID:            hCV11478839
SNP Position Transcript:  565
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1015, 127, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:5934):
GGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAAT
R
CCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGT
Celera SNP ID:            hCV7469240
SNP Position Transcript:  2763
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Context             (SEQ ID NO:5935):
TCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCA
R
CCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCA
Celera SNP ID:            hCV25597278
SNP Position Transcript:  1127
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,36)   total(A,61|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,8)   total(A,37|G,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None



Context             (SEQ ID NO:5936):
AACCTAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTC
R
ACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGG
Celera SNP ID:            hCV25597287
SNP Position Transcript:  250
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,36)   total(A,68|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1015, 22, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,2)   caucasian(A,38)   total(A,54|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1015, 22, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:5937):
AATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCC
R
CCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCC
Celera SNP ID:            hCV25982000
SNP Position Transcript:  1168
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,32)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None



Context             (SEQ ID NO:5938):
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCAC
R
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGC
Celera SNP ID:            hCV7469808
SNP Position Transcript:  547
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(G,26)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1015, 121, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1015, 121, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:5939):
GCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCAT
K
GTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCT
Celera SNP ID:            hCV27500391
SNP Position Transcript:  1366
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|T,1480)   total(G,13|T,1480) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Context             (SEQ ID NO:5940):
TTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAA
R
GAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCA
Celera SNP ID:            hCV7469247
SNP Position Transcript:  2728
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Context             (SEQ ID NO:5941):
CTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
R
AAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGC
Celera SNP ID:            hCV7469248
SNP Position Transcript:  2725
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1015, None   



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2345012 - 209000072114877
Public Transcript Accession: NM_001063
Celera Protein:              hCP1910298 - 209000072114845
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61845753..61867639)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:319):
AGGTGATCAGTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGC
CCAGGCCGGKAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGARGATGAGGC
TCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCATGAGGCCAC
TAAGTGCCAGAGTTTCCGCGACCATATGAAAAGCGTCATTCCATCCGGAATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTG
TGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTGSAGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGA
AGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGGATGGAGGGTTTGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTG
GCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCTRTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGG
ACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCSCTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAG
ATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTSTGTGAACCC
AA

Protein Sequence    (SEQ ID NO:1016):
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSGIYGKAHAQKPQQMNASL


SNP Information

Context             (SEQ ID NO:5942):
GTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGCCCAGGCCGG
K
AATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGAGGATGAGGCTCGCCGTGGG
Celera SNP ID:            hCV126231
SNP Position Transcript:  110
SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,2)   caucasian(G,16|T,2)   total(G,34|T,4)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None

SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,3)   caucasian(G,20)   total(G,29|T,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5943):
ATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTG
S
AGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGG
Celera SNP ID:            hCV7504245
SNP Position Transcript:  450
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5944):
AGGGTATTTTGCTGTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACC
S
CTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGA
Celera SNP ID:            hCV27536034
SNP Position Transcript:  748
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5945):
ACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCT
S
TGTGAACCCAA
Celera SNP ID:            hCV148061
SNP Position Transcript:  891
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|G,8)      total(G,8|C,4) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   JBIC-allele(G,56|C,669)   total(G,56|C,669)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5946):
ATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGG
C
CTAAACCTGTGTGAACCCAA
Celera SNP ID:            hCV26218257
SNP Position Transcript:  882
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|C,11)   total(C,11|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5947):
CCAGCCCGCCCAGGCCGGGAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGA
R
GATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCAT
Celera SNP ID:            hCV25647443
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,9|G,3)   total(A,15|G,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,8|G,8)   total(A,21|G,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1016, None   



Context             (SEQ ID NO:5948):
TGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCT
R
TAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCGCTGGCTGGAACAT
Celera SNP ID:            hCV26218254
SNP Position Transcript:  661
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1016, None   



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2320698 - 209000072114887
Public Transcript Accession: NM_001063
Celera Protein:              hCP1785816 - 209000072114839
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61834876..61867639)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:320):
AGGTGATCAGTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGC
CCAGGCCGGKAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGARGATGAGGC
TCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCATGAGGCCAC
TAAGTGCCAGAAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCA
ACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAAMCCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAG
AAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGTTGGTAACCTGAGAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGT
AGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGATKATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTG
CTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAAAATTATTATTGATTTTATATTTCAAAAACTCCATTCTTTCCTA
AATATTTTCAACAAAGGATTTCTTTATGCATTCTGCCTAAATACCTATGCAACTGAGCCCTTCCTTCTCAGCTCAAGATTCGTCTGGTCTTTCCCTACAG
CTTTGTGTGTGCCATGGCCACATCTCCTGGGTACAGTTCAAGGAGACATCTTTTCTAAAAGGGTCTGCGTGATCATTAAAATATAATCAAATGT

Protein Sequence    (SEQ ID NO:1017):
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQKPRITLWSHGKIRKLASTRYYVNSSTYLEAT


SNP Information

Context             (SEQ ID NO:5949):
GTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGCCCAGGCCGG
K
AATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGAGGATGAGGCTCGCCGTGGG
Celera SNP ID:            hCV126231
SNP Position Transcript:  110
SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,2)   caucasian(G,16|T,2)   total(G,34|T,4)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None

SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,3)   caucasian(G,20)   total(G,29|T,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None   



Context             (SEQ ID NO:5950):
TAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAA
M
CCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGT
Celera SNP ID:            hCV7505276
SNP Position Transcript:  445
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1017, None   



Context             (SEQ ID NO:5951):
GAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGAT
K
ATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAA
Celera SNP ID:            hCV12061636
SNP Position Transcript:  657
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1017, None   



Context             (SEQ ID NO:5952):
CCAGCCCGCCCAGGCCGGGAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGA
R
GATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCAT
Celera SNP ID:            hCV25647443
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,9|G,3)   total(A,15|G,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,8|G,8)   total(A,21|G,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1017, None   



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2320697 - 209000072114879
Public Transcript Accession: NM_001063
Celera Protein:              hCP1785814 - 209000072114847
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61834876..61867734)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:321):
TGACAATGGCTGCATTGTGCTTCATGTCCCTTCCCATCAACATTTCTGTGCTGGACTCCTTCCACTCGCGGGTCGTCTCCAGAGCTCAGAAAATGAGGTG
ATCAGTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGCCCAGG
CCGGKAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGARGATGAGGCTCGCC
GTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCATGAGGCCACTAAGT
GCCAGAGTTTCCGCGACCATATGAAAAGCGTCATTCCATCCGATGGTCCCAGTGTTGCTTGTGTGAAGAAAGCCTCCTACCTTGATTGCATCAGGGCCAT
TGCGGCAAACGAAGCGGATGCTGTGACACTGGATGCAGGTTTGGTGTATGATGCTTACCTGGCTCCCAATAACCTGAAGCCTGTGGTGGCAGAGTTCTAT
GGGTCAAAAGAGGATCCACAGACTTTCTATTATGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCC
ACACGGGTCTARGCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAACCTCTTGAGAAAGCAGTGGCCAA
TTTCTTCTCGGGCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCRGGGTGTGGCTGCTCCACCCTTAACCAATAC
TTCGGCTACTCRGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTG
ACAGGGACCAGTATGAGCTGCTTTGCYTRGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGT
GGCCCGAAGTATGGGCRGCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGRCAAATCAAAAGAATTCCAACTATTC
AGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACGGGTTTTTAAAAGTCCCCCCCAGGATGGATGCCAAGATGTACCTGGGCTATGAGT
ATGTCACTGCCATCCGGAATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAG
GCTCAAGTGTGATGAGTGSAGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAA
GCTGATGCCATGAGCTTGGATGGAGGGTTTGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTG
AGGATACACCAGAGGCAGGGTATTTTGCTRTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATAC
GGCAGTTGGCAGAACCSCTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCC
CCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTSTGTGAACCCAACAACAAAGAGGGATACTAYGGCTACACAG
GCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAA
GAATCTGAATGAAAAAGACTATGAGTTGCTGTGCCTTGATGGTACCAGGAAAYCTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCAC
GCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACT
TTTGTTTGTTCCGGTCGGAAMCCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGG
AGAAGAATATGTCAAGGCTGTTGGTAACCTGAGAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGG
GCTGCCACCAAGGTGAAGATGGGAACGCAGATKATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCT
CTGTGTTGCCATGTGTGCTGAACAAAAAATAAAAATTATTATTGATTTTATATTTCAAAAACTCCATTCTTTCCTAAATATTTTCAACAAAGGATTTCTT
TATGCATTCTGCCTAAATACCTATGCAACTGAGCCCTTCCTTCTCAGCTCAAGATTCGTCTGGTCTTTCCCTACAGCTTTGTGTGTGCCATGGCCACATC
TCCTGGGTACAGTTCAAGGAGACATCTTTTCTAAAAGGGTCTGCGTGATCATTAAAATATAATCAAATGT

Protein Sequence    (SEQ ID NO:1018):
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVV
AEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCST
LNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKE
FQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKI
MNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAVAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFS
EGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLAR
APNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP


SNP Information

Context             (SEQ ID NO:5953):
CACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCC
R
GGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTCGGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGA
Celera SNP ID:            hCV80378
SNP Position Transcript:  870
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 194, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5954):
ATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTG
S
AGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGG
Celera SNP ID:            hCV7504245
SNP Position Transcript:  1419
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 377, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:5955):
AGGGTATTTTGCTGTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACC
S
CTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGA
Celera SNP ID:            hCV27536034
SNP Position Transcript:  1717
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 477, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5956):
GTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGCCCAGGCCGG
K
AATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGAGGATGAGGCTCGCCGTGGG
Celera SNP ID:            hCV126231
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,2)   caucasian(G,16|T,2)   total(G,34|T,4)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None

SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,3)   caucasian(G,20)   total(G,29|T,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None   



Context             (SEQ ID NO:5957):
GCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCAGGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTC
R
GGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGT
Celera SNP ID:            hCV80379
SNP Position Transcript:  912
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,5|G,13)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 208, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,6)      total(G,6|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 208, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:5958):
GCTGCTTTGCCTGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGC
R
GCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGACAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAA
Celera SNP ID:            hCV7504246
SNP Position Transcript:  1117
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,-|G,-)    ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 277, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5959):
TGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGCCT
R
GACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACT
Celera SNP ID:            hCV7504247
SNP Position Transcript:  1029
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 247, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:5960):
ACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCT
S
TGTGAACCCAACAACAAAGAGGGATACTACGGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCC
Celera SNP ID:            hCV148061
SNP Position Transcript:  1860
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|G,8)      total(G,8|C,4) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   JBIC-allele(G,56|C,669)   total(G,56|C,669)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 524, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:5961):
GGATCCACAGACTTTCTATTATGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCCACACGGGTCTA
R
GCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGG
Celera SNP ID:            hCV7504256
SNP Position Transcript:  712
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): UNKNOWN(A,25|G,106)      total(G,106|A,25) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 142, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5962):
GAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGAT
K
ATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAA
Celera SNP ID:            hCV12061636
SNP Position Transcript:  2433
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1018, None   



Context             (SEQ ID NO:5963):
GACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGTTGCTGTGCCTTGATGGTACCAGGAAA
Y
CTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTACGTCA
Celera SNP ID:            hCV7505275
SNP Position Transcript:  2053
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(T,97|C,558)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(T,71|C,402)   Japanese(T,128|C,453)      total(C,1413|T,296) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 589, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:5964):
TAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAA
M
CCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGT
Celera SNP ID:            hCV7505276
SNP Position Transcript:  2221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 645, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5965):
GCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAG
R
CAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACGGGTTTTTAAAAGTCCCCCCCAGGATGGAT
Celera SNP ID:            hCV27864036
SNP Position Transcript:  1175
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 296, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:5966):
TCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGC
Y
TGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGA
Celera SNP ID:            hCV12061602
SNP Position Transcript:  1027
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;Caucasian(T,59|C,400)      total(C,400|T,59);no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 247, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5967):
CCAGCCCGCCCAGGCCGGGAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGA
R
GATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCAT
Celera SNP ID:            hCV25647443
SNP Position Transcript:  287
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,9|G,3)   total(A,15|G,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,8|G,8)   total(A,21|G,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1018, None   



Context             (SEQ ID NO:5968):
TGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCT
R
TAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCGCTGGCTGGAACAT
Celera SNP ID:            hCV26218254
SNP Position Transcript:  1630
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1018, 448, (I,ATA)   (V,GTA)      448, (V,GTA)   (I,ATA)      



Context             (SEQ ID NO:5969):
AAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTGTGTGAACCCAACAACAAAGAGGGATACTA
Y
GGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATC
Celera SNP ID:            hCV12061621
SNP Position Transcript:  1890
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1018, 534, (Y,TAC)   (Y,TAT)      



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2345011 - 209000072114866
Public Transcript Accession: NM_001063
Celera Protein:              hCP1910296 - 209000072114841
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61856894..61867639)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:322):
AGGTGATCAGTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGC
CCAGGCCGGKAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGARGATGAGGC
TCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCATGAGGCCAC
TAAGTGCCAGAGTTTCCGCGACCATATGAAAAGCGTCATTCCATCCGATGGTCCCAGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCA
GCTTCGAGGCAAGAAGTCCTGCCACACGGGTCTARGCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAA
CCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCRGGGTGTG
GCTGCTCCACCCTTAACCAATACTTCGGCTACTCRGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATT
TGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGCYTRGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCC
CAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCRGCAAGGAGGACTTGAT

Protein Sequence    (SEQ ID NO:1019):
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSCCCGEEG


SNP Information

Context             (SEQ ID NO:5970):
GTGGGACGAGTAAGGAAGGGGGGTTGGGAGAGGGGCGATTGGGCAACCCGGCTGCACAAACACGGGAGGTCAAAGATTGCGCCCAGCCCGCCCAGGCCGG
K
AATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGAGGATGAGGCTCGCCGTGGG
Celera SNP ID:            hCV126231
SNP Position Transcript:  110
SNP Source:               Applera
Population(Allele,Count): african american(G,18|T,2)   caucasian(G,16|T,2)   total(G,34|T,4)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None

SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,3)   caucasian(G,20)   total(G,29|T,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,4)   total(G,4|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5971):
CACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCC
R
GGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTCGGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGA
Celera SNP ID:            hCV80378
SNP Position Transcript:  593
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5972):
GCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCAGGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTC
R
GGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGT
Celera SNP ID:            hCV80379
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,5|G,13)   total(A,8|G,38)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,6)      total(G,6|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5973):
GCTGCTTTGCCTGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGC
R
GCAAGGAGGACTTGAT
Celera SNP ID:            hCV7504246
SNP Position Transcript:  840
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,-|G,-)    ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5974):
TGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGCCT
R
GACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACT
Celera SNP ID:            hCV7504247
SNP Position Transcript:  752
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5975):
GTCATTCCATCCGATGGTCCCAGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCCACACGGGTCTA
R
GCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGG
Celera SNP ID:            hCV7504256
SNP Position Transcript:  435
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): UNKNOWN(A,25|G,106)      total(G,106|A,25) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5976):
TCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGC
Y
TGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGA
Celera SNP ID:            hCV12061602
SNP Position Transcript:  750
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;Caucasian(T,59|C,400)      total(C,400|T,59);no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1019, None   



Context             (SEQ ID NO:5977):
CCAGCCCGCCCAGGCCGGGAATGGAATAAAGGGACGCGGGGCGCCGGAGGCTGCACAGAAGCGAGTCCGACTGTGCTCGCTGCTCAGCGCCGCACCCGGA
R
GATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTCCCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCAT
Celera SNP ID:            hCV25647443
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,9|G,3)   total(A,15|G,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,8|G,8)   total(A,21|G,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1019, None   



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2320696 - 209000072114835
Public Transcript Accession: NM_001063
Celera Protein:              hCP1785815 - 209000072114837
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61834876..61867481)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:323):
CGACTGTGCTCGCTGCTCAGCGCCGCACCCGGARGATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGCAAACGAAGCGGATGCTGTGA
CACTGGATGCAGGTTTGGTGTATGATGCTTACCTGGCTCCCAATAACCTGAAGCCTGTGGTGGCAGAGTTCTATGGGTCAAAAGAGGATCCACAGACTTT
CTATTATGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCCACACGGGTCTARGCAGGTCCGCTGGG
TGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTT
GTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCRGGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTCRGGAGCCTTCAAGTG
TCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGC
YTRGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCRGCAAGGAGG
ACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGRCAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCT
GTTTAAGGACTCTGCCCACGGGTTTTTAAAAGTCCCCCCCAGGATGGATGCCAAGATGTACCTGGGCTATGAGTATGTCACTGCCATCCGGAATCTACGG
GAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTGSAGTGTTA
ACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGGATGGAGG
GTTTGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTT
GCTRTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCSCTGGCTGGA
ACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCT
CTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTSTGTGAACCCAACAACAAAGAGGGATACTAYGGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAG
GGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGT
TGCTGTGCCTTGATGGTACCAGGAAAYCTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGA
AGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAAMCCAAG
GACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGTTGGTA
ACCTGAGAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAAC
GCAGATKATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAA
AAATAAAAATTATTATTGATTTTATATTTCAAAAACTCCATTCTTTCCTAAATATTTTCAACAAAGGATTTCTTTATGCATTCTGCCTAAATACCTATGC
AACTGAGCCCTTCCTTCTCAGCTCAAGATTCGTCTGGTCTTTCCCTACAGCTTTGTGTGTGCCATGGCCACATCTCCTGGGTACAGTTCAAGGAGACATC
TTTTCTAAAAGGGTCTGCGTGATCATTAAAATATAATCAAATGT

Protein Sequence    (SEQ ID NO:1020):
MNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHS
TIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPR
MDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVL
AENYNKSDNCEDTPEAGYFAVAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEP
NNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLF
GSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP


SNP Information

Context             (SEQ ID NO:5978):
CACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCC
R
GGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTCGGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGA
Celera SNP ID:            hCV80378
SNP Position Transcript:  444
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 67, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:5979):
ATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTG
S
AGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGG
Celera SNP ID:            hCV7504245
SNP Position Transcript:  993
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 250, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:5980):
AGGGTATTTTGCTGTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACC
S
CTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGA
Celera SNP ID:            hCV27536034
SNP Position Transcript:  1291
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 350, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5981):
GCAGCTGTGCCCCTTGTGCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCAGGGTGTGGCTGCTCCACCCTTAACCAATACTTCGGCTACTC
R
GGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGT
Celera SNP ID:            hCV80379
SNP Position Transcript:  486
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,5|G,13)   total(A,8|G,38)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 81, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,6)      total(G,6|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 81, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:5982):
GCTGCTTTGCCTGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGC
R
GCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGACAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAA
Celera SNP ID:            hCV7504246
SNP Position Transcript:  691
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,-|G,-)    ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 150, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5983):
TGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGCCT
R
GACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACT
Celera SNP ID:            hCV7504247
SNP Position Transcript:  603
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 120, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:5984):
ACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCT
S
TGTGAACCCAACAACAAAGAGGGATACTACGGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCC
Celera SNP ID:            hCV148061
SNP Position Transcript:  1434
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|G,8)      total(G,8|C,4) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   JBIC-allele(G,56|C,669)   total(G,56|C,669)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 397, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:5985):
GGATCCACAGACTTTCTATTATGCTGTTGCTGTGGTGAAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCCACACGGGTCTA
R
GCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAGCCACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGG
Celera SNP ID:            hCV7504256
SNP Position Transcript:  286
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): UNKNOWN(A,25|G,106)      total(G,106|A,25) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 15, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5986):
GAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGAT
K
ATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAA
Celera SNP ID:            hCV12061636
SNP Position Transcript:  2007
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1020, None   



Context             (SEQ ID NO:5987):
GACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGTTGCTGTGCCTTGATGGTACCAGGAAA
Y
CTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTACGTCA
Celera SNP ID:            hCV7505275
SNP Position Transcript:  1627
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(T,97|C,558)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(T,71|C,402)   Japanese(T,128|C,453)      total(C,1413|T,296) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 462, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:5988):
TAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAA
M
CCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGT
Celera SNP ID:            hCV7505276
SNP Position Transcript:  1795
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 518, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:5989):
GCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAG
R
CAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACGGGTTTTTAAAAGTCCCCCCCAGGATGGAT
Celera SNP ID:            hCV27864036
SNP Position Transcript:  749
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 169, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:5990):
TCTGAAGGATGGTGCTGGGGATGTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGACCAGTATGAGCTGCTTTGC
Y
TGGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGCCACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGA
Celera SNP ID:            hCV12061602
SNP Position Transcript:  601
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;Caucasian(T,59|C,400)      total(C,400|T,59);no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 120, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:5991):
CGACTGTGCTCGCTGCTCAGCGCCGCACCCGGA
R
GATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGCAAACGAAGCGGATGCTGTGACACTGGATGCAGGTTTGGTGTATGATGCTTACCT
Celera SNP ID:            hCV25647443
SNP Position Transcript:  34
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,9|G,3)   total(A,15|G,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1020, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,8|G,8)   total(A,21|G,19)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1020, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1020, None   



Context             (SEQ ID NO:5992):
TGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCT
R
TAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCGCTGGCTGGAACAT
Celera SNP ID:            hCV26218254
SNP Position Transcript:  1204
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1020, 321, (I,ATA)   (V,GTA)      321, (V,GTA)   (I,ATA)      



Context             (SEQ ID NO:5993):
AAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTGTGTGAACCCAACAACAAAGAGGGATACTA
Y
GGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATC
Celera SNP ID:            hCV12061621
SNP Position Transcript:  1464
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1020, 407, (Y,TAC)   (Y,TAT)      



Gene Number:                 114
Celera Gene:                 hCG2023558 - 209000072114878
Celera Transcript:           hCT2345013 - 209000072114908
Public Transcript Accession: NM_001063
Celera Protein:              hCP1910297 - 209000072114843
Public Protein Accession:    NP_001054
Gene Symbol:                 TF
Protein Name:                transferrin;PRO1557
Celera Genomic Axis:         GA_x5YUV32VYQG(61835090..61904317)
Chromosome:                  Chr3
OMIM number:                 190000
OMIM Information:            TRANSFERRIN;TF


Transcript Sequence (SEQ ID NO:324):
TGAGGCAAGAAGTCCTGCCACACTGCAGTTGGCACTTCTGCAAGCTGGAACATCCCCATGAAGTATGGGCRGCAAGGAGGACTTGATCTGGGAGCTTCTC
AACCAGGCCCAGGAACATTTTGGCAAAGRCAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACG
GGTTTTTAAAAGTCCCCCCCAGGATGGATGCCAAGATGTACCTGGGCTATGAGTATGTCACTGCCATCCGGAATCTACGGGAAGGCACATGCCCAGAAGC
CCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTGSAGTGTTAACAGTGTAGGGAAAATAGAG
TGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGGATGGAGGGTTTGTCTACATAGCGGGCA
AGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCTRTAGCAGTGGTGAAGAA
ATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCSCTGGCTGGAACATCCCCATGGGCCTGCTC
TACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCT
CAGGCCTAAACCTSTGTGAACCCAACAACAAAGAGGGATACTAYGGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAA
ACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGTTGCTGTGCCTTGATGGTACC
AGGAAAYCTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATAT
TACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAAMCCAAGGACCTTCTGTTCAGAGATGA
CACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGTTGGTAACCTGAGAAAATGCTCCACC
TCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGATKATCCATGAGTTTG
CCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAAAATTATTATTGAT
TTTATATTTC

Protein Sequence    (SEQ ID NO:1021):
MGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKC
DEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAVAVVKKSASDLTWDNLKGKKSCHTAVG
RTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLN
EKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEY
VKAVGNLRKCSTSSLLEACTFRRP


SNP Information

Context             (SEQ ID NO:5994):
ATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCTGTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTG
S
AGTGTTAACAGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGAATGGAGAAGCTGATGCCATGAGCTTGG
Celera SNP ID:            hCV7504245
SNP Position Transcript:  373
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 103, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:5995):
AGGGTATTTTGCTGTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACC
S
CTGGCTGGAACATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGA
Celera SNP ID:            hCV27536034
SNP Position Transcript:  671
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 203, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:5996):
TGAGGCAAGAAGTCCTGCCACACTGCAGTTGGCACTTCTGCAAGCTGGAACATCCCCATGAAGTATGGGC
R
GCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGACAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAA
Celera SNP ID:            hCV7504246
SNP Position Transcript:  71
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,-|G,-)    ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 3, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:5997):
ACCACTGCAGATTTGATGAATTTTTCAGTGAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCT
S
TGTGAACCCAACAACAAAGAGGGATACTACGGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCC
Celera SNP ID:            hCV148061
SNP Position Transcript:  814
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|G,8)      total(G,8|C,4) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   JBIC-allele(G,56|C,669)   total(G,56|C,669)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1021, 250, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:5998):
GAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAAAATCTCAGAGGTAGGGCTGCCACCAAGGTGAAGATGGGAACGCAGAT
K
ATCCATGAGTTTGCCCTGGTTTCACTGGCCCAAGTGGTTTGTGCTAACCACGTCTGTCTTCACAGCTCTGTGTTGCCATGTGTGCTGAACAAAAAATAAA
Celera SNP ID:            hCV12061636
SNP Position Transcript:  1387
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1021, None   



Context             (SEQ ID NO:5999):
GACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGTTGCTGTGCCTTGATGGTACCAGGAAA
Y
CTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGAGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTACGTCA
Celera SNP ID:            hCV7505275
SNP Position Transcript:  1007
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(T,97|C,558)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(T,71|C,402)   Japanese(T,128|C,453)      total(C,1413|T,296) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 315, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:6000):
TAAGGAAGCTTGCGTCCACAAGATATTACGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTGTTCCGGTCGGAA
M
CCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTTCATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGT
Celera SNP ID:            hCV7505276
SNP Position Transcript:  1175
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 371, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:6001):
TTGGCACTTCTGCAAGCTGGAACATCCCCATGAAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAG
R
CAAATCAAAAGAATTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACGGGTTTTTAAAAGTCCCCCCCAGGATGGAT
Celera SNP ID:            hCV27864036
SNP Position Transcript:  129
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 22, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6002):
TGTCTACATAGCGGGCAAGTGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACACCAGAGGCAGGGTATTTTGCT
R
TAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGGGACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCGCTGGCTGGAACAT
Celera SNP ID:            hCV26218254
SNP Position Transcript:  584
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1021, 174, (I,ATA)   (V,GTA)      174, (V,GTA)   (I,ATA)      



Context             (SEQ ID NO:6003):
AAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCAGGCCTAAACCTGTGTGAACCCAACAACAAAGAGGGATACTA
Y
GGCTACACAGGCGCTTTCAGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAACACTGGGGGAAAAAACCCTGATC
Celera SNP ID:            hCV12061621
SNP Position Transcript:  844
SNP Source:               HGBASE
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1021, 260, (Y,TAC)   (Y,TAT)      



Gene Number:                 115
Celera Gene:                 hCG2030035 - 209000073883476
Celera Transcript:           hCT2330881 - 209000073883481
Public Transcript Accession: NM_032832
Celera Protein:              hCP1875706 - 209000073883494
Public Protein Accession:    NP_116221
Gene Symbol:                 LRP11
Protein Name:                low density lipoprotein receptor-related protein 11;FLJ14735, bA350J20.3;bA350J20.3
Celera Genomic Axis:         GA_x54KRFTF0F9(20797806..20820126)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:325):
GGGGCGGGRCTCACCAAGGCTCCWCCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCG
CAGGCCGGGGCGGAGAGGCGCAGGGCGCTGGGCAGTCTCCGGCGAGGGCAAGGAGCGGTGCCCGGCTGGGCCGGCTATGTCTCCCGCTACTGCGGTTCCC
GCCGGCGCCCGCGACCTCGGGGGAGCAGCCGGGTTCGGGGGCGCCGCGCTGTGAGGCCGGGGCCTAGAGCCAGCCGCGGCCGCGCAGGAGGGGCCCAGGG
CCCGCGCTCGCCCGCGTCCCCGCCTTCCTCCCGCGCTCAGCCCCGCCTCGGCTCGCTGCCCTTGGCTCTCGTCGCCATGGCCTCCGTCGCCCAGGAGAGC
GCGGGCTCGCAGCGCCGGCTACCGCCGCGTCACGGGGCGCTGCGCGGGCTGCTACTGCTCTGCCTGTGGCTGCCAAGCGGCCGTGCGGCCTTGCCGCCCG
CGGCGCCGCTGTCCGAACTGCACGCGCAGCTGTCGGGCGTGGAGCAGCTGCTGGAGGAGTTCCGCCGGCAACTGCAGCAGGAGCGGCCTCAGGAGGAGCT
GGAGCTGGAGCTGCGCGCGGGCGGCGGCCCCCAGGAGGACTGCCCGGGCCCGGGCAGCGGCGGCTACAGCGCAATGCCTGACGCCATCATCCGCACCAAG
GACTCCCTGGCGGCGGGTGCCAGCTTCCTGCGGGCGCCGGCGGCCGTGCGGGGCTGGCGGCAATGCGTGGCGGCCTGCTGCTCCGAGCCGCGCTGCTCCG
TGGCCGTGGTGGAGCTGCCCCGGCGCCCCGCGCCCCCGGCAGCCGTGCTCGGCTGCTACCTCTTCAACTGCACGGCGCGCGGCCGCAACGTCTGCAAGTT
CGCGCTGCACAGCGGCTACAGCAGCTACAGCCTCAGCCGCGCGCCGGACGGCGCCGCCCTGGCCACCGCGCGCGCCTCGCCCCGGCAGGAAAAGGATGCG
CCTCCACKTAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGCSAGAGCACAGATGACCACGCCATCGTCC
AGTATGAGTGGGCACTGCTGCAGGGGGACCCGTCAGTGGACATGAAGGTGCCTCAATCAGGAACCCTGAAGCTGTCCCACCTACAGGAGGGAACCTACAC
CTTCCAGCTGACCGTGACGGACACTGCCGGGCAGAGAAGCTCTGACAACGTGTCAGTGACAGTGCTTCGCGCAGCCTACTCCACAGGAGGTGAGAAGAAA
GTCCTTCCCTCGCTTCCCACTGCTTGTGGAAGGCAATGTCGGGTTGGCGCTTTGTCCTCTGGCTCTGCGCTCCATGGGCTCTTCCATTTTATTTTTGGTT
ATTGCTGAATGAGAGAGTCTTTGCTAAAAACACAATAACAAAAGCAGGCTCTCTTCTGTTTTGGGCTTAGCCGATGCTACTGGGTTGGGGTGGAGGRAGC
ACTCCAGGGGATGAGAAGAGATGCTCCCGCTTCTCTTGACTCGACTTCATCAAAGACAATTGCTTGGCTATTCTGGGAGAGGACTTTGTTTACAGATGGA
TGGTCCATTTGCTGCATCTGTTCCAAGAGGGAAGCTAAGGAGTTTAGTGAAACCAGTTGAACTCGTGGAAGCAGAGAGTGGAATGGCGGTTACTGGAGGC
TGTGCRGGGGACGGACTGGGAAAGGAGAGACGCTGGTCAAAGGGTACAAAGTGTCACTGAGACCGGAGGAACAGGTTCTGGTGATCTGTTGCACAGCATG
GTGACTATAGTTAATGATAATGTATTGTCTGTTTCAAAATTGCTAAAACAGTAGGTTTTAAATGTTGTCATCACAAAAAGATTACAAGTAGGGGAGATGA
TAGATATGTCAGTTAGCTTGATGTAATCATTCCACAATGCAAACATATATCAAAACATCACATTGTGCCTCATAAATATATACTCTCCTCTTTTGTCAAT
TAAAAATACATATTAAAAAAACAAGGAAAAGGCATACCACAGGATTGAAGAAAGACTTGGCTCTTGGGTGTAATCAATTGCTGATATAATAAGTCACTTC
AAAAATTTTAGAAAGAGAAAAAGAGTGCAGCTAAGGAGTACGGTTAAAATTAATTGAAATACGCAAAGGACCCATCAATTTGAAAGTGCTACCTACACAT
TTTCATAGACACTT

Protein Sequence    (SEQ ID NO:1022):
MASVAQESAGSQRRLPPRHGALRGLLLLCLWLPSGRAALPPAAPLSELHAQLSGVEQLLEEFRRQLQQERPQEELELELRAGGGPQEDCPGPGSGGYSAM
PDAIIRTKDSLAAGASFLRAPAAVRGWRQCVAACCSEPRCSVAVVELPRRPAPPAAVLGCYLFNCTARGRNVCKFALHSGYSSYSLSRAPDGAALATARA
SPRQEKDAPPLSKAGQDVVLHLPTDGVVLDGRESTDDHAIVQYEWALLQGDPSVDMKVPQSGTLKLSHLQEGTYTFQLTVTDTAGQRSSDNVSVTVLRAA
YSTGGEKKVLPSLPTACGRQCRVGALSSGSALHGLFHFIFGYC


SNP Information

Context             (SEQ ID NO:6004):
CACAGCGGCTACAGCAGCTACAGCCTCAGCCGCGCGCCGGACGGCGCCGCCCTGGCCACCGCGCGCGCCTCGCCCCGGCAGGAAAAGGATGCGCCTCCAC
K
TAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGCGAGAGCACAGATGACCACGCCATCGTCCAGTATGAG
Celera SNP ID:            hCV25967911
SNP Position Transcript:  1008
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,17)   caucasian(T,6)   total(G,1|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1022, 211, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:6005):
GGGGCGGG
R
CTCACCAAGGCTCCACCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCGCAGGCCGGG
Celera SNP ID:            hCV11156383
SNP Position Transcript:  9
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1022, None   



Context             (SEQ ID NO:6006):
CGCCTCGCCCCGGCAGGAAAAGGATGCGCCTCCACTTAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGC
S
AGAGCACAGATGACCACGCCATCGTCCAGTATGAGTGGGCACTGCTGCAGGGGGACCCGTCAGTGGACATGAAGGTGCCTCAATCAGGAACCCTGAAGCT
Celera SNP ID:            hCV11156392
SNP Position Transcript:  1073
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1022, 233, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:6007):
GGGGCGGGGCTCACCAAGGCTCC
W
CCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCGCAGGCCGGGGCGGAGAGGCGCAGG
Celera SNP ID:            hCV11156384
SNP Position Transcript:  24
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1022, None   



Context             (SEQ ID NO:6008):
CATTTGCTGCATCTGTTCCAAGAGGGAAGCTAAGGAGTTTAGTGAAACCAGTTGAACTCGTGGAAGCAGAGAGTGGAATGGCGGTTACTGGAGGCTGTGC
R
GGGGACGGACTGGGAAAGGAGAGACGCTGGTCAAAGGGTACAAAGTGTCACTGAGACCGGAGGAACAGGTTCTGGTGATCTGTTGCACAGCATGGTGACT
Celera SNP ID:            hCV25956012
SNP Position Transcript:  1706
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,38)   total(A,1|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1022, None



Context             (SEQ ID NO:6009):
GGTTATTGCTGAATGAGAGAGTCTTTGCTAAAAACACAATAACAAAAGCAGGCTCTCTTCTGTTTTGGGCTTAGCCGATGCTACTGGGTTGGGGTGGAGG
R
AGCACTCCAGGGGATGAGAAGAGATGCTCCCGCTTCTCTTGACTCGACTTCATCAAAGACAATTGCTTGGCTATTCTGGGAGAGGACTTTGTTTACAGAT
Celera SNP ID:            hCV16183560
SNP Position Transcript:  1497
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,397|G,1078)   total(G,1078|A,397) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1022, None   



Gene Number:                 115
Celera Gene:                 hCG2030035 - 209000073883476
Celera Transcript:           hCT2330880 - 209000073883478
Public Transcript Accession: NM_032832
Celera Protein:              hCP1875708 - 209000073883493
Public Protein Accession:    NP_116221
Gene Symbol:                 LRP11
Protein Name:                low density lipoprotein receptor-related protein 11;FLJ14735, bA350J20.3;bA350J20.3
Celera Genomic Axis:         GA_x54KRFTF0F9(20797806..20843385)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:326):
GGGGCGGGRCTCACCAAGGCTCCWCCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCG
CAGGCCGGGGCGGAGAGGCGCAGGGCGCTGGGCAGTCTCCGGCGAGGGCAAGGAGCGGTGCCCGGCTGGGCCGGCTATGTCTCCCGCTACTGCGGTTCCC
GCCGGCGCCCGCGACCTCGGGGGAGCAGCCGGGTTCGGGGGCGCCGCGCTGTGAGGCCGGGGCCTAGAGCCAGCCGCGGCCGCGCAGGAGGGGCCCAGGG
CCCGCGCTCGCCCGCGTCCCCGCCTTCCTCCCGCGCTCAGCCCCGCCTCGGCTCGCTGCCCTTGGCTCTCGTCGCCATGGCCTCCGTCGCCCAGGAGAGC
GCGGGCTCGCAGCGCCGGCTACCGCCGCGTCACGGGGCGCTGCGCGGGCTGCTACTGCTCTGCCTGTGGCTGCCAAGCGGCCGTGCGGCCTTGCCGCCCG
CGGCGCCGCTGTCCGAACTGCACGCGCAGCTGTCGGGCGTGGAGCAGCTGCTGGAGGAGTTCCGCCGGCAACTGCAGCAGGAGCGGCCTCAGGAGGAGCT
GGAGCTGGAGCTGCGCGCGGGCGGCGGCCCCCAGGAGGACTGCCCGGGCCCGGGCAGCGGCGGCTACAGCGCAATGCCTGACGCCATCATCCGCACCAAG
GACTCCCTGGCGGCGGGTGCCAGCTTCCTGCGGGCGCCGGCGGCCGTGCGGGGCTGGCGGCAATGCGTGGCGGCCTGCTGCTCCGAGCCGCGCTGCTCCG
TGGCCGTGGTGGAGCTGCCCCGGCGCCCCGCGCCCCCGGCAGCCGTGCTCGGCTGCTACCTCTTCAACTGCACGGCGCGCGGCCGCAACGTCTGCAAGTT
CGCGCTGCACAGCGGCTACAGCAGCTACAGCCTCAGCCGCGCGCCGGACGGCGCCGCCCTGGCCACCGCGCGCGCCTCGCCCCGGCAGGAAAAGGATGCG
CCTCCACKTAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGCSAGAGCACAGATGACCACGCCATCGTCC
AGTATGAGTGGGCACTGCTGCAGGGGGACCCGTCAGTGGACATGAAGGTGCCTCAATCAGGAACCCTGAAGCTGTCCCACCTACAGGAGGGAACCTACAC
CTTCCAGCTGACCGTGACGGACACTGCCGGGCAGAGAAGCTCTGACAACGTGTCAGTGACAGTGCTTCGCGCAGCCTACTCCACAGGAGGATGTTTGCAC
ACTTGCTCACGCTACCACTTCTTCTGTGACGATGGCTGCTGCATTGACATCACGCTCGCCTGCGATGGAGTGCAGCAGTGTCCTGATGGGTCTGATGAAG
ACTTCTGCCAGAATCTGGGCCTGGACCGCAAGATGGTAACCCACACGGCAGCTAGTCCTGCCCTGCCAAGAACCACAGGGCCGAGTGAAGATGCAGGGGG
TGACTCCTTGGTGGAAAAGTCTCAGAAAGCCACTGCCCCAAACAAGCCACCTGCATTATCAAACACAGAGAAGAGGAATCATTCCGCCTTTTGGGGACCA
GAGAGTCAAATCATTCCTGTGATGCCAGATAGTAGTTCCTCAGGGAAGAACAGAAAAGAGGAAAGTTATATATTTGAGTCAAAGGGTGATGGAGGAGGAG
GGGAACACCCAGCCCCAGAAACAGGTGCAGTGCTACCCCTGGCGCTGGGTTTGGCTATCACTGCTCTGCTGCTTCTCATGGTTGCATGCCGACTACGACT
GGTGAAACAGAAACTGAAAAAAGCTCGTCCCATTACATCTGAGGAATCGGACTACCTCATAAATGGGATGTATCTATAGTAATGTAATTTCAATACCTTG
GGGCAGGGACATGTTTTGTTTATAATTTATACATCTATTAAGTTCTGGATATTTACAGCTTCTTTTGTTTTTAATTGGGCCAGAAGATTCTGCAAATCCC
AAATCTTTCTTTATTATTTATTGTAAAAAAAGKTTCCTTAGAAGTCATAAAATATTTTGAAATTTAGAGAGGAATTCATGATTAAAGATTCCTAAAAATA
TAATTCTGATTTATGTAAGCTGTCCCTGAAAATAGAAATGTGTACTTAGCTGAGAGAAAATTCAGCATCTCAGGAGGTGGTATTAGGATGACTGTGTTAA
CCCATTACCTTTTAGAAGCCAACTGTTGGCCCCTTACCATGCTGGACTGCTATAGGCCCAGCTTCCCCTTGTTCTGTGGCCCTTTTCTTCCTCCTTGAAG
CTCCCAGTATTCTTTTTCTTTTCCCCTCTAAACCTGTTTCTGAGAGTGGATCTCAAGCAAGTTCATGCCTTCAATCAGATGTTACTTAGGGTGGGTATAC
CTAAATTATAAACCTTATGTACAAGTCAGTAAGCCTTAGGGAAGGTGAGTGTGGGTCCTTCCTAATCCCTCTGACGTCATGTCATATAGGTGGCTGCCTC
CTTAGACTGACCTTTGGGAGAAAAAAACCCCAGACTTTGAATTAGTAACAGCTCTAAGATGGTCATGCAGTGAGATAGGAAATCAAGATGGAAGCAGAGA
ATCTGGCATGCCAAAAACTAACAGAAACTTAGTTGAAGGCAAAGAGAGCAAGGAGAAMGTTTAATACTTCATTACATCAAATCAACACTGCTCCATGGTG
AGAGCACAGCAACTCATTTATATATATATATATAGGCTTTGTTGATGAAAAACGACAATTGAAGAGAGGACGTTGAGTGGATTCCTGGGTACAGCTTTTG
TAAAAATGTCACCATGGCTTTCATCCAATGGAATGAGTCGATGTTTTTTAATGCTATAAAATGTTAGAATGTGCCATCAGCTAATGCCAGGCTTACGTAT
TTCTAGACCATAAAGCAGTTTTTCACAAATTCATCTTTACAGAAAACCAGCATCTAGCTTAGCATCTTTCCCCTTTTAATTTGTAGGCTTTTAAAGGCAA
ATCATTCCCACCATCACTTAACGCCGGGATTATACACATTCTAGAAATGATTCTGAGAGGAGTGTATAGTATGGTGCCTATCTACACTCACATGATATTC
TTATTCACGTTTTTTTTAACCATAAGTGGCAAATATTTTAAAATATTTGAAAAACACTCCAGAATCTAGTACGCTTTATTTTTAGACTGAACCTAAAGTA
GGTTGTTCTTTTAACAAAGGGTTTAATTCGGGTGGGGAATATAACATATCAAAATACATGAACAAATGGAAAGTTACTTCTAGAAAAGCAAAGAAATTGG
GTATCATTTTTGTTTCTTGGGAAGCTAATTTTGTTGAATGTTTAGAATTGAGCAAAGATGTAAATTTTTGAAGGGCAGTTTAGAAAAATTAACTTTGTGA
ATGAACTTAAGATGTCTGTACTCTATATGTGATGCTGTGCAGTTTGTTTTTATATGGAAAGATGTCAACTATAGCCATAACCAATAAAATAAAAACTGAT
GAGGCATGCAGCTTTCAGCACATCTTTTATACATGAAGAAATTAATTTTGTGTTGCTATGGTGTTGAAATATCCAAGATGTTCTGTATCTATGTAAACAT
GATTCCTTTAATAAATTGTATTTTATTATT

Protein Sequence    (SEQ ID NO:1023):
MASVAQESAGSQRRLPPRHGALRGLLLLCLWLPSGRAALPPAAPLSELHAQLSGVEQLLEEFRRQLQQERPQEELELELRAGGGPQEDCPGPGSGGYSAM
PDAIIRTKDSLAAGASFLRAPAAVRGWRQCVAACCSEPRCSVAVVELPRRPAPPAAVLGCYLFNCTARGRNVCKFALHSGYSSYSLSRAPDGAALATARA
SPRQEKDAPPLSKAGQDVVLHLPTDGVVLDGRESTDDHAIVQYEWALLQGDPSVDMKVPQSGTLKLSHLQEGTYTFQLTVTDTAGQRSSDNVSVTVLRAA
YSTGGCLHTCSRYHFFCDDGCCIDITLACDGVQQCPDGSDEDFCQNLGLDRKMVTHTAASPALPRTTGPSEDAGGDSLVEKSQKATAPNKPPALSNTEKR
NHSAFWGPESQIIPVMPDSSSSGKNRKEESYIFESKGDGGGGEHPAPETGAVLPLALGLAITALLLLMVACRLRLVKQKLKKARPITSEESDYLINGMYL


SNP Information

Context             (SEQ ID NO:6010):
CACAGCGGCTACAGCAGCTACAGCCTCAGCCGCGCGCCGGACGGCGCCGCCCTGGCCACCGCGCGCGCCTCGCCCCGGCAGGAAAAGGATGCGCCTCCAC
K
TAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGCGAGAGCACAGATGACCACGCCATCGTCCAGTATGAG
Celera SNP ID:            hCV25967911
SNP Position Transcript:  1008
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,17)   caucasian(T,6)   total(G,1|T,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1023, 211, (R,CGT)   (L,CTT)   



Context             (SEQ ID NO:6011):
GGGGCGGG
R
CTCACCAAGGCTCCACCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCGCAGGCCGGG
Celera SNP ID:            hCV11156383
SNP Position Transcript:  9
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1023, None   



Context             (SEQ ID NO:6012):
CGCCTCGCCCCGGCAGGAAAAGGATGCGCCTCCACTTAGCAAGGCTGGGCAGGATGTGGTTCTGCATCTGCCCACAGACGGGGTGGTTCTAGACGGCCGC
S
AGAGCACAGATGACCACGCCATCGTCCAGTATGAGTGGGCACTGCTGCAGGGGGACCCGTCAGTGGACATGAAGGTGCCTCAATCAGGAACCCTGAAGCT
Celera SNP ID:            hCV11156392
SNP Position Transcript:  1073
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1023, 233, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:6013):
GGGGCGGGGCTCACCAAGGCTCC
W
CCCCGCCGCGGCCACTGTTCGCACACACCTGGTGCTGATCAACGCCGAGGCCGACTCGTCGCCACCCAGCGCGCCGCAGGCCGGGGCGGAGAGGCGCAGG
Celera SNP ID:            hCV11156384
SNP Position Transcript:  24
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1023, None   



Context             (SEQ ID NO:6014):
GATGGTCATGCAGTGAGATAGGAAATCAAGATGGAAGCAGAGAATCTGGCATGCCAAAAACTAACAGAAACTTAGTTGAAGGCAAAGAGAGCAAGGAGAA
M
GTTTAATACTTCATTACATCAAATCAACACTGCTCCATGGTGAGAGCACAGCAACTCATTTATATATATATATATAGGCTTTGTTGATGAAAAACGACAA
Celera SNP ID:            hCV27477658
SNP Position Transcript:  2658
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,381|A,1088)   total(A,1088|C,381) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1023, None   



Context             (SEQ ID NO:6015):
ATCTATTAAGTTCTGGATATTTACAGCTTCTTTTGTTTTTAATTGGGCCAGAAGATTCTGCAAATCCCAAATCTTTCTTTATTATTTATTGTAAAAAAAG
K
TTCCTTAGAAGTCATAAAATATTTTGAAATTTAGAGAGGAATTCATGATTAAAGATTCCTAAAAATATAATTCTGATTTATGTAAGCTGTCCCTGAAAAT
Celera SNP ID:            hCV8789019
SNP Position Transcript:  2033
SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1023, None   



Gene Number:                 116
Celera Gene:                 hCG2030094 - 206000038721815
Celera Transcript:           hCT2330964 - 206000038721816
Public Transcript Accession: NM_032832
Celera Protein:              hCP1875658 - 206000038721811
Public Protein Accession:    NP_116221
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x54KRFTF0F9(20742688..20798709)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:327):
GCGAACTTGCAGACGTTGCGGCCGCGCGCCGTGCAGTTGAAGAGGTAGCAGCCGAGCACGGCTGCCGGGGGCGCGGGGCGCCGGGGCAGCTCCACCACGG
CCACGGAGCAGCGCGGCTCGGAGCAGCAGGCCGCCACGCATTGCCGCCAGCCCCGCACGGCCGCCGGCGCCCGCAGGAAGCTGGCACCCGCCGCCAGGGA
GTCCTTGGTGCGGATGATGGCGTCAGGCATTGCGCTGTAGCCGCCGCTGCCCGGGCCCGGGCAGTCCTCCTGGGGGCCGCCGCCCGCGCGCAGCTCCAGC
TCCAGCTCCTCCTGAGGCCGCTCCTGCTGCAGTTGCCGGCGGAACTCCTCCAGCAGCTGCTCCACGCCCGACAGCTGCGCGTGCAGTTCGGACAGCGGCG
CCGCGGGCGGCAAGGCCGCACGGCCGCTTGGCAGCCACAGGCAGAGCAGTAGCAGCCCGCGCAGCGCCCCGTGACGCGGCGGTAGCCGGCGCTGCGAGCC
CGCGCTCTCCTGGGCGACGGAGGCCATGGCGACGAGAGCCAAGGGCAGCGAGCCGAGGCGGGGCTGAGCGCGGGAGGAAGGCGGGGACGCGGGCGAGCGC
GGGCCCTGGGCCCCTCCTGCGCGGCCGCGGCTGGCTCTAGGCCCCGGCCTCACAGCGCGGCGCCCCCGAACCCGGCTGCTCCCCCGAGGTCGCGGGCGCC
GGCGGGAACCGCAGTAGCGGGAGACATAGCCGGCCCAGCCGGGCACCGCTCCTTGCCCTCGCCGGAGACTGCCCAGCGCCCTGCGCCTCTCCGCCCCGGC
CTGCGGCGCGCTGGGTGGCGACGAGTCGGCCTCGGCGTTGATCAGCACCAGGTGTGTGCGAACAGTGGCCGCGGCGGGGWGGAGCCTTGGATGAACCGTT
GTCCACATTCTGTTTTCTGAGTCAAAGAGGAGGAAGATCTGTCCATCGAAACTGAGCTGCCAAGATCCACTGCCGTGTCCTTCGGCTTTCTGCTCACAAG
ACATCCTGGCCTGCAGGGTGAGGGGTTCTGCCCCCATCAAAGAGAGATCAGCTCTGGCCTTGACAGATATTGAGCCCCCATCCTCTTCCACTTGCAATTT
CCTGGTCTTACTTGCTCTGCCACATCCTGGCCTTGCCTCTAGACGTCTTGCGGGGTGAGATGACCTTCCTATTTGTATTTTTACATGAAAACTATAAATG
CCTCTAACCTA

Protein Sequence    (SEQ ID NO:1024):
ELADVAAARRAVEEVAAEHGCRGRGAPGQLHHGHGAARLGAAGRHALPPAPHGRRRPQEAGTRRQGVLGADDGVRHCAVAAAARARAVLLGAAARAQLQL
QLLLRPLLLQLPAELLQQLLHARQLRVQFGQRRRGRQGRTAAWQPQAEQ


SNP Information

Context             (SEQ ID NO:6016):
CCTGCGCCTCTCCGCCCCGGCCTGCGGCGCGCTGGGTGGCGACGAGTCGGCCTCGGCGTTGATCAGCACCAGGTGTGTGCGAACAGTGGCCGCGGCGGGG
W
GGAGCCTTGGATGAACCGTTGTCCACATTCTGTTTTCTGAGTCAAAGAGGAGGAAGATCTGTCCATCGAAACTGAGCTGCCAAGATCCACTGCCGTGTCC
Celera SNP ID:            hCV11156384
SNP Position Transcript:  880
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1024, None   



Gene Number:                 117
Celera Gene:                 hCG2030155 - 145000147710222
Celera Transcript:           hCT2331048 - 145000147710228
Public Transcript Accession: NM_022747
Celera Protein:              hCP1867940 - 197000069391074
Public Protein Accession:    NP_073584
Gene Symbol:                 FLJ22558
Protein Name:                hypothetical protein FLJ22558;FLJ22558
Celera Genomic Axis:         GA_x5YUV32W0QP(46786661..46855841)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:328):
CTGGAAGGTGTCTACTGTTTAGGAATGTGAGACCAAGAGGAAGGGGCCAGCCCTGCCCATTGTCCTTCCAGATCCCTCATCCACCTACATCAGGCAACTG
GAGAGCAAAGTGAGGCTGCTGGAGGGTGACAAGCTCCTCGCACAGCAGGCAGGCTCCGGAGAGTTCCGCACGCTGCGGAAAGGCTTCTCGCCCTACCACT
CGGAGTCCCAGCTTGCGTCCCTGCCGCCCTCCTACCAGGACTCCCTGCAGAACGGCCCGGCCTGCCCCGCACCTGAGCTGCCCTCGCCCCCCTCTGCTGG
CTACAGCCCTGCAGGACAGAAGCCCGAGGCTGTCGTGCATGCCATGAAGGTCCTGGAGGTACACGAGAATCTGGACCGGCAGCTCCAGGACAGCTGTGAG
GAGGACCTGAGTGAGAAGGAGAAGGCCATCGTTCGCGAGATGTGCAACGTGGTCTGGAGAAAGCTGGGAGATGCAGCCAGCTCCAAGCCCTCCATACGGC
AGCACCTGTCTGGGAACCAGTTCAAGGGGCCTTTGTAGGGCCACTCTTCTGTGGACGTGGACTGGCCCTGCTGGGGGTCCCCAGGGGGAGTTTCAGGCCC
CAGACACGGGCAGGACCTCCAGCCCAGCCCCTGTCTTCTTCCTCTGTRGTGAACTGTACATAGGACGCTGCCCGCCCTGGCCCAGCTGCCATGGGTCCGA
TGCACTGGCCCAAGCCGCCATCTCCCGCCTCATACACCAGCAACCTGGGAAGACGAGACGCTGCGACTGTTCCTGCAGCAGAGCGGCCCGGACGCCTCAT
TCCCCCTCTGGGCCCTGGGCTCCATGAGCAAGAGGCTGCAGGCTGCTTCTGAGATCCAGCCTGGGAACTGTCCAGGCTCCTCTGTCCTGCCTGGGATGGA
GGGGCCACTCATCAAACCCTCTACTCCCCGGCTRCCACCCACACTGGACAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCA
AATGCCGTGGCCTGGSCCCAGGCCCCCCAAGCACTGGGTCCCCGGCATGTGGACAAGGCCACTCACCACATCTGTGGCTGGCTGGAGGCTGCCCTGGGCC
CTTCCTGTGACCCTCAGCCTTGGAGGTCAGGGTGCCCTCACACCTGGGGATCTGTGCTCAGCCACCCGATGCCCGCTGCTCCTTGCTTTTGGAGGTCATC
CCCCTCCCCCCCAGTCTCTGCAATGTCCCCCTGCCACCCTGTCCAGGCTATGCCCTTCTTGGGCTCCTCCTGCCCCATGCCTGAGGCACGTCCCTTTTCG
TGGTTTACATGACAGGCCAGTAACAGGAAGGGCCTGGGGAGAGTTTCTGGGCTGAGCCACATGTGATTTTCCTGATGGGCAGCACTGGGCCACAGCTGGG
GCTCTGGTTGGCTGTGACCTCCCCCAGGGCCTGGCTGCATCTTGGGTCCCTGTGGACAGAGCTGTGTAGGCTGCAGATGAGAGTTCTGTTCTTTTTGGGA
AGGAGCGTGTCTGGCCAGGTTCTGCCTTTAGTTTGTGGTGTGACCTTTAGCAGTTCACTCAGCCTGTCTGGGCTCTTGGTGGAAACAGGTCTCTGAGGTT
CCTTTTCGGCCATGCTTATGGCTCCAGGTCATCCAGCGCCACAGGGCAGGGGTCCTCACTGAGGGGGCGTGAGCCAACAGCCGACGGCTGAGGGCGGGCC
GGGTGGAGCTGAGTTCTGCTGCCTTGCAGTCGCTGCGGGTGGAGAGTTGCCTCCCCACTCTGAGCCCGTGTCCTCAGTAGTAAAATGGGCAGCATAAGGC
CCTCCTCACAGGATTCTGGCATCAAGTGAGATCTTCAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAG
GCCTAGAGGGGGTGATGTGTGGCACATGACAGGWDWGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAG
CCCTAGCTCTTGGGTCCAGGACCTCACCAGSTCCTCGTCAGACTCCTGTGCTCTTCCAGGGGCTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCT
TCCTACCCAGCAGGTCTCATGCAGGCCCAGGGCTGGGGATGCAGGCAAGAGGAGGGAGATGGYCGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTG
AGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCCCATCTTAGCCCCARGGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGC
TCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCCRGTCAGGTGGTGCGCTCCCGGTCACTAGGGGTGTACACGTGAAGTTGGGTGA
ACACCTGCTGCTCATGGTACCCAGTGATTCTTGCCCGAGTGGGCAGCTGAGCAGAGGCCCCTCTGGGTCTTGCAGTCCAAAGAACCGCAGAGTAGCCCAA
GGGCTGTGGGTCCATTTTGAGTGGCAGCCAAGTCTGGGAGCCCGTGTGCATCATGTTTGGGTCAGGTTGGCGTGGCCACCACTGAAATAAGCAATAAGTA
CGGGCTCCTGGTACCTGCGGATCTCCTGCAAACAGGCCCAGAGAACAGCCTTGAAGCCACCTTTCCCCTCAAGGGGACTGACCCTGTCTTTAATGCTGCA
GTGGCATCCAGGGATCAGTGGAACATTGCTTTGAGAACCCTCCTGCTGTTACGGAGGCAGCACAAAGCTGGTGACCCCTGAGCCAACACGGCACTGGGAT
GGCTTTCTAGGACAGAACCCTGTCGGCGACTGTCACATCTCAAACTAATAGCTGATTTTAAAAGCCAGCAGCAGCGACGCCATGTACCTGAGTACAGGTG
GCAGTTGCAGAGCCGTGGGCTGTAGAAGGTCAGATGGGGCTTCCCACAGGGGAAATCTGGGCRTGCTGTAGCTCAGGGTGACTCCCAGCTCCGTCACTAG
CAGGGCGACCCCCTTCCTTCTGGAGCCTTAGCTCTGAAAGCCCCCAGTGGGGGTGCCCTTTCAGATGCCCCCTTTCCATTTCAAAGGCTCTGACTCTTGA
TCTTGAAGCCGGACGCGGCACTGGCACTCGGCTTCAGTTTCCACTGTGACAGATGGAGGTCTCCTTTCGCCCCAGCCCAGGTGGCCAAGCCCATCCTGGC
CTCAGAACATGCTGAGCACATTTTGTAGGGTGGCACCTTTTTATCCAAGTTACTAGCTACACATCAGTGTTTAAAGAGAAAAAAGTGACCTTTCATTTTT
TTTTTCTTGAAACTTGAGGAAACAAGATACATACTACTGATTTTTTTTTTTTCTTAAAACTAAATGCATGACTGCAGAGCGGTAGAGGTGTATATTTTTC
ATACTGTGGGGCAAAGTATTTGTGCTGCTTTTTGGAGATGGACTGGAACGTCTGGTTTCTGTCCCCGGGCCCGGCAGCTACGTCTATTTTCTGTAGAAGG
TGCCACAGTGAGACCTGGAGCCACCCCTTCCTGCCCTGGCGCCGTTTAGAGCTGGGAGCCCGTGGACTCCCGGCCTGTTTCTACCTTCTATTCAACCACT
CTGACGTGGGGAGACAAGAAGAAATAGAACTTTTTKATAGTGTGGTAAAAACATTGATTTGAACTATTTTAGTAAAAGGAGTAACAAACAAGATTGTGAT
AGTGTCTACTTTGAGCTAGATAAATAAAGGCCTCTTTGTGAGCCTCCTGGCTGGGTGCTCAGTGCTTGTTTCTGTCGTGGGTGGCAGGGTCAGCAGGCAG
AGACAGGGCCAAGGCCCCTCAAGCACCGCAGATGGGGGCTCAGTCGGGGCCCCTTCCACAGACAGAGCCGTGGCCCCTCAAGGTGGACAGTGAGGCCGCT
GCTCCTCCAGCTGCCTCTGTCTCATCACAGGCCAGAAGTGGAAAGGGTTTCAAATCCAAGCCCCCGGGTTCCTGTGTGYGTTCTACGCAGCAAGGCTTCA
AAGTTTCAAACTGGTTTGGAACTCAACCAGGTCCTCCAAAGGAAACCAAGGCAGGCACAGGATGGGGGCAGGCTGGCTTGGCAGGCAGCTGTGCGGATCC
ACCCAGAGTGCCTTGGGAGGCAGTGGGGTTGGCTGTGGCTGCTGTGAGCTGCAGCCAGGCCTCTCCCGCGTCCCCAGGGTCTGGAAGGAGGGCCTCTGCA
CATTTTATAAGCCACAGACTGCGAAGGCCTGGAGCCCCACCTTCCACCCATAACAAAGAAAGGGATAGTTTCAGAACTGCTTTTATTTGGATAACTGACT
GAAGGAGTCTCATTTGTAACCAAGATGGAATTCACAGTATGTTGTTACATTCACACTTAAAAAATATATCTCTATGTACAGGAATTTGCAAAGAGATGTA
AACATACATTAATTTCCAAGTACATTTCTCCCCTTCTCCCTGGAGGAAAAAAAAAAAGCCATCCAATGAGGCAACCCCTTCAAAATAATTTTAATACAAA
GGATGCAAACATCTATAAATGAAAAATGTGGTTCTTCTGCCCCTTCTGGGTGTCATGGGAGAGAATGTCACCGAATGAAAATGACAACAGCTTGGCTTCA
GATGGAATTGGACTATTTAAAATTGAGTTTCCAGGAAAAATAGGCACTGATTTCTAGAAGGAAATTAACTCCTTACCGAAGCTATTTATTGAGCCAATAT
GGCTGGTTAACGTCCTCACTAKTATAAAGTAACCCAGTGCAGGACTCTCAGACATTAGCTGAACCAAGTGTACACAGTCAGACTGCAAGGGCACTGATGA
GGCTACTCTGAAAGCTGGTTGTCCCCGTCCTCTAGGTGTGAGGACCACTCTGATTTTATCCCAGGGGC

Protein Sequence    (SEQ ID NO:1025):
MSKRLQAASEIQPGNCPGSSVLPGMEGPLIKPSTPRLPPTLDRDHHYLGLDAGGTTSCPNAVAWAQAPQALGPRHVDKATHHICGWLEAALGPSCDPQPW
RSGCPHTWGSVLSHPMPAAPCFWRSSPSPPVSAMSPCHPVQAMPFLGSSCPMPEARPFSWFT


SNP Information

Context             (SEQ ID NO:6017):
AGGGGAGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAG
S
TCCTCGTCAGACTCCTGTGCTCTTCCAGGGGCTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCTTCCTACCCAGCAGGTCTCATGCAGGCCCAGG
Celera SNP ID:            hCV12062254
SNP Position Transcript:  2031
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6018):
CAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGGGG
W
GATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCCTC
Celera SNP ID:            hCV26475781
SNP Position Transcript:  1936
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,4)   total(A,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6019):
CAAGGTGGACAGTGAGGCCGCTGCTCCTCCAGCTGCCTCTGTCTCATCACAGGCCAGAAGTGGAAAGGGTTTCAAATCCAAGCCCCCGGGTTCCTGTGTG
Y
GTTCTACGCAGCAAGGCTTCAAAGTTTCAAACTGGTTTGGAACTCAACCAGGTCCTCCAAAGGAAACCAAGGCAGGCACAGGATGGGGGCAGGCTGGCTT
Celera SNP ID:            hCV25988912
SNP Position Transcript:  3979
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,2)   caucasian(C,37|T,1)   total(C,43|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None



Context             (SEQ ID NO:6020):
ACCCTCTACTCCCCGGCTGCCACCCACACTGGACAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCAAATGCCGTGGCCTGG
S
CCCAGGCCCCCCAAGCACTGGGTCCCCGGCATGTGGACAAGGCCACTCACCACATCTGTGGCTGGCTGGAGGCTGCCCTGGGCCCTTCCTGTGACCCTCA
Celera SNP ID:            hCV25939104
SNP Position Transcript:  1016
SNP Source:               Applera
Population(Allele,Count): african american(C,15|G,15)   caucasian(C,7|G,33)   total(C,22|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1025, 65, (P,CCC)   (A,GCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,6)      total(G,6|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1025, 65, (P,CCC)   (A,GCC)      



Context             (SEQ ID NO:6021):
CTGGCGCCGTTTAGAGCTGGGAGCCCGTGGACTCCCGGCCTGTTTCTACCTTCTATTCAACCACTCTGACGTGGGGAGACAAGAAGAAATAGAACTTTTT
K
ATAGTGTGGTAAAAACATTGATTTGAACTATTTTAGTAAAAGGAGTAACAAACAAGATTGTGATAGTGTCTACTTTGAGCTAGATAAATAAAGGCCTCTT
Celera SNP ID:            hCV26475779
SNP Position Transcript:  3636
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6022):
GCCGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTGAGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCCCATCTTAGCCCCA
R
GGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGCTCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCCGGTCAGGTGGTGCG
Celera SNP ID:            hCV29132970
SNP Position Transcript:  2262
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6023):
TTCAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGG
W
GAGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCC
Celera SNP ID:            hCV15793865
SNP Position Transcript:  1934
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6024):
TCAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGGG
D
AGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCCT
Celera SNP ID:            hCV15793866
SNP Position Transcript:  1935
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,4)      total(G,4|T,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6025):
ATTGAGTTTCCAGGAAAAATAGGCACTGATTTCTAGAAGGAAATTAACTCCTTACCGAAGCTATTTATTGAGCCAATATGGCTGGTTAACGTCCTCACTA
K
TATAAAGTAACCCAGTGCAGGACTCTCAGACATTAGCTGAACCAAGTGTACACAGTCAGACTGCAAGGGCACTGATGAGGCTACTCTGAAAGCTGGTTGT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  4722
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6026):
CTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCTTCCTACCCAGCAGGTCTCATGCAGGCCCAGGGCTGGGGATGCAGGCAAGAGGAGGGAGATGG
Y
CGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTGAGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCCCATCTTAGCCCCAGG
Celera SNP ID:            hCV27920792
SNP Position Transcript:  2163
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6027):
GGCTGCAGGCTGCTTCTGAGATCCAGCCTGGGAACTGTCCAGGCTCCTCTGTCCTGCCTGGGATGGAGGGGCCACTCATCAAACCCTCTACTCCCCGGCT
R
CCACCCACACTGGACAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCAAATGCCGTGGCCTGGGCCCAGGCCCCCCAAGCAC
Celera SNP ID:            hCV25938988
SNP Position Transcript:  934
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1025, 37, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:6028):
TCTGTGGACGTGGACTGGCCCTGCTGGGGGTCCCCAGGGGGAGTTTCAGGCCCCAGACACGGGCAGGACCTCCAGCCCAGCCCCTGTCTTCTTCCTCTGT
R
GTGAACTGTACATAGGACGCTGCCCGCCCTGGCCCAGCTGCCATGGGTCCGATGCACTGGCCCAAGCCGCCATCTCCCGCCTCATACACCAGCAACCTGG
Celera SNP ID:            hCV25941706
SNP Position Transcript:  648
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1025, None



Context             (SEQ ID NO:6029):
CATCTTAGCCCCAGGGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGCTCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCC
R
GTCAGGTGGTGCGCTCCCGGTCACTAGGGGTGTACACGTGAAGTTGGGTGAACACCTGCTGCTCATGGTACCCAGTGATTCTTGCCCGAGTGGGCAGCTG
Celera SNP ID:            hCV29132969
SNP Position Transcript:  2349
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Context             (SEQ ID NO:6030):
AGCCAGCAGCAGCGACGCCATGTACCTGAGTACAGGTGGCAGTTGCAGAGCCGTGGGCTGTAGAAGGTCAGATGGGGCTTCCCACAGGGGAAATCTGGGC
R
TGCTGTAGCTCAGGGTGACTCCCAGCTCCGTCACTAGCAGGGCGACCCCCTTCCTTCTGGAGCCTTAGCTCTGAAAGCCCCCAGTGGGGGTGCCCTTTCA
Celera SNP ID:            hCV26475780
SNP Position Transcript:  2963
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1025, None   



Gene Number:                 117
Celera Gene:                 hCG2030155 - 145000147710222
Celera Transcript:           hCT2331047 - 145000147710223
Public Transcript Accession: NM_022747
Celera Protein:              hCP1867939 - 197000069391073
Public Protein Accession:    NP_073584
Gene Symbol:                 FLJ22558
Protein Name:                hypothetical protein FLJ22558;FLJ22558
Celera Genomic Axis:         GA_x5YUV32W0QP(46786661..46791081)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:329):
GTGGTCTGGAGAAAGCTGGGAGATGCAGCCAGCTCCAAGCCCTCCATACGGCAGCACCTGTCTGGGAACCAGTTCAAGGGGCCTTTGTAGGGCCACTCTT
CTGTGGACGTGGACTGGCCCTGCTGGGGGTCCCCAGGGGGAGTTTCAGGCCCCAGACACGGGCAGGACCTCCAGCCCAGCCCCTGTCTTCTTCCTCTGTR
GTGAACTGTACATAGGACGCTGCCCGCCCTGGCCCAGCTGCCATGGGTCCGATGCACTGGCCCAAGCCGCCATCTCCCGCCTCATACACCAGCAACCTGG
GAAGACGAGACGCTGCGACTGTTCCTGCAGCAGAGCGGCCCGGACGCCTCATTCCCCCTCTGGGCCCTGGGCTCCATGAGCAAGAGGCTGCAGGCTGCTT
CTGAGATCCAGCCTGGGAACTGTCCAGGCTCCTCTGTCCTGCCTGGGATGGAGGGGCCACTCATCAAACCCTCTACTCCCCGGCTRCCACCCACACTGGA
CAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCAAATGCCGTGGCCTGGSCCCAGGCCCCCCAAGCACTGGGTCCCCGGCAT
GTGGACAAGGCCACTCACCACATCTGTGGCTGGCTGGAGGCTGCCCTGGGCCCTTCCTGTGACCCTCAGCCTTGGAGGTCAGGGTGCCCTCACACCTGGG
GATCTGTGCTCAGCCACCCGATGCCCGCTGCTCCTTGCTTTTGGAGGTCATCCCCCTCCCCCCCAGTCTCTGCAATGTCCCCCTGCCACCCTGTCCAGGC
TATGCCCTTCTTGGGCTCCTCCTGCCCCATGCCTGAGGCACGTCCCTTTTCGTGGTTTACATGACAGGCCAGTAACAGGAAGGGCCTGGGGAGAGTTTCT
GGGCTGAGCCACATGTGATTTTCCTGATGGGCAGCACTGGGCCACAGCTGGGGCTCTGGTTGGCTGTGACCTCCCCCAGGGCCTGGCTGCATCTTGGGTC
CCTGTGGACAGAGCTGTGTAGGCTGCAGATGAGAGTTCTGTTCTTTTTGGGAAGGAGCGTGTCTGGCCAGGTTCTGCCTTTAGTTTGTGGTGTGACCTTT
AGCAGTTCACTCAGCCTGTCTGGGCTCTTGGTGGAAACAGGTCTCTGAGGTTCCTTTTCGGCCATGCTTATGGCTCCAGGTCATCCAGCGCCACAGGGCA
GGGGTCCTCACTGAGGGGGCGTGAGCCAACAGCCGACGGCTGAGGGCGGGCCGGGTGGAGCTGAGTTCTGCTGCCTTGCAGTCGCTGCGGGTGGAGAGTT
GCCTCCCCACTCTGAGCCCGTGTCCTCAGTAGTAAAATGGGCAGCATAAGGCCCTCCTCACAGGATTCTGGCATCAAGTGAGATCTTCAGTGTAAATGAC
CATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGGWDWGATCCCACAGCT
GCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGSTCCTCGTCAGACTCCTG
TGCTCTTCCAGGGGCTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCTTCCTACCCAGCAGGTCTCATGCAGGCCCAGGGCTGGGGATGCAGGCAA
GAGGAGGGAGATGGYCGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTGAGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCC
CATCTTAGCCCCARGGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGCTCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCC
RGTCAGGTGGTGCGCTCCCGGTCACTAGGGGTGTACACGTGAAGTTGGGTGAACACCTGCTGCTCATGGTACCCAGTGATTCTTGCCCGAGTGGGCAGCT
GAGCAGAGGCCCCTCTGGGTCTTGCAGTCCAAAGAACCGCAGAGTAGCCCAAGGGCTGTGGGTCCATTTTGAGTGGCAGCCAAGTCTGGGAGCCCGTGTG
CATCATGTTTGGGTCAGGTTGGCGTGGCCACCACTGAAATAAGCAATAAGTACGGGCTCCTGGTACCTGCGGATCTCCTGCAAACAGGCCCAGAGAACAG
CCTTGAAGCCACCTTTCCCCTCAAGGGGACTGACCCTGTCTTTAATGCTGCAGTGGCATCCAGGGATCAGTGGAACATTGCTTTGAGAACCCTCCTGCTG
TTACGGAGGCAGCACAAAGCTGGTGACCCCTGAGCCAACACGGCACTGGGATGGCTTTCTAGGACAGAACCCTGTCGGCGACTGTCACATCTCAAACTAA
TAGCTGATTTTAAAAGCCAGCAGCAGCGACGCCATGTACCTGAGTACAGGTGGCAGTTGCAGAGCCGTGGGCTGTAGAAGGTCAGATGGGGCTTCCCACA
GGGGAAATCTGGGCRTGCTGTAGCTCAGGGTGACTCCCAGCTCCGTCACTAGCAGGGCGACCCCCTTCCTTCTGGAGCCTTAGCTCTGAAAGCCCCCAGT
GGGGGTGCCCTTTCAGATGCCCCCTTTCCATTTCAAAGGCTCTGACTCTTGATCTTGAAGCCGGACGCGGCACTGGCACTCGGCTTCAGTTTCCACTGTG
ACAGATGGAGGTCTCCTTTCGCCCCAGCCCAGGTGGCCAAGCCCATCCTGGCCTCAGAACATGCTGAGCACATTTTGTAGGGTGGCACCTTTTTATCCAA
GTTACTAGCTACACATCAGTGTTTAAAGAGAAAAAAGTGACCTTTCATTTTTTTTTTCTTGAAACTTGAGGAAACAAGATACATACTACTGATTTTTTTT
TTTTCTTAAAACTAAATGCATGACTGCAGAGCGGTAGAGGTGTATATTTTTCATACTGTGGGGCAAAGTATTTGTGCTGCTTTTTGGAGATGGACTGGAA
CGTCTGGTTTCTGTCCCCGGGCCCGGCAGCTACGTCTATTTTCTGTAGAAGGTGCCACAGTGAGACCTGGAGCCACCCCTTCCTGCCCTGGCGCCGTTTA
GAGCTGGGAGCCCGTGGACTCCCGGCCTGTTTCTACCTTCTATTCAACCACTCTGACGTGGGGAGACAAGAAGAAATAGAACTTTTTKATAGTGTGGTAA
AAACATTGATTTGAACTATTTTAGTAAAAGGAGTAACAAACAAGATTGTGATAGTGTCTACTTTGAGCTAGATAAATAAAGGCCTCTTTGTGAGCCTCCT
GGCTGGGTGCTCAGTGCTTGTTTCTGTCGTGGGTGGCAGGGTCAGCAGGCAGAGACAGGGCCAAGGCCCCTCAAGCACCGCAGATGGGGGCTCAGTCGGG
GCCCCTTCCACAGACAGAGCCGTGGCCCCTCAAGGTGGACAGTGAGGCCGCTGCTCCTCCAGCTGCCTCTGTCTCATCACAGGCCAGAAGTGGAAAGGGT
TTCAAATCCAAGCCCCCGGGTTCCTGTGTGYGTTCTACGCAGCAAGGCTTCAAAGTTTCAAACTGGTTTGGAACTCAACCAGGTCCTCCAAAGGAAACCA
AGGCAGGCACAGGATGGGGGCAGGCTGGCTTGGCAGGCAGCTGTGCGGATCCACCCAGAGTGCCTTGGGAGGCAGTGGGGTTGGCTGTGGCTGCTGTGAG
CTGCAGCCAGGCCTCTCCCGCGTCCCCAGGGTCTGGAAGGAGGGCCTCTGCACATTTTATAAGCCACAGACTGCGAAGGCCTGGAGCCCCACCTTCCACC
CATAACAAAGAAAGGGATAGTTTCAGAACTGCTTTTATTTGGATAACTGACTGAAGGAGTCTCATTTGTAACCAAGATGGAATTCACAGTATGTTGTTAC
ATTCACACTTAAAAAATATATCTCTATGTACAGGAATTTGCAAAGAGATGTAAACATACATTAATTTCCAAGTACATTTCTCCCCTTCTCCCTGGAGGAA
AAAAAAAAAGCCATCCAATGAGGCAACCCCTTCAAAATAATTTTAATACAAAGGATGCAAACATCTATAAATGAAAAATGTGGTTCTTCTGCCCCTTCTG
GGTGTCATGGGAGAGAATGTCACCGAATGAAAATGACAACAGCTTGGCTTCAGATGGAATTGGACTATTTAAAATTGAGTTTCCAGGAAAAATAGGCACT
GATTTCTAGAAGGAAATTAACTCCTTACCGAAGCTATTTATTGAGCCAATATGGCTGGTTAACGTCCTCACTAKTATAAAGTAACCCAGTGCAGGACTCT
CAGACATTAGCTGAACCAAGTGTACACAGTCAGACTGCAAGGGCACTGATGAGGCTACTCTGAAAGCTGGTTGTCCCCGTCCTCTAGGTGTGAGGACCAC
TCTGATTTTATCCCAGGGGC

Protein Sequence    (SEQ ID NO:1026):
MSKRLQAASEIQPGNCPGSSVLPGMEGPLIKPSTPRLPPTLDRDHHYLGLDAGGTTSCPNAVAWAQAPQALGPRHVDKATHHICGWLEAALGPSCDPQPW
RSGCPHTWGSVLSHPMPAAPCFWRSSPSPPVSAMSPCHPVQAMPFLGSSCPMPEARPFSWFT


SNP Information

Context             (SEQ ID NO:6031):
AGGGGAGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAG
S
TCCTCGTCAGACTCCTGTGCTCTTCCAGGGGCTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCTTCCTACCCAGCAGGTCTCATGCAGGCCCAGG
Celera SNP ID:            hCV12062254
SNP Position Transcript:  1583
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6032):
CAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGGGG
W
GATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCCTC
Celera SNP ID:            hCV26475781
SNP Position Transcript:  1488
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,4)   total(A,4|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6033):
CAAGGTGGACAGTGAGGCCGCTGCTCCTCCAGCTGCCTCTGTCTCATCACAGGCCAGAAGTGGAAAGGGTTTCAAATCCAAGCCCCCGGGTTCCTGTGTG
Y
GTTCTACGCAGCAAGGCTTCAAAGTTTCAAACTGGTTTGGAACTCAACCAGGTCCTCCAAAGGAAACCAAGGCAGGCACAGGATGGGGGCAGGCTGGCTT
Celera SNP ID:            hCV25988912
SNP Position Transcript:  3531
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,2)   caucasian(C,37|T,1)   total(C,43|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None



Context             (SEQ ID NO:6034):
ACCCTCTACTCCCCGGCTGCCACCCACACTGGACAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCAAATGCCGTGGCCTGG
S
CCCAGGCCCCCCAAGCACTGGGTCCCCGGCATGTGGACAAGGCCACTCACCACATCTGTGGCTGGCTGGAGGCTGCCCTGGGCCCTTCCTGTGACCCTCA
Celera SNP ID:            hCV25939104
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(C,15|G,15)   caucasian(C,7|G,33)   total(C,22|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1026, 65, (P,CCC)   (A,GCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|G,6)      total(G,6|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1026, 65, (P,CCC)   (A,GCC)      



Context             (SEQ ID NO:6035):
CTGGCGCCGTTTAGAGCTGGGAGCCCGTGGACTCCCGGCCTGTTTCTACCTTCTATTCAACCACTCTGACGTGGGGAGACAAGAAGAAATAGAACTTTTT
K
ATAGTGTGGTAAAAACATTGATTTGAACTATTTTAGTAAAAGGAGTAACAAACAAGATTGTGATAGTGTCTACTTTGAGCTAGATAAATAAAGGCCTCTT
Celera SNP ID:            hCV26475779
SNP Position Transcript:  3188
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6036):
GCCGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTGAGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCCCATCTTAGCCCCA
R
GGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGCTCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCCGGTCAGGTGGTGCG
Celera SNP ID:            hCV29132970
SNP Position Transcript:  1814
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6037):
TTCAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGG
W
GAGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCC
Celera SNP ID:            hCV15793865
SNP Position Transcript:  1486
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6038):
TCAGTGTAAATGACCATGTATAAACTGTAAAGTGCAATAGAAAACTGTGTGTGTGAGGAAAGTAAGGCCTAGAGGGGGTGATGTGTGGCACATGACAGGG
D
AGATCCCACAGCTGCAGCACGGGGACAGGCCGCTTCCCCACATCCGCTCATGCCACTGTAAGCAGCCCTAGCTCTTGGGTCCAGGACCTCACCAGGTCCT
Celera SNP ID:            hCV15793866
SNP Position Transcript:  1487
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,4)      total(G,4|T,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6039):
ATTGAGTTTCCAGGAAAAATAGGCACTGATTTCTAGAAGGAAATTAACTCCTTACCGAAGCTATTTATTGAGCCAATATGGCTGGTTAACGTCCTCACTA
K
TATAAAGTAACCCAGTGCAGGACTCTCAGACATTAGCTGAACCAAGTGTACACAGTCAGACTGCAAGGGCACTGATGAGGCTACTCTGAAAGCTGGTTGT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  4274
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6040):
CTGCTCAGCCCCACCTGAAGAGCCCAGAGAGGCTGTCTTCCTACCCAGCAGGTCTCATGCAGGCCCAGGGCTGGGGATGCAGGCAAGAGGAGGGAGATGG
Y
CGCCCTGTCCCTCTCCCTAGCTGGCGGCTCTATTCTGAGCAGTTCTTGCTGCCCGTTTGCTCTCAGGGGAAAGGCTCACGCCCCCCATCTTAGCCCCAGG
Celera SNP ID:            hCV27920792
SNP Position Transcript:  1715
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6041):
GGCTGCAGGCTGCTTCTGAGATCCAGCCTGGGAACTGTCCAGGCTCCTCTGTCCTGCCTGGGATGGAGGGGCCACTCATCAAACCCTCTACTCCCCGGCT
R
CCACCCACACTGGACAGAGACCACCACTACCTGGGTCTTGACGCAGGTGGCACCACTTCTTGCCCAAATGCCGTGGCCTGGGCCCAGGCCCCCCAAGCAC
Celera SNP ID:            hCV25938988
SNP Position Transcript:  486
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1026, 37, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:6042):
TCTGTGGACGTGGACTGGCCCTGCTGGGGGTCCCCAGGGGGAGTTTCAGGCCCCAGACACGGGCAGGACCTCCAGCCCAGCCCCTGTCTTCTTCCTCTGT
R
GTGAACTGTACATAGGACGCTGCCCGCCCTGGCCCAGCTGCCATGGGTCCGATGCACTGGCCCAAGCCGCCATCTCCCGCCTCATACACCAGCAACCTGG
Celera SNP ID:            hCV25941706
SNP Position Transcript:  200
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1026, None



Context             (SEQ ID NO:6043):
CATCTTAGCCCCAGGGGGGTAAGTGGGTGCTGGTGATGGGATGGTGTGGCGCTCCTGCCGTGGGTGTTGCCAGGAGGCTCTTTGGGAAGGAGTGTCGCCC
R
GTCAGGTGGTGCGCTCCCGGTCACTAGGGGTGTACACGTGAAGTTGGGTGAACACCTGCTGCTCATGGTACCCAGTGATTCTTGCCCGAGTGGGCAGCTG
Celera SNP ID:            hCV29132969
SNP Position Transcript:  1901
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Context             (SEQ ID NO:6044):
AGCCAGCAGCAGCGACGCCATGTACCTGAGTACAGGTGGCAGTTGCAGAGCCGTGGGCTGTAGAAGGTCAGATGGGGCTTCCCACAGGGGAAATCTGGGC
R
TGCTGTAGCTCAGGGTGACTCCCAGCTCCGTCACTAGCAGGGCGACCCCCTTCCTTCTGGAGCCTTAGCTCTGAAAGCCCCCAGTGGGGGTGCCCTTTCA
Celera SNP ID:            hCV26475780
SNP Position Transcript:  2515
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,6)   total(G,6|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1026, None   



Gene Number:                 118
Celera Gene:                 hCG2031283 - 209000073886476
Celera Transcript:           hCT2332706 - 209000073886478
Public Transcript Accession: NM_015978
Celera Protein:              hCP1811365 - 209000073886487
Public Protein Accession:    NP_057062
Gene Symbol:                 CARK
Protein Name:                cardiac ankyrin repeat kinase
Celera Genomic Axis:         GA_x5YUV32W802(8629506..8938309)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:330):
ACTTGAACTTGGAATCTTATAACTTGAAGAACTGYCCTGGAGAAAGGAAGAAACTTATAATAAATGGGAAATTATAAATCTAGACCAACCCAAACTTGTA
CTGATGAATGGAAGAAAAAAGTCAGTGAATCATATGTTATCACAATAGAAAGATTAGAAGATGACCTGCAGATCAAGGAAAAAGAACTGACAGAACTAAG
GAATATATTTGGCTCTGATGAAGCCTTCAGTAAAGTCAATTTAAATTACCGCACTGAAAATGGGCTGTCTCTACTTCATTTATGTTGCATTTGTGGAGGC
AAGAAATCACATATTCGAACTCTTATGTTGAAAGGGCTCCGCCCATCTCGACTGACAAGAAATGGATTTACAGCCTTGCATTTAGCAGTTTACAAGGATA
ATGCAGAATTGATCACTTCTCTGCTTCACAGTGGAGCTGATATACAGCAGGTTGGATACGGTGGCCTCACTGCCCTCCATATTGCTACAATAGCTGGCCA
CCTAGAGGCTGCTGATGTGCTGTTGCAACATGGAGCTAATGTCAATATTCAAGATGCAGTTTTTTTCACTCCATTGCATATTGCAGCGTACTATGGACAT
GAACAGGTAACTCGCCTTCTTTTGAAATTTGGTGCTGATGTAAATGTAAGTGGTGAAGTTGGAGATAGACCCCTCCACCTAGCATCTGCAAAAGGATTCT
TGAATATTGCAAAACTCTTGATGGAAGAAGGCAGCAAAGCAGATGTGAATGCTCAAGATAATGAAGACCATGTCCCACTCCATTTCTGTTCTCGATTTGG
ACACCATGATATAGTTAAGTATCTGCTGCAAAGTGATTTGGAAGTTCAACCTCATGTTGTTAATATCTATGGAGATACCCCCTTACACCTGGCATGCTAC
AATGGCAAATTTGAAGTTGCCAAGGAAATCATCCAAATATCAGGAACAGAAAGTCTGACTAAGGAAAACATCTTCAGTGAAACAGCTTTTCATAGTGCTT
GTACCTATGGCAAGAGCATTGACCTAGTCAAATTTCTTCTTGATCAGAATGTCATAAACATCAACCACCAAGGAAGGGATGGGCACACTGGATTACACTC
TGCTTGCTACCACGGTCACATTCGCCTGGTTCAGTTCTTACTGGATAATGGAGCTGATATGAATCTAGTGGCTTGTGATCCCAGCAGGTCTAGTGGTGAA
AAAGATGAGCAGACATGTTTGATGTGGGCTTATGAAAAAGGGCATGATGCCATTGTCACACTCCTGAAGCATTATAAGAGACCACAAGATGAATTGCCCT
GTAATGAATATTCTCAGCCTGGAGGAGATGGCTCCTATGTGTCTGTTCCATCACCCTTGGGGAAGATTAAAAGCATGACAAAAGAGAAGGCAGATATTCT
CCTCCTAAGAGCTGGATTGCCTTCACATTTCCATCTTCAGCTCTCAGAAATTGAGTTCCATGAGATTATTGGCTCAGGTTCTTTTGGGAAAGTATATAAA
GGACGATGCAGAAATAAAATAGTGGCTATAAAACGTTATCGAGCCAATACCTACTGCTCCAAGTCAGATGTGGATATGTTTTGCCGAGAGGTGTCCATTC
TCTGCCAGCTCAATCATCCCTGCGTAATTCAGTTTGTGGGTGCTTGCTTGAATGATCCCAGCCAGTTTGCCATTGTCACTCAATACATATCAGGGGGTTC
TCTGTTCTCCCTCCTTCATGAGCAGAAGAGGATTCTTGATTTGCAGTCTAAATTAATTATTGCAGTAGATGTTGCCAAAGGCATGGAGTACCTTCACAAC
CTGACACAGCCAATTATACATCGTGACTTGAACAGTCACAATATTCTTCTCTATGAGGATGGGCATGCTGTGGTGGCAGATTTTGGAGAATCAAGATTTC
TACAGTCTCTGGATGAAGACAACATGACAAAACAACCTGGGAACCTCCGTTGGATGGCTCCTGAGGTGTTCAYGCAGTGCACTCGGTACACCATCAAAGC
AGATGTCTTCAGCTATGCTCTGTGTCTGTGGGAAATTCTCACTGGCGAAATTCCATTCGCTCATCTCAAGCCAGCGGCTGCGGCAGCAGACATGGCTTAC
CACCACATCAGACCTCCCAYTGGCTATTCCATTCCCAAGCCCATATCATCTCTGCTGATACGAGGGTGGAACGCATGTCCTGAAGGAAGACCCGAATTTT
CTGAAGTTGTCATGAAGTTAGAAGAGTGTCTCTGCAACATTGAGCTGATGTCTCCTGCATCAAGTAACAGCAGTGGGTCTCTCTCACCTTCTTCTTCTTC
TGATTGCCTGGTGAACCGGGGAGGACCTGGCCGGAGTCATGTGGCAGCATTAAGAAGTCGTTTCGAATTGGAATATGCTCTAAATGCAAGGTCCTATGCT
GCTTTGTCCCAAAGTGCTGGACAATATTCCTCTCAAGGTCTGTCTTTGGAGGAGATGAAAAGAAGTCTTCAATACACACCCATTGACAAATATGGCTATG
TATCCGATCCCATGAGCTCAATGCATTTTCATTCTTGCCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGACAGCATTCGGCGTATACCTAAGGAGAGTT
TTYYCCCCGAACTGACAGCAACGATTCCAACCACGGCAAGCTGGCTTCCAACTATAACATTTTACTCTCAAAGGTCTCCTTAAATTGGGCTTGTTTTTAC
TTGTCCTATTTAATTCCCCACTATTAGCAGGCTTTGGATTTGTGCCTAAGGAATAATATGCAAAAGAACCAAGACAGAATGTATATGAAGAATTGTTTTT
AATTTTGTAAATTAAAAAAAAATTTAGATCGTTACTTGGAAATGGAGCCTAAGTCTGTGGTGGACAGATAATAATTATGTTTTCCTGGGCTGAATTATGT
AGACTTGTGTTTGACAGCTATGGGTTTATTTCTTAGAACATTGTTCATTTTCTTTTCTCATTATGTTACTTCTAGTGTTCACCTCTGTGATTAAAGATTC
TTTGGTGAAATAGAAAA

Protein Sequence    (SEQ ID NO:1027):
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRN
GFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVG
DRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTK
ENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTL
LKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSK
SDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDG
HAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIR
GWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKR
SLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS


SNP Information

Context             (SEQ ID NO:6045):
TCCGATCCCATGAGCTCAATGCATTTTCATTCTTGCCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGACAGCATTCGGCGTATACCTAAGGAGAGTTTT
Y
TCCCCGAACTGACAGCAACGATTCCAACCACGGCAAGCTGGCTTCCAACTATAACATTTTACTCTCAAAGGTCTCCTTAAATTGGGCTTGTTTTTACTTG
Celera SNP ID:            hCV25601062
SNP Position Transcript:  2603
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,38)   total(C,1|T,69)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1027, None



Context             (SEQ ID NO:6046):
GTGGCAGATTTTGGAGAATCAAGATTTCTACAGTCTCTGGATGAAGACAACATGACAAAACAACCTGGGAACCTCCGTTGGATGGCTCCTGAGGTGTTCA
Y
GCAGTGCACTCGGTACACCATCAAAGCAGATGTCTTCAGCTATGCTCTGTGTCTGTGGGAAATTCTCACTGGCGAAATTCCATTCGCTCATCTCAAGCCA
Celera SNP ID:            hCV16181264
SNP Position Transcript:  1973
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,88|C,1397)   total(C,1397|T,88) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1027, 637, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:6047):
ACTTGAACTTGGAATCTTATAACTTGAAGAACTG
Y
CCTGGAGAAAGGAAGAAACTTATAATAAATGGGAAATTATAAATCTAGACCAACCCAAACTTGTACTGATGAATGGAAGAAAAAAGTCAGTGAATCATAT
Celera SNP ID:            hCV25601042
SNP Position Transcript:  35
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1027, None



Context             (SEQ ID NO:6048):
CCGATCCCATGAGCTCAATGCATTTTCATTCTTGCCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGACAGCATTCGGCGTATACCTAAGGAGAGTTTTT
Y
CCCCGAACTGACAGCAACGATTCCAACCACGGCAAGCTGGCTTCCAACTATAACATTTTACTCTCAAAGGTCTCCTTAAATTGGGCTTGTTTTTACTTGT
Celera SNP ID:            hCV25601066
SNP Position Transcript:  2604
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,30)   caucasian(T,38)   total(C,8|T,68)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1027, None



Context             (SEQ ID NO:6049):
CTGTGTCTGTGGGAAATTCTCACTGGCGAAATTCCATTCGCTCATCTCAAGCCAGCGGCTGCGGCAGCAGACATGGCTTACCACCACATCAGACCTCCCA
Y
TGGCTATTCCATTCCCAAGCCCATATCATCTCTGCTGATACGAGGGTGGAACGCATGTCCTGAAGGAAGACCCGAATTTTCTGAAGTTGTCATGAAGTTA
Celera SNP ID:            hCV27474081
SNP Position Transcript:  2120
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,45|T,1238)   total(C,45|T,1238) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1027, 686, (T,ACT)   (I,ATT)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333178 - 146000220801684
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810057 - 197000064952698
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..33027132)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:331):
TAACGCTGAATTGGCTTCTGGTACAGTCCATCTGGACTCTGTGTGGGAAAGCTGGCTGCCGGCGACTGATGCTGAGATATCTGCAACCTTTGGGATGTGT
GCATGGTGGCAAGGGGCTGACTGATATGAGATTACTTCTTTTAAGGGAAATTGTCATTAATGAGTCAAGAAACTGCTCATTTATGATAATTAGCACCATG
GAGCCTCAGGTGTCAAATGGTCCGACATCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAACAGGGGCAACCACAG
ATGACAGCAAAACCAACCTCATCGTCAACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGGTGAAATAGAATCCTG
CAAACTTGTGAGAGACAAAATTACAGGACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAAGCCATCAACACTTTAAAT
GGACTCAGACTCCAGACCAAAACCATAAAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTAGCGGCCTTCCCAAAA
CCATGACCCAGAAGGAACTGGAGCAACTTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCACAGGAGTGTCCAGAGGGGT
GGGATTCATCCGCTTTGATAAGAGGATTGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAG
TTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTC
AGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACAT
CCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAACCTGTCCCCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCA
GTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACAAGTGCAAGGGATTCGGCTTTGTCACCATGACCAACTATGATGAGGCGGCCATGGCCATCG
CCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCAAGTTTCCTTTAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCATTCTTACTTACTAAA
ATATATATAGAAATATATACGAACAAAACACACGCGCGCACACACACACATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCTTATATTCAACCATGG
ACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAARAAAAAAAAAAA
ACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTTACCCAGCCAGC
TAACTTTACTACCTTCCTTGAAGGTGGATCTTTTTAAGATGACCATTCGCTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAATAATAAAAATAAAACA
ATTTTTACAAAGTAATGGGATTCAAAGAAAGGAAAAAAAGATTTTTCTTTTTTGTCAAAATATCGATCCAATCAGATTGGTAAAAACCCCCACACAAATT
AAAGAGGAATAATAAAAATTGCAAAAATAAAAAAAAACTTTTGCAAATTTTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAACTAAAACAGTCTTCT
GTTAGGGGATGGGGGCAAGGGGGATACCTGATGACATTAACAATTTAATAACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTGCTGAAAATGGGTTTC
AAGAAAAATCTATTTTTATAAAATATAAAGAATTTTTACAAGAGAATCTGGATTTGAGAAAAAAATATTTTGACTGGCTAATTTAGGGGAAATTGACAAC
TTTGTCGCGTTCATACTGCACTGGTAACTTTTTAGAGATCAAGATGTGTGTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGATGGGCTATAAACAGA
TGATCTTCATATCTTTTCATAGCATGTAATAATAATTAAAAAACAATTATTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCAGGGTACCACAGTTCC
CCACAGTCAAAACCCAAAAGCAAGGAGATGAGTTGAAAGACAGTTTTTCTTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAAATTAAAAAGATTAAT
TTTCCTTTTGATCTAAAACTTCCTTAGTTTGAGCAGTAGGTGCTACAAAATTATTTACATATCTTAGTATCATAGTTAAATGTAATGTGTTTAGGAGAGG
AAAACAAAAGATACATTTGCTTTAAATTCATTAAGAAATTTTCAAATTCACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTTGGTACATTTGAAACA
CTGTTTATGTTGCTTGAAACACTTATTTATTTAATCGCCGATGTGATGATGCCTATGGCCGAGATCAAATATAGCTAGATTGGCTAGACTACTTATTTGT
TTACTTAAACTATGGGAAGAAGCATATTATTGTGTCATTCTGTTGTGTGTGTATGTGTATATACAATATAAATATATATATATAAAGTTATTTTTTCTTT
GGGTTAATTTATTATAAGTTGTAACACTTGGCTA

Protein Sequence    (SEQ ID NO:1028):
MLRYLQPLGCVHGGKGLTDMRLLLLREIVINESRNCSFMIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRS
LFGSIGEIESCKLVRDKITGQSLGYGFVNYIDPKDAEKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRIL
VDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPSGATEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRFSPITI
DGMTSLVGMNIPGHTGTGWCIFVYNLSPDSDESVLWQLFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAH
KS


SNP Information

Context             (SEQ ID NO:6050):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1489
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1028, None   



Context             (SEQ ID NO:6051):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGGTTCTCCCCAATTA
Celera SNP ID:            hCV25473559
SNP Position Transcript:  863
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1028, 265, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1028, 265, (P,CCC)   (P,CCT)      265, (P,CCT)   (P,CCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333176 - 146000220801661
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810055 - 197000064952696
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..33085280)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:332):
CAGCCTCCGCAGCCTCGGGCCGGATCGCCCGGCGGGGAAGATGCGCCTCAAGAACCAGATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACA
TCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAACAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCA
ACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGGTGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGG
ACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAAGCCATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATA
AAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTAGCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAAC
TTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCACAGGAGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGAT
TGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCC
AGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTA
ATATGGCCTATGGCGTAAAGAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTG
CATCTTTGTCTACAACCTGTCCCCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGAC
TTCAACACCAACAAGTGCAAGGGATTCGGCTTTGTCACCATGACCAACTATGATGAGGCGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAG
ACAGAGTGTTGCAAGTTTCCTTTAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCATTCTTACTTACTAAAATATATATAGAAATATATACGAACAAA
ACACACGCGCGCACACACACACATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCTTATATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTA
TTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAARAAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAAT
GTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTTACCCAGCCAGCTAACTTTACTACCTTCCTTGAAGGTGG
ATCTTTTTAAGATGACCATTCGCTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAATAATAAAAATAAAACAATTTTTACAAAGTAATGGGATTCAAAG
AAAGGAAAAAAAGATTTTTCTTTTTTGTCAAAATATCGATCCAATCAGATTGGTAAAAACCCCCACACAAATTAAAGAGGAATAATAAAAATTGCAAAAA
TAAAAAAAAACTTTTGCAAATTTTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAACTAAAACAGTCTTCTGTTAGGGGATGGGGGCAAGGGGGATAC
CTGATGACATTAACAATTTAATAACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTGCTGAAAATGGGTTTCAAGAAAAATCTATTTTTATAAAATATA
AAGAATTTTTACAAGAGAATCTGGATTTGAGAAAAAAATATTTTGACTGGCTAATTTAGGGGAAATTGACAACTTTGTCGCGTTCATACTGCACTGGTAA
CTTTTTAGAGATCAAGATGTGTGTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGATGGGCTATAAACAGATGATCTTCATATCTTTTCATAGCATGT
AATAATAATTAAAAAACAATTATTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCAGGGTACCACAGTTCCCCACAGTCAAAACCCAAAAGCAAGGAG
ATGAGTTGAAAGACAGTTTTTCTTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAAATTAAAAAGATTAATTTTCCTTTTGATCTAAAACTTCCTTAG
TTTGAGCAGTAGGTGCTACAAAATTATTTACATATCTTAGTATCATAGTTAAATGTAATGTGTTTAGGAGAGGAAAACAAAAGATACATTTGCTTTAAAT
TCATTAAGAAATTTTCAAATTCACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTTGGTACATTTGAAACACTGTTTATGTTGCTTGAAACACTTATT
TATTTAATCGCCGATGTGATGATGCCTATGGCCGAGATCAAATATAGCTAGATTGGCTAGACTACTTATTTGTTTACTTAAACTATGGGAAGAAGCATAT
TATTGTGTCATTCTGTTGTGTGTGTATGTGTATATACAATATAAATATATATATATAAAGTTATTTTTTCTTTGGGTTAATTTATTATAAGTTGTAACAC
TTGGCTA

Protein Sequence    (SEQ ID NO:1029):
MRLKNQIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDP
KDAEKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQK
PSGATEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRFSPITIDGMTSLVGMNIPGHTGTGWCIFVYNLSPDSDES
VLWQLFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6052):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1029, None   



Context             (SEQ ID NO:6053):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGGTTCTCCCCAATTA
Celera SNP ID:            hCV25473559
SNP Position Transcript:  736
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1029, 232, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1029, 232, (P,CCC)   (P,CCT)      232, (P,CCT)   (P,CCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333181 - 146000220801695
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810058 - 197000064952699
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..33024245)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:333):
ACAATAGTAGTCATTTTAAATATATATTCTGAAATCTTTGCAAATTTTAACAGAAGAGTCGAAGCTCTGCGAGACCCAATATTTGCCAATAAGAATGGTT
ATGATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACATCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGC
AAACAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCAACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCAT
TGGTGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGGACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAA
GCCATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATAAAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATG
TTAGCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAACTTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCAC
AGGAGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGATTGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACG
GAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTC
CACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTG
TYCCCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTAC
AACCTGTCCCCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACA
AGTGCAAGGGATTCGGCTTTGTCACCATGACCAACTATGATGAGGCGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCA
AGTTTCCTTTAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCATTCTTACTTACTAAAATATATATAGAAATATATACGAACAAAACACACGCGCGCA
CACACACACATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCTTATATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGA
TTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAARAAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGC
TGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTTACCCAGCCAGCTAACTTTACTACCTTCCTTGAAGGTGGATCTTTTTAAGAT
GACCATTCGCTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAATAATAAAAATAAAACAATTTTTACAAAGTAATGGGATTCAAAGAAAGGAAAAAAAG
ATTTTTCTTTTTTGTCAAAATATCGATCCAATCAGATTGGTAAAAACCCCCACACAAATTAAAGAGGAATAATAAAAATTGCAAAAATAAAAAAAAACTT
TTGCAAATTTTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAACTAAAACAGTCTTCTGTTAGGGGATGGGGGCAAGGGGGATACCTGATGACATTAA
CAATTTAATAACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTGCTGAAAATGGGTTTCAAGAAAAATCTATTTTTATAAAATATAAAGAATTTTTACA
AGAGAATCTGGATTTGAGAAAAAAATATTTTGACTGGCTAATTTAGGGGAAATTGACAACTTTGTCGCGTTCATACTGCACTGGTAACTTTTTAGAGATC
AAGATGTGTGTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGATGGGCTATAAACAGATGATCTTCATATCTTTTCATAGCATGTAATAATAATTAAA
AAACAATTATTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCAGGGTACCACAGTTCCCCACAGTCAAAACCCAAAAGCAAGGAGATGAGTTGAAAGA
CAGTTTTTCTTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAAATTAAAAAGATTAATTTTCCTTTTGATCTAAAACTTCCTTAGTTTGAGCAGTAGG
TGCTACAAAATTATTTACATATCTTAGTATCATAGTTAAATGTAATGTGTTTAGGAGAGGAAAACAAAAGATACATTTGCTTTAAATTCATTAAGAAATT
TTCAAATTCACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTTGGTACATTTGAAACACTGTTTATGTTGCTTGAAACACTTATTTATTTAATCGCCG
ATGTGATGATGCCTATGGCCGAGATCAAATATAGCTAGATTGGCTAGACTACTTATTTGTTTACTTAAACTATGGGAAGAAGCATATTATTGTGTCATTC
TGTTGTGTGTGTATGTGTATATACAATATAAATATATATATATAAAGTTATTTTTTCTTTGGGTTAATTTATTATAAGTTGTAACACTTGGCTA

Protein Sequence    (SEQ ID NO:1030):
MVMIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDPKDA
EKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPSG
ATEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRLMSGPVPPSACSPRFSPITIDGMTSLVGMNIPGHTGTGWCIF
VYNLSPDSDESVLWQLFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6054):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1449
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1030, None   



Context             (SEQ ID NO:6055):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGAC
Celera SNP ID:            hCV25473559
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1030, 229, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1030, 229, (P,CCC)   (P,CCT)      229, (P,CCT)   (P,CCC)      



Context             (SEQ ID NO:6056):
ACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTGT
Y
CCCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAA
Celera SNP ID:            hCV15886649
SNP Position Transcript:  902
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1030, 270, (P,CCC)   (S,TCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333179 - 146000220801672
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810056 - 197000064952697
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..33023525)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:334):
TGGCGTGTTGAGTTGTTGCTTCCTTCTCTGGGCAGCAGCTCTGTAAGAAGGAATGTCAGCTTTTACATAACGTTCCTTTCCGCTTTTGACACACTGTGTG
AGGGTCCATCTTCTTCTGATCACAGATGGAGTGGAATGGCTTGAAGATGCCTTCTAGAATCCTAAAGTTGACCTGAAGCCAAGAAGAAAATTCTGGTGAT
GGGAGAAGTGGAGCCACTTAAATTACTTACATGATGATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACATCCAATACAAGCAATGGACCCT
CCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAACAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCAACTATTTACCCCAGAATATGAC
CCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGGTGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGGACAGAGTTTAGGGTATGGATTT
GTTAACTATATTGATCCAAAGGATGCAGAGAAAGCCATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATAAAGGTCTCATATGCCCGTCCGA
GCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTAGCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAACTTTTCTCGCAATACGGCCGTAT
CATCACCTCACGAATCCTGGTTGATCAAGTCACAGGAGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGATTGAGGCAGAAGAAGCCATCAAA
GGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGC
TCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAG
GTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAACCTGTCC
CCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACAAGTGCAAGG
GATTCGGCTTTGTCACCATGACCAACTATGATGAGGCGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCAAGTTTCCTT
TAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCATTCTTACTTACTAAAATATATATAGAAATATATACGAACAAAACACACGCGCGCACACACACAC
ATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCTTATATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGA
GGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAARAAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGT
TGAATATAATATACATAGATAGCGATGTGCAGGGATTTTTACCCAGCCAGCTAACTTTACTACCTTCCTTGAAGGTGGATCTTTTTAAGATGACCATTCG
CTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAATAATAAAAATAAAACAATTTTTACAAAGTAATGGGATTCAAAGAAAGGAAAAAAAGATTTTTCTT
TTTTGTCAAAATATCGATCCAATCAGATTGGTAAAAACCCCCACACAAATTAAAGAGGAATAATAAAAATTGCAAAAATAAAAAAAAACTTTTGCAAATT
TTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAACTAAAACAGTCTTCTGTTAGGGGATGGGGGCAAGGGGGATACCTGATGACATTAACAATTTAAT
AACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTGCTGAAAATGGGTTTCAAGAAAAATCTATTTTTATAAAATATAAAGAATTTTTACAAGAGAATCT
GGATTTGAGAAAAAAATATTTTGACTGGCTAATTTAGGGGAAATTGACAACTTTGTCGCGTTCATACTGCACTGGTAACTTTTTAGAGATCAAGATGTGT
GTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGATGGGCTATAAACAGATGATCTTCATATCTTTTCATAGCATGTAATAATAATTAAAAAACAATTA
TTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCAGGGTACCACAGTTCCCCACAGTCAAAACCCAAAAGCAAGGAGATGAGTTGAAAGACAGTTTTTC
TTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAAATTAAAAAGATTAATTTTCCTTTTGATCTAAAACTTCCTTAGTTTGAGCAGTAGGTGCTACAAA
ATTATTTACATATCTTAGTATCATAGTTAAATGTAATGTGTTTAGGAGAGGAAAACAAAAGATACATTTGCTTTAAATTCATTAAGAAATTTTCAAATTC
ACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTTGGTACATTTGAAACACTGTTTATGTTGCTTGAAACACTTATTTATTTAATCGCCGATGTGATGA
TGCCTATGGCCGAGATCAAATATAGCTAGATTGGCTAGACTACTTATTTGTTTACTTAAACTATGGGAAGAAGCATATTATTGTGTCATTCTGTTGTGTG
TGTATGTGTATATACAATATAAATATATATATATAAAGTTATTTTTTCTTTGGGTTAATTTATTATAAGTTGTAACACTTGGCTA

Protein Sequence    (SEQ ID NO:1031):
MMIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDPKDAE
KAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPSGA
TEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRFSPITIDGMTSLVGMNIPGHTGTGWCIFVYNLSPDSDESVLWQ
LFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6057):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1540
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1031, None   



Context             (SEQ ID NO:6058):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGGTTCTCCCCAATTA
Celera SNP ID:            hCV25473559
SNP Position Transcript:  914
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1031, 228, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1031, 228, (P,CCC)   (P,CCT)      228, (P,CCT)   (P,CCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333180 - 146000220801640
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810053 - 197000064952694
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..32988377)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:335):
ATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACATCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAA
CAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCAACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGG
TGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGGACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAAGCC
ATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATAAAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTA
GCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAACTTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCACAGG
AGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGATTGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAA
CCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCAC
TTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTGTYC
CCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAAC
CTGTCCCCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACAAGT
GCAAGGGATTCGGCTTTGTCACCATGACCAACTATGATGAGGCGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCAAGT
TTCCTTTAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCATTCTTACTTACTAAAATATATATAGAAATATATACGAACAAAACACACGCGCGCACAC
ACACACATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCTTATATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTA
TCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAARAAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGT
CGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTTACCCAGCCAGCTAACTTTACTACCTTCCTTGAAGGTGGATCTTTTTAAGATGAC
CATTCGCTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAATAATAAAAATAAAACAATTTTTACAAAGTAATGGGATTCAAAGAAAGGAAAAAAAGATT
TTTCTTTTTTGTCAAAATATCGATCCAATCAGATTGGTAAAAACCCCCACACAAATTAAAGAGGAATAATAAAAATTGCAAAAATAAAAAAAAACTTTTG
CAAATTTTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAACTAAAACAGTCTTCTGTTAGGGGATGGGGGCAAGGGGGATACCTGATGACATTAACAA
TTTAATAACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTGCTGAAAATGGGTTTCAAGAAAAATCTATTTTTATAAAATATAAAGAATTTTTACAAGA
GAATCTGGATTTGAGAAAAAAATATTTTGACTGGCTAATTTAGGGGAAATTGACAACTTTGTCGCGTTCATACTGCACTGGTAACTTTTTAGAGATCAAG
ATGTGTGTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGATGGGCTATAAACAGATGATCTTCATATCTTTTCATAGCATGTAATAATAATTAAAAAA
CAATTATTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCAGGGTACCACAGTTCCCCACAGTCAAAACCCAAAAGCAAGGAGATGAGTTGAAAGACAG
TTTTTCTTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAAATTAAAAAGATTAATTTTCCTTTTGATCTAAAACTTCCTTAGTTTGAGCAGTAGGTGC
TACAAAATTATTTACATATCTTAGTATCATAGTTAAATGTAATGTGTTTAGGAGAGGAAAACAAAAGATACATTTGCTTTAAATTCATTAAGAAATTTTC
AAATTCACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTTGGTACATTTGAAACACTGTTTATGTTGCTTGAAACACTTATTTATTTAATCGCCGATG
TGATGATGCCTATGGCCGAGATCAAATATAGCTAGATTGGCTAGACTACTTATTTGTTTACTTAAACTATGGGAAGAAGCATATTATTGTGTCATTCTGT
TGTGTGTGTATGTGTATATACAATATAAATATATATATATAAAGTTATTTTTTCTTTGGGTTAATTTATTATAAGTTGTAACACTTGGCTA

Protein Sequence    (SEQ ID NO:1032):
MEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDPKDAEKAINTL
NGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPSGATEPITV
KFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRLMSGPVPPSACSPRFSPITIDGMTSLVGMNIPGHTGTGWCIFVYNLSPD
SDESVLWQLFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6059):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1346
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1032, None   



Context             (SEQ ID NO:6060):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGAC
Celera SNP ID:            hCV25473559
SNP Position Transcript:  678
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1032, 222, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1032, 222, (P,CCC)   (P,CCT)      222, (P,CCT)   (P,CCC)      



Context             (SEQ ID NO:6061):
ACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTGT
Y
CCCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAA
Celera SNP ID:            hCV15886649
SNP Position Transcript:  799
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1032, 263, (P,CCC)   (S,TCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333177 - 146000220801706
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810059 - 197000064952700
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32932150..33085280)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:336):
CAGCCTCCGCAGCCTCGGGCCGGATCGCCCGGCGGGGAAGATGCGCCTCAAGAACCAGATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACA
TCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAACAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCA
ACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGGTGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGG
ACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAAGCCATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATA
AAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTAGCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAAC
TTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCACAGGAGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGAT
TGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCC
AGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGTTCTCCCCAATTACCA
TTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAACCTGTCCCCCGATTCCGATGAGAG
TGTCCTCTGGCAGCTCTTTGGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACAAGTGCAAGGGATTCGGCTTTGTCACC
ATGACCAACTATGATGAGGCGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCAAGTTTCCTTTAAAACCAACAAAGCCC
ACAAGTCC

Protein Sequence    (SEQ ID NO:1033):
MRLKNQIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDP
KDAEKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQK
PSGATEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRFSPITIDGMTSLVGMNIPGHTGTGWCIFVYNLSPDSDESVLWQLFGPFGAVN
NVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6062):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCC
Celera SNP ID:            hCV25473559
SNP Position Transcript:  736
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1033, 232, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1033, 232, (P,CCC)   (P,CCT)      232, (P,CCT)   (P,CCC)      



Gene Number:                 119
Celera Gene:                 hCG2031550 - 146000220801639
Celera Transcript:           hCT2333175 - 146000220801650
Public Transcript Accession: NM_021952
Celera Protein:              hCP1810054 - 197000064952695
Public Protein Accession:    NP_068771
Gene Symbol:                 ELAVL4
Protein Name:                ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);HUD;PNEM
Celera Genomic Axis:         GA_x5YUV32W802(32930590..33085280)
Chromosome:                  Chr1
OMIM number:                 168360
OMIM Information:            EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4;ELAVL4


Transcript Sequence (SEQ ID NO:337):
CAGCCTCCGCAGCCTCGGGCCGGATCGCCCGGCGGGGAAGATGCGCCTCAAGAACCAGATAATTAGCACCATGGAGCCTCAGGTGTCAAATGGTCCGACA
TCCAATACAAGCAATGGACCCTCCAGCAACAACAGAAACTGTCCTTCTCCCATGCAAACAGGGGCAACCACAGATGACAGCAAAACCAACCTCATCGTCA
ACTATTTACCCCAGAATATGACCCAAGAAGAATTCAGGAGTCTCTTCGGGAGCATTGGTGAAATAGAATCCTGCAAACTTGTGAGAGACAAAATTACAGG
ACAGAGTTTAGGGTATGGATTTGTTAACTATATTGATCCAAAGGATGCAGAGAAAGCCATCAACACTTTAAATGGACTCAGACTCCAGACCAAAACCATA
AAGGTCTCATATGCCCGTCCGAGCTCTGCCTCAATCAGGGATGCTAACCTCTATGTTAGCGGCCTTCCCAAAACCATGACCCAGAAGGAACTGGAGCAAC
TTTTCTCGCAATACGGCCGTATCATCACCTCACGAATCCTGGTTGATCAAGTCACAGGAGTGTCCAGAGGGGTGGGATTCATCCGCTTTGATAAGAGGAT
TGAGGCAGAAGAAGCCATCAAAGGGCTGAATGGCCAGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCC
AGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCCYAACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTA
ATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTGTYCCCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCT
TGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAACCTGTCCCCCGATTCCGATGAGAGTGTCCTCTGGCAGCTCTTT
GGCCCCTTTGGAGCAGTGAACAACGTAAAGGTGATTCGTGACTTCAACACCAACAAGTGCAAGGGATTCGGCTTTGTCACCATGACCAACTATGATGAGG
CGGCCATGGCCATCGCCAGCCTCAACGGGTACCGCCTGGGAGACAGAGTGTTGCAAGTTTCCTTTAAAACCAACAAAGCCCACAAGTCCTGAATTTCCCA
TTCTTACTTACTAAAATATATATAGAAATATATACGAACAAAACACACGCGCGCACACACACACATACACGAAAGAGAGAGAAACAAACTTTTCAAGGCT
TATATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAA
AAARAAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGAT
TTTTACCCAGCCAGCTAACTTTACTACCTTCCTTGAAGGTGGATCTTTTTAAGATGACCATTCGCTCATTTGAAGAAGAAAAACAAAAAACAAAAAAAAT
AATAAAAATAAAACAATTTTTACAAAGTAATGGGATTCAAAGAAAGGAAAAAAAGATTTTTCTTTTTTGTCAAAATATCGATCCAATCAGATTGGTAAAA
ACCCCCACACAAATTAAAGAGGAATAATAAAAATTGCAAAAATAAAAAAAAACTTTTGCAAATTTTTTTATTTTTCCTTCTTTCTTTTATATCATGTGAA
CTAAAACAGTCTTCTGTTAGGGGATGGGGGCAAGGGGGATACCTGATGACATTAACAATTTAATAACATTAACATTGTTGCCAAAGAGGTGGTCTCTTTG
CTGAAAATGGGTTTCAAGAAAAATCTATTTTTATAAAATATAAAGAATTTTTACAAGAGAATCTGGATTTGAGAAAAAAATATTTTGACTGGCTAATTTA
GGGGAAATTGACAACTTTGTCGCGTTCATACTGCACTGGTAACTTTTTAGAGATCAAGATGTGTGTTTTAAACTGGATTCGTAGACTGTTTTTTGAAGGA
TGGGCTATAAACAGATGATCTTCATATCTTTTCATAGCATGTAATAATAATTAAAAAACAATTATTAATTACTAGGGGAAAGGAGTGTTCGTTCTACCCA
GGGTACCACAGTTCCCCACAGTCAAAACCCAAAAGCAAGGAGATGAGTTGAAAGACAGTTTTTCTTTAAGTCATCAGTATGGGATGTCAGCAGAACAAAA
ATTAAAAAGATTAATTTTCCTTTTGATCTAAAACTTCCTTAGTTTGAGCAGTAGGTGCTACAAAATTATTTACATATCTTAGTATCATAGTTAAATGTAA
TGTGTTTAGGAGAGGAAAACAAAAGATACATTTGCTTTAAATTCATTAAGAAATTTTCAAATTCACTTTGTAGCCCATGCTGATAGAATTGGGCTGTGTT
GGTACATTTGAAACACTGTTTATGTTGCTTGAAACACTTATTTATTTAATCGCCGATGTGATGATGCCTATGGCCGAGATCAAATATAGCTAGATTGGCT
AGACTACTTATTTGTTTACTTAAACTATGGGAAGAAGCATATTATTGTGTCATTCTGTTGTGTGTGTATGTGTATATACAATATAAATATATATATATAA
AGTTATTTTTTCTTTGGGTTAATTTATTATAAGTTGTAACACTTGGCTA

Protein Sequence    (SEQ ID NO:1034):
MRLKNQIISTMEPQVSNGPTSNTSNGPSSNNRNCPSPMQTGATTDDSKTNLIVNYLPQNMTQEEFRSLFGSIGEIESCKLVRDKITGQSLGYGFVNYIDP
KDAEKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQK
PSGATEPITVKFANNPSQKSSQALLSQLYQSPNRRYPGPLHHQAQRFRLDNLLNMAYGVKRLMSGPVPPSACSPRFSPITIDGMTSLVGMNIPGHTGTGW
CIFVYNLSPDSDESVLWQLFGPFGAVNNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKAHKS


SNP Information

Context             (SEQ ID NO:6063):
ATTCAACCATGGACTTTATAAGCCAGTGTTGCCTAAGTATTAAAACATTGGATTATCCTGAGGTGTACCAGGAAAGGATTTTATAATGCTTAGAAAAAAA
R
AAAAAAAAAAAACAAAAAATACCTTTGATGCATTGAATGTTCTTTCATAGCTGTCGTTGTTGAATATAATATACATAGATAGCGATGTGCAGGGATTTTT
Celera SNP ID:            hCV16006913
SNP Position Transcript:  1404
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1034, None   



Context             (SEQ ID NO:6064):
AGAAGCCCAGCGGTGCTACGGAACCGATTACTGTGAAGTTTGCCAACAACCCCAGCCAGAAGTCCAGCCAGGCCCTGCTCTCCCAGCTCTACCAGTCCCC
Y
AACCGGCGCTACCCAGGTCCACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGAC
Celera SNP ID:            hCV25473559
SNP Position Transcript:  736
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,17)   caucasian(C,1|T,25)   total(C,12|T,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1034, 232, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1034, 232, (P,CCC)   (P,CCT)      232, (P,CCT)   (P,CCC)      



Context             (SEQ ID NO:6065):
ACTTCACCACCAGGCTCAGAGGTTCAGGCTGGACAATTTGCTTAATATGGCCTATGGCGTAAAGAGACTGATGTCTGGACCAGTCCCCCCTTCTGCTTGT
Y
CCCCCAGGTTCTCCCCAATTACCATTGATGGAATGACAAGCCTTGTGGGAATGAACATCCCTGGTCACACAGGAACTGGGTGGTGCATCTTTGTCTACAA
Celera SNP ID:            hCV15886649
SNP Position Transcript:  857
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1034, 273, (P,CCC)   (S,TCC)      



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333356 - 84000314999468
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810126 - 197000064952767
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36718062..36737639)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:338):
ATCCAGTCCGGGTTTTGCGGCGGAGCGGGCGGGCTGCGCGTGCGGCGGCTTCAACTGTCGCGGTAGGCAGCAGCAGGCTGAAGGGATCATGGTGCAGTAC
GAGCTGTGGGCCGCGCTGCCTGGCGCCTCCGGGGTCGCCCTGGCCTGCTGCTTCGTGGCGGCGGCCGTGGCCCTGCGCTGGTCCGGGCGCCGGACGGCGC
GGGGCGCGGTGGTCCGGGCGCGACAGAGGCAGCGAGCGGGCCTGGAGAACATGGACAGGGCGGCGCAGCGCTTCCGGCTCCAGAACCCAGACCTGGACTC
AGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACACAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGCC
TGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCC
CTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGT
GCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACC
GTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATA
TCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAACCGCCTCAGCAAGAGTGGCCTGAAGGGCTGTGTCTA
TGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTGYGAGGACATGTTCCGC
TTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTGACAACTATACCATGC
CCTCCCCGGCCATGAGGCGGGCCGTGCTGGAGACCAAACAGAGCCTTGAGGCTGCGGGGCACACGCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGC
TCTGGAGACCCTGTCAACAGGTGGGCTCTTCAGTGATGGTGGCCACACCTTCCTACAGAACTTCAAAGGTGATTTCGTGGACCCCTGCCTGGGGGACCTG
GTCTCAATTCTGAAGCTTCCCCAATGGCTTAAAGGACTGCTGGCCTTCCTGGTGAAGCCTCTGCTGCCAAGGCTGTCAGCTTTCCTCAGCAACATGAAGT
CTCGTTCGGCTGGAAAACTCTGGGAACTGCAGCACGAGATCGAGGTGTACCGCAAAACCGTGATTGCCCAGTGGAGGGCGCTGGACCTGGATGTGGTGCT
GACCCCCATGCTGGCCCCTGCTCTGGACTTGAATGCCCCAGGCAGGGCCACAGGGGCCGTCAGCTACACTATGCTGTACAACTGCCTGGACTTCCCTGCA
GGGGTGGTGCCTGTCACCACGGTGACTGCTGAGGACGAGGCCCAGATGGAACATTACAGGGGCTACTTTGGGGATATCTGGGACAAGATGCTGCAGAAGG
GCATGAAGAAGAGTGTGGGGCTGCCGGTGGCCGTGCAGTGTGTGGCTCTGCCCTGGCAAGAAGAGTTGTGTCTGCGGTTCATGCGGGAGGTGGAGCGACT
GATGACCCCTGAAAAGCAGTCATCCTGATGGCTCTGGCTCCAGAGGACCTGAGACTCACACTCTCTGCAGCCCAGCCTAGTCAGGGCACAGCTGCCCTGC
TGCCACAGCAAGGAAATGTCCTGCATGGGGCAGAGGCTTCCGTGTCCTCTCCCCCAAGTGGCAGCCCATGGGTATGACATAGGCCAAGGCCCAACTAACA
GTC

Protein Sequence    (SEQ ID NO:1035):
MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTY
VGKAWEVNKGTNCVTSYLADCETQLSQATRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPL
FGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCE
DMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPC
LGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRATGAVSYTMLYNCL
DFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS


SNP Information

Context             (SEQ ID NO:6066):
TGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTG
Y
GAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTG
Celera SNP ID:            hCV927989
SNP Position Transcript:  985
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,21|T,3)   total(C,49|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 299, (C,TGC)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 299, (C,TGC)   (C,TGT)      299, (C,TGT)   (C,TGC)      



Context             (SEQ ID NO:6067):
CGTGCTCTTCACCTATGTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  473
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 129, (T,ACA)   (P,CCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 129, (T,ACA)   (P,CCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 129, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:6068):
AGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  712
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1035, 208, (X,TGA)   (W,TGG)   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333358 - 84000314999399
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810121 - 197000064952762
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36769162..36791721)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:339):
CCTCAGCTTCCCGAGTAGCTGGGACTGCAGGCGCCAGCAACCTCGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGG
AGGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTT
AAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCTRGTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGG
CCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTTKGGAGT
CCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGGAGTCT
GTAGAGGCGCGCGGAGTCCTGGGAGAGCGTCAGATGTATTTCCTTTCCCTTTTTTCGCTCGTGTCCCGCCGGGTGGCGCTCACCACCTCCCCGGAACACG
CGAGTCTCCTGTCGCGGTTCCGGTCGGAATTACCCCGTGGAGCACGCCGATATGGCTGCGCTGACACTGAGGGGTGTCCGGGAGCTGCTGAAGCGTGTGG
ACCTCGCGACGGTCCCGCGGAGACATCGATATAAGAAGAAATGGCCCGGTCGCCCTCACCCCTCGGAAAATACCATAGCGACCTTGCCTGCACTCCTGGG
TCTCCGCCGCCTTGCAGGAAAGGATTCAGCCCCTTCCTCAACCTCGAGCTGCCTCTGGCGACCGGGCAAGGTTACAGCGACCACCCTGTCCATACTGCCG
GCCCAAACCCTGGCAAAAGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATGRCTTACAGTGTGCAGTTTGGAGAT
CTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGC
AGCTGAGTGCCAAGGAYTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTG
CAGTCCGAAMCTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATG
GATGCTGCCTCCTTGCTGCCTGTTCTGGCCCTCGGCCTGCAGCCTGGGGACATCGTGCTTGACCTATGTGCAGCTCCTGGGGGAAAGACACTAGCGTTGC
TTCAGACTGGCTGTTGCCGCAATCTTGCTGCCAATGATCTCTCCCCGTCCCGAATAGCCAGACTACAGAAGATCCTTCACAGCTATGTGCCTGAAGAGAT
CAGGGATGGAAATCAAGTTCGAGTTACCTCATGGGATGGCAGGAAATGGGGAGAACTGGAGGGGGACACCTATGACCGGGTGCTGGTGGATGTGCCCTGT
ACCACAGACCGCCACTCCCTTCATGAGGAGGAGAACAACATCTTTAAGCGGTCAAGGAAGAAGGAGCGACAGATATTGCCTGTGCTGCAAGTGCAGCTTC
TTGCGGCTGGACTCCTTGCCACCAAACCAGGAGGCCATGTTGTCTATTCTACCTGCTCACTCTCACACTTACAGAACGAGTATGTGGTGCAAGGTGCCAT
TGAGCTCCTGGCCAATCAATACAGCATCCAGGTACAGGTGGAAGATCTGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGT
CAGGTTGGGGAGCTGGTARTACCAAACCTCATGGCCAATTTTGGCCCYATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAG
CAAGAATACAAAGGGTATACTCTGTTGGATGCACCAGAAACTGGAAACTGGGACCAGTGGCAGAGATGCACTCTCGGTCCTGTCTCCATCCTGTTCGTGT
CTTTCTGCAGTTTTCGGCAATAAGAAGTAGAAGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTAMCCCCTACCC
CATCTCCAGGCCTGTACTAAAGTTTGCTGCCYGCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATT
TGGCCAATAAAGTTGTTGAAACTCTATAGACCTRGGGCTGCAGTTGGGGACTTCATGTCAGTGCAAATGCCATTAGTTCCATTTGTACCAGCCAGTTACT
GAGCCCCTGTCACCCTTGAAGTGAGTTCCACCTGACCAGTCTTGAGCAGCCAACAGGCTCAATTAAGCCCGCCTGGTTTTTCCATATGGCTCATGATCTA
ATTTAAGGAACAAGTAACTAAAAATGTTAAGCCAGTGCAAAATAATCTGCTTACCTACTCACATTGGAAAAACCCTCTGAGCTGAATAATTCTGGCCATT
CCTGCTGTCAACAATACTGCTGCCCAAATGTGGCTTAGGAGGCTGCTTCTGCCACAAAACCGTCATACTCTTGTGCGTGCCTTGTTCTTTGTTCATTCAT
CTAGCAGGTATTCCCAGACCTCGTGTATGACAGGTAGCTAGGGAGCTCTTGGAGATGTAGCAGTTGGGATTGTGGGAGATTACTGGGCTTCCTCATCCTT
TAGAATGGTAACTCTCCTTTTGCTTTCTGAACACCTAGGAATTTCCTGATGTTTTGTTTTGTTGGATTCC

Protein Sequence    (SEQ ID NO:1036):
MTYSVQFGDLWPSIRVSLLSEQKYGALVNNFAAWDHVSAKLEQLSAKDFVNEAISHWELQSEGGQSAAPSPASWACSPNLRCFTFDRGDISRFPPARPGS
LGVMEYYLMDAASLLPVLALGLQPGDIVLDLCAAPGGKTLALLQTGCCRNLAANDLSPSRIARLQKILHSYVPEEIRDGNQVRVTSWDGRKWGELEGDTY
DRVLVDVPCTTDRHSLHEEENNIFKRSRKKERQILPVLQVQLLAAGLLATKPGGHVVYSTCSLSHLQNEYVVQGAIELLANQYSIQVQVEDLTHFRRVFM
DTFCFFSSCQVGELVIPNLMANFGPMYFCKMRRLT


SNP Information

Context             (SEQ ID NO:6069):
GCGACCACCCTGTCCATACTGCCGGCCCAAACCCTGGCAAAAGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATG
R
CTTACAGTGTGCAGTTTGGAGATCTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGA
Celera SNP ID:            hCV7567535
SNP Position Transcript:  977
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,22|G,16)   total(A,53|G,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1036, 2, (T,ACT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1036, 2, (T,ACT)   (A,GCT)      2, (A,GCT)   (T,ACT)      



Context             (SEQ ID NO:6070):
CAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTTAAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCT
R
GTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACC
Celera SNP ID:            hCV27846507
SNP Position Transcript:  246
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1036, None



Context             (SEQ ID NO:6071):
AGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTT
K
GGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGG
Celera SNP ID:            hCV27854401
SNP Position Transcript:  395
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(G,24|T,4)   total(G,50|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1036, None



Context             (SEQ ID NO:6072):
CCAAGGATTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAA
M
CTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATGGATGCTGCCT
Celera SNP ID:            hCV25971371
SNP Position Transcript:  1210
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,36)   caucasian(C,38)   total(A,2|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1036, 79, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:6073):
ATACAGCATCCAGGTACAGGTGGAAGATCTGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGTCAGGTTGGGGAGCTGGTA
R
TACCAAACCTCATGGCCAATTTTGGCCCCATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAGCAAGAATACAAAGGGTATA
Celera SNP ID:            hCV7567568
SNP Position Transcript:  1919
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1036, 316, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:6074):
TGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGTCAGGTTGGGGAGCTGGTAATACCAAACCTCATGGCCAATTTTGGCCC
Y
ATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAGCAAGAATACAAAGGGTATACTCTGTTGGATGCACCAGAAACTGGAAAC
Celera SNP ID:            hCV7567569
SNP Position Transcript:  1948
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,30|T,10)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1036, 325, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1036, 325, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:6075):
CTGTTCGTGTCTTTCTGCAGTTTTCGGCAATAAGAAGTAGAAGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTA
M
CCCCTACCCCATCTCCAGGCCTGTACTAAAGTTTGCTGCCCGCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGG
Celera SNP ID:            hCV7567578
SNP Position Transcript:  2191
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1036, None   



Context             (SEQ ID NO:6076):
AGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTAACCCCTACCCCATCTCCAGGCCTGTACTAAAGTTTGCTGCC
Y
GCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATTTGGCCAATAAAGTTGTTGAAACTCTATAGACC
Celera SNP ID:            hCV7567579
SNP Position Transcript:  2232
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1036, None   



Context             (SEQ ID NO:6077):
GTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGCAGCTGAGTGCCAAGGA
Y
TTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAACCTTCGAT
Celera SNP ID:            hCV25971959
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,10|T,30)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1036, 48, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:6078):
CTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATTTGGCCAATAAAGTTGTTGAAACTCTATAGACCT
R
GGGCTGCAGTTGGGGACTTCATGTCAGTGCAAATGCCATTAGTTCCATTTGTACCAGCCAGTTACTGAGCCCCTGTCACCCTTGAAGTGAGTTCCACCTG
Celera SNP ID:            hCV29234441
SNP Position Transcript:  2334
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1036, None   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333357 - 84000314999354
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810118 - 197000064952759
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36718053..36737639)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:340):
ATCCAGTCCGGGTTTTGCGGCGGAGCGGGCGGGCTGCGCGTGCGGCGGCTTCAACTGTCGCGGTAGGCAGCAGCAGGCTGAAGGGATCATGGTGCAGTAC
GAGCTGTGGGCCGCGCTGCCTGGCGCCTCCGGGGTCGCCCTGGCCTGCTGCTTCGTGGCGGCGGCCGTGGCCCTGCGCTGGTCCGGGCGCCGGACGGCGC
GGGGCGCGGTGGTCCGGGCGCGACAGAGGCAGCGAGCGGGCCTGGAGAACATGGACAGGGCGGCGCAGCGCTTCCGGCTCCAGAACCCAGACCTGGACTC
AGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACACAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGCC
TGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCC
CTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGT
GCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACC
GTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATA
TCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAACCGCCTCAGCAAGAGTGGCCTGAAGGGCTGTGTCTA
TGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTGYGAGGACATGTTCCGC
TTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTGACAACTATACCATGC
CCTCCCCGGCCATGAGGCGGGCCGTGCTGGAGACCAAACAGAGCCTTGAGGCTGCGGGGCACACGCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGC
TCTGGAGACCCTGTCAACAGGTGGGCTCTTCAGTGATGGTGGCCACACCTTCCTACAGAACTTCAAAGGTGATTTCGTGGACCCCTGCCTGGGGGACCTG
GTCTCAATTCTGAAGCTTCCCCAATGGCTTAAAGGACTGCTGGCCTTCCTGGTGAAGCCTCTGCTGCCAAGGCTGTCAGCTTTCCTCAGCAACATGAAGT
CTCGTTCGGCTGGAAAACTCTGGGAACTGCAGCACGAGATCGAGGTGTACCGCAAAACCGTGATTGCCCAGTGGAGGGCGCTGGACCTGGATGTGGTGCT
GACCCCCATGCTGGCCCCTGCTCTGGACTTGAATGCCCCAGGCAGGGCCACAGGGGCCGTCAGCTACACTATGCTGTACAACTGCCTGGACTTCCCTGCA
GGGGTGGTGCCTGTCACCACGGTGACTGCTGAGGACGAGGCCCAGATGGAACATTACAGGGGCTACTTTGGGGATATCTGGGACAAGATGCTGCAGAAGG
GCATGAAGAAGAGTGTGGGGCTGCCGGTGGCCGTGCAGTGTGTGGCTCTGCCCTGGCAAGAAGAGTTGTGTCTGCGGTTCATGCGGGAGGTGGAGCGACT
GATGACCCCTGAAAAGCAGTCATCCTGATGGCTCTGGCTCCAGAGGACCTGAGACTCACACTCTCTGCAGCCCAGCCTAGTCAGGGCACAGCTGCCCTGC
TGCCACAGCAAGGAAATGTCCTGCATGGGGCAGAGGCTTCCGTGTCCTCTCCCCCAACCCCCTGCAAGAAGCGCCGACTCCCTGAGTCTGGACCTCCATC
CCTGCTCTGGTCCCCTCTCTTCGTCCTGATCCCTCCACCCCCATGTGGCAGCCCATGGGTATGACATAGGCCAAGGCCCAACTAACAGTCAAGAAACAG

Protein Sequence    (SEQ ID NO:1037):
MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTY
VGKAWEVNKGTNCVTSYLADCETQLSQATRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPL
FGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCE
DMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPC
LGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRATGAVSYTMLYNCL
DFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS


SNP Information

Context             (SEQ ID NO:6079):
TGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTG
Y
GAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTG
Celera SNP ID:            hCV927989
SNP Position Transcript:  985
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,21|T,3)   total(C,49|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 299, (C,TGC)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 299, (C,TGC)   (C,TGT)      299, (C,TGT)   (C,TGC)      



Context             (SEQ ID NO:6080):
CGTGCTCTTCACCTATGTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  473
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 129, (T,ACA)   (P,CCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 129, (T,ACA)   (P,CCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 129, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:6081):
AGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  712
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1037, 208, (X,TGA)   (W,TGG)   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333354 - 84000314999444
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810125 - 197000064952766
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36718062..36791721)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:341):
CCTCAGCTTCCCGAGTAGCTGGGACTGCAGGCGCCAGCAACCTCGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGG
AGGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTT
AAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCTRGTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGG
CCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTTKGGAGT
CCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGGAGTCT
GTAGAGGCGCGCGGAGTCCTGGGAGAGCGTCAGATGTATTTCCTTTCCCTTTTTTCGCTCGTGTCCCGCCGGGTGGCGCTCACCACCTCCCCGGAACACG
CGAGTCTCCTGTCGCGGTTCCGGTCGGAATTACCCCGTGGAGCACGCCGATATGGCTGCGCTGACACTGAGGGGTGTCCGGGAGCTGCTGAAGCGTGTGG
ACCTCGCGACGGTCCCGCGGAGACATCGATATAAGAAGAAATGGCCCGGTCGCCCTCACCCCTCGGAAAATACCATAGCGACCTTGCCTGCACTCCTGGG
TCTCCGCCGCCTTGCAGGAAAGGATTCAGCCCCTTCCTCAACCTCGAGCTGCCTCTGGCGACCGGGCAAGGTTACAGCGACCACCCTGTCCATACTGCCG
GCCCAAACCCTGGCAAAAGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATGRCTTACAGTGTGCAGTTTGGAGAT
CTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGC
AGCTGAGTGCCAAGGAYTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTG
CAGTCCGAAMCTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATG
GATGCTGCCTCCTTGCTGCCTGTTCTGGCCCTCGGCCTGCAGCCTGGGGACATCGTGCTTGACCTATGTGCAGCTCCTGGGGGAAAGACACTAGCGTTGC
TTCAGACTGGCTGTTGCCGTAAGCAATCTTGCTGCCAATGATCTCTCCCCGTCCCGAATAGCCAGACTACAGAAGATCCTTCACAGCTATGTGCCTGAAG
AGATCAGGGATGGAAATCAAGTTCGAGTTACCTCATGGGATGGCAGGAAATGGGGAGAACTGGAGGGGGACACCTATGACCGGGTGCTGGTGGATGTGCC
CTGTACCACAGACCGCCACTCCCTTCATGAGGAGGAGAACAACATCTTTAAGCGGTCAAGGAAGAAGGAGCGACAGATATTGCCTGTGCTGCAAGTGCAG
CTTCTTGCGGCTGGACTCCTTGCCACCAAACCAGGAGGCCATGTTGTCTATTCTACCTGCTCACTCTCACACTTACAGAACGAGTATGTGGTGCAAGGTG
CCATTGAGCTCCTGGCCAATCAATACAGCATCCAGAACCCAGACCTGGACTCAGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACA
CAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGAC
TGTGAGACTCAGCTGTCTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGC
TGGGCTTGAGCCTGAATGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGTGCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGT
TCCACAGTCCATGTTCAGACCGTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCC
CCCTGGGCTTAGGCACTGATATCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAACCGCCTCAGGTCTAC
ACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTGACAACTATACCATGCCCTCCCCGGCCATGAGGCGGGCCGTGCTGGAGACCAAACAGAGCC
TTGAGGCTGCGGGGCACACGCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGCTCTGGAGACCCTGTCAACAGGTGGGCTCTTCAGTGATGGTGGCCA
CACCTTCCTACAGAACTTCAAAGGTGATTTCGTGGACCCCTGCCTGGGGGACCTGGTCTCAATTCTGAAGCTTCCCCAATGGCTTAAAGGACTGCTGGCC
TTCCTGGTGAAGCCTCTGCTGCCAAGGCTGTCAGCTTTCCTCAGCAACATGAAGTCTCGTTCGGCTGGAAAACTCTGGGAACTGCAGCACGAGATCGAGG
TGTACCGCAAAACCGTGATTGCCCAGTGGAGGGCGCTGGACCTGGATGTGGTGCTGACCCCCATGCTGGCCCCTGCTCTGGACTTGAATGCCCCAGGCAG
GGCCACAGGGGCCGTCAGCTACACTATGCTGTACAACTGCCTGGACTTCCCTGCAGGGGTGGTGCCTGTCACCACGGTGACTGCTGAGGACGAGGCCCAG
ATGGAACATTACAGGGGCTACTTTGGGGATATCTGGGACAAGATGCTGCAGAAGGGCATGAAGAAGAGTGTGGGGCTGCCGGTGGCCGTGCAGTGTGTGG
CTCTGCCCTGGCAAGAAGAGTTGTGTCTGCGGTTCATGCGGGAGGTGGAGCGACTGATGACCCCTGAAAAGCAGTCATCCTGATGGCTCTGGCTCCAGAG
GACCTGAGACTCACACTCTCTGCAGCCCAGCCTAGTCAGGGCACAGCTGCCCTGCTGCCACAGCAAGGAAATGTCCTGCATGGGGCAGAGGCTTCCGTGT
CCTCTCCCCCAAGTGGCAGCCCATGGGTATGACATAGGCCAAGGCCCAACTAACAGTC

Protein Sequence    (SEQ ID NO:1038):
MPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPCLGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNM
KSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRATGAVSYTMLYNCLDFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQ
KGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS


SNP Information

Context             (SEQ ID NO:6082):
AGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTT
K
GGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGG
Celera SNP ID:            hCV27854401
SNP Position Transcript:  395
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(G,24|T,4)   total(G,50|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None



Context             (SEQ ID NO:6083):
GCGACCACCCTGTCCATACTGCCGGCCCAAACCCTGGCAAAAGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATG
R
CTTACAGTGTGCAGTTTGGAGATCTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGA
Celera SNP ID:            hCV7567535
SNP Position Transcript:  977
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,22|G,16)   total(A,53|G,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None   



Context             (SEQ ID NO:6084):
CCAAGGATTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAA
M
CTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATGGATGCTGCCT
Celera SNP ID:            hCV25971371
SNP Position Transcript:  1210
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,36)   caucasian(C,38)   total(A,2|C,74)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None



Context             (SEQ ID NO:6085):
CAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTTAAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCT
R
GTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACC
Celera SNP ID:            hCV27846507
SNP Position Transcript:  246
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None



Context             (SEQ ID NO:6086):
CGTGCTCTTCACCTATGTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  2025
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None   



Context             (SEQ ID NO:6087):
GAGTGCGACAGCGTAGTGGTGCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  2233
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None



Context             (SEQ ID NO:6088):
GTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGCAGCTGAGTGCCAAGGA
Y
TTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAACCTTCGAT
Celera SNP ID:            hCV25971959
SNP Position Transcript:  1117
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,10|T,30)   total(C,15|T,63)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1038, None



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333362 - 84000314999429
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810123 - 197000064952764
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36769162..36791490)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:342):
CTGCCTACAAGCCTRGTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTC
TTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTTKGGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAG
TCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGGAGTCTGTAGAGGCGCGCGGAGTCCTGGGAGAGCGTC
AGATGTATTTCCTTTCCCTTTTTTCGCTCGTGTCCCGCCGGGTGGCGCTCACCACCTCCCCGGAACACGCGAGTCTCCTGTCGCGGTTCCGGTCGGAATT
ACCCCGTGGAGCACGCCGATATGGCTGCGCTGACACTGAGGGGTGTCCGGGAGCTGCTGAAGCGTGTGGACCTCGCGACGGTCCCGCGGAGACATCGATA
TAAGAAGAAATGGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATGRCTTACAGTGTGCAGTTTGGAGATCTTTGG
CCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGCAGCTGA
GTGCCAAGGAYTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCC
GAAMCTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATGGATGCT
GCCTCCTTGCTGCCTGTTCTGGCCCTCGGCCTGCAGCCTGGGGACATCGTGCTTGACCTATGTGCAGCTCCTGGGGGAAAGACACTAGCGTTGCTTCAGA
CTGGCTGTTGCCGCAATCTTGCTGCCAATGATCTCTCCCCGTCCCGAATAGCCAGACTACAGAAGATCCTTCACAGCTATGTGCCTGAAGAGATCAGGGA
TGGAAATCAAGTTCGAGTTACCTCATGGGATGGCAGGAAATGGGGAGAACTGGAGGGGGACACCTATGACCGGGTGCTGGTGGATGTGCCCTGTACCACA
GACCGCCACTCCCTTCATGAGGAGGAGAACAACATCTTTAAGCGGTCAAGGAAGAAGGAGCGACAGATATTGCCTGTGCTGCAAGTGCAGCTTCTTGCGG
CTGGACTCCTTGCCACCAAACCAGGAGGCCATGTTGTCTATTCTACCTGCTCACTCTCACACTTACAGAACGAGTATGTGGTGCAAGGTGCCATTGAGCT
CCTGGCCAATCAATACAGCATCCAGGTACAGGTGGAAGATCTGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGTCAGGTT
GGGGAGCTGGTARTACCAAACCTCATGGCCAATTTTGGCCCYATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAGCAAGAA
TACAAAGGGTATACTCTGTTGGATGCACCAGAAACTGGAAACTGGGACCAGTGGCAGAGATGCACTCTCGGTCCTGTCTCCATCCTGTTCGTGTCTTTCT
GCAGTTTTCGGCAATAAGAAGTAGAAGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTAMCCCCTACCCCATCTC
CAGGCCTGTACTAAAGTTTGCTGCCYGCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATTTGGCCA
ATAAAGTTGTTGAAACTCTATAGACCTRGGGCTGCAGTTGGGGACTTCATGTCAGTGCAAATGCCATTAGTTCCATTTGTACCAGCCAGTTACTGAGCCC
CTGTCACCCTTGAAGTGAGTTCCACCTGACCAGTCTTGAGCAGCCAACAGGCTCAATTAAGCCCGCCTGGTTTTTCCATATGGCTCATGATCTAATTTAA
GGAACAAGTAACTAAAAATGTTAAGCCAGTGCAAAATAATCTGCTTACCTACTCACATTGGAAAAACCCTCTGAGCTGAATAATTCTGGCCATTCCTGCT
GTCAACAATACTGCTGCCCAAATGTGGCTTAGGAGGCTGCTTCTGCCACAAAACCGTCATACTCTTGTGCGTGCCTTGTTCTTTGTTCATTCATCTAGCA
GGTATTCCCAGACCTCGTGTATGACAGGTAGCTAGGGAGCTCTTGGAGATGTAGCAGTTGGGATTGTGGGAGATTACTGGGCTTCCTCATCCTTTAGAAT
GGTAACTCTCCTTTTGCTTTCTGAACACCTAGGAATTTCCTGATGTTTTGTTTTGTTGGATTCC

Protein Sequence    (SEQ ID NO:1039):
MAALTLRGVRELLKRVDLATVPRRHRYKKKWAATEPKFPAVRLALQNFDMTYSVQFGDLWPSIRVSLLSEQKYGALVNNFAAWDHVSAKLEQLSAKDFVN
EAISHWELQSEGGQSAAPSPASWACSPNLRCFTFDRGDISRFPPARPGSLGVMEYYLMDAASLLPVLALGLQPGDIVLDLCAAPGGKTLALLQTGCCRNL
AANDLSPSRIARLQKILHSYVPEEIRDGNQVRVTSWDGRKWGELEGDTYDRVLVDVPCTTDRHSLHEEENNIFKRSRKKERQILPVLQVQLLAAGLLATK
PGGHVVYSTCSLSHLQNEYVVQGAIELLANQYSIQVQVEDLTHFRRVFMDTFCFFSSCQVGELVIPNLMANFGPMYFCKMRRLT


SNP Information

Context             (SEQ ID NO:6089):
CCTCGCGACGGTCCCGCGGAGACATCGATATAAGAAGAAATGGGCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATG
R
CTTACAGTGTGCAGTTTGGAGATCTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGA
Celera SNP ID:            hCV7567535
SNP Position Transcript:  571
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,22|G,16)   total(A,53|G,23)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1039, 51, (T,ACT)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1039, 51, (T,ACT)   (A,GCT)      51, (A,GCT)   (T,ACT)      



Context             (SEQ ID NO:6090):
CTGCCTACAAGCCT
R
GTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACC
Celera SNP ID:            hCV27846507
SNP Position Transcript:  15
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1039, None



Context             (SEQ ID NO:6091):
AGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTT
K
GGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGG
Celera SNP ID:            hCV27854401
SNP Position Transcript:  164
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(G,24|T,4)   total(G,50|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1039, None



Context             (SEQ ID NO:6092):
CCAAGGATTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAA
M
CTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAGACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATGGATGCTGCCT
Celera SNP ID:            hCV25971371
SNP Position Transcript:  804
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,36)   caucasian(C,38)   total(A,2|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1039, 128, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:6093):
ATACAGCATCCAGGTACAGGTGGAAGATCTGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGTCAGGTTGGGGAGCTGGTA
R
TACCAAACCTCATGGCCAATTTTGGCCCCATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAGCAAGAATACAAAGGGTATA
Celera SNP ID:            hCV7567568
SNP Position Transcript:  1513
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1039, 365, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:6094):
TGACTCACTTCCGAAGGGTTTTCATGGACACATTTTGTTTCTTCTCATCCTGTCAGGTTGGGGAGCTGGTAATACCAAACCTCATGGCCAATTTTGGCCC
Y
ATGTACTTCTGCAAAATGCGTAGGCTGACATAGTATCACCCAATCCCTGAAGCAAGAATACAAAGGGTATACTCTGTTGGATGCACCAGAAACTGGAAAC
Celera SNP ID:            hCV7567569
SNP Position Transcript:  1542
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,30|T,10)   total(C,63|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1039, 374, (P,CCC)   (P,CCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1039, 374, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:6095):
CTGTTCGTGTCTTTCTGCAGTTTTCGGCAATAAGAAGTAGAAGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTA
M
CCCCTACCCCATCTCCAGGCCTGTACTAAAGTTTGCTGCCCGCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGG
Celera SNP ID:            hCV7567578
SNP Position Transcript:  1785
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1039, None   



Context             (SEQ ID NO:6096):
AGATTTGCTGTCCTGCTGTCCAATTGTGGAGCATCAGCAGGTTTCCAACTCACTCATTAACCCCTACCCCATCTCCAGGCCTGTACTAAAGTTTGCTGCC
Y
GCTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATTTGGCCAATAAAGTTGTTGAAACTCTATAGACC
Celera SNP ID:            hCV7567579
SNP Position Transcript:  1826
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1039, None   



Context             (SEQ ID NO:6097):
GTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGCAGCTGAGTGCCAAGGA
Y
TTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAACCTTCGAT
Celera SNP ID:            hCV25971959
SNP Position Transcript:  711
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,10|T,30)   total(C,15|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1039, 97, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:6098):
CTTAGGGGCTTAGAAGGAGAAGCCAGTGAGCAGGCTCACACTAAGTTGTAAACATAGGAGAAGCATTTGGCCAATAAAGTTGTTGAAACTCTATAGACCT
R
GGGCTGCAGTTGGGGACTTCATGTCAGTGCAAATGCCATTAGTTCCATTTGTACCAGCCAGTTACTGAGCCCCTGTCACCCTTGAAGTGAGTTCCACCTG
Celera SNP ID:            hCV29234441
SNP Position Transcript:  1928
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1039, None   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333361 - 84000314999373
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810119 - 197000064952760
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36722434..36737639)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:343):
ATCCAGTCCGGGTTTTGCGGCGGAGCGGGCGGGCTGCGCGTGCGGCGGCTTCAACTGTCGCGGTAGGCAGCAGCAGGCTGAAGGGATCATGGTGCAGTAC
GAGCTGTGGGCCGCGCTGCCTGGCGCCTCCGGGGTCGCCCTGGCCTGCTGCTTCGTGGCGGCGGCCGTGGCCCTGCGCTGGTCCGGGCGCCGGACGGCGC
GGGGCGCGGTGGTCCGGGCGCGACAGAGGCAGCGAGCGGGCCTGGAGAACATGGACAGGGCGGCGCAGCGCTTCCGGCTCCAGAACCCAGACCTGGACTC
AGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACACAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGTA
AGGCCAGCCAAGGCCAGCCCCTCCCTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGT
CTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAA
TGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGTGCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTC
AGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCG
GGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAA
CCGCCTCAGGTAAGGTGGGTGGAGGGCGCTTCTGGGCCCCTCGCTGTGTGACCTTGGCCTAGCTTCCAACCTCTCTGGGCTCCAGGCGGGGATTCGGTCT
CCGGGGTTTTGCTGGGAGGAAGCATTACAGTACCACTGGCCGGGCGTGGGTCCTAGTTTCCAAAGCGGTGAGTGTTCAGAGCTGCTCTGTGGGTGTGGGG
ATGGCGGCGGGTGGCCATTTCCTGTTTCCAGCATCTTATGTTTCTTATCCAGCAAGAGTGGCCTGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCT
CTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTGYGAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCC
TTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTGACAACTATACCATGCCCTCCCCGGCCATGAGGCGGG
CCGTGCTGGAGACCAAACAGAGCCTTGAGGCTGCGGGGCACACGCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGCTCTGGAGACCCTGTCAACAGG
TGGGCTCTTCAGTGATGGTGGCCACACCTTCCTACAGAACTTGTGAGTGATAGTGGGCTTTGGGGTCTTGGTGGGATCAGACAAGTAGGCAGACCTGGGG
GAGCAGCAGGGTGTGGTGATGCCTGGATGGGCCTTAGCTGAATCCAACAAAGGCCTGAGCACTCTGGGCAGGGACCTCGCTGTCCCTCCAGCTGGGCACA
TTGAGCCTGGAGATCCCTTGCCAGGGTGCCAGCCCGAGKGGAGGCTGGGTTGAGTATCTGTGGCCTACCCCTGATCTGAGCTTGTTGTGAGGTAGGAGGT
GGGCAGGAG

Protein Sequence    (SEQ ID NO:1040):
MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTY
VGKVRPAKASPSLGKAWEVNKGTNCVTSYLADCETQLSQATRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVP
QSMFSYDCSNPLFGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLR


SNP Information

Context             (SEQ ID NO:6099):
GGACCTCGCTGTCCCTCCAGCTGGGCACATTGAGCCTGGAGATCCCTTGCCAGGGTGCCAGCCCGAGGGGAGGCTGGGTTGAGTATCTGTGGCCTACCCC
T
GATCTGAGCTTGTTGTGAGGTAGGAGGTGGGCAGGAG
Celera SNP ID:            hCV11284790
SNP Position Transcript:  1772
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,15)   total(T,15|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1040, None   



Context             (SEQ ID NO:6100):
TGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTG
Y
GAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTG
Celera SNP ID:            hCV927989
SNP Position Transcript:  1264
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,21|T,3)   total(C,49|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1040, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1040, None   



Context             (SEQ ID NO:6101):
CAAGGCCAGCCCCTCCCTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  509
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1040, 141, (T,ACA)   (P,CCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1040, 141, (T,ACA)   (P,CCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1040, 141, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:6102):
AGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  748
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1040, 220, (X,TGA)   (W,TGG)   



Context             (SEQ ID NO:6103):
TGAATCCAACAAAGGCCTGAGCACTCTGGGCAGGGACCTCGCTGTCCCTCCAGCTGGGCACATTGAGCCTGGAGATCCCTTGCCAGGGTGCCAGCCCGAG
K
GGAGGCTGGGTTGAGTATCTGTGGCCTACCCCTGATCTGAGCTTGTTGTGAGGTAGGAGGTGGGCAGGAG
Celera SNP ID:            hCV1897274
SNP Position Transcript:  1739
SNP Source:               Celera
Population(Allele,Count): no_pop(T,5|G,14)   total(G,14|T,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1040, None   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333353 - 84000314999439
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810124 - 197000064952765
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36790310..36791721)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:344):
CCTCAGCTTCCCGAGTAGCTGGGACTGCAGGCGCCAGCAACCTCGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGG
AGGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTT
AAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCTRGTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGG
CCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTTKGGAGT
CCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGGAGTCT
GTAGAGGCGCGCGGAGTCCTGGGAGAGCGTCAGATGTATTTCCTTTCCCTTTTTTCGCTCGTGTCCCGCCGGGTGGCGCTCACCACCTCCCCGGAACACG
CGAGTCTCCTGTCGCGGTTCCGGTCGGAATTACCCCGTGGAGCACGCCGATATGGCTGCGCTGACACTGAGGGGTGTCCGGGAGCTGCTGAAGCGTGTGG
ACCTCGCGACGGTCCCGCGGAGACATCGATATAAGAAGAAATGGCCCGGTCGCCCTCACCCCTCGGAAAATACCATAGCGACCTTGCCTGCACTCCTGGG
TCTCCGCCGCCTTGCAGGAAAGGATTCAGCCCCTTCCTCAACCTCGAGCTGCCTCTGGCGACCGGGCAAGGTTACAGCGACCACCCTGTCCATACTGCCG
GCCCAAACCCTGGCAAAAGGTGCAACGAATCCTCTCATCCTCTGGACTCTCCTTGCTTCTCCAGAGACCCTTTTTCTTGCCTCACTGGAAGCCCTGGAAT
TTCTTCTA

Protein Sequence    (SEQ ID NO:1041):
MAALTLRGVRELLKRVDLATVPRRHRYKKKWPGRPHPSENTIATLPALLGLRRLAGKDSAPSSTSSCLWRPGKVTATTLSILPAQTLAKGATNPLILWTL
LASPETLFLASLEALEFLL


SNP Information

Context             (SEQ ID NO:6104):
AGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTT
K
GGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGG
Celera SNP ID:            hCV27854401
SNP Position Transcript:  395
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(G,24|T,4)   total(G,50|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1041, None



Context             (SEQ ID NO:6105):
CAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTTAAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCT
R
GTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACC
Celera SNP ID:            hCV27846507
SNP Position Transcript:  246
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1041, None



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333359 - 84000314999410
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810122 - 197000064952763
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36718053..36737639)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:345):
ATCCAGTCCGGGTTTTGCGGCGGAGCGGGCGGGCTGCGCGTGCGGCGGCTTCAACTGTCGCGGTAGGCAGCAGCAGGCTGAAGGGATCATGGTGCAGTAC
GAGCTGTGGGCCGCGCTGCCTGGCGCCTCCGGGGTCGCCCTGGCCTGCTGCTTCGTGGCGGCGGCCGTGGCCCTGCGCTGGTCCGGGCGCCGGACGGCGC
GGGGCGCGGTGGTCCGGGCGCGACAGAGGCAGCGAGCGGGCCTGGAGAACATGGACAGGGCGGCGCAGCGCTTCCGGCTCCAGAACCCAGACCTGGACTC
AGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACACAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGTA
AGGCCAGCCAAGGCCAGCCCCTCCCTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGT
CTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAA
TGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGTGCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTC
AGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCG
GGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAA
CCGCCTCAGCAAGAGTGGCCTGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTG
TGCCTGCGAGCCCTGCTGTGYGAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGC
GTGTGGGGTACTATGAGACTGACAACTATACCATGCCCTCCCCGGCCATGAGGCGGGCCGTGCTGGAGACCAAACAGAGCCTTGAGGCTGCGGGGCACAC
GCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGCTCTGGAGACCCTGTCAACAGGTGGGCTCTTCAGTGATGGTGGCCACACCTTCCTACAGAACTTC
AAAGGTGATTTCGTGGACCCCTGCCTGGGGGACCTGGTCTCAATTCTGAAGCTTCCCCAATGGCTTAAAGGACTGCTGGCCTTCCTGGTGAAGCCTCTGC
TGCCAAGGCTGTCAGCTTTCCTCAGCAACATGAAGTCTCGTTCGGCTGGAAAACTCTGGGAACTGCAGCACGAGATCGAGGTGTACCGCAAAACCGTGAT
TGCCCAGTGGAGGGCGCTGGACCTGGATGTGGTGCTGACCCCCATGCTGGCCCCTGCTCTGGACTTGAATGCCCCAGGCAGGGCCACAGGGGCCGTCAGC
TACACTATGCTGTACAACTGCCTGGACTTCCCTGCAGGGGTGGTGCCTGTCACCACGGTGACTGCTGAGGACGAGGCCCAGATGGAACATTACAGGGGCT
ACTTTGGGGATATCTGGGACAAGATGCTGCAGAAGGGCATGAAGAAGAGTGTGGGGCTGCCGGTGGCCGTGCAGTGTGTGGCTCTGCCCTGGCAAGAAGA
GTTGTGTCTGCGGTTCATGCGGGAGGTGGAGCGACTGATGACCCCTGAAAAGCAGTCATCCTGATGGCTCTGGCTCCAGAGGACCTGAGACTCACACTCT
CTGCAGCCCAGCCTAGTCAGGGCACAGCTGCCCTGCTGCCACAGCAAGGAAATGTCCTGCATGGGGCAGAGGCTTCCGTGTCCTCTCCCCCAACCCCCTG
CAAGAAGCGCCGACTCCCTGAGTCTGGACCTCCATCCCTGCTCTGGTCCCCTCTCTTCGTCCTGATCCCTCCACCCCCATGTGGCAGCCCATGGGTATGA
CATAGGCCAAGGCCCAACTAACAGTCAAGAAACAG

Protein Sequence    (SEQ ID NO:1042):
MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTY
VGKVRPAKASPSLGKAWEVNKGTNCVTSYLADCETQLSQATRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVP
QSMFSYDCSNPLFGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVE
SLALCLRALLCEDMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTF
LQNFKGDFVDPCLGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRAT
GAVSYTMLYNCLDFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS


SNP Information

Context             (SEQ ID NO:6106):
TGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTG
Y
GAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTG
Celera SNP ID:            hCV927989
SNP Position Transcript:  1021
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,21|T,3)   total(C,49|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 311, (C,TGC)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 311, (C,TGC)   (C,TGT)      311, (C,TGT)   (C,TGC)      



Context             (SEQ ID NO:6107):
CAAGGCCAGCCCCTCCCTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  509
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 141, (T,ACA)   (P,CCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 141, (T,ACA)   (P,CCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 141, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:6108):
AGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  748
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1042, 220, (X,TGA)   (W,TGG)   



Gene Number:                 120
Celera Gene:                 hCG2031650 - 84000314999353
Celera Transcript:           hCT2333364 - 84000314999385
Public Transcript Accession: NM_001441
Celera Protein:              hCP1810120 - 197000064952761
Public Protein Accession:    NP_001432
Gene Symbol:                 FAAH
Protein Name:                fatty acid amide hydrolase
Celera Genomic Axis:         GA_x5YUV32W802(36720939..36737639)
Chromosome:                  Chr1
OMIM number:                 602935
OMIM Information:            FATTY ACID AMIDE HYDROLASE;FAAH


Transcript Sequence (SEQ ID NO:346):
ATCCAGTCCGGGTTTTGCGGCGGAGCGGGCGGGCTGCGCGTGCGGCGGCTTCAACTGTCGCGGTAGGCAGCAGCAGGCTGAAGGGATCATGGTGCAGTAC
GAGCTGTGGGCCGCGCTGCCTGGCGCCTCCGGGGTCGCCCTGGCCTGCTGCTTCGTGGCGGCGGCCGTGGCCCTGCGCTGGTCCGGGCGCCGGACGGCGC
GGGGCGCGGTGGTCCGGGCGCGACAGAGGCAGCGAGCGGGCCTGGAGAACATGGACAGGGCGGCGCAGCGCTTCCGGCTCCAGAACCCAGACCTGGACTC
AGAGGCGCTGCTAGCCCTGCCCCTGCCTCAGCTGGTGCAGAAGTTACACAGTAGAGAGCTGGCCCCTGAGGCCGTGCTCTTCACCTATGTGGGAAAGGCC
TGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCCMCAAGGCAGGGCCTGCTCTATGGCGTCC
CTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGTGCCGGCGGAGTGCGACAGCGTAGTGGT
GCATGTGCTGAAGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACC
GTGAACCCATGRAAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATA
TCGGAGGCAGCATCCGCTTCCCCTCCTCCTTCTGCGGCATCTGCGGCCTCAAGCCCACAGGGAACCGCCTCAGCAAGAGTGGCCTGAAGGGCTGTGTCTA
TGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTGYGAGGACATGTTCCGC
TTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTGACAACTATACCATGC
CCTCCCCGGCCATGAGGCGGGCCGTGCTGGAGACCAAACAGAGCCTTGAGGCTGCGGGGCACACGCTGGTTCCCTTCTTGCCAAGCAACATACCCCATGC
TCTGGAGACCCTGTCAACAGGTGGGCTCTTCAGTGATGGTGGCCACACCTTCCTACAGAACTTCAAAGGTGATTTCGTGGACCCCTGCCTGGGGGACCTG
GTCTCAATTCTGAAGCTTCCCCAATGGCTTAAAGGACTGCTGGCCTTCCTGGTGAAGCCTCTGGTGAGGGCACAAGGAGTGGAGGGGCTAGGATGGCTGG
GGGGGAACCTAGGGCCTCCTATCGCATGATCCCCCATGGCCTCCCTCAGCCTCTCTTGGTTTGGGCAGGCATGGCCTCCTCTTCTCTCCAGTCCCCACCC
AGACTGCTCTCCTCCTCTGTCCCCTGCGATCTTCAGCCAACCCGCATGCTGAAAGGGGTGCCGACCTGGGCCCTGGGGGGAGGCATGGAGGGAGGGGTCC
CCAGTGGCTTGGCCTGAAGAAGGTTGACGTCTGCCGTGGCCCAGAGCTGAGTCACCGACCCTGCGTCTGTCCTGTGCAGCTGCCAAGGCTGTCAGCTTTC
CTCAGCAACATGAAGTCTCGGTAAGGGTTCTTCTGTGTCTAGCTGCCGGCCCCTGCCTGTCCTGATCCGAGTCTGGGTCTGGGTAGTTTCTGACAGGAAA
GGACTTGAGGGAAGTAGCCTCTGAGG

Protein Sequence    (SEQ ID NO:1043):
MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTY
VGKAWEVNKGTNCVTSYLADCETQLSQATRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPL
FGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCE
DMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPC
LGDLVSILKLPQWLKGLLAFLVKPLVRAQGVEGLGWLGGNLGPPIA


SNP Information

Context             (SEQ ID NO:6109):
TGAAGGGCTGTGTCTATGGACAGGAGGCAGTGCGTCTCTCCGTGGGCCCCATGGCCCGGGACGTGGAGAGCCTGGCACTGTGCCTGCGAGCCCTGCTGTG
Y
GAGGACATGTTCCGCTTGGACCCCACTGTGCCTCCCTTGCCCTTCAGAGAAGAGGTCTACACCAGCTCTCAGCCCCTGCGTGTGGGGTACTATGAGACTG
Celera SNP ID:            hCV927989
SNP Position Transcript:  985
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,21|T,3)   total(C,49|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 299, (C,TGC)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 299, (C,TGC)   (C,TGT)      299, (C,TGT)   (C,TGC)      



Context             (SEQ ID NO:6110):
CGTGCTCTTCACCTATGTGGGAAAGGCCTGGGAAGTGAACAAAGGGACCAACTGTGTGACCTCCTATCTGGCTGACTGTGAGACTCAGCTGTCTCAGGCC
M
CAAGGCAGGGCCTGCTCTATGGCGTCCCTGTGAGCCTCAAGGAGTGCTTCACCTACAAGGGCCAGGACTCCACGCTGGGCTTGAGCCTGAATGAAGGGGT
Celera SNP ID:            hCV1897306
SNP Position Transcript:  473
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,24)   caucasian(A,6|C,32)   total(A,20|C,56)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 129, (T,ACA)   (P,CCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,23)   caucasian(A,7|C,33)   total(A,20|C,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 129, (T,ACA)   (P,CCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,6)      total(A,6|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 129, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:6111):
AGCTGCAGGGTGCCGTGCCCTTCGTGCACACCAATGTTCCACAGTCCATGTTCAGCTATGACTGCAGTAACCCCCTCTTTGGCCAGACCGTGAACCCATG
R
AAGTCCTCCAAAAGCCCAGGGGGCTCCTCAGGGGGTGAAGGGGCCCTCATCGGGTCTGGAGGCTCCCCCCTGGGCTTAGGCACTGATATCGGAGGCAGCA
Celera SNP ID:            hCV25994208
SNP Position Transcript:  712
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,33)   total(A,1|G,69)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1043, 208, (X,TGA)   (W,TGG)   



Gene Number:                 121
Celera Gene:                 hCG2031699 - 30000061189980
Celera Transcript:           hCT2333432 - 30000061189977
Public Transcript Accession: 
Celera Protein:              hCP1810303 - 197000064952944
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(39013156..39013701)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:347):
CGGCCATTCATACTGCAGTCGGTCAGTATTCGGTTGTTGGATTCAGTGTGCTATCGGACCCAAAGGGTGATGGCACCGCTAGGATGAAGCTCGTGAGATT
TTTGATGAAATTGAGTCATGAAACTGTAACCATTGCATTGAAGAACAGAACACAGGTCCATGGAACAGTCACAGGTGTGGATGTCAGCATGAATACACAT
CTTAAAGCTGTGAAAATGACCCCGAAGAACAGAGAACCTGTACAGCTGGAAACGCTGAGTATTCGAGGAAATAACATTCGGTATTTTATTCTACTAGACA
GTTTACCTCTGGATACACTACTTGTGGATGTTGAACCTAAGGTGAAATCTAAGAAAAGGGAAGCTGTTGCAGRAAGAGGCAGAGGCAGAGGAAGAGGAAG
AGGACGTGGCCGTGGCAGAGGAAGAGGGGGTCCTAGGCGATAATGTCTCTCAGGATTACTGTTTCAAAGTCATACGGGATTTGGGATATTTTTTGTACAG
GTTGTGTTTATGTCAGTTTTTAATAAACATAAAAGTGGGACAAAA

Protein Sequence    (SEQ ID NO:1044):
MKLVRFLMKLSHETVTIALKNRTQVHGTVTGVDVSMNTHLKAVKMTPKNREPVQLETLSIRGNNIRYFILLDSLPLDTLLVDVEPKVKSKKREAVAGRGR
GRGRGRGRGRGRGRGGPRR


SNP Information

Context             (SEQ ID NO:6112):
AACATTCGGTATTTTATTCTACTAGACAGTTTACCTCTGGATACACTACTTGTGGATGTTGAACCTAAGGTGAAATCTAAGAAAAGGGAAGCTGTTGCAG
R
AAGAGGCAGAGGCAGAGGAAGAGGAAGAGGACGTGGCCGTGGCAGAGGAAGAGGGGGTCCTAGGCGATAATGTCTCTCAGGATTACTGTTTCAAAGTCAT
Celera SNP ID:            hCV1254065
SNP Position Transcript:  373
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1044, 97, (E,GAA)   (G,GGA)      



Gene Number:                 122
Celera Gene:                 hCG2031743 - 79000076181111
Celera Transcript:           hCT2333492 - 79000076181112
Public Transcript Accession: 
Celera Protein:              hCP1810458 - 197000064953099
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(42119983..42120819)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:348):
GTGGGCTGGGCCTGGGACTCATGACCCTGCAGCATCTGACCGGCTGACCCAGTGTCCTAGAAAGAACCATTCTTGTCCCAGGTGCATGTAATTTATTAAT
GGAGCTTTGACAGTCACAAGTTCCAGCAAGTCAGGGGTGGGGGCTGCAGGGTGGCCTCTTGCCCTGTAACCACAGTCATCAAATATGCCTCGCCATCTTT
GAGGGGCTTTCCTGAGATGACAGATTCCTTTCTGGCACTGTGTAGCCAACTGGAGTCACAGACCTCAGCCTGGGCCAAATGAGCATTTTAGGGAGAAGGA
CAATCCCTTATAGCTTAGCCCTAGGGGAGCTCTGGGCAGGGTTTTACACATTSTTTCTGAAAGTAAGGTCATTTGGGGACAGGGCTGAGAGCAGTTTCTT
GGCTACACAGATGGGTCTGTCAGGGTTGAAGCCACATGGGTGCCTGCTCATGTGCCATGTTGAAGGAGTCCCTGTCCGCCTCTCAGCAGCCCGCATGGGC
TTTACTGGTTGGCCTTACACTCAAACAGGAAATCCCTGGGTCTCAGGTGGAGAGTGCCGTGCCGTCCTGCCTGCTCCCCAGGGCCCTCACAGGACACAGC
AGGTGCAGGACACAGGCCCGTGCTGCTGCAGCTGCTGCTGGAGCTGCTCCTTCTCCATCATCAGCGCCTTCATCTTCTCTTCCAGCTTGCCCAGCTCCAC
CAGCCACCTCTGAGGGGACATGGGAAAAGCATGTGGCCAAGCCCGCCTGGTCTCGGGCCTGTCCGTCCTCCACCTGGGGCCAAACTGAGGGAGGAAGGCA
AAGCCCAGGAGCCTGAGAGCTTTCTCAGCTAGGGGA

Protein Sequence    (SEQ ID NO:1045):
MSILGRRTIPYSLALGELWAGFYTFFLKVRSFGDRAESSFLATQMGLSGLKPHGCLLMCHVEGVPVRLSAARMGFTGWPYTQTGNPWVSGGECRAVLPAP
QGPHRTQQVQDTGPCCCSCCWSCSFSIISAFIFSSSLPSSTSHL


SNP Information

Context             (SEQ ID NO:6113):
GAGTCACAGACCTCAGCCTGGGCCAAATGAGCATTTTAGGGAGAAGGACAATCCCTTATAGCTTAGCCCTAGGGGAGCTCTGGGCAGGGTTTTACACATT
S
TTTCTGAAAGTAAGGTCATTTGGGGACAGGGCTGAGAGCAGTTTCTTGGCTACACAGATGGGTCTGTCAGGGTTGAAGCCACATGGGTGCCTGCTCATGT
Celera SNP ID:            hCV8361260
SNP Position Transcript:  353
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1045, 25, (F,TTC)   (L,TTG)      



Gene Number:                 123
Celera Gene:                 hCG2031744 - 79000076181116
Celera Transcript:           hCT2333493 - 79000076181117
Public Transcript Accession: 
Celera Protein:              hCP1810459 - 197000064953100
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(42118173..42118749)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:349):
ATGACAGATGACAGGCCCAGAGGCCCTCCTGTCCTGCAGGCTCACCTTGAGGGGGACGCTGGTCTCCGAGGTACTGATCACAGGGATGAAGGTGAGAGTG
TAGGCATCGGGAAAGATCTGAGGCTTGAAGCCCTGCAGGATGGAGTCCACCAGCAGGCGTGCGCGGTCCTCGTCACGGTGGCTGCAGCGGATGCCCTGCA
CCAGGCCGCTGTCCTCTACTCCCACGAGCAGGCTGCCGCCCTCGCTGTTGAGGAAGGCGCACACGTAGCGCCGCACGTGGTGCTTGAAGGCCAGGCTGAG
GTACTCGCCGCTACCCCGCTTGAACTCCATATTGCGGGTCTCGCTGCCCAGGAAGGCACCCTGGAAGAGCTGGTCCTTGCCCACGATCTGCTGGTGCACA
ATGGCACTGTCGGAGCACACGCCGCTGGGCCGGCCCTGGCAGCTCTGCAGCTGCTGGGCCTGGGGCCTATCAGGCAGCGTGTGTGTAGGCCAGGTGGGCA
GCGGGACACCAGAGCCTGKACTGGGGCCAGGGCTCAGGCCACTGTCCTCCTCCTCCTCCTCCTTCTCCTAGGGTGG

Protein Sequence    (SEQ ID NO:1046):
MTDDRPRGPPVLQAHLEGDAGLRGTDHRDEGESVGIGKDLRLEALQDGVHQQACAVLVTVAAADALHQAAVLYSHEQAAALAVEEGAHVAPHVVLEGQAE
VLAATPLELHIAGLAAQEGTLEELVLAHDLLVHNGTVGAHAAGPALAALQLLGLGPIRQRVCRPGGQRDTRAWTGARAQATVLLLLLLLLGW


SNP Information

Context             (SEQ ID NO:6114):
ACGCCGCTGGGCCGGCCCTGGCAGCTCTGCAGCTGCTGGGCCTGGGGCCTATCAGGCAGCGTGTGTGTAGGCCAGGTGGGCAGCGGGACACCAGAGCCTG
K
ACTGGGGCCAGGGCTCAGGCCACTGTCCTCCTCCTCCTCCTCCTTCTCCTAGGGTGG
Celera SNP ID:            hCV25968842
SNP Position Transcript:  519
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1046, 173, (W,TGG)   (C,TGT)   



Gene Number:                 124
Celera Gene:                 hCG2031767 - 84000315002346
Celera Transcript:           hCT2333531 - 84000315002347
Public Transcript Accession: NM_173641
Celera Protein:              hCP1810661 - 197000064953302
Public Protein Accession:    NP_775912
Gene Symbol:                 FLJ33655
Protein Name:                hypothetical protein FLJ33655
Celera Genomic Axis:         GA_x5YUV32W802(45376353..45388919)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:350):
ATGGAGACCTGCGCCGGTCCACACCCGCTGCGCCTCTTCCTCTGCCGGATGCAGCTCTGTCTCGCGCTGCTTTTGGGACCCTGGCGGCCTGGGACCGCCG
AGGAAGGTGAGAAGACTGTGCTGAATTCTGAGCGTAGTCTGCCGGGCGCGCTCCGCGTTGCCGGGTTTGAGGCTGTCGGCGATACTGGAGCCCGCGTCTT
GCCTCTGATTGTGCATTTAGGGGAGCTATACGCTCAGTTGAATCCAGAGGCGTCATATCTAGTTATCCTCCTGGATTCCAAAGCCTCCCAGGCCGAGCTG
GGCTGGACTGCACTGCCAAGTAATGGGTGGGAGGAGATCAGCGGCGTGGATGAACACGACCGTCCCATCCGCACGTACCAAGTGTGCAATGTGCTGGAGC
CCAACCAGGACAACTGGCTGCAGACTGGCTGGATAAGCCGTGGCCGCGGGCAGCGCATCTTCGTGGAACTGCAGTTCACACTCCGTGACTGCAGCAGCAT
CCCTGGCGCCGCGGGTACCTGCAAGGAGACCTTCAACGTCTACTACCTGGAAACTGAGGCCGACCTGGGCCGTGGGCGTCCCCGCCTAGGCGGCAGCCGG
CCCCGCAAAATCGACACGATCGCGGCGGACGAGAGCTTCACGCAGGGCGACMTSGGTGAGCGCAAGATGAAGCTGAACACAGAGGTGCGCGAGATCGGAC
CGCTCAGCCGGCGGGGTTTCCACCTGGCCTTTCAGGACGTGGGCGCATGCGTGGCGCTTGTCTCGGTGCGCGTCTACTACAAGCAGTGCCGCGCCACCGT
GCGGGGCCTGGCCAMGTTCCCAGCCACCGCAGCCGAGRGCGCCTTCTCCACACTGGTGGAAGTGGCCGGAACGTGCGTGGCGCACTCGGAAGGGGAGCCT
GGCAGCCCCCCACGCATGCACTGCGGCGCCGACGGCGAGTGGCTGGTGCCTGTGGGCCGCTGCAGCTGCAGCGCGGGATTCCAGGAGCGTGGTGACWTCT
GCGAAGGGTTTTACAAGGTGTCCCCGCGGCGGCCCCTCTGCTCACCGTGCCCAGAGCACAGCCGGGCCCTGGAAAACGCCTCCACCTTCTGCGTGTGCCA
GGACAGCTATGCGCGCTCACCCACCGACCCGCCCTCGGCTTCCTGCACCCACCCCTCACACCTTCCTATCCCCCATGCCCACTGGCTCCCACGGCCCATT
CCCGCTCATCCATCCCTGTTCCTTCACCGGTCGTCCCTTCTACCTTCCTCCCTGACTGACCCCATGCCACTGTCTCTCCTGTCCCCCGTCCCCCCTCATC
CACCAAGGCCGCCGTCGGCGCCGCGGGACCTGCAGTACAGCCTGAGCCGCTCGCCGCTGGTGCTGCGACTGCGCTGGCTGCCGCCGGCCGACTCGGGAGG
CCGCTCGGACGTCACCTACTCGCTGCTGTGCCTGCGCTGCGGCCGCGAGGGCCCGGCGGGCGCCTGCGAGCCGTGCGGGCCGCGCGTGGCCTTCCTACCG
CGCCAGGCAGGGCTGCGGGAGCGAGCCGCCACGCTGCTGCACCTGCGGCCCGGCGCGCGCTACACCGTGCGCGTGGCCGCGCTCAACGGCGTCTCGGGCC
CGGCGGCCGCCGCGGGAACCACCTACGCGCAGGTCACCGTCTCCACCGGGCCCGGGGGTAAGGCCGTCCGCGCCCCCCACCCCGAGGCCACCGCGCCTGC
CGCCCCTGCGCCCTCTTGGGGCCGCCCCGTCGGTCCTGCGGGAGCCCCACCCACCCACCCCAGAGAAGCCATCCTCTGTACACGCACCCCGCCCCTCTCC
GGGACACAAAGTCACCCCCCCGGACGCCCCAGCGTCAGTCGCCCTCCCGAGTGTGCGAGAGGGACTGAGGATGCAGGCGTCCCCTTACTACTGGGCCAGA
GGGGAGGCGCGCGGTTCTGTTGCGTCTGCGGGAAGCACCTGTGTGCTCGCYTTTCTCCTGGACTCCTTGCACAAAGCCTCTGTCCCGCTCACGGCTCTGC
AGTTGGCCTCGCCGCTGATTTCTCAGGGAAAAAGAGGTGGAAAGTCCCTTAATCTCTTMCCTTCCCTT

Protein Sequence    (SEQ ID NO:1047):
METCAGPHPLRLFLCRMQLCLALLLGPWRPGTAEEGEKTVLNSERSLPGALRVAGFEAVGDTGARVLPLIVHLGELYAQLNPEASYLVILLDSKASQAEL
GWTALPSNGWEEISGVDEHDRPIRTYQVCNVLEPNQDNWLQTGWISRGRGQRIFVELQFTLRDCSSIPGAAGTCKETFNVYYLETEADLGRGRPRLGGSR
PRKIDTIAADESFTQGDLGERKMKLNTEVREIGPLSRRGFHLAFQDVGACVALVSVRVYYKQCRATVRGLATFPATAAESAFSTLVEVAGTCVAHSEGEP
GSPPRMHCGADGEWLVPVGRCSCSAGFQERGDFCEGFYKVSPRRPLCSPCPEHSRALENASTFCVCQDSYARSPTDPPSASCTHPSHLPIPHAHWLPRPI
PAHPSLFLHRSSLLPSSLTDPMPLSLLSPVPPHPPRPPSAPRDLQYSLSRSPLVLRLRWLPPADSGGRSDVTYSLLCLRCGREGPAGACEPCGPRVAFLP
RQAGLRERAATLLHLRPGARYTVRVAALNGVSGPAAAAGTTYAQVTVSTGPGGKAVRAPHPEATAPAAPAPSWGRPVGPAGAPPTHPREAILCTRTPPLS
GTQSHPPGRPSVSRPPECARGTEDAGVPLLLGQRGGARFCCVCGKHLCARFSPGLLAQSLCPAHGSAVGLAADFSGKKRWKVP


SNP Information

Context             (SEQ ID NO:6115):
CGTGGGCGCATGCGTGGCGCTTGTCTCGGTGCGCGTCTACTACAAGCAGTGCCGCGCCACCGTGCGGGGCCTGGCCACGTTCCCAGCCACCGCAGCCGAG
R
GCGCCTTCTCCACACTGGTGGAAGTGGCCGGAACGTGCGTGGCGCACTCGGAAGGGGAGCCTGGCAGCCCCCCACGCATGCACTGCGGCGCCGACGGCGA
Celera SNP ID:            hCV25961644
SNP Position Transcript:  838
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 280, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6116):
TGGACTCCTTGCACAAAGCCTCTGTCCCGCTCACGGCTCTGCAGTTGGCCTCGCCGCTGATTTCTCAGGGAAAAAGAGGTGGAAAGTCCCTTAATCTCTT
M
CCTTCCCTT
Celera SNP ID:            hCV937749
SNP Position Transcript:  2059
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1047, None   



Context             (SEQ ID NO:6117):
CTGAGGCCGACCTGGGCCGTGGGCGTCCCCGCCTAGGCGGCAGCCGGCCCCGCAAAATCGACACGATCGCGGCGGACGAGAGCTTCACGCAGGGCGACCT
S
GGTGAGCGCAAGATGAAGCTGAACACAGAGGTGCGCGAGATCGGACCGCTCAGCCGGCGGGGTTTCCACCTGGCCTTTCAGGACGTGGGCGCATGCGTGG
Celera SNP ID:            hCV25962981
SNP Position Transcript:  654
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(G,38)   total(C,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1047, 218, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:6118):
GTGTGCGAGAGGGACTGAGGATGCAGGCGTCCCCTTACTACTGGGCCAGAGGGGAGGCGCGCGGTTCTGTTGCGTCTGCGGGAAGCACCTGTGTGCTCGC
Y
TTTCTCCTGGACTCCTTGCACAAAGCCTCTGTCCCGCTCACGGCTCTGCAGTTGGCCTCGCCGCTGATTTCTCAGGGAAAAAGAGGTGGAAAGTCCCTTA
Celera SNP ID:            hCV937750
SNP Position Transcript:  1951
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   SC_12_T(C,7|T,14)   SC_12_C(C,9|T,15)   SC_12_TT(C,3|T,18)   SC_95_C(C,52|T,129)   total(C,71|T,176)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 651, (L,CTT)   (F,TTT)      651, (F,TTT)   (L,CTT)      



Context             (SEQ ID NO:6119):
GGTTTCCACCTGGCCTTTCAGGACGTGGGCGCATGCGTGGCGCTTGTCTCGGTGCGCGTCTACTACAAGCAGTGCCGCGCCACCGTGCGGGGCCTGGCCA
M
GTTCCCAGCCACCGCAGCCGAGAGCGCCTTCTCCACACTGGTGGAAGTGGCCGGAACGTGCGTGGCGCACTCGGAAGGGGAGCCTGGCAGCCCCCCACGC
Celera SNP ID:            hCV25961695
SNP Position Transcript:  815
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,35)   caucasian(C,40)   total(A,3|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 272, (K,AAG)   (T,ACG)   



Context             (SEQ ID NO:6120):
AACTGAGGCCGACCTGGGCCGTGGGCGTCCCCGCCTAGGCGGCAGCCGGCCCCGCAAAATCGACACGATCGCGGCGGACGAGAGCTTCACGCAGGGCGAC
M
TGGGTGAGCGCAAGATGAAGCTGAACACAGAGGTGCGCGAGATCGGACCGCTCAGCCGGCGGGGTTTCCACCTGGCCTTTCAGGACGTGGGCGCATGCGT
Celera SNP ID:            hCV25990847
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(A,1|C,23)   total(A,1|C,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 218, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:6121):
GCCTGGCAGCCCCCCACGCATGCACTGCGGCGCCGACGGCGAGTGGCTGGTGCCTGTGGGCCGCTGCAGCTGCAGCGCGGGATTCCAGGAGCGTGGTGAC
W
TCTGCGAAGGGTTTTACAAGGTGTCCCCGCGGCGGCCCCTCTGCTCACCGTGCCCAGAGCACAGCCGGGCCCTGGAAAACGCCTCCACCTTCTGCGTGTG
Celera SNP ID:            hCV25969074
SNP Position Transcript:  997
SNP Source:               Applera
Population(Allele,Count): african american(A,14|T,24)   caucasian(A,11|T,29)   total(A,25|T,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 333, (I,ATC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1047, 333, (I,ATC)   (F,TTC)      



Gene Number:                 125
Celera Gene:                 hCG2031782 - 104000117834672
Celera Transcript:           hCT2333576 - 104000117834700
Public Transcript Accession: NM_006824
Celera Protein:              hCP1810359 - 197000064953000
Public Protein Accession:    NP_006815
Gene Symbol:                 EBNA1BP2
Protein Name:                EBNA1 binding protein 2;EBP2;NOBP;P40
Celera Genomic Axis:         GA_x5YUV32W802(39961782..39972971)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:351):
TATACTGATGTGTGTGTCTGTATCTATATGTATGTATATATACTATGTATATATACATGTACATATAGTATATGGTGTGTGTATATATGGTGTGTATTTT
ATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACWCGCCCTCCCCGCCCTTTGCTCCT
CCCCTTGTCTCTCCCCTTKCYCCTCCCCTTGTCYCTCCCCTTKCCCCTCCCCTTGYCCCTCCCCYCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCA
CCCCACCCCCGCGGCTCCTTTTTCTGCCTYTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTC
TCTCTGGGTCAGCAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCAACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAGCAAC
GACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGGRGCGATTCGGTGGCACGT
GGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCYCTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGT
AGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCGGAATCCGATGAATCCCTTGTCACAGACAGAGAGTTGCAGGAT
GCGTTTTCCCGAGGGCTTCTGAAGCCAGGCCTCAATGTCGTGCTAGAGGGGCCGAAGAAGGCCCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGG
CAAGAAAGGGTCAAATAAGAGACCKGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACMCMCTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAA
GGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGA
ACAMATACCTTTGGTTAAATAGTYTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCAT
TTTATGATAAATAATGATTTAACTGACA

Protein Sequence    (SEQ ID NO:1048):
MYVYILCIYTCTYSIWCVYIWCVFYTYICIWCMCIDTYTHTAPTPPPARTRPPRPLLLPLSLPFLLPLSLPFPLPLSLPSPSPPPGSSSAPPHPRGSFFC
LFLCTLTATSSFWRPPGTPSHLSFLSGSADHACIQRRYL


SNP Information

Context             (SEQ ID NO:6122):
GCCCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAAC
M
CACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAA
Celera SNP ID:            hCV12109110
SNP Position Transcript:  961
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   TSC_42_A(C,0|A,84)   TSC_42_C(C,0|A,84)   TSC_42_AA(C,0|A,84)   total(A,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6123):
CCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACAC
M
CTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAAC
Celera SNP ID:            hCV12109111
SNP Position Transcript:  963
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6124):
ATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACA
M
ATACCTTTGGTTAAATAGTCTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTA
Celera SNP ID:            hCV12109112
SNP Position Transcript:  1104
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6125):
GACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACACATACCTTTGGTTAAATAGT
Y
TAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTAACT
Celera SNP ID:            hCV12109113
SNP Position Transcript:  1124
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,33|T,1)   total(C,63|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6126):
TGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCT
Y
TTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTCTCTCTGGGTCAGCAGACCACGCATGTATCC
Celera SNP ID:            hCV8375285
SNP Position Transcript:  330
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1048, 101, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:6127):
GGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTT
K
CTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCT
Celera SNP ID:            hCV16168932
SNP Position Transcript:  219
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1048, 64, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:6128):
AGTAGCTGTGAGTTGCTGGCGCTGGAGCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCC
Y
CTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGTAGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCG
Celera SNP ID:            hCV8375277
SNP Position Transcript:  658
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,32)   total(C,2|T,64)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(T,-|C,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6129):
AGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGG
R
GCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCTCTGCTAGCCGCTTGGGTCTCGGGAT
Celera SNP ID:            hCV8375278
SNP Position Transcript:  583
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,26|G,12)   total(A,58|G,16)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None   



Context             (SEQ ID NO:6130):
CCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCC
Y
CCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTG
Celera SNP ID:            hCV8375286
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1048, 80, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6131):
TGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTC
Y
CCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTT
Celera SNP ID:            hCV8375294
SNP Position Transcript:  221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1048, 65, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6132):
ATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTC
Y
CTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCC
Celera SNP ID:            hCV16168933
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1048, 69, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:6133):
CACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTT
K
CCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCC
Celera SNP ID:            hCV8375287
SNP Position Transcript:  243
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1048, 72, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:6134):
GTGTGTATATATGGTGTGTATTTTATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGAC
W
CGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTC
Celera SNP ID:            hCV16168935
SNP Position Transcript:  177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1048, 50, (T,ACA)   (T,ACT)      



Context             (SEQ ID NO:6135):
GACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTG
Y
CCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAG
Celera SNP ID:            hCV16185881
SNP Position Transcript:  256
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1048, 77, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6136):
CCAGGCCTCAATGTCGTGCTAGAGGGGCCGAAGAAGGCCCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACC
K
GGAAAACGAACAAGAGAGAAGATGAAGAACAGAACACACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGA
Celera SNP ID:            hCV25967803
SNP Position Transcript:  925
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,27)   caucasian(G,1|T,35)   total(G,10|T,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None

SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(T,28)   total(G,7|T,51)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1048, None



Gene Number:                 125
Celera Gene:                 hCG2031782 - 104000117834672
Celera Transcript:           hCT2333572 - 104000117834717
Public Transcript Accession: NM_006824
Celera Protein:              hCP1810362 - 197000064953003
Public Protein Accession:    NP_006815
Gene Symbol:                 EBNA1BP2
Protein Name:                EBNA1 binding protein 2;EBP2;NOBP;P40
Celera Genomic Axis:         GA_x5YUV32W802(39875233..39972971)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:352):
TGTTGTATAGTATTGTGTCCAGAATTGGTTCCTTCCGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCCACGGACCCTTGCGTCACAAGCACCTC
TTCGGCAAAGCCCACCTCCCTCTCTCGCTTGATTCCCCGGCCATCCTTATCAAAGACCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAG
CTGGGACTACAGTGATTTCCTGAAGGAAATATAATGATCTGTTCATCGAAGTAGAAGATATTGTTGGCCACGTGGGATCGAAGACCAAAWACATGCAGCG
TCTGAGCTACMACGGCTGACATGATCTCCCGCCAAASAGTTCTGCTGAAGACCAAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCA
ACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAG
TAGCTGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCGGAATCCGATGAATCCCTTGTCACAGACAGAGAGTTGCAG
GATGCGTTTTCCCGAGGGCTTCTGAAGCCAGGCCTCAATGTCGTGCTAGAGGGGCCGAAGAAGGCCGTGAACGACGTGAATGGCCTGAAGCAATGTTTGG
CAGAATTCAAGCGGGATCTGGAATGGGTTGAAAGGCTCGATGTGACACTGGGTCCGGTACCGGAGATCGGTGGATCTGAGGCGCCAGCACCTCAGAACAA
GGACCAGAAAGCTGTTGATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCTATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCAT
CAGCTCAAAGTCCCTACSAAGCGACCCACTGATTATTTTGCGGAAATGGCCAAATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAAC
AGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGCAAACGGAGGTTCTTCAGAAGAGGCAGCAGGA
GAAAGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATAAACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGCRCAAG
AAGGCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACGGTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGCTCAA
AGTGGAACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAA
GAGACCKGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACMCMCTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAAT
TTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACAMATACCTTTGGTTAA
ATAGTYTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGAT
TTAACTGACA

Protein Sequence    (SEQ ID NO:1049):
MYPEALPVGILSNPDTFKRRSGSYSNDKPEVWFAAGSGSPNQKLSSSCVGRACGEMDTPPLSDSESESDESLVTDRELQDAFSRGLLKPGLNVVLEGPKK
AVNDVNGLKQCLAEFKRDLEWVERLDVTLGPVPEIGGSEAPAPQNKDQKAVDPEDDFQREMSFYRQAQAAVLAVLPRLHQLKVPTKRPTDYFAEMAKSDL
QMQKIRQKLQTKQAAMERSEKAKQLRALRKYGKKVQTEVLQKRQQEKAHMMNAIKKYQKGFSDKLDFLEGDQKPLAQRKKAGAKGQQMRKGPSAKRRYKN
QKFGFGGKKKGSKWNTRESYDDVSSFRAKTAHGRGLKRPGKKGSNKRPGKRTREKMKNRTH


SNP Information

Context             (SEQ ID NO:6137):
GACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACACATACCTTTGGTTAAATAGT
Y
TAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTAACT
Celera SNP ID:            hCV12109113
SNP Position Transcript:  1606
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,33|T,1)   total(C,63|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1049, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1049, None   



Context             (SEQ ID NO:6138):
ATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCTATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCATCAGCTCAAAGTCCCTAC
S
AAGCGACCCACTGATTATTTTGCGGAAATGGCCAAATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGT
Celera SNP ID:            hCV8375268
SNP Position Transcript:  918
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,12|G,28)   total(C,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1049, 185, (T,ACC)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;SC_12_C(G,7|C,8)   total(G,7|C,8)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1049, 185, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:6139):
AGTGATTTCCTGAAGGAAATATAATGATCTGTTCATCGAAGTAGAAGATATTGTTGGCCACGTGGGATCGAAGACCAAAAACATGCAGCGTCTGAGCTAC
M
ACGGCTGACATGATCTCCCGCCAAACAGTTCTGCTGAAGACCAAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCAACCCGGACACT
Celera SNP ID:            hCV27851990
SNP Position Transcript:  311
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,31)   caucasian(A,1|C,39)   total(A,6|C,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1049, None



Context             (SEQ ID NO:6140):
ATCTGTTCATCGAAGTAGAAGATATTGTTGGCCACGTGGGATCGAAGACCAAAAACATGCAGCGTCTGAGCTACCACGGCTGACATGATCTCCCGCCAAA
S
AGTTCTGCTGAAGACCAAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCAACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAG
Celera SNP ID:            hCV8375295
SNP Position Transcript:  337
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1049, None   



Context             (SEQ ID NO:6141):
CTCCCGAGTAGCTGGGACTACAGTGATTTCCTGAAGGAAATATAATGATCTGTTCATCGAAGTAGAAGATATTGTTGGCCACGTGGGATCGAAGACCAAA
W
ACATGCAGCGTCTGAGCTACCACGGCTGACATGATCTCCCGCCAAACAGTTCTGCTGAAGACCAAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGG
Celera SNP ID:            hCV8375296
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,28|T,12)   total(A,62|T,16)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1049, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1049, None   



Context             (SEQ ID NO:6142):
CAGGAGAAAGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATAAACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGC
R
CAAGAAGGCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACGGTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGC
Celera SNP ID:            hCV8375240
SNP Position Transcript:  1196
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1049, 278, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6143):
GGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAAC
M
CACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAA
Celera SNP ID:            hCV12109110
SNP Position Transcript:  1443
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   TSC_42_A(C,0|A,84)   TSC_42_C(C,0|A,84)   TSC_42_AA(C,0|A,84)   total(A,252)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1049, 360, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:6144):
GCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACAC
M
CTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAAC
Celera SNP ID:            hCV12109111
SNP Position Transcript:  1445
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1049, 361, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:6145):
ACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACC
K
GGAAAACGAACAAGAGAGAAGATGAAGAACAGAACACACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGA
Celera SNP ID:            hCV25967803
SNP Position Transcript:  1407
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,27)   caucasian(G,1|T,35)   total(G,10|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1049, 348, (P,CCG)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(T,28)   total(G,7|T,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1049, 348, (P,CCG)   (P,CCT)   



Context             (SEQ ID NO:6146):
ATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACA
M
ATACCTTTGGTTAAATAGTCTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTA
Celera SNP ID:            hCV12109112
SNP Position Transcript:  1586
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1049, None   



Gene Number:                 125
Celera Gene:                 hCG2031782 - 104000117834672
Celera Transcript:           hCT2333577 - 104000117834709
Public Transcript Accession: NM_006824
Celera Protein:              hCP1810360 - 197000064953001
Public Protein Accession:    NP_006815
Gene Symbol:                 EBNA1BP2
Protein Name:                EBNA1 binding protein 2;EBP2;NOBP;P40
Celera Genomic Axis:         GA_x5YUV32W802(39961782..39965961)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:353):
TATACTGATGTGTGTGTCTGTATCTATATGTATGTATATATACTATGTATATATACATGTACATATAGTATATGGTGTGTGTATATATGGTGTGTATTTT
ATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACWCGCCCTCCCCGCCCTTTGCTCCT
CCCCTTGTCTCTCCCCTTKCYCCTCCCCTTGTCYCTCCCCTTKCCCCTCCCCTTGYCCCTCCCCYCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCA
CCCCACCCCCGCGGCTCCTTTTTCTGCCTYTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTC
TCTCTGGGTCAGCAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCAACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAGCAAC
GACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGGRGCGATTCGGTGGCACGT
GGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCYCTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGT
AGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCGGAATCCGATGAATCCCTTGTCACAGACAGAGAGTTGCAGGAT
GCGTTTTCCCGAGGGCTTCTGAAGCCAGGCCTCAATGTCGTGCTAGAGGGGCCGAAGAAGGCCGTGAACGACGTGAATGGCCTGAAGCAATGTTTGGCAG
AATTCAAGCGGGATCTGGAATGGGTTGAAAGGCTCGATGTGACACTGGGTCCGGTACCGGAGATCGGTGGATCTGAGGCGCCAGCACCTCAGAACAAGGA
CCAGAAAGCTGTTGATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTGTATGTTTGTTTTCAAATGTTGGAGAAGTTGAGGATCCTTGTGCAGGAGAGT
GGGAAAGAGGGGAAATTAGTAAGTCTGCACTCAGAATAAGCCTAGGAGTAGAGAGAGCGGCTTCTTTTGACTAAGAATAGCTAGGAGATTCTTCCTGTTT
GAGAGAAGAGCTCTTTGGTCCACRGTCACGATCCAAAATCCACTTTATGGGCTAATTTGAAATATTCATGTTAAAACTTTTTGTGCATGCTTCAGTTATT
AGGAAAACAAACAAACAAACATTGCTTATGGGATG

Protein Sequence    (SEQ ID NO:1050):
MVCVYMVCILYVYMYMVYVYRYIHTHSSDPAPGPDSPSPPFAPPLVSPLSPPLVPPLSPPLVPPLPFPSPGVLLRATPPPRLLFLPFPLYPHCYQLLLAT
PRYPLPPFVSLWVSRPRMYPEALPVGILSNPDTFKRRSGSYSNDKPEVWFAAGSGSPNQKLSSSCELLALERFGGTWSHGVGVGG


SNP Information

Context             (SEQ ID NO:6147):
TCTGCACTCAGAATAAGCCTAGGAGTAGAGAGAGCGGCTTCTTTTGACTAAGAATAGCTAGGAGATTCTTCCTGTTTGAGAGAAGAGCTCTTTGGTCCAC
R
GTCACGATCCAAAATCCACTTTATGGGCTAATTTGAAATATTCATGTTAAAACTTTTTGTGCATGCTTCAGTTATTAGGAAAACAAACAAACAAACATTG
Celera SNP ID:            hCV26468339
SNP Position Transcript:  1224
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1050, None   



Context             (SEQ ID NO:6148):
GGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTT
K
CTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCT
Celera SNP ID:            hCV16168932
SNP Position Transcript:  219
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 50, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:6149):
TGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCT
Y
TTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTCTCTCTGGGTCAGCAGACCACGCATGTATCC
Celera SNP ID:            hCV8375285
SNP Position Transcript:  330
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 87, (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:6150):
AGTAGCTGTGAGTTGCTGGCGCTGGAGCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCC
Y
CTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGTAGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCG
Celera SNP ID:            hCV8375277
SNP Position Transcript:  658
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,32)   total(C,2|T,64)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1050, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(T,-|C,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1050, None   



Context             (SEQ ID NO:6151):
TGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTC
Y
CCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTT
Celera SNP ID:            hCV8375294
SNP Position Transcript:  221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1050, 50, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:6152):
ATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTC
Y
CTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCC
Celera SNP ID:            hCV16168933
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 55, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:6153):
CCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCC
Y
CCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTG
Celera SNP ID:            hCV8375286
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 65, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6154):
AGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGG
R
GCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCTCTGCTAGCCGCTTGGGTCTCGGGAT
Celera SNP ID:            hCV8375278
SNP Position Transcript:  583
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,26|G,12)   total(A,58|G,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 171, (E,GAG)   (G,GGG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 171, (E,GAG)   (G,GGG)      171, (G,GGG)   (E,GAG)      



Context             (SEQ ID NO:6155):
CACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTT
K
CCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCC
Celera SNP ID:            hCV8375287
SNP Position Transcript:  243
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 58, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:6156):
GTGTGTATATATGGTGTGTATTTTATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGAC
W
CGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTC
Celera SNP ID:            hCV16168935
SNP Position Transcript:  177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 36, (T,ACG)   (S,TCG)      



Context             (SEQ ID NO:6157):
GACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTG
Y
CCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAG
Celera SNP ID:            hCV16185881
SNP Position Transcript:  256
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1050, 62, (A,GCC)   (V,GTC)      



Gene Number:                 125
Celera Gene:                 hCG2031782 - 104000117834672
Celera Transcript:           hCT2333571 - 104000117834687
Public Transcript Accession: NM_006824
Celera Protein:              hCP1810358 - 197000064952999
Public Protein Accession:    NP_006815
Gene Symbol:                 EBNA1BP2
Protein Name:                EBNA1 binding protein 2;EBP2;NOBP;P40
Celera Genomic Axis:         GA_x5YUV32W802(39964459..39972971)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:354):
GCTCCGACCCCGCCCCCGGCCCGGACWCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTKCYCCTCCCCTTGTCYCTCCCCTTKCCCCTCC
CCTTGYCCCTCCCCYCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTYTTCCTTTGTACCCTCACTGC
TACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTCTCTCTGGGTCAGCAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGA
TCCTAAGCAACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAA
GTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGGRGCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGG
GCCGCCCYCTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGTAGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATT
CGGAGTCGGAATCCGATGAATCCCTTGTCACAGACAGAGAGTTGCAGGATGCGTTTTCCCGAGGGCTTCTGAAGCCAGGCCTCAATGTCGTGCTAGAGGG
GCCGAAGAAGGCCGTGAACGACGTGAATGGCCTGAAGCAATGTTTGGCAGAATTCAAGCGGGATCTGGAATGGGTTGAAAGGCTCGATGTGACACTGGGT
CCGGTACCGGAGATCGGTGGATCTGAGGCGCCAGCACCTCAGAACAAGGACCAGAAAGCTGTTGATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCT
ATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCATCAGCTCAAAGTCCCTACSAAGCGACCCACTGATTATTTTGCGGAAATGGCCAA
ATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAA
TACGGGAAGAAGGTGCAAACGGAGGTTCTTCAGAAGAGGCAGCAGGAGAAAGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATA
AACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGCRCAAGAAGGCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACG
GTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGCTCAAAGTGGAACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACA
GCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCKGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACMCMCTAAATAG
CATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTT
CAATAAACTAAAGAAAAATTATTAAAGGAACAMATACCTTTGGTTAAATAGTYTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAA
TTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTAACTGACA

Protein Sequence    (SEQ ID NO:1051):
MDTPPLSDSESESDESLVTDRELQDAFSRGLLKPGLNVVLEGPKKAVNDVNGLKQCLAEFKRDLEWVERLDVTLGPVPEIGGSEAPAPQNKDQKAVDPED
DFQREMSFYRQAQAAVLAVLPRLHQLKVPTKRPTDYFAEMAKSDLQMQKIRQKLQTKQAAMERSEKAKQLRALRKYGKKVQTEVLQKRQQEKAHMMNAIK
KYQKGFSDKLDFLEGDQKPLAQRKKAGAKGQQMRKGPSAKRRYKNQKFGFGGKKKGSKWNTRESYDDVSSFRAKTAHGRGLKRPGKKGSNKRPGKRTREK
MKNRTH


SNP Information

Context             (SEQ ID NO:6158):
ATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCTATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCATCAGCTCAAAGTCCCTAC
S
AAGCGACCCACTGATTATTTTGCGGAAATGGCCAAATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGT
Celera SNP ID:            hCV8375268
SNP Position Transcript:  965
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,12|G,28)   total(C,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1051, 130, (T,ACC)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;SC_12_C(G,7|C,8)   total(G,7|C,8)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1051, 130, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:6159):
AGTAGCTGTGAGTTGCTGGCGCTGGAGCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCC
Y
CTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGTAGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCG
Celera SNP ID:            hCV8375277
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,32)   total(C,2|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(T,-|C,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6160):
TGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCT
Y
TTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTCTCTCTGGGTCAGCAGACCACGCATGTATCC
Celera SNP ID:            hCV8375285
SNP Position Transcript:  180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6161):
GCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTT
K
CTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCT
Celera SNP ID:            hCV16168932
SNP Position Transcript:  69
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6162):
AGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGG
R
GCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCTCTGCTAGCCGCTTGGGTCTCGGGAT
Celera SNP ID:            hCV8375278
SNP Position Transcript:  433
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,26|G,12)   total(A,58|G,16)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6163):
CCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCC
Y
CCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTG
Celera SNP ID:            hCV8375286
SNP Position Transcript:  115
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6164):
GCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTC
Y
CTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCC
Celera SNP ID:            hCV16168933
SNP Position Transcript:  84
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6165):
GCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTC
Y
CCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTT
Celera SNP ID:            hCV8375294
SNP Position Transcript:  71
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6166):
GCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTT
K
CCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCC
Celera SNP ID:            hCV8375287
SNP Position Transcript:  93
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6167):
GCTCCGACCCCGCCCCCGGCCCGGAC
W
CGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTC
Celera SNP ID:            hCV16168935
SNP Position Transcript:  27
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6168):
GACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTG
Y
CCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAG
Celera SNP ID:            hCV16185881
SNP Position Transcript:  106
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6169):
ACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACC
K
GGAAAACGAACAAGAGAGAAGATGAAGAACAGAACACACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGA
Celera SNP ID:            hCV25967803
SNP Position Transcript:  1454
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,27)   caucasian(G,1|T,35)   total(G,10|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1051, 293, (P,CCG)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(T,28)   total(G,7|T,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1051, 293, (P,CCG)   (P,CCT)   



Context             (SEQ ID NO:6170):
GGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAAC
M
CACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAA
Celera SNP ID:            hCV12109110
SNP Position Transcript:  1490
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   TSC_42_A(C,0|A,84)   TSC_42_C(C,0|A,84)   TSC_42_AA(C,0|A,84)   total(A,252)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1051, 305, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:6171):
GCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACAC
M
CTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAAC
Celera SNP ID:            hCV12109111
SNP Position Transcript:  1492
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1051, 306, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:6172):
ATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACA
M
ATACCTTTGGTTAAATAGTCTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTA
Celera SNP ID:            hCV12109112
SNP Position Transcript:  1633
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6173):
GACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACACATACCTTTGGTTAAATAGT
Y
TAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTAACT
Celera SNP ID:            hCV12109113
SNP Position Transcript:  1653
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,33|T,1)   total(C,63|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1051, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1051, None   



Context             (SEQ ID NO:6174):
CAGGAGAAAGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATAAACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGC
R
CAAGAAGGCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACGGTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGC
Celera SNP ID:            hCV8375240
SNP Position Transcript:  1243
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1051, 223, (H,CAC)   (R,CGC)      



Gene Number:                 125
Celera Gene:                 hCG2031782 - 104000117834672
Celera Transcript:           hCT2333574 - 104000117834673
Public Transcript Accession: NM_006824
Celera Protein:              hCP1810357 - 197000064952998
Public Protein Accession:    NP_006815
Gene Symbol:                 EBNA1BP2
Protein Name:                EBNA1 binding protein 2;EBP2;NOBP;P40
Celera Genomic Axis:         GA_x5YUV32W802(39961782..39972971)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:355):
TATACTGATGTGTGTGTCTGTATCTATATGTATGTATATATACTATGTATATATACATGTACATATAGTATATGGTGTGTGTATATATGGTGTGTATTTT
ATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACWCGCCCTCCCCGCCCTTTGCTCCT
CCCCTTGTCTCTCCCCTTKCYCCTCCCCTTGTCYCTCCCCTTKCCCCTCCCCTTGYCCCTCCCCYCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCA
CCCCACCCCCGCGGCTCCTTTTTCTGCCTYTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTC
TCTCTGGGTCAGCAGACCACGCATGTATCCAGAGGCGCTACCTGTAGGGATCCTAAGCAACCCGGACACTTTCAAACGCCGTAGCGGTTCCTATAGCAAC
GACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGGRGCGATTCGGTGGCACGT
GGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCYCTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGT
AGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCGGAATCCGATGAATCCCTTGTCACAGACAGAGAGTTGCAGGAT
GCGTTTTCCCGAGGGCTTCTGAAGCCAGGCCTCAATGTCGTGCTAGAGGGGCCGAAGAAGGCCGTGAACGACGTGAATGGCCTGAAGCAATGTTTGGCAG
AATTCAAGCGGGATCTGGAATGGGTTGAAAGGCTCGATGTGACACTGGGTCCGGTACCGGAGATCGGTGGATCTGAGGCGCCAGCACCTCAGAACAAGGA
CCAGAAAGCTGTTGATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCTATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCATCAG
CTCAAAGTCCCTACSAAGCGACCCACTGATTATTTTGCGGAAATGGCCAAATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAACAGG
CTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGCAAACGGAGGTTCTTCAGAAGAGGCAGCAGGAGAA
AGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATAAACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGCRCAAGAAG
GCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACGGTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGCTCAAAGT
GGAACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAG
ACCKGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACMCMCTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTC
ACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACAMATACCTTTGGTTAAATA
GTYTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTA
ACTGACA

Protein Sequence    (SEQ ID NO:1052):
MDTPPLSDSESESDESLVTDRELQDAFSRGLLKPGLNVVLEGPKKAVNDVNGLKQCLAEFKRDLEWVERLDVTLGPVPEIGGSEAPAPQNKDQKAVDPED
DFQREMSFYRQAQAAVLAVLPRLHQLKVPTKRPTDYFAEMAKSDLQMQKIRQKLQTKQAAMERSEKAKQLRALRKYGKKVQTEVLQKRQQEKAHMMNAIK
KYQKGFSDKLDFLEGDQKPLAQRKKAGAKGQQMRKGPSAKRRYKNQKFGFGGKKKGSKWNTRESYDDVSSFRAKTAHGRGLKRPGKKGSNKRPGKRTREK
MKNRTH


SNP Information

Context             (SEQ ID NO:6175):
ATCCAGAAGACGACTTCCAGCGAGAGATGAGTTTCTATCGCCAAGCCCAGGCCGCAGTGCTTGCAGTCTTACCCCGCCTCCATCAGCTCAAAGTCCCTAC
S
AAGCGACCCACTGATTATTTTGCGGAAATGGCCAAATCTGATCTGCAGATGCAGAAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGT
Celera SNP ID:            hCV8375268
SNP Position Transcript:  1115
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,12|G,28)   total(C,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1052, 130, (T,ACC)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;SC_12_C(G,7|C,8)   total(G,7|C,8)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1052, 130, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:6176):
AGTAGCTGTGAGTTGCTGGCGCTGGAGCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCC
Y
CTGCTAGCCGCTTGGGTCTCGGGATACCCCGTTTCTTCCTGTAGGTGTGGGACGTGCGTGCGGCGAGATGGACACTCCCCCGCTCTCGGATTCGGAGTCG
Celera SNP ID:            hCV8375277
SNP Position Transcript:  658
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,32)   total(C,2|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(T,-|C,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6177):
TGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCT
Y
TTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTGGCGACCCCCAGGTACCCCCTCCCACCTTTCGTTTCTCTCTGGGTCAGCAGACCACGCATGTATCC
Celera SNP ID:            hCV8375285
SNP Position Transcript:  330
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6178):
GGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTT
K
CTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCT
Celera SNP ID:            hCV16168932
SNP Position Transcript:  219
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6179):
AGCGGTTCCTATAGCAACGACAAACCGGAAGTATGGTTTGCCGCCGGAAGCGGAAGTCCCAATCAAAAGTTGAGCAGTAGCTGTGAGTTGCTGGCGCTGG
R
GCGATTCGGTGGCACGTGGAGCCACGGCGTGGGAGTAGGGGGCTGAAGGCAGGCAGCAGCGGCCAGGGCCGCCCTCTGCTAGCCGCTTGGGTCTCGGGAT
Celera SNP ID:            hCV8375278
SNP Position Transcript:  583
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,26|G,12)   total(A,58|G,16)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6180):
CCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCC
Y
CCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAGCTCCTTCTG
Celera SNP ID:            hCV8375286
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6181):
ATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTC
Y
CTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCC
Celera SNP ID:            hCV16168933
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6182):
TGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTC
Y
CCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTT
Celera SNP ID:            hCV8375294
SNP Position Transcript:  221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6183):
CACACACAGCTCCGACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTT
K
CCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCC
Celera SNP ID:            hCV8375287
SNP Position Transcript:  243
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6184):
GTGTGTATATATGGTGTGTATTTTATACGTATATATGTATATGGTGTATGTGTATAGATACATACACACACACAGCTCCGACCCCGCCCCCGGCCCGGAC
W
CGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTGTCCCTCCCCTCCCCTTCCCCTC
Celera SNP ID:            hCV16168935
SNP Position Transcript:  177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6185):
GACCCCGCCCCCGGCCCGGACTCGCCCTCCCCGCCCTTTGCTCCTCCCCTTGTCTCTCCCCTTTCTCCTCCCCTTGTCCCTCCCCTTTCCCCTCCCCTTG
Y
CCCTCCCCTCCCCTTCCCCTCCCCCGGGGTCCTCCTCCGCGCCACCCCACCCCCGCGGCTCCTTTTTCTGCCTTTTCCTTTGTACCCTCACTGCTACCAG
Celera SNP ID:            hCV16185881
SNP Position Transcript:  256
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6186):
ACACTCGGGAGAGCTATGATGATGTATCTAGCTTCCGGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACC
K
GGAAAACGAACAAGAGAGAAGATGAAGAACAGAACACACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGA
Celera SNP ID:            hCV25967803
SNP Position Transcript:  1604
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,27)   caucasian(G,1|T,35)   total(G,10|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1052, 293, (P,CCG)   (P,CCT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(T,28)   total(G,7|T,51)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1052, 293, (P,CCG)   (P,CCT)   



Context             (SEQ ID NO:6187):
GGGCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAAC
M
CACTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAA
Celera SNP ID:            hCV12109110
SNP Position Transcript:  1640
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   TSC_42_A(C,0|A,84)   TSC_42_C(C,0|A,84)   TSC_42_AA(C,0|A,84)   total(A,252)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1052, 305, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:6188):
GCCAAGACAGCTCATGGCAGAGGCCTCAAGAGGCCTGGCAAGAAAGGGTCAAATAAGAGACCTGGAAAACGAACAAGAGAGAAGATGAAGAACAGAACAC
M
CTAAATAGCATCTTTGAATACAAAGAACCAAGAAAAAGGAATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAAC
Celera SNP ID:            hCV12109111
SNP Position Transcript:  1642
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1052, 306, (H,CAC)   (P,CCC)      



Context             (SEQ ID NO:6189):
ATGAAGACTCGCAATTTCACGACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACA
M
ATACCTTTGGTTAAATAGTCTAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTA
Celera SNP ID:            hCV12109112
SNP Position Transcript:  1783
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6190):
GACACACTTTGATCCCTTCTGTTGGTGTCATGTTGTAAACATTTCTTTCAATAAACTAAAGAAAAATTATTAAAGGAACACATACCTTTGGTTAAATAGT
Y
TAGACTAAAAGATTGAGAAGTTACTTTCCATTGCTATCTATTGATAATTTAGACATTGAGTTCAAATTGCCTTCATTTTATGATAAATAATGATTTAACT
Celera SNP ID:            hCV12109113
SNP Position Transcript:  1803
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,33|T,1)   total(C,63|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1052, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1052, None   



Context             (SEQ ID NO:6191):
CAGGAGAAAGCCCATATGATGAATGCTATTAAGAAATATCAGAAAGGCTTCTCTGATAAACTGGATTTCCTTGAGGGAGATCAGAAACCTCTGGCACAGC
R
CAAGAAGGCAGGAGCCAAAGGCCAGCAGATGAGGAAGGGGCCCAGTGCTAAACGACGGTATAAAAACCAGAAGTTTGGTTTTGGTGGAAAGAAGAAAGGC
Celera SNP ID:            hCV8375240
SNP Position Transcript:  1393
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1052, 223, (H,CAC)   (R,CGC)      



Gene Number:                 126
Celera Gene:                 hCG2031865 - 30000023461306
Celera Transcript:           hCT2333728 - 30000023461308
Public Transcript Accession: NM_173484
Celera Protein:              hCP1810236 - 30000023461302
Public Protein Accession:    NP_775755
Gene Symbol:                 FLJ40160
Protein Name:                hypothetical protein FLJ40160
Celera Genomic Axis:         GA_x5YUV32W802(39000650..39016902)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:356):
GCCGTGGTGGCTGGTTCCCTGTCTCTTCAGTAGAGAGTCTAGACCCCACCCAGTCTTCATGTACGGCCGACCGCAGGCTGAGATGGAACAGGAGGCTGGG
GAGCTGAGCCGGTGGCAGGCGGCGCACCAGGCTGCCCAGGATAACGWGAACTCAGCGCCCATCTTGAACATGTCTTCATCTTCTGGAAGCTCTGGAGTGC
ACACCTCTTGGASCCAAGGCCTACCAACCATTCAGCACTTTCCTCACAGCGCAGAGATGCTGGGGTCCCCTTTGGTGTCTGTKGAGGCGCCGGGGCAGAA
TGTGAATGAAGGGGGGCCACAGTTCAGTATGCCACTGCCTGAGCGTGGTATGAGCTACTGCCCCCAAGCGACTCTCACTCCTTCCCGGATGATTTACTGT
CAGAGAATGTCTCCCCCTCAGCAAGAGATGACGATTTTCAGTGGGCCCCAACTAATGCCCGTAGGAGAGCCCAATATTCCAAGGGTAGCCAGGCCCTTCG
GTGGGAATCRAAGGATGCCCCCCAARGGGCTGCCAGTCTCGGCTTCCACTGGAATCCCAATAATGTCCCACACTGGGAACCCTCCAGTGCCTTACCCTGG
CCTCTCGACAGTACCTTCTGACGAAACATTGTTGGGCCCGACTGTGCCTTCCACTGAGGCCCAGGCAGTGCTCCCCTCCATGGCTCAGATGTTGCCCCCG
CAAGATGCCCATGACCTTGGGATGCCCCCAGCTGAGTCCCAGTCATTGCTGGTTTTAGGATCTCAGGACTCTCTTGTCAGTCAGCCAGACTCTCAAGAAG
GCCCATTTCTACCAGAGCAGCCCGGACCTGCTCCACAGACAGTAGAGAAGAACTCCAGGCCTCAGGAAGGGACTGGTAGAAGGGGCTCCTCAGAGGCAAG
GCCTTACTGCTGCAACTACGAGAACTGCGGAAAAGCTTATACCAAACGCTCCCACCTCGTGAGCCACCAGCGCAAGCACACAGGTGAGAGGCCATATTCT
TGCAACTGGGAAAGTTGTTCATGGTCTTTCTTCCGTTCTGATGAGCTTAGACGACATATGCGGGTACACACCAGATATCGACCATATAAATGTGATCAGT
GCAGCCGGGAGTTCATGAGGTCTGACCATCTCAAGCAACACCAGAAGACTCATCGGCCGGGACCCTCAGACCCACAGGCCAACAACAACAATGGAGAGCA
GGACAGTCCTCCTGCTGCTGGTCCTTAGGTGAATGAAGAAGGAAGAGGATTCCAGGCTGAGAGCACTGGACGTGGCAACTGTTCAGAGGAGAGGCAGTCT
TCAAGTTCTACATTCATTCAGAAAAATGTTTTTTGAGCCTACAATACTGAGCGCAACAAGGCTGTGGAGACCCATGGTGAGGAGCATGGAGTTAACTAAA
GGATGTGTCAGGGAAGAAAGACTTCTCAAGGAGGTGCCTCCATCAGACCCAAAGGACTCATGGGGGCTAGCTGCACCTCACATTTCTTGGACATATACCG
TTGGACATGTCTATCTTCTGGAAACTATGGCATGGACAGTAAGGATTCAGAAGTGCATGAAGGCACCCTGCCTCTGCAGAGCAGAAAGATCATAGACAAC
ATTTATGAATGTGCCCAGTGCTGCCAAGAAGAGAAGCCGGTCCTCTGCAGGCTCAAGCCTATCTGGGCCTCTGGGGAAGCCCCACAGCCTTGGCTGTGCC
TGCCCCTGCCCTCTCACCCCTACCCTGACCTTGTCCTACTTCACTGCCTTTGTCTGTGTTACTAGTGGCCCCAGTATACCTGGGATGGACATCCAGGTGC
CCTTCATCCAAGCTCCTATGTGAGGGGAATGGACATTATTAAAAGAACAGGGGCAGAAGTGGCTCATTTATGACCCATTCACTAGCCCCAGGGATTGAAG
TCTTGGGTACTCAAAGTGTCTTTCTACCAGGGCACCAGATCCCTTCCATGGAGCAGGTCATCTCGGGTTCACTGGGCCAGGGATGGTCTCTGTTCCCCAG
CCCACCTGGCTCACACACAGCCTCATGGGTAGGGTCAGCAAACCAGATGGCTTGTTGTTGGAATGTAGGATGAGAGGCCTGCTTGGTGACCTAGCATTTT
CACCAAGAAGTGGACGTGGAGAGGACCAGAGTGATCAAGGGTGTATGATGTGCACTACAATGGTGGGCAAAACAGGCTCCTGCTCTTGTGGAGGTCACAA
TCTAGCGGAGAAAGGATGTTACTAGAAGTACACAAATTGGGCCCGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGAT
CATTTGAGGTTAGAGATTCGAGACCAGCCGGGCCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATATGGCGGGTACCGTAA
TCCTAGCTACTCGGGAGACTGACGGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTCAGATCTCACCATTGCACTCCAGCCTGGGCGACT
GAGCGAGACTCTATCTCAAAACAATCAAAACAAAAAAGACCTGTGGACTCTAGTAGATTTTGAATCCTGCCTCTGCCATTTCCTGGCTATGAGGTGTCTT
GAGAAATTTACTTGTCACTCTTGCTTCTGATAGTAAAGGGGATGGTGCGATAGATTCAAGATGGAGAGATAAGGTTAAGTGTTTTCTTTGGCTGCAACAT
GGAGATTAGATTAGAGCAAGGATGTAAGGGAGAGGAAGGGACATAGCAGTATTTCAGGTGAGAGTCAAGGTGGCTTTGGCTAGGGTGTGAGAGTGGAGGT
AGGGAGAAGTAGGAAAGTGATAGTTAACTGGATTTGTTAGGTGAGGGTGAGGCCAAGGGTGACTTCCAGGTTCCTGACTTGTGTTATAAGTAACACAGAA
GAAGAATGGATGAACTTGATTCGTTTTCCATTGATTGTGATATCTATCATACCTGCAAAAAATATTTTGTATATATCCAATTTAATAATAAATGCACTCA
TGTTAGGAAGGTCAAAAAAAAGGAAAAAAGAAAAATAATAAAAAATAATAAAAATCCTTAGGATAACTTGAGGCCAGGAGTTTGAGACCAGTGTGACCTT
GTCTCTGT

Protein Sequence    (SEQ ID NO:1053):
MYGRPQAEMEQEAGELSRWQAAHQAAQDNENSAPILNMSSSSGSSGVHTSWNQGLPTIQHFPHSAEMLGSPLVSVEAPGQNVNEGGPQFSMPLPERGMSY
CPQATLTPSRMIYCQRMSPPQQEMTIFSGPQLMPVGEPNIPRVARPFGGNLRMPPNGLPVSASTGIPIMSHTGNPPVPYPGLSTVPSDETLLGPTVPSTE
AQAVLPSMAQMLPPQDAHDLGMPPAESQSLLVLGSQDSLVSQPDSQEGPFLPEQPGPAPQTVEKNSRPQEGTGRRGSSEARPYCCNYENCGKAYTKRSHL
VSHQRKHTGERPYSCNWESCSWSFFRSDELRRHMRVHTRYRPYKCDQCSREFMRSDHLKQHQKTHRPGPSDPQANNNNGEQDSPPAAGP


SNP Information

Context             (SEQ ID NO:6192):
TGGCAGGCGGCGCACCAGGCTGCCCAGGATAACGAGAACTCAGCGCCCATCTTGAACATGTCTTCATCTTCTGGAAGCTCTGGAGTGCACACCTCTTGGA
S
CCAAGGCCTACCAACCATTCAGCACTTTCCTCACAGCGCAGAGATGCTGGGGTCCCCTTTGGTGTCTGTTGAGGCGCCGGGGCAGAATGTGAATGAAGGG
Celera SNP ID:            hCV26174370
SNP Position Transcript:  213
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,4)      total(G,4|C,4) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1053, 57, (T,ACC)   (S,AGC)      



Context             (SEQ ID NO:6193):
AGATGACGATTTTCAGTGGGCCCCAACTAATGCCCGTAGGAGAGCCCAATATTCCAAGGGTAGCCAGGCCCTTCGGTGGGAATCTAAGGATGCCCCCCAA
R
GGGCTGCCAGTCTCGGCTTCCACTGGAATCCCAATAATGTCCCACACTGGGAACCCTCCAGTGCCTTACCCTGGCCTCTCGACAGTACCTTCTGACGAAA
Celera SNP ID:            hCV26174371
SNP Position Transcript:  526
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1053, 161, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:6194):
TCTCCCCCTCAGCAAGAGATGACGATTTTCAGTGGGCCCCAACTAATGCCCGTAGGAGAGCCCAATATTCCAAGGGTAGCCAGGCCCTTCGGTGGGAATC
R
AAGGATGCCCCCCAATGGGCTGCCAGTCTCGGCTTCCACTGGAATCCCAATAATGTCCCACACTGGGAACCCTCCAGTGCCTTACCCTGGCCTCTCGACA
Celera SNP ID:            hCV1254052
SNP Position Transcript:  510
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1053, 156, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:6195):
CTGGAAGCTCTGGAGTGCACACCTCTTGGAACCAAGGCCTACCAACCATTCAGCACTTTCCTCACAGCGCAGAGATGCTGGGGTCCCCTTTGGTGTCTGT
K
GAGGCGCCGGGGCAGAATGTGAATGAAGGGGGGCCACAGTTCAGTATGCCACTGCCTGAGCGTGGTATGAGCTACTGCCCCCAAGCGACTCTCACTCCTT
Celera SNP ID:            hCV29018817
SNP Position Transcript:  283
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1053, 80, (Q,CAG)   (H,CAT)      



Context             (SEQ ID NO:6196):
CACCCAGTCTTCATGTACGGCCGACCGCAGGCTGAGATGGAACAGGAGGCTGGGGAGCTGAGCCGGTGGCAGGCGGCGCACCAGGCTGCCCAGGATAACG
W
GAACTCAGCGCCCATCTTGAACATGTCTTCATCTTCTGGAAGCTCTGGAGTGCACACCTCTTGGAACCAAGGCCTACCAACCATTCAGCACTTTCCTCAC
Celera SNP ID:            hCV1254053
SNP Position Transcript:  147
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|T,7)   total(A,2|T,7) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1053, 35, (N,AAC)   (I,ATC)      



Gene Number:                 127
Celera Gene:                 hCG2031930 - 30000023462312
Celera Transcript:           hCT2333844 - 30000023462313
Public Transcript Accession: NM_152498
Celera Protein:              hCP1810317 - 30000023462306
Public Protein Accession:    NP_689711
Gene Symbol:                 FLJ32000
Protein Name:                hypothetical protein FLJ32000
Celera Genomic Axis:         GA_x5YUV32W802(39926275..39964800)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:357):
GGAACCGCTACKGCGTTTGAAAGTGTCCGGGTWGCTTAGGATCCCTACAGGTAGCGCCTCTGGATACATGCGTGGTCTGCTGACCCAGAGAGAAACGAAA
GCAGAACTGTTTGGCGGGAGATCATGTCAGCCGTGGTAGCTCAGACGCTGCATGTTTTTGGTCTTCGATCCCACGTGGCCAACAATATCTTCTACTTCGA
TGAACAGATCATTATATTTCCTTCAGGAAATCACTGTGTGAAGTACAATGTGGATCAGAAATGGCAAAAATTCATTCCAGGCTCAGAGAAGAGTCAGGGC
ATGTTGGCCTTGTCCATCAGTCCCAATCGGCGGTACCTCGCTATCTCTGAGACTGTGCAAGAAAAACCTGCCATCACCATTTATGAATTGTCATCCATCC
CTTGCCGGAAGCGCAAAGTTCTTAATAATTTTGACTTCCAAGTTCAGAAATTTATTAGCATGGCTTTTTCTCCAGACTCCAAATACCTATTGGCTCAGAC
GTCACCTCCAGAGTCAAATCTTGTCTACTGGCTGTGGGAAAAACAGKAAGTAATGGCCATTGTTAGAATCGACACTCAGAACAACCCTGTCTACCAGGTG
AGCTTYAGTCCACAGGATAACACTCAGGTGTGTGTCACTGGAAATGGGATGTTTAAGCTTCTCCGTTTTGCTGAGGGAACCCTGAAGCAAACCAGCTTTC
AGAGGGGAGAACCCCAAAACRATCTAGCTCACACCTGGGTGGCTGATGACAAGATTGTCGTTGGCACTGACACAGGCAAACTCTTCCTCTTTGAATCTGG
AGATCAGCGTTGGGAGACCAGCATAATGGTCAAGGAACCTACCGATGGCTCAAAGAGCCTGGATGTCATTCAGGAATCAGAGAGCCTGATTGAATTTCCA
CCAGTCAGTTCTCCACTCCCTTCCTATGAACAGATGGTGGCGGCCAGTAGCCATAGCCAGATGTCCATGCCCCAGGTGTTTGCCATTGCAGCCTATTCAA
AGGGATTTGCCTGTTCTGCTGGGCCAGGGAGAGSTCTGCTGTTTGAGAAGATGGAAGAAAAGGATTTTTACCGTGAGAGCAGAGAAATCAGGATTCCTGT
GGACCCGCAGAGCAATGATCCAAGTCAGTCTGACAAACAGGACGTTCTCTGCCTGTGCTTCAGCCCCTCAGAGGAAACTCTGGTTGCCAGCACCAGTAAG
AACCAACTCTACAGCATCACCATGTCCCTGACAGAGATCAGCAAGGGGGAGCCTGCTCACTTTGAGTATTTGATGTATCCATTGCACTCAGCACCCATCA
CCGGTCTAGCTACCTGCATCCGCAAACCYCTTATAGCCACCTGTTCTCTGGATCGATCCATCCGCCTTTGGAATTATGAAACAAACACCCTGGAACTATT
TAAGGAATACCAAGAAGAGGCATATTCCATCAGCCTTCATCCATCTGGACACTTCATTGTAGTAGGGTTTGCTGACAAACTACGCCTCATGAATCTACTC
ATTGATGATATACGTTCTTTCAAAGAATACTCTGTTAGAGGATGCGGAGAGTGTTCCTTTAGCAATGGAGGTCACCTGTTTGCTGCAGTCAATGGAAATG
TGATTCACGTTTACACCACCACGAGCCTAGAGAACATCTCAAGCCTGAAAGGACACACAGGGAAGATTCGCTCAATTGTGTGGAATGCAGATGATAGCAA
ACTGATTTCTGGTGGCACAGATGGTGCTGTGTATGAATGGAATCTGTCCACAGGAAAGAGAGAGACAGAATGCGTGCTCAAGTCTTGCAGCTACAACTGT
GTTACTGTRTCCCCCGATGCCAAAATTATCTTTGCTGTTGGATCAGACCACACCCTCAAGGAGATTGCAGATTCCTTGATCCTTCGAGAGATATCGGCGT
TTGATGTCACCTACACCGCCATTGTCATCTCACATTCTGGACGCATGATGTTTGTGGGCACCTCGGTGGGAACCATTCGTGCCATGAAGTACCCTCTGCC
TCTGCAGAAGGAATTCAATGAGTACCAGGCCCATGCCGGTCCTATCACCAAGGTGAGCAGGGCCCTCTCCCCAGGAACCCAGTCCCACACCTGCCTGCTA
CGTGCCTTGTTCATCCCTTCAACCTCCCAATGTCTTTTCTCTCTCCTTCTTCTCTCTTATTTATTCATCCATCATTCATTGAATCACCATCTATTGACTA
TGAATATACTCTTTGTTTAAACTACTTCCAGGAATTTAGCCTAGGAAATCATCAGAGATACACCTAAAAATGTATGTACAACGTTTTCACCATAATATTA
TGCATAATAAGGGGCCGTTTGGTGGATGCCGTAGCTGCCGTGAGTGTGGGCTGCACTTGACCACAGCTGCCTCCTCCTCCAGAGAATGCCCCAGACTGAA
AGGAGCCATAGCCCTGAAGATTGGCCCCTACCTCTCCCTGAGGGTACAAAAGGCCACCCCAGGGGCAATACCATGAGTACACATTTGTAAATTGTCCTTC
CATTCACCCTTCTCATAAAGTAGTATCTATGTTCAACAGTCAAAATGTGGAAGCAACCAAGCATCCATCGACAGACGAATGCATAAGCAAAAGATGGTAT
ATCTATACAATGGAACAATACCCTGCCTAAAAAGGAAGGGAATTCTGCAATGTGCTACCACATGGATGAACCTTGAGGATGTTATGCTAAATTAAATAAG
GCCAACCACAAAAAGATAAGTACAGTGTGATTCCACTTTTAGGAGATACTTAGAGCAGTCAGAATCACAAAGACAGAGTGGTGGTTGGCAGGGGCTGCAG
GAAGGGGGAATGAGGAATGATTGTTTCATAGGTATAGAGTTTTGGTTTTACAAGACAAAAGGATTATGGGGGTAGTTGGTGGCAATGGCTGCACAACATT
ACAAATGTATTTAATAACATGAACTGTACACTTGAAAATGGTTAAGATAGCAAATTTTACAGAATATGTATTTTACGACAATTTTAAAAATGAAATAAAA
AAGAATTATCTTGC

Protein Sequence    (SEQ ID NO:1054):
MSAVVAQTLHVFGLRSHVANNIFYFDEQIIIFPSGNHCVKYNVDQKWQKFIPGSEKSQGMLALSISPNRRYLAISETVQEKPAITIYELSSIPCRKRKVL
NNFDFQVQKFISMAFSPDSKYLLAQTSPPESNLVYWLWEKQKVMAIVRIDTQNNPVYQVSFSPQDNTQVCVTGNGMFKLLRFAEGTLKQTSFQRGEPQNY
LAHTWVADDKIVVGTDTGKLFLFESGDQRWETSIMVKEPTDGSKSLDVIQESESLIEFPPVSSPLPSYEQMVAASSHSQMSMPQVFAIAAYSKGFACSAG
PGRVLLFEKMEEKDFYRESREIRIPVDPQSNDPSQSDKQDVLCLCFSPSEETLVASTSKNQLYSITMSLTEISKGEPAHFEYLMYPLHSAPITGLATCIR
KPLIATCSLDRSIRLWNYETNTLELFKEYQEEAYSISLHPSGHFIVVGFADKLRLMNLLIDDIRSFKEYSVRGCGECSFSNGGHLFAAVNGNVIHVYTTT
SLENISSLKGHTGKIRSIVWNADDSKLISGGTDGAVYEWNLSTGKRETECVLKSCSYNCVTVSPDAKIIFAVGSDHTLKEIADSLILREISAFDVTYTAI
VISHSGRMMFVGTSVGTIRAMKYPLPLQKEFNEYQAHAGPITKVSRALSPGTQSHTCLLRALFIPSTSQCLFSLLLLSYLFIHHSLNHHLLTMNILFV


SNP Information

Context             (SEQ ID NO:6197):
CTCCAGAGTCAAATCTTGTCTACTGGCTGTGGGAAAAACAGAAAGTAATGGCCATTGTTAGAATCGACACTCAGAACAACCCTGTCTACCAGGTGAGCTT
Y
AGTCCACAGGATAACACTCAGGTGTGTGTCACTGGAAATGGGATGTTTAAGCTTCTCCGTTTTGCTGAGGGAACCCTGAAGCAAACCAGCTTTCAGAGGG
Celera SNP ID:            hCV952532
SNP Position Transcript:  606
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1054, 202, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:6198):
TGACAGAGATCAGCAAGGGGGAGCCTGCTCACTTTGAGTATTTGATGTATCCATTGCACTCAGCACCCATCACCGGTCTAGCTACCTGCATCCGCAAACC
Y
CTTATAGCCACCTGTTCTCTGGATCGATCCATCCGCCTTTGGAATTATGAAACAAACACCCTGGAACTATTTAAGGAATACCAAGAAGAGGCATATTCCA
Celera SNP ID:            hCV952541
SNP Position Transcript:  1329
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1054, 443, (H,CAC)   (H,CAT)      443, (H,CAT)   (H,CAC)      



Context             (SEQ ID NO:6199):
CACTCAGGTGTGTGTCACTGGAAATGGGATGTTTAAGCTTCTCCGTTTTGCTGAGGGAACCCTGAAGCAAACCAGCTTTCAGAGGGGAGAACCCCAAAAC
R
ATCTAGCTCACACCTGGGTGGCTGATGACAAGATTGTCGTTGGCACTGACACAGGCAAACTCTTCCTCTTTGAATCTGGAGATCAGCGTTGGGAGACCAG
Celera SNP ID:            hCV952533
SNP Position Transcript:  721
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1054, 241, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6200):
GGAACCGCTAC
K
GCGTTTGAAAGTGTCCGGGTTGCTTAGGATCCCTACAGGTAGCGCCTCTGGATACATGCGTGGTCTGCTGACCCAGAGAGAAACGAAAGCAGAACTGTTT
Celera SNP ID:            hCV27851990
SNP Position Transcript:  12
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,5)   caucasian(G,39|T,1)   total(G,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1054, 4, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:6201):
GGAACCGCTACGGCGTTTGAAAGTGTCCGGGT
W
GCTTAGGATCCCTACAGGTAGCGCCTCTGGATACATGCGTGGTCTGCTGACCCAGAGAGAAACGAAAGCAGAACTGTTTGGCGGGAGATCATGTCAGCCG
Celera SNP ID:            hCV8375296
SNP Position Transcript:  33
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,34)   caucasian(A,12|T,28)   total(A,16|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1054, 11, (V,GTA)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1054, 11, (V,GTA)   (V,GTT)      



Context             (SEQ ID NO:6202):
CTGGTGGCACAGATGGTGCTGTGTATGAATGGAATCTGTCCACAGGAAAGAGAGAGACAGAATGCGTGCTCAAGTCTTGCAGCTACAACTGTGTTACTGT
R
TCCCCCGATGCCAAAATTATCTTTGCTGTTGGATCAGACCACACCCTCAAGGAGATTGCAGATTCCTTGATCCTTCGAGAGATATCGGCGTTTGATGTCA
Celera SNP ID:            hCV16015900
SNP Position Transcript:  1809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1054, 603, (S,TCA)   (S,TCG)      603, (S,TCG)   (S,TCA)      



Context             (SEQ ID NO:6203):
ATGGTGGCGGCCAGTAGCCATAGCCAGATGTCCATGCCCCAGGTGTTTGCCATTGCAGCCTATTCAAAGGGATTTGCCTGTTCTGCTGGGCCAGGGAGAG
S
TCTGCTGTTTGAGAAGATGGAAGAAAAGGATTTTTACCGTGAGAGCAGAGAAATCAGGATTCCTGTGGACCCGCAGAGCAATGATCCAAGTCAGTCTGAC
Celera SNP ID:            hCV1239058
SNP Position Transcript:  1034
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,5)   total(G,5|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1054, 345, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:6204):
GAAATTTATTAGCATGGCTTTTTCTCCAGACTCCAAATACCTATTGGCTCAGACGTCACCTCCAGAGTCAAATCTTGTCTACTGGCTGTGGGAAAAACAG
K
AAGTAATGGCCATTGTTAGAATCGACACTCAGAACAACCCTGTCTACCAGGTGAGCTTCAGTCCACAGGATAACACTCAGGTGTGTGTCACTGGAAATGG
Celera SNP ID:            hCV29130212
SNP Position Transcript:  547
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1054, 183, (A,GCT)   (S,TCT)      



Gene Number:                 128
Celera Gene:                 hCG2032281 - 83000099531071
Celera Transcript:           hCT2334455 - 83000099531072
Public Transcript Accession: NM_015112
Celera Protein:              hCP1810175 - 197000064952816
Public Protein Accession:    NP_055927
Gene Symbol:                 MAST205
Protein Name:                microtubule associated testis specific serine/threonine protein kinase;KIAA0807;MTSSK
Celera Genomic Axis:         GA_x5YUV32W802(37095747..37328006)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:358):
TAGGCAGGCGGCTGAGCCGGCGGCGGGTGGCCTGCCCAACGTGTGCTGGGTGGGAGAAGGCGAGGCGGCAGCGATGCTGTCTCTTCCGTGAGGAGCGCAG
AGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCGTCCGGCCATGGTGGCCGCGGGTGGTG
GTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTGCAGATATGAAGCGGAGCCGCTG
CCGCGACCGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGGATGTAGTAACTGGAGTTAGTCCCCTGCTCTTCAGGAAAC
TCAGTAATCCTGACATATTTTCATCCACTGGAAAAGTTAAACTTCAGCGACAACTGAGTCAGGATGATTGTAAGTTATGGAGAGGAAACCTGGCCAGCTC
TCTATCGGGTAAGCAGCTGCTCCCTTTGTCCAGCAGTGTACATAGCAGTGTGGGACAGGTGACTTGGCAGTCGTCAGGAGAAGCATCAAACCTGGTTCGA
ATGAGAAACCAGTCCCTTGGACAGTCTGCACCTTCTCTTACTGCTGGCCTGAAGGAGTTGAGCCTTCCAAGAAGAGGCAGCTTTTGTCGGACAAGTAACC
GCAAGAGCTTGATTGTGACCTCTAGCACATCACCTACACTACCACGGCCACACTCACCACTCCATGGCCACACAGGTAACAGTCCTTTGGACAGCCCCCG
GAATTTCTCTCCAAATGCACCTGCTCACTTTTCTTTTGTTCCTGCCCGTAGGACTGATGGGCGGCGCTGGTCTTTGGCCTCTTTGCCCTCTTCAGGATAT
GGAACTAACACTCCTAGCTCCACTGTCTCATCATCATGCTCCTCACAGGAAAAGCTGCATCAGTTGCCTTTCCAGCCTACAGCTGATGAGCTGCACTTTT
TGACGAAGCATTTCAGCACAGAGAGCGTACCAGATGAGGAAGGACGGCAGTCCCCAGCCATGCGGCCTCGCTCCCGGAGCCTCAGTCCCGGACGATCCCC
AGTATCCTTTGACAGTGAAATAATAATGATGAATCATGTTTACAAAGAAAGATTCCCAAAGGCCACCGCACAAATGGAAGAGCGACTAGCAGAGTTTATT
TCCTCCAACACTCCAGACAGCGTGCTGCCCTTGGCAGATGGAGCCCTGAGCTTTATTCATCATCAGGTGATTGAGATGGCCCGAGACTGCCTGGATAAAT
CTCGGAGTGGCCTCATTACATCACAATACTTCTACGAACTTCAAGAGAATTTGGAGAAACTTTTACAAGATGCTCATGAGCGCTCAGAGAGCTCAGAAGT
GGCTTTTGTGATGCAGCTGGTGAAAAAGCTGATGATTATCATTGCCCGCCCAGCACGTCTCCTGGAATGCCTGGAGTTTGACCCTGAAGAGTTCTACCAC
CTTTTAGAAGCAGCTGAGGGCCACGCCAAAGAGGGACAAGGGATTAAATGTGACATTCCCCGCTACATCGTTAGCCAGCTGGGCCTCACCCGGGATCCCC
TAGAAGAAATGGCCCAGTTGAGCAGCTGTGACAGTCCTGACACTCCAGAGACAGATGATTCTATTGAGGGCCATGGGGCATCTCTGCCATCTAAAAAGAC
ACCCTCTGAAGAGGACTTCGAGACCATTAAGCTCATCAGCAATGGCGCCTATGGGGCTGTATTTCTGGTGCGGCACAAGTCCACCCGGCAGCGCTTTGCC
ATGAAGAAGATCAACAAGCAGAACCTGATCCTACGGAACCAGATCCAGCAGGCCTTCGTGGAGCGTGACATACTGACTTTCGCTGAGAACCCCTTTGTGG
TCAGCATGTTCTGCTCCTTTGATACCAAGCGCCACTTGTGCATGGTGATGGAGTACGTTGAAGGGGGAGACTGTGCCACTCTGCTGAAGAATATTGGGGC
CCTGCCTGTGGACATGGTGCGTCTATACTTTGCGGAAACTGTGCTGGCCCTGGAGTACTTACACAACTATGGCATCGTGCACCGTGACCTCAAGCCTGAC
AACCTCCTAATTACATCCATGGGGCACATCAAGCTCACGGACTTTGGACTGTCCAAAATKGGCCTCATGAGTCTGACAACGAACTTGTATGAGGGTCATA
TTGAAAAGGATGCCCGGGAATTCCTGGACAAGCAGGTATGCGGGACCCCAGAATACATTGCGCCTGAGGTGATCCTGCGCCAGGGCTATGGGAAGCCAGT
GGACTGGTGGGCCATGGGCATTATCCTGTATGAGTTCCTGGTGGGCTGCGTCCCTTTTTTTGGAGATACTCCGGAGGAGCTCTTTGGGCAGGTGATCAGT
GATGAGATTGTGTGGCCTGAGGGTGATGAGGCACTGCCCCCAGACGCCCAGGACCTCACCTCCAAACTGCTCCACCAGAACCCTCTGGAGAGACTTGGCA
CAGGCAGTGCCTATGAGGTGAAGCAGCACCCATTCTTTACTGGTCTGGACTGGACAGGACTTCTCCGCCAGAAGGCTGAATTTATTCCTCAGTTGGAGTC
AGAGGATGATACTAGCTATTTTGACACCCGCTCAGAGCGATACCACCACATGGACTCGGAGGATGAGGAAGAAGTGAGTGAGGATGGCTGCCTTGAGATC
CGCCAGTTCTCTTCCTGCTCTCCAAGGTTCAACAAGGTGTACAGCAGCATGGAGCGGCTCTCACTGCTCGAGGAGCGCCGGACACCACCCCCGACCAAGC
GCAGCCTGAGTGAGGAGAAGGAGGACCATTCAGATGGCCTGGCAGGGCTCAAAGGCCGAGACCGGAGCTGGGTGATTGGCTCCCCTGAGATATTACGGAA
GCGGCTGTCGGTGTCTGAGTCRTCCCAYACAGAGAGTGACTCAAGCCCTCCAATGACAGTGCGACGCCGCTGCTCAGGCCTCCTGGATGCGCCTCGGTTC
CCGGAGGGCCCTGAGGAGGCCAGCAGCACCCTCAGGAGGCAACCACAGGAGGGTATATGGGTCCTGACACCCCCATCTGGAGAGGGGGTATCTGGGCCTG
TCACTGAACACTCAGGGGAGCAGCGGCCAAAGCTGGATGAGGAAGCTGTTGGCCGGAGCAGTGGTTCCAGTCCAGCTATGGAGACCCGAGGCCGTGGGAC
CTCACAGCTGGCTGAGGGAGCCACAGCCAAGGCCATCAGTGACCTGGCTGTGCGTAGGGCCCGCCACCGGCTGCTCTCTGGGGACTCAACAGAGAAGCGC
ACTGCTCGCCCTGTCAACAAAGTGATCAAGTCCGCCTCAGCCACAGCCCTCTCACTCCTCATTCCTTCGGAACACCACACCTGCTCCCCGTTGGCCAGCC
CCATGTCCCCACATTCTCAGTCGTCCAACCCATCATCCCGGGACTCTTCTCCAAGCAGGGACTTCTTGCCAGCCCTTGGCAGCATGAGGCCTCCCATCAT
CATCCACCGAGCTGGCAAGAAGTATGGCTTCACCCTGCGGGCCATTCGCGTCTACATGGGTGACTCCGATGTCTACACCGTGCACCATATGGTGTGGCAC
GTGGAGGATGGAGGTCCGGCCAGTGAGGCAGGGCTTCGTCAAGGTGACCTCATCACCCATGTCAATGGGGAACCTGTGCATGGCCTGGTGCACACGGAGG
TGGTRGAGCTGATCCTGAAGAGTGGAAACAAGGTGGCCATTTCAACAACTCCCCTGGAGAACACATCCATTARAGTGGGGCCAGCTCGGAAGGGCAGCTA
CAAGGCCAAGATGGCCCGAAGGAGCAAGAGGAGCCGCGGCAAGGATGGGCAAGAAAGCAGAAAAAGGAGCTCCCTGTTCCGCAAGATCACCAAGCAAGCA
TCCCTGCTCCACACCAGCCGCAGCCTTTCTTCCCTTAACCGCTCCTTGTCATCAGGGGAGAGTGGGCCAGGCTCTCCCACACACAGCCACAGCCTTTCCC
CCCGATCTCCCACTCAAGGCTACCGGGTGACCCCCGATGCTGTGCATTCAGTGGGAGGGAATTCATCACAGAGCAGCTCCCCCAGCTCCAGCRTGCCCAG
TTCCCCAGCCGGCTCTGGGCACACACGGCCCAGCTCCCTCCACGGKCTGGCACCCAAGCTCCAACGCCAGTACCGCTCTCCACGGCGCAAGTCAGCAGGC
AGCATCCCACTGTCACCACTGGCCCACACCCCTTCTCCCCCACCCCCAACAGCTTCACCTCAGCGGTCCCCATCGCCCCTGTCTGGCCATGTAGCCCAGG
CCTTTCCCACAAAGCTTCACTTGTCACCTCCCCTGGGCAGGCAACTCTCACGGCCCAAGAGTGCGGAGCCACCCCGTTCACCACTACTCAAGAGGGTGCA
GTCGGCTGAGAAACTGGCAGCAGCACTTGCCGCCTCTGAGAAGAAGCTAGCCACYTCTCGCAAGCACAGCCTTGACCTGCCCCACTCTGAACTAAAGAAG
GAACTGCCGCCCAGGGAAGTGAGCCCTCTGGAGGTAGTTGGAGCCAGGAGTGTGCTGTCTGGCAAGGGGRCCCTGCCAGGGAAGGSGGTGCTGCAGCCTG
CTCCCTCACGGGCCCTAGGCACCCTCCGGCAGGACCGAGCCGAACGACGGGAGTCGCTGCAGAAGCAAGAAGCCATTCGTGAGGTGGACTCCTCAGAGGA
CGACACCGAGGAAGGGCCTGAGAACAGCCAGGGTGCACAGGAGCTGAGCTTGGCACCTCACCCAGAAGTGAGCCAGAGTGTGGCCCCTAAAGGAGCAGGA
GAGAGTGGGGAAGAGGATCCTTTCCCGTCCAGAGRCCCTAGGAGCCTGGGCCCAATGGTCCCAAGCCTATTGACAGGGATCACACTGGGGCCTCCCAGAA
TGGAAAGTCCCAGTGGTCCCCACAGGAGGCTCGGGAGCCCACAAGCCATTGAGGAGGCTGCCAGCTCCTCCTCAGCAGGCCCCAACCTAGGTCAGTCTGG
AGCCAYAGACCCCATCCCTCCTGAAGGTTGCTGGAAGGCCCAGCACCTCCACACCCAGGCACTAACAGCACTTTCTCCCAGCACTTCGGGACTCACCCCC
ACCAGCAGTTGYTCTCCTCCCAGCTCCACCTCTGGGAAGCTGAGCATGTGGTCCTGGAAATCCCTTATTGAGGGCCCAGACAGGGCATCCCCAAGCAGAA
AGGCAACCATGGCAGGTGGGCTAGCCAACCTCCAGGATTTGGAAAACACAACTCCAGCCCAGCCTAAGAACCTGTCTCCCAGGGAGCAGGGGAAGACACA
GCCACCTAGTGCCCCCAGACTGGCCCATCCATCTTATGAGGATCCCAGCCAGGGCTGGCTATGGGAGTCTGAGTGTGCACAAGCAGTGAAAGAGGATCCA
GCCCTGAGCATCACCCAAGTGCCTGATGCCTCAGGTGACAGAAGGCAGGACGTTCCATGCCGAGGCTGCCCCCTCACCCAGAAGTYTGAGCCCAGCCTCA
GGAGGGGCCAAGAACCAGGGGGCCATCAAAAGCATCGGGATTTGGCATTGGTTCCAGATGAGCTTTTAAAGCAAACATAGCAGTTGTTTGCCATTTCTTG
CACTCAGACCTGTGTAATATATGCTCCTGGAAACCATCTTTATGTCTTTTGCTTGCTTGTTTTCCTTCGGTCAACCCACATGTAACTAGGTCCTGTGTTG
CTGCTGGGAATATAGTGGTGAATAAAACAGTTTCCAC

Protein Sequence    (SEQ ID NO:1055):
MKRSRCRDRPQPPPPDRREDGVQRAAELSQSLPPRRRAPPGRQRLEERTGPAGPEGKEQDVVTGVSPLLFRKLSNPDIFSSTGKVKLQRQLSQDDCKLWR
GNLASSLSGKQLLPLSSSVHSSVGQVTWQSSGEASNLVRMRNQSLGQSAPSLTAGLKELSLPRRGSFCRTSNRKSLIVTSSTSPTLPRPHSPLHGHTGNS
PLDSPRNFSPNAPAHFSFVPARRTDGRRWSLASLPSSGYGTNTPSSTVSSSCSSQEKLHQLPFQPTADELHFLTKHFSTESVPDEEGRQSPAMRPRSRSL
SPGRSPVSFDSEIIMMNHVYKERFPKATAQMEERLAEFISSNTPDSVLPLADGALSFIHHQVIEMARDCLDKSRSGLITSQYFYELQENLEKLLQDAHER
SESSEVAFVMQLVKKLMIIIARPARLLECLEFDPEEFYHLLEAAEGHAKEGQGIKCDIPRYIVSQLGLTRDPLEEMAQLSSCDSPDTPETDDSIEGHGAS
LPSKKTPSEEDFETIKLISNGAYGAVFLVRHKSTRQRFAMKKINKQNLILRNQIQQAFVERDILTFAENPFVVSMFCSFDTKRHLCMVMEYVEGGDCATL
LKNIGALPVDMVRLYFAETVLALEYLHNYGIVHRDLKPDNLLITSMGHIKLTDFGLSKIGLMSLTTNLYEGHIEKDAREFLDKQVCGTPEYIAPEVILRQ
GYGKPVDWWAMGIILYEFLVGCVPFFGDTPEELFGQVISDEIVWPEGDEALPPDAQDLTSKLLHQNPLERLGTGSAYEVKQHPFFTGLDWTGLLRQKAEF
IPQLESEDDTSYFDTRSERYHHMDSEDEEEVSEDGCLEIRQFSSCSPRFNKVYSSMERLSLLEERRTPPPTKRSLSEEKEDHSDGLAGLKGRDRSWVIGS
PEILRKRLSVSESSHTESDSSPPMTVRRRCSGLLDAPRFPEGPEEASSTLRRQPQEGIWVLTPPSGEGVSGPVTEHSGEQRPKLDEEAVGRSSGSSPAME
TRGRGTSQLAEGATAKAISDLAVRRARHRLLSGDSTEKRTARPVNKVIKSASATALSLLIPSEHHTCSPLASPMSPHSQSSNPSSRDSSPSRDFLPALGS
MRPPIIIHRAGKKYGFTLRAIRVYMGDSDVYTVHHMVWHVEDGGPASEAGLRQGDLITHVNGEPVHGLVHTEVVELILKSGNKVAISTTPLENTSIKVGP
ARKGSYKAKMARRSKRSRGKDGQESRKRSSLFRKITKQASLLHTSRSLSSLNRSLSSGESGPGSPTHSHSLSPRSPTQGYRVTPDAVHSVGGNSSQSSSP
SSSVPSSPAGSGHTRPSSLHGLAPKLQRQYRSPRRKSAGSIPLSPLAHTPSPPPPTASPQRSPSPLSGHVAQAFPTKLHLSPPLGRQLSRPKSAEPPRSP
LLKRVQSAEKLAAALAASEKKLATSRKHSLDLPHSELKKELPPREVSPLEVVGARSVLSGKGALPGKGVLQPAPSRALGTLRQDRAERRESLQKQEAIRE
VDSSEDDTEEGPENSQGAQELSLAPHPEVSQSVAPKGAGESGEEDPFPSRDPRSLGPMVPSLLTGITLGPPRMESPSGPHRRLGSPQAIEEAASSSSAGP
NLGQSGATDPIPPEGCWKAQHLHTQALTALSPSTSGLTPTSSCSPPSSTSGKLSMWSWKSLIEGPDRASPSRKATMAGGLANLQDLENTTPAQPKNLSPR
EQGKTQPPSAPRLAHPSYEDPSQGWLWESECAQAVKEDPALSITQVPDASGDRRQDVPCRGCPLTQKSEPSLRRGQEPGGHQKHRDLALVPDELLKQT


SNP Information

Context             (SEQ ID NO:6205):
CCAAGAGTGCGGAGCCACCCCGTTCACCACTACTCAAGAGGGTGCAGTCGGCTGAGAAACTGGCAGCAGCACTTGCCGCCTCTGAGAAGAAGCTAGCCAC
Y
TCTCGCAAGCACAGCCTTGACCTGCCCCACTCTGAACTAAAGAAGGAACTGCCGCCCAGGGAAGTGAGCCCTCTGGAGGTAGTTGGAGCCAGGAGTGTGC
Celera SNP ID:            hCV25932318
SNP Position Transcript:  4555
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,30)   caucasian(C,2|T,34)   total(C,8|T,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1424, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,26)   caucasian(C,4|T,28)   total(C,10|T,54)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1424, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:6206):
GCACAGGAGCTGAGCTTGGCACCTCACCCAGAAGTGAGCCAGAGTGTGGCCCCTAAAGGAGCAGGAGAGAGTGGGGAAGAGGATCCTTTCCCGTCCAGAG
R
CCCTAGGAGCCTGGGCCCAATGGTCCCAAGCCTATTGACAGGGATCACACTGGGGCCTCCCAGAATGGAAAGTCCCAGTGGTCCCCACAGGAGGCTCGGG
Celera SNP ID:            hCV12111039
SNP Position Transcript:  4935
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,34|G,4)   total(A,70|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1551, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,32|G,4)   total(A,63|G,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1551, (D,GAC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1551, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6207):
ATTCAGATGGCCTGGCAGGGCTCAAAGGCCGAGACCGGAGCTGGGTGATTGGCTCCCCTGAGATATTACGGAAGCGGCTGTCGGTGTCTGAGTCATCCCA
Y
ACAGAGAGTGACTCAAGCCCTCCAATGACAGTGCGACGCCGCTGCTCAGGCCTCCTGGATGCGCCTCGGTTCCCGGAGGGCCCTGAGGAGGCCAGCAGCA
Celera SNP ID:            hCV25932120
SNP Position Transcript:  3028
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 915, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:6208):
TACACAACTATGGCATCGTGCACCGTGACCTCAAGCCTGACAACCTCCTAATTACATCCATGGGGCACATCAAGCTCACGGACTTTGGACTGTCCAAAAT
K
GGCCTCATGAGTCTGACAACGAACTTGTATGAGGGTCATATTGAAAAGGATGCCCGGGAATTCCTGGACAAGCAGGTATGCGGGACCCCAGAATACATTG
Celera SNP ID:            hCV8358540
SNP Position Transcript:  2260
SNP Source:               Applera
Population(Allele,Count): african american(G,11|T,27)   caucasian(G,23|T,17)   total(G,34|T,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 659, (M,ATG)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,6)      total(G,1|T,6) ;JBIG-allele(T,521|G,968)   total(T,521|G,968)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 659, (M,ATG)   (I,ATT)      659, (I,ATT)   (M,ATG)      



Context             (SEQ ID NO:6209):
AGTCCCAGTGGTCCCCACAGGAGGCTCGGGAGCCCACAAGCCATTGAGGAGGCTGCCAGCTCCTCCTCAGCAGGCCCCAACCTAGGTCAGTCTGGAGCCA
Y
AGACCCCATCCCTCCTGAAGGTTGCTGGAAGGCCCAGCACCTCCACACCCAGGCACTAACAGCACTTTCTCCCAGCACTTCGGGACTCACCCCCACCAGC
Celera SNP ID:            hCV25959834
SNP Position Transcript:  5106
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,38)   total(C,68|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1608, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:6210):
CCTTTCCCCCCGATCTCCCACTCAAGGCTACCGGGTGACCCCCGATGCTGTGCATTCAGTGGGAGGGAATTCATCACAGAGCAGCTCCCCCAGCTCCAGC
R
TGCCCAGTTCCCCAGCCGGCTCTGGGCACACACGGCCCAGCTCCCTCCACGGTCTGGCACCCAAGCTCCAACGCCAGTACCGCTCTCCACGGCGCAAGTC
Celera SNP ID:            hCV25938510
SNP Position Transcript:  4193
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,7|G,27)   total(A,7|G,63)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1304, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,7|G,33)   total(A,7|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1304, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:6211):
TCTGAACTAAAGAAGGAACTGCCGCCCAGGGAAGTGAGCCCTCTGGAGGTAGTTGGAGCCAGGAGTGTGCTGTCTGGCAAGGGGGCCCTGCCAGGGAAGG
S
GGTGCTGCAGCCTGCTCCCTCACGGGCCCTAGGCACCCTCCGGCAGGACCGAGCCGAACGACGGGAGTCGCTGCAGAAGCAAGAAGCCATTCGTGAGGTG
Celera SNP ID:            hCV25931885
SNP Position Transcript:  4686
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,40)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1468, (A,GCG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1468, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6212):
ATTCAGTGGGAGGGAATTCATCACAGAGCAGCTCCCCCAGCTCCAGCGTGCCCAGTTCCCCAGCCGGCTCTGGGCACACACGGCCCAGCTCCCTCCACGG
K
CTGGCACCCAAGCTCCAACGCCAGTACCGCTCTCCACGGCGCAAGTCAGCAGGCAGCATCCCACTGTCACCACTGGCCCACACCCCTTCTCCCCCACCCC
Celera SNP ID:            hCV25940991
SNP Position Transcript:  4246
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,24)   caucasian(G,1|T,15)   total(G,3|T,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1321, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:6213):
GTGAAAGAGGATCCAGCCCTGAGCATCACCCAAGTGCCTGATGCCTCAGGTGACAGAAGGCAGGACGTTCCATGCCGAGGCTGCCCCCTCACCCAGAAGT
Y
TGAGCCCAGCCTCAGGAGGGGCCAAGAACCAGGGGGCCATCAAAAGCATCGGGATTTGGCATTGGTTCCAGATGAGCTTTTAAAGCAAACATAGCAGTTG
Celera SNP ID:            hCV8358528
SNP Position Transcript:  5586
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1768, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:6214):
CCTGTGCATGGCCTGGTGCACACGGAGGTGGTGGAGCTGATCCTGAAGAGTGGAAACAAGGTGGCCATTTCAACAACTCCCCTGGAGAACACATCCATTA
R
AGTGGGGCCAGCTCGGAAGGGCAGCTACAAGGCCAAGATGGCCCGAAGGAGCAAGAGGAGCCGCGGCAAGGATGGGCAAGAAAGCAGAAAAAGGAGCTCC
Celera SNP ID:            hCV8358529
SNP Position Transcript:  3873
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,32|G,6)   total(A,68|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1197, (K,AAA)   (R,AGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,32|G,4)   total(A,64|G,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1197, (K,AAA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1197, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:6215):
AGGATGGAGGTCCGGCCAGTGAGGCAGGGCTTCGTCAAGGTGACCTCATCACCCATGTCAATGGGGAACCTGTGCATGGCCTGGTGCACACGGAGGTGGT
R
GAGCTGATCCTGAAGAGTGGAAACAAGGTGGCCATTTCAACAACTCCCCTGGAGAACACATCCATTAAAGTGGGGCCAGCTCGGAAGGGCAGCTACAAGG
Celera SNP ID:            hCV8358538
SNP Position Transcript:  3805
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,20)   caucasian(A,6|G,28)   total(A,12|G,48)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1174, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1174, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:6216):
CCTTGACCTGCCCCACTCTGAACTAAAGAAGGAACTGCCGCCCAGGGAAGTGAGCCCTCTGGAGGTAGTTGGAGCCAGGAGTGTGCTGTCTGGCAAGGGG
R
CCCTGCCAGGGAAGGGGGTGCTGCAGCCTGCTCCCTCACGGGCCCTAGGCACCCTCCGGCAGGACCGAGCCGAACGACGGGAGTCGCTGCAGAAGCAAGA
Celera SNP ID:            hCV27471376
SNP Position Transcript:  4670
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1055, 1463, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6217):
CCATCCCTCCTGAAGGTTGCTGGAAGGCCCAGCACCTCCACACCCAGGCACTAACAGCACTTTCTCCCAGCACTTCGGGACTCACCCCCACCAGCAGTTG
Y
TCTCCTCCCAGCTCCACCTCTGGGAAGCTGAGCATGTGGTCCTGGAAATCCCTTATTGAGGGCCCAGACAGGGCATCCCCAAGCAGAAAGGCAACCATGG
Celera SNP ID:            hCV25960516
SNP Position Transcript:  5212
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,38)   total(C,67|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 1643, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:6218):
AGGACCATTCAGATGGCCTGGCAGGGCTCAAAGGCCGAGACCGGAGCTGGGTGATTGGCTCCCCTGAGATATTACGGAAGCGGCTGTCGGTGTCTGAGTC
R
TCCCACACAGAGAGTGACTCAAGCCCTCCAATGACAGTGCGACGCCGCTGCTCAGGCCTCCTGGATGCGCCTCGGTTCCCGGAGGGCCCTGAGGAGGCCA
Celera SNP ID:            hCV8358539
SNP Position Transcript:  3022
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,20)   caucasian(A,10|G,30)   total(A,24|G,50)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 913, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,6)      total(G,2|A,6) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1055, 913, (S,TCA)   (S,TCG)      913, (S,TCG)   (S,TCA)      



Gene Number:                 129
Celera Gene:                 hCG2036650 - 206000045581846
Celera Transcript:           hCT2340724 - 206000045581847
Public Transcript Accession: NM_052896
Celera Protein:              hCP1907308 - 206000045581793
Public Protein Accession:    NP_443128
Gene Symbol:                 CSMD2
Protein Name:                CUB and Sushi multiple domains 2;KIAA1884
Celera Genomic Axis:         GA_x5YUV32W802(48981850..49632948)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:359):
TTCCGAGAGCGCAGCGCGCCTCTCCCCGGCCGGGCGGACACTTGGTTCATTCCAGCCGCAGAAGCTCAGGGCTCCCGCGTACCGGGATTTTTTCCGAGCA
GAAAAAAGCTCCAGAGCTCTCCTGACCTCCTTTCTCCTCGGCGGCGAGCGGAGCCTCTCCCTCGGCGCTGCCGGCCGCGCCATGCCGCGCTCGCGGGGAC
GGGAGCTGGGGCGCTGCGGCTGCCCCGCGGGGAGGGCTCGCGGCGAAACCGGGATTTCGGCGCTTGTGCCGGGCGCCGGGAGCCGCTGGGGCCGCCCGCC
GCCGCCAACGCCGCCGCCTCTGCTGCTGTTGCTGGGCTGTGGGTTGCTCAGCGTCTCGGCCGCCGCGGGCCAGAACTGCACGTTCCAACTGCACGGTCCC
AATGGGACAGTTGAGAGCCCAGGGTTCCCATATGGCTACCCCAATTACGCCAACTGCACGTGGACCATCACCGCGGAAGAGCAGCACAGAATCCAGCTTG
TGTTCCAGTCCTTTGCCCTGGAAGAGGACTTTGATGTCCTGTCGGTGTTTGATGGTCCACCCCAGCCAGAGAATCTGCGTACGAGGCTCACAGGCTTTCA
GCTGCCAGCCACCATTGTTAGTGCAGCCACCACCCTCTCTCTGCGCCTCATCAGCGACTATGCAGTCAGTGCCCAAGGCTTCCACGCCACCTATGAAGTT
CTCCCCAGCCACACATGTGGGAACCCAGGGAGGCTGCCCAATGGCATCCAGCAGGGTTCAACCTTCAACCTCGGTGACAAGGTCCGCTACAGCTGCAACC
TTGGCTTCTTCCTGGAGGGCCACGCCGTGCTCACCTGCCACGCTGGCTCTGAGAACAGCGCCACGTGGGACTTCCCCCTGCCTTCCTGCAGAGCTGATGA
TGCCTGTGGTGGGACCCTGCGGGGCCAGAGTGGCATCATCTCCAGCCCCCACTTCCCCTCGGAGTACCATAACAATGCCGACTGCACATGGACCATCCTG
GCTGAGCTGGGGGACACCATCGCCCTGGTGTTTATTGACTTCCAGCTGGAGGATGGTTACGACTTTCTGGAAGTCACTGGGACAGAAGGCTCCTCCCTCT
GGTTCACCGGAGCCAGCCTCCCAGCCCCCGTTATCAGCAGCAAGAACTGGCTGCGACTGCACTTCACATCGGATGGCAACCACCGGCAGCGCGGATTCAG
TGCCCAATACCAAGTCAAGAAGCAAATTGAGTTGAAGTCTCGAGGTGTGAAGCTGATGCCCAGCAAAGACAACAGCCAGAAGACGTCTGTGTTAACTCAG
GTTGGTGTGTCCCAAGGACATAATATGTGTCCAGACCCTGGCATACCCGAAAGGGGCAAAAGACTAGGCTCGGATTTCAGGTTAGGATCCAGCGTCCAGT
TCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAARCGGATCACCTGTATGAAAGTGAGCGACATGTTTGCGGCYTGGAGCGACCACAGGCCAGTCTG
CCGAGCCCGCATGTGTGATGCCCACCTTCGAGGCCCCTCGGGCATCATCACCTCCCCCAATTTCCCCATTCAGTATGACAACAATGCACACTGTGTGTGG
ATCATCACAGCACTCAACCCCTCCAAGGTGATCAAGCTCGCCTTTGAGGAGTTTGATTTGGAGAGGGGCTATGACACCCTGACGGTCGGTGATGGTGGTC
AGGATGGGGACCAGAAGACAGTTCTCTACATCCTGACAGGTACATCGGTCCCGGATCTCATTGTCAGCACCAATCATCAAATGTGGCTCCTCTTCCAGAC
TGATGGCAGTGGCAGTTCCCTGGGATTCAAGGCTTCTTATGAAGAGATCGAGCAGGGCAGTTGCGGTGACCCTGGCATACCTGCATATGGCCGGAGGGAA
GGCTCCCGGTTTCRCCACGGTGACACACTCAAGTTTGAGTGCCAGCCCGCCTTTGAGCTGGTGGGACAGAAGGCAATCACATGCCAAAAGAATAACCAAT
GGTCGGCTAAGAAGCCAGGCTGCGTGTTCTCCTGCTTCTTCAACTTCACCAGCCCGTCTGGGGTTGTCCTGTCTCCCAACTACCCAGAGGACTATGGCAA
CCACCTCCACTGTGTCTGGCTCATCCTGGCCAGGCCTGAGAGCCGCATCCACCTGGCCTTCAACGACATTGACGTGGAGCCTCAGTTTGATTTCCTGGTC
ATCAAGGATGGGGCCACCGCCGAGGCGCCCGTCCTGGGCACCTTCTCAGGAAACCAGCTTCCCTCCTCCATCACAAGCAGTGGCCACGTGGCCCGTCTCG
AGTTCCAGACTGACCACTCCACAGGGAAGAGGGGCTTCAACATCACTTTTACCACCTTCCGACACAACGAGTGCCCGGATCCTGGCGTTCCAGTAAATGG
CAAACGGTTTGGGGACAGCCTCCAGCTGGGCAGCTCCATCTCCTTCCTCTGTGATGAAGGCTTCCTTGGGACTCAGGGCTCAGAGACCATCACCTGCGTC
CTGAAGGAGGGCAGCGTGGTCTGGAACAGCGCTGTGCTGCGGTGTGAAGCTCCCTGTGGTGGTCACCTGACTTCGCCCAGCGGCACCATCCTCTCTCCGG
GCTGGCCTGGCTTCTACAAGGATGCCTTGAGCTGTGCCTGGGTGATTGAGGCCCAGCCAGGCTACCCCATCAAAATCACCTTCGACAGATTCAAAACCGA
GGTCAACTATGACACCCTGGAAGTACGCGATGGGCGGACTTACTCAGCGCCCTTGATCGGGGTTTACCACGGGACCCAGGTTCCCCAGTTCCTCATCAGC
ACCAGCAACTACCTCTACCTCCTYTTCTCTACCGACAAGAGTCACTCGGACATCGGCTTCCAGCTCCGCTATGASACTATAACACTGCAGTCAGACCACT
GTCTGGATCCAGGAATCCCAGTAAATGGACAGCGTCATGGGAATGACTTCTACGTGGGCGCGCTGGTGACCTTCAGCTGTGACTCGGGCTACACATTAAG
TGACGGGGAGCCTCTGGAGTGTGAGCCCAACTTCCAGTGGAGCCGGGCCCTGCCCAGTTGTGAAGCTCTCTGTGGTGGCTTCATTCAAGGYTCCAGTGGG
ACCATCTTGTCRCCAGGGTTCCCTGACTTCTACCCCAACAACTTGAACTGCACCTGGATTATCGAAACATCTCATGGCAAGGGTGTGTTCTTCACTTTCC
ACACCTTCCACCTGGAAAGTGGCCATGACTACCTCCTCATCACTGAGAACGGCAGCTTCACCCAGCCCCTGAGGCAGCTAACTGGATCTCGGCTGCCAGC
TCCCATCAGCGCTGGGCTCTATGGCAACTTCACTGCCCAGGTCCGCTTCATCTCTGATTTCTCCATGTCATATGAAGGATTCAACATCACCTTCTCAGAG
TACGACTTGGAGCCCTGTGAGGAGCCCGAGGTCCCAGCCTACAGCATCCGGAAGGGCTTGCAGTTTGGCGTGGGCRACACCTTGACCTTCTCCTGCTTCC
CCGGGTACCGTCTGGAGGGCACCGCCCGCATCACGTGCCTGGGGGGCAGACGGCGCCTGTGGAGCTCGCCTCTGCCAAGGTGTGTTGCTGAGTGTGGGAA
TTCAGTCACAGGCACTCAGGGTACTTTGCTGTCCCCCAACTTTCCTGTGAACTACAATAACAATCATGAATGCATCTACTCCATCCAGACCCAGCCAGGG
AAGGGAATYCAGCTGAAAGCCAGGGCATTCGAACTCTCCGAAGGAGATGTCCTCAAGGTTTATGATGGCAACAACAACTCCGCCCGTTTGCTGGGAGTTT
TTAGCCATTCTGAGATGATGGGGGTGACTTTGAACAGCACATCCAGCAGTCTGTGGCTTGATTTCATCACTGATGCTGAAAACACCAGCAAGGGCTTTGA
ACTGCACTTTTCCAGCTTTGAACTCATCAAATGTGAGGACCCAGGAACCCCCAAGTTTGGCTACAAGGTTCATGATGAAGGTCATTTTGCAGGGAGCTCC
GTGTCCTTCAGCTGTGACCCTGGATACAGCCTGCGGGGTAGTGAGGAGCTGCTGTGTCTGAGTGGAGAGCGCCGGACCTGGGACCGGCCTCTGCCCACCT
GTGTCGCCGAGTGTGGAGGGACAGTGAGAGGAGAGGTGTCGGGGCAGGTGCTGTCACCCGGGTATCCAGCTCCCTATGAACACAATCTCAACTGCATCTG
GACCATCGAAGCAGAGGCCGGCTGCACCATTGGGCTACACTTCCTGGTGTTTGACACAGAGGAGGTTCACGACGTGCTGCGCATCTGGGATGGGCCTGTG
GAGAGCGGGGTTCTGCTGAAGGAGCTGAGTGGCCCGGCCCTGCCCAAGGACCTGCATAGCACCTTCAACTCGGTCGTCCTGCAGTTCAGCACTGACTTCT
TCACCAGCAAGCAGGGCTTTGCCATTCAATTTTCAGTGTCCACAGCAACGTCCTGCAATGACCCTGGGATCCCGCAGAATGGGAGTCGGAGTGGTGACAG
TTGGGAAGSCGGCGACTCCACAGTGTTCCAGTGTGACCCTGGCTACGCGCTGCAGGGAAGTGCAGAGATCAGCTGTGTGAAGATCGAGAACAGGTTCTTC
TGGCAGCCCAGCCCGCCAACATGCATCGCTCCCTGCGGGGGAGACCTGACAGGACCATCTGGAGTCATCCTCTCACCAAATTACCCAGAACCCTACCCGC
CAGGCAAGGAGTGTGACTGGAAAGTGACCGTCTCACCAGACTACGTCATCGCCCTGGTATTTAACATCTTTAACCTGGAGCCTGGCTATGACTTCCTCCA
TATCTACGACGGACGGGACTCTCTCAGCCCTCTCATAGGAAGCTTCTATGGCTCCCAGCTCCCAGGCCGCATTGAAAGCAGCAGCAACAGCCTCTTCCTY
GCCTTCCGCAGCGATGCATCTGTGAGCAATGCTGGCTTCGTCATTGACTATACAGAAAACCCGCGGGAGTCATGTTTTGATCCTGGTTCYATCAAGAACG
GCACACGGGTGGGGTCCGACCTGAAGCTGGGCTCCTCCGTCACCTACTACTGCCACGGGGGCTACGAAGTTGAGGGCACCTCGACCCTGAGCTGCATCCT
GGGGCCTGATGGGAAGCCCGTGTGGAACAATCCCCGGCCAGTCTGCACAGKCCCCTGTGGGGGACAGTATGTGGGTTCGGACGGAGTGGTCTTGTCCCCC
AACTACCCCCAGAACTACACCAGTGGACAGATCTGCTTGTATTTTGTTACTGTGCCCAAGGACTATGTGGTGTTTGGCCAGTTCGCCTTCTTTCACACGG
CCCTCAACGACGTGGTGGAGGTTCACGACGGCCACAGCCAGCACTCGCGGCTCCTCAGCTCCCTCTCGGGCTCCCATACAGGAGAATCACTGCCCTTGGC
CACCTCCAATCAAGTTCTCATTAAGTTCAGCGCCAAAGGCCTCGCACCAGCCAGAGGCTTCCACTTTGTCTACCAAGCGGTTCCTCGAACCAGCGCCACG
CAGTGCAGCTCTGTGCCGGAACCCCGCTATGGCAAGAGGCTGGGCAGTGACTTCTCGGTGGGGGCCATCGTCCGCTTCGAWTGCAACTCCGGCTATGCCC
TGCAGGGGTCGCCAGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCARTGGAATGTCTCAGCGCCCACGTGTGTGGTGCCGTGTGGAGGCAACCT
CACAGAGCGCAGGGGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCAACAGCCTCAACTGTGTGTGGAAGATCGTGGTCCCYGAAGGCGCTGGC
ATCCAGATCCAAGTTGTCAGTTTTGTGACAGAGCAGAACTGGGACTCGCTGGAAGTATTTGATGGTGCAGATAACACTGTAACCATGCTGGGGAGTTTCT
CAGGAACAACCGTGCCTGCCCTTCTGAACAGCACCTCCAACCAGCTCTACCTTCATTTCTACTCAGATATCAGCGTATCTGCAGCTGGCTTCCACTTGGA
GTACAAAACGGTGGGCCTGAGCAGTTGTCCGGAACCTGCTGTGCCCAGTAACGGGGTGAAGACTGGCGAGCGCTACTTGGTGAATGATGTGGTGTCTTTC
CAGTGTGAGCCGGGATATGCCCTCCAGGGCCACGCCCACATCTCCTGCATGCCCGGAACAGTGCGGCGATGGAACTACCCTCCTCCACTCTGTATTGCAC
AGTGTGGGGGAACAGTGGAGGAGATGGAGGGGGTGATCCTGAGCCCCGGCTTCCCAGGCAACTACCCCAGTAACATGGACTGCTCCTGGAAAATAGCACT
GCCCGTGGGCTTTGGAGCTCACATCCAGTTCCTGAACTTCTCCACCGAGCCCAACCACGACTACATAGAAATCCGGAATGGCCCCTATGAGACCAGCCGC
ATGATGGGAAGATTCAGTGGAAGCRAGCTTCCAAGCTCCCTCCTCTCCACGTCCCACGAGACCACCGTGTATTTCCACAGCGACCACTCCCAGAATCGGC
CAGGATTCAAGCTGGAGTATCAGGCCTATGAACTTCAAGAGTGCCCAGACCCAGAGCCCTTTGCCAATGGCATTGTGAGGGGAGCTGGCTACAACGTGGG
ACAATCAGTGACCTTCGAGTGCCTCCCGGGGTATCAATTGACTGGCCACCCTGTCCTCACGTGTCAACATGGCACCAACCGGAACTGGGACCACCCCCTG
CCCAAGTGTGAAGTCCCTTGTGGCGGGAACATCACTTCTTCCAACGGCACTGTGTACTCCCCGGGGTTCCCTAGCCCGTACTCCAGCTCCCAGGACTGTG
TCTGGCTGATCACCGTGCCCATTGGCCATGGCGTCCGCCTCAACCTCAGCCTGCTGCAGACAGAGCCCTCTGGAGATTTCATCACCATCTGGGATGGGCC
ACAGCAAACAGCACCACGGCTCGGCGTCTTCACCCGGAGCATGGCCAAGAAAACAGTGCAGAGTTCATCCAACCAGGTCCTGCTCAAGTTCCACCGTGAT
GCAGCCACAGGGGGGATCTTCGCCATAGCTTTCTCCGCTTATCCACTCACCAAATGCCCTCCTCCCACCATCCTCCCCAACGCCGAAGTCGTCACAGAGA
ATGAAGAATTCAATATAGGTGACATCGTACGCTACAGATGCCTCCCTGGCTTTACCTTAGTGGGGAATGAAATTCTGACCTGCAAACTTGGAACCTACCT
GCAGTTTGAAGGACCACCCCCGATATGTGAAGTGCACTGTCCAACAAATGAGCTTCTGACAGACTCCACAGGCGTGATCCTGAGCCAGAGCTACCCTGGA
AGCTATCCCCAGTTCCAGACCTGCTCTTGGCTGGTGAGAGTGGAGCCCGACTATAACATCTCCCTCACAGTGGAGTACTTCCTCAGCGAGAAGCAATATG
ATGAGTTTGAGATTTTTGATGGTCCATCAGGACAGAGTCCTCTGCTGAAAGCCCTCAGTGGGAATTACTCAGCTCCCCTGATTGTCACCAGCTCAAGCAA
CTCTGTGTACCTGCGTTGGTCATCTGATCACGCCTACAATCGGAAGGGCTTCAAGATCCGCTATTCAGCCCCTTACTGCAGCCTGCCCAGGGCTCCACTC
CATGGCTTCATCCTAGGCCAGACCAGCACCCAGCCCGGGGGCTCCATCCACTTTGGCTGCAACGCCGGCTACCGCCTGGTGGGACACAGCATGGCCATCT
GTACCCGGCACCCCCAGGGCTACCACCTGTGGAGCGAAGCCATCCCTCTCTGTCAAGCTCTTTCCTGTGGGCTTCCTGAGGCCCCCAAGAATGGAATGGT
GTTTGGCAAGGAGTACACAGTGGGAACCAAGGCCRTGTACAGCTGCAGTGAAGGCTACCACCTCCAGGCAGGCGCTGAGGCCACTGCAGAGTGTCTGGAC
ACAGGCCTATGGAGCAACCGCAATGTCCCACCACAGTGTGTCCCTGTGACTTGTCCTGATGTCAGTAGCATCAGCGTGGAGCATGGCCGATGGAGGCTTA
TCTTTGAGACACAGTATCAGTTCCAGGCCCAGCTGATGCTCATCTGTGACCCTGGCTACTACTATACTGGCCAAAGGGTCATCCGCTGTCAGGCCAATGG
CAAATGGAGCCTCGGGGACTCTACGCCCACCTGCCGAATCATCTCCTGTGGAGAGSKCCCGATTCCCCCCARTGGCCACCGCATCGGAACACTGTCTGTC
TACGGGGCAACAGCCATCTTCTCCTGCAATTCCGGATACACACTGGTGGGCTCCAGGGTGCGTGAGTGCATGGCCAATGGGCTCTGGAGTGGCTCTGAAG
TCCGCTGCCTTGCTGGACACTGTGGGACTCCTGAGCCCATTGTCAACGGACACATCAATGGGGAGAACTACAGCTACCGGGGCAGTGTGGTGTACCAATG
CAATGSTGGCTTCCGCCTGATCGGCATGTCTGTGCGCATCTGCCAGCAGGATCATCACTGGTCGGGCAAGACCCCTTTCTGTGTGCCAATTACCTGTGGA
CACCCAGGCAACCCTGTCAACGGCCTCACYCAGGGTAACCAGTTTAACCTCAACGATGTGGTCAAGTTTGTTTGCAACCCTGGGTATATGGCTGAGGGGG
CTGCTAGGTCCCAATGCCTGGCCAGCGGGCARTGGAGTGACATGCTGCCCACCTGCAGAATCATCAACTGTACAGATCCTGGACACCAAGAAAATAGTGT
TCGTCAGGTCCACGCCAGCGGCCCGCACAGGTTCAGCTTCGGCACCACTGTGTCTTACCGGTGCAACCACGGCTTCTACCTCCTGGGCACCCCAGTGCTC
AGCTGCCAGGGAGATGGCACATGGGACCGTCCCCGCCCCCAGTGTCTCTTGGTGTCCTGTGGCCATCCGGGCTCCCCGCCTCACTCCCAGATGTCTGGAG
ACAGTTATACTGTGGGAGCAGTGGTGCGGTACAGCTGCATCGGCAAGCGTACTCTGGTGGGAAACAGCACCCGCATGTGTGGGCTGGATGGACACTGGAC
TGGSTCCCTCCCTCACTGCTCAGGAACCAGCGTGGGAGTTTGCGGTGACCCTGGGATCCCGGCTCATGGCATCCGTTTGGGGGACAGCTTTGATCCAGGC
ACTGTGATGCGCTTCAGCTGTGAAGCTGGCCACGTGCTCCGGGGATCGTCMGAGCGCACCTGTCAAGCCAATGGCTCGTGGAGCGGCTCGCAGCCTGAGT
GTGGAGTGATCTCTTGTGGGAACCCTGGGACTCCAAGTAATGCCCGAGTTGTGTTCAGTGATGGCCTGGTTTTCTCCAGCTCTATCGTCTATGAGTGCCG
GGAAGGATACTACGCCACAGGCCTGCTCAGCCGTCACTGCTCGGTCAATGGTACCTGGACAGGCAGTGACCCTGAGTGCCTCGTCATAAACTGTGGTGAC
CCTGGGATTCCAGCCAATGGCCTTCGGCTGGGCAATGACTTCAGGTACAACAAAACTGTGACATATCAGTGTGTCCCTGGCTATATGATGGAGTCACATA
GAGTATCTGTGCTGAGCTGCACCAAGGACCGGACATGGAATGGAACCAAGCCCGTCTGCAAAGCTCTCATGTGCAAGCCACCTCCGCTCATCCCCAATGG
GAAGGTGGTGGGGTCTGACTTCATGTGGGGCTCAAGTGTGACTTATGCCTGCCTGGAGGGGTACCAGCTCTCCCTGCCCGCRGTGTTCACCTGTGAGGGA
AATGGGTCCTGGACCGGAGAGCTGCCTCAGTGTTTCCCTGTGTTCTGCGGGGATCCTGGTGTCCCGTCCCGTGGGAGGAGAGAGGACCGAGGCTTCTCCT
ACAGGTCATCTGTCTCCTTCTCCTGCCATCCCCCTCTGGTGCTGGTGGGCTCTCCACGCAGGTTTTGCCAGTCAGATGGGACATGGAGTGGCACCCAGCC
CAGCTGCATAGATCCGACCCTGACCACGTGTGCGGACCCTGGTGTGCCACAGTTTGGGATACAGAACAATTCTCAGGGCTACCAGGTTGGAAGCACAGTC
CTCTTCCGTTGTCAAAAAGGCTACCTGCTTCAGGGCTCCACCACCAGGACCTGCCTCCCAAACCTGACCTGGAGTGGAACCCCACCTGACTGTGTCCCCC
ACCACTGCAGGCAGCCAKAGACGCCAACGCATGCCAACGTCGGGGCCCTGGATTTGCCCTCCATGGGCTACACGCTCATCTACTCCTGCCAGGAGGGCTT
CTCCCTCAAGGGTGGCTCCGAGCACCGCACCTGCAAGGCGGATGGCAGCTGGACAGGCAAGCCGCCCATCTGCCTGGAGGTCCGGCCCAGTGGGAGACCC
ATCAACACTGCCCGGGAGCCACCGCTCACCCAAGCCTTGATCATCAGGCTACCCCAATTCTGGCAGCACACACAAAGTCCCTCTCACATCTATTTCTCAA
TTCCTCTAGTTCCTGGGGATGTTTTTGCCAAGAATTCCCTGTGGAAAGGGGCCTATGAATACCAGGGGAAGAAGCAGCCAGCCATGCTCAGAGTGACTGG
CTTCCAAGTTGCCAACAGCAAGGTCAATGCCACCATGATCGACCACAGTGGCGTGGAGCTGCACTTGGCTGGAACTTACAAGAAAGAAGATTTTCATCTC
CTACTCCAGGTGTACCAGATTACAGGGCCTGTGGAGATCTTTATGAATAAGTTCAAAGATGATCACTGGGCTTTAGATGGCCATGTCTCGTCAGAGTCCT
CCGGAGCCACYTTCATCTACCAAGGCTCTGTCAAGGGCCAAGGCTTTGGGCAGTTCGGCTTTCAAAGACTGGACCTCAGGCTGCTGGAGTCAGACCCCGA
GTCCATTGGCCGCCACTTTGCTTYCAACAGCAGCTCAGTGGCAGCCGCGATCCTGGTGCCTTTCATCGCCCTCATTATTGCGGGCTYCGTGCTCTATCTC
TACAAGCACAGGAGAAGACCCAAAGTTCCTTTCAATGGCTATGCTGGCCACGAGAACACCAATGTTCGGGCCACATTTGAGAACCCAATGTACGACCGCA
ACATCCAGCCCACAGACATCATGGCCAGCGAGGCGGAGTTCACAGTCAGCACAGTGTGCACAGCAGTATAGCCACCCGGCCTGGCCGCCACCACCGCCAC
CGAGAGCCCCGCCTCCAGCAGCCGTTCCCCAGGGGGCAGGAAGTAGGCTCCCCTGAGCACAGTGCCCAGTGCCCATCTTCGTTCGTCTCCTTGCCTGTGT
CTGCTACTGCTGGGACTCAGGCCCTCGCCCTGCCGCCATCTATGCCAGTTACCCTGGAGAGGACTCCTGCCGTGTCCTGAAAAGGCAGAAAAGGAAGAGG
GGCTGCAGACAGAGGAAGAAAGTTTATGGATTTAAAATAGCAAAGCAACTTGTGGATCTGTGTGTGTGTACACACCACCTCTCCTTCATTCACGTCCTAT
GGAAGAGACCATAAAGGCTTCAAAACTAGAAGTGCGCATGAAGGATGCTTCATGCCCTGTTCCCCACACAGAGAAGAGATGAAGAGGGGGAGGTACRGTC
AGCTTTCAAAACAATATGCCCCCCGCCCATCCCATGTGTGAGGACATGGTGACTCGGTGACTGTAACAGTAGGACACATCCCATCATGCGGTCAGAGTGC
AGAAACCCGGTCAGCGTGCAGAAACCAGCTGTCTGCTGATGAACGGCCCATCTGCACAGCGGCAGCAAGGATTACCCCAAGGGCAGGAAAAAAGTCTTTG
GAAATAGATTGAAAATCAGTTTCTTTATTTTTTTCAAACACTGTTTTATTGAGTTCTAAACCCAGTGGATTAAAAAGTCATTTGGGTCCTGGGAAGCACT
GGGAAAGAAGGGAGAGCCGGGGAGGATAGGGCAGGAGTCTGGCCAGGAGCCCAAGGTCAAGTCTGGCTGTCAACTGACAAAGAGAAGAGAAGACAAGTCT
GTGGCCCAGACAGGRTGCCAAGTCTGGGGGCAGCAGCAGGGTCCTTGAGAGAACAGGGGAGCAAGCCTGCCCCAGTACCCAAAAAACAATGGCTATCATG
TACTGGGGTTATTCTCTGTGCCTGACACTTTACCTRTAGTATTTCTAGTCTGCACAATAACACCAAAATGTAGGATTTGTTATTCCCCTTTGACAGATGA
GAAAACAGAAGCCTGCAAAGGTAAAGACAGAGTTAGGAAGTGTGGAGTCAGAATGCAAACCCAGATCAGTCTGCCCCAAAGTCCACTACACCAGCTGCCA
GAAACCCTGTTCTAGAAGGGGCAGCTAAGAAGGGAGGAGCCGATGAAWCTCTACAGTAGCACTGTGGCCAGGTCTGGAAAGCCAGGCAAGACACCTGTGT
GTCCTATCTGGGTTCTGCTGTCTCCGCGTAGGCAGCTTCGGGGCAAGGATTCAACTCCCCAGGCCTCCCACGGTTGGTGCTGGCTCCTTGGCTCCCAGCA
GCCGCTGACCATAGCCAGCAAAAGACCTGGCAGGTCCTGAATCAAAACAACAGAGTGGCTGAAAGTCACACCTCTCCAGCTCCTTGCGAGTGGGTTTGAT
TGATTTTGACAGCTATATCATGCTTGGGTCGTTCATGAATTCCATGAGAATTGTTGGGAAGTTCATGAGTTTAGGAATCAAAGTATAGCATTTAGGGCCA
CTTTCTCTGTCCTCGGGAAGGCCCCCACAAGCTTAAGCCCCTGTATACGTGTGACATGCTGGCCTCAGAGATTCATGTCACATATTGAAATAGCAAATAG
AAATGTGCAGGAGCGGAGGGACAGCGACACCTGGTTCTTAAGCAAATTCTAGATTGGAACAATTAGAAGATCTGACTGATGTTAAGAGTGGCCAGAGGAA
AGTGAGAGGCGTCCATTTYCAGCAGACACAATGGAGGCTGACAGAGGCAGGAGCCTACCCCTGGCCACACCACCTCTGGGACACGGCACCCCCCTGGGCC
TGGAGGGAGAGGGCCAATCCAGACACACTCACACTCTCATCTCTTTCCTTGGCTGGAAACAAGTGCAGGAAGCTCCCCTCCCAATTTCTTATGCTCCCTT
CCCCCTTACACTCCTCTCCTTCGACTGCTCCCTTCCCCCTTCTTATGCCCCTCTCAGACCACCCAGCGGATGCCTATT

Protein Sequence    (SEQ ID NO:1056):
SESAARLSPAGRTLGSFQPQKLRAPAYRDFFRAEKSSRALLTSFLLGGERSLSLGAAGRAMPRSRGRELGRCGCPAGRARGETGISALVPGAGSRWGRPP
PPTPPPLLLLLGCGLLSVSAAAGQNCTFQLHGPNGTVESPGFPYGYPNYANCTWTITAEEQHRIQLVFQSFALEEDFDVLSVFDGPPQPENLRTRLTGFQ
LPATIVSAATTLSLRLISDYAVSAQGFHATYEVLPSHTCGNPGRLPNGIQQGSTFNLGDKVRYSCNLGFFLEGHAVLTCHAGSENSATWDFPLPSCRADD
ACGGTLRGQSGIISSPHFPSEYHNNADCTWTILAELGDTIALVFIDFQLEDGYDFLEVTGTEGSSLWFTGASLPAPVISSKNWLRLHFTSDGNHRQRGFS
AQYQVKKQIELKSRGVKLMPSKDNSQKTSVLTQVGVSQGHNMCPDPGIPERGKRLGSDFRLGSSVQFTCNEGYDLQGSKRITCMKVSDMFAAWSDHRPVC
RARMCDAHLRGPSGIITSPNFPIQYDNNAHCVWIITALNPSKVIKLAFEEFDLERGYDTLTVGDGGQDGDQKTVLYILTGTSVPDLIVSTNHQMWLLFQT
DGSGSSLGFKASYEEIEQGSCGDPGIPAYGRREGSRFHHGDTLKFECQPAFELVGQKAITCQKNNQWSAKKPGCVFSCFFNFTSPSGVVLSPNYPEDYGN
HLHCVWLILARPESRIHLAFNDIDVEPQFDFLVIKDGATAEAPVLGTFSGNQLPSSITSSGHVARLEFQTDHSTGKRGFNITFTTFRHNECPDPGVPVNG
KRFGDSLQLGSSISFLCDEGFLGTQGSETITCVLKEGSVVWNSAVLRCEAPCGGHLTSPSGTILSPGWPGFYKDALSCAWVIEAQPGYPIKITFDRFKTE
VNYDTLEVRDGRTYSAPLIGVYHGTQVPQFLISTSNYLYLLFSTDKSHSDIGFQLRYETITLQSDHCLDPGIPVNGQRHGNDFYVGALVTFSCDSGYTLS
DGEPLECEPNFQWSRALPSCEALCGGFIQGSSGTILSPGFPDFYPNNLNCTWIIETSHGKGVFFTFHTFHLESGHDYLLITENGSFTQPLRQLTGSRLPA
PISAGLYGNFTAQVRFISDFSMSYEGFNITFSEYDLEPCEEPEVPAYSIRKGLQFGVGDTLTFSCFPGYRLEGTARITCLGGRRRLWSSPLPRCVAECGN
SVTGTQGTLLSPNFPVNYNNNHECIYSIQTQPGKGIQLKARAFELSEGDVLKVYDGNNNSARLLGVFSHSEMMGVTLNSTSSSLWLDFITDAENTSKGFE
LHFSSFELIKCEDPGTPKFGYKVHDEGHFAGSSVSFSCDPGYSLRGSEELLCLSGERRTWDRPLPTCVAECGGTVRGEVSGQVLSPGYPAPYEHNLNCIW
TIEAEAGCTIGLHFLVFDTEEVHDVLRIWDGPVESGVLLKELSGPALPKDLHSTFNSVVLQFSTDFFTSKQGFAIQFSVSTATSCNDPGIPQNGSRSGDS
WEAGDSTVFQCDPGYALQGSAEISCVKIENRFFWQPSPPTCIAPCGGDLTGPSGVILSPNYPEPYPPGKECDWKVTVSPDYVIALVFNIFNLEPGYDFLH
IYDGRDSLSPLIGSFYGSQLPGRIESSSNSLFLAFRSDASVSNAGFVIDYTENPRESCFDPGSIKNGTRVGSDLKLGSSVTYYCHGGYEVEGTSTLSCIL
GPDGKPVWNNPRPVCTAPCGGQYVGSDGVVLSPNYPQNYTSGQICLYFVTVPKDYVVFGQFAFFHTALNDVVEVHDGHSQHSRLLSSLSGSHTGESLPLA
TSNQVLIKFSAKGLAPARGFHFVYQAVPRTSATQCSSVPEPRYGKRLGSDFSVGAIVRFECNSGYALQGSPEIECLPVPGALAQWNVSAPTCVVPCGGNL
TERRGTILSPGFPEPYLNSLNCVWKIVVPEGAGIQIQVVSFVTEQNWDSLEVFDGADNTVTMLGSFSGTTVPALLNSTSNQLYLHFYSDISVSAAGFHLE
YKTVGLSSCPEPAVPSNGVKTGERYLVNDVVSFQCEPGYALQGHAHISCMPGTVRRWNYPPPLCIAQCGGTVEEMEGVILSPGFPGNYPSNMDCSWKIAL
PVGFGAHIQFLNFSTEPNHDYIEIRNGPYETSRMMGRFSGSELPSSLLSTSHETTVYFHSDHSQNRPGFKLEYQAYELQECPDPEPFANGIVRGAGYNVG
QSVTFECLPGYQLTGHPVLTCQHGTNRNWDHPLPKCEVPCGGNITSSNGTVYSPGFPSPYSSSQDCVWLITVPIGHGVRLNLSLLQTEPSGDFITIWDGP
QQTAPRLGVFTRSMAKKTVQSSSNQVLLKFHRDAATGGIFAIAFSAYPLTKCPPPTILPNAEVVTENEEFNIGDIVRYRCLPGFTLVGNEILTCKLGTYL
QFEGPPPICEVHCPTNELLTDSTGVILSQSYPGSYPQFQTCSWLVRVEPDYNISLTVEYFLSEKQYDEFEIFDGPSGQSPLLKALSGNYSAPLIVTSSSN
SVYLRWSSDHAYNRKGFKIRYSAPYCSLPRAPLHGFILGQTSTQPGGSIHFGCNAGYRLVGHSMAICTRHPQGYHLWSEAIPLCQALSCGLPEAPKNGMV
FGKEYTVGTKAVYSCSEGYHLQAGAEATAECLDTGLWSNRNVPPQCVPVTCPDVSSISVEHGRWRLIFETQYQFQAQLMLICDPGYYYTGQRVIRCQANG
KWSLGDSTPTCRIISCGELPIPPNGHRIGTLSVYGATAIFSCNSGYTLVGSRVRECMANGLWSGSEVRCLAGHCGTPEPIVNGHINGENYSYRGSVVYQC
NAGFRLIGMSVRICQQDHHWSGKTPFCVPITCGHPGNPVNGLTQGNQFNLNDVVKFVCNPGYMAEGAARSQCLASGQWSDMLPTCRIINCTDPGHQENSV
RQVHASGPHRFSFGTTVSYRCNHGFYLLGTPVLSCQGDGTWDRPRPQCLLVSCGHPGSPPHSQMSGDSYTVGAVVRYSCIGKRTLVGNSTRMCGLDGHWT
GSLPHCSGTSVGVCGDPGIPAHGIRLGDSFDPGTVMRFSCEAGHVLRGSSERTCQANGSWSGSQPECGVISCGNPGTPSNARVVFSDGLVFSSSIVYECR
EGYYATGLLSRHCSVNGTWTGSDPECLVINCGDPGIPANGLRLGNDFRYNKTVTYQCVPGYMMESHRVSVLSCTKDRTWNGTKPVCKALMCKPPPLIPNG
KVVGSDFMWGSSVTYACLEGYQLSLPAVFTCEGNGSWTGELPQCFPVFCGDPGVPSRGRREDRGFSYRSSVSFSCHPPLVLVGSPRRFCQSDGTWSGTQP
SCIDPTLTTCADPGVPQFGIQNNSQGYQVGSTVLFRCQKGYLLQGSTTRTCLPNLTWSGTPPDCVPHHCRQPETPTHANVGALDLPSMGYTLIYSCQEGF
SLKGGSEHRTCKADGSWTGKPPICLEVRPSGRPINTAREPPLTQALIIRLPQFWQHTQSPSHIYFSIPLVPGDVFAKNSLWKGAYEYQGKKQPAMLRVTG
FQVANSKVNATMIDHSGVELHLAGTYKKEDFHLLLQVYQITGPVEIFMNKFKDDHWALDGHVSSESSGATFIYQGSVKGQGFGQFGFQRLDLRLLESDPE
SIGRHFASNSSSVAAAILVPFIALIIAGFVLYLYKHRRRPKVPFNGYAGHENTNVRATFENPMYDRNIQPTDIMASEAEFTVSTVCTAV


SNP Information

Context             (SEQ ID NO:6219):
ACACATTAAGTGACGGGGAGCCTCTGGAGTGTGAGCCCAACTTCCAGTGGAGCCGGGCCCTGCCCAGTTGTGAAGCTCTCTGTGGTGGCTTCATTCAAGG
Y
TCCAGTGGGACCATCTTGTCGCCAGGGTTCCCTGACTTCTACCCCAACAACTTGAACTGCACCTGGATTATCGAAACATCTCATGGCAAGGGTGTGTTCT
Celera SNP ID:            hCV25955464
SNP Position Transcript:  3091
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,26)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1030, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:6220):
GTTATACTGTGGGAGCAGTGGTGCGGTACAGCTGCATCGGCAAGCGTACTCTGGTGGGAAACAGCACCCGCATGTGTGGGCTGGATGGACACTGGACTGG
S
TCCCTCCCTCACTGCTCAGGAACCAGCGTGGGAGTTTGCGGTGACCCTGGGATCCCGGCTCATGGCATCCGTTTGGGGGACAGCTTTGATCCAGGCACTG
Celera SNP ID:            hCV25616378
SNP Position Transcript:  9004
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 3001, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:6221):
AGGGTAACCAGTTTAACCTCAACGATGTGGTCAAGTTTGTTTGCAACCCTGGGTATATGGCTGAGGGGGCTGCTAGGTCCCAATGCCTGGCCAGCGGGCA
R
TGGAGTGACATGCTGCCCACCTGCAGAATCATCAACTGTACAGATCCTGGACACCAAGAAAATAGTGTTCGTCAGGTCCACGCCAGCGGCCCGCACAGGT
Celera SNP ID:            hCV25616379
SNP Position Transcript:  8632
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,34|G,4)   total(A,72|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 2877, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:6222):
CCAGTTCCTGAACTTCTCCACCGAGCCCAACCACGACTACATAGAAATCCGGAATGGCCCCTATGAGACCAGCCGCATGATGGGAAGATTCAGTGGAAGC
R
AGCTTCCAAGCTCCCTCCTCTCCACGTCCCACGAGACCACCGTGTATTTCCACAGCGACCACTCCCAGAATCGGCCAGGATTCAAGCTGGAGTATCAGGC
Celera SNP ID:            hCV25994894
SNP Position Transcript:  6425
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,22)   total(A,1|G,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2142, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:6223):
GCAGGGTCCTTGAGAGAACAGGGGAGCAAGCCTGCCCCAGTACCCAAAAAACAATGGCTATCATGTACTGGGGTTATTCTCTGTGCCTGACACTTTACCT
R
TAGTATTTCTAGTCTGCACAATAACACCAAAATGTAGGATTTGTTATTCCCCTTTGACAGATGAGAAAACAGAAGCCTGCAAAGGTAAAGACAGAGTTAG
Celera SNP ID:            hCV16116743
SNP Position Transcript:  12036
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6224):
TACGCGATGGGCGGACTTACTCAGCGCCCTTGATCGGGGTTTACCACGGGACCCAGGTTCCCCAGTTCCTCATCAGCACCAGCAACTACCTCTACCTCCT
Y
TTCTCTACCGACAAGAGTCACTCGGACATCGGCTTCCAGCTCCGCTATGAGACTATAACACTGCAGTCAGACCACTGTCTGGATCCAGGAATCCCAGTAA
Celera SNP ID:            hCV25926109
SNP Position Transcript:  2824
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 941, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:6225):
AAGCAGGGCTTTGCCATTCAATTTTCAGTGTCCACAGCAACGTCCTGCAATGACCCTGGGATCCCGCAGAATGGGAGTCGGAGTGGTGACAGTTGGGAAG
S
CGGCGACTCCACAGTGTTCCAGTGTGACCCTGGCTACGCGCTGCAGGGAAGTGCAGAGATCAGCTGTGTGAAGATCGAGAACAGGTTCTTCTGGCAGCCC
Celera SNP ID:            hCV25753167
SNP Position Transcript:  4509
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,38)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 1503, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:6226):
TACTACTATACTGGCCAAAGGGTCATCCGCTGTCAGGCCAATGGCAAATGGAGCCTCGGGGACTCTACGCCCACCTGCCGAATCATCTCCTGTGGAGAGC
K
CCCGATTCCCCCCAATGGCCACCGCATCGGAACACTGTCTGTCTACGGGGCAACAGCCATCTTCTCCTGCAATTCCGGATACACACTGGTGGGCTCCAGG
Celera SNP ID:            hCV27521400
SNP Position Transcript:  8157
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2719, (R,CGC)   (L,CTC)      



Context             (SEQ ID NO:6227):
GCCTCTTCCTCGCCTTCCGCAGCGATGCATCTGTGAGCAATGCTGGCTTCGTCATTGACTATACAGAAAACCCGCGGGAGTCATGTTTTGATCCTGGTTC
Y
ATCAAGAACGGCACACGGGTGGGGTCCGACCTGAAGCTGGGCTCCTCCGTCACCTACTACTGCCACGGGGGCTACGAAGTTGAGGGCACCTCGACCCTGA
Celera SNP ID:            hCV25758932
SNP Position Transcript:  4990
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1663, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:6228):
ATATCTACGACGGACGGGACTCTCTCAGCCCTCTCATAGGAAGCTTCTATGGCTCCCAGCTCCCAGGCCGCATTGAAAGCAGCAGCAACAGCCTCTTCCT
Y
GCCTTCCGCAGCGATGCATCTGTGAGCAATGCTGGCTTCGTCATTGACTATACAGAAAACCCGCGGGAGTCATGTTTTGATCCTGGTTCCATCAAGAACG
Celera SNP ID:            hCV25752368
SNP Position Transcript:  4900
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,38)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1633, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:6229):
AGGATTCAACATCACCTTCTCAGAGTACGACTTGGAGCCCTGTGAGGAGCCCGAGGTCCCAGCCTACAGCATCCGGAAGGGCTTGCAGTTTGGCGTGGGC
R
ACACCTTGACCTTCTCCTGCTTCCCCGGGTACCGTCTGGAGGGCACCGCCCGCATCACGTGCCTGGGGGGCAGACGGCGCCTGTGGAGCTCGCCTCTGCC
Celera SNP ID:            hCV25925182
SNP Position Transcript:  3476
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 1159, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:6230):
CGAAGCCATCCCTCTCTGTCAAGCTCTTTCCTGTGGGCTTCCTGAGGCCCCCAAGAATGGAATGGTGTTTGGCAAGGAGTACACAGTGGGAACCAAGGCC
R
TGTACAGCTGCAGTGAAGGCTACCACCTCCAGGCAGGCGCTGAGGCCACTGCAGAGTGTCTGGACACAGGCCTATGGAGCAACCGCAATGTCCCACCACA
Celera SNP ID:            hCV3190606
SNP Position Transcript:  7835
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,13)   caucasian(A,17|G,19)   total(A,34|G,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2612, (M,ATG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2612, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:6231):
CTGGGATCCCGGCTCATGGCATCCGTTTGGGGGACAGCTTTGATCCAGGCACTGTGATGCGCTTCAGCTGTGAAGCTGGCCACGTGCTCCGGGGATCGTC
M
GAGCGCACCTGTCAAGCCAATGGCTCGTGGAGCGGCTCGCAGCCTGAGTGTGGAGTGATCTCTTGTGGGAACCCTGGGACTCCAAGTAATGCCCGAGTTG
Celera SNP ID:            hCV26469418
SNP Position Transcript:  9151
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,4)   total(A,4|C,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 3050, (S,TCA)   (S,TCC)      



Context             (SEQ ID NO:6232):
CTGGCATACCCGAAAGGGGCAAAAGACTAGGCTCGGATTTCAGGTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAA
R
CGGATCACCTGTATGAAAGTGAGCGACATGTTTGCGGCCTGGAGCGACCACAGGCCAGTCTGCCGAGCCCGCATGTGTGATGCCCACCTTCGAGGCCCCT
Celera SNP ID:            hCV1948294
SNP Position Transcript:  1438
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,4)   caucasian(A,15|G,15)   total(A,19|G,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 479, (K,AAA)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 479, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:6233):
TCAGGTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAAGCGGATCACCTGTATGAAAGTGAGCGACATGTTTGCGGC
Y
TGGAGCGACCACAGGCCAGTCTGCCGAGCCCGCATGTGTGATGCCCACCTTCGAGGCCCCTCGGGCATCATCACCTCCCCCAATTTCCCCATTCAGTATG
Celera SNP ID:            hCV1948295
SNP Position Transcript:  1477
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,3)   total(C,3|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 492, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:6234):
TCAGAATGCAAACCCAGATCAGTCTGCCCCAAAGTCCACTACACCAGCTGCCAGAAACCCTGTTCTAGAAGGGGCAGCTAAGAAGGGAGGAGCCGATGAA
W
CTCTACAGTAGCACTGTGGCCAGGTCTGGAAAGCCAGGCAAGACACCTGTGTGTCCTATCTGGGTTCTGCTGTCTCCGCGTAGGCAGCTTCGGGGCAAGG
Celera SNP ID:            hCV2024114
SNP Position Transcript:  12248
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|A,10)      total(A,10|T,5) ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6235):
CTGTGCGCATCTGCCAGCAGGATCATCACTGGTCGGGCAAGACCCCTTTCTGTGTGCCAATTACCTGTGGACACCCAGGCAACCCTGTCAACGGCCTCAC
Y
CAGGGTAACCAGTTTAACCTCAACGATGTGGTCAAGTTTGTTTGCAACCCTGGGTATATGGCTGAGGGGGCTGCTAGGTCCCAATGCCTGGCCAGCGGGC
Celera SNP ID:            hCV25616380
SNP Position Transcript:  8530
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,4|T,36)   total(C,4|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 2843, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:6236):
TGTACCAGATTACAGGGCCTGTGGAGATCTTTATGAATAAGTTCAAAGATGATCACTGGGCTTTAGATGGCCATGTCTCGTCAGAGTCCTCCGGAGCCAC
Y
TTCATCTACCAAGGCTCTGTCAAGGGCCAAGGCTTTGGGCAGTTCGGCTTTCAAAGACTGGACCTCAGGCTGCTGGAGTCAGACCCCGAGTCCATTGGCC
Celera SNP ID:            hCV16116730
SNP Position Transcript:  10711
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 3570, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:6237):
CTATGGAAGAGACCATAAAGGCTTCAAAACTAGAAGTGCGCATGAAGGATGCTTCATGCCCTGTTCCCCACACAGAGAAGAGATGAAGAGGGGGAGGTAC
R
GTCAGCTTTCAAAACAATATGCCCCCCGCCCATCCCATGTGTGAGGACATGGTGACTCGGTGACTGTAACAGTAGGACACATCCCATCATGCGGTCAGAG
Celera SNP ID:            hCV1004650
SNP Position Transcript:  11497
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6238):
TGCCTTGCTGGACACTGTGGGACTCCTGAGCCCATTGTCAACGGACACATCAATGGGGAGAACTACAGCTACCGGGGCAGTGTGGTGTACCAATGCAATG
S
TGGCTTCCGCCTGATCGGCATGTCTGTGCGCATCTGCCAGCAGGATCATCACTGGTCGGGCAAGACCCCTTTCTGTGTGCCAATTACCTGTGGACACCCA
Celera SNP ID:            hCV25616383
SNP Position Transcript:  8406
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,38)   total(C,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2802, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:6239):
CAAAGGGTCATCCGCTGTCAGGCCAATGGCAAATGGAGCCTCGGGGACTCTACGCCCACCTGCCGAATCATCTCCTGTGGAGAGCTCCCGATTCCCCCCA
R
TGGCCACCGCATCGGAACACTGTCTGTCTACGGGGCAACAGCCATCTTCTCCTGCAATTCCGGATACACACTGGTGGGCTCCAGGGTGCGTGAGTGCATG
Celera SNP ID:            hCV25616385
SNP Position Transcript:  8172
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,34)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2724, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:6240):
CTACTACTATACTGGCCAAAGGGTCATCCGCTGTCAGGCCAATGGCAAATGGAGCCTCGGGGACTCTACGCCCACCTGCCGAATCATCTCCTGTGGAGAG
S
TCCCGATTCCCCCCAATGGCCACCGCATCGGAACACTGTCTGTCTACGGGGCAACAGCCATCTTCTCCTGCAATTCCGGATACACACTGGTGGGCTCCAG
Celera SNP ID:            hCV25616386
SNP Position Transcript:  8156
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,2)   caucasian(C,32)   total(C,64|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 2719, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:6241):
CTCTGGAGTGTGAGCCCAACTTCCAGTGGAGCCGGGCCCTGCCCAGTTGTGAAGCTCTCTGTGGTGGCTTCATTCAAGGCTCCAGTGGGACCATCTTGTC
R
CCAGGGTTCCCTGACTTCTACCCCAACAACTTGAACTGCACCTGGATTATCGAAACATCTCATGGCAAGGGTGTGTTCTTCACTTTCCACACCTTCCACC
Celera SNP ID:            hCV25926118
SNP Position Transcript:  3112
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1037, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:6242):
GTGGAGGCAACCTCACAGAGCGCAGGGGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCAACAGCCTCAACTGTGTGTGGAAGATCGTGGTCCC
Y
GAAGGCGCTGGCATCCAGATCCAAGTTGTCAGTTTTGTGACAGAGCAGAACTGGGACTCGCTGGAAGTATTTGATGGTGCAGATAACACTGTAACCATGC
Celera SNP ID:            hCV25994415
SNP Position Transcript:  5788
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,26)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1929, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6243):
AGGCTACCTGCTTCAGGGCTCCACCACCAGGACCTGCCTCCCAAACCTGACCTGGAGTGGAACCCCACCTGACTGTGTCCCCCACCACTGCAGGCAGCCA
K
AGACGCCAACGCATGCCAACGTCGGGGCCCTGGATTTGCCCTCCATGGGCTACACGCTCATCTACTCCTGCCAGGAGGGCTTCTCCCTCAAGGGTGGCTC
Celera SNP ID:            hCV29130345
SNP Position Transcript:  10118
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 3373, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:6244):
AGTTCCCTGGGATTCAAGGCTTCTTATGAAGAGATCGAGCAGGGCAGTTGCGGTGACCCTGGCATACCTGCATATGGCCGGAGGGAAGGCTCCCGGTTTC
R
CCACGGTGACACACTCAAGTTTGAGTGCCAGCCCGCCTTTGAGCTGGTGGGACAGAAGGCAATCACATGCCAAAAGAATAACCAATGGTCGGCTAAGAAG
Celera SNP ID:            hCV952608
SNP Position Transcript:  1914
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 638, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6245):
TGCCACGGGGGCTACGAAGTTGAGGGCACCTCGACCCTGAGCTGCATCCTGGGGCCTGATGGGAAGCCCGTGTGGAACAATCCCCGGCCAGTCTGCACAG
K
CCCCTGTGGGGGACAGTATGTGGGTTCGGACGGAGTGGTCTTGTCCCCCAACTACCCCCAGAACTACACCAGTGGACAGATCTGCTTGTATTTTGTTACT
Celera SNP ID:            hCV1004696
SNP Position Transcript:  5151
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6246):
CAGGCACTCAGGGTACTTTGCTGTCCCCCAACTTTCCTGTGAACTACAATAACAATCATGAATGCATCTACTCCATCCAGACCCAGCCAGGGAAGGGAAT
Y
CAGCTGAAAGCCAGGGCATTCGAACTCTCCGAAGGAGATGTCCTCAAGGTTTATGATGGCAACAACAACTCCGCCCGTTTGCTGGGAGTTTTTAGCCATT
Celera SNP ID:            hCV25928876
SNP Position Transcript:  3709
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,33)   caucasian(T,34)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1236, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:6247):
GGCTCTGTCAAGGGCCAAGGCTTTGGGCAGTTCGGCTTTCAAAGACTGGACCTCAGGCTGCTGGAGTCAGACCCCGAGTCCATTGGCCGCCACTTTGCTT
Y
CAACAGCAGCTCAGTGGCAGCCGCGATCCTGGTGCCTTTCATCGCCCTCATTATTGCGGGCTTCGTGCTCTATCTCTACAAGCACAGGAGAAGACCCAAA
Celera SNP ID:            hCV8922016
SNP Position Transcript:  10824
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 3608, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6248):
TTCCTCGAACCAGCGCCACGCAGTGCAGCTCTGTGCCGGAACCCCGCTATGGCAAGAGGCTGGGCAGTGACTTCTCGGTGGGGGCCATCGTCCGCTTCGA
W
TGCAACTCCGGCTATGCCCTGCAGGGGTCGCCAGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCAATGGAATGTCTCAGCGCCCACGTGTGTGG
Celera SNP ID:            hCV25972065
SNP Position Transcript:  5581
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 1860, (E,GAA)   (D,GAT)   



Context             (SEQ ID NO:6249):
CCCAGGTTCCCCAGTTCCTCATCAGCACCAGCAACTACCTCTACCTCCTCTTCTCTACCGACAAGAGTCACTCGGACATCGGCTTCCAGCTCCGCTATGA
S
ACTATAACACTGCAGTCAGACCACTGTCTGGATCCAGGAATCCCAGTAAATGGACAGCGTCATGGGAATGACTTCTACGTGGGCGCGCTGGTGACCTTCA
Celera SNP ID:            hCV25926196
SNP Position Transcript:  2875
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(C,1|G,37)   total(C,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 958, (D,GAC)   (E,GAG)   



Context             (SEQ ID NO:6250):
CTCCGCTCATCCCCAATGGGAAGGTGGTGGGGTCTGACTTCATGTGGGGCTCAAGTGTGACTTATGCCTGCCTGGAGGGGTACCAGCTCTCCCTGCCCGC
R
GTGTTCACCTGTGAGGGAAATGGGTCCTGGACCGGAGAGCTGCCTCAGTGTTTCCCTGTGTTCTGCGGGGATCCTGGTGTCCCGTCCCGTGGGAGGAGAG
Celera SNP ID:            hCV8922034
SNP Position Transcript:  9682
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 3227, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 3227, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:6251):
GGACAGCGACACCTGGTTCTTAAGCAAATTCTAGATTGGAACAATTAGAAGATCTGACTGATGTTAAGAGTGGCCAGAGGAAAGTGAGAGGCGTCCATTT
Y
CAGCAGACACAATGGAGGCTGACAGAGGCAGGAGCCTACCCCTGGCCACACCACCTCTGGGACACGGCACCCCCCTGGGCCTGGAGGGAGAGGGCCAATC
Celera SNP ID:            hCV8690567
SNP Position Transcript:  12819
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6252):
GAGTCAGACCCCGAGTCCATTGGCCGCCACTTTGCTTCCAACAGCAGCTCAGTGGCAGCCGCGATCCTGGTGCCTTTCATCGCCCTCATTATTGCGGGCT
Y
CGTGCTCTATCTCTACAAGCACAGGAGAAGACCCAAAGTTCCTTTCAATGGCTATGCTGGCCACGAGAACACCAATGTTCGGGCCACATTTGAGAACCCA
Celera SNP ID:            hCV26469440
SNP Position Transcript:  10887
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1056, 3629, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6253):
AGCCGGGGAGGATAGGGCAGGAGTCTGGCCAGGAGCCCAAGGTCAAGTCTGGCTGTCAACTGACAAAGAGAAGAGAAGACAAGTCTGTGGCCCAGACAGG
R
TGCCAAGTCTGGGGGCAGCAGCAGGGTCCTTGAGAGAACAGGGGAGCAAGCCTGCCCCAGTACCCAAAAAACAATGGCTATCATGTACTGGGGTTATTCT
Celera SNP ID:            hCV8690568
SNP Position Transcript:  11915
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1056, None   



Context             (SEQ ID NO:6254):
TCTCGGTGGGGGCCATCGTCCGCTTCGAATGCAACTCCGGCTATGCCCTGCAGGGGTCGCCAGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCA
R
TGGAATGTCTCAGCGCCCACGTGTGTGGTGCCGTGTGGAGGCAACCTCACAGAGCGCAGGGGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCA
Celera SNP ID:            hCV25972621
SNP Position Transcript:  5653
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1056, 1884, (Q,CAA)   (Q,CAG)   



Gene Number:                 129
Celera Gene:                 hCG2036650 - 206000045581846
Celera Transcript:           hCT2348198 - 206000045581810
Public Transcript Accession: NM_052896
Celera Protein:              hCP1913448 - 206000045581795
Public Protein Accession:    NP_443128
Gene Symbol:                 CSMD2
Protein Name:                CUB and Sushi multiple domains 2;KIAA1884
Celera Genomic Axis:         GA_x5YUV32W802(49520995..49555356)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:360):
GTTCTCATTAAGTTCAGCGCCAAAGGCCTCGCACCAGCCAGAGGCTTCCACTTTGTCTACCAAGCGGTTCCTCGAACCAGCGCCACGCAGTGCAGCTCTG
TGCCGGAACCCCGCTATGGCAAGAGGCTGGGCAGTGACTTCTCGGTGGGGGCCATCGTCCGCTTCGAWTGCAACTCCGGCTATGCCCTGCAGGGGTCGCC
AGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCARTGGAATGTCTCAGCGCCCACGTGTGTGGTGCCGTGTGGAGGCAACCTCACAGAGCGCAGG
GGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCAACAGCCTCAACTGTGTGTGGAAGATCGTGGTCCCYGAAGGCGCTGGCATCCAGATCCAAG
TTGTCAGTTTTGTGACAGAGCAGAACTGGGACTCGCTGGAAGTATTTGATGGTGCAGATAACACTGTAACCATGCTGGGGAGTTTCTCAGGAACAACCGT
GCCTGCCCTTCTGAACAGCACCTCCAACCAGCTCTACCTTCATTTCTACTCAGATATCAGCGTATCTGCAGCTGGCTTCCACTTGGAGTACAAAACGGTG
GGCCTGAGCAGTTGTCCGGAACCTGCTGTGCCCAGTAACGGGGTGAAGACTGGCGAGCGCTACTTGGTGAATGATGTGGTGTCTTTCCAGTGTGAGCCGG
GATATGCCCTCCAGGGCCACGCCCACATCTCCTGCATGCCCGGAACAGTGCGGCGATGGAACTACCCTCCTCCACTCTGTATTGCACAGTGTGGGGGAAC
AGTGGAGGAGATGGAGGGGGTGATCCTGAGCCCCGGCTTCCCAGGCAACTACCCCAGTAACATGGACTGCTCCTGGAAAATAGCACTGCCCGTGGGCTTT
GGAGCTCACATCCAGTTCCTGAACTTCTCCACCGAGCCCAACCACGACTACATAGAAATCCGGAATGGCCCCTATGAGACCAGCCGCATGATGGGAAGAT
TCAGTGGAAGCRAGCTTCCAAGCTCCCTCCTCTCCACGTCCCACGAGACCACCGTGTATTTCCACAGCGACCACTCCCAGAATCGGCCAGGATTCAAGCT
GGAGTATCAGGCCTATGAACTTCAAGAGTGCCCAGACCCAGAGCCCTTTGCCAATGGCATTGTGAGGGGAGCTGGCTACAACGTGGGACAATCAGTGACC
TTCGAGTGCCTCCCGGGGTATCAATTGACTGGCCACCCTGTCCTCACGTGTCAACATGGCACCAACCGGAACTGGGACCACCCCCTGCCCAAGTGTGAAG
TCCCTTGTGGCGGGAACATCACTTCTTCCAACGGCACTGTGTACTCCCCGGGGTTCCCTAGCCCGTACTCCAGCTCCCAGGACTGTGTCTGGCTGATCAC
CGTGCCCATTGGCCATGGCGTCCGCCTCAACCTCAGCCTGCTGCAGACAGAGCCCTCTGGAGATTTCATCACCATCTGGGATGGGCCACAGCAAACAGCA
CCACGGCTCGGCGTCTTCACCCGGAGCATGGCCAAGAAAACAGTGCAGAGTTCATCCAACCAGGTCCTGCTCAAGTTCCACCGTGATGCAGCCACAGGGG
GGATCTTCGCCATAGCTTTCTCCGGGCACTTGGCAGCTGTTTGTACATTGTGACACCCCTCCACGCACACATCTGCCCCCCAGCCACAGAAGCTTGGACC
AGAGGTGGACACCTGAGCTGACTGCAGCAGGGGCAATCAGATGTTCTCTCTTGGGAAGTTGAAATAGGACCCAAGAGATTCTACTTTTGCCTGGACCCAT
CTCCTGAAAAGATAAAAATCCAAGTGCAATGGATTGCTGCTCTTCTACTTTCCATGTGGACCAAAAAGTAGAACAATCCTATGTGCAGAAAGAGAATGAT
TGAGAAGTGGAAAA

Protein Sequence    (SEQ ID NO:1057):
VLIKFSAKGLAPARGFHFVYQAVPRTSATQCSSVPEPRYGKRLGSDFSVGAIVRFECNSGYALQGSPEIECLPVPGALAQWNVSAPTCVVPCGGNLTERR
GTILSPGFPEPYLNSLNCVWKIVVPEGAGIQIQVVSFVTEQNWDSLEVFDGADNTVTMLGSFSGTTVPALLNSTSNQLYLHFYSDISVSAAGFHLEYKTV
GLSSCPEPAVPSNGVKTGERYLVNDVVSFQCEPGYALQGHAHISCMPGTVRRWNYPPPLCIAQCGGTVEEMEGVILSPGFPGNYPSNMDCSWKIALPVGF
GAHIQFLNFSTEPNHDYIEIRNGPYETSRMMGRFSGSELPSSLLSTSHETTVYFHSDHSQNRPGFKLEYQAYELQECPDPEPFANGIVRGAGYNVGQSVT
FECLPGYQLTGHPVLTCQHGTNRNWDHPLPKCEVPCGGNITSSNGTVYSPGFPSPYSSSQDCVWLITVPIGHGVRLNLSLLQTEPSGDFITIWDGPQQTA
PRLGVFTRSMAKKTVQSSSNQVLLKFHRDAATGGIFAIAFSGHLAAVCTL


SNP Information

Context             (SEQ ID NO:6255):
GTGGAGGCAACCTCACAGAGCGCAGGGGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCAACAGCCTCAACTGTGTGTGGAAGATCGTGGTCCC
Y
GAAGGCGCTGGCATCCAGATCCAAGTTGTCAGTTTTGTGACAGAGCAGAACTGGGACTCGCTGGAAGTATTTGATGGTGCAGATAACACTGTAACCATGC
Celera SNP ID:            hCV25994415
SNP Position Transcript:  375
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,26)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1057, 125, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6256):
TCTCGGTGGGGGCCATCGTCCGCTTCGAATGCAACTCCGGCTATGCCCTGCAGGGGTCGCCAGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCA
R
TGGAATGTCTCAGCGCCCACGTGTGTGGTGCCGTGTGGAGGCAACCTCACAGAGCGCAGGGGCACCATCCTGTCCCCTGGCTTCCCAGAGCCGTACCTCA
Celera SNP ID:            hCV25972621
SNP Position Transcript:  240
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1057, 80, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:6257):
CCAGTTCCTGAACTTCTCCACCGAGCCCAACCACGACTACATAGAAATCCGGAATGGCCCCTATGAGACCAGCCGCATGATGGGAAGATTCAGTGGAAGC
R
AGCTTCCAAGCTCCCTCCTCTCCACGTCCCACGAGACCACCGTGTATTTCCACAGCGACCACTCCCAGAATCGGCCAGGATTCAAGCTGGAGTATCAGGC
Celera SNP ID:            hCV25994894
SNP Position Transcript:  1012
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,22)   total(A,1|G,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1057, 338, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:6258):
TTCCTCGAACCAGCGCCACGCAGTGCAGCTCTGTGCCGGAACCCCGCTATGGCAAGAGGCTGGGCAGTGACTTCTCGGTGGGGGCCATCGTCCGCTTCGA
W
TGCAACTCCGGCTATGCCCTGCAGGGGTCGCCAGAGATCGAGTGCCTCCCTGTGCCTGGGGCCTTGGCCCAATGGAATGTCTCAGCGCCCACGTGTGTGG
Celera SNP ID:            hCV25972065
SNP Position Transcript:  168
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1057, 56, (E,GAA)   (D,GAT)   



Gene Number:                 130
Celera Gene:                 hCG2036824 - 206000042058843
Celera Transcript:           hCT2341076 - 206000042058841
Public Transcript Accession: NM_015658
Celera Protein:              hCP1907660 - 206000042058839
Public Protein Accession:    NP_056473
Gene Symbol:                 MGC45873
Protein Name:                hypothetical protein MGC45873
Celera Genomic Axis:         GA_x5YUV32VTH2(1711837..1728175)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:361):
AGATCCCTGCGGCGTTCGCGAGGGTGGGACGGGAAGCGGGCTGGGAAGTCGGGCCGAGGGAAAAGTCTGAAGACGCTTATGTCCAAGGGGATCCTGCAGG
TGCATCCTCCGATCTGCGACTGCCCGGGCTGCCGAATATCCTCCCCGGTGAACCGGGGGCGGCTGGCAGACAAGAGGACAGTCGCCCTGCCTGCCGCCCG
GAACCTGAAGAAGGAGCGAACTCCCAGCTTCTCTGCCAGCGATGGTGACAGCGACGGGAGTGGCCCCACCTGTGGGCGGCGGCCAGGCTTGAAGCAGGAG
GATGGTCCGCACATCCGTATCATGAAGAGAAGAGTCCACACCCACTGGGACGTGAACATCTCTTTCCGAGAGGCGTCCTGCAGCCAGGACGGCAACCTTC
CCACCCTCATATCCAGCGTCCACCGCAGCCGCCACCTCGTTATGCCSGAGCATCAGAGCCGCTGTGAATTCCAGAGAGGCAGCCTGGAGATTGGCCTGCG
ACCCGCCGGTGACCTGTTGGGCAAGAGGCTGGGCCGCTCCCCCCGTATCAGCAGCGACTGCTTTTCAGAGAAGAGGGCACGAAGCGAATCGCCTCAAGAG
GCGCTGCTGCTGCCGCGGGAGCTGGGGCCCAGCATGGCCCCGGAGGACCATTACCGCCGGCTTGTGTCAGCACTGAGCGAGGCCAGCACCTTTGAGGACC
CTCAGCGCCTCTACCACCTGGGCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGTCTGGGCACAAGATGG
CTCGGAAGACGAGCCCCCCAAAGACTCGGACGGAGAGGACCCCGAGACGGCAGCTGTTGGGTGCAGGGGGCCCACTCCGGGCCAAGCTCCAGCTGGAGGG
GCCGGCGCCGAGGGGAAGGGGCTTTTCCCAGGGTCCACACTGCCCCTGGGCTTCCCTTATGCCGTCAGCCCCTACTTCCACACAGGCGCGGTAGGGGGAC
TCTCCATGGATGGGGAGGAGGCCCCAGCCCCTGAGGACGTCACCAAGTGGACCGTGGATGACGTCTGCAGCTTCGTGGGGGGCCTGTCTGGCTGTGGAGA
GTACACTCGGGTCTTCAGGGAGCAGGGGATCGACGGGGAGACCCTGCCACTGCTGACGGAGGAGCACCTGCTGACCAACATGGGGCTGAAGCTGGGGCCC
GCCCTCAAGATCCGGGCCCAGGTGGCCAGGCGCCTGGGCCGAGTTTTCTACGTGGCCAGCTTCCCCGTGGCTCTGCCACTGCAGCCACCAACCCTGCGGG
CCCCGGAGCGAGAACTCGGCACAGGAGAGCAGCCCTTGTCCCCCACRACGGCCACGTCCCCCTATGGAGGGGGCCACGCCCTTGCCGGTCAAACTTCACC
CAAGCAGGAGAATGGGACCTTGGCTCTACTTCCAGGGGCCCCCGACCCTTCCCAGCCTCTGTGTTGAGGTTGCCGGGGGTAGGGGTGGGGCCACACAAAT
CTCCAGGAGYCAYCACTCAACACAATGGCCCTGCCTCCCACCGCTTTATTTYTTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTT
CAAAGGAAARGAACAAATTTYCAAAGACTTGGGGGAGTGAAGGCAGAGCCTGGTGCARATGGACGAGGTCTGCAGACGGAGGGCARAGGTGGTGGAAGGG
GCCAGGGGCCTGCAGGCCTCCCCCTGGAACTGGGACTGGTCTCGGTCTGCTGACGTCAGGGTCAGCTCCCCCGCGGAGCTGACTTCAGCAGCCCACAGCT
GTGGGGCTTCAGCAGCCACACCAGCCCAGCCCAGCCCAGCTCTCGATACGTTTGGTCTTTCATGCTGAAAAATAAATAATAAAGCCTGTCCCGTG

Protein Sequence    (SEQ ID NO:1058):
MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREAS
CSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALS
EASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHVWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYF
HTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALP
LQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC


SNP Information

Context             (SEQ ID NO:6259):
AAGAAAATGTGACTTCAAAGGAAAAGAACAAATTTCCAAAGACTTGGGGGAGTGAAGGCAGAGCCTGGTGCAGATGGACGAGGTCTGCAGACGGAGGGCA
R
AGGTGGTGGAAGGGGCCAGGGGCCTGCAGGCCTCCCCCTGGAACTGGGACTGGTCTCGGTCTGCTGACGTCAGGGTCAGCTCCCCCGCGGAGCTGACTTC
Celera SNP ID:            hCV26072051
SNP Position Transcript:  1686
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None   



Context             (SEQ ID NO:6260):
CCAGCCTCTGTGTTGAGGTTGCCGGGGGTAGGGGTGGGGCCACACAAATCTCCAGGAGCCACCACTCAACACAATGGCCCTGCCTCCCACCGCTTTATTT
Y
TTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAAAGAACAAATTTCCAAAGACTTGGGGGAGTGAAGGCAGAGCCTG
Celera SNP ID:            hCV11447012
SNP Position Transcript:  1552
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,36)   total(C,70|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None



Context             (SEQ ID NO:6261):
TCTACGTGGCCAGCTTCCCCGTGGCTCTGCCACTGCAGCCACCAACCCTGCGGGCCCCGGAGCGAGAACTCGGCACAGGAGAGCAGCCCTTGTCCCCCAC
R
ACGGCCACGTCCCCCTATGGAGGGGGCCACGCCCTTGCCGGTCAAACTTCACCCAAGCAGGAGAATGGGACCTTGGCTCTACTTCCAGGGGCCCCCGACC
Celera SNP ID:            hCV25760128
SNP Position Transcript:  1347
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1058, 423, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:6262):
GAATGGGACCTTGGCTCTACTTCCAGGGGCCCCCGACCCTTCCCAGCCTCTGTGTTGAGGTTGCCGGGGGTAGGGGTGGGGCCACACAAATCTCCAGGAG
Y
CACCACTCAACACAATGGCCCTGCCTCCCACCGCTTTATTTCTTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAAA
Celera SNP ID:            hCV25612508
SNP Position Transcript:  1510
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,36)   total(C,69|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None



Context             (SEQ ID NO:6263):
TGGGACCTTGGCTCTACTTCCAGGGGCCCCCGACCCTTCCCAGCCTCTGTGTTGAGGTTGCCGGGGGTAGGGGTGGGGCCACACAAATCTCCAGGAGCCA
Y
CACTCAACACAATGGCCCTGCCTCCCACCGCTTTATTTCTTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAAAGAA
Celera SNP ID:            hCV25612509
SNP Position Transcript:  1513
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None



Context             (SEQ ID NO:6264):
GGGACGTGAACATCTCTTTCCGAGAGGCGTCCTGCAGCCAGGACGGCAACCTTCCCACCCTCATATCCAGCGTCCACCGCAGCCGCCACCTCGTTATGCC
S
GAGCATCAGAGCCGCTGTGAATTCCAGAGAGGCAGCCTGGAGATTGGCCTGCGACCCGCCGGTGACCTGTTGGGCAAGAGGCTGGGCCGCTCCCCCCGTA
Celera SNP ID:            hCV11610708
SNP Position Transcript:  447
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,11)   total(G,1|C,11) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1058, 123, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:6265):
CCACCACTCAACACAATGGCCCTGCCTCCCACCGCTTTATTTCTTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAA
R
GAACAAATTTCCAAAGACTTGGGGGAGTGAAGGCAGAGCCTGGTGCAGATGGACGAGGTCTGCAGACGGAGGGCAGAGGTGGTGGAAGGGGCCAGGGGCC
Celera SNP ID:            hCV25612519
SNP Position Transcript:  1610
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,32|G,4)   total(A,66|G,6)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None



Context             (SEQ ID NO:6266):
GTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAAAGAACAAATTTCCAAAGACTTGGGGGAGTGAAGGCAGAGCCTGGTGCA
R
ATGGACGAGGTCTGCAGACGGAGGGCAGAGGTGGTGGAAGGGGCCAGGGGCCTGCAGGCCTCCCCCTGGAACTGGGACTGGTCTCGGTCTGCTGACGTCA
Celera SNP ID:            hCV27470253
SNP Position Transcript:  1658
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None   



Context             (SEQ ID NO:6267):
CACAATGGCCCTGCCTCCCACCGCTTTATTTCTTTCGGTTTCGGATGCAAAACAAAAAATTTTAAAAGAAAATGTGACTTCAAAGGAAAAGAACAAATTT
Y
CAAAGACTTGGGGGAGTGAAGGCAGAGCCTGGTGCAGATGGACGAGGTCTGCAGACGGAGGGCAGAGGTGGTGGAAGGGGCCAGGGGCCTGCAGGCCTCC
Celera SNP ID:            hCV11447016
SNP Position Transcript:  1621
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,32|T,4)   total(C,67|T,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1058, None   



Gene Number:                 131
Celera Gene:                 hCG2038590 - 208000027041010
Celera Transcript:           hCT2343016 - 208000027041011
Public Transcript Accession: 
Celera Protein:              hCP1908310 - 348067747
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W1V9(17287527..17321362)
Chromosome:                  Chr9
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:362):
GCTGGAGATCCAGGAAGCCCAGGTATCGGATAAAGGTTTATACAGCTGTAAAGTCAGCAACGTGGCTGGGGAGGCCGTGCGGACCTTCACCCTCACCGTC
CAGGTGCCCCCAACATTTGAGAACCCCAAGACAGAGACAGTGAGCCAGGTGGCTGGGAGCCCCCTGGTCCTGACCTGTGATGTGTCCGGGGTCCCTGCAC
CCACGGTCACTTGGCTGAAGGACAGGATGCCYGTGGAGAGCAGCGCGGTGCACGGTGTGGTCTCCCGGGGGGGCCGCCTCCAGCTGAGCCGCCTGCAACC
GGCCCAGGCGGGCACCTACACGTGCGTGGCTGAGAACACCCAGGCTGAGGCCCGCAAGGACTTCGTGGTAGCAGTGCTGGTGGCCCCCCGGATCCGGAGC
TCGGGCGTGGCGCGGGAGCACCATGTCTTGGAAGGGCAGGAGGTGCGGCTGGACTGTGAGGCCGATGGGCAGCCGCCGCCGGACGTGGCCTGGCTGAAGG
ACGGCAGCCCGCTGGGCCAGGACATGGGCCCCCACCTCCGGTTCTACCTGGACGGCGGCTCCCTGGTGCTAAAAGGCCTGAGGGCCTCGGACGCGGGTGC
CTACACCTGCGTGGCCCACAACCCAGCCGGGGAGGACGCCAGGCTGCACACGGTGAATGTGCTGGTTCCTCCCACCATCAAGCAGGGAGCAGACGGCTCG
GGGACCCTGGTGAGCAGGCCTGGGGAGCTGGTGACCATGGTGTGCCCTGTGCGGGGCTCCCCGCCCATCCACGTGAGCTGGCTCAAGGACGGCCTGCCCC
TCCCGCTCTCCCAGCGCACCCTCCTCCACGGCTCTGGCCACACCCTCAGGATTTCCAAGGTGCAATTGGCAGACGCTGGCATCTTCACCTGTGTGGCCGC
AAGCCCAGCTGGCGTGGCGGACAGGAACTTCACCTTGCAGTGCCCCCTGTCCTGGAGCCGGTGGAGTTCCAGAATGACGTGGTGGTGGTTCGTGGCTCCC
TGGTGGAACTCCCGTGCGAGGCCCGGGGCGTTCCCCTGCCTCTCGTGTCGTGGATGAAGGATGGGGAACCCTTGTTGTCCCAGAGCCTCGAGCAGGGGCC
CAGCCTGCAGCTGGAGGCAGTGGGAGCTGGTGACTCGGGGACCTACTCCTGTGTGGCCGTGAGCGAGGCGGGGGAAGCCAGGAGGCATTTCCAGCTGACC
GTCATGGAGCCCCCTCACATTGAGGACTCAGGCCAGCCTACAGAGCTGTCGCTGACCCCCGGCGCCCCCATGGAGCTCCTCTGTGATGCCCAGGGCACCC
CCCAGCCCAACATCACCTGGCATAAGGACGGGCAGGCCCTGACCAGGCTGGAGAACAACAGCAGAGCCACACGGGTGCTCCGGGTGGAGAATGTGCAGGT
TAGGGATGCTGGGCTGTACACTTGTCTGGCTGAAAGCCCTGCAGGTGCAATTGAGAAGAGCTTCCGGGTCAGGGTTCAAGCCCCTCCAAACATTGTTGGG
CCCCGAGGCCCCCGCTTTGTGGTCGGCCTGGCCCCAGGGCAGCTGGTCCTGGAGTGTTCGGTGGAGGCAGAGCCAGCGCCCAAGATCACGTGGCACCGAG
ACGGCATTGTGCTGCAGGAGGACGCCCACACACAATTCCCGGAGCGGGGCAGGTTCCTCCAGCTGCAGGCCCTGAGCACGGCTGACAGCGGCGACTACAG
CTGCACAGCCCGCAACGCCGCAGGCAGCACTAGTGTCGCCTTCCGCGTGGAGATCCACACGGTGCCCACCATCCGGTCAGGACCACCTGCAGTGAACGTC
TCAGTGAACCAGACAGCCCTGCTGCCTTGCCAGGCCGACGGCGTGCCCGCACCCCTCGTGAGCTGGCGGAAGGACAGGGTCCCCCTGGATCCCAGGAGCC
CCAGGTTTGAAATTCTGCCTGAGGGTTCCCTGAGAATCCAGCCAGTCCTTGCCCAGGACGCCGGCCACTACCTCTGCCTGGCATCCAACTCTGCTGGCTC
CGATCGTCAAGGCCGTGACCTACGGGTCTTGGCCTTGCTGCCCTGCGAGGCCAGCGGCTCCCCTAAGCCCCTGGTGGTCTGGTGGAAGGACGGACAGAAG
CTGGACTTCCGCCTGCAGCAGGGCGCCTACCGGCTCCTGCCCTCCAACGCCCTGCTCCTCACGGCCCCCGGCCCCCAGGACTCAGCCCAGTTTGAATGCG
TGGTGAGCAATGAGGTGGGCGAGGCCCACAGGCTCTACCAGGTGACCGTCCATGTGCCTCCCACCATTGCCGATGACCAGACAGACTTCACCGTGACCAT
GATGGCACCTGTGGTCCTCACATGTCACAGCACGGGTATACCAGCTCCGACCGTGTCCTGGAGCAAGGCAGGCGCCCAGCTAGGAGCTCGGGGGAGTGGC
TATCGTGTCTCACCRTCGGGCGCCCTGGAGATCGGGCAGGCCCTCCCCATCCACGCAGGCCGCTACACCTGCTCAGCCCGCAACTCTGCCGGCGTAGCCC
ACAAGCACGTCTTCCTCACTGTGCAAGCCTCCCCGGTGGTGAAGCCGCTGCCCAGCGTGGTTCGGGCAGTGGCAGAGGAGGAGGTGCTGCTGCCCTGCGA
GGCCTCAGGCATCCCCCGGCCGACCATCACCTGGCAGAAGGAAGGGCTCAACGTCGCTACTGGAGTGAGTACCCAGGTCCTACCAGGCGGACAGCTGCGG
ATTGCCCATGCCAGCCCAGAGGATGCTGGAAACTATCTCTGCATCGCTAAGAACAGTGCGGGCAGTGCCATGGGGAAGACGCGGCTGGTGGTGCAAGTCC
CACCAGTGATCGAGAATGGCCTCCCAGACCTGTCCACCACCGAAGGCTCCCACGCCTTCTTGCCTTGCAAGGCGAGGGGCAGTCCTGAGCCCAACATCAC
CTGGGACAAAGATGGCCAGCCTGTGTCGGGCGCCGAGGGGAAGTTCACCATCCAGCCTTCTGGGGAGTTGCTGGTGAAGAACTTGGAGGGCCAGGACGCA
GGCACCTATACCTGTACCGCTGAGAACGCCGTGGGCCGGGCCCGCCGCCGCGTGCACCTCACCATCCTGGTACTGCCTGTGTTCACCACCCTGCCTGGGG
ACCGCAGCCTGCGCCTTGGGGACAGGCTGTGGCTTCGCTGTGCAGCCCGGGGCAGCCCCACCCCTCRCATTGGCTGGACTGTCAACGACCGGCCAGTCAC
AGAAGGGGTGTCTGAGCAGGATGGAGGCAGCACGCTGCAGCGGGCCGCTGTCTCCAGAGAAGACAGCGGGACCTATGTCTGCTGGGCGGAGAACAGAGTG
GGCCGCACGCAGGCGGTCAGCTTYGTCCACGTGAAGGAGGCTCCTGTCCTACAAGGGGAGGCTTTCTCCTACCTGGTGGAACCTGTAGGAGGCAGCATTC
AGCTAGACTGTGTGGTGYGTGGAGACCCAGTGCCGGACATCCACTGGATCAAAGATGGCCTTCCACTGCGGGGCAGCCACCTCCGGCACCAGCTGCAGAA
TGGCTCGCTGACCATCCACAGGACTGAGAGGGACGATGCGGGACGGTACCAGTGCCTGGCAGAGAATGAGATGGGCGTGGCGAAGAAAGTGGTGATCCTC
GTCCTGCAGAGTGCTCCGGTGTTCCAGGTGGAGCCCCAGGACATGACAGTGAGATCTGGGGATGACGTGGCCCTGCGGTGCCAGGCCACTGGAGARCCCA
CACCCACCATTGAATGGCTACAGGCGGGTCAACCYTTGCGGGCCAGCCGGCGGCTCCGGACCCTGCCCGATGGGAGCCTGTGGCTGGAGAACGTGGAGAC
TGGGGATGCAGGCACCTACGACTGCGTCGCTCACAACCTCCTGGGCTCTGCCACAGCCCGGGCGTTCCTGGTCGTGAGAGGTATGGGGCATCCCTGTCTG
GACCTTCGTGGACAGAGGCAGGATCTCTTGCCGATGGGGATTGTGTGGTGCTTATGGGAGACCTGTCCCCTGCCTTGCCAGCTCCCCACCTCTTCCCTTT
GCTTCATCACAAGCCCAGAATGAACCCCTACCCTGCCCGTTTACAGTTGGGTAAACTGAATCTTGGAGGTGCTGTTTGCTGCTCATCTTGGACAGGGAAC
ACAGGTTGTTCCTGCTTAACTGGCACAAATGCATGTCCTCTGTCTGGACACTGCACAGCCCCTGGAAGCAGGCAGAGGAAGACAAGGGCATCCCCGGTGC
CCTCGGGGGCTGCTGTGAAAAGTCTGTGCATCAGTGCATGTCCCAGGCATCACACATTGCCTGGCCGTGGCAGGTGGTTGGAAAAGAAATGGCTTCCTGG
TGGGATGGACCCCTGCCATCTCGATTCCTCAATCAGCTCCCTTCTACCTTGGGTCAGACCAACTTTAAAATTAAGAAAAGATCTATCCTGAGAAACCACA
GTAAATGGATTCAGACCTGC

Protein Sequence    (SEQ ID NO:1059):
GRWAAAAGRGLAEGRQPAGPGHGPPPPVLPGRRLPGAKRPEGLGRGCLHLRGPQPSRGGRQAAHGECAGSSHHQAGSRRLGDPGEQAWGAGDHGVPCAGL
PAHPRELAQGRPAPPALPAHPPPRLWPHPQDFQGAIGRRWHLHLCGRKPSWRGGQELHLAVPPVLEPVEFQNDVVVVRGSLVELPCEARGVPLPLVSWMK
DGEPLLSQSLEQGPSLQLEAVGAGDSGTYSCVAVSEAGEARRHFQLTVMEPPHIEDSGQPTELSLTPGAPMELLCDAQGTPQPNITWHKDGQALTRLENN
SRATRVLRVENVQVRDAGLYTCLAESPAGAIEKSFRVRVQAPPNIVGPRGPRFVVGLAPGQLVLECSVEAEPAPKITWHRDGIVLQEDAHTQFPERGRFL
QLQALSTADSGDYSCTARNAAGSTSVAFRVEIHTVPTIRSGPPAVNVSVNQTALLPCQADGVPAPLVSWRKDRVPLDPRSPRFEILPEGSLRIQPVLAQD
AGHYLCLASNSAGSDRQGRDLRVLALLPCEASGSPKPLVVWWKDGQKLDFRLQQGAYRLLPSNALLLTAPGPQDSAQFECVVSNEVGEAHRLYQVTVHVP
PTIADDQTDFTVTMMAPVVLTCHSTGIPAPTVSWSKAGAQLGARGSGYRVSPSGALEIGQALPIHAGRYTCSARNSAGVAHKHVFLTVQASPVVKPLPSV
VRAVAEEEVLLPCEASGIPRPTITWQKEGLNVATGVSTQVLPGGQLRIAHASPEDAGNYLCIAKNSAGSAMGKTRLVVQVPPVIENGLPDLSTTEGSHAF
LPCKARGSPEPNITWDKDGQPVSGAEGKFTIQPSGELLVKNLEGQDAGTYTCTAENAVGRARRRVHLTILVLPVFTTLPGDRSLRLGDRLWLRCAARGSP
TPRIGWTVNDRPVTEGVSEQDGGSTLQRAAVSREDSGTYVCWAENRVGRTQAVSFVHVKEAPVLQGEAFSYLVEPVGGSIQLDCVVRGDPVPDIHWIKDG
LPLRGSHLRHQLQNGSLTIHRTERDDAGRYQCLAENEMGVAKKVVILVLQSAPVFQVEPQDMTVRSGDDVALRCQATGEPTPTIEWLQAGQPLRASRRLR
TLPDGSLWLENVETGDAGTYDCVAHNLLGSATARAFLVVRGMGHPCLDLRGQRQDLLPMGIVWCLWETCPLPCQLPTSSLCFITSPE


SNP Information

Context             (SEQ ID NO:6268):
TCCTCGTCCTGCAGAGTGCTCCGGTGTTCCAGGTGGAGCCCCAGGACATGACAGTGAGATCTGGGGATGACGTGGCCCTGCGGTGCCAGGCCACTGGAGA
R
CCCACACCCACCATTGAATGGCTACAGGCGGGTCAACCCTTGCGGGCCAGCCGGCGGCTCCGGACCCTGCCCGATGGGAGCCTGTGGCTGGAGAACGTGG
Celera SNP ID:            hCV1768086
SNP Position Transcript:  3696
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,12|G,16)   total(A,14|G,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1059, 1079, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,5)   total(G,5|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1059, 1079, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:6269):
CCCAGGACATGACAGTGAGATCTGGGGATGACGTGGCCCTGCGGTGCCAGGCCACTGGAGAGCCCACACCCACCATTGAATGGCTACAGGCGGGTCAACC
Y
TTGCGGGCCAGCCGGCGGCTCCGGACCCTGCCCGATGGGAGCCTGTGGCTGGAGAACGTGGAGACTGGGGATGCAGGCACCTACGACTGCGTCGCTCACA
Celera SNP ID:            hCV25998440
SNP Position Transcript:  3735
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,33|T,1)   total(C,45|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1059, 1092, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6270):
CAGCTTCGTCCACGTGAAGGAGGCTCCTGTCCTACAAGGGGAGGCTTTCTCCTACCTGGTGGAACCTGTAGGAGGCAGCATTCAGCTAGACTGTGTGGTG
Y
GTGGAGACCCAGTGCCGGACATCCACTGGATCAAAGATGGCCTTCCACTGCGGGGCAGCCACCTCCGGCACCAGCTGCAGAATGGCTCGCTGACCATCCA
Celera SNP ID:            hCV29292333
SNP Position Transcript:  3418
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1059, 987, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:6271):
TCCTCACATGTCACAGCACGGGTATACCAGCTCCGACCGTGTCCTGGAGCAAGGCAGGCGCCCAGCTAGGAGCTCGGGGGAGTGGCTATCGTGTCTCACC
R
TCGGGCGCCCTGGAGATCGGGCAGGCCCTCCCCATCCACGCAGGCCGCTACACCTGCTCAGCCCGCAACTCTGCCGGCGTAGCCCACAAGCACGTCTTCC
Celera SNP ID:            hCV7434823
SNP Position Transcript:  2415
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1059, 652, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:6272):
GAGGCAGCACGCTGCAGCGGGCCGCTGTCTCCAGAGAAGACAGCGGGACCTATGTCTGCTGGGCGGAGAACAGAGTGGGCCGCACGCAGGCGGTCAGCTT
Y
GTCCACGTGAAGGAGGCTCCTGTCCTACAAGGGGAGGCTTTCTCCTACCTGGTGGAACCTGTAGGAGGCAGCATTCAGCTAGACTGTGTGGTGCGTGGAG
Celera SNP ID:            hCV25998474
SNP Position Transcript:  3324
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,1)   caucasian(C,32)   total(C,41|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1059, 955, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:6273):
CTGGTACTGCCTGTGTTCACCACCCTGCCTGGGGACCGCAGCCTGCGCCTTGGGGACAGGCTGTGGCTTCGCTGTGCAGCCCGGGGCAGCCCCACCCCTC
R
CATTGGCTGGACTGTCAACGACCGGCCAGTCACAGAAGGGGTGTCTGAGCAGGATGGAGGCAGCACGCTGCAGCGGGCCGCTGTCTCCAGAGAAGACAGC
Celera SNP ID:            hCV25969275
SNP Position Transcript:  3167
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(G,28)   total(A,3|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1059, 903, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:6274):
CAGAGACAGTGAGCCAGGTGGCTGGGAGCCCCCTGGTCCTGACCTGTGATGTGTCCGGGGTCCCTGCACCCACGGTCACTTGGCTGAAGGACAGGATGCC
Y
GTGGAGAGCAGCGCGGTGCACGGTGTGGTCTCCCGGGGGGGCCGCCTCCAGCTGAGCCGCCTGCAACCGGCCCAGGCGGGCACCTACACGTGCGTGGCTG
Celera SNP ID:            hCV25968726
SNP Position Transcript:  232
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,35|T,1)   total(C,64|T,10)
SNP Type:                 PUTATIVE UTR 5
Protein Coding:           SEQ ID NO:1059, None



Gene Number:                 132
Celera Gene:                 hCG2038595 - 207000006918222
Celera Transcript:           hCT2343021 - 207000006918224
Public Transcript Accession: 
Celera Protein:              hCP1908753 - 207000006918209
Public Protein Accession:    
Gene Symbol:                 LOC340273
Protein Name:                hypothetical protein LOC340273
Celera Genomic Axis:         GA_x5YUV32W3JR(13877417..13951558)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:363):
CTACAATCGTGGTAGCACACCGACTTTCTACTATTCGAAGTGCAGATTTGATTGTGACCCTAAAGGATGGAATGCTGGCRGAGAAAGGAGCACATGCTGA
ACTAATGGCAAAACGAGGTCTATATTATTCACTTGTGATGTCACAGGATATTAAAAAAGCTGATGAACAGATGGAGTCAATGACATATTCTACTGAAAGA
AAGACCAACTCACTTCCTCTGCACTCTGTGAAGAGCATCAAGTCAGACTTCATTGACAAGGCTGAGGAATCCACCCAATCTAAAGAGATAAGTCTTCCTG
AAGTCTCTCTATTAAAAATTTTAAAGTTAAACAAGCCTGAATGGCCTTTTGTGGTTCTGGGGACATTGGCTTCTGTTCTAAATGGAACTGTTCATCCAGT
ATTTTCCATCATCTTTGCAAAAATTATAACCATGTTTGGAAATAATGATAAAACCACATTAAAGCATGATGCAGAAATTTATTCCATGATATTCGTCATT
TTGGGTGTTATTTGCTTTGTCAGTTATTTCATGCAGGGATTATTTTACGGCAGAGCAGGGGAAATTTTAACGATGAGATTAAGACACTTGGCCTTCAAAG
CCATGTTATATCAGGATATTGCCTGGTTTGATGAAAAGGAAAACAGCACAGGAGGCTTGACAACAATATTAGCCATAGATATAGCACAAATTCAAGGAGC
AACAGGTTCCAGGATTGGCGTCTTAACACAAAATGCAACTAACATGGGACTTTCAGTTATCATTTCCTTTATATATGGATGGGAGATGACATTCCTGATT
CTGAGTATTGCTCCAGTACTTGCCGTGACAGGAATGATTGAAACCGCAGCAATGACTGGATTTGCCAACAAAGATAAGCAAGAACTTAAGCATGCTGGAA
AGATAGCAACTGAAGCTTTGGAGAATATACGTACTATAGTGTCATTAACAAGGGAAAAAGCCTTCGAGCAAATGTATGAAGAGATGCTTCAKACTCAACA
CAGAAATACCTCGAAGAAARCACAGATTATTGGAAGCTGTTATGCATTCAGCCATGCCTTTATATATTTTGCCTATGCRGCAGGGTTTCGATTTGGAGCC
TATTTAATTCAAGCTGGACGAATGACCCCAGAGGGCATGTTCATAGTTTTTACTGCAATTGCATATGGAGCTATGGCCATCGGARAAACGCTCGTTTTGG
CTCCTGAATATTCCAAAGCCAAATCGGGGGCTGCGCATCTGTTTGCCTTGTTGGAAAAGAAACCAAATATAGACAGCCGCAGTCAAGAAGGGAAAAAGCC
AGACACATGTGAAGGGAATTTAGAGTTTCGAGAAGTCTCTTTCTTCTATCCATGTCGCCCAGATGTTTTCATCCTCCGTGGCTTATCCCTCAGTATTGAG
CGAGGAAAGACAGTAGCATTTGTGGGGAGCAGCGGCTGTGGGAAAAGCACTTCTGTTCAACTTCTGCAGAGACTTTATGACCCCGTGCAAGGACAAGTGC
TGTTTGATGGTGTGGATGCAAAAGAATTGAATGTACAGTGGCTCCGTTCCCAAAYAGCAATCGTTCCTCAAGAGCCTGTGCTCTTCAACTGCAGCATTGC
TGAGAACATCGCCTATGGTGACAACAGCCGTGTGGTGCCATTAGATRAGATCAAAGAAGCCGCAAATGCAGCAAATATCCATTCTTTTATTGAAGGTCTC
CCTGAGAAATACAACACACAAGTTGGACTGAAAGGAGCACAGCTTTCTGGCGGCCAGAAACAAAGACTAGCTATTGCAAGGGCTCTTCTCCAAAAACCCA
AAATTTTATTGTTGGATGAGGCCACTTCAGCCCTCGRTAATGACAGTGAGAAGGTGGTTCAGCATGCCCTTGATAAAGCCAGGACRGGAAGGACATGCCT
AGTGGTCACTCACAGGCTCTCTGCAATTCAGAACGCAGATTTGATAGTGGTTCTGCACAATGGAAAGATAAAGGAACAAGGAACTCATCAAGAGCTCCTG
AGAAATCGAGACATATATTTTAAGTTAGTGAATGCACAGTCAGTGCAGTGA

Protein Sequence    (SEQ ID NO:1060):
TIVVAHRLSTIRSADLIVTLKDGMLAEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAEESTQSKEISLPE
VSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQGLFYGRAGEILTMRLRHLAFKA
MLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFLILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGK
IATEALENIRTIVSLTREKAFEQMYEEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEGMFIVFTAIAYGAMAIGKTLVLA
PEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVL
FDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPK
ILLLDEATSALDNDSEKVVQHALDKARTGRTCLVVTHRLSAIQNADLIVVLHNGKIKEQGTHQELLRNRDIYFKLVNAQSVQ


SNP Information

Context             (SEQ ID NO:6275):
ATGCTGGAAAGATAGCAACTGAAGCTTTGGAGAATATACGTACTATAGTGTCATTAACAAGGGAAAAAGCCTTCGAGCAAATGTATGAAGAGATGCTTCA
K
ACTCAACACAGAAATACCTCGAAGAAAGCACAGATTATTGGAAGCTGTTATGCATTCAGCCATGCCTTTATATATTTTGCCTATGCGGCAGGGTTTCGAT
Celera SNP ID:            hCV25750368
SNP Position Transcript:  992
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,3)   caucasian(G,36)   total(G,67|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 330, (Q,CAG)   (H,CAT)   



Context             (SEQ ID NO:6276):
GCACAGCTTTCTGGCGGCCAGAAACAAAGACTAGCTATTGCAAGGGCTCTTCTCCAAAAACCCAAAATTTTATTGTTGGATGAGGCCACTTCAGCCCTCG
R
TAATGACAGTGAGAAGGTGGTTCAGCATGCCCTTGATAAAGCCAGGACGGGAAGGACATGCCTAGTGGTCACTCACAGGCTCTCTGCAATTCAGAACGCA
Celera SNP ID:            hCV25621063
SNP Position Transcript:  1837
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 612, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:6277):
TTCCCAAATAGCAATCGTTCCTCAAGAGCCTGTGCTCTTCAACTGCAGCATTGCTGAGAACATCGCCTATGGTGACAACAGCCGTGTGGTGCCATTAGAT
R
AGATCAAAGAAGCCGCAAATGCAGCAAATATCCATTCTTTTATTGAAGGTCTCCCTGAGAAATACAACACACAAGTTGGACTGAAAGGAGCACAGCTTTC
Celera SNP ID:            hCV25621064
SNP Position Transcript:  1647
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 549, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:6278):
GTTCAACTTCTGCAGAGACTTTATGACCCCGTGCAAGGACAAGTGCTGTTTGATGGTGTGGATGCAAAAGAATTGAATGTACAGTGGCTCCGTTCCCAAA
Y
AGCAATCGTTCCTCAAGAGCCTGTGCTCTTCAACTGCAGCATTGCTGAGAACATCGCCTATGGTGACAACAGCCGTGTGGTGCCATTAGATGAGATCAAA
Celera SNP ID:            hCV25621065
SNP Position Transcript:  1555
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,1|T,37)   total(C,4|T,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 518, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:6279):
TTCTCCAAAAACCCAAAATTTTATTGTTGGATGAGGCCACTTCAGCCCTCGATAATGACAGTGAGAAGGTGGTTCAGCATGCCCTTGATAAAGCCAGGAC
R
GGAAGGACATGCCTAGTGGTCACTCACAGGCTCTCTGCAATTCAGAACGCAGATTTGATAGTGGTTCTGCACAATGGAAAGATAAAGGAACAAGGAACTC
Celera SNP ID:            hCV25750154
SNP Position Transcript:  1886
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,32)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1060, 628, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:6280):
GGAGAATATACGTACTATAGTGTCATTAACAAGGGAAAAAGCCTTCGAGCAAATGTATGAAGAGATGCTTCAGACTCAACACAGAAATACCTCGAAGAAA
R
CACAGATTATTGGAAGCTGTTATGCATTCAGCCATGCCTTTATATATTTTGCCTATGCGGCAGGGTTTCGATTTGGAGCCTATTTAATTCAAGCTGGACG
Celera SNP ID:            hCV25620999
SNP Position Transcript:  1020
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,22)   caucasian(G,30)   total(A,4|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 340, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:6281):
CTACAATCGTGGTAGCACACCGACTTTCTACTATTCGAAGTGCAGATTTGATTGTGACCCTAAAGGATGGAATGCTGGC
R
GAGAAAGGAGCACATGCTGAACTAATGGCAAAACGAGGTCTATATTATTCACTTGTGATGTCACAGGATATTAAAAAAGCTGATGAACAGATGGAGTCAA
Celera SNP ID:            hCV25621012
SNP Position Transcript:  80
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1060, 26, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:6282):
GTTTCGATTTGGAGCCTATTTAATTCAAGCTGGACGAATGACCCCAGAGGGCATGTTCATAGTTTTTACTGCAATTGCATATGGAGCTATGGCCATCGGA
R
AAACGCTCGTTTTGGCTCCTGAATATTCCAAAGCCAAATCGGGGGCTGCGCATCTGTTTGCCTTGTTGGAAAAGAAACCAAATATAGACAGCCGCAGTCA
Celera SNP ID:            hCV25621077
SNP Position Transcript:  1185
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,11)   caucasian(A,33|G,1)   total(A,60|G,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1060, 395, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:6283):
AAGAGATGCTTCAGACTCAACACAGAAATACCTCGAAGAAAGCACAGATTATTGGAAGCTGTTATGCATTCAGCCATGCCTTTATATATTTTGCCTATGC
R
GCAGGGTTTCGATTTGGAGCCTATTTAATTCAAGCTGGACGAATGACCCCAGAGGGCATGTTCATAGTTTTTACTGCAATTGCATATGGAGCTATGGCCA
Celera SNP ID:            hCV2631552
SNP Position Transcript:  1079
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,4)   caucasian(A,5|G,15)   total(A,15|G,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1060, 359, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,4)   total(G,4|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1060, 359, (A,GCA)   (A,GCG)      



Gene Number:                 133
Celera Gene:                 hCG2039266 - 209000071815194
Celera Transcript:           hCT2343913 - 209000071815195
Public Transcript Accession: 
Celera Protein:              hCP1909293 - 348492318
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VYHA(14913735..14965941)
Chromosome:                  Chr20
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:364):
CCGCTGGGCGTGCTCTTGCCCTGGCAGGGCTCCGCCGCGCTGGGCCGCTGCTGTCCTGGCCGTGACCCGATGTTTGTCGCCCGCGGGCCCCCGCGCTGCT
TCTGCGACCAAGCGTGCGGCGCGGCGCGGCGCGGGACTGCTGCGCAGACTATACGCGGGTCTGCCCAGGTGCACCCGGGGAAAGGTCTTGCTGTATTGCC
CAAGGCTGGAGGACAGTGATGCAATCATGGCTCCCTGCAGCCTTGATCTTCTGAGCTCAGTCCCTGCTTTGATAACCACASGCAGCTACGGGAAAGAGTG
GGAAAAGTGAGATAGTCCCAAGAAACAGGCAACAGCAGGATAGCATCAGCTCTAAAAATATCTGAATTGGAAATCACAACTATTTACTTTTATCAAAAAG
CATTTGTTTTTTTCCCTGAATTTTCACATTTGTGCTGATGGTGGACATTAATGGTGATGAAAACAAAGAAGAGACATGTGAGATGGTCGG

Protein Sequence    (SEQ ID NO:1061):
RWACSCPGRAPPRWAAAVLAVTRCLSPAGPRAASATKRAARRGAGLLRRLYAGLPRCTRGKVLLYCPRLEDSDAIMAPCSLDLLSSVPALITTGSYGKEW
EK


SNP Information

Context             (SEQ ID NO:6284):
AAAGGTCTTGCTGTATTGCCCAAGGCTGGAGGACAGTGATGCAATCATGGCTCCCTGCAGCCTTGATCTTCTGAGCTCAGTCCCTGCTTTGATAACCACA
S
GCAGCTACGGGAAAGAGTGGGAAAAGTGAGATAGTCCCAAGAAACAGGCAACAGCAGGATAGCATCAGCTCTAAAAATATCTGAATTGGAAATCACAACT
Celera SNP ID:            hCV25988879
SNP Position Transcript:  281
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,17)   caucasian(C,3|G,21)   total(C,6|G,38)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1061, 94, (R,CGC)   (G,GGC)   



Gene Number:                 134
Celera Gene:                 hCG2039416 - 208000027133940
Celera Transcript:           hCT2262682 - 208000027133830
Public Transcript Accession: NM_000651
Celera Protein:              hCP1799458 - 208000027133884
Public Protein Accession:    NP_000642
Gene Symbol:                 CR1
Protein Name:                complement component (3b/4b) receptor 1, including Knops blood group system;C3BR;CD35
Celera Genomic Axis:         GA_x5YUV32W3HS(16200964..16326899)
Chromosome:                  Chr1
OMIM number:                 120620
OMIM Information:            COMPLEMENT COMPONENT RECEPTOR 1;CR1


Transcript Sequence (SEQ ID NO:365):
ACACTCTGGGCGCGGAGCACAATGATTGGTCACTCCTATTTTCGCTGAGCTTTTCCTCTTATTTCAGTTTTCTTCGAGATCAAATCTGGTTTGTAGATGT
GCTTGGGGAGAATGGGGGCCTCTTCTCCAAGAAGCCCGGAGCCTGTCGGGCCGCCGGCGCCCGGTCTCCCCTTCTGCTGCGGAGGATCCCTGCTGGCGGT
YGTGGTGCTGCTYGCGCTGCCGGTGGCCTGGGGTCAATGCAATGCCCCAGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGARTTTGAGTTT
CCCATTGGGACATATCTGAACTATGAATGCCGCCCTGGTTATTCCGGAAGACCGTTTTCTATCATCTGCCTAAAAAACTCAGTCTGGACTGGTGCTAAGG
ACAGGTGCAGACGTAAATCATGTYGTAATCCTCCAGATCCTGTGAATGGCATGGTGCATGTGATCAAAGGCATCCAGTTCGGATCCCAAATTAAATATTC
TTGTACTAAAGGATACCGACTCATTGGTTCCTCGTCTGCCACATGCATCATCTCAGGTGATACTGTCATTTGGGATAATGAAACACCTATTTGTGACAGA
ATTCCTTGTGGGCTACCCCCCACCATCACCAATGGAGATTTCATTAGCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGCAATC
CTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGACRATCAAGTGGGCATCTGGAGCGGCCCCGCCCC
TCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAG
TTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCGCCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGGGTAT
GTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACCYGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGCTA
CGACCTCAGAGGGGCTGCGTCTATGCGCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCACATGTGAAGTGAAATCCTGTGATGACTTCATGGGC
CAACTTCTTAATGGCCGTGTGCTATTTCCAGTAAATCTCCAGCTTGGAGCAAAAGTGGATTTTGTTTGTGATGAAGGATTTCAATTAAAAGGCAGCTCTG
CTAGTTACTGTGTCTTGGCTGGAATGGAAAGCCTTTGGAATAGCAGTGTTCCAGTGTGTGAACAAATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGG
GAGACACACAGGAAAACCTCTGGAAGTCTTTCCCTTTGGRAAARCAGTAAATTACACATGCGACCCCCACCCAGACAGAGGGACGAGCTTCGACCTCATT
GGAGAGAGCACCATCCGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGGAATTCTGGGTGGCACCGACTCATTGG
TCACTCATCTGCTGAATGTATCCTCTCGGGCAATGCTGCCCATTGGAGCACGAAGCCGCCAATTTGTCAACGAATTCCTTGTGGGCTACCCCCCACCATC
GCCAATGGAGATTTCATTAGCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGCAATCCTGGAAGCGGAGGGAGAAAGGTGTTTG
AGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCGGCCCCTCAGTGCATTAYACCTAACAAATGCAC
GCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTCATG
AAAGGACCCCGCCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGGGTATGTCAGCCACCTCCAGATGTCCTGCATG
CTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACCCGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGCG
CTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCACATGTGAAGTGAAATCCTGTGATGACTTCATGGGCCAACTTCTTAATGGCCGTGTGCTATTT
CCAGTAAATCTCCAGCTTGGAGCAAAAGTGGATTTTGTTTGTGATGAAGGATTTCAATTAAAAGGCAGCTCTGCTAGTTATTGTGTCTTGGCTGGAATGG
AAAGCCTTTGGAATAGCAGTGTTCCAGTGTGTGAACAAATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAAACCTCTGGAAGT
CTTTCCCTTTGGAAAAGCAGTAAATTACACATGCGACCCCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATCCGCTGCACAAGT
GACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGGAATTCTGGGTGGCACCGACTCATTGGTCACTCATCTGCTGAATGTATCCTCTC
AGGCAATACTGCCCATTGGAGCACGAAGCCGCCAATTTGTCAACGAATTCCTTGTGGGCTACCCCCAACCATCGCCAATGGAGATTTCATTAGCACCAAC
AGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGCAATCTTGGAAGCAGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTCCATATACT
GCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCCGCCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAATGGAATATT
GGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCRCCGTGTGAAGTGCCAG
GCCCTGAACAAATGGGAGCCAGAGTTACCAAGCTGCTCCAGGGTGTGTCAGCCGCCTCCAGAAATCCTGCATGGTGAGCRTACCCCAAGCCATCAGGACA
ACTTTTCACCTGGGCAGGAAGTGTTCTACAGCTGTGAGCCTGGCTATGACCTCAGAGGGGCTGCGTCTCTGCACTGCACACCCCAGGGAGACTGGAGCCC
TGAAGCCCCGAGATGTGCAGTGAAATCCTGTGATGACTTCTTGGGTCAACTCCCTCATGGCCGTGTGCTATTTCCACTTAATCTCCAGCTTGGGGCAAAG
GTGTCCTTTGTCTGTGATGAAGGGTTTCGCTTAAAGGGCAGTTCCGTTAGTCATTGTGTCTTGGTTGGAATGAGAAGCCTTTGGAATAACAGTGTTCCTG
TGTGTGAACATATCTTTTGTCCAAATCCTCCAGCTATCCTTAATGGGAGACACACAGGAACTCCCTCTGGAGATATTCCCTATGGAAAAGAAATATCTTA
CACATGTGACCCCCACCCAGACAGAGGGATGACCTTCAACCTCATTGGGGAGAGCACCATCCGCTGCACAAGTGACCCTCATGGGAATGGGGTTTGGAGC
AGCCCTGCCCCTCGCTGTGAACTTTCTGTTCGTGCTGGTCACTGTAAAACCCCAGAGCAGTTTCCATTTGCCAGTCCTWYGATCCCAATTAATGACTTTG
AGTTTCCAGTCGGGACATCTTTGAATTATGAATGCCGTCCTGGGTATTTTGGGAAAATGTTCTCTATCTCCTGCCTAGAAAACTTGGTCTGGTCAAGTGT
TGAAGACAACTGYAGACGAAAATCATGTGGACCTCCACCAGAACCCTTCAATGGAATGGTGCATATAAACACAGATACACAGTTTGGATCAACAGTTAAT
TATTCTTGTAATGAAGGGTTTCGACTCATTGGTTCCCCATCTACTACTTGTCTCGTCTCAGGCAATAATGTCACATGGGATAAGAAGGCACCTATTTGTG
AGATCATATCTTGTGAGCCACCTCCAACCATATCCAATGGAGACTTCTACAGCAACAATAGAACATCTTTTCACARTGGAACGGTGGTAACTTACCAGTG
CCACACTGGACCAGATGGAGAACAGCTGTTTGAGCTTRTGGGAGAACGGTCAATATATTGCACCAGCAAAGATGATCAAGTTGGTGTTTGGAGCAGCCCT
CCCCCTCGGTGTATTTCTACTAATRAATGCACAGCTCCAGAAGTTGAAAATGCAATTRGAGTACCAGGAAACAGGAGTTTCTTTWCCCTCACTGAGATCR
TCAGATTTAGATGTCAGCCCGGGTTTGTCATGGTAGGGTCCCACACTGTGCAGTGCCAGACCAATGGCAGATGGGGGCCCAAGCTGCCACACTGCTCCAG
GGTGTGTCAGCCGCCTCCAGAAATCCTGCATGGTGAGCATACCCTAAGCCATCAGGACAACTTTTCACCTGGGCAGGAAGTGTTCTACAGCTGTGAGCCC
AGCTATGACCTCAGAGGGGCTGCGTCTCTGCACTGCACGCCCCAGGGAGACTGGAGCCCTGAAGCCCCTAGATGTACAGTGAAATCCTGTGATGACTTCC
TGGGCCAACTCCCTCATGGCCGTGTGCTACTTCCACTTAATCTCCAGCTTGGGGCAAAGGTGTCCTTTGTTTGCGATGAAGGGTTCCGATTAAAAGGCAG
GTCTGCTAGTCATTGTGTCTTGGCTGGAATGAAAGCCCTTTGGAATAGCAGTGTTCCAGTGTGTGAACAAATCTTTTGTCCAAATCCTCCAGCTATCCTT
AATGGGAGACACACAGGAACTCCCTTTGGAGATATTCCCTATGGAAAAGAAATATCTTACGCATGCGACACCCACCCAGACAGAGGGATGACCTTCAACC
TCATTGGGGAGAGCTCCATCCGCTGCACAAGTGACCSTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAACTTTCTGTTCCTGCTGCCTG
CCCACATCCACCCARGATCCAAAACGGGCATTACATTGGAGGACACGTATCTCTATATCTTCCTGGGATGACAATCAGCTACATTTGTGACCCCGGCTAC
CTGTTAGTGGGAAAGRGCTTCATTTTCTGTACAGACCAGGGAATCTGGAGCCAATTGGATCATTATTGCAAAGAAGTAAATTGTAGCTTCCCACTGTTTA
TGAATGGAATCTCGAAGGAGTTAGAAATGAAAAAAGTATATCACTATGGAGATTATGTGACTTTGAAGTGTGAAGATGGGTATACTCTGGAAGGCAGTCC
CTGGAGCCAGTGCCAGGCGGATGACAGATGGGACCCTCCTCTGGCCAAATGTACCTCTCGTRCACATGATGCTCTCATAGTTGGCACTTTATCTGGTACG
ATCTTCTTTATTTTACTCATCATTTTCCTCTCTTGGATAATTCTAAAGCACAGAAAAGGCAATAATGCACATGAAAACCCTAAAGAAGTGGCTATCCATT
TACATTCTCAAGGAGGCAGCAGCGTTCATCCCCGAACTCTGCAAACAAATGAAGAAAATAGCAGGGTCCTTCCTTGACAAAGTACTATACAGCTGAAGAA
CATCTCGAATAYARTTTTGGTGGGAAAGGAGCCAATTGATTTCAACAGAATCAGATCTGAGCTTCATAAAGTCTTTGAAGTGACTTCACAGAGACGCAGA
CATGTGCACTTGAAGATGCTGCCCCTTCCCYGGTACCTAGCAAAGCTCCTGCCTCTTTGTGTGCGTCACTGTGAAACCCCYACCCTTCTGCCTCGTGCTA
AACGCACACAGTATCTAGTCAGGGGAAAAGACTGCATTTAGGAGATAGAAAATAGTTTGGATTACTTAAAGGAATAAGGTGTTGCCTGGAATTTCTGGTT
TGTAAGGTGGTCACTGTTCTTTTTTAAAATATTTGTAATATGGAATGGGCTCAGTAAGAAGAGCTTGGAAAATGCAGAAAGTTATGAAAAATAAGTCACT
TATAATTATGCTACCTACTGATAACCACTCCTAATATTTTGATTCATTTTCTGCCTATCTTCTTTCACATATGTGTTTTTTTACATACGTACTTTTCCCC
CTTAGTTTGTTTCCTTTTATTTTATAGAGCAGAACCCTAGTCTTTTAAACAGTTTAGAGTGAAATATATGCTATATCAGTTTTTACTTTCTCTAGGGAGA
AAAATTAATTTACTAGAAAGGCATGAAATGATCATGGGAAGAGTGGTTAAGACTACTGAAGAGAAATATTTGGAAAATAAGATTTCGATATCTTCTTTTT
TTTTGAGATGGAGTCTGGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTGACACCATTTTCCTGC
CTCAGCCTCCTGAGTAGTTGGGAYTACCAGTAGATGGGACTACAGGCACCTGCCAACACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT
CACCATGTTAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCYGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGAGCCACCGCGCCTGG
CCGCTTTCGATATTTTCTAAACTTTAATTCAAAAGCACTTTGTGCTGTGTTCTATATAAAAAACATAATAAAAATTGAAATGAAAGAATAATTGTTATTA
TAAAAGTACTAGCTTACTTTTGTATGGATTCAGAATATACTAAATTAACTTTTTAAAACACAACTTTTAAAAAATGTATCAAAATAATAAACGTGTTCTG
ATATTTTTA

Protein Sequence    (SEQ ID NO:1062):
MKGPRRVKCQALNKWEPELPSCSRVCQPPPEILHGEHTPSHQDNFSPGQEVFYSCEPGYDLRGAASLHCTPQGDWSPEAPRCAVKSCDDFLGQLPHGRVL
FPLNLQLGAKVSFVCDEGFRLKGSSVSHCVLVGMRSLWNNSVPVCEHIFCPNPPAILNGRHTGTPSGDIPYGKEISYTCDPHPDRGMTFNLIGESTIRCT
SDPHGNGVWSSPAPRCELSVRAGHCKTPEQFPFASPTIPINDFEFPVGTSLNYECRPGYFGKMFSISCLENLVWSSVEDNCRRKSCGPPPEPFNGMVHIN
TDTQFGSTVNYSCNEGFRLIGSPSTTCLVSGNNVTWDKKAPICEIISCEPPPTISNGDFYSNNRTSFHNGTVVTYQCHTGPDGEQLFELVGERSIYCTSK
DDQVGVWSSPPPRCISTNKCTAPEVENAIRVPGNRSFFTLTEIIRFRCQPGFVMVGSHTVQCQTNGRWGPKLPHCSRVCQPPPEILHGEHTLSHQDNFSP
GQEVFYSCEPSYDLRGAASLHCTPQGDWSPEAPRCTVKSCDDFLGQLPHGRVLLPLNLQLGAKVSFVCDEGFRLKGRSASHCVLAGMKALWNSSVPVCEQ
IFCPNPPAILNGRHTGTPFGDIPYGKEISYACDTHPDRGMTFNLIGESSIRCTSDPQGNGVWSSPAPRCELSVPAACPHPPKIQNGHYIGGHVSLYLPGM
TISYICDPGYLLVGKGFIFCTDQGIWSQLDHYCKEVNCSFPLFMNGISKELEMKKVYHYGDYVTLKCEDGYTLEGSPWSQCQADDRWDPPLAKCTSRAHD
ALIVGTLSGTIFFILLIIFLSWIILKHRKGNNAHENPKEVAIHLHSQGGSSVHPRTLQTNEENSRVLP


SNP Information

Context             (SEQ ID NO:6285):
TCCCCCTCGGTGTATTTCTACTAATAAATGCACAGCTCCAGAAGTTGAAAATGCAATTAGAGTACCAGGAAACAGGAGTTTCTTTACCCTCACTGAGATC
R
TCAGATTTAGATGTCAGCCCGGGTTTGTCATGGTAGGGTCCCACACTGTGCAGTGCCAGACCAATGGCAGATGGGGGCCCAAGCTGCCACACTGCTCCAG
Celera SNP ID:            hCV25472615
SNP Position Transcript:  4400
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,3)   caucasian(A,1|G,3)   total(A,4|G,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 444, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,19)   caucasian(A,15|G,13)   total(A,22|G,32)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 444, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,23|G,15)   total(A,34|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 444, (I,ATC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,24|G,16)   total(A,35|G,43)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 444, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:6286):
TTGCACCAGCAAAGATGATCAAGTTGGTGTTTGGAGCAGCCCTCCCCCTCGGTGTATTTCTACTAATAAATGCACAGCTCCAGAAGTTGAAAATGCAATT
R
GAGTACCAGGAAACAGGAGTTTCTTTACCCTCACTGAGATCATCAGATTTAGATGTCAGCCCGGGTTTGTCATGGTAGGGTCCCACACTGTGCAGTGCCA
Celera SNP ID:            hCV25473166
SNP Position Transcript:  4358
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,20)   caucasian(A,39|G,1)   total(A,57|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 430, (R,AGA)   (G,GGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,20)   caucasian(A,37|G,1)   total(A,55|G,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 430, (R,AGA)   (G,GGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,19)   caucasian(A,39|G,1)   total(A,56|G,20)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 430, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:6287):
CCTGCCAACACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACC
Y
GCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGAGCCACCGCGCCTGGCCGCTTTCGATATTTTCTAAACTTTAATTCAAAAGCACTTTGTGCTGTG
Celera SNP ID:            hCV29297892
SNP Position Transcript:  6649
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6288):
GGACATCTTTGAATTATGAATGCCGTCCTGGGTATTTTGGGAAAATGTTCTCTATCTCCTGCCTAGAAAACTTGGTCTGGTCAAGTGTTGAAGACAACTG
Y
AGACGAAAATCATGTGGACCTCCACCAGAACCCTTCAATGGAATGGTGCATATAAACACAGATACACAGTTTGGATCAACAGTTAATTATTCTTGTAATG
Celera SNP ID:            hCV25598601
SNP Position Transcript:  3913
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,35)   total(C,1|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1062, 281, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:6289):
TCTCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTGACACCATTTTCCTGCCTCAGCCTCCTGAGTAGTTGGGA
Y
TACCAGTAGATGGGACTACAGGCACCTGCCAACACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTG
Celera SNP ID:            hCV29297893
SNP Position Transcript:  6524
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6290):
AGGCAGCAGCGTTCATCCCCGAACTCTGCAAACAAATGAAGAAAATAGCAGGGTCCTTCCTTGACAAAGTACTATACAGCTGAAGAACATCTCGAATACA
R
TTTTGGTGGGAAAGGAGCCAATTGATTTCAACAGAATCAGATCTGAGCTTCATAAAGTCTTTGAAGTGACTTCACAGAGACGCAGACATGTGCACTTGAA
Celera SNP ID:            hCV25598612
SNP Position Transcript:  5714
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,35|G,3)   total(A,72|G,4)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None



Context             (SEQ ID NO:6291):
TCATGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAACTTTCTGTTCGTGCTGGTCACTGTAAAACCCCAGAGCAGTTTCCATTTGCCAGTCCT
W
CGATCCCAATTAATGACTTTGAGTTTCCAGTCGGGACATCTTTGAATTATGAATGCCGTCCTGGGTATTTTGGGAAAATGTTCTCTATCTCCTGCCTAGA
Celera SNP ID:            hCV25598605
SNP Position Transcript:  3779
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,34)   total(A,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 237, (T,ACG)   (S,TCG)   



Context             (SEQ ID NO:6292):
GGAGGCAGCAGCGTTCATCCCCGAACTCTGCAAACAAATGAAGAAAATAGCAGGGTCCTTCCTTGACAAAGTACTATACAGCTGAAGAACATCTCGAATA
Y
AATTTTGGTGGGAAAGGAGCCAATTGATTTCAACAGAATCAGATCTGAGCTTCATAAAGTCTTTGAAGTGACTTCACAGAGACGCAGACATGTGCACTTG
Celera SNP ID:            hCV25598613
SNP Position Transcript:  5712
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None



Context             (SEQ ID NO:6293):
TGCTGGCGGTTGTGGTGCTGCTTGCGCTGCCGGTGGCCTGGGGTCAATGCAATGCCCCAGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGA
R
TTTGAGTTTCCCATTGGGACATATCTGAACTATGAATGCCGCCCTGGTTATTCCGGAAGACCGTTTTCTATCATCTGCCTAAAAAACTCAGTCTGGACTG
Celera SNP ID:            hCV25473642
SNP Position Transcript:  291
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,8|G,32)   total(A,9|G,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6294):
ATAGCAGTGTTCCAGTGTGTGAACAAATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAAACCTCTGGAAGTCTTTCCCTTTGG
R
AAAACAGTAAATTACACATGCGACCCCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATCCGCTGCACAAGTGACCCTCAAGGGA
Celera SNP ID:            hCV28027009
SNP Position Transcript:  1440
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6295):
TGACTTCACAGAGACGCAGACATGTGCACTTGAAGATGCTGCCCCTTCCCTGGTACCTAGCAAAGCTCCTGCCTCTTTGTGTGCGTCACTGTGAAACCCC
Y
ACCCTTCTGCCTCGTGCTAAACGCACACAGTATCTAGTCAGGGGAAAAGACTGCATTTAGGAGATAGAAAATAGTTTGGATTACTTAAAGGAATAAGGTG
Celera SNP ID:            hCV25598614
SNP Position Transcript:  5881
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None



Context             (SEQ ID NO:6296):
GTGGAAAATGGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCC
R
CCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCAGAGTTACCAAGCTGCTCCAGGGTGTGTCAGCCGCCTCCAGAAATCCTGCATGGTGAGCATACC
Celera SNP ID:            hCV25598607
SNP Position Transcript:  3084
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 5, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:6297):
GATCCAAAACGGGCATTACATTGGAGGACACGTATCTCTATATCTTCCTGGGATGACAATCAGCTACATTTGTGACCCCGGCTACCTGTTAGTGGGAAAG
R
GCTTCATTTTCTGTACAGACCAGGGAATCTGGAGCCAATTGGATCATTATTGCAAAGAAGTAAATTGTAGCTTCCCACTGTTTATGAATGGAATCTCGAA
Celera SNP ID:            hCV25596012
SNP Position Transcript:  5216
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,36)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 716, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6298):
CCCTATGGAAAAGAAATATCTTACGCATGCGACACCCACCCAGACAGAGGGATGACCTTCAACCTCATTGGGGAGAGCTCCATCCGCTGCACAAGTGACC
S
TCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAACTTTCTGTTCCTGCTGCCTGCCCACATCCACCCAAGATCCAAAACGGGCATTACATT
Celera SNP ID:            hCV25596020
SNP Position Transcript:  5037
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,5)   caucasian(C,21|G,15)   total(C,54|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 656, (P,CCT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,6)      total(G,1|C,6) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 656, (P,CCT)   (R,CGT)      



Context             (SEQ ID NO:6299):
GGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCGGCCCCTCAGTGCATTA
Y
ACCTAACAAATGCACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAG
Celera SNP ID:            hCV26592878
SNP Position Transcript:  1885
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,6)   total(C,6|T,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6300):
TGGGGGCCTCTTCTCCAAGAAGCCCGGAGCCTGTCGGGCCGCCGGCGCCCGGTCTCCCCTTCTGCTGCGGAGGATCCCTGCTGGCGGTTGTGGTGCTGCT
Y
GCGCTGCCGGTGGCCTGGGGTCAATGCAATGCCCCAGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGAGTTTGAGTTTCCCATTGGGACAT
Celera SNP ID:            hCV26228320
SNP Position Transcript:  213
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6301):
AATGGGAGCCGGAGCTACCAAGCTGCTCCAGGGTATGTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACC
Y
GGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGCGCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCA
Celera SNP ID:            hCV26971918
SNP Position Transcript:  1065
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6302):
CATGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAACTTTCTGTTCGTGCTGGTCACTGTAAAACCCCAGAGCAGTTTCCATTTGCCAGTCCTA
Y
GATCCCAATTAATGACTTTGAGTTTCCAGTCGGGACATCTTTGAATTATGAATGCCGTCCTGGGTATTTTGGGAAAATGTTCTCTATCTCCTGCCTAGAA
Celera SNP ID:            hCV25472944
SNP Position Transcript:  3780
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,28|T,6)   total(C,63|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 237, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(T,2)   total(C,10|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 237, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   JBIC-allele(T,565|C,930)   total(C,930|T,565)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 237, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:6303):
GCTTGGGGAGAATGGGGGCCTCTTCTCCAAGAAGCCCGGAGCCTGTCGGGCCGCCGGCGCCCGGTCTCCCCTTCTGCTGCGGAGGATCCCTGCTGGCGGT
Y
GTGGTGCTGCTTGCGCTGCCGGTGGCCTGGGGTCAATGCAATGCCCCAGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGAGTTTGAGTTTC
Celera SNP ID:            hCV26228321
SNP Position Transcript:  201
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6304):
CAGTGTTCCAGTGTGTGAACAAATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAAACCTCTGGAAGTCTTTCCCTTTGGGAAA
R
CAGTAAATTACACATGCGACCCCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATCCGCTGCACAAGTGACCCTCAAGGGAATGG
Celera SNP ID:            hCV26971919
SNP Position Transcript:  1444
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,2)      total(G,2|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6305):
TCCATCCGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAACTTTCTGTTCCTGCTGCCTGCCCACATCCACCCA
R
GATCCAAAACGGGCATTACATTGGAGGACACGTATCTCTATATCTTCCTGGGATGACAATCAGCTACATTTGTGACCCCGGCTACCTGTTAGTGGGAAAG
Celera SNP ID:            hCV25596019
SNP Position Transcript:  5115
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,35|G,1)   total(A,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 682, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:6306):
GCTGTTTGAGCTTGTGGGAGAACGGTCAATATATTGCACCAGCAAAGATGATCAAGTTGGTGTTTGGAGCAGCCCTCCCCCTCGGTGTATTTCTACTAAT
R
AATGCACAGCTCCAGAAGTTGAAAATGCAATTAGAGTACCAGGAAACAGGAGTTTCTTTACCCTCACTGAGATCATCAGATTTAGATGTCAGCCCGGGTT
Celera SNP ID:            hCV25598593
SNP Position Transcript:  4325
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,40)   total(A,71|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 419, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,40)   total(A,71|G,7)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 419, (K,AAA)   (E,GAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,38)   total(A,69|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 419, (K,AAA)   (E,GAA)   



Context             (SEQ ID NO:6307):
CTATGGATCAGTGGTGACCTACCGCTGCAATCCTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGAC
R
ATCAAGTGGGCATCTGGAGCGGCCCCGCCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAG
Celera SNP ID:            hCV25652302
SNP Position Transcript:  769
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None



Context             (SEQ ID NO:6308):
TGGAGACTTCTACAGCAACAATAGAACATCTTTTCACAATGGAACGGTGGTAACTTACCAGTGCCACACTGGACCAGATGGAGAACAGCTGTTTGAGCTT
R
TGGGAGAACGGTCAATATATTGCACCAGCAAAGATGATCAAGTTGGTGTTTGGAGCAGCCCTCCCCCTCGGTGTATTTCTACTAATAAATGCACAGCTCC
Celera SNP ID:            hCV25598594
SNP Position Transcript:  4238
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 390, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 390, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:6309):
TGGGATAAGAAGGCACCTATTTGTGAGATCATATCTTGTGAGCCACCTCCAACCATATCCAATGGAGACTTCTACAGCAACAATAGAACATCTTTTCACA
R
TGGAACGGTGGTAACTTACCAGTGCCACACTGGACCAGATGGAGAACAGCTGTTTGAGCTTGTGGGAGAACGGTCAATATATTGCACCAGCAAAGATGAT
Celera SNP ID:            hCV25598595
SNP Position Transcript:  4176
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,37|G,3)   total(A,74|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 369, (N,AAT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,35|G,3)   total(A,64|G,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 369, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:6310):
TGTTTGGAGCAGCCCTCCCCCTCGGTGTATTTCTACTAATAAATGCACAGCTCCAGAAGTTGAAAATGCAATTAGAGTACCAGGAAACAGGAGTTTCTTT
W
CCCTCACTGAGATCATCAGATTTAGATGTCAGCCCGGGTTTGTCATGGTAGGGTCCCACACTGTGCAGTGCCAGACCAATGGCAGATGGGGGCCCAAGCT
Celera SNP ID:            hCV25598589
SNP Position Transcript:  4385
SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(A,1|T,39)   total(A,1|T,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 439, (T,ACC)   (S,TCC)   

SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,1|T,39)   total(A,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 439, (T,ACC)   (S,TCC)   

SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,1|T,39)   total(A,1|T,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 439, (T,ACC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 439, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:6311):
CCCCGCCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCAGAGTTACCAAGCTGCTCCAGGGTGTGTCAGCCGCCTCCAGAAATCCTGCATGGTGAGC
R
TACCCCAAGCCATCAGGACAACTTTTCACCTGGGCAGGAAGTGTTCTACAGCTGTGAGCCTGGCTATGACCTCAGAGGGGCTGCGTCTCTGCACTGCACA
Celera SNP ID:            hCV12080027
SNP Position Transcript:  3180
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,7)   caucasian(A,26|G,14)   total(A,55|G,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 37, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 37, (H,CAT)   (R,CGT)      37, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:6312):
GCCAATTGATTTCAACAGAATCAGATCTGAGCTTCATAAAGTCTTTGAAGTGACTTCACAGAGACGCAGACATGTGCACTTGAAGATGCTGCCCCTTCCC
Y
GGTACCTAGCAAAGCTCCTGCCTCTTTGTGTGCGTCACTGTGAAACCCCCACCCTTCTGCCTCGTGCTAAACGCACACAGTATCTAGTCAGGGGAAAAGA
Celera SNP ID:            hCV25598866
SNP Position Transcript:  5831
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(T,40)   total(C,5|T,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1062, None



Context             (SEQ ID NO:6313):
TGAATGCCGCCCTGGTTATTCCGGAAGACCGTTTTCTATCATCTGCCTAAAAAACTCAGTCTGGACTGGTGCTAAGGACAGGTGCAGACGTAAATCATGT
Y
GTAATCCTCCAGATCCTGTGAATGGCATGGTGCATGTGATCAAAGGCATCCAGTTCGGATCCCAAATTAAATATTCTTGTACTAAAGGATACCGACTCAT
Celera SNP ID:            hCV26228464
SNP Position Transcript:  424
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,2)   total(C,2|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1062, None   



Context             (SEQ ID NO:6314):
TTTGAAGTGTGAAGATGGGTATACTCTGGAAGGCAGTCCCTGGAGCCAGTGCCAGGCGGATGACAGATGGGACCCTCCTCTGGCCAAATGTACCTCTCGT
R
CACATGATGCTCTCATAGTTGGCACTTTATCTGGTACGATCTTCTTTATTTTACTCATCATTTTCCTCTCTTGGATAATTCTAAAGCACAGAAAAGGCAA
Celera SNP ID:            hCV25474315
SNP Position Transcript:  5462
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,7|G,33)   total(A,15|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 798, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(A,574|G,919)   total(G,919|A,574) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1062, 798, (A,GCA)   (T,ACA)      798, (T,ACA)   (A,GCA)      



Gene Number:                 135
Celera Gene:                 hCG2039466 - 208000027180700
Celera Transcript:           hCT2344193 - 208000027180692
Public Transcript Accession: NM_173532
Celera Protein:              hCP1909490 - 208000027180689
Public Protein Accession:    NP_775803
Gene Symbol:                 FLJ35838
Protein Name:                hypothetical protein FLJ35838
Celera Genomic Axis:         GA_x5YUV32VTKB(243879..273388)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:366):
GTCAGCAGCTACTGACTTAGTTCAATAGGCAGATTCAAAGGGGAAAAAAATGAAATAGTAATGGGATCTGCCTCCAGCCTCTAAATTCTATTTAGAGTTG
TTTTGTGGTAGATTTGGGTGCTGGGAAATGATTTGTGTGGAGAAATACTTGTATGGATTGAAAGACTGCTCACGTTAGATGTAAAAATGTTGTGATTAAT
TTATTACCGCTTTTATTCATGTTTTACGTTTGTTCAAGTTGTGTTTTTCTGTGTGGTTCTAATTTTCCAAACTTTCCTTTTCAGGTTGCTTCAGCAAAAT
CAGCTCCTGAAATACCCACTATTGATCAGGCATATTCAAAACTCAGCAACAGTATCACTGTAGAATGGGCTACAGTGCCGGGTGCCACCAGTTACCTCCT
CACGGCTGAAGACGGGGACACAGTCATTGAAACCACGGTGGCCAATTCCCCAGGCACTGTGACGGGACTAAAGGCTGCAACCTGGTATGAAATCACCATC
AGATCCATCAGCGCTGCTGGGAGAAGCCAGGCGTCACCTCCAAAGCAGGCAAAGACAGTGTTGGCTGCACCAATTCTAGAAGTAAGCTCTCCAAGTTCAG
ACTCCATTCTTGTGCAGTGGGAAGCTGTATATATGGCAATTGCATTCTCYGTGTCCRTTATGCGAGCCAATGGCTTGGGGARTATATGGAAAGAGAATAC
TACAAACACCTCCTTGACATTCACCAGTTTAGAAGCCGGAACTCTCTACACCATAAAGGCCTATGCATGGAATGCCAACAGAATCCCTGGGGATGACTCC
ACCTGCAATCAGAGAACAAGTCCTCGGGCCCCTGCCAACATTCAAGTCTCTTTCGATAGTGGAGCTCTGAAGGCATCTTTTTCCTGGGCACKGGCAGAAG
GAGCTTTCAATTATACTGTGATGGCTTTGAGCGACTCTTCAGAGCTGACCTGCAGTACAACTTTCAGTTCCTGCACCATCTCTTCCCTCCAGTGTGGAAC
TGAATACTTGATTTCAGTTTTAGCAAGTAATGATGCTGGATCTAGCAAATCATCTTCAGCAATGACCCTGAAAACTGTTGCTTGTGCACCCGGAAGAGTG
ACGATCCAAGAAGATCCCCCTGGCCACCTGTCTGTGGCTTGGTCCARTGTAGATCTGGGTGACTACTATGTGGTCTTTGTGAAGAGTGATGATGGCTTGG
AAGTACACTGCAACACATCTCTCACTCAGTGCAACTTCTTATCTGAGTGTGGCTTCACTTATTTTATTAGTGTTTTTGYCTATAACAAGGCAGGGCAAAG
TCCTTTGGGTGACATATTCARTTATACCACAGCTCCCTGTTGTCCTAGTGACATTAACCCCGTGTTGGTGTCCAGTGACAGAGTTGAGATTGTCTGGTCT
CCTGTCCGTGGTGCCGAACTGTATGAAACCAAGGCTGTAGATGGGTACAACATGGTTGAGTGCAAYGACACTACTCCTGCGTGCACCCTTTCGGCTCTAG
AGTGTGACACCAAGTACAACATCACAGTGTATTCATTCAATGAAGTCCGAGGCAGCAATATGTCATGTACTCCSCAGTTCATAACCACAGCTCCTTGCAG
TCCTGAAATAAAAAATGTTTCAAGGGATGCATTCTCCATGATTAATGTGCACTGGCGATCCACTAATGATGATGCTACTTACACRGTGACTGCCCAAGGG
GAGAAAGGACTGTATCAGTGCAGCAGCACAGGAGAGTCCTGCACCATGCGGGGCTTGCCCTGTGGCTCAGTGTTCTCTGTCACTGCTGTGGCCGAAACAC
AGGCAGGACGGAGCCTGCCCAGCTACAGTGTGCCCCTGGAAACAGTGCCATGCTGTCCAACCGGTCTGACAGTAACTCAAATCACCCAGTCAGTAATCAA
CGTGAGCTGGACTATTGGGAGAGTGGCTCAAACCCATGTTGCAGTTCTGGAGTCACACACTGGACAGTCTAAGTGTCACACTCATCAAAACCACTGCCTC
CTAGGRTGCATCACATGTGGCATCAATTACACAGTGACATTAAAAGCAATTAGTGCCACCGGGTTGACTGCAGATTGCTCCTACCAAAGTTATTTCTCTG
GTGCCTGCTGCCCTTTGGGGGTGAAATTATATAGGCTGGGCCCTAATGGCATCCGGATCTACTGGCAAGCCTCCAGGGGCTCTGCCAATTACAGCACTGA
CCTCTATGGCTCCAAAGGCATTTTCACGTGCACCCCGAGTGCTGGCCTCAGTTTCTGTGATGTCACTGAGATACYCTGTGGGGATGTATACACTGTGATG
GTCTCACCAGTTGCTAAAACAGGATTGAAGCTTACTTTCTGTCCAAAAAAAATATATTCAGTAACTTGCTCTGGAAGTACACTTGGAATGGTGATTTATA
GAGGGAAGAGAAATGAAGAATGACAAAGTGAGCCCCAGATAAAAACAAAAACTTGACCAAAGTTGTCTCATTTGTTAGTGATTAGAGATGGAAAAGATCT
ACTAGAATGTAGAATAAAAATGCCTCTAGGATAGGAAAAGCTCCTTTGGCCTTTAGAAGAACAACTCTGACTCTGCTTCCTGAGGGCAAGGTCAGGTGTG
TCCTCACCTGCACAGCAGTTGGAGATCTGCTATGTGAGGACTCTGGAGAGAAATGAATCCAGAAAGTCCCCTGGACGGCTGCTAGCCTGAGTTGGCACAC
TGTGAGAACCCTGGAAACAAGAAAGTTCTGCTTAGCAGAAATTCTGAGATTTCACATCCACACACACCACAGACTTCAACACATCCACTTCATGAGTGTT
TTACAACAGCACTTGTCTGCAGCCCCCTCAGGGGCTGGAAATGTTCACTCCCAGAAAGTCAAGCCACCCACATGCAGACAGCACTTATCCCAAGACAAAC
CTCCAGCAGGACTTCAGTATAGGTTGGAAAGCAGTAGCTGCCAGGGCAACCTGAGATAACAAACGCCCTCATCGCAAGTTAGGAGCAAAGCTGAGCTGCT
TGCAGGGTTCGCTGAGCCAAAGCATCAGGTGGCGTGACATCTATGGGAGCATCTGGGAAAGCAGAGCTGCCAGCCTGTTGCTAGAAGGGTTGCAGTTATG
CTTTCTGCATGAGAGAAGATGTCAAATGGAGAGCCTCAAACTGTGGCCGACTGACATGCGTGCATCTTTTGGGGGAGGACCATCCATCTTATTGGCCATA
TCCCCCACTCATATTGTAATTACTTTTTTCATCTTTGGAGGGGGAAGGCAATGAAATATAACATAAATCTCTCATACCT

Protein Sequence    (SEQ ID NO:1063):
MFYVCSSCVFLCGSNFPNFPFQVASAKSAPEIPTIDQAYSKLSNSITVEWATVPGATSYLLTAEDGDTVIETTVANSPGTVTGLKAATWYEITIRSISAA
GRSQASPPKQAKTVLAAPILEVSSPSSDSILVQWEAVYMAIAFSVSIMRANGLGSIWKENTTNTSLTFTSLEAGTLYTIKAYAWNANRIPGDDSTCNQRT
SPRAPANIQVSFDSGALKASFSWARAEGAFNYTVMALSDSSELTCSTTFSSCTISSLQCGTEYLISVLASNDAGSSKSSSAMTLKTVACAPGRVTIQEDP
PGHLSVAWSSVDLGDYYVVFVKSDDGLEVHCNTSLTQCNFLSECGFTYFISVFAYNKAGQSPLGDIFNYTTAPCCPSDINPVLVSSDRVEIVWSPVRGAE
LYETKAVDGYNMVECNDTTPACTLSALECDTKYNITVYSFNEVRGSNMSCTPQFITTAPCSPEIKNVSRDAFSMINVHWRSTNDDATYTVTAQGEKGLYQ
CSSTGESCTMRGLPCGSVFSVTAVAETQAGRSLPSYSVPLETVPCCPTGLTVTQITQSVINVSWTIGRVAQTHVAVLESHTGQSKCHTHQNHCLLGCITC
GINYTVTLKAISATGLTADCSYQSYFSGACCPLGVKLYRLGPNGIRIYWQASRGSANYSTDLYGSKGIFTCTPSAGLSFCDVTEIPCGDVYTVMVSPVAK
TGLKLTFCPKKIYSVTCSGSTLGMVIYRGKRNEE


SNP Information

Context             (SEQ ID NO:6315):
GCTGGACTATTGGGAGAGTGGCTCAAACCCATGTTGCAGTTCTGGAGTCACACACTGGACAGTCTAAGTGTCACACTCATCAAAACCACTGCCTCCTAGG
R
TGCATCACATGTGGCATCAATTACACAGTGACATTAAAAGCAATTAGTGCCACCGGGTTGACTGCAGATTGCTCCTACCAAAGTTATTTCTCTGGTGCCT
Celera SNP ID:            hCV1757973
SNP Position Transcript:  2006
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,9)      total(G,2|A,9) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1063, 596, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:6316):
GATGACTCCACCTGCAATCAGAGAACAAGTCCTCGGGCCCCTGCCAACATTCAAGTCTCTTTCGATAGTGGAGCTCTGAAGGCATCTTTTTCCTGGGCAC
K
GGCAGAAGGAGCTTTCAATTATACTGTGATGGCTTTGAGCGACTCTTCAGAGCTGACCTGCAGTACAACTTTCAGTTCCTGCACCATCTCTTCCCTCCAG
Celera SNP ID:            hCV26300004
SNP Position Transcript:  892
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,3)      total(G,3|T,2) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 225, (R,CGG)   (L,CTG)      



Context             (SEQ ID NO:6317):
GTGAAGAGTGATGATGGCTTGGAAGTACACTGCAACACATCTCTCACTCAGTGCAACTTCTTATCTGAGTGTGGCTTCACTTATTTTATTAGTGTTTTTG
Y
CTATAACAAGGCAGGGCAAAGTCCTTTGGGTGACATATTCAATTATACCACAGCTCCCTGTTGTCCTAGTGACATTAACCCCGTGTTGGTGTCCAGTGAC
Celera SNP ID:            hCV1757967
SNP Position Transcript:  1279
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,22|T,4)   total(C,51|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 354, (A,GCC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 354, (A,GCC)   (V,GTC)      354, (V,GTC)   (A,GCC)      



Context             (SEQ ID NO:6318):
GTAAGCTCTCCAAGTTCAGACTCCATTCTTGTGCAGTGGGAAGCTGTATATATGGCAATTGCATTCTCCGTGTCCATTATGCGAGCCAATGGCTTGGGGA
R
TATATGGAAAGAGAATACTACAAACACCTCCTTGACATTCACCAGTTTAGAAGCCGGAACTCTCTACACCATAAAGGCCTATGCATGGAATGCCAACAGA
Celera SNP ID:            hCV25997289
SNP Position Transcript:  682
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,27)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 155, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:6319):
AGTGTTGGCTGCACCAATTCTAGAAGTAAGCTCTCCAAGTTCAGACTCCATTCTTGTGCAGTGGGAAGCTGTATATATGGCAATTGCATTCTCCGTGTCC
R
TTATGCGAGCCAATGGCTTGGGGAGTATATGGAAAGAGAATACTACAAACACCTCCTTGACATTCACCAGTTTAGAAGCCGGAACTCTCTACACCATAAA
Celera SNP ID:            hCV25997335
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,27|G,1)   total(A,62|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 147, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:6320):
AAATCATCTTCAGCAATGACCCTGAAAACTGTTGCTTGTGCACCCGGAAGAGTGACGATCCAAGAAGATCCCCCTGGCCACCTGTCTGTGGCTTGGTCCA
R
TGTAGATCTGGGTGACTACTATGTGGTCTTTGTGAAGAGTGATGATGGCTTGGAAGTACACTGCAACACATCTCTCACTCAGTGCAACTTCTTATCTGAG
Celera SNP ID:            hCV25991715
SNP Position Transcript:  1147
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,24)   caucasian(A,6|G,24)   total(A,16|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 310, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:6321):
TGGTGTCCAGTGACAGAGTTGAGATTGTCTGGTCTCCTGTCCGTGGTGCCGAACTGTATGAAACCAAGGCTGTAGATGGGTACAACATGGTTGAGTGCAA
Y
GACACTACTCCTGCGTGCACCCTTTCGGCTCTAGAGTGTGACACCAAGTACAACATCACAGTGTATTCATTCAATGAAGTCCGAGGCAGCAATATGTCAT
Celera SNP ID:            hCV25998646
SNP Position Transcript:  1466
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,32)   caucasian(T,32)   total(C,4|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 416, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 416, (N,AAC)   (N,AAT)      416, (N,AAT)   (N,AAC)      



Context             (SEQ ID NO:6322):
AGGGGCTCTGCCAATTACAGCACTGACCTCTATGGCTCCAAAGGCATTTTCACGTGCACCCCGAGTGCTGGCCTCAGTTTCTGTGATGTCACTGAGATAC
Y
CTGTGGGGATGTATACACTGTGATGGTCTCACCAGTTGCTAAAACAGGATTGAAGCTTACTTTCTGTCCAAAAAAAATATATTCAGTAACTTGCTCTGGA
Celera SNP ID:            hCV8848171
SNP Position Transcript:  2275
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 686, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6323):
CTCACTCAGTGCAACTTCTTATCTGAGTGTGGCTTCACTTATTTTATTAGTGTTTTTGCCTATAACAAGGCAGGGCAAAGTCCTTTGGGTGACATATTCA
R
TTATACCACAGCTCCCTGTTGTCCTAGTGACATTAACCCCGTGTTGGTGTCCAGTGACAGAGTTGAGATTGTCTGGTCTCCTGTCCGTGGTGCCGAACTG
Celera SNP ID:            hCV15760205
SNP Position Transcript:  1321
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,34)   total(A,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 368, (N,AAT)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1063, 368, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:6324):
CTCCTGCGTGCACCCTTTCGGCTCTAGAGTGTGACACCAAGTACAACATCACAGTGTATTCATTCAATGAAGTCCGAGGCAGCAATATGTCATGTACTCC
S
CAGTTCATAACCACAGCTCCTTGCAGTCCTGAAATAAAAAATGTTTCAAGGGATGCATTCTCCATGATTAATGTGCACTGGCGATCCACTAATGATGATG
Celera SNP ID:            hCV25997891
SNP Position Transcript:  1574
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,32)   total(C,69|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1063, 452, (P,CCC)   (P,CCG)   



Context             (SEQ ID NO:6325):
CAAAGACAGTGTTGGCTGCACCAATTCTAGAAGTAAGCTCTCCAAGTTCAGACTCCATTCTTGTGCAGTGGGAAGCTGTATATATGGCAATTGCATTCTC
Y
GTGTCCATTATGCGAGCCAATGGCTTGGGGAGTATATGGAAAGAGAATACTACAAACACCTCCTTGACATTCACCAGTTTAGAAGCCGGAACTCTCTACA
Celera SNP ID:            hCV25997358
SNP Position Transcript:  650
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,25|T,1)   total(C,61|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1063, 144, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:6326):
CCACAGCTCCTTGCAGTCCTGAAATAAAAAATGTTTCAAGGGATGCATTCTCCATGATTAATGTGCACTGGCGATCCACTAATGATGATGCTACTTACAC
R
GTGACTGCCCAAGGGGAGAAAGGACTGTATCAGTGCAGCAGCACAGGAGAGTCCTGCACCATGCGGGGCTTGCCCTGTGGCTCAGTGTTCTCTGTCACTG
Celera SNP ID:            hCV1757971
SNP Position Transcript:  1685
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,11)   total(G,11|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1063, 489, (T,ACA)   (T,ACG)      



Gene Number:                 136
Celera Gene:                 hCG2039590 - 208000027311694
Celera Transcript:           hCT2344279 - 208000027311691
Public Transcript Accession: NM_145029
Celera Protein:              hCP1909576 - 208000027311686
Public Protein Accession:    NP_659466
Gene Symbol:                 C6orf136
Protein Name:                chromosome 6 open reading frame 136;Em:AB023049.8;MGC15854
Celera Genomic Axis:         GA_x5YUV32W6W6(3677645..3683308)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:367):
GTGCCCTGCAGCGCGTGGACAGGCTAGGGGTCGCGGGAGCGGGAGGGAGGCGCTGCCGGGCCTGTCGCGCAAGGACGTCGGTCCTCCCAGGTTTGAGGGC
GGTCAGGCGGGGTCAAGGCCAGGCAGCGGGGCGCGTCTGCGTTGCGCCCGACTCTCCGCGGTTACCTGTGCCTAGAGGTGATTTGAAGGGCAGGGGCCGA
GAGATTCGTAGCCCTGCTGCGGCGCCGTCCCGGAGTTCCCCGGCCCAGACCAGACCCGCGGGGCGCCCTCAGCAGCCCGCCCGTCTTGCACTCGGAGAGC
GGTCCTGGCAGGAAGGCCGGCCAGTGTGCACCCGGTTCGGGCCCCTGCGCCCGGGCTGGCAAGATGGCCACGCCCCCAGCAGAGACGGCGCCTCTAGGAC
ACCATCGGGGACCGAGGACCAGCTTTATCCAGGGACTCTACCATTCCCACCCCTTTGGCCCCACTCCACGACAACCACTTCCCCATCTTCTCCTCTATTC
TGGTCTCCCCTGCCCCCACGCCTTCCCACCCAGCGTCTTCCCCAGGTTCCCCCACTACCTCTCCCTCAGATCCAGGCCCTCAGCTCAGCATGGGTGGTTC
TCCCTCCAGGAAAGGGGGAGGAGGGACCAGGACCTGAGTTGCATAGCGGCTGCCTGGATGGGCTTAGAAGCCTTTTTGAGGGACCTCCCTGCCCCTATCC
TGGGGCTTGGATACCTTTCCAAGTCCCTGGAACTGCCCACCCTTCCCCTGCCACCCCGTCAGGAGATCCTAGTATGGAGGAACATCTGTCTGTCATGTAT
GAGAGACTGAGACAAGAGCTTCCCAAGCTCTTCCTTCAGTCCCACGACTACAGTCTGTATTCCTTGGATGTGGAATTCATCAATGAGATCCTCAACATAC
GTACCAAGGGCCGGACATGGTACATTCTTTCACTGACCCTCTGCCGTTTCCTGGCCTGGAATTATTTTGCACACCTTCGTTTGGAGGTTTTACAGCTGAC
CCGCCACCCKGAGAACTGGACCCTGCAAGCCCGGTGGCGGCTTGTGGGGCTGCCCGTCCACTTGCTCTTTTTGCGGTTCTACAAGCGTGACAAAGACGAG
CATTACCGGACCTATGATGCCTACTCCACTTTCTACCTGAATTCCAGTGGCCTCATTTGTCGCCATCGTCTAGATAAKCTGATGCCTTCACACTCACCTC
CAACGCCTGTGAAGAAGCTGCTAGTGGGAGCCCTGGTGGCCCTGGGGCTGTCAGAGCCAGAACCTGACTTAAACCTGTGTTCCAAGCCCTGATCCTTGAC
CTTGGAGTGGAGGCAGCACTGAAGACTGCTACGCCCAAGAGAAGGAGGTGGAGGCAGCCAAGAATCTCAGGAGCCAGCTTCCTCTCCTCGTTTCTCTCCT
TCCTTCCTTTCCATCTCATGCTGTGTAAAGCTGCTGTGTAATTTAACTTGTAAATAATAAAGTTTAACTGACTATATG

Protein Sequence    (SEQ ID NO:1064):
MEEHLSVMYERLRQELPKLFLQSHDYSLYSLDVEFINEILNIRTKGRTWYILSLTLCRFLAWNYFAHLRLEVLQLTRHPENWTLQARWRLVGLPVHLLFL
RFYKRDKDEHYRTYDAYSTFYLNSSGLICRHRLDKLMPSHSPPTPVKKLLVGALVALGLSEPEPDLNLCSKP


SNP Information

Context             (SEQ ID NO:6327):
GCCGGACATGGTACATTCTTTCACTGACCCTCTGCCGTTTCCTGGCCTGGAATTATTTTGCACACCTTCGTTTGGAGGTTTTACAGCTGACCCGCCACCC
K
GAGAACTGGACCCTGCAAGCCCGGTGGCGGCTTGTGGGGCTGCCCGTCCACTTGCTCTTTTTGCGGTTCTACAAGCGTGACAAAGACGAGCATTACCGGA
Celera SNP ID:            hCV25967832
SNP Position Transcript:  1010
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1064, 79, (P,CCG)   (P,CCT)   



Context             (SEQ ID NO:6328):
TCTACAAGCGTGACAAAGACGAGCATTACCGGACCTATGATGCCTACTCCACTTTCTACCTGAATTCCAGTGGCCTCATTTGTCGCCATCGTCTAGATAA
K
CTGATGCCTTCACACTCACCTCCAACGCCTGTGAAGAAGCTGCTAGTGGGAGCCCTGGTGGCCCTGGGGCTGTCAGAGCCAGAACCTGACTTAAACCTGT
Celera SNP ID:            hCV8692893
SNP Position Transcript:  1178
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1064, None   



Gene Number:                 137
Celera Gene:                 hCG2039659 - 209000071832044
Celera Transcript:           hCT2261538 - 209000071832113
Public Transcript Accession: NM_172346
Celera Protein:              hCP1789653 - 209000071832042
Public Protein Accession:    NP_758854
Gene Symbol:                 ABCA6
Protein Name:                ATP-binding cassette, sub-family A (ABC1), member 6;EST155051
Celera Genomic Axis:         GA_x5YUV32W262(4152075..4214945)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:368):
CTGCTGGAGTAGGCACCCATTTAAAGAAAAAATGAAGAAGCAGCAATAAAGAAGTTGTAATCGTTACCTAGACAAACAGAGAACTGGTTTTGACAGTGTT
TCTAGAGTGCTTTTTATTATTTTCCTGACAGTTGTGTTCCACCATGATTACTTTCTCCTTCAGCGAATAGGCTAAATGAATATGAAACAGAAAAGCGTGT
ATCAGCAAACCAAAGCACTTCTGTGCAAGAATTTTCTTAAGAAATGGAGGATGAAAAGAGAGAGCTTATTGGAATGGGGCCTCTCAATACTTCTAGGACT
GTGTATTGCTCTGTTTTCCAGTTCCATGAGAAATGTCCAGTTTCCTGGAATGGCTCCTCAGAATCTGGGAAGGGTAGATAAATTTAATAGCTCTTCTTTA
ATGGTTGTGTATACACCAATATCTAATTTAACCCAGCAGATAATGAATAAAACAGCACTTGCTCCTCTTTTGAAAGGAACAAGTGTCATTGGGGCACCAA
ATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGG
ATATAACAGTCCACTTTGGAAAGAAGATTTCTCAGCTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTT
GTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAAATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGA
CATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGT
AACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTGGCTCTCCTGGGGTCTAATCTATGCTGGCTTCATC
TTTATTATTTCCATATTCRTTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCT
TATCTTTGGTAGCTTTGGTGTTCCTGATGAGTGTGCTGTTAAAGAAAGCTGTCCTCACCAATTTGGTTGTGTTTCTCCTTACCCTCTTTTGGGGATGTCT
GGGATTCACTGTATTTTATGAACAACTTCCTTCATCTCTGGAGTGGATTTTGAATATTTGTAGCCCTTTTGCCTTTACTACTGGAATGATTCAGATTATC
AAACTGGATTATAACTTGAATGGTGTAATTTTTCCTGACCCTTCAGGAGACTCATATACAATGATAGCAACTTTTTCTATGTTGCTTTTGGATGGTCTCA
TCTACTTGCTATTGGCATTATACTTTGACAAAATTTTACCCTATGGAGATGAGCGCCATTATTCTCCTTTATTTTTCTTGAATTCATCATCTTGTTTCCA
ACACCAAAGGACTAATGCTAAGGTTATTGAGAAAGAAATCGATGCTGAGCATCCCTCTGATGATTATTTTGAACCAGTAGCTCCTGAATTCCAAGGAAAA
GAAGCCATCAGAATCAGAAATGTTAAGAAGGAATATAAAGGAAAATCTGGAAAAGTGGAAGCATTGAAAGGCTTGCTCTTTGACATATATGAAGGTCAAA
TCACGGCAATCCTGGGTCACAGTGGAGCTGGCAAATCTTCACTGCTAAATATTCTTAATGGATTGTCTGTTCCAACAGAAGGATCAGTTACCATCTATAA
TAAAAATCTCTCTGAAATGCAAGACTTGGAGGAAATCAGAAAGATAACTGGCGTCTGTCCTCAATTCAATGTTCAATTTGACATACTCACCGTGAAGGAA
AACCTCAGCCTGTTTGCTAAAATAAAAGGGATTCATCTAAAGGAAGTGGAACAAGAGGTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAG
ATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAAATTTTGCTYTTAGATGAACCAAC
TACTGGATTGGATCCCTTTTCCAGAGATCAAGTGTGGAGCCTCCTGAGAGAGCGTAGAGCAGATCATGTGATCCTTTTCAGTACCCAGTCCATGGATGAG
GCTGACATCCTGGCTGATAGAAAAGTGATCATGTCCAATGGGAGACTGAAGTGTGCAGGTTCTTCTATSTTTTTGAAAAGAAGGTGGGGTCTTGGATATC
ACCTAAGTTTACATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCCCCGATGCTAAATTAAAAACAGAAAACAAAGA
AAAGCTTGTATATACTTTGCCACTGGAAAGGACAAATACATTTCCAGATCTTTTCAGTGATCTGGATAAGTGTTCTGACCAGGGAGTGACAGGTTATGAC
ATTTCCATGTCAACTCTAAATGAAGTCTTTATGAAACTGGAAGGACAGTCAACTATCGAACAAGATTTCGAACAAGTGGAGATGATAAGAGACTCAGAAA
GCCTCAATGAAATGGAGCTGGCTCACTCTTCCTTCTCTGAAATGCAGACAGCTGTGAGTGACATGGGCCTCTGGAGAATGCAAGTCTTTGCCATGGCACG
GCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCTATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAATR
TATGCTATGTTAAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGA
TCATCAATAACACAGAATCAAATATTGAAGATTTTATAAAATCACTGAAGCATCAAAATATACTTTTGGAAGTAGATGACTTTGAAAACAGAAATGGTAC
TGATGGCCTCTCATACAATGGAGCTATCATAGTTTCTGGTAAACAAAAGGATTATAGATTTTCAGTTGTGTGTAATACCAAGAGATTGCACTGTTTTCCA
ATTCTTATGAATATTATCAGCAATGGGCTACTTCAAATGTTTAATCACACACAACATATTCGAATTGAGTCAAGCCCATTTCCTCTTAGCCACATAGGAC
TCTGGACTGGGTTGCCGGATGGTTCCTTTTTCTTATTTTTGGTTCTATGTAGCATTTCTCCTTATATCACCATGGGCAGCATCAGTGATTACAAGAAAAA
TGCTAAGTCCCAGCTATGGATTTCAGGCCTCTACACTTCTGCTTACTGGTGTGGGCAGGCACTAGTGGACGTCAGCTTCTTCATTTTAATTCTCCTTTTA
ATGTATTTAATTTTCTACATAGAAAACATGCAGTACCTTCTTATTACAAGCCAAATTGTGTTTGCTTTGGTTATAGTTACTCCTGGTTATGCAGCTTCTC
TTGTCTTCTTCATATATATGATATCATTTATTTTTCGCAAAAGGAGAAAAAACAGTGGCCTTTGGTCATTTTACTTCTTTTTTGCCTCCACCATCATGTT
TTCCATCACTTTAATCAATCATTTTGACCTRAGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAA
GTGAGAGACCAGGAGCACTACAGAGAATTTCCAGAGGCAAATTTTGAATTGAGTGCCACTGATTTTCTAGTCTGCTTCATACCCTACTTTCAGACTTTGC
TATTCGTTTTTGTTCTAAGATGCATGGAACTAAAATGTGGAAAGAAAAGAATGCGAAAAGATCCTGTTTTCAGAATTTCCCCCCAAAGTAGAGATGCTAA
GCCAAATCCAGAAGAACCCATAGATGAAGATGAAGATATTCAAACAGAAAGAATAAGAACAGCCACTGCTCTGACCACTTCAATCTTAGATGAGAAACCT
GTTATAATTGCCAGCTGTCTACACAAAGAATATGCAGGCCAGAAGAAAAGTTGCTTTTCAAAGAGGAAGAAGAAAATAGCAGCAAGAAATATCTCTTTCT
GTGTTCAAGAAGGTGAAATTTTGGGATTGCTAGGACCCARTGGTGCTGGAAAAAGTTCATCTATTAGAATGATATCTGGGATCACAAAGCCAACTGCTGG
AGAGGTGGAACTGAAAGGCTGCAGTTCAGTTTTGGGCCACCTGGGGTACTGCCCTCAAGAGAACGTGCTGTGGCCCATGCTGACGTTGAGGGAACACCTG
GAGGTGTATGCTGCCGTCAAGGGGCTCAGGAAAGCGGACGCGAGGCTCGCCATCGCAAGATTAGTGAGTGCTTTCAAACTGCATGAGCAGCTGAATGTTC
CTGTGCAGAAATTAACAGCAGGAATCACGAGAAAGTTGTGTTTTGTGCTGAGCCTCCTGGGAAACTCACCTGTCTTGCTCCTGGATGAACCATCTACGGG
CATAGACCCCACAGGGCAGCAGCAAATGTGGCAGGCAATCCAGGCAGTYGTTAAAAACACAGAGAGAGGTGTCCTCCTGACCACCCATAACCTGGCTGAG
GCGGAAGCCTTGTGTGACCGTGTGGCCATCATGGTGTCTGGAAGGCTTAGATGCATTGGCTCCATCCAACACCTGAAAAACAAACTTGGCAAGGATTACA
TTCTAGAGCTAAAAGTGAAGGAAACGTCTCAAGTGACTTTGGTCCACACTGAGATTCTGAAGCTTTTCCCACAGGCTGCAGGGCAGGAAAGGTATTCCTC
TTTGTTAACCTATAAGCTGCCCGTGGCAGACGTTTACCCTCTATCACAGACCTTTCACAAATTAGAAGCAGTGAAGCATAACTTTAACCTGGAAGAATAC
AGCCTTTCTCAGTGCACACTGGAGAAGGTATTCTTAGAGCTTTCTAAAGAACAGGAAGTAGGAAATTTTGATGAAGAAATTGATACAACAATGAGATGGA
AACTCCTCCCTCATTCAGATGAACCTTAAAACCTCAAACCTAGTAATTTTTTGTTGATCTCCTATAAACTYATGTTTTATGTAATAATTAATAGTATGTT
TAATTTTAAAGATCATTTAAAATTAACATCAGGTATATTTTGTAAATTTAGTTAACAAATACATAAATTTTAAAATTATTCTTCCTCTCAAACATAGGGG
TGATAGCAAACCTGTGATAAAGGCAATACAAAATATTAGTAAAGTCACCCAAAGAGTCAGGCACTGGGTATTGTGGAAATAAAACTATATAAACTT

Protein Sequence    (SEQ ID NO:1065):
MNMKQKSVYQQTKALLCKNFLKKWRMKRESLLEWGLSILLGLCIALFSSSMRNVQFPGMAPQNLGRVDKFNSSSLMVVYTPISNLTQQIMNKTALAPLLK
GTSVIGAPNKTHMDEILLENLPYAMGIIFNETFSYKLIFFQGYNSPLWKEDFSAHCWDGYGEFSCTLTKYWNRGFVALQTAINTAIIEITTNHPVMEELM
SVTAITMKTLPFITKNLLHNEMFILFFLLHFSPLVYFISLNVTKERKKSKNLMKMMGLQDSAFWLSWGLIYAGFIFIISIFVTIIITFTQIIVMTGFMVI
FILFFLYGLSLVALVFLMSVLLKKAVLTNLVVFLLTLFWGCLGFTVFYEQLPSSLEWILNICSPFAFTTGMIQIIKLDYNLNGVIFPDPSGDSYTMIATF
SMLLLDGLIYLLLALYFDKILPYGDERHYSPLFFLNSSSCFQHQRTNAKVIEKEIDAEHPSDDYFEPVAPEFQGKEAIRIRNVKKEYKGKSGKVEALKGL
LFDIYEGQITAILGHSGAGKSSLLNILNGLSVPTEGSVTIYNKNLSEMQDLEEIRKITGVCPQFNVQFDILTVKENLSLFAKIKGIHLKEVEQEVQRILL
ELDMQNIQDNLAKHLSEGQKRKLTFGITILGDPQILLLDEPTTGLDPFSRDQVWSLLRERRADHVILFSTQSMDEADILADRKVIMSNGRLKCAGSSMFL
KRRWGLGYHLSLHRNEICNPEQITSFITHHIPDAKLKTENKEKLVYTLPLERTNTFPDLFSDLDKCSDQGVTGYDISMSTLNEVFMKLEGQSTIEQDFEQ
VEMIRDSESLNEMELAHSSFSEMQTAVSDMGLWRMQVFAMARLRFLKLKRQTKVLLTLLLVFGIAIFPLIVENIIYAMLNEKIDWEFKNELYFLSPGQLP
QEPRTSLLIINNTESNIEDFIKSLKHQNILLEVDDFENRNGTDGLSYNGAIIVSGKQKDYRFSVVCNTKRLHCFPILMNIISNGLLQMFNHTQHIRIESS
PFPLSHIGLWTGLPDGSFFLFLVLCSISPYITMGSISDYKKNAKSQLWISGLYTSAYWCGQALVDVSFFILILLLMYLIFYIENMQYLLITSQIVFALVI
VTPGYAASLVFFIYMISFIFRKRRKNSGLWSFYFFFASTIMFSITLINHFDLSILITTMVLVPSYTLLGFKTFLEVRDQEHYREFPEANFELSATDFLVC
FIPYFQTLLFVFVLRCMELKCGKKRMRKDPVFRISPQSRDAKPNPEEPIDEDEDIQTERIRTATALTTSILDEKPVIIASCLHKEYAGQKKSCFSKRKKK
IAARNISFCVQEGEILGLLGPNGAGKSSSIRMISGITKPTAGEVELKGCSSVLGHLGYCPQENVLWPMLTLREHLEVYAAVKGLRKADARLAIARLVSAF
KLHEQLNVPVQKLTAGITRKLCFVLSLLGNSPVLLLDEPSTGIDPTGQQQMWQAIQAVVKNTERGVLLTTHNLAEAEALCDRVAIMVSGRLRCIGSIQHL
KNKLGKDYILELKVKETSQVTLVHTEILKLFPQAAGQERYSSLLTYKLPVADVYPLSQTFHKLEAVKHNFNLEEYSLSQCTLEKVFLELSKEQEVGNFDE
EIDTTMRWKLLPHSDEP


SNP Information

Context             (SEQ ID NO:6329):
TGAGCCTCCTGGGAAACTCACCTGTCTTGCTCCTGGATGAACCATCTACGGGCATAGACCCCACAGGGCAGCAGCAAATGTGGCAGGCAATCCAGGCAGT
Y
GTTAAAAACACAGAGAGAGGTGTCCTCCTGACCACCCATAACCTGGCTGAGGCGGAAGCCTTGTGTGACCGTGTGGCCATCATGGTGTCTGGAAGGCTTA
Celera SNP ID:            hCV25996504
SNP Position Transcript:  4549
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,27|T,3)   total(C,56|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1065, 1458, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:6330):
TGATCCTTTTCAGTACCCAGTCCATGGATGAGGCTGACATCCTGGCTGATAGAAAAGTGATCATGTCCAATGGGAGACTGAAGTGTGCAGGTTCTTCTAT
S
TTTTTGAAAAGAAGGTGGGGTCTTGGATATCACCTAAGTTTACATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCC
Celera SNP ID:            hCV2588405
SNP Position Transcript:  2269
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,7)   total(G,7|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1065, 698, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:6331):
TTTTTCGCAAAAGGAGAAAAAACAGTGGCCTTTGGTCATTTTACTTCTTTTTTGCCTCCACCATCATGTTTTCCATCACTTTAATCAATCATTTTGACCT
R
AGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAAGTGAGAGACCAGGAGCACTACAGAGAATTTC
Celera SNP ID:            hCV25994515
SNP Position Transcript:  3631
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,3)   caucasian(A,34)   total(A,61|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1065, 1152, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:6332):
CAGAAGAAAAGTTGCTTTTCAAAGAGGAAGAAGAAAATAGCAGCAAGAAATATCTCTTTCTGTGTTCAAGAAGGTGAAATTTTGGGATTGCTAGGACCCA
R
TGGTGCTGGAAAAAGTTCATCTATTAGAATGATATCTGGGATCACAAAGCCAACTGCTGGAGAGGTGGAACTGAAAGGCTGCAGTTCAGTTTTGGGCCAC
Celera SNP ID:            hCV2588398
SNP Position Transcript:  4140
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,6)   caucasian(A,6|G,16)   total(A,24|G,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1065, 1322, (N,AAT)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,3)      total(G,2|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1065, 1322, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:6333):
TGCAAAACATTCAAGATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAAATTTTGCT
Y
TTAGATGAACCAACTACTGGATTGGATCCCTTTTCCAGAGATCAAGTGTGGAGCCTCCTGAGAGAGCGTAGAGCAGATCATGTGATCCTTTTCAGTACCC
Celera SNP ID:            hCV11938162
SNP Position Transcript:  2086
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,5)      total(C,1|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1065, 637, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:6334):
GTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTGGCTCTCCTGGGGTCTAATCTATGCTGGCTTCATCTTTATTATTTCCATATTC
R
TTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCTTATCTTTGGTAGCTTTGGT
Celera SNP ID:            hCV2588408
SNP Position Transcript:  1019
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1065, 282, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:6335):
GGCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCTATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAAT
R
TATGCTATGTTAAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGA
Celera SNP ID:            hCV29395715
SNP Position Transcript:  2800
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1065, 875, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:6336):
ATGAAGAAATTGATACAACAATGAGATGGAAACTCCTCCCTCATTCAGATGAACCTTAAAACCTCAAACCTAGTAATTTTTTGTTGATCTCCTATAAACT
Y
ATGTTTTATGTAATAATTAATAGTATGTTTAATTTTAAAGATCATTTAAAATTAACATCAGGTATATTTTGTAAATTTAGTTAACAAATACATAAATTTT
Celera SNP ID:            hCV2600113
SNP Position Transcript:  5071
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,27)   caucasian(C,8|T,16)   total(C,11|T,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1065, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1065, None   



Gene Number:                 137
Celera Gene:                 hCG2039659 - 209000071832044
Celera Transcript:           hCT2261534 - 209000071831814
Public Transcript Accession: NM_172346
Celera Protein:              hCP1789645 - 209000071832041
Public Protein Accession:    NP_758854
Gene Symbol:                 ABCA6
Protein Name:                ATP-binding cassette, sub-family A (ABC1), member 6;EST155051
Celera Genomic Axis:         GA_x5YUV32W262(4152075..4214945)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:369):
CTGCTGGAGTAGGCACCCATTTAAAGAAAAAATGAAGAAGCAGCAATAAAGAAGTTGTAATCGTTACCTAGACAAACAGAGAACTGGTTTTGACAGTGTT
TCTAGAGTGCTTTTTATTATTTTCCTGACAGTTGTGTTCCACCATGATTACTTTCTCCTTCAGCGAATAGGCTAAATGAATATGAAACAGAAAAGCGTGT
ATCAGCAAACCAAAGCACTTCTGTGCAAGAATTTTCTTAAGAAATGGAGGATGAAAAGAGAGAGCTTATTGGAATGGGGCCTCTCAATACTTCTAGGACT
GTGTATTGCTCTGTTTTCCAGTTCCATGAGAAATGTCCAGTTTCCTGGAATGGCTCCTCAGAATCTGGGAAGGGTAGATAAATTTAATAGCTCTTCTTTA
ATGGTTGTGTATACACCAATATCTAATTTAACCCAGCAGATAATGAATAAAACAGCACTTGCTCCTCTTTTGAAAGGAACAAGTGTCATTGGGGCACCAA
ATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGG
ATATAACAGTCCACTTTGGAAAGAAGATTTCTCAGCTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTT
GTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAAATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGA
CATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGT
AACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTGGCTCTCCTGGGGTCTAATCTATGCTGGCTTCATC
TTTATTATTTCCATATTCRTTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCT
TATCTTTGGTAGCTTTGGTGTTCCTGATGAGTGTGCTGTTAAAGAAAGCTGTCCTCACCAATTTGGTTGTGTTTCTCCTTACCCTCTTTTGGGGATGTCT
GGGATTCACTGTATTTTATGAACAACTTCCTTCATCTCTGGAGTGGATTTTGAATATTTGTAGCCCTTTTGCCTTTACTACTGGAATGATTCAGATTATC
AAACTGGATTATAACTTGAATGGTGTAATTTTTCCTGACCCTTCAGGAGACTCATATACAATGATAGCAACTTTTTCTATGTTGCTTTTGGATGGTCTCA
TCTACTTGCTATTGGCATTATACTTTGACAAAATTTTACCCTATGGAGATGAGCGCCATTATTCTCCTTTATTTTTCTTGAATTCATCATCTTGTTTCCA
ACACCAAAGGACTAATGCTAAGGTTATTGAGAAAGAAATCGATGCTGAGCATCCCTCTGATGATTATTTTGAACCAGTAGCTCCTGAATTCCAAGGAAAA
GAAGCCATCAGAATCAGAAATGTTAAGAAGGAATATAAAGGAAAATCTGGAAAAGTGGAAGCATTGAAAGGCTTGCTCTTTGACATATATGAAGGTCAAA
TCACGGCAATCCTGGGTCACAGTGGAGCTGGCAAATCTTCACTGCTAAATATTCTTAATGGATTGTCTGTTCCAACAGAAGGATCAGTTACCATCTATAA
TAAAAATCTCTCTGAAATGCAAGACTTGGAGGAAATCAGAAAGATAACTGGCGTCTGTCCTCAATTCAATGTTCAATTTGACATACTCACCGTGAAGGAA
AACCTCAGCCTGTTTGCTAAAATAAAAGGGATTCATCTAAAGGAAGTGGAACAAGAGGTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAG
ATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAATCCATGGATGAGGCTGACATCCT
GGCTGATAGAAAAGTGATCATGTCCAATGGGAGACTGAAGTGTGCAGGTTCTTCTATSTTTTTGAAAAGAAGGTGGGGTCTTGGATATCACCTAAGTTTA
CATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCCCCGATGCTAAATTAAAAACAGAAAACAAAGAAAAGCTTGTAT
ATACTTTGCCACTGGAAAGGACAAATACATTTCCAGATCTTTTCAGTGATCTGGATAAGTGTTCTGACCAGGGAGTGACAGGTTATGACATTTCCATGTC
AACTCTAAATGAAGTCTTTATGAAACTGGAAGGACAGTCAACTATCGAACAAGATTTCGAACAAGTGGAGATGATAAGAGACTCAGAAAGCCTCAATGAA
ATGGAGCTGGCTCACTCTTCCTTCTCTGAAATGCAGACAGCTGTGAGTGACATGGGCCTCTGGAGAATGCAAGTCTTTGCCATGGCACGGCTCCGTTTCT
TAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCTATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAATRTATGCTATGTT
AAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGATCATCAATAAC
ACAGAATCAAATATTGAAGATTTTATAAAATCACTGAAGCATCAAAATATACTTTTGGAAGTAGATGACTTTGAAAACAGAAATGGTACTGATGGCCTCT
CATACAATGGAGCTATCATAGTTTCTGGTAAACAAAAGGATTATAGATTTTCAGTTGTGTGTAATACCAAGAGATTGCACTGTTTTCCAATTCTTATGAA
TATTATCAGCAATGGGCTACTTCAAATGTTTAATCACACACAACATATTCGAATTGAGTCAAGCCCATTTCCTCTTAGCCACATAGGACTCTGGACTGGG
TTGCCGGATGGTTCCTTTTTCTTATTTTTGGTTCTATGTAGCATTTCTCCTTATATCACCATGGGCAGCATCAGTGATTACAAGAAAAATGCTAAGTCCC
AGCTATGGATTTCAGGCCTCTACACTTCTGCTTACTGGTGTGGGCAGGCACTAGTGGACGTCAGCTTCTTCATTTTAATTCTCCTTTTAATGTATTTAAT
TTTCTACATAGAAAACATGCAGTACCTTCTTATTACAAGCCAAATTGTGTTTGCTTTGGTTATAGTTACTCCTGGTTATGCAGCTTCTCTTGTCTTCTTC
ATATATATGATATCATTTATTTTTCGCAAAAGGAGAAAAAACAGTGGCCTTTGGTCATTTTACTTCTTTTTTGCCTCCACCATCATGTTTTCCATCACTT
TAATCAATCATTTTGACCTRAGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAAGTGAGAGACCA
GGAGCACTACAGAGAATTTCCAGAGGCAAATTTTGAATTGAGTGCCACTGATTTTCTAGTCTGCTTCATACCCTACTTTCAGACTTTGCTATTCGTTTTT
GTTCTAAGATGCATGGAACTAAAATGTGGAAAGAAAAGAATGCGAAAAGATCCTGTTTTCAGAATTTCCCCCCAAAGTAGAGATGCTAAGCCAAATCCAG
AAGAACCCATAGATGAAGATGAAGATATTCAAACAGAAAGAATAAGAACAGCCACTGCTCTGACCACTTCAATCTTAGATGAGAAACCTGTTATAATTGC
CAGCTGTCTACACAAAGAATATGCAGGCCAGAAGAAAAGTTGCTTTTCAAAGAGGAAGAAGAAAATAGCAGCAAGAAATATCTCTTTCTGTGTTCAAGAA
GGTGAAATTTTGGGATTGCTAGGACCCARTGGTGCTGGAAAAAGTTCATCTATTAGAATGATATCTGGGATCACAAAGCCAACTGCTGGAGAGGTGGAAC
TGAAAGGCTGCAGTTCAGTTTTGGGCCACCTGGGGTACTGCCCTCAAGAGAACGTGCTGTGGCCCATGCTGACGTTGAGGGAACACCTGGAGGTGTATGC
TGCCGTCAAGGGGCTCAGGAAAGCGGACGCGAGGCTCGCCATCGCAAGATTAGTGAGTGCTTTCAAACTGCATGAGCAGCTGAATGTTCCTGTGCAGAAA
TTAACAGCAGGAATCACGAGAAAGTTGTGTTTTGTGCTGAGCCTCCTGGGAAACTCACCTGTCTTGCTCCTGGATGAACCATCTACGGGCATAGACCCCA
CAGGGCAGCAGCAAATGTGGCAGGCAATCCAGGCAGTYGTTAAAAACACAGAGAGAGGTGTCCTCCTGACCACCCATAACCTGGCTGAGGCGGAAGCCTT
GTGTGACCGTGTGGCCATCATGGTGTCTGGAAGGCTTAGATGCATTGGCTCCATCCAACACCTGAAAAACAAACTTGGCAAGGATTACATTCTAGAGCTA
AAAGTGAAGGAAACGTCTCAAGTGACTTTGGTCCACACTGAGATTCTGAAGCTTTTCCCACAGGCTGCAGGGCAGGAAAGGTATTCCTCTTTGTTAACCT
ATAAGCTGCCCGTGGCAGACGTTTACCCTCTATCACAGACCTTTCACAAATTAGAAGCAGTGAAGCATAACTTTAACCTGGAAGAATACAGCCTTTCTCA
GTGCACACTGGAGAAGGTATTCTTAGAGCTTTCTAAAGAACAGGAAGTAGGAAATTTTGATGAAGAAATTGATACAACAATGAGATGGAAACTCCTCCCT
CATTCAGATGAACCTTAAAACCTCAAACCTAGTAATTTTTTGTTGATCTCCTATAAACTYATGTTTTATGTAATAATTAATAGTATGTTTAATTTTAAAG
ATCATTTAAAATTAACATCAGGTATATTTTGTAAATTTAGTTAACAAATACATAAATTTTAAAATTATTCTTCCTCTCAAACATAGGGGTGATAGCAAAC
CTGTGATAAAGGCAATACAAAATATTAGTAAAGTCACCCAAAGAGTCAGGCACTGGGTATTGTGGAAATAAAACTATATAAACTT

Protein Sequence    (SEQ ID NO:1066):
MNMKQKSVYQQTKALLCKNFLKKWRMKRESLLEWGLSILLGLCIALFSSSMRNVQFPGMAPQNLGRVDKFNSSSLMVVYTPISNLTQQIMNKTALAPLLK
GTSVIGAPNKTHMDEILLENLPYAMGIIFNETFSYKLIFFQGYNSPLWKEDFSAHCWDGYGEFSCTLTKYWNRGFVALQTAINTAIIEITTNHPVMEELM
SVTAITMKTLPFITKNLLHNEMFILFFLLHFSPLVYFISLNVTKERKKSKNLMKMMGLQDSAFWLSWGLIYAGFIFIISIFVTIIITFTQIIVMTGFMVI
FILFFLYGLSLVALVFLMSVLLKKAVLTNLVVFLLTLFWGCLGFTVFYEQLPSSLEWILNICSPFAFTTGMIQIIKLDYNLNGVIFPDPSGDSYTMIATF
SMLLLDGLIYLLLALYFDKILPYGDERHYSPLFFLNSSSCFQHQRTNAKVIEKEIDAEHPSDDYFEPVAPEFQGKEAIRIRNVKKEYKGKSGKVEALKGL
LFDIYEGQITAILGHSGAGKSSLLNILNGLSVPTEGSVTIYNKNLSEMQDLEEIRKITGVCPQFNVQFDILTVKENLSLFAKIKGIHLKEVEQEVQRILL
ELDMQNIQDNLAKHLSEGQKRKLTFGITILGDPQSMDEADILADRKVIMSNGRLKCAGSSMFLKRRWGLGYHLSLHRNEICNPEQITSFITHHIPDAKLK
TENKEKLVYTLPLERTNTFPDLFSDLDKCSDQGVTGYDISMSTLNEVFMKLEGQSTIEQDFEQVEMIRDSESLNEMELAHSSFSEMQTAVSDMGLWRMQV
FAMARLRFLKLKRQTKVLLTLLLVFGIAIFPLIVENIIYAMLNEKIDWEFKNELYFLSPGQLPQEPRTSLLIINNTESNIEDFIKSLKHQNILLEVDDFE
NRNGTDGLSYNGAIIVSGKQKDYRFSVVCNTKRLHCFPILMNIISNGLLQMFNHTQHIRIESSPFPLSHIGLWTGLPDGSFFLFLVLCSISPYITMGSIS
DYKKNAKSQLWISGLYTSAYWCGQALVDVSFFILILLLMYLIFYIENMQYLLITSQIVFALVIVTPGYAASLVFFIYMISFIFRKRRKNSGLWSFYFFFA
STIMFSITLINHFDLSILITTMVLVPSYTLLGFKTFLEVRDQEHYREFPEANFELSATDFLVCFIPYFQTLLFVFVLRCMELKCGKKRMRKDPVFRISPQ
SRDAKPNPEEPIDEDEDIQTERIRTATALTTSILDEKPVIIASCLHKEYAGQKKSCFSKRKKKIAARNISFCVQEGEILGLLGPNGAGKSSSIRMISGIT
KPTAGEVELKGCSSVLGHLGYCPQENVLWPMLTLREHLEVYAAVKGLRKADARLAIARLVSAFKLHEQLNVPVQKLTAGITRKLCFVLSLLGNSPVLLLD
EPSTGIDPTGQQQMWQAIQAVVKNTERGVLLTTHNLAEAEALCDRVAIMVSGRLRCIGSIQHLKNKLGKDYILELKVKETSQVTLVHTEILKLFPQAAGQ
ERYSSLLTYKLPVADVYPLSQTFHKLEAVKHNFNLEEYSLSQCTLEKVFLELSKEQEVGNFDEEIDTTMRWKLLPHSDEP


SNP Information

Context             (SEQ ID NO:6337):
TGAGCCTCCTGGGAAACTCACCTGTCTTGCTCCTGGATGAACCATCTACGGGCATAGACCCCACAGGGCAGCAGCAAATGTGGCAGGCAATCCAGGCAGT
Y
GTTAAAAACACAGAGAGAGGTGTCCTCCTGACCACCCATAACCTGGCTGAGGCGGAAGCCTTGTGTGACCGTGTGGCCATCATGGTGTCTGGAAGGCTTA
Celera SNP ID:            hCV25996504
SNP Position Transcript:  4438
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,27|T,3)   total(C,56|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1066, 1421, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:6338):
CCATTTTAGGAGATCCTCAATCCATGGATGAGGCTGACATCCTGGCTGATAGAAAAGTGATCATGTCCAATGGGAGACTGAAGTGTGCAGGTTCTTCTAT
S
TTTTTGAAAAGAAGGTGGGGTCTTGGATATCACCTAAGTTTACATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCC
Celera SNP ID:            hCV2588405
SNP Position Transcript:  2158
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,7)   total(G,7|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1066, 661, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:6339):
TTTTTCGCAAAAGGAGAAAAAACAGTGGCCTTTGGTCATTTTACTTCTTTTTTGCCTCCACCATCATGTTTTCCATCACTTTAATCAATCATTTTGACCT
R
AGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAAGTGAGAGACCAGGAGCACTACAGAGAATTTC
Celera SNP ID:            hCV25994515
SNP Position Transcript:  3520
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,3)   caucasian(A,34)   total(A,61|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1066, 1115, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:6340):
CAGAAGAAAAGTTGCTTTTCAAAGAGGAAGAAGAAAATAGCAGCAAGAAATATCTCTTTCTGTGTTCAAGAAGGTGAAATTTTGGGATTGCTAGGACCCA
R
TGGTGCTGGAAAAAGTTCATCTATTAGAATGATATCTGGGATCACAAAGCCAACTGCTGGAGAGGTGGAACTGAAAGGCTGCAGTTCAGTTTTGGGCCAC
Celera SNP ID:            hCV2588398
SNP Position Transcript:  4029
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,6)   caucasian(A,6|G,16)   total(A,24|G,22)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1066, 1285, (N,AAT)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,3)      total(G,2|A,3) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1066, 1285, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:6341):
GTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTGGCTCTCCTGGGGTCTAATCTATGCTGGCTTCATCTTTATTATTTCCATATTC
R
TTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCTTATCTTTGGTAGCTTTGGT
Celera SNP ID:            hCV2588408
SNP Position Transcript:  1019
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1066, 282, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:6342):
GGCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCTATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAAT
R
TATGCTATGTTAAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGA
Celera SNP ID:            hCV29395715
SNP Position Transcript:  2689
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1066, 838, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:6343):
ATGAAGAAATTGATACAACAATGAGATGGAAACTCCTCCCTCATTCAGATGAACCTTAAAACCTCAAACCTAGTAATTTTTTGTTGATCTCCTATAAACT
Y
ATGTTTTATGTAATAATTAATAGTATGTTTAATTTTAAAGATCATTTAAAATTAACATCAGGTATATTTTGTAAATTTAGTTAACAAATACATAAATTTT
Celera SNP ID:            hCV2600113
SNP Position Transcript:  4960
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,27)   caucasian(C,8|T,16)   total(C,11|T,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1066, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1066, None   



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344780 - 206000045182838
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910025 - 209000072009203
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39262586..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:370):
ACAGTCAGCTGTCGGTGGCTTCTGCTGAGATGGCCAGAGGACTCCAGGTTCCCCTGCCGYGGCTGGCCACAGGACTGCTGCTCCTCCTCAGTGTCCAGMC
CTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCACTGATGGCAGCCCCTGGCTCAGCATGCGGGAGGCCKTGCGGGAGCTCCATGCCAGAGGCCACCAG
GCGGTGGTCCTCACCCCAGAGGTGAATATGYACATCAAAGAAGAGAAATTTTTCACCCTGACAGCCTATGCTGTTCCATGGACCCAGAAGGAATTTGATC
GCGTTACGCTGGGCTACACTCAAGGGTTCTTTGAAACAGAACATCTTCTGAAGAGATATTCTAGAAGYATGGCAATTATGAACAATGTATCTTTGGCCCT
TCATAGGTGTTGTGTGGAGCTACYGCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTYTAACAGACCCCGTTAACCTCTGY
GGGGCRGTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTTTGGAGGTACWTTCCATGTGACTTAGACTTTAAGGGCACACAGTGTCCAAATCCTT
CCTCCTATATTCCTAAGTTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACMTTTG
CCATRCTKTTTCTGCCCCTTATGCAAGYCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCTATGCATCCGTGTGGCTGTTC
CGAGGGGACTTTGTGATGGACTACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAAT
TTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGC
TGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
YRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGA
TGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTT
AGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGAC
CTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGG
ACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCG
AGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGA
ATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGA
CTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCT
GGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTT
AATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGT
TTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAA
GAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGA
AGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1067):
MARGLQVPLPRLATGLLLLLSVQPWAESGKVLVVPTDGSPWLSMREALRELHARGHQAVVLTPEVNMHIKEEKFFTLTAYAVPWTQKEFDRVTLGYTQGF
FETEHLLKRYSRSMAIMNNVSLALHRCCVELLHNEALIRHLNATSFDVVLTDPVNLCGAVLAKYLSIPAVFFWRYIPCDLDFKGTQCPNPSSYIPKLLTT
NSDHMTFLQRVKNMLYPLALSYICHTFSAPYASLASELFQREVSVVDLVSYASVWLFRGDFVMDYPRPIMPNMVFIGGINCANGKPLSQEFEAYINASGE
HGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMD
NAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVV
LTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6344):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1024
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 332, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6345):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1023
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 332, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6346):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1037
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 336, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6347):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1420
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 464, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6348):
GGTGTTGTGTGGAGCTACTGCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTGCGGGGC
R
GTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTTTGGAGGTACATTCCATGTGACTTAGACTTTAAGGGCACACAGTGTCCAAATCCTTCCTCCT
Celera SNP ID:            hCV25968984
SNP Position Transcript:  506
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 159, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:6349):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1481
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 484, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6350):
GCCCACTGATGGCAGCCCCTGGCTCAGCATGCGGGAGGCCTTGCGGGAGCTCCATGCCAGAGGCCACCAGGCGGTGGTCCTCACCCCAGAGGTGAATATG
Y
ACATCAAAGAAGAGAAATTTTTCACCCTGACAGCCTATGCTGTTCCATGGACCCAGAAGGAATTTGATCGCGTTACGCTGGGCTACACTCAAGGGTTCTT
Celera SNP ID:            hCV25956395
SNP Position Transcript:  231
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 68, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:6351):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1230
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 401, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6352):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1495
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 489, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6353):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1563
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 512, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6354):
TTCATAGGTGTTGTGTGGAGCTACTGCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTG
Y
GGGGCGGTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTTTGGAGGTACATTCCATGTGACTTAGACTTTAAGGGCACACAGTGTCCAAATCCTT
Celera SNP ID:            hCV8739217
SNP Position Transcript:  500
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,33|T,7)   total(C,64|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 157, (C,TGC)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 157, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:6355):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1637
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1067, None   



Context             (SEQ ID NO:6356):
ACAGTCAGCTGTCGGTGGCTTCTGCTGAGATGGCCAGAGGACTCCAGGTTCCCCTGCCGCGGCTGGCCACAGGACTGCTGCTCCTCCTCAGTGTCCAG
M
CCTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCACTGATGGCAGCCCCTGGCTCAGCATGCGGGAGGCCTTGCGGGAGCTCCATGCCAGAGGCCACCA
Celera SNP ID:            hCV25957120
SNP Position Transcript:  99
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(A,1|C,39)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 24, (T,ACC)   (P,CCC)   



Context             (SEQ ID NO:6357):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1973
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1067, None   



Context             (SEQ ID NO:6358):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2074
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1067, None   



Context             (SEQ ID NO:6359):
TATGAACAATGTATCTTTGGCCCTTCATAGGTGTTGTGTGGAGCTACTGCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTT
Y
TAACAGACCCCGTTAACCTCTGCGGGGCGGTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTTTGGAGGTACATTCCATGTGACTTAGACTTTAA
Celera SNP ID:            hCV11742256
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,31)   caucasian(C,5|T,31)   total(C,8|T,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 150, (L,CTA)   (L,TTA)   



Context             (SEQ ID NO:6360):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1038
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 337, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6361):
TGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTGCGGGGCGGTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTTTGGAGGTAC
W
TTCCATGTGACTTAGACTTTAAGGGCACACAGTGTCCAAATCCTTCCTCCTATATTCCTAAGTTACTAACGACCAATTCAGACCACATGACATTCCTGCA
Celera SNP ID:            hCV25968489
SNP Position Transcript:  555
SNP Source:               Applera
Population(Allele,Count): african american(A,29|T,5)   caucasian(A,40)   total(A,69|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 176, (I,ATT)   (F,TTT)   



Context             (SEQ ID NO:6362):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1159
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 377, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6363):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1102
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 358, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6364):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1162
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 378, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6365):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1101
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 358, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6366):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1519
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 497, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6367):
GGGTTCTTTGAAACAGAACATCTTCTGAAGAGATATTCTAGAAGTATGGCAATTATGAACAATGTATCTTTGGCCCTTCATAGGTGTTGTGTGGAGCTAC
Y
GCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTGCGGGGCGGTGCTGGCTAAGTACCTG
Celera SNP ID:            hCV27860808
SNP Position Transcript:  424
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 132, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6368):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1131
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 368, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6369):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1134
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 369, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6370):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1314
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 429, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6371):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1341
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 438, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6372):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1460
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 477, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6373):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1845
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1067, None



Context             (SEQ ID NO:6374):
AGGACTGCTGCTCCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCACTGATGGCAGCCCCTGGCTCAGCATGCGGGAGGCC
K
TGCGGGAGCTCCATGCCAGAGGCCACCAGGCGGTGGTCCTCACCCCAGAGGTGAATATGCACATCAAAGAAGAGAAATTTTTCACCCTGACAGCCTATGC
Celera SNP ID:            hCV8739207
SNP Position Transcript:  171
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,28)   caucasian(G,4|T,32)   total(G,10|T,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 48, (V,GTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,9)      total(G,2|T,9) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 48, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:6375):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1156
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 376, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6376):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1452
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 475, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6377):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1488
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 487, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6378):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1233
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 402, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6379):
ATGCTGTTCCATGGACCCAGAAGGAATTTGATCGCGTTACGCTGGGCTACACTCAAGGGTTCTTTGAAACAGAACATCTTCTGAAGAGATATTCTAGAAG
Y
ATGGCAATTATGAACAATGTATCTTTGGCCCTTCATAGGTGTTGTGTGGAGCTACTGCATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTG
Celera SNP ID:            hCV25963987
SNP Position Transcript:  368
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,38)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 113, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:6380):
CCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACATTTGCCATACTTTTTCTGCCCCTTATGCAAG
Y
CTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCTATGCATCCGTGTGGCTGTTCCGAGGGGACTTTGTGATGGACTACCCCA
Celera SNP ID:            hCV25963406
SNP Position Transcript:  728
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,39)   total(C,1|T,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1067, 233, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:6381):
ACAGTCAGCTGTCGGTGGCTTCTGCTGAGATGGCCAGAGGACTCCAGGTTCCCCTGCCG
Y
GGCTGGCCACAGGACTGCTGCTCCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCACTGATGGCAGCCCCTGGCTCAGCAT
Celera SNP ID:            hCV27155430
SNP Position Transcript:  60
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 11, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6382):
TCCTTCCTCCTATATTCCTAAGTTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTAC
M
TTTGCCATACTTTTTCTGCCCCTTATGCAAGTCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCTATGCATCCGTGTGGCT
Celera SNP ID:            hCV25963351
SNP Position Transcript:  696
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,1)   caucasian(A,39|C,1)   total(A,72|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 223, (I,ATT)   (L,CTT)   



Context             (SEQ ID NO:6383):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1480
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 484, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6384):
TATTCCTAAGTTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACATTTGCCATACT
K
TTTCTGCCCCTTATGCAAGTCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCTATGCATCCGTGTGGCTGTTCCGAGGGGA
Celera SNP ID:            hCV25963371
SNP Position Transcript:  708
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(G,1|T,39)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 227, (V,GTT)   (F,TTT)   



Context             (SEQ ID NO:6385):
ATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  955
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 309, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6386):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1175
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 382, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:6387):
CTATATTCCTAAGTTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACATTTGCCAT
R
CTTTTTCTGCCCCTTATGCAAGTCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCTATGCATCCGTGTGGCTGTTCCGAGG
Celera SNP ID:            hCV25963358
SNP Position Transcript:  705
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,39|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1067, 226, (T,ACT)   (A,GCT)   



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344784 - 206000045182854
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910020 - 209000072009193
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39161435..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:371):
CTTCCGCCTACTGTATCATAGCAGCTTAGAATCCCAGCTGCTGGCTCGGGCTGCAGTTCTCTCATGGCTCGCACAGGGTGGACCAGCCCCATTCCCCTAT
GTGTTTSTCTGCTGCTGACCTGTGGCTTTGCTGAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGTCACTGGTTCACCATGCAGTCGGTGGTGGA
GAAACTTATCCTCAGGGGGCATGAGGTGGTTGTAGTCATGCCAGAGGTGAGTTGGCAACTGGGAAAATCACTGAATTGCACAGTGAAGACTTACTCAACC
TCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCCSATGCTCAATGGAAAGCACAAGTACGAAGTWTRTTTTCTCTATTWMTGAGTTCAT
CCAATGGTTTTTTTRACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGCRGTGTT
TCTKGATCCTTTTGATRCCTGTGGCTTAATTGTTGCYAAATATTTCTCCCTCCCCTCTGTGGTCTTCRCCAGGGGAATAGSTTGCCACTATCTTGAAGAA
GGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCAAGGAGAGAGTAYGGAACCACATCRTGC
ACTTGGAGGAMCATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACMCCTGTCACRGCATATGATCTCTACAG
CCACACATCAATTTGGTTGTTGCGAACAGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAATATGATCTTCATTGGTGGTATCAACTGCCATCAG
GGAAAGCCATTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAG
AGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACAC
GATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATA
TGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTC
TGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGA
CCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACC
TRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGA
AATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGT
CATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAAT
TCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTT
TCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGC
CCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCT
TCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATAT
GATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATA
AAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1068):
MARTGWTSPIPLCVSLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGKSLNCTVKTYSTSYTLEDLDREFMDFADAQWKA
QVRSLFSLFLSSSNGFFNLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDACGLIVAKYFSLPSVVFARGIACHYLEEGAQCPAPLSYVPRILLGFSDA
MTFKERVRNHIMHLEEHLFCQYFSKNALEIASEILQTPVTAYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIV
VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA
FITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6388):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1046
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 328, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6389):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1045
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 328, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6390):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1059
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 332, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6391):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1442
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 460, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6392):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1503
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 480, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6393):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1252
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 397, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6394):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1517
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 485, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6395):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1585
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 508, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6396):
GGTGAGTTGGCAACTGGGAAAATCACTGAATTGCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCC
S
ATGCTCAATGGAAAGCACAAGTACGAAGTTTGTTTTCTCTATTTCTGAGTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTT
Celera SNP ID:            hCV11473118
SNP Position Transcript:  346
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 95, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:6397):
TTGCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCCGATGCTCAATGGAAAGCACAAGTACGAAGT
W
TGTTTTCTCTATTTCTGAGTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAA
Celera SNP ID:            hCV11473119
SNP Position Transcript:  376
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 105, (M,ATG)   (L,TTG)      



Context             (SEQ ID NO:6398):
AGTTCTTTTGATGCGGTGTTTCTTGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATAG
S
TTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCAAGGAGAGA
Celera SNP ID:            hCV11742072
SNP Position Transcript:  581
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,5)   total(G,1|C,5) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 173, (A,GCT)   (G,GGT)      



Context             (SEQ ID NO:6399):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1659
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1068, None   



Context             (SEQ ID NO:6400):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1995
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1068, None   



Context             (SEQ ID NO:6401):
CCTACTGTATCATAGCAGCTTAGAATCCCAGCTGCTGGCTCGGGCTGCAGTTCTCTCATGGCTCGCACAGGGTGGACCAGCCCCATTCCCCTATGTGTTT
S
TCTGCTGCTGACCTGTGGCTTTGCTGAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGTCACTGGTTCACCATGCAGTCGGTGGTGGAGAAACTT
Celera SNP ID:            hCV27155317
SNP Position Transcript:  107
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 15, (S,TCT)   (C,TGT)      



Context             (SEQ ID NO:6402):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2096
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1068, None   



Context             (SEQ ID NO:6403):
GTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGC
R
GTGTTTCTTGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATAGCTTGCCACTATCTTG
Celera SNP ID:            hCV27155318
SNP Position Transcript:  495
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 144, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:6404):
ATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGCGGTGTTTCT
K
GATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATAGCTTGCCACTATCTTGAAGAAGGTG
Celera SNP ID:            hCV27155319
SNP Position Transcript:  504
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 147, (L,CTG)   (L,CTT)      



Context             (SEQ ID NO:6405):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1181
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 373, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6406):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1060
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 333, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6407):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1124
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 354, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6408):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1184
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 374, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6409):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1123
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 354, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6410):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1541
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 493, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6411):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1153
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 364, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6412):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1156
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 365, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6413):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1336
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 425, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6414):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1363
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 434, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6415):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1482
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 473, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6416):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1867
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1068, None



Context             (SEQ ID NO:6417):
GCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCCGATGCTCAATGGAAAGCACAAGTACGAAGTTT
R
TTTTCTCTATTTCTGAGTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGG
Celera SNP ID:            hCV11473120
SNP Position Transcript:  378
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 105, (L,TTA)   (L,TTG)      



Context             (SEQ ID NO:6418):
CTTACTCAACCTCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCCGATGCTCAATGGAAAGCACAAGTACGAAGTTTGTTTTCTCTATT
W
CTGAGTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTG
Celera SNP ID:            hCV11473121
SNP Position Transcript:  390
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 109, (L,TTA)   (F,TTT)      



Context             (SEQ ID NO:6419):
TTACTCAACCTCATACACTCTGGAGGATCTGGACCGGGAATTCATGGATTTCGCCGATGCTCAATGGAAAGCACAAGTACGAAGTTTGTTTTCTCTATTT
M
TGAGTTCATCCAATGGTTTTTTTAACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGA
Celera SNP ID:            hCV11473122
SNP Position Transcript:  391
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 110, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6420):
GGATCTGGACCGGGAATTCATGGATTTCGCCGATGCTCAATGGAAAGCACAAGTACGAAGTTTGTTTTCTCTATTTCTGAGTTCATCCAATGGTTTTTTT
R
ACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGCGGTGTTTCTTGATCCTTTTGA
Celera SNP ID:            hCV11473123
SNP Position Transcript:  415
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 118, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:6421):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1178
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 372, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6422):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1474
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 471, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6423):
CTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGCGGTGTTTCTTGATCCTTTTGAT
R
CCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATAGCTTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGC
Celera SNP ID:            hCV27155320
SNP Position Transcript:  517
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 152, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6424):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1255
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 398, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6425):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1510
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 483, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6426):
GGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGCGGTGTTTCTTGATCCTTTTGATGCCTGTGGCTTAATTGTTGC
Y
AAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATAGCTTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCA
Celera SNP ID:            hCV27155321
SNP Position Transcript:  537
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 158, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:6427):
ATACTTAAAGGAGAGTTCTTTTGATGCGGTGTTTCTTGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTC
R
CCAGGGGAATAGCTTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGAC
Celera SNP ID:            hCV27155322
SNP Position Transcript:  568
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 169, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6428):
CCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCAAGGAGAGAGTA
Y
GGAACCACATCATGCACTTGGAGGAACATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACACCTGTCACAGC
Celera SNP ID:            hCV27155323
SNP Position Transcript:  685
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 208, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6429):
AGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCAAGGAGAGAGTACGGAACCACATC
R
TGCACTTGGAGGAACATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACACCTGTCACAGCATATGATCTCTA
Celera SNP ID:            hCV27155324
SNP Position Transcript:  697
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 212, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:6430):
GCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCAAGGAGAGAGTACGGAACCACATCATGCACTTGGAGGA
M
CATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACACCTGTCACAGCATATGATCTCTACAGCCACACATCAA
Celera SNP ID:            hCV27155325
SNP Position Transcript:  711
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 216, (E,GAA)   (D,GAC)      



Context             (SEQ ID NO:6431):
AGGAGAGAGTACGGAACCACATCATGCACTTGGAGGAACATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAAC
M
CCTGTCACAGCATATGATCTCTACAGCCACACATCAATTTGGTTGTTGCGAACAGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAATATGATCT
Celera SNP ID:            hCV27155326
SNP Position Transcript:  774
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 237, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:6432):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 480, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6433):
TACGGAACCACATCATGCACTTGGAGGAACATTTATTTTGCCAGTATTTTTCCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACACCTGTCAC
R
GCATATGATCTCTACAGCCACACATCAATTTGGTTGTTGCGAACAGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAATATGATCTTCATTGGTG
Celera SNP ID:            hCV27155327
SNP Position Transcript:  783
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1068, 240, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:6434):
ATTGGTGGTATCAACTGCCATCAGGGAAAGCCATTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  977
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 305, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6435):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1197
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1068, 378, (S,AGC)   (R,AGG)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344778 - 206000045182865
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910022 - 209000072009197
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39215650..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:372):
TGGRGTCAGGTTTTGTGCTGGTATTTCTCCCACCTACTGTATCATAGGAGCTTAGATTCCCAGCTGCTTGCTCTCAGCTGCAGTTCTCTGATGGCTTGCA
CAGGGTGGACCAGCCCCCTTCCTCTATGTGTGTGTCTGCTGCTGACCTGTGGCTTTGCCGAGGCAGGGAAGCTACTGGTAGTGCCCAYGGATGGGAGCCA
CTGGTTCACCATGAGGTCGGTGGTGGAGAAACTCATTCTCAGGGGGCATGAGGTGGTTGTAGTCATGCCAGAGGTGAGTTGGCAACTGGGAAGATCACTG
AATTGCACAGTGAAGACTTATTCAACTTCATATACCCTGGAGGATCTGGACCGGGAGTTCAAGGCTTTTGCCCATGCTCAATGGAAAGCACAAGTACGAA
GTATATATTCTCTATTAATGGGTTCATACAATGACATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAAGACAAAAAATTAGTAGAATACTT
AAAGGAGAGTTCTTTTGATGCAGTGTTTCTCGATCCTTTTGATAACTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCCGTGGTCTTCGCCAGG
GGAATACTTTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGAATTCTCTTAGGGTTCTCAGATGCCATGACTTTCA
AGGAGAGAGTACGGAACCACATCATGCACTTGGAGGAACATTTATTATGCCACCGTTTTTTCAAAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAAC
ACCTGTTACGGAGTATGATCTCTACAGCCACACATCAATTTGGTTGTTGCGAACGGACTTTGTTTTGGACTATCCCAAACCCGWGATGCCCAACATGATC
TTCATTGGTGGTATCAACTGCCATCAGGGAAAGCCGTTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTT
TGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGTACACTGGAAC
CCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTATCACCCATGCT
GGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGCATGGAGACTA
AGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACWAGGAGAACAT
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGGCGCGCCACAC
MTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCCTTCATCACCT
TTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGGGTGGGAAATA
AGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATT
AATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCYGGTGTC
TTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGC
GGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATA
ATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATG
GCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGC
TTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAA
ATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1069):
MACTGWTSPLPLCVCLLLTCGFAEAGKLLVVPMDGSHWFTMRSVVEKLILRGHEVVVVMPEVSWQLGRSLNCTVKTYSTSYTLEDLDREFKAFAHAQWKA
QVRSIYSLLMGSYNDIFDLFFSNCRSLFKDKKLVEYLKESSFDAVFLDPFDNCGLIVAKYFSLPSVVFARGILCHYLEEGAQCPAPLSYVPRILLGFSDA
MTFKERVRNHIMHLEEHLLCHRFFKNALEIASEILQTPVTEYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIV
VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA
FITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6436):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1073
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 328, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6437):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1072
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 328, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6438):
TGG
R
GTCAGGTTTTGTGCTGGTATTTCTCCCACCTACTGTATCATAGGAGCTTAGATTCCCAGCTGCTTGCTCTCAGCTGCAGTTCTCTGATGGCTTGCACAGG
Celera SNP ID:            hCV27847057
SNP Position Transcript:  4
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,31)   total(A,1|G,51)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1069, None



Context             (SEQ ID NO:6439):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1086
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 332, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6440):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1469
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 460, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6441):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1530
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 480, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6442):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1279
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 397, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6443):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1544
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 485, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6444):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1612
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 508, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6445):
TCTGAAATTCTCCAAACACCTGTTACGGAGTATGATCTCTACAGCCACACATCAATTTGGTTGTTGCGAACGGACTTTGTTTTGGACTATCCCAAACCCG
W
GATGCCCAACATGATCTTCATTGGTGGTATCAACTGCCATCAGGGAAAGCCGTTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGA
Celera SNP ID:            hCV28026196
SNP Position Transcript:  884
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 265, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6446):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1686
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1069, None   



Context             (SEQ ID NO:6447):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  2022
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1069, None   



Context             (SEQ ID NO:6448):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2123
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1069, None   



Context             (SEQ ID NO:6449):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1087
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 333, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6450):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1208
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 373, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6451):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1151
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 354, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6452):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1211
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 374, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6453):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1150
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 354, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6454):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1568
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 493, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6455):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1180
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 364, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6456):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1183
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 365, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6457):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1363
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 425, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6458):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1390
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 434, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6459):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1509
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1069, 473, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6460):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1894
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1069, None



Context             (SEQ ID NO:6461):
CTGATGGCTTGCACAGGGTGGACCAGCCCCCTTCCTCTATGTGTGTGTCTGCTGCTGACCTGTGGCTTTGCCGAGGCAGGGAAGCTACTGGTAGTGCCCA
Y
GGATGGGAGCCACTGGTTCACCATGAGGTCGGTGGTGGAGAAACTCATTCTCAGGGGGCATGAGGTGGTTGTAGTCATGCCAGAGGTGAGTTGGCAACTG
Celera SNP ID:            hCV25963310
SNP Position Transcript:  188
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 33, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:6462):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1501
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 471, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6463):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1205
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 372, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6464):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1537
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 483, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6465):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 398, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6466):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1529
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 480, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6467):
ATTGGTGGTATCAACTGCCATCAGGGAAAGCCGTTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  1004
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 305, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6468):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1224
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1069, 378, (S,AGC)   (R,AGG)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344779 - 206000045182891
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910019 - 209000072009190
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39236706..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:373):
GAAAAGCAGTGGTTAGTTTAGGGAAAATACCTAGGAGCCCTGTGATTTGGAGAGTGAAAACTCTTTATTACCGTTGTTACTTTAACTCTTTCCAGGATGG
CCTGCCTCCTTCGCKCATTTCAGAGAATTTCTGCAGGGGTTTTCTTCTTAGCWCTTTGGKGCATGGTTGTAGGTGACAAGCTGCTGGTGGTCCCTCAGGA
CGGAAGCCACTGGCTTAGTATGAAGGATATAGTTGAGGTTCTCAGTGACCGGGGTCATGAGATTGTAGTGGTGGTGCCTGAAGTTAATTTGCTTTTGAAA
GAATMCAAATACTACACAAGAAAAATCTATCCAGTGCCGTATGACCAAGAAGAGCTGAAGAACCGTTACCAATCATTTGGAAACAATCACTTTGCTGAGC
GATCATTCCTRACTGCTCCTCAGACAGAGTACAGGAATAACATGATTGTTATTGGCCTGTACTTCATCAACTGCCAGAGCCTCCTGCAGGACAGGGACAC
CCTGAACTTCTTTAAGGAGAGCAAGTTTGATGCTCTTTTCACAGACCCAGCCTTACCCTGTGGGGTGATCCTGGCTGAGTATTTGGGCCTACCATCTGTG
TACCTCTTCAGGGGTTTTCCGTGTTCCCTGGAGCATRCATTCAGCAGMAGCCCAGACCCTGTGTCCTACATTCCCAGGTGCTACACAAAGTTTTCAGACC
ACATGACTTTTTCCCAACGAGTKGCCAACTTCCTTGTTAATTTGTTGGAGCCCTATCTATTTTATTGTCTGTTTTCAAAGTATGAAGAACTCGCATCAGC
TGTCCTCAAGAGAGATGTGGATATAATCACCTTATATCAGAAGGTCTCTGTTTGGCTGTTAAGATATGACTTTGTGCTTGAATATCCTAGGCCGGTCATG
CCCAACATGGTCTTCATTGGAGGTATCAACTGTAAGAAGAGGAAAGACTTGTCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTG
TGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYG
GTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTT
ATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGC
GCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTA
CWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAG
GGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGG
CCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGT
GGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATAC
TTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCC
CCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCT
GTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGAT
CCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGA
AATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAA
GATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTAC
AACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1070):
MACLLRSFQRISAGVFFLALWGMVVGDKLLVVPQDGSHWLSMKDIVEVLSDRGHEIVVVVPEVNLLLKESKYYTRKIYPVPYDQEELKNRYQSFGNNHFA
ERSFLTAPQTEYRNNMIVIGLYFINCQSLLQDRDTLNFFKESKFDALFTDPALPCGVILAEYLGLPSVYLFRGFPCSLEHTFSRSPDPVSYIPRCYTKFS
DHMTFSQRVANFLVNLLEPYLFYCLFSKYEELASAVLKRDVDIITLYQKVSVWLLRYDFVLEYPRPVMPNMVFIGGINCKKRKDLSQEFEAYINASGEHG
IVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNA
KRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLT
VAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6469):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1085
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 330, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6470):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1084
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 330, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6471):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1098
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 334, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6472):
ACTACACAAGAAAAATCTATCCAGTGCCGTATGACCAAGAAGAGCTGAAGAACCGTTACCAATCATTTGGAAACAATCACTTTGCTGAGCGATCATTCCT
R
ACTGCTCCTCAGACAGAGTACAGGAATAACATGATTGTTATTGGCCTGTACTTCATCAACTGCCAGAGCCTCCTGCAGGACAGGGACACCCTGAACTTCT
Celera SNP ID:            hCV1173641
SNP Position Transcript:  411
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,7)   caucasian(A,1|G,3)   total(A,20|G,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 105, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,9)   caucasian(A,26|G,10)   total(A,55|G,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 105, (L,CTA)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,9)      total(G,5|A,9) ;no_pop(A,-|G,-)   Caucasian(G,29|A,53)   African-American(G,25|A,49)   no_pop(A,-|G,-)   Asians(G,32|A,52)   total(G,86|A,154)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 105, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:6473):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1481
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 462, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6474):
GTTCCCTGGAGCATACATTCAGCAGAAGCCCAGACCCTGTGTCCTACATTCCCAGGTGCTACACAAAGTTTTCAGACCACATGACTTTTTCCCAACGAGT
K
GCCAACTTCCTTGTTAATTTGTTGGAGCCCTATCTATTTTATTGTCTGTTTTCAAAGTATGAAGAACTCGCATCAGCTGTCCTCAAGAGAGATGTGGATA
Celera SNP ID:            hCV25972736
SNP Position Transcript:  723
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,38)   total(G,72|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 209, (V,GTG)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,40)   total(G,75|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 209, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:6475):
CAGCCTTACCCTGTGGGGTGATCCTGGCTGAGTATTTGGGCCTACCATCTGTGTACCTCTTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG
M
AGCCCAGACCCTGTGTCCTACATTCCCAGGTGCTACACAAAGTTTTCAGACCACATGACTTTTTCCCAACGAGTGGCCAACTTCCTTGTTAATTTGTTGG
Celera SNP ID:            hCV1173642
SNP Position Transcript:  648
SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,7)   caucasian(A,27|C,11)   total(A,58|C,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 184, (R,AGA)   (S,AGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,6|A,7)      total(A,7|C,6) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 184, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:6476):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1542
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 482, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6477):
ACTCTTTATTACCGTTGTTACTTTAACTCTTTCCAGGATGGCCTGCCTCCTTCGCTCATTTCAGAGAATTTCTGCAGGGGTTTTCTTCTTAGCACTTTGG
K
GCATGGTTGTAGGTGACAAGCTGCTGGTGGTCCCTCAGGACGGAAGCCACTGGCTTAGTATGAAGGATATAGTTGAGGTTCTCAGTGACCGGGGTCATGA
Celera SNP ID:            hCV25965732
SNP Position Transcript:  160
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 22, (G,GGC)   (C,TGC)   



Context             (SEQ ID NO:6478):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1291
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 399, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6479):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1556
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 487, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6480):
TTTCACAGACCCAGCCTTACCCTGTGGGGTGATCCTGGCTGAGTATTTGGGCCTACCATCTGTGTACCTCTTCAGGGGTTTTCCGTGTTCCCTGGAGCAT
R
CATTCAGCAGAAGCCCAGACCCTGTGTCCTACATTCCCAGGTGCTACACAAAGTTTTCAGACCACATGACTTTTTCCCAACGAGTGGCCAACTTCCTTGT
Celera SNP ID:            hCV15868110
SNP Position Transcript:  637
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,27|G,13)   total(A,60|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 181, (T,ACA)   (A,GCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,7)      total(G,5|A,7) ;no_pop(A,-|G,-)   JBIC-allele(G,364|A,1117)   total(G,364|A,1117) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 181, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:6481):
AGTTTAGGGAAAATACCTAGGAGCCCTGTGATTTGGAGAGTGAAAACTCTTTATTACCGTTGTTACTTTAACTCTTTCCAGGATGGCCTGCCTCCTTCGC
K
CATTTCAGAGAATTTCTGCAGGGGTTTTCTTCTTAGCACTTTGGGGCATGGTTGTAGGTGACAAGCTGCTGGTGGTCCCTCAGGACGGAAGCCACTGGCT
Celera SNP ID:            hCV1432204
SNP Position Transcript:  115
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,29)   caucasian(G,14|T,26)   total(G,23|T,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 7, (A,GCA)   (S,TCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|T,11)      total(G,4|T,11) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 7, (A,GCA)   (S,TCA)      



Context             (SEQ ID NO:6482):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1624
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 510, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6483):
AGTGAAAACTCTTTATTACCGTTGTTACTTTAACTCTTTCCAGGATGGCCTGCCTCCTTCGCTCATTTCAGAGAATTTCTGCAGGGGTTTTCTTCTTAGC
W
CTTTGGGGCATGGTTGTAGGTGACAAGCTGCTGGTGGTCCCTCAGGACGGAAGCCACTGGCTTAGTATGAAGGATATAGTTGAGGTTCTCAGTGACCGGG
Celera SNP ID:            hCV8739306
SNP Position Transcript:  153
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 19, (A,GCA)   (A,GCT)      



Context             (SEQ ID NO:6484):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1698
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1070, None   



Context             (SEQ ID NO:6485):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  2034
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1070, None   



Context             (SEQ ID NO:6486):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2135
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1070, None   



Context             (SEQ ID NO:6487):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1220
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 375, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6488):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1099
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 335, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6489):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1163
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 356, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6490):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1223
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 376, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6491):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1162
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 356, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6492):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1192
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 366, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6493):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1580
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 495, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6494):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1195
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 367, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6495):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1375
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 427, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6496):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1402
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 436, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6497):
AGCCACTGGCTTAGTATGAAGGATATAGTTGAGGTTCTCAGTGACCGGGGTCATGAGATTGTAGTGGTGGTGCCTGAAGTTAATTTGCTTTTGAAAGAAT
M
CAAATACTACACAAGAAAAATCTATCCAGTGCCGTATGACCAAGAAGAGCTGAAGAACCGTTACCAATCATTTGGAAACAATCACTTTGCTGAGCGATCA
Celera SNP ID:            hCV8739299
SNP Position Transcript:  305
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 70, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:6498):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1521
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1070, 475, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6499):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1906
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1070, None



Context             (SEQ ID NO:6500):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1217
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 374, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6501):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1513
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 473, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6502):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1549
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 485, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6503):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1294
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 400, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6504):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1541
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 482, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6505):
ATTGGAGGTATCAACTGTAAGAAGAGGAAAGACTTGTCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  1016
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 307, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6506):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1236
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1070, 380, (S,AGC)   (R,AGG)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344785 - 206000045182820
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910024 - 209000072009201
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39180249..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:374):
GTACTTCTTCCGCCTACTGTATCATAGCAGCTTAGAATCCCAGCTGCTGGCTCGGGCTGCAGTTCTCTCATGGCTCGCGCAGGGTGGACCAGCCCCGTTC
CTTTATGTGTGTGTCTACTGCTGACCTGTGGCTTTGCCGAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGTCACTGGTTCACCATGCARTCGGT
GGTGGAGAAACTTATCCTCAGGGGGCATGAGGTGGTTGTAGTCATGCCAGAGGTGAGTTGGCAACTGGAAAGATCACTGAATTGCACAGTGAAGACTTAC
TCAACCTCGTACACTCTGGAAGATCAGAACCGGGAATTCATGGTTTTCGCCCATGCTCAATGGAAAGCACAGGCACAAAGTATATTTTCTCTATTAATGA
GTTCATCCAGTGGTTTTCTTGACTTATTTTTTTCGCATTGCAGGAGTTTGTTTAATGACCGAAAATTAGTAGAATACTTAAAGGAGAGTTCTTTTGATGC
AGTGTTTCTGGATCCTTTTGATACCTGTGGCTTAATTGTTGCTAAATATTTCTCCCTCCCCTCTGTGGTCTTCACCAGGGGAATATTTTGCCACCATCTT
GAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAATGATCTCTTAGGGTTCTCAGAYGCCATGACTTTCAAGGAGAGAGTATGGAACCACA
TCGTGCACTTGGAGGACCATTTATTTTGCCAGTATCTTTTTAGAAATGCCCTAGAAATAGCYTCTGAAATTCTCCAAACCCCTGTCACGGCATATGATMT
CTACAGTCACACATCAATTTGGTTGTTGYGAACGGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAACATGATCTTCATTGGTGGTATCAACTGT
CATCAGGGAAAGCCATTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAA
TTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAA
CAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAA
AGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGA
ATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCA
CAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGAC
CTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCT
ACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTC
CCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTA
AAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGC
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
SGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGT
CSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACA
GCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAAT
TTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATT
CTATTT

Protein Sequence    (SEQ ID NO:1071):
MARAGWTSPVPLCVCLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLERSLNCTVKTYSTSYTLEDQNREFMVFAHAQWKA
QAQSIFSLLMSSSSGFLDLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDTCGLIVAKYFSLPSVVFTRGIFCHHLEEGAQCPAPLSYVPNDLLGFSDA
MTFKERVWNHIVHLEDHLFCQYLFRNALEIASEILQTPVTAYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIV
VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA
FITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6507):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1547
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 493, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6508):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1159
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 364, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6509):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1162
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 365, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6510):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1342
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 425, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6511):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1052
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 328, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6512):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1369
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 434, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6513):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1051
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 328, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6514):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1065
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 332, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6515):
CCGTTCCTTTATGTGTGTGTCTACTGCTGACCTGTGGCTTTGCCGAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGTCACTGGTTCACCATGCA
R
TCGGTGGTGGAGAAACTTATCCTCAGGGGGCATGAGGTGGTTGTAGTCATGCCAGAGGTGAGTTGGCAACTGGAAAGATCACTGAATTGCACAGTGAAGA
Celera SNP ID:            hCV25751284
SNP Position Transcript:  195
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,35)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 42, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 42, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:6516):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1448
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 460, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6517):
CAGATGCCATGACTTTCAAGGAGAGAGTATGGAACCACATCGTGCACTTGGAGGACCATTTATTTTGCCAGTATCTTTTTAGAAATGCCCTAGAAATAGC
Y
TCTGAAATTCTCCAAACCCCTGTCACGGCATATGATCTCTACAGTCACACATCAATTTGGTTGTTGCGAACGGACTTTGTTTTGGACTATCCCAAACCCG
Celera SNP ID:            hCV25758491
SNP Position Transcript:  762
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,31|T,5)   total(C,61|T,9)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 231, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,4)   caucasian(C,27|T,5)   total(C,41|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 231, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:6518):
CATCGTGCACTTGGAGGACCATTTATTTTGCCAGTATCTTTTTAGAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACCCCTGTCACGGCATATGAT
M
TCTACAGTCACACATCAATTTGGTTGTTGCGAACGGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAACATGATCTTCATTGGTGGTATCAACTG
Celera SNP ID:            hCV25754039
SNP Position Transcript:  799
SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,34)   caucasian(C,38)   total(A,2|C,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 244, (I,ATC)   (L,CTC)   



Context             (SEQ ID NO:6519):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1509
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 480, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6520):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1488
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 473, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6521):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1873
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1071, None



Context             (SEQ ID NO:6522):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1258
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 397, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6523):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1523
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 485, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6524):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1591
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 508, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6525):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1480
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 471, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6526):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1184
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 372, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6527):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1516
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 483, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6528):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1261
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 398, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6529):
CCAGTATCTTTTTAGAAATGCCCTAGAAATAGCCTCTGAAATTCTCCAAACCCCTGTCACGGCATATGATCTCTACAGTCACACATCAATTTGGTTGTTG
Y
GAACGGACTTTGTTTTGGACTATCCCAAACCCGTGATGCCCAACATGATCTTCATTGGTGGTATCAACTGTCATCAGGGAAAGCCATTGCCTATGGAATT
Celera SNP ID:            hCV25754635
SNP Position Transcript:  829
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 254, (R,CGA)   (X,TGA)   



Context             (SEQ ID NO:6530):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1665
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1071, None   



Context             (SEQ ID NO:6531):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  2001
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1071, None   



Context             (SEQ ID NO:6532):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1508
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 480, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6533):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2102
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1071, None   



Context             (SEQ ID NO:6534):
TGGTCTTCACCAGGGGAATATTTTGCCACCATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAATGATCTCTTAGGGTTCTCAGA
Y
GCCATGACTTTCAAGGAGAGAGTATGGAACCACATCGTGCACTTGGAGGACCATTTATTTTGCCAGTATCTTTTTAGAAATGCCCTAGAAATAGCCTCTG
Celera SNP ID:            hCV25759233
SNP Position Transcript:  666
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,38)   total(C,2|T,70)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 199, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1071, 199, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:6535):
ATTGGTGGTATCAACTGTCATCAGGGAAAGCCATTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  983
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 305, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6536):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1066
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 333, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6537):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1187
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 373, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6538):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1203
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 378, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:6539):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1130
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 354, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6540):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1190
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 374, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6541):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1129
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1071, 354, (Q,CAA)   (X,TAA)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344781 - 206000045182867
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910021 - 209000072009195
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39272921..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:375):
ATGGCCACAGGACTCCAGGTTCCCCTGCCGYGGCTGGCCACAGGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGARAGTGGAAAGGTGTTGGTGG
TGCCCATTGATGGCAGCCACTGGCTCAGCATGCGGGAGGYCTTGCGGGAGCTCCATGCCAGAGGCCACCAGGCAGTGGTCCTCACCCCAGAGGTGAATAT
GCACATCAAAGAAGAGAACTTTTTCACCCTGACAACCTATGCCATTTCGTGGACCCAGGATGAATTTGATCGCCATGTGCTGGGCCACACTCAACTGTAC
TTTGAAACAGAACATTTTCTGAAGAAATTTTTCAGAAGTATGGCAATGTTGAACAATATGTCTTTGGTCTATCATAGGTCTTGTGTGGAGCTACTACATA
ATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTGCGCGGCRGTGCTGGCTAAGTACCTGTCGAT
TCCTACTGTGTTTTTTTTGAGGAACATTCCATGTGATTTAGACTTTAAGGGCACACAGTGTCCAAACCCTTCCTCCTATATTCCTAGATTACTAACAACC
AATTCAGACCACATGACATTCATGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACATTTGCCATGCTKTTTCTGCTCCTTATGCAAGCC
TTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATATTCTCAGTCATGCATCTGTGTGGCTGTTCCGAGGGGACTTTGTGATGGACTACCCCAG
GCCAATCRTGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACAGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAA
CATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAG
TCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGAC
CSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
RATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATG
ACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGAT
GAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTG
CTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCC
ATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATT
AAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATAT
GTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGA
AACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGT
TGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGA
GTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTG
TATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGA
TGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1072):
MATGLQVPLPWLATGLLLLLSVQPWAESGKVLVVPIDGSHWLSMREVLRELHARGHQAVVLTPEVNMHIKEENFFTLTTYAISWTQDEFDRHVLGHTQLY
FETEHFLKKFFRSMAMLNNMSLVYHRSCVELLHNEALIRHLNATSFDVVLTDPVNLCAAVLAKYLSIPTVFFLRNIPCDLDFKGTQCPNPSSYIPRLLTT
NSDHMTFMQRVKNMLYPLALSYICHAFSAPYASLASELFQREVSVVDILSHASVWLFRGDFVMDYPRPIMPNMVFIGGINCANRKPLSQEFEAYINASGE
HGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMD
NAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVV
LTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6542):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  995
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 332, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6543):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  994
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 332, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6544):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1008
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 336, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6545):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1391
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 464, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6546):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1452
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 484, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6547):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1201
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 401, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6548):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1466
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 489, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6549):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1534
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 512, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6550):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1608
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1072, None   



Context             (SEQ ID NO:6551):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1944
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1072, None   



Context             (SEQ ID NO:6552):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2045
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1072, None   



Context             (SEQ ID NO:6553):
ACAGGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCATTGATGGCAGCCACTGGCTCAGCATGCGGGAGG
Y
CTTGCGGGAGCTCCATGCCAGAGGCCACCAGGCAGTGGTCCTCACCCCAGAGGTGAATATGCACATCAAAGAAGAGAACTTTTTCACCCTGACAACCTAT
Celera SNP ID:            hCV1432158
SNP Position Transcript:  140
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,5)   total(C,3|T,5) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 47, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6554):
ATGGCCACAGGACTCCAGGTTCCCCTGCCGTGGCTGGCCACAGGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGA
R
AGTGGAAAGGTGTTGGTGGTGCCCATTGATGGCAGCCACTGGCTCAGCATGCGGGAGGTCTTGCGGGAGCTCCATGCCAGAGGCCACCAGGCAGTGGTCC
Celera SNP ID:            hCV1432159
SNP Position Transcript:  81
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,5)   total(G,5|A,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1072, 27, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:6555):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1009
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 337, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6556):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1130
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 377, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6557):
TATTCCTAGATTACTAACAACCAATTCAGACCACATGACATTCATGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACATTTGCCATGCT
K
TTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATATTCTCAGTCATGCATCTGTGTGGCTGTTCCGAGGGGA
Celera SNP ID:            hCV25956430
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,38)   total(G,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 227, (V,GTT)   (F,TTT)   



Context             (SEQ ID NO:6558):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1073
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 358, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6559):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1133
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 378, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6560):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1072
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 358, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6561):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1102
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 368, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6562):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1490
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 497, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6563):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1105
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 369, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6564):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1285
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 429, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6565):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1312
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 438, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6566):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1431
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1072, 477, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6567):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1816
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1072, None



Context             (SEQ ID NO:6568):
TGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATATTCTCAGTCATGCATCTGTGTGGCTGTTCCGAGGGGACTTTGTGATGGACTACCCCAGGCCAATC
R
TGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACAGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAAT
Celera SNP ID:            hCV25973676
SNP Position Transcript:  808
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,37|G,1)   total(A,70|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 270, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:6569):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1127
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 376, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6570):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1423
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 475, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6571):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1204
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 402, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6572):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1459
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 487, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6573):
ATGGCCACAGGACTCCAGGTTCCCCTGCCG
Y
GGCTGGCCACAGGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGAAAGGTGTTGGTGGTGCCCATTGATGGCAGCCACTGGCTCAGCAT
Celera SNP ID:            hCV1432160
SNP Position Transcript:  31
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 11, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6574):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1451
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 484, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6575):
GGTCTTGTGTGGAGCTACTACATAATGAGGCCCTGATCAGGCACCTGAATGCTACTTCCTTTGATGTGGTTTTAACAGACCCCGTTAACCTCTGCGCGGC
R
GTGCTGGCTAAGTACCTGTCGATTCCTACTGTGTTTTTTTTGAGGAACATTCCATGTGATTTAGACTTTAAGGGCACACAGTGTCCAAACCCTTCCTCCT
Celera SNP ID:            hCV11742263
SNP Position Transcript:  477
SNP Source:               Celera
Population(Allele,Count): no_pop(G,5|A,6)   total(G,5|A,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1072, 159, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:6576):
ATTGGGGGCATCAACTGTGCCAACAGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  926
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 309, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6577):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1146
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1072, 382, (S,AGC)   (R,AGG)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2344782 - 206000045182876
Public Transcript Accession: NM_021027
Celera Protein:              hCP1910026 - 209000072009207
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39225744..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:376):
ATGGCTCGTGCAGGGTGGACTGGCCTCCTTCCMCTATATGTGTGTCTACTGCTGACCTGTGGCTTTGCCAAGGCAGGGAAGCTGCTGGTAGTGCCCATGG
ATGGGAGYCACTGGTTCACCATGCAGTCGGTGGTGGAGAAACTCATCCTCAGGGGGCATGAGGTGGTSGTAGTCATGCCAGAGGTGAGTTGGCAACTGGG
AAGATCACTGAATTGCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCAGGACCGGGARTTCATGGTTTTTGCCGATGCTCGCTGGACGGCA
CCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAATRGTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAKGACMRAAAATTAG
TAGAATACTTAAAGGAGAGTTSTTTTGATGCAGTGTTTCTCGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGT
CTTCGCCAGGGGAATATTTTGCCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGACTTCTCTTAGGGTTCTCAGACGCC
ATGACTTTCAAGGAGAGAGTAYGGAACCACATCATGCACTTGGAGGAACATTTATTTTGCCCCTATTTTTTCAAAAATGTCTTAGAAATAGCCTCTGAAA
TTCTCCAAACCCCTGTCACGGCATATGATCTCTACAGCCACACATCAATTTGGTTRTTGCGAACTGACTTTGTTTTGGAGTATCCCAAACCCGTGATGCC
CAATATGATCTTCATTGGTGGTATCAACTGTCATCAGGGAAAGCCAGTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTG
GTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGT
ACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTAT
CACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGC
ATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACW
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGG
CGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCC
TTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGG
GTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTT
TGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCC
CTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGT
TTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCC
TTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAA
TGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGA
TAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAA
CTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1073):
MARAGWTGLLPLYVCLLLTCGFAKAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGRSLNCTVKTYSTSYTLEDQDREFMVFADARWTA
PLRSAFSLLTSSSNGIFDLFFSNCRSLFKDKKLVEYLKESCFDAVFLDPFDACGLIVAKYFSLPSVVFARGIFCHYLEEGAQCPAPLSYVPRLLLGFSDA
MTFKERVWNHIMHLEEHLFCPYFFKNVLEIASEILQTPVTAYDLYSHTSIWLLRTDFVLEYPKPVMPNMIFIGGINCHQGKPVPMEFEAYINASGEHGIV
VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA
FITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6578):
CTCGCTGGACGGCACCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAATGGTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAA
K
GACAAAAAATTAGTAGAATACTTAAAGGAGAGTTGTTTTGATGCAGTGTTTCTCGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCC
Celera SNP ID:            hCV287263
SNP Position Transcript:  387
SNP Source:               Applera
Population(Allele,Count): african american(G,20|T,18)   caucasian(G,18|T,14)   total(G,38|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 129, (K,AAG)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,27)   caucasian(G,4|T,18)   total(G,7|T,45)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 129, (K,AAG)   (N,AAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|G,6)   total(G,6|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 129, (K,AAG)   (N,AAT)      



Context             (SEQ ID NO:6579):
ATGGCTCGTGCAGGGTGGACTGGCCTCCTTCC
M
CTATATGTGTGTCTACTGCTGACCTGTGGCTTTGCCAAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGCCACTGGTTCACCATGCAGTCGGTGG
Celera SNP ID:            hCV287264
SNP Position Transcript:  33
SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,30)   caucasian(A,17|C,17)   total(A,25|C,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 11, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,4)      total(A,4|C,3) ;no_pop(A,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 11, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:6580):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  983
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 328, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6581):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  982
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 328, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6582):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  996
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 332, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6583):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1379
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 460, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6584):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1440
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 480, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6585):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1189
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 397, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6586):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1454
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 485, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6587):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1522
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 508, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6588):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1596
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1073, None   



Context             (SEQ ID NO:6589):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1932
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1073, None   



Context             (SEQ ID NO:6590):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2033
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1073, None   



Context             (SEQ ID NO:6591):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  997
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 333, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6592):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1118
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 373, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6593):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1061
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 354, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6594):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1121
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 374, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6595):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1060
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 354, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6596):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1090
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 364, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6597):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1478
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 493, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6598):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1093
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 365, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6599):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1273
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 425, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6600):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1300
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 434, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6601):
TCGTAGTCATGCCAGAGGTGAGTTGGCAACTGGGAAGATCACTGAATTGCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCAGGACCGGGA
R
TTCATGGTTTTTGCCGATGCTCGCTGGACGGCACCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAATGGTATTTTTGACTTATTTTTTTCAA
Celera SNP ID:            hCV25969303
SNP Position Transcript:  267
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,26)   caucasian(A,6|G,32)   total(A,12|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 89, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:6602):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1419
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 473, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6603):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1804
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1073, None



Context             (SEQ ID NO:6604):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1411
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 471, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6605):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1115
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 372, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6606):
CACTCTGGAGGATCAGGACCGGGAGTTCATGGTTTTTGCCGATGCTCGCTGGACGGCACCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAAT
R
GTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAGGACAAAAAATTAGTAGAATACTTAAAGGAGAGTTGTTTTGATGCAGTGTTTCTCGA
Celera SNP ID:            hCV25959349
SNP Position Transcript:  343
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,34)   total(A,1|G,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 115, (S,AGT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,24)   total(A,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 115, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:6607):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1192
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 398, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6608):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1447
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 483, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6609):
GTGCAGGGTGGACTGGCCTCCTTCCACTATATGTGTGTCTACTGCTGACCTGTGGCTTTGCCAAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAG
Y
CACTGGTTCACCATGCAGTCGGTGGTGGAGAAACTCATCCTCAGGGGGCATGAGGTGGTCGTAGTCATGCCAGAGGTGAGTTGGCAACTGGGAAGATCAC
Celera SNP ID:            hCV25970519
SNP Position Transcript:  108
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,6|T,2)   total(C,27|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 36, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:6610):
CTATTAACAAGTTCATCCAATGGTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAGGACAAAAAATTAGTAGAATACTTAAAGGAGAGTT
S
TTTTGATGCAGTGTTTCTCGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCCTCTGTGGTCTTCGCCAGGGGAATATTTTGC
Celera SNP ID:            hCV25974204
SNP Position Transcript:  422
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(C,2|G,30)   total(C,2|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 141, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:6611):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1439
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 480, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6612):
TTTGCCCCTATTTTTTCAAAAATGTCTTAGAAATAGCCTCTGAAATTCTCCAAACCCCTGTCACGGCATATGATCTCTACAGCCACACATCAATTTGGTT
R
TTGCGAACTGACTTTGTTTTGGAGTATCCCAAACCCGTGATGCCCAATATGATCTTCATTGGTGGTATCAACTGTCATCAGGGAAAGCCAGTGCCTATGG
Celera SNP ID:            hCV25956225
SNP Position Transcript:  756
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,8|G,32)   total(A,15|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 252, (L,TTA)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,31)   caucasian(A,9|G,29)   total(A,16|G,60)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 252, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:6613):
CCAAGGCAGGGAAGCTGCTGGTAGTGCCCATGGATGGGAGCCACTGGTTCACCATGCAGTCGGTGGTGGAGAAACTCATCCTCAGGGGGCATGAGGTGGT
S
GTAGTCATGCCAGAGGTGAGTTGGCAACTGGGAAGATCACTGAATTGCACAGTGAAGACTTACTCAACCTCATACACTCTGGAGGATCAGGACCGGGAGT
Celera SNP ID:            hCV29367985
SNP Position Transcript:  168
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1073, 56, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:6614):
CCACTATCTTGAAGAAGGTGCACAGTGCCCTGCTCCTCTTTCCTATGTCCCCAGACTTCTCTTAGGGTTCTCAGACGCCATGACTTTCAAGGAGAGAGTA
Y
GGAACCACATCATGCACTTGGAGGAACATTTATTTTGCCCCTATTTTTTCAAAAATGTCTTAGAAATAGCCTCTGAAATTCTCCAAACCCCTGTCACGGC
Celera SNP ID:            hCV287260
SNP Position Transcript:  622
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,12|T,26)   total(C,17|T,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 208, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,12|T,26)   total(C,17|T,59)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 208, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 208, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6615):
ATTGGTGGTATCAACTGTCATCAGGGAAAGCCAGTGCCTATGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  914
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 305, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6616):
TGGACGGCACCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAATGGTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAGGACA
R
AAAATTAGTAGAATACTTAAAGGAGAGTTGTTTTGATGCAGTGTTTCTCGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCCC
Celera SNP ID:            hCV287261
SNP Position Transcript:  392
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,9)   caucasian(G,8)   total(A,1|G,17)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (R,AGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,16)   caucasian(A,12|G,8)   total(A,30|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (R,AGA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,6)   total(G,3|A,6) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:6617):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1134
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 378, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:6618):
CTGGACGGCACCATTGCGAAGTGCATTTTCTCTATTAACAAGTTCATCCAATGGTATTTTTGACTTATTTTTTTCAAATTGCAGGAGTTTGTTTAAGGAC
M
AAAAATTAGTAGAATACTTAAAGGAGAGTTGTTTTGATGCAGTGTTTCTCGATCCTTTTGATGCCTGTGGCTTAATTGTTGCCAAATATTTCTCCCTCCC
Celera SNP ID:            hCV287262
SNP Position Transcript:  391
SNP Source:               Applera
Population(Allele,Count): african american(A,8|C,6)   caucasian(A,10|C,8)   total(A,18|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (Q,CAA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|C,20)   caucasian(C,14)   total(A,2|C,34)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (Q,CAA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|A,6)   total(A,6|C,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1073, 131, (K,AAA)   (Q,CAA)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2343430 - 206000045182815
Public Transcript Accession: NM_021027
Celera Protein:              hCP1908136 - 206000045182839
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39256780..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:377):
GCTGAGATGGCCACAGGACTCCAGGTTCCCCTGCCGCAGCTGGCCACAGGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGGAAGGTGC
TGGTGGTGCCCACTGATGGCAGCCACTGGCTCAGCATGCGGGAGGCCTYGCGGGASCTCCATGCGAGAGGCCACCAGGTGGTGGTCCTCACCCYGGAGGT
GAATATGTACATCAAAGARGAGAACTTTTTCACCCTGACAACGTATGCCATTTCATGGACCCAGGACGAATTTGATCGCCTTTTGCTGGGTCACACTCAA
TCGTTCTTTGAAACAGAACATCTTCTGATGAAATTTTCTAGAAGAATGGCAATTATGAACAATATGTCTTTGATCATACATAGGTCTTGTGTGGAGCTAC
TGCATAATGAGGCCCTGATCAGGCACCTGMATGCTACTTCCTTTGATGTGGTTCTAACAGACCCCTTTCACCTCTGCGCGGCGGTGCTGGCTAAGTACCT
GTCGATTCCTGCTGTGTTTTTCTTGAGGAACATTCCATGTGATTTAGACTTTAAGGGCACACAGTGTCCAAACCCTTCCTCCTATATTCCTAGATTACTA
ACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCYCTGTCCTACCTTTGCYATGCTGTTTCTGCTCCTTATG
CAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATMTTSTCAGCCATGCATCTGTGTGGCTGTTCCGASGGGACTTYGTGATGGAYTA
CCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCT
GGAGAACATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTY
RGACAGTCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCYRAAACGATCTGCTTGGTCACCC
GATGACCSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAG
ATGGACRATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTARAAGCAGTCA
TCAATGACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTT
TGTGATGAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKACCATTYCTTGGACGTGATTGGTTTCCTCTWGGCC
GTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCA
AGACCCATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATT
CTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTT
GAATATGTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTA
CTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCA
GATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACC
TTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGG
GTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTT
TTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1074):
MATGLQVPLPQLATGLLLLLSVQPWAESGKVLVVPTDGSHWLSMREALRDLHARGHQVVVLTLEVNMYIKEENFFTLTTYAISWTQDEFDRLLLGHTQSF
FETEHLLMKFSRRMAIMNNMSLIIHRSCVELLHNEALIRHLHATSFDVVLTDPFHLCAAVLAKYLSIPAVFFLRNIPCDLDFKGTQCPNPSSYIPRLLTT
NSDHMTFLQRVKNMLYPLALSYLCHAVSAPYASLASELFQREVSVVDLVSHASVWLFRGDFVMDYPRPIMPNMVFIGGINCANGKPLSQEFEAYINASGE
HGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMD
NAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVV
LTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6619):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1001
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 332, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6620):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1000
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 332, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6621):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1014
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 336, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6622):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1397
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 464, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6623):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1458
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 484, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6624):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1207
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 401, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6625):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1472
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 489, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6626):
AGTGTCCAAACCCTTCCTCCTATATTCCTAGATTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGC
Y
CTGTCCTACCTTTGCCATGCTGTTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCCATGCAT
Celera SNP ID:            hCV25969406
SNP Position Transcript:  663
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,8)   caucasian(C,32|T,4)   total(C,56|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1074, 219, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:6627):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1540
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 512, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6628):
CTACCCTCTGGCCCTGTCCTACCTTTGCCATGCTGTTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTT
S
TCAGCCATGCATCTGTGTGGCTGTTCCGAGGGGACTTTGTGATGGACTACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGC
Celera SNP ID:            hCV25968801
SNP Position Transcript:  751
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,27)   caucasian(C,3|G,35)   total(C,10|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 249, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:6629):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1614
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1074, None   



Context             (SEQ ID NO:6630):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1950
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1074, None   



Context             (SEQ ID NO:6631):
GCTCTACCCTCTGGCCCTGTCCTACCTTTGCCATGCTGTTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGAT
M
TTGTCAGCCATGCATCTGTGTGGCTGTTCCGAGGGGACTTTGTGATGGACTACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTG
Celera SNP ID:            hCV8738452
SNP Position Transcript:  748
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,29)   caucasian(A,6|C,34)   total(A,13|C,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 248, (I,ATT)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 248, (I,ATT)   (L,CTT)      



Context             (SEQ ID NO:6632):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2051
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1074, None   



Context             (SEQ ID NO:6633):
TGCTGTTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCCATGCATCTGTGTGGCTGTTCCGA
S
GGGACTTTGTGATGGACTACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGA
Celera SNP ID:            hCV8738453
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,25)   caucasian(C,3|G,33)   total(C,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 259, (R,CGG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 259, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:6634):
CTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCCATGCATCTGTGTGGCTGTTCCGAGGGGACTT
Y
GTGATGGACTACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGAAGCCTACA
Celera SNP ID:            hCV25968738
SNP Position Transcript:  789
SNP Source:               Applera
Population(Allele,Count): african american(T,32)   caucasian(C,2|T,32)   total(C,2|T,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1074, 261, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:6635):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1136
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 377, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6636):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1015
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 337, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6637):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1079
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 358, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6638):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1139
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 378, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6639):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1078
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 358, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6640):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1496
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 497, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6641):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1108
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 368, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6642):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1111
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 369, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6643):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1291
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 429, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6644):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1318
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 438, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6645):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1437
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1074, 477, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6646):
GAAATTTTCTAGAAGAATGGCAATTATGAACAATATGTCTTTGATCATACATAGGTCTTGTGTGGAGCTACTGCATAATGAGGCCCTGATCAGGCACCTG
M
ATGCTACTTCCTTTGATGTGGTTCTAACAGACCCCTTTCACCTCTGCGCGGCGGTGCTGGCTAAGTACCTGTCGATTCCTGCTGTGTTTTTCTTGAGGAA
Celera SNP ID:            hCV27512039
SNP Position Transcript:  430
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,178|C,1289)   total(A,178|C,1289) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 142, (N,AAT)   (H,CAT)      



Context             (SEQ ID NO:6647):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1822
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1074, None



Context             (SEQ ID NO:6648):
GCAGCCACTGGCTCAGCATGCGGGAGGCCTTGCGGGACCTCCATGCGAGAGGCCACCAGGTGGTGGTCCTCACCCTGGAGGTGAATATGTACATCAAAGA
R
GAGAACTTTTTCACCCTGACAACGTATGCCATTTCATGGACCCAGGACGAATTTGATCGCCTTTTGCTGGGTCACACTCAATCGTTCTTTGAAACAGAAC
Celera SNP ID:            hCV25967098
SNP Position Transcript:  219
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,38)   total(A,71|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1074, 71, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:6649):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1429
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 475, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6650):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1133
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 376, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6651):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1465
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 487, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6652):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 402, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6653):
GGACTGCTGCTTCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGGAAGGTGCTGGTGGTGCCCACTGATGGCAGCCACTGGCTCAGCATGCGGGAGGCCT
Y
GCGGGACCTCCATGCGAGAGGCCACCAGGTGGTGGTCCTCACCCTGGAGGTGAATATGTACATCAAAGAAGAGAACTTTTTCACCCTGACAACGTATGCC
Celera SNP ID:            hCV11742240
SNP Position Transcript:  149
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,29)   caucasian(C,3|T,31)   total(C,10|T,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 48, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 48, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:6654):
TGCTTCTCCTCAGTGTCCAGCCCTGGGCTGAGAGTGGGAAGGTGCTGGTGGTGCCCACTGATGGCAGCCACTGGCTCAGCATGCGGGAGGCCTTGCGGGA
S
CTCCATGCGAGAGGCCACCAGGTGGTGGTCCTCACCCTGGAGGTGAATATGTACATCAAAGAAGAGAACTTTTTCACCCTGACAACGTATGCCATTTCAT
Celera SNP ID:            hCV11742241
SNP Position Transcript:  156
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,7)   caucasian(C,30|G,6)   total(C,59|G,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 50, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 50, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:6655):
AAGGTGCTGGTGGTGCCCACTGATGGCAGCCACTGGCTCAGCATGCGGGAGGCCTTGCGGGACCTCCATGCGAGAGGCCACCAGGTGGTGGTCCTCACCC
Y
GGAGGTGAATATGTACATCAAAGAAGAGAACTTTTTCACCCTGACAACGTATGCCATTTCATGGACCCAGGACGAATTTGATCGCCTTTTGCTGGGTCAC
Celera SNP ID:            hCV11742243
SNP Position Transcript:  194
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,27)   caucasian(C,6|T,30)   total(C,13|T,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 63, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,124|T,979)   total(C,124|T,979) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 63, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6656):
CTCCTATATTCCTAGATTACTAACGACCAATTCAGACCACATGACATTCCTGCAAAGGGTCAAGAACATGCTCTACCCTCTGGCCCTGTCCTACCTTTGC
Y
ATGCTGTTTCTGCTCCTTATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCCATGCATCTGTGTGGCTGTTCCG
Celera SNP ID:            hCV25969366
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,37|T,3)   total(C,68|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 225, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:6657):
ATGCAAGCCTTGCCTCTGAGCTTTTTCAGAGAGAGGTGTCAGTGGTGGATCTTGTCAGCCATGCATCTGTGTGGCTGTTCCGAGGGGACTTTGTGATGGA
Y
TACCCCAGGCCGATCATGCCCAACATGGTCTTCATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTT
Celera SNP ID:            hCV8738460
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,18)   caucasian(C,14|T,24)   total(C,32|T,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 264, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 264, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:6658):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1457
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 484, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6659):
ATTGGGGGCATCAACTGTGCCAACGGGAAGCCACTATCTCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  932
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 309, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6660):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1152
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1074, 382, (S,AGC)   (R,AGG)      



Gene Number:                 138
Celera Gene:                 hCG2039726 - 206000045182819
Celera Transcript:           hCT2303412 - 206000045182798
Public Transcript Accession: NM_021027
Celera Protein:              hCP1808617 - 209000072009205
Public Protein Accession:    NP_066307
Gene Symbol:                 UGT1A1
Protein Name:                UDP glycosyltransferase 1 family, polypeptide A1;GNT1;UGT1;UGT1A;UGT1A5
Celera Genomic Axis:         GA_x5YUV32VWPT(39304054..39317111)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:378):
ATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCKGCTGCTGTGTGTGC
TGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCSACTGGCTGAGCATGCTTGGGGCCATYCAGYAGCTGCAGCAGAG
GGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACRGAGCATTTTAMACCTTGAAGACGTACCCTGTGCCAYTCCAAAGGGAG
GATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACT
CTGCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTT
CCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACWGCCAYGCAGCCTGGAATTTGAGGCTACCCAGTGC
CCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGYGGGTGAAGAACATGCTCATTGCCTTTTCACAGA
ACTTTCTGTGCGACGKGGTTTATTCCCMGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCYCTGCATCTGT
CTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCAAAATCCACTA
TCCCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGRATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTA
TGGCAATTGCTGATGCTTTGGGCAAAATCCCTYRGACAGTCCTGTGRYGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAA
GTGGCTACCCYRAAACGATCTGCTTGGTCACCCGATGACCSGTRCCTTTATCACCCATGCTGGTTYCCRTGKTGTTTATGAAAGSATATGCAATGGCGTT
CCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACRATSCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTT
CTGAAGATTTAGAAAATGCTCTARAAGCAGTCATCAATGACAAAAGTTACWAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGA
GCCGCTGGACCTGGCCGTGTTCTGGGTGGMGTTTGTGATGAGGCACAAGGGCGCGCCACACMTGCGCCCYGCAGCCCACGACCTCACCTRRTACCAGKAC
CATTYCTTGGACGTGATTGGTTTCCTCTWGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTSCTTATGGCTACCGGAAATGCTTGGGGA
AAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGARGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACT
TGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAA
AAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCYGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTG
CAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACSGCTGCCCCTACTGCAAA
TGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCSTGCTTCATAGGTGCCA
CCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTT
TGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAAT
ACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTT

Protein Sequence    (SEQ ID NO:1075):
MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVF
ENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSH
SDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEH
GIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDN
AKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVL
TVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH


SNP Information

Context             (SEQ ID NO:6661):
ATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCC
K
GCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAG
Celera SNP ID:            hCV27527971
SNP Position Transcript:  86
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 15, (R,CGG)   (L,CTG)      



Context             (SEQ ID NO:6662):
GGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTC
R
GACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCG
Celera SNP ID:            hCV27864147
SNP Position Transcript:  1034
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 331, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:6663):
TGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCT
Y
AGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCC
Celera SNP ID:            hCV27864148
SNP Position Transcript:  1033
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 331, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6664):
TTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTG
R
CGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCT
Celera SNP ID:            hCV27864149
SNP Position Transcript:  1047
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 335, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6665):
GTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGG
M
GTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTG
Celera SNP ID:            hCV27531745
SNP Position Transcript:  1430
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 463, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:6666):
GCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTG
R
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAAT
Celera SNP ID:            hCV27528142
SNP Position Transcript:  1491
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 483, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6667):
GCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCCA
Y
TCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAAT
Celera SNP ID:            hCV27860696
SNP Position Transcript:  289
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 83, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:6668):
TACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACG
K
GGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGT
Celera SNP ID:            hCV27860697
SNP Position Transcript:  716
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 225, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:6669):
CCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGAC
R
ATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGA
Celera SNP ID:            hCV27860698
SNP Position Transcript:  1240
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 400, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:6670):
CTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATT
Y
CTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAA
Celera SNP ID:            hCV27536418
SNP Position Transcript:  1505
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 488, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6671):
AGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGT
S
CTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTT
Celera SNP ID:            hCV7607421
SNP Position Transcript:  1573
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 511, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:6672):
CAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGAC
R
GAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTC
Celera SNP ID:            hCV27536472
SNP Position Transcript:  253
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 71, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:6673):
GCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAG
Y
AGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCC
Celera SNP ID:            hCV27537098
SNP Position Transcript:  187
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 49, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6674):
TGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGA
R
GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAAT
Celera SNP ID:            hCV7607427
SNP Position Transcript:  1647
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1075, None   



Context             (SEQ ID NO:6675):
CATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCAC
S
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
Celera SNP ID:            hCV7607428
SNP Position Transcript:  1983
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1075, None   



Context             (SEQ ID NO:6676):
GCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTC
S
TGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGC
Celera SNP ID:            hCV7607429
SNP Position Transcript:  2084
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;POOLE|_CEPH(C,52|G,136)   total(G,136|C,52)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1075, None   



Context             (SEQ ID NO:6677):
TGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTA
M
ACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGC
Celera SNP ID:            hCV27536006
SNP Position Transcript:  264
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 74, (X,TAA)   (Y,TAC)      



Context             (SEQ ID NO:6678):
TCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCC
R
TGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT
Celera SNP ID:            hCV27536007
SNP Position Transcript:  1169
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 376, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:6679):
TGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGG
Y
GGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTT
Celera SNP ID:            hCV27864150
SNP Position Transcript:  1048
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 336, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6680):
GATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCC
R
AAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATG
Celera SNP ID:            hCV27864151
SNP Position Transcript:  1112
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 357, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:6681):
AATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATG
K
TGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGA
Celera SNP ID:            hCV27536008
SNP Position Transcript:  1172
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 377, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:6682):
TGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCC
Y
AAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGAT
Celera SNP ID:            hCV27864152
SNP Position Transcript:  1111
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 357, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:6683):
GAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCT
W
GGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAA
Celera SNP ID:            hCV27536009
SNP Position Transcript:  1529
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 496, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:6684):
CCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
S
GTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAA
Celera SNP ID:            hCV27864153
SNP Position Transcript:  1141
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 367, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:6685):
CCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGC
S
ACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGC
Celera SNP ID:            hCV27530915
SNP Position Transcript:  157
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 39, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:6686):
GTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGT
R
CCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGC
Celera SNP ID:            hCV27864154
SNP Position Transcript:  1144
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 368, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:6687):
GCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAG
Y
GGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGT
Celera SNP ID:            hCV27540750
SNP Position Transcript:  667
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 209, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6688):
TGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTA
R
AAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTG
Celera SNP ID:            hCV27864155
SNP Position Transcript:  1324
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 428, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:6689):
CATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTAC
W
AGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGG
Celera SNP ID:            hCV27864156
SNP Position Transcript:  1351
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 437, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:6690):
CCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCC
M
GTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAG
Celera SNP ID:            hCV27540914
SNP Position Transcript:  728
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 229, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:6691):
CAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCA
Y
GCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGT
Celera SNP ID:            hCV27540828
SNP Position Transcript:  571
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 177, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:6692):
TCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCC
Y
GCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTT
Celera SNP ID:            hCV25992439
SNP Position Transcript:  1470
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1075, 476, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:6693):
ATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTC
Y
GGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGG
Celera SNP ID:            hCV25971205
SNP Position Transcript:  1855
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,11)   caucasian(C,29|T,9)   total(C,56|T,20)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1075, None



Context             (SEQ ID NO:6694):
CCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTT
Y
CCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGA
Celera SNP ID:            hCV27536551
SNP Position Transcript:  1166
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 375, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:6695):
CATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACAC
M
TGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTT
Celera SNP ID:            hCV8570123
SNP Position Transcript:  1462
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,9)   total(A,1|C,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 474, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:6696):
GGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAG
K
ACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGG
Celera SNP ID:            hCV27528606
SNP Position Transcript:  1498
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 486, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:6697):
TGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT
S
CAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAA
Celera SNP ID:            hCV27531412
SNP Position Transcript:  1243
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 401, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:6698):
GCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCAT
Y
CAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTG
Celera SNP ID:            hCV25965204
SNP Position Transcript:  183
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,38|T,2)   total(C,70|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1075, 47, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:6699):
CTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGC
Y
CTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCA
Celera SNP ID:            hCV26000796
SNP Position Transcript:  790
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 250, (P,CCT)   (S,TCT)   



Context             (SEQ ID NO:6700):
GAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCAC
W
GCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAG
Celera SNP ID:            hCV27531417
SNP Position Transcript:  566
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 175, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:6701):
CGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCT
R
GTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
Celera SNP ID:            hCV27540344
SNP Position Transcript:  1490
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 483, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:6702):
GTTGGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGG
R
ATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGA
Celera SNP ID:            hCV27528681
SNP Position Transcript:  965
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 308, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:6703):
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAG
S
ATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATG
Celera SNP ID:            hCV27528682
SNP Position Transcript:  1185
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1075, 381, (S,AGC)   (R,AGG)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344600 - 208000027490911
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909891 - 208000027490930
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84779..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:379):
CTCCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGA
GCYCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGRGCATCAGGCCTAGGG
ACCCCTAAGYGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCYGCCTCACCCTGGCCAATC
CTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACAT
CCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTGGAGACGGTGCTCAAGATC
GTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGC
TGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCC
ACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTC
GTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACC
CATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTT
TGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAA
CTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAG
AGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGA
GCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCAYAGCTGGCCGAGCTGACCAATAGG
AGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTGACACCGGTTCCATGACAG
AGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCG
AGCCAACCGGGTCCTTCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATC
GCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAAT
TGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGT
GGGYGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTG
GCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGRCATGCAGCTGTTTGGGG
GCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTG
GAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAAC
TACATCCTGTTGAACGTGTKTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGA
AGGATCTCCCACAGGAGAATGAAGGCCTGGTGCCTGGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGA
GGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCT
GAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGT
TCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTC
CATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTG
GTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCA
TCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTAT
GTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTA
TACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGYGGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGT
TCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGAT
CTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAG
GAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATC
AGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGA
GCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCC
AAGCATTACTTCACTGATGCCTGGAACACGTTTGACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCC
TAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACA
TTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGATGT
TCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCAGGTGTGCCACTGG
TGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTACCTGTGGTAGCAAT
TTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCA
GAGATTGRTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGT
GGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAATGAACATGCCCCTC
AACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGG
AGCTGCGGATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAA
ATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCC
GCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGG
GAGTGGAGGAGGAAGATGAAAAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCTCTGCC
TGTCGGGGACAGACTTCCAGATTCACTCTCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCC
AACACCCACAGGAGAGGCTCTGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGG
ATGAGGAAGTCCCTGATCGGCTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATACATGGA
TGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAG
GATTTACCCATCCCAGGCACCTATCATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGT
ATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGG
AACCCACTCGGACCCCAGCCATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCA
CGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCA
GCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCC
TCCCCAACTGCTCAATAAACCTCCTGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1076):
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILL
TIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGF
DVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEED
LRGYLDWITQAEELDMEDPSADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLN
KIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQA
LLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEG
ARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTI
GNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYA
EDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNVRTGLALRTAPAFPLPSFASSELCG
WSSFSVRVKGSAHCSGHSSSPSRPCPMWLFSSQ


SNP Information

Context             (SEQ ID NO:6704):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4268
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None



Context             (SEQ ID NO:6705):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4447
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None



Context             (SEQ ID NO:6706):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1904
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 614, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 614, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6707):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCCTAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTC
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3837
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 1259, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6708):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 1141, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6709):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1618
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 519, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 519, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6710):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3240
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 1060, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6711):
TGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCCTAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3950
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 1296, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:6712):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5844
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6713):
AGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAG
Y
GAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACG
Celera SNP ID:            hCV27531019
SNP Position Transcript:  210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 50, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6714):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4408
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6715):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3371
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 1103, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 1103, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6716):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4859
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6717):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  1168
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 369, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6718):
AAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGG
R
GCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCC
Celera SNP ID:            hCV25594610
SNP Position Transcript:  185
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1076, 41, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:6719):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3769
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 1236, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6720):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2845
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 928, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6721):
CCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGC
Y
CAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACC
Celera SNP ID:            hCV25594603
SNP Position Transcript:  103
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,6)   caucasian(C,36)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 14, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 14, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6722):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5486
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6723):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5634
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6724):
GGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1377
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 439, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6725):
GCCGTCATTGGCATGCAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4179
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6726):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2320
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 753, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6727):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2641
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 860, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6728):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  3114
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 1018, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6729):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 472, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6730):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4554
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6731):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4578
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6732):
TGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTC
Y
GCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGT
Celera SNP ID:            hCV27859618
SNP Position Transcript:  282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 74, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:6733):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5534
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1076, None   



Context             (SEQ ID NO:6734):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  747
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 229, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6735):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  2083
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1076, 674, (D,GAC)   (G,GGC)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344598 - 208000027490741
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909888 - 208000027490923
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84779..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:380):
CTCCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGA
GCYCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGRGCATCAGGCCTAGGG
ACCCCTAAGYGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCYGCCTCACCCTGGCCAATC
CTCTGCGACGGTCCTGCATCAGCATCGTGGAGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGT
GGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCG
GGCTGTTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGC
GTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT
GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACA
TGGAAGCGGAGGAGGACCCATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAA
TGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAA
GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGG
AGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTG
GATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCAYAGCTG
GCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTG
ACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGT
CTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTC
CTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGG
TGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGA
GACCACCTTGGTGGAGGTGGGYGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCT
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
RCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGAT
CCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATT
CTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGTKTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCG
GGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAATGAAGGCCTGACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA
GAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCA
ACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGA
GGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACA
GTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCC
ACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGCA
GTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGGG
AAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCC
GGGAGYGGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACT
GCTATACAAGGCCATCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATT
GCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGC
GTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTGC
CTTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATC
CTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTG
ACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTC
CATTACCTTCTTTCGCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTC
CAGGCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGGCAACCTTGATGTGTCCACAGATGTTCGGCA
AGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCAGGTGTGCCACTGGTGAGGC
ATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCC
ATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATT
GRTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGC
CCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAATGAACATGCCCCTCAACTCA
GATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGC
GGATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTA
CGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTT
CAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGG
AGGAGGAAGATGAAAAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGG
GGACAGACTTCCAGATTCACTCTCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACC
CACAGGAGAGGCTCTGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGG
AAGTCCCTGATCGGCTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCA
CCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAGGATTTA
CCCATCCCAGGCACCTATCATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCC
CGCTGTTGTTGGTGGAAGAGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCA
CTCGGACCCCAGCCATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTC
GTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTC
TCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCCTCCCCA
ACTGCTCAATAAACCTCCTGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1077):
MEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYF
DYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVT
TLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIY
NYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVAL
AMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLL
SKGEGIRTLLWTFIKSFQALPYVALLIAMIFFIYAVIGMQATLMCPQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRCDP
ESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRK
EKGLLGNDAAPSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSLSFGPSDDDR
GTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVE
AVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL


SNP Information

Context             (SEQ ID NO:6736):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4262
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 605, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6737):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4441
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1077, 664, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:6738):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1922
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6739):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCAT
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3803
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 452, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6740):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3450
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 334, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6741):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1636
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None



Context             (SEQ ID NO:6742):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3206
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 253, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6743):
CATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3923
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 492, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6744):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5838
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 1130, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 1130, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6745):
AGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAG
Y
GAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACG
Celera SNP ID:            hCV27531019
SNP Position Transcript:  210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6746):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4402
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 651, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6747):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4853
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 802, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:6748):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3337
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1077, 296, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1077, 296, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6749):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  1186
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6750):
AAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGG
R
GCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCC
Celera SNP ID:            hCV25594610
SNP Position Transcript:  185
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None



Context             (SEQ ID NO:6751):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3735
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 429, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6752):
CCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGC
Y
CAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACC
Celera SNP ID:            hCV25594603
SNP Position Transcript:  103
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,6)   caucasian(C,36)   total(C,60|T,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6753):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5480
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 1011, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:6754):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5628
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 1060, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6755):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2811
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 121, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6756):
GGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1395
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6757):
ACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4173
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 575, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:6758):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2338
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6759):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2607
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 53, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6760):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  3080
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 211, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6761):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1495
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6762):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4548
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 700, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:6763):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4572
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 708, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:6764):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5528
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1077, 1027, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6765):
TGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTC
Y
GCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACATCCTCATCCTGCTGAC
Celera SNP ID:            hCV27859618
SNP Position Transcript:  282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6766):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  2101
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Context             (SEQ ID NO:6767):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  765
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1077, None   



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344596 - 208000027490717
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909893 - 208000027490936
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84779..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:381):
CTCCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGA
GCYCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGRGCATCAGGCCTAGGG
ACCCCTAAGYGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCYGCCTCACCCTGGCCAATC
CTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACAT
CCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTGGAGACGGTGCTCAAGATC
GTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGC
TGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCC
ACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTC
GTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACC
CATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTT
TGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAA
CTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAG
AGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGA
GCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCAYAGCTGGCCGAGCTGACCAATAGG
AGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTGACACCGGTTCCATGACAG
AGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCG
AGCCAACCGGGTCCTTCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATC
GCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAAT
TGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGT
GGGYGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTG
GCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGRCATGCAGCTGTTTGGGG
GCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTG
GAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAAC
TACATCCTGTTGAACGTGTKTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGA
AGGATCTCCCACAGGAGAATGAAGGCCTGGTGCCTGGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGA
GGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCT
GAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGT
TCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTC
CATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTG
GTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCA
TCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTAT
GTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTA
TACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGYGGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGT
TCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGAT
CTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAG
GAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATC
AGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGA
GCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCC
AAGCATTACTTCACTGATGCCTGGAACACGTTTGACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACC
TTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGAT
CCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATG
CAGGCAACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTG
TGCTGCWTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCC
TGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTG
ATCATGGACAACTTTGATTATCTCACCAGAGATTGRTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGG
CCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAA
GAGACYTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACA
GAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCAC
CAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGG
CAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACA
GAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGGACTTGGAAACTAACAAAAGATACATGGATGGGCACCTGGTACCACGCC
GCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAGGATTTACCCATCCCAGGCAC
CTATCATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTG
GAAGAGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCC
ATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAA
GCAGGAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAG
GAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCCTCCCCAACTGCTCAATAAAC
CTCCTGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1078):
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILL
TIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGF
DVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEED
LRGYLDWITQAEELDMEDPSADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLN
KIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQA
LLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEG
ARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTI
GNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYA
EDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRV
MRLVKLLSKGEGIRTLLWTFIKSFQALPYVALLIAMIFFIYAVIGMQATLMCPQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASL
PGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPL
GFGKLCPHRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYF
RKFRRRKEKGLLGNDAAPSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQ
RQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLG
LFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL


SNP Information

Context             (SEQ ID NO:6768):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4296
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1412, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6769):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4475
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 1471, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:6770):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1904
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 614, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 614, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6771):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCAT
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3837
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1259, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6772):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1141, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6773):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1618
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 519, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 519, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6774):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3240
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1060, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6775):
CATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3957
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1299, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6776):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5524
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1821, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1821, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6777):
AGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAG
Y
GAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACG
Celera SNP ID:            hCV27531019
SNP Position Transcript:  210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 50, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6778):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4436
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1458, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6779):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3371
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 1103, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 1103, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6780):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4887
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1609, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:6781):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  1168
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 369, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6782):
AAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGG
R
GCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCC
Celera SNP ID:            hCV25594610
SNP Position Transcript:  185
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1078, 41, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:6783):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3769
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1236, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6784):
CCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGC
Y
CAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACC
Celera SNP ID:            hCV25594603
SNP Position Transcript:  103
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,6)   caucasian(C,36)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 14, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 14, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6785):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5314
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1751, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6786):
CAAAAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5166
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1702, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:6787):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2845
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 928, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6788):
ACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4207
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1382, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:6789):
GGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1377
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 439, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6790):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2320
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 753, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6791):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2641
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 860, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6792):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 472, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6793):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  3114
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1018, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6794):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4582
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1507, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:6795):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4606
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1515, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:6796):
TGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTC
Y
GCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGT
Celera SNP ID:            hCV27859618
SNP Position Transcript:  282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 74, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:6797):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5214
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 1718, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6798):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  2083
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 674, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6799):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  747
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1078, 229, (P,CCC)   (S,TCC)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344601 - 208000027490798
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909892 - 208000027490933
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84779..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:382):
CTCCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGA
GCYCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGRGCATCAGGCCTAGGG
ACCCCTAAGYGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCYGCCTCACCCTGGCCAATC
CTCTGCGACGGTCCTGCATCAGCATCGTGGAGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGT
GGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCG
GGCTGTTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGC
GTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT
GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACA
TGGAAGCGGAGGAGGACCCATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAA
TGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAA
GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGG
AGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTG
GATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCAYAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTG
CGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATG
AGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCT
TCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCAC
GGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAATTGTACGGTCTGGGCC
CCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGGYGCCATGCAGCC
CTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCATCCCTGCTCAAT
TCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGRCATGCAGCTGTTTGGGGGCAAGTTCAACTTTG
ACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTGGAACGTGGTCATGTA
TGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAAC
GTGTKTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGG
AGAATGAAGGCCTGGTGCCTGGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGA
AGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTC
TTCTGCCTCAGCCAAACCAACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCA
GTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGA
GATTCTACTAAAGATGACAGTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCC
CTCATCTCCTTTGGCATCCACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGG
GACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCRG
GGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGAC
GTGTCACGGCCCCTGGTCCGGGAGYGGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCT
TTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCAT
TGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAGGAGTACCAAAACTGT
GAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGG
CCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTT
CAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACT
GATGCCTGGAACACGTTTGACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTG
AGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTG
GACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGGCAACCTTGATG
TGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCA
GGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTAC
CTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTT
GATTATCTCACCAGAGATTGRTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCA
AACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAAT
GAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAG
CAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGG
TCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCC
TAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAA
GAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTT
CTGTGTCTCTGCCTGTCGGGGACAGACTTCCAGATTCACTCTCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCC
CCAGGCTGGATCCAACACCCACAGGAGAGGCTCTGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAAC
AAGCAAGATGAGGATGAGGAAGTCCCTGATCGGCTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTC
AGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMA
GGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGG
GGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTC
TGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTT
TGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTG
GCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCT
GAATTCCCACCCCTCCCCAACTGCTCAATAAACCTCCTGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1079):
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEVLDCVHLRPF
DILILLTIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTG
GKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTL
NQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREK
QQMEEDLRGYLDWITQAEELDMEDPSADDNLGPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKT
RVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGI
LETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVF
QILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREG
ADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILG
YFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGP
IYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTV
ALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVK
LLSKGEGIRTLLWTFIKSFQALPYVALLIAMIFFIYAVIGMQATLMCPQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRC
DPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKL
CPHRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRR
RKEKGLLGNDAAPSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSLSFGPSDD
DRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAG
RKPSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSL
VEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL


SNP Information

Context             (SEQ ID NO:6800):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4281
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1407, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6801):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4460
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 1466, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:6802):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1889
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 609, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 609, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6803):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCAT
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3822
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1254, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6804):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3469
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1136, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6805):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1603
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 514, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 514, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6806):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3225
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1055, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6807):
CATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3942
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1294, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6808):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5857
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1932, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1932, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6809):
AGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAG
Y
GAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACG
Celera SNP ID:            hCV27531019
SNP Position Transcript:  210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 50, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6810):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4421
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1453, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6811):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3356
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 1098, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 1098, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6812):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4872
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1604, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:6813):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  1186
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 375, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6814):
AAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGG
R
GCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCC
Celera SNP ID:            hCV25594610
SNP Position Transcript:  185
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1079, 41, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:6815):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3754
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1231, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6816):
CCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGC
Y
CAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACC
Celera SNP ID:            hCV25594603
SNP Position Transcript:  103
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,6)   caucasian(C,36)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 14, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 14, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6817):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5647
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1862, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6818):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5499
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1813, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:6819):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2830
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 923, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6820):
ACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4192
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1377, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:6821):
GCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1362
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 434, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6822):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2305
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 748, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6823):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2626
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 855, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6824):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1462
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 467, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6825):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  3099
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1013, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6826):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4567
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1502, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:6827):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4591
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1510, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:6828):
TGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTC
Y
GCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACATCCTCATCCTGCTGAC
Celera SNP ID:            hCV27859618
SNP Position Transcript:  282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 74, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:6829):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5547
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 1829, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6830):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  2068
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 669, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6831):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  765
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1079, 235, (P,CCC)   (S,TCC)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344597 - 208000027490847
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909890 - 208000027490927
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84841..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:383):
ATGTCGGAATCTGAAGGCGGGAAAGGTGAGAGAATCCTTCCATCCCTGCAGACCCTTGGAGCAAGGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACA
TCCTCATCCTGCTGACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCA
GGTGGAGTACGTATTCCTGGTGATTTTCACTGTGGAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGC
TGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAA
AGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYC
CATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGA
ATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACC
AGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCAT
GGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTC
GTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGC
AGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGC
TGAAGAGGGCCGGGCGGGCCATCGGCCAYAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACAC
TCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTA
CACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAA
TGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATCCAGGAG
TATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCT
TTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGGYGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCT
CCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTC
CTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGRCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACA
CGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTT
CCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGTKTCTTGCCATTGCTGTGGACAACCTGGCC
AGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAATGAAGGCCTGGTGCCTGGTGTGGAGAAAG
AGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGG
TGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGCYGAGGAAG
GGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAG
CCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGMCTT
CCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCCATC
TCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGG
CCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTG
CACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGYGGCTCTGG
GTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCA
TCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGAT
GAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAA
TATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGA
TGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTT
CACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACRCTCTTATTGTG
GTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTC
GCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTA
TGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGGCAACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAG
GATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAA
TGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCAT
CAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGRTCCATCCTGGGC
CCCCATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTA
TCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGAC
ATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAA
AAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGA
TCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCG
GAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAA
AAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGGGGACAGACTTCCAG
ATTCACTCTCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACCCACAGGAGAGGCTC
TGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGGAAGTCCCTGATCGG
CTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCACCTGGTACCACGCC
GCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAGGATTTACCCATCCCAGGCAC
CTATCATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTG
GAAGAGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCC
ATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAA
GCAGGAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAG
GAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCCTCCCCAACTGCTCAATAAAC
CTCCTGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1080):
MSESEGGKGERILPSLQTLGARVLDCVHLRPFDILILLTIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNG
WNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGR
MHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFF
VLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPSADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTH
STSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQE
YANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLL
LFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLA
SGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRK
GCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAI
SVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLW
VNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVE
YALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIV
VGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYVALLIAMIFFIYAVIGMQATLMCPQMFGKVALQ
DGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILG
PHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIK
KIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDE
KDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDEEVPDR
LSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLV
EEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDE
ESILSRFDEEDLGDEMACVHAL


SNP Information

Context             (SEQ ID NO:6832):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4048
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1350, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6833):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4227
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1080, 1409, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:6834):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1656
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1080, 552, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1080, 552, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6835):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCAT
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3589
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1197, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6836):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3236
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1079, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6837):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1370
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 457, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 457, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6838):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  2992
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 998, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6839):
CATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3709
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1237, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6840):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5624
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1875, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1875, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6841):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4188
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1396, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6842):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3123
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1080, 1041, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1080, 1041, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6843):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4639
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1547, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:6844):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  920
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 307, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6845):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1174, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6846):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2597
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 866, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6847):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5266
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1756, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:6848):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5414
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1805, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6849):
ACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  3959
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1320, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:6850):
GGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1129
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 377, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6851):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2072
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 691, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6852):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2393
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 798, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6853):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1229
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 410, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6854):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  2866
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 956, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6855):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4334
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1445, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:6856):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4358
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1453, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:6857):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5314
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 1772, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6858):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  499
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 167, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6859):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  1835
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1080, 612, (D,GAC)   (G,GGC)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344595 - 208000027491048
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909889 - 208000027490925
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84841..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:384):
ATGTCGGAATCTGAAGGCGGGAAAGGTGAGAGAATCCTTCCATCCCTGCAGACCCTTGGAGCAAGGGTCCTTGACTGTGTCCACCTGAGGCCCTTCGACA
TCCTCATCCTGCTGACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCA
GGTGGAGTACGTATTCCTGGTGATTTTCACTGTGGAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGC
TGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAA
AGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYC
CATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGA
ATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACC
AGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCAT
GGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTC
GTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGC
AGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCAYAGCT
GGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGT
GACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAG
TCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCRGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTT
CCTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACG
GTGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAG
AGACCACCTTGGTGGAGGTGGGYGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGC
TTCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTT
GRCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGA
TCCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCAT
TCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGTKTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGC
GGGCTCCCTCTGGCTGCTTTGAGAACGGACTGTTGGGAGGGGCAGTGGGGAAGAGCGGAAGCAAGAAAGTTCTATGGGACCCAAGAAAGGGAAATGGGAA
GAATTGACCACGTGGCAAACACTGTTCTGGGTGCTTTACATCAACTTGCTCAATTAATTTTTTTTTGCTTTTCTCTGGTGCCAGACATGGAGGAGGAGGA
GGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATC
CCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGG
TGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCAC
CTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTG
CTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCAGGCCCAGCCAGGGCCAATGCCTGAGGATTGCCCCTTCCCCAGCTCCAGCGCCATCTCGGTGG
TGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCG
GACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGAC
GAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGYGGCTCTGGGTCAACA
GTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGC
ATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATC
TTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCC
TCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCT
GCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGGCTCCATCTCAACCTGATTTTCTCCTGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCC
ATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGA
ACACGTTTGACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCT
CTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTG
GCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGGCAACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATG
GCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCT
TGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGC
TTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGRTCCATCCTGGGCCCCC
ATCACCTTGATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCA
GCCCCCTCTGGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTC
AACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGA
TCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCA
GGACTATTTCCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGC
CTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGG
ACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGGGGACAGACTTCCAGATTC
ACTCTCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACCCACAGGAGAGGCTCTGGG
GCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGGAAGTCCCTGATCGGCTTT
CCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCG
TCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTAT
CATCGTGGGYGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAG
AGGGCGCAGSGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGG
GAAGAGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAG
GAGATTGCAGATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGT
CCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCCTCCCCAACTGCTCAATAAACCTCC
TGCCCTCCCCTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1081):
MSESEGGKGERILPSLQTLGARVLDCVHLRPFDILILLTIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNG
WNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGR
MHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFF
VLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPSADDNLGPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPAS
DTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFT
VEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLL
GMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKG
GLPLAALRTDCWEGQWGRAEARKFYGTQEREMGRIDHVANTVLGALHQLAQLIFFCFSLVPDMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPI
PEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDL
LVVSVSLISFGIQAQPGPMPEDCPFPSSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTD
EAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNI
FVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQAPSQPDFLLQHYEQTAPFNYA
MDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYV
ALLIAMIFFIYAVIGMQATLMCPQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFIS
FFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVTF
NATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAGLRS
LQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSG
ALIFTIPEEGNSQPKGTKGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQRQGSCEDLPIPGTY
HRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQ
EIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL


SNP Information

Context             (SEQ ID NO:6860):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4144
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1382, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:6861):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4323
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1081, 1441, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:6862):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1623
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1081, 541, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1081, 541, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6863):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCCGAGTTAT
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3712
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1238, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6864):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3329
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1110, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6865):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1337
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 446, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 446, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6866):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3085
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1029, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6867):
GTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3805
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1269, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6868):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5720
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1907, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1907, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:6869):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4284
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1428, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:6870):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3216
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1081, 1072, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1081, 1072, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6871):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4735
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1579, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:6872):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  920
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 307, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6873):
TCTCAACCTGATTTTCTCCTGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3644
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1215, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6874):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCAGGCCCAGCCA
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2648
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 883, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6875):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1788, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:6876):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5510
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1837, (A,GCG)   (G,GGG)      



Context             (SEQ ID NO:6877):
ACCTTGATGTGTCCACAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4055
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1352, (H,CAT)   (L,CTT)      



Context             (SEQ ID NO:6878):
GCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1096
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 366, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6879):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGCTCCCTCTGGCTGCTTTGAGAACGGACTGTTGGGAG
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2039
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 680, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6880):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2444
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 815, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6881):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1196
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 399, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6882):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  2959
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 987, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6883):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4430
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1477, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:6884):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4454
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1485, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:6885):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 1804, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6886):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  499
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 167, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6887):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  1802
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1081, 601, (D,GAC)   (G,GGC)      



Gene Number:                 139
Celera Gene:                 hCG2039817 - 208000027490716
Celera Transcript:           hCT2344599 - 208000027490819
Public Transcript Accession: NM_005183
Celera Protein:              hCP1909894 - 208000027490940
Public Protein Accession:    NP_005174
Gene Symbol:                 CACNA1F
Protein Name:                calcium channel, voltage-dependent, alpha 1F subunit;CSNB2;CSNBX2
Celera Genomic Axis:         GA_x5YUV32VR6H(84779..113089)
Chromosome:                  ChrX
OMIM number:                 300110
OMIM Information:            CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT;CACNA1F


Transcript Sequence (SEQ ID NO:385):
CTCCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGA
GCYCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGRGCATCAGGCCTAGGG
ACCCCTAAGYGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCYGCCTCACCCTGGCCAATC
CTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACAT
CCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTGGAGACGGTGCTCAAGATC
GTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGC
TGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCC
ACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATYCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTC
GTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACC
CATCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTT
TGACAACTTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAA
CTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGRCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAG
AGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGA
GCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCAYAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCT
ACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGYCAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGG
CTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCRGGCACGCTGCCGTCG
GGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTC
ACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTT
CCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGGYGCCATGCAGCCCTTGGGCATCTCAGTGCT
CCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCA
TCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGRCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGC
GAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGTATCATGGCATA
TGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGTKTCTTGCCATTGCT
GTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAATGAAGGCCTGGTGC
CTGGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGA
AGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACC
AACCCGCYGAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTG
AGGACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGAC
AGTGTTTGGGGMCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATC
CACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGC
AGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCRGGGTGCAGCTCTTCAAGGG
GAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTC
CGGGAGYGGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCAC
TGCTATACAAGGCCATCGATGCATATGCAGAGGACCAYGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCAT
TGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCCRTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAG
CGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTG
CCTTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACAT
CCTCAACATGGTCTTCACTGGCCTCTTCACTATTGWGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTT
GACRCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCCTAGCTCTGAGGACAGCTCCCGCATTTCCATTAC
CTTCTTTCGCCTCTTCYGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCC
TTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGA
TAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCWTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCT
TCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCRGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATG
CTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGRTCCATCCTGGGCCCCCATCACCTTG
ATGAATTCAAGAGRATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCT
GGGATTTGGGAAGCTGTGCCSACACCGAGTGGCCTGCAAGAGACYTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACA
CTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGATCTGGAAGC
GGATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTT
CCGCAAATTCCGGCGGAGGAAAGAAWAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGAC
TTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGGACTTGGAAA
CTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGGGGACAGACTTCCAGATTCACTCTCCTT
TGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACCCACAGGAGAGGCTCTGGGGCTCTCATT
TTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGGAAGTCCCTGATCGGCTTTCCTACCTAG
ATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCC
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCMAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
YGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
SGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGG
CAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCA
GATGCGTGTCRCCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCT
CCCGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGAATTCCCACCCCTCCCCAACTGCTCAATAAACCTCCTGCCCTCCC
CTCCCCAGCAGGAGGCAGGCATGGACCAC

Protein Sequence    (SEQ ID NO:1082):
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILL
TIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGF
DVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEED
LRGYLDWITQAEELDMEDPSADDNLGPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRL
RRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLV
EVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGE
DWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREGADMEEE
EEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAF
TSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ
FMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIYNYRV
EISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQH
YEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNVRTGLALRTAPAFPLPSFASSELCGWSSFSVRVKGS
AHCSGHSSSPSRPCPMWLFSSQ


SNP Information

Context             (SEQ ID NO:6888):
GGCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTC
R
GCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGC
Celera SNP ID:            hCV25594574
SNP Position Transcript:  4235
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,30)   total(A,1|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None



Context             (SEQ ID NO:6889):
TGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAG
R
ATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGC
Celera SNP ID:            hCV25594567
SNP Position Transcript:  4414
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None



Context             (SEQ ID NO:6890):
ACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGG
Y
GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCAT
Celera SNP ID:            hCV15951602
SNP Position Transcript:  1871
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,16)   caucasian(C,27|T,7)   total(C,49|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 603, (G,GGC)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 603, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:6891):
CAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGAC
R
CTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCCTAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTC
Celera SNP ID:            hCV25594584
SNP Position Transcript:  3804
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,40)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 1248, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:6892):
AATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTCC
R
TGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATC
Celera SNP ID:            hCV25594585
SNP Position Transcript:  3451
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 1130, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:6893):
GATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTC
R
GGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCACGGG
Celera SNP ID:            hCV2227631
SNP Position Transcript:  1585
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 508, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,2|G,36)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 508, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:6894):
CTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAG
Y
GGCTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATA
Celera SNP ID:            hCV2227634
SNP Position Transcript:  3207
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 1049, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:6895):
TGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATGTGAGAACTGGCCTAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTC
Y
GAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCT
Celera SNP ID:            hCV2227635
SNP Position Transcript:  3917
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 1285, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:6896):
AGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTC
R
CCTGACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGAT
Celera SNP ID:            hCV2478069
SNP Position Transcript:  5811
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,5|G,31)   total(A,5|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1)Caucasian(A,23|G,287)   Chinese(A,7|G,51)   Japanese(A,4|G,16)   African(A,2|G,96)   total(G,450|A,36)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6897):
AGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAG
Y
GAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACG
Celera SNP ID:            hCV27531019
SNP Position Transcript:  210
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 50, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:6898):
TCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTG
R
TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCC
Celera SNP ID:            hCV2227638
SNP Position Transcript:  4375
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6899):
ACAATGTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCAGAGGACCA
Y
GGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCA
Celera SNP ID:            hCV25474379
SNP Position Transcript:  3338
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,11|T,27)   total(C,43|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 1092, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 1092, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:6900):
GGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAAGAA
W
AAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCT
Celera SNP ID:            hCV2227639
SNP Position Transcript:  4826
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6901):
CTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTG
R
CGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGACCTGCGG
Celera SNP ID:            hCV27861330
SNP Position Transcript:  1168
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 369, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:6902):
AAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGG
R
GCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCC
Celera SNP ID:            hCV25594610
SNP Position Transcript:  185
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1082, 41, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:6903):
AACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTG
W
GATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATT
Celera SNP ID:            hCV16075640
SNP Position Transcript:  3736
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 1225, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:6904):
CGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGG
M
CTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGCGCC
Celera SNP ID:            hCV27861331
SNP Position Transcript:  2812
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 917, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:6905):
CCAAAGCTGGGGGAAGAGAGGGGGGTTGTGTGCAGATGGCCCTTCAATCTCGAAAGAAAGATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGC
Y
CAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACC
Celera SNP ID:            hCV25594603
SNP Position Transcript:  103
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,6)   caucasian(C,36)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 14, (P,CCC)   (L,CTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 14, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:6906):
TCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGC
M
AGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCG
Celera SNP ID:            hCV15868769
SNP Position Transcript:  5453
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6907):
CGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAG
S
GGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGC
Celera SNP ID:            hCV16075641
SNP Position Transcript:  5601
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6908):
GCAGCAGATGGAGGAAGACCTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCCGCCGATGACAACCTTGGGCCA
Y
AGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAGC
Celera SNP ID:            hCV27859620
SNP Position Transcript:  1344
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 428, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:6909):
GCCGTCATTGGCATGCAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGC
W
TCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAA
Celera SNP ID:            hCV27861332
SNP Position Transcript:  4146
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6910):
GGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGT
K
TCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAAT
Celera SNP ID:            hCV27859621
SNP Position Transcript:  2287
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 742, (C,TGT)   (F,TTT)      



Context             (SEQ ID NO:6911):
GCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGC
Y
GAGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCC
Celera SNP ID:            hCV27859622
SNP Position Transcript:  2608
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 849, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6912):
GGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATC
R
GGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGA
Celera SNP ID:            hCV27859623
SNP Position Transcript:  3081
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 1007, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:6913):
CAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCAG
Y
CAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACC
Celera SNP ID:            hCV15963472
SNP Position Transcript:  1444
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 461, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:6914):
TCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCC
S
ACACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACA
Celera SNP ID:            hCV27859624
SNP Position Transcript:  4521
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6915):
GGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGAC
Y
TGTGGCAATGAACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAAGGG
Celera SNP ID:            hCV27859625
SNP Position Transcript:  4545
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6916):
TGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTC
Y
GCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAACTGCGT
Celera SNP ID:            hCV27859618
SNP Position Transcript:  282
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 74, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:6917):
CCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGG
Y
GAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGC
Celera SNP ID:            hCV27859626
SNP Position Transcript:  5501
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1082, None   



Context             (SEQ ID NO:6918):
AAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAAT
Y
CCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACG
Celera SNP ID:            hCV27859619
SNP Position Transcript:  747
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 229, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:6919):
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTG
R
CATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATC
Celera SNP ID:            hCV27540436
SNP Position Transcript:  2050
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1082, 663, (D,GAC)   (G,GGC)      



Gene Number:                 140
Celera Gene:                 hCG2040206 - 30000061205478
Celera Transcript:           hCT2345416 - 30000061205479
Public Transcript Accession: 
Celera Protein:              hCP1910888 - 30000061205477
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(47240186..47241243)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:386):
GAGACAGGCCCTTGGGGGTGGAGGTCTTTGATTTCATAAGAACCTGAGAAAGATTTTTCTAAGATATGTGTAACACACCAACTTACTGTGACCTGGGAAA
GGCTGCTGAGGATGTCTTCAACAAAGGATATGGCTTTGGCATGGGGAAGATAGACCTGAAAACCAAGTCCTGTAGTGCAGTGGAATTTTCTACTTCTGGT
CATGCTTACACTGATACAGGGAAAGCATCAGGCAACCTAGAACCCGAAYGTAAGGTCTGTAACTATGGACTTACCTTCACTCAAAAACGGAACACAGACA
ATACTSTTGGGACAGAAATCTCTTTGGAGAATAAGTTGGCTAAAGGGTTGAAACTGAGTCTTGATACCATATTGGTACCAAACACAGGAAAGAAGAGTGG
GGAATTGAAGGYCTCCTATAAATGGGATTGTTTTAGTGTTGGCAGTAATGTTGATCTAGATTTTTCCGGACCAACCATCTATGGCTGGGCTGTGTTGGTC
TTTGAAGGGTGGCTTGCCGGCTATCAGATGAGTTTTGACACAGCCAAATCCAAATTGTCACAGAATAATTTYGCCCTGGGTTACGAGGCTRCAGACTTCC
AGCTGCACACACATGTGACYGATGGCACTGAATTTGGAGGTTCTATCTACCAGAARGTTAATGGGATTGAAATGTCAATAAACCTTGCTTGGACRGCTGG
AGTAACAACACCCATTTTGGCATTGCTACTAAGTACAAGCTGGATTGTAGAACTTCTCTCTCTGCTAAAGTAAATAATGCCAGCCTGATTGGACTGGGTT
ATACTCAGACCCTTCGACCCGGAGTCAAATTGACCCTTTATCAGCTTTAATCGATGGAAACAACTTCAGTGCAGGAGGTCACAAGGTTGGCTTGSCRTTT
GAACTGCAAGCTTAATGTGGTTTGAGGAAAGCATCAGATTTGTCCCTGGAAGTGAAGAGAAATGAACCCACCATGTTTTGGCCCTACAATCCTTCTGTGA
AATTTCAAAAGTGTGAACTTTTTACTCTTCCAAAAAATTGTAATCCTCCCCACACTG

Protein Sequence    (SEQ ID NO:1083):
MCNTPTYCDLGKAAEDVFNKGYGFGMGKIDLKTKSCSAVEFSTSGHAYTDTGKASGNLEPECKVCNYGLTFTQKRNTDNTLGTEISLENKLAKGLKLSLD
TILVPNTGKKSGELKASYKWDCFSVGSNVDLDFSGPTIYGWAVLVFEGWLAGYQMSFDTAKSKLSQNNFALGYEAADFQLHTHVTDGTEFGGSIYQKVNG
IEMSINLAWTAGVTTPILALLLSTSWIVELLSLLK


SNP Information

Context             (SEQ ID NO:6920):
GATAGACCTGAAAACCAAGTCCTGTAGTGCAGTGGAATTTTCTACTTCTGGTCATGCTTACACTGATACAGGGAAAGCATCAGGCAACCTAGAACCCGAA
Y
GTAAGGTCTGTAACTATGGACTTACCTTCACTCAAAAACGGAACACAGACAATACTCTTGGGACAGAAATCTCTTTGGAGAATAAGTTGGCTAAAGGGTT
Celera SNP ID:            hCV25925607
SNP Position Transcript:  249
SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,23)   caucasian(C,7|T,27)   total(C,20|T,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 63, (R,CGT)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,25)   caucasian(C,6|T,30)   total(C,19|T,55)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 63, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:6921):
TTACACTGATACAGGGAAAGCATCAGGCAACCTAGAACCCGAATGTAAGGTCTGTAACTATGGACTTACCTTCACTCAAAAACGGAACACAGACAATACT
S
TTGGGACAGAAATCTCTTTGGAGAATAAGTTGGCTAAAGGGTTGAAACTGAGTCTTGATACCATATTGGTACCAAACACAGGAAAGAAGAGTGGGGAATT
Celera SNP ID:            hCV25925697
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 82, (L,CTT)   (V,GTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,34)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 82, (L,CTT)   (V,GTT)   



Context             (SEQ ID NO:6922):
GGTTATACTCAGACCCTTCGACCCGGAGTCAAATTGACCCTTTATCAGCTTTAATCGATGGAAACAACTTCAGTGCAGGAGGTCACAAGGTTGGCTTGGC
R
TTTGAACTGCAAGCTTAATGTGGTTTGAGGAAAGCATCAGATTTGTCCCTGGAAGTGAAGAGAAATGAACCCACCATGTTTTGGCCCTACAATCCTTCTG
Celera SNP ID:            hCV1292852
SNP Position Transcript:  897
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1083, None   



Context             (SEQ ID NO:6923):
ACAGAAATCTCTTTGGAGAATAAGTTGGCTAAAGGGTTGAAACTGAGTCTTGATACCATATTGGTACCAAACACAGGAAAGAAGAGTGGGGAATTGAAGG
Y
CTCCTATAAATGGGATTGTTTTAGTGTTGGCAGTAATGTTGATCTAGATTTTTCCGGACCAACCATCTATGGCTGGGCTGTGTTGGTCTTTGAAGGGTGG
Celera SNP ID:            hCV25929075
SNP Position Transcript:  412
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,2)   caucasian(C,36)   total(C,62|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 117, (A,GCC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,40)   total(C,75|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 117, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:6924):
TGGGTTATACTCAGACCCTTCGACCCGGAGTCAAATTGACCCTTTATCAGCTTTAATCGATGGAAACAACTTCAGTGCAGGAGGTCACAAGGTTGGCTTG
S
CGTTTGAACTGCAAGCTTAATGTGGTTTGAGGAAAGCATCAGATTTGTCCCTGGAAGTGAAGAGAAATGAACCCACCATGTTTTGGCCCTACAATCCTTC
Celera SNP ID:            hCV1292853
SNP Position Transcript:  895
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1083, None   



Context             (SEQ ID NO:6925):
TGTGTTGGTCTTTGAAGGGTGGCTTGCCGGCTATCAGATGAGTTTTGACACAGCCAAATCCAAATTGTCACAGAATAATTTCGCCCTGGGTTACGAGGCT
R
CAGACTTCCAGCTGCACACACATGTGACCGATGGCACTGAATTTGGAGGTTCTATCTACCAGAAGGTTAATGGGATTGAAATGTCAATAAACCTTGCTTG
Celera SNP ID:            hCV1292854
SNP Position Transcript:  591
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 177, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1083, 177, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:6926):
CAACCATCTATGGCTGGGCTGTGTTGGTCTTTGAAGGGTGGCTTGCCGGCTATCAGATGAGTTTTGACACAGCCAAATCCAAATTGTCACAGAATAATTT
Y
GCCCTGGGTTACGAGGCTGCAGACTTCCAGCTGCACACACATGTGACCGATGGCACTGAATTTGGAGGTTCTATCTACCAGAAGGTTAATGGGATTGAAA
Celera SNP ID:            hCV25925425
SNP Position Transcript:  572
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,40)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 170, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:6927):
ACTTCCAGCTGCACACACATGTGACCGATGGCACTGAATTTGGAGGTTCTATCTACCAGAAGGTTAATGGGATTGAAATGTCAATAAACCTTGCTTGGAC
R
GCTGGAGTAACAACACCCATTTTGGCATTGCTACTAAGTACAAGCTGGATTGTAGAACTTCTCTCTCTGCTAAAGTAAATAATGCCAGCCTGATTGGACT
Celera SNP ID:            hCV25926065
SNP Position Transcript:  695
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(G,40)   total(A,3|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 211, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:6928):
TGTCACAGAATAATTTCGCCCTGGGTTACGAGGCTGCAGACTTCCAGCTGCACACACATGTGACCGATGGCACTGAATTTGGAGGTTCTATCTACCAGAA
R
GTTAATGGGATTGAAATGTCAATAAACCTTGCTTGGACGGCTGGAGTAACAACACCCATTTTGGCATTGCTACTAAGTACAAGCTGGATTGTAGAACTTC
Celera SNP ID:            hCV25926020
SNP Position Transcript:  656
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,16)   caucasian(G,38)   total(A,10|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 198, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 198, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:6929):
GCTATCAGATGAGTTTTGACACAGCCAAATCCAAATTGTCACAGAATAATTTCGCCCTGGGTTACGAGGCTGCAGACTTCCAGCTGCACACACATGTGAC
Y
GATGGCACTGAATTTGGAGGTTCTATCTACCAGAAGGTTAATGGGATTGAAATGTCAATAAACCTTGCTTGGACGGCTGGAGTAACAACACCCATTTTGG
Celera SNP ID:            hCV25925524
SNP Position Transcript:  620
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,11)   caucasian(C,40)   total(C,63|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 186, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1083, 186, (T,ACC)   (T,ACT)      



Gene Number:                 141
Celera Gene:                 hCG2040354 - 209000073575643
Celera Transcript:           hCT2345564 - 209000073575644
Public Transcript Accession: 
Celera Protein:              hCP1911993 - 232000171436573
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VWPT(45556965..45557904)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:387):
ATGAGTGGGRAGAATGTCACCAAGGTCAGCACCTTCATCCTGGTGGGCCTCCCCACGGCCCCAGGGCTGCAGTACCTGCTCTTCCTCCTCTTCCTGCTCA
CCTACCTCTTTGTCCTGGTGGAGAACCTGGCCATCATCCTCAYCGTCTGGAGCAGCACCTCCCTCCACAGGCCCATGTACTACTTTCTGAGCTCCATGTC
TTTCCTGGAGATCTGGTACGTGTCTGACATCACCCCCAAGATGCTGGAGGGCTTCCTCCTCCAGCAGAAACGCATCTCTTTCGTCGGGTGCATGACGCAG
CTCTACTTCTTCAGCTCCCTGGTGTGCACCGAGTGTGTGCTTCTGGCCTCCATGGCCTACGACYGCTACGTGGCCATCTGCCACCYGCTGCGCTACCACG
TCCTTGTGACCCCGGGGCTGTGCCTCCAGCTGGTGGGCTTCTCCTTTGTGAGTGGCTTCACCATCTCCATGATCAAGGTSTGTTTTATCTCCAGCGTCAC
GTTCTGTGGCTCCAACGTCTTGAACCACTTCTTCYGTGACATTTCCCCCATCCTCAAGCTGGCCTGCACGGACTTCTCCACTGCAGAGCTGGTGGATTTC
ATYCTGGCCTTCATCATCCTGGTGTTTCCGCTCCTGGCCACCATACTGYCATATTGGCACATCACCCYGGCTGTCCTGYGCATCCCCTCGGCCACCGGCT
GCTGGAGAGCCTTCTCTACCTGCGCCTCTCACCTCACCGTGGTCACCGTCTTCTATACAGCCTTGCTTTTCATGTATGTCCGGCCCCAAGCCATTGATTC
CCWGAGCTCCAACAAGCTCATCTCTGCCGTGTACRCTGTTGTCACGCCAATAATTAACCCTTTGATTTACTGCCTGAGGAACAAGGAATTTAAGGACGCC
TTGAAAAAGGCCTTGGGCTTGGGTCAAACTTCACACTAA

Protein Sequence    (SEQ ID NO:1084):
MSGENVTKVSTFILVGLPTAPGLQYLLFLLFLLTYLFVLVENLAIILIVWSSTSLHRPMYYFLSSMSFLEIWYVSDITPKMLEGFLLQQKRISFVGCMTQ
LYFFSSLVCTECVLLASMAYDRYVAICHPLRYHVLVTPGLCLQLVGFSFVSGFTISMIKVCFISSVTFCGSNVLNHFFCDISPILKLACTDFSTAELVDF
ILAFIILVFPLLATILSYWHITLAVLRIPSATGCWRAFSTCASHLTVVTVFYTALLFMYVRPQAIDSQSSNKLISAVYTVVTPIINPLIYCLRNKEFKDA
LKKALGLGQTSH


SNP Information

Context             (SEQ ID NO:6930):
GGGCTTCTCCTTTGTGAGTGGCTTCACCATCTCCATGATCAAGGTCTGTTTTATCTCCAGCGTCACGTTCTGTGGCTCCAACGTCTTGAACCACTTCTTC
Y
GTGACATTTCCCCCATCCTCAAGCTGGCCTGCACGGACTTCTCCACTGCAGAGCTGGTGGATTTCATCCTGGCCTTCATCATCCTGGTGTTTCCGCTCCT
Celera SNP ID:            hCV25642732
SNP Position Transcript:  535
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,23)   caucasian(C,13|T,27)   total(C,20|T,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 179, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:6931):
GCCACCCGCTGCGCTACCACGTCCTTGTGACCCCGGGGCTGTGCCTCCAGCTGGTGGGCTTCTCCTTTGTGAGTGGCTTCACCATCTCCATGATCAAGGT
S
TGTTTTATCTCCAGCGTCACGTTCTGTGGCTCCAACGTCTTGAACCACTTCTTCTGTGACATTTCCCCCATCCTCAAGCTGGCCTGCACGGACTTCTCCA
Celera SNP ID:            hCV25642733
SNP Position Transcript:  480
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1084, 160, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:6932):
CACTGCAGAGCTGGTGGATTTCATCCTGGCCTTCATCATCCTGGTGTTTCCGCTCCTGGCCACCATACTGTCATATTGGCACATCACCCTGGCTGTCCTG
Y
GCATCCCCTCGGCCACCGGCTGCTGGAGAGCCTTCTCTACCTGCGCCTCTCACCTCACCGTGGTCACCGTCTTCTATACAGCCTTGCTTTTCATGTATGT
Celera SNP ID:            hCV25642717
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 227, (R,CGC)   (C,TGC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 227, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:6933):
ACGGACTTCTCCACTGCAGAGCTGGTGGATTTCATCCTGGCCTTCATCATCCTGGTGTTTCCGCTCCTGGCCACCATACTGTCATATTGGCACATCACCC
Y
GGCTGTCCTGCGCATCCCCTCGGCCACCGGCTGCTGGAGAGCCTTCTCTACCTGCGCCTCTCACCTCACCGTGGTCACCGTCTTCTATACAGCCTTGCTT
Celera SNP ID:            hCV25642718
SNP Position Transcript:  668
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 223, (P,CCG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 223, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:6934):
CATCCTCAAGCTGGCCTGCACGGACTTCTCCACTGCAGAGCTGGTGGATTTCATCCTGGCCTTCATCATCCTGGTGTTTCCGCTCCTGGCCACCATACTG
Y
CATATTGGCACATCACCCTGGCTGTCCTGCGCATCCCCTCGGCCACCGGCTGCTGGAGAGCCTTCTCTACCTGCGCCTCTCACCTCACCGTGGTCACCGT
Celera SNP ID:            hCV25642719
SNP Position Transcript:  649
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,22)   caucasian(T,40)   total(C,2|T,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 217, (P,CCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,40)   total(C,3|T,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 217, (P,CCA)   (S,TCA)   



Context             (SEQ ID NO:6935):
GGGTGCATGACGCAGCTCTACTTCTTCAGCTCCCTGGTGTGCACCGAGTGTGTGCTTCTGGCCTCCATGGCCTACGACCGCTACGTGGCCATCTGCCACC
Y
GCTGCGCTACCACGTCCTTGTGACCCCGGGGCTGTGCCTCCAGCTGGTGGGCTTCTCCTTTGTGAGTGGCTTCACCATCTCCATGATCAAGGTCTGTTTT
Celera SNP ID:            hCV25642743
SNP Position Transcript:  386
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,38)   total(C,69|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 129, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:6936):
GCAGAAACGCATCTCTTTCGTCGGGTGCATGACGCAGCTCTACTTCTTCAGCTCCCTGGTGTGCACCGAGTGTGTGCTTCTGGCCTCCATGGCCTACGAC
Y
GCTACGTGGCCATCTGCCACCCGCTGCGCTACCACGTCCTTGTGACCCCGGGGCTGTGCCTCCAGCTGGTGGGCTTCTCCTTTGTGAGTGGCTTCACCAT
Celera SNP ID:            hCV25642744
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,26|T,12)   total(C,53|T,17)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 122, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:6937):
TGGAGAGCCTTCTCTACCTGCGCCTCTCACCTCACCGTGGTCACCGTCTTCTATACAGCCTTGCTTTTCATGTATGTCCGGCCCCAAGCCATTGATTCCC
W
GAGCTCCAACAAGCTCATCTCTGCCGTGTACACTGTTGTCACGCCAATAATTAACCCTTTGATTTACTGCCTGAGGAACAAGGAATTTAAGGACGCCTTG
Celera SNP ID:            hCV25642745
SNP Position Transcript:  803
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,34)   total(A,67|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 268, (Q,CAG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 268, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:6938):
ATGAGTGGG
R
AGAATGTCACCAAGGTCAGCACCTTCATCCTGGTGGGCCTCCCCACGGCCCCAGGGCTGCAGTACCTGCTCTTCCTCCTCTTCCTGCTCACCTACCTCTT
Celera SNP ID:            hCV25642704
SNP Position Transcript:  10
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 4, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:6939):
TCTGTGGCTCCAACGTCTTGAACCACTTCTTCTGTGACATTTCCCCCATCCTCAAGCTGGCCTGCACGGACTTCTCCACTGCAGAGCTGGTGGATTTCAT
Y
CTGGCCTTCATCATCCTGGTGTTTCCGCTCCTGGCCACCATACTGTCATATTGGCACATCACCCTGGCTGTCCTGCGCATCCCCTCGGCCACCGGCTGCT
Celera SNP ID:            hCV25642730
SNP Position Transcript:  603
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1084, 201, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:6940):
GTGGGCCTCCCCACGGCCCCAGGGCTGCAGTACCTGCTCTTCCTCCTCTTCCTGCTCACCTACCTCTTTGTCCTGGTGGAGAACCTGGCCATCATCCTCA
Y
CGTCTGGAGCAGCACCTCCCTCCACAGGCCCATGTACTACTTTCTGAGCTCCATGTCTTTCCTGGAGATCTGGTACGTGTCTGACATCACCCCCAAGATG
Celera SNP ID:            hCV25642705
SNP Position Transcript:  143
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,4|T,36)   total(C,10|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 48, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:6941):
CACCGTGGTCACCGTCTTCTATACAGCCTTGCTTTTCATGTATGTCCGGCCCCAAGCCATTGATTCCCAGAGCTCCAACAAGCTCATCTCTGCCGTGTAC
R
CTGTTGTCACGCCAATAATTAACCCTTTGATTTACTGCCTGAGGAACAAGGAATTTAAGGACGCCTTGAAAAAGGCCTTGGGCTTGGGTCAAACTTCACA
Celera SNP ID:            hCV25642731
SNP Position Transcript:  835
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 279, (T,ACT)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,28)   caucasian(A,39|G,1)   total(A,67|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1084, 279, (T,ACT)   (A,GCT)   



Gene Number:                 142
Celera Gene:                 hCG2040644 - 209000073578058
Celera Transcript:           hCT2345875 - 209000073578059
Public Transcript Accession: 
Celera Protein:              hCP1912050 - 232000171436630
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W802(39999667..40016900)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:388):
AAAGCGCAGTATTCGGGTGGGAGTGACCCGATTTTCCAGGTTATCCAAGCCCAGAAGTGTTACCAGAAAGGGGACCGGATCCAGACCCCAAGAGAGGGTT
CTTGGATCTCATGCAAAAAAAGAATTCAGGGATTGGCTGTCAACATTTAAATATCAAGAYTTYGGAGCGGGGCGCGATGGCTCACGCCTGTGATCCCAGC
ACTTTGGCAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAAACACAGTGAAACCCCGTCTCTACTAAAMATAC

Protein Sequence    (SEQ ID NO:1085):
PDFPGYPSPEVLPERGPDPDPKRGFLDLMQKKNSGIGCQHLNIKISERGAMAHACDPSTLAGRGGQITRSGDRNTVKPRLY


SNP Information

Context             (SEQ ID NO:6942):
GCGATGGCTCACGCCTGTGATCCCAGCACTTTGGCAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAAACACAGTGAAACCCCGTCTCTACTAAA
M
ATAC
Celera SNP ID:            hCV8362512
SNP Position Transcript:  274
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,13)   caucasian(C,8)   total(A,7|C,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1085, None



Context             (SEQ ID NO:6943):
TTACCAGAAAGGGGACCGGATCCAGACCCCAAGAGAGGGTTCTTGGATCTCATGCAAAAAAAGAATTCAGGGATTGGCTGTCAACATTTAAATATCAAGA
Y
TTCGGAGCGGGGCGCGATGGCTCACGCCTGTGATCCCAGCACTTTGGCAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAAACACAGTGAAACCC
Celera SNP ID:            hCV25940079
SNP Position Transcript:  160
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,18)   caucasian(T,8)   total(C,2|T,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1085, 45, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:6944):
CCAGAAAGGGGACCGGATCCAGACCCCAAGAGAGGGTTCTTGGATCTCATGCAAAAAAAGAATTCAGGGATTGGCTGTCAACATTTAAATATCAAGATTT
Y
GGAGCGGGGCGCGATGGCTCACGCCTGTGATCCCAGCACTTTGGCAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAAACACAGTGAAACCCCGT
Celera SNP ID:            hCV8362510
SNP Position Transcript:  163
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,5)   caucasian(C,8)   total(C,19|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1085, 46, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1085, 46, (S,TCG)   (L,TTG)      



Gene Number:                 143
Celera Gene:                 hCG2041028 - 209000073581653
Celera Transcript:           hCT2346259 - 209000073581654
Public Transcript Accession: NM_152280
Celera Protein:              hCP1912864 - 232000171437444
Public Protein Accession:    NP_689493
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VSLS(5551598..5575482)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:389):
AGCACCACACCTAGTTAATTTTTTGTATTTTTGATAGAGATGGAGTTTCGTCATGTAGCCCAGGCTGGCTGTTGCTATAACGTTTTTGCAATGGTRAGAC
AGCTCTGGGAACCCTCGGTCAGTACCGASGCAGCAGCTGTAGAGCTCTAGGTCAGGGAAGGGGGAAGGTATCCAGCGGACGCCTCCTGCGACGGTCCGGC
CCCTAGTTGTCAGCTGCGCTCAGCTCTTAAGATGCTCCGGGGATGCKCTGAGCTAAGGATGCAGGTGCAGTCAGACTGGTCCTGATGAGAGGTAGGCTC

Protein Sequence    (SEQ ID NO:1086):
FFVFLIEMEFRHVAQAGCCYNVFAMVRQLWEPSVSTEAAAVEL


SNP Information

Context             (SEQ ID NO:6945):
AGCACCACACCTAGTTAATTTTTTGTATTTTTGATAGAGATGGAGTTTCGTCATGTAGCCCAGGCTGGCTGTTGCTATAACGTTTTTGCAATGGT
R
AGACAGCTCTGGGAACCCTCGGTCAGTACCGAGGCAGCAGCTGTAGAGCTCTAGGTCAGGGAAGGGGGAAGGTATCCAGCGGACGCCTCCTGCGACGGTC
Celera SNP ID:            hCV9102201
SNP Position Transcript:  96
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(A,17|G,21)   total(A,23|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1086, 26, (V,GTA)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,2)      total(G,1|A,2) ;JBIC-allele(G,350|A,1125)   total(G,350|A,1125)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1086, 26, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:6946):
CTAGGTCAGGGAAGGGGGAAGGTATCCAGCGGACGCCTCCTGCGACGGTCCGGCCCCTAGTTGTCAGCTGCGCTCAGCTCTTAAGATGCTCCGGGGATGC
K
CTGAGCTAAGGATGCAGGTGCAGTCAGACTGGTCCTGATGAGAGGTAGGCTC
Celera SNP ID:            hCV9630763
SNP Position Transcript:  247
SNP Source:               Applera
Population(Allele,Count): african american(G,6|T,26)   caucasian(T,32)   total(G,6|T,58)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1086, None

SNP Source:               Applera
Population(Allele,Count): african american(G,5|T,27)   caucasian(T,38)   total(G,5|T,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1086, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1086, None   



Context             (SEQ ID NO:6947):
TTTTGATAGAGATGGAGTTTCGTCATGTAGCCCAGGCTGGCTGTTGCTATAACGTTTTTGCAATGGTGAGACAGCTCTGGGAACCCTCGGTCAGTACCGA
S
GCAGCAGCTGTAGAGCTCTAGGTCAGGGAAGGGGGAAGGTATCCAGCGGACGCCTCCTGCGACGGTCCGGCCCCTAGTTGTCAGCTGCGCTCAGCTCTTA
Celera SNP ID:            hCV25645839
SNP Position Transcript:  129
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(G,38)   total(C,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1086, 37, (D,GAC)   (E,GAG)   



Gene Number:                 144
Celera Gene:                 hCG2041082 - 209000073582138
Celera Transcript:           hCT2346313 - 209000073582139
Public Transcript Accession: 
Celera Protein:              hCP1910807 - 232000171425227
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY6P(2375586..2377304)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:390):
AGGATTCTCCCGAGCCCCTGAAAAAAAAAAAAGGTGGAGAGACTTTGAAAACTTTTCTCTCGAAAAGTCTGAGGAGGCAGAGGACGGCCCGGAGTCTCGT
AGCGCACCGCCCTGGTCCCACACCCCCCGCAGCCCTAGGAGGATCGGTGTGCTGAGCTTGTGGCCAGGAGCTCCCCGAGCCACTTTCGCGCGAGCAGCAG
AAAACCTGAGCCGCGGCCCGGCGAGTGTCGGCGGCGCTCTGGGGAGGAGAGGCTGGGAAGGGGCTGCGAGAGATGCTRCTTAAGAACGTGAGGCTGAGAG
GCGGACTTGGTCAGATCTGCCTGCGTGACAAGCTCAGGACAGGACGCTTCTGCCCTTGCATTACTGTTGTAAAAGTTTCCACCCAGTCCCTGGTCGCACT
GCGTTCCCATCCCGGCAGATGTGAACTCAAAAACTTCCTCCGCTGTGCAGTTTCAATTGGCAGACACACCCTGTACCTGAATGACTCAGAAGGAGGCAGA
ATGAACAAACAACAGACCCCTGACTTCTGGGATTTTGTGAGTTTGCCAAAAAAAAAAAAAAAAGAAGTATATTGTGTCTACCCAGCAMAACAAAACGGGG
GACTTGGCATTCCCCCCCTTCTCCCGCCTCCACMCACACTAATTTATGCATTCTTTAAAGCCAAAGGAATCAAAGTGAAATTTCACACCTAGTCTGTATC
AAGCATGTGCTAGGTTAATTTAACCTTACTGCTCTGTGAAGTAAGTAAGCATTGCTGGCCATTTTATTGTTGAGAGAAGTGTCATTCAGACAACTAAGGT
GACTTGTAGATTTCCCAGCTAGTGAGTGGCAGAGCTGGGTTCCAAAACCTAAATATTGCAAATGCCTTGCCTTGTGGCTCAAACGCTATCAGTCAATAAA
TAGTTAAGGAATTGAAATATATGTTCCTAGAGGGAAACAGACTTCTAGATTTAAAGTTTTACATTTGCTGCATTTCTGACTGTACAAGTCTACAAAATGC
ATATAAAAGTATGCTAATGAATGTCCTTTTAAAACCACTCATTTTCTACGTAAGCATACAAAGTGTATACATATGCATATTAATGAATGTTTTCTGA

Protein Sequence    (SEQ ID NO:1087):
AAARRVSAALWGGEAGKGLREMLLKNVRLRGGLGQICLRDKLRTGRFCPCITVVKVSTQSLVALRSHPGRCELKNFLRCAVSIGRHTLYLNDSEGGRMNK
QQTPDFWDFVSLPKKKKKEVYCVYPAQQNGGLGIPPLLPPPPTLIYAFFKAKGIKVKFHT


SNP Information

Context             (SEQ ID NO:6948):
AGGATTCTCCCGAGCCCCTG
A
AAAAAAAAAAAGGTGGAGAGACTTTGAAAACTTTTCTCTCGAAAAGTCTGAGGAGGCAGAGGACGGCCCGGAGTCTCGTAGCGCACCGCCCTGGTCCCAC
Celera SNP ID:            hCV11619012
SNP Position Transcript:  21
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|A,3)   total(A,3|-,2) 
SNP Type:                 PUTATIVE UTR 5
Protein Coding:           SEQ ID NO:1087, None   



Context             (SEQ ID NO:6949):
AGCCACTTTCGCGCGAGCAGCAGAAAACCTGAGCCGCGGCCCGGCGAGTGTCGGCGGCGCTCTGGGGAGGAGAGGCTGGGAAGGGGCTGCGAGAGATGCT
R
CTTAAGAACGTGAGGCTGAGAGGCGGACTTGGTCAGATCTGCCTGCGTGACAAGCTCAGGACAGGACGCTTCTGCCCTTGCATTACTGTTGTAAAAGTTT
Celera SNP ID:            hCV1271372
SNP Position Transcript:  278
SNP Source:               Applera
Population(Allele,Count): african american(A,10)   caucasian(A,8|G,2)   total(A,18|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1087, 23, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,7)   caucasian(A,20|G,16)   total(A,43|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1087, 23, (L,CTA)   (L,CTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1087, 23, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:6950):
AGAAGGAGGCAGAATGAACAAACAACAGACCCCTGACTTCTGGGATTTTGTGAGTTTGCCAAAAAAAAAAAAAAAAGAAGTATATTGTGTCTACCCAGCA
M
AACAAAACGGGGGACTTGGCATTCCCCCCCTTCTCCCGCCTCCACCCACACTAATTTATGCATTCTTTAAAGCCAAAGGAATCAAAGTGAAATTTCACAC
Celera SNP ID:            hCV25968061
SNP Position Transcript:  588
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,38)   total(A,1|C,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1087, 127, (K,AAA)   (Q,CAA)   



Context             (SEQ ID NO:6951):
TTTGTGAGTTTGCCAAAAAAAAAAAAAAAAGAAGTATATTGTGTCTACCCAGCACAACAAAACGGGGGACTTGGCATTCCCCCCCTTCTCCCGCCTCCAC
M
CACACTAATTTATGCATTCTTTAAAGCCAAAGGAATCAAAGTGAAATTTCACACCTAGTCTGTATCAAGCATGTGCTAGGTTAATTTAACCTTACTGCTC
Celera SNP ID:            hCV11450563
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(A,14|C,22)   caucasian(A,16|C,22)   total(A,30|C,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1087, 142, (H,CAC)   (P,CCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1087, 142, (H,CAC)   (P,CCC)      



Gene Number:                 145
Celera Gene:                 hCG2041260 - 209000073583808
Celera Transcript:           hCT2346491 - 209000073583809
Public Transcript Accession: NM_004975
Celera Protein:              hCP1912807 - 232000171437387
Public Protein Accession:    NP_004966
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VYHA(14909717..14966022)
Chromosome:                  Chr20
OMIM number:                 600397
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;KCNB1


Transcript Sequence (SEQ ID NO:391):
ATGGGCATGCGTGGCGTGGCGCGAATCCTGTCCCTGTCGCTCGTCCTGGCCGCGGTGGCCACGGGGGCCTGGGAGCGGGGGCCGCTGGGCGTGCTCTTGC
CCTGGCAGGGCTCCGCCGCGCTGGGCCGCTGCTGTCCTGGCCGTGACCCGATGTTTGTCGCCCGCGGGCCCCCGCGCTGCTTCTGCGACCAAGCGTGCGG
CGCGGCGCGGCGCGGGACTGCTGCGCAGACTATACGCGGGTCTGCCCAGSCAGCTACGGGAAAGAGTGGGAAAAGTGAGATAGTCCCAAGAAACAGGCAA
CAGCAGGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAATCACCAGGACTCCTGCAATGCAGCAGAGTCCCCCAACAATTTTCCCCAGG
AGAGTCTTGGGGTAGATGTCTCCATACCCAACAGTAGTCATGGTGATGGTGGCCCACCAGAAAGAGGCTGGGATGCTTTTGAACTTGGTGTCGTCCTCAT
CCTTCTCAGCAAAGAAGACAAGGCTGGAGAAGATCATAATGCCCATGGCAAGGAAGAGGATGAGCAAGCCCAACTCATTGTAGCTCCTCCGCAAAGTGAA
GCCCAGAGACTGGAGGCCAGTGGAGTGGCGTGCAAGCTTAAGGATGCGGAGAATTCGCATGATGCGGAAGATCT

Protein Sequence    (SEQ ID NO:1088):
MGMRGVARILSLSLVLAAVATGAWERGPLGVLLPWQGSAALGRCCPGRDPMFVARGPPRCFCDQACGAARRGTAAQTIRGSAQAATGKSGKSEIVPRNRQ
QQELREVIDDDGDGKSNHQDSCNAAESPNNFPQESLGVDVSIPNSSHGDGGPPERGWDAFELGVVLILLSKEDKAGEDHNAHGKEEDEQAQLIVAPPQSE
AQRLEASGVACKLKDAENSHDAEDX


SNP Information

Context             (SEQ ID NO:6952):
GATGTTTGTCGCCCGCGGGCCCCCGCGCTGCTTCTGCGACCAAGCGTGCGGCGCGGCGCGGCGCGGGACTGCTGCGCAGACTATACGCGGGTCTGCCCAG
S
CAGCTACGGGAAAGAGTGGGAAAAGTGAGATAGTCCCAAGAAACAGGCAACAGCAGGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAA
Celera SNP ID:            hCV25988879
SNP Position Transcript:  250
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,17)   caucasian(C,3|G,21)   total(C,6|G,38)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1088, None



Gene Number:                 146
Celera Gene:                 hCG2041412 - 209000073585028
Celera Transcript:           hCT2346643 - 209000073585029
Public Transcript Accession: NM_138351
Celera Protein:              hCP1911124 - 232000171425544
Public Protein Accession:    NP_612360
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY4T(1885683..1889214)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:392):
ATGAACCCCCACCTCTACTCCCAAAAGCAATCCAAAGGACCCGTCATTAACGCCCCGCTTCCTCAGCGACTGCGTTCAAATACAGCCCCAATCAGGACGC
TCCACGCACCATCGGTACACAGACCCACAGGCCGCGAGTCCATGCCCAGAACTCGACTCACCCGAGCCCGAACCTCTCCAGACACCACTGGCAGCGACAA
AACGCCGCATCCACGTCCGAAAACGCTTCCTATTCAGACGCGCTCCTGCGCGGACTCCGGGAAGCTGAGCGGTAAAGACCGTGAAGCGAGGCGAGGACCA
CGGAGCCTGCCCGGRATCGCGAGTTCAGACTGCGGGCGCCGCTCTATGAGGTCACAGGGYTGCGCCCATCGCAGCGTTTCTGACAGGAGCGGCCATAATG
GCTGTGGGAATCACTCTTAGTCACCTCAGTGCCTTTCTCTCTTCGTTGCAAGGGACACTCAAGAGTCGGGTGCCCAGCCAAGGCCAACACGGCGCAGTGG
CATTCTATTCAGCCTGCTGTGGAAAAAAGATGGCGGCGCCCTTTGTGCCCATTATAGCTGAGAGTGGAGCCTTAGCTGGAGCACCATGGGCACGGCCATC
TTAGAGGAAGGCAGCAGCCGTACGGCAGAGAAGATGCTCATATCCAGGACAATTTGGAAAAATAAACAAGGTTTGAAGAAGTCACGGTGCTGGCCAGGAA
GCGGTCACAGAGTTGCCAAAACCAGTGGTCACTGAAAGTGTTAGATTTGGGGATAGGGCGGGGGTTCTGGGCTGGGTAAGGCTTTTGTGGGTTAGATTAG
ACTCTGACTGAATGGACGAAGCCGAGAACAGGAGTGATGCTCCATTAAATGCTAATACCCACATGGGGCTTGCTATTAAAACCACTGCCAGTGGGGAAGG
GGATGAGGAGGTGAAGGTGCAACTGTGTTAATATCTAYATGTTTCCTTCCAGAAGTAAAGGAAGATGACAGTGGGGCACTTAAGAATATGAAATTATTAG
AATGCGATCATCCTACTTTGCAATGTTTCCAGATTTTTT

Protein Sequence    (SEQ ID NO:1089):
MNPHLYSQKQSKGPVINAPLPQRLRSNTAPIRTLHAPSVHRPTGRESMPRTRLTRARTSPDTTGSDKTPHPRPKTLPIQTRSCADSGKLSGKDREARRGP
RSLPGIASSDCGRRSMRSQGCAHRSVSDRSGHNGCGNHS


SNP Information

Context             (SEQ ID NO:6953):
GTCCGAAAACGCTTCCTATTCAGACGCGCTCCTGCGCGGACTCCGGGAAGCTGAGCGGTAAAGACCGTGAAGCGAGGCGAGGACCACGGAGCCTGCCCGG
R
ATCGCGAGTTCAGACTGCGGGCGCCGCTCTATGAGGTCACAGGGCTGCGCCCATCGCAGCGTTTCTGACAGGAGCGGCCATAATGGCTGTGGGAATCACT
Celera SNP ID:            hCV25988442
SNP Position Transcript:  315
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,32)   total(A,2|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1089, 105, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:6954):
GGAAGCTGAGCGGTAAAGACCGTGAAGCGAGGCGAGGACCACGGAGCCTGCCCGGGATCGCGAGTTCAGACTGCGGGCGCCGCTCTATGAGGTCACAGGG
Y
TGCGCCCATCGCAGCGTTTCTGACAGGAGCGGCCATAATGGCTGTGGGAATCACTCTTAGTCACCTCAGTGCCTTTCTCTCTTCGTTGCAAGGGACACTC
Celera SNP ID:            hCV25988525
SNP Position Transcript:  360
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,32)   total(C,62|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1089, 120, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:6955):
TGCTCCATTAAATGCTAATACCCACATGGGGCTTGCTATTAAAACCACTGCCAGTGGGGAAGGGGATGAGGAGGTGAAGGTGCAACTGTGTTAATATCTA
Y
ATGTTTCCTTCCAGAAGTAAAGGAAGATGACAGTGGGGCACTTAAGAATATGAAATTATTAGAATGCGATCATCCTACTTTGCAATGTTTCCAGATTTTT
Celera SNP ID:            hCV15879968
SNP Position Transcript:  938
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,552|C,935)   total(C,935|T,552) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1089, None   



Gene Number:                 147
Celera Gene:                 hCG2042050 - 209000073590915
Celera Transcript:           hCT2347281 - 209000073590916
Public Transcript Accession: 
Celera Protein:              hCP1910825 - 232000171425245
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VU2L(3052107..3053394)
Chromosome:                  Chr16
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:393):
CAAGGAGTAATGCTGCTTTTCACACAGAAAGGGCTTCTACTGTGCCTGACCTTAAGACAGGAAAAGTAGGGGAGCTAAGGAAGCTACCTACACCRCCCTC
ACCCCCAGTAGCCAGGCTCAGGAAGGAAGAGGCACAGCGGTGTGAATGGATGGAGAAGAGGAGGCYGGTAGGCTGAGCCCCTGGCTCCTGGAAYGAACAC
ACAGCCATGGCAGAGGAGAATGTGGCTTGAATAGGTTCCATGACTTGTACAAGACCACAGCTGGTACATGATGAAGCAAGGACAAGACACGGGCATCTGA
CCTCAAGAGTCTCTCCAATCATGAAATACCTGTATGAGTTATCTATTGCTGCATAACAAATTGCCCCAATATTTAGCAGCTTAGGAGCAGGATTGCTGGA
ATGGTGGGATAAAACTTAGTGGCTTAAAACAACA

Protein Sequence    (SEQ ID NO:1090):
RSNAAFHTERASTVPDLKTGKVGELRKLPTPPSPPVARLRKEEAQRCEWMEKRRPVG


SNP Information

Context             (SEQ ID NO:6956):
CGCCCTCACCCCCAGTAGCCAGGCTCAGGAAGGAAGAGGCACAGCGGTGTGAATGGATGGAGAAGAGGAGGCCGGTAGGCTGAGCCCCTGGCTCCTGGAA
Y
GAACACACAGCCATGGCAGAGGAGAATGTGGCTTGAATAGGTTCCATGACTTGTACAAGACCACAGCTGGTACATGATGAAGCAAGGACAAGACACGGGC
Celera SNP ID:            hCV16183633
SNP Position Transcript:  194
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,294|C,1191)   total(C,1191|T,294) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1090, None   



Context             (SEQ ID NO:6957):
GTAGGGGAGCTAAGGAAGCTACCTACACCGCCCTCACCCCCAGTAGCCAGGCTCAGGAAGGAAGAGGCACAGCGGTGTGAATGGATGGAGAAGAGGAGGC
Y
GGTAGGCTGAGCCCCTGGCTCCTGGAACGAACACACAGCCATGGCAGAGGAGAATGTGGCTTGAATAGGTTCCATGACTTGTACAAGACCACAGCTGGTA
Celera SNP ID:            hCV27097539
SNP Position Transcript:  166
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,246|C,1239)   total(C,1239|T,246) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1090, 55, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6958):
CAAGGAGTAATGCTGCTTTTCACACAGAAAGGGCTTCTACTGTGCCTGACCTTAAGACAGGAAAAGTAGGGGAGCTAAGGAAGCTACCTACACC
R
CCCTCACCCCCAGTAGCCAGGCTCAGGAAGGAAGAGGCACAGCGGTGTGAATGGATGGAGAAGAGGAGGCCGGTAGGCTGAGCCCCTGGCTCCTGGAACG
Celera SNP ID:            hCV27097540
SNP Position Transcript:  95
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1090, 31, (P,CCA)   (P,CCG)      



Gene Number:                 148
Celera Gene:                 hCG2042176 - 209000073594729
Celera Transcript:           hCT2347407 - 209000073594730
Public Transcript Accession: NM_014100
Celera Protein:              hCP1912254 - 232000171436834
Public Protein Accession:    NP_054819
Gene Symbol:                 PRO1770
Protein Name:                PRO1770 protein
Celera Genomic Axis:         GA_x5YUV32VT8U(2668958..2670407)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:394):
TGCATAAAACATTTTTTTTTAATTACCATTTTTAAAGTTACATTTTGTGTCATCATCTCTCCCACCACTCAAGAAATCTGAGATTTACCTTTGGATTCTA
CTTTTTTCCATAACTCTAAACAGCAATCTGCAGTCATGTCCTTTTGATCCCATCTCTTAATATTTCCTGTTGACTTCTGTTCATTCCTATTGCAAGGAAC
ATTATTGYTGCCTTTGATAAGGCCATTATCATTTTTCTCTCRTATCTTCCTAATATGCATTTTTTTAACCAGTCTTCCTGCCTCCAGTCTTGCCTCCTCM
AATCGATCCTTGATGCTGCCAAAGTGGTATTTGTGAAATGCAGTTTAGCATGCTGCTTCAGCTTTGTAATTGTTTCTCCTAATGGTCAAACCCAAACTCC
TTCTTGTAGCACGGAGGTTCTTAGGTGATTAGCACACTTCCCCTCCCCATCTTCCCACTTAATTTCTCCATATTTCTTCTTCCCCTTTTAGGTAAACTTA
CTGGTCCTTGCTCTATRAAGTTTCTCCTAAAAGTCACCCCTTTCACCACTGTGTCCTTTTACACACTTTGTACAAGTTACTTCTAACAGTGATTTGCTTA
CATGTTTGTCCTCCCCACATCTAGCCCAGTGAYTGGTTCAAAAAAGGCACTAAAAAAATGGATAAAATTAAATATATTACTCTTAATGATTAGTGTAATA
TAAATATTTACACCCCATATCTAAGTTCTGGCTCTAAGCAAAAGGGTTCATCTCTCCTCAAGCCCTTAAAATCACTTTAGAAACTCTTCAACTTCTAATT
CAACATATTCTGACACTAAACACAAATAGSCAGTCTTAACTTGCTTGGAAAACCACATGGTTTAAATGTACTATAACCCTTTCCCAAATAAGAGCTGCTA
TTATGAGGCATTAATGTACAGACCGTTTCATATGTATACTTGGTTGCTTAGGAACAMAGATAATTCCAGTTCCAGAATAYATGAATTGCAGAATTAGTAA
CTTCTGTTAAAGATAATTGGAGGTTAAGASAATTAGTCAGGGAAGCTGAAAAAGGAAACTAAAGTTAGAGACAGAAACTAAGTAAAGATAAGAAAAATGA
GCTTTACAAAGCTACTCTAGTGGCATCTGGGAGCAGAAAAATCCAATTTGTTTCTAAGACGGTAATGAAAGTGAAATCCAAGATCAACAATCTTGTCATA
AAATTAACAAGGAATTTAACATACAAATGAGGGACCAGGAGTAGCTGTCATTTGATATGTATCGTAGCTATAGCAAAATGAAATAATGTGCAAGCTTCTC
ACTTATTGAGTTTAGTGGCATAGGAAATCTTTGTTTGCAAGCACATGATAGGAAATGGAAATTTACAGTACATTAGAGAAGGTACATTGGAGTTATCGAT
AGAGTTTTTATCACATATCCAATACTTAATGAGTAGCAGTTGGAATTAG

Protein Sequence    (SEQ ID NO:1091):
LLFIPIARNIIAAFDKAIIIFLSYLPNMHFFNQSSCLQSCLLQSILDAAKVVFVKCSLACCFSFVIVSPNGQTQTPSCSTEVLR


SNP Information

Context             (SEQ ID NO:6959):
GGCTCTAAGCAAAAGGGTTCATCTCTCCTCAAGCCCTTAAAATCACTTTAGAAACTCTTCAACTTCTAATTCAACATATTCTGACACTAAACACAAATAG
S
CAGTCTTAACTTGCTTGGAAAACCACATGGTTTAAATGTACTATAACCCTTTCCCAAATAAGAGCTGCTATTATGAGGCATTAATGTACAGACCGTTTCA
Celera SNP ID:            hCV28984131
SNP Position Transcript:  830
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None   



Context             (SEQ ID NO:6960):
TTTCCCAAATAAGAGCTGCTATTATGAGGCATTAATGTACAGACCGTTTCATATGTATACTTGGTTGCTTAGGAACAAAGATAATTCCAGTTCCAGAATA
Y
ATGAATTGCAGAATTAGTAACTTCTGTTAAAGATAATTGGAGGTTAAGAGAATTAGTCAGGGAAGCTGAAAAAGGAAACTAAAGTTAGAGACAGAAACTA
Celera SNP ID:            hCV27519890
SNP Position Transcript:  980
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None   



Context             (SEQ ID NO:6961):
ATATGTATACTTGGTTGCTTAGGAACAAAGATAATTCCAGTTCCAGAATATATGAATTGCAGAATTAGTAACTTCTGTTAAAGATAATTGGAGGTTAAGA
S
AATTAGTCAGGGAAGCTGAAAAAGGAAACTAAAGTTAGAGACAGAAACTAAGTAAAGATAAGAAAAATGAGCTTTACAAAGCTACTCTAGTGGCATCTGG
Celera SNP ID:            hCV27492918
SNP Position Transcript:  1030
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None   



Context             (SEQ ID NO:6962):
GTTCTTAGGTGATTAGCACACTTCCCCTCCCCATCTTCCCACTTAATTTCTCCATATTTCTTCTTCCCCTTTTAGGTAAACTTACTGGTCCTTGCTCTAT
R
AAGTTTCTCCTAAAAGTCACCCCTTTCACCACTGTGTCCTTTTACACACTTTGTACAAGTTACTTCTAACAGTGATTTGCTTACATGTTTGTCCTCCCCA
Celera SNP ID:            hCV25750378
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38)   total(A,74|G,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None



Context             (SEQ ID NO:6963):
TTTTGATCCCATCTCTTAATATTTCCTGTTGACTTCTGTTCATTCCTATTGCAAGGAACATTATTGCTGCCTTTGATAAGGCCATTATCATTTTTCTCTC
R
TATCTTCCTAATATGCATTTTTTTAACCAGTCTTCCTGCCTCCAGTCTTGCCTCCTCCAATCGATCCTTGATGCTGCCAAAGTGGTATTTGTGAAATGCA
Celera SNP ID:            hCV8884660
SNP Position Transcript:  242
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,1|G,25)   total(A,4|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1091, 23, (S,TCA)   (S,TCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1091, 23, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:6964):
ATGGTTTAAATGTACTATAACCCTTTCCCAAATAAGAGCTGCTATTATGAGGCATTAATGTACAGACCGTTTCATATGTATACTTGGTTGCTTAGGAACA
M
AGATAATTCCAGTTCCAGAATATATGAATTGCAGAATTAGTAACTTCTGTTAAAGATAATTGGAGGTTAAGAGAATTAGTCAGGGAAGCTGAAAAAGGAA
Celera SNP ID:            hCV27504626
SNP Position Transcript:  957
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None   



Context             (SEQ ID NO:6965):
CCATAACTCTAAACAGCAATCTGCAGTCATGTCCTTTTGATCCCATCTCTTAATATTTCCTGTTGACTTCTGTTCATTCCTATTGCAAGGAACATTATTG
Y
TGCCTTTGATAAGGCCATTATCATTTTTCTCTCGTATCTTCCTAATATGCATTTTTTTAACCAGTCTTCCTGCCTCCAGTCTTGCCTCCTCCAATCGATC
Celera SNP ID:            hCV8884661
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,26)   caucasian(C,13|T,15)   total(C,23|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1091, 12, (A,GCT)   (V,GTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1091, 12, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:6966):
CATTATTGCTGCCTTTGATAAGGCCATTATCATTTTTCTCTCGTATCTTCCTAATATGCATTTTTTTAACCAGTCTTCCTGCCTCCAGTCTTGCCTCCTC
M
AATCGATCCTTGATGCTGCCAAAGTGGTATTTGTGAAATGCAGTTTAGCATGCTGCTTCAGCTTTGTAATTGTTTCTCCTAATGGTCAAACCCAAACTCC
Celera SNP ID:            hCV25759850
SNP Position Transcript:  300
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,29)   caucasian(A,6|C,24)   total(A,13|C,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1091, 43, (K,AAA)   (Q,CAA)   



Context             (SEQ ID NO:6967):
GTCACCCCTTTCACCACTGTGTCCTTTTACACACTTTGTACAAGTTACTTCTAACAGTGATTTGCTTACATGTTTGTCCTCCCCACATCTAGCCCAGTGA
Y
TGGTTCAAAAAAGGCACTAAAAAAATGGATAAAATTAAATATATTACTCTTAATGATTAGTGTAATATAAATATTTACACCCCATATCTAAGTTCTGGCT
Celera SNP ID:            hCV8884655
SNP Position Transcript:  633
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1091, None   



Gene Number:                 149
Celera Gene:                 hCG2042533 - 209000073607702
Celera Transcript:           hCT2347764 - 209000073607703
Public Transcript Accession: 
Celera Protein:              hCP1910811 - 232000171425231
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY6P(2375662..2376474)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:395):
GCAGAGGACGGCCCGGAGTCTCGTAGCGCACCGCCCTGGTCCCACACCCCCCGCAGCCCTAGGAGGATCGGTGTGCTGAGCTTGTGGCCAGGAGCTCCCC
GAGCCACTTTCGCGCGAGCAGCAGAAAACCTGAGCCGCGGCCCGGCGAGTGTCGGCGGCGCTCTGGGGAGGAGAGGCTGGGAAGGGGCTGCGAGAGATGC
TRCTTAAGAACGTGAGGCTGAGAGGCGGACTTGGTCAGATCTGCCTGCGTGACAAGCTCAGGACAGGACGCTTCTGCCCTTGCATTACTGTTGTAAAAGT
TTCCACCCAGTCCCTGGTCGCACTGCGTTCCCATCCCGGCAGATGTGAACTCAAAAACTTCCTCCGCTG

Protein Sequence    (SEQ ID NO:1092):
AAARRVSAALWGGEAGKGLREMLLKNVRLRGGLGQICLRDKLRTGRFCPCITVVKVSTQSLVALRSHPGRCELKNFLRX


SNP Information

Context             (SEQ ID NO:6968):
AGCCACTTTCGCGCGAGCAGCAGAAAACCTGAGCCGCGGCCCGGCGAGTGTCGGCGGCGCTCTGGGGAGGAGAGGCTGGGAAGGGGCTGCGAGAGATGCT
R
CTTAAGAACGTGAGGCTGAGAGGCGGACTTGGTCAGATCTGCCTGCGTGACAAGCTCAGGACAGGACGCTTCTGCCCTTGCATTACTGTTGTAAAAGTTT
Celera SNP ID:            hCV1271372
SNP Position Transcript:  202
SNP Source:               Applera
Population(Allele,Count): african american(A,10)   caucasian(A,8|G,2)   total(A,18|G,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1092, 23, (L,CTA)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,7)   caucasian(A,20|G,16)   total(A,43|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1092, 23, (L,CTA)   (L,CTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,7)   total(G,1|A,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1092, 23, (L,CTA)   (L,CTG)      



Gene Number:                 150
Celera Gene:                 hCG2044043 - 30000063665119
Celera Transcript:           hCT2284037 - 30000063665118
Public Transcript Accession: NM_003950
Celera Protein:              hCP1896267 - 197000069449531
Public Protein Accession:    NP_003941
Gene Symbol:                 F2RL3
Protein Name:                coagulation factor II (thrombin) receptor-like 3;PAR4
Celera Genomic Axis:         GA_x5YUV32W1A1(8117602..8121191)
Chromosome:                  Chr19
OMIM number:                 192320
OMIM Information:            VASOACTIVE INTESTINAL PEPTIDE;VIP


Transcript Sequence (SEQ ID NO:396):
CTCCCACGGGCTGGCTGGCAAGYGGCCCTGGTGGGTCTGYGGGGGCAGGGGCAGCCTTCCTGGTTTATCTCYACCGGCGCGATCTGCTCGTCCGCCTCGG
CTCCAGAAGCTGGGGCTCAGGGTCCRGCGAGGCAGGAAGCCTGAGGCCACAGCCCAGAGCAGCCTGAGTGCAGTCATGTGGGGGCGACTGCTCCTGTGGC
CCCTGGTGCTGGGGTTCAGCCTGTCTGGCGGCACCCAGACCCCCAGCGTCTACGACGAGAGCGGGAGCACCGGAGGTGGTGATGACAGCACGCCCTCAAT
CCTGCCTGCCCCCCGCGGCTACCCAGGCCAAGTCTGTGCCAATGACAGTGACACCCTGGAGCTCCCGGACAGCTCACGGGCACTGCTTCTGGGCTGGGTG
CCCACCAGGCTGGTGCCCGCCCTCTATGGGCTGGTCCTGGTGGTGGGGCTGCCGGCCAATGGGCTGGCGCTGTGGGTGCTGGCCACGCAGGCACCTCGGC
TGCCCTCCACCATGCTGCTGATGAACCTCGCGRCTGCTGACCTCCTGCTGGCCCTGGCGCTGCCCCCGCGGATCGCCTACCACCTGCGTGGCCAGCGCTG
GCCCTTCGGGGAGGCCGCCTGCCGCCTGGCCACGGCCGCACTCTATGGTCACATGTATGGCTCAGTGCTGCTGCTGGCCGCCGTCAGCCTGGATCGCTAC
CTGGCCCTGGTGCACCCGCTGCGGGCCCGCGCCCTGCGTGGCCGGCGCCTGGCCCTTGGACTCTGCATGGCTGCTTGGCTCATGGCGGCCGCCCTGGCAC
TGCCCCTGACACTGCAGCRGCAGACCTTCCGGCTGGCGCGCTCCGATCGCGTGCTCTGCCATGACGCGCTGCCCCTGGACGCACAGGCCTCCCACTGGCA
ACCGGCCTTCACCTGCCTGGCGCTGTTGGGCTGTTTCCTGCCCCTKCTGGCCATGCTGCTGTGCTACGGGGCCACCCTGCACACGCTGGCGGCCAGCGGC
CGGCGCTACGGCCACGCGCTGAGGCTGACCGCAGTGGTGCTGGCCTCCGCCGTGGCCTTCKTCGTGCCCAGCAACCTGCTGCTGCTGCTGCATTACTCGG
ACCYGAGCCCCAGCGCCTGGGGCAACCTCTATGGTGCCTAYGTGCCCAGCCTGGCGCTGAGCACCCTCAACAGCTGCGTGGATCCCTTCATCTACTACTA
CGTGTCGGCCGAGTTCAGGGACAAGGTGCGGGCAGGGCTCTTCCAACGGTCGCCRGGGGACACCGTGGCCTCCAAGGCCTCTGCGGAAGGGGGCAGCCGG
GGCATGGGCACCCACTCCTCTTTGCTCCAGTGACACAAAGTGGGGAAGGCTGTACTGGGTCGAACAGGGTCCCTTCCCCCACTTCACGTCCTTCCTGGGA
CCTCAGAATGTGACCTTATTTGGAAATAGGGTTGTTACAACTGTCACTAGCRGAGGTCACTTTGGAGAAGGGTGGGCCTTACATCCAGTGTGGGTGGTGT
CCTCATAAGATAAGGAGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCCCAGCACTTTAAGAGGCCAAGGCGGATGGATCACTTGAGCCCAGGAGTTCAA
CACCAGCCTGAGCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCTTGGTGGCTGGCGCCTGTAATCCCAGCTACTCAGGAGAC
TGAGGCAGAAGGATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGGACTCCAGCCTGCGTGACAGAGAGCCTGTCTCTAAA
TTAATTAATTAATTAATTTAATTCAATTTTAAAAAGACGAAAAGTGACGGCCAGGTGCAGTGGCTCACGCCTATAATCTCAGCACTCTGGGAGGCCAAGA
TGGAGGATTGCTTGAAGCCAGGAGTTTGGGACCAGCCTGGGCAACATAGGGGGATCCCATCTCTACACACAAAAAAATTTTTTAATGAACCAGGCATTGT
GGCATGCGCCTATAGTCCCAGCCACTCAAGAGGCACAGGCGGGAGGATCACTTGAGCCTGGGAGGTTGTGGTTGCAGTGAGCTATGATTGTACCACTGCA
CTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCAAAAATAAACAAACTAAAATTAAAAAAAGAAGACGAGAGATAGTGGGTGTGGTGGCTCACACCTGC
AATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCATCTGAGGCCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAATCCTATCTCTACCAAAAAT
ACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTACTGGGGAGGTGCCCACCCAGCTACTGGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGGAGG
CGGAGGTTGCGGTCAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGACTCTGTCTCCAAAAAAAAGAGAAGAGGAGAGGACACAGAGAC
ACACAGAGAAGAAAGCCATGTGGCGGCAGAGGCAGAGATGGGAGTGATGCGGACGGACACAAACTAAGGGATGCCACGATGCCAAGCACAGCCAACAGCC
ACCAGCAGCCAGGAGACAGGCCTGGGACGGGCTCTCCCTCACAGCCTCCAGAGGGAACCAGCCCTGCCACCACCTTGACCCTGGACTTCTGGCCTGCAGA
ACTGTGAGACAATAAACTCTCATTGTTTTAAGCTGCCTGGCATGTGGCACTTTGTCAGGGCAGCCCAGGAATCTGAAACAGGATCAAACTCTGCTTCCTG
GGCCCTGCCAGCATCTCTGGCTCGGCTTTCTGGGCTGGATGCAGCCCACGACGCACTGGTGTCTGAGATGGGGCTGGAGCTGGGGCTGGGGCTGCAKTCC
CTGGAGACTCACTGCAAGTTCCTGCCCAGGAGGCTGAGGGCACCCCATCCTCAGTGCCCAATGCTGTGGCCCCACCAGGCCCAGAGCCTGGTTGGCCATT
CTCATGCCCACCAGCTTCTGGCTTTGGGATGTCTCTTGAGCAACCAGAATAGCACCCCCAACTCTGCTCCCCAAAACCCATCACTAGCACGGCTCAGCCT
CCTGCTATCCCCTGACTGCTGGGGACCCTCGCCTTCCCTCCTCTCACCTGCAGGCTGATCCTTCTTTTCACTTTCTGTCAATGTCACCAGGGATAAGGTG
GGACAATGGGGGGTGGGGGTGGACAGTGTGTGCTGGGGGGTTCGGGTGCTGCAGACCTGGAACTCCCTTCTGCCAGGATGTYGGCAGCCGGTTGTAAGCC
TTGCAYGGGACAGAC

Protein Sequence    (SEQ ID NO:1093):
MWGRLLLWPLVLGFSLSGGTQTPSVYDESGSTGGGDDSTPSILPAPRGYPGQVCANDSDTLELPDSSRALLLGWVPTRLVPALYGLVLVVGLPANGLALW
VLATQAPRLPSTMLLMNLAAADLLLALALPPRIAYHLRGQRWPFGEAACRLATAALYGHMYGSVLLLAAVSLDRYLALVHPLRARALRGRRLALGLCMAA
WLMAAALALPLTLQRQTFRLARSDRVLCHDALPLDAQASHWQPAFTCLALLGCFLPLLAMLLCYGATLHTLAASGRRYGHALRLTAVVLASAVAFFVPSN
LLLLLHYSDPSPSAWGNLYGAYVPSLALSTLNSCVDPFIYYYVSAEFRDKVRAGLFQRSPGDTVASKASAEGGSRGMGTHSSLLQ


SNP Information

Context             (SEQ ID NO:6969):
CGCTGAGCACCCTCAACAGCTGCGTGGATCCCTTCATCTACTACTACGTGTCGGCCGAGTTCAGGGACAAGGTGCGGGCAGGGCTCTTCCAACGGTCGCC
R
GGGGACACCGTGGCCTCCAAGGCCTCTGCGGAAGGGGGCAGCCGGGGCATGGGCACCCACTCCTCTTTGCTCCAGTGACACAAAGTGGGGAAGGCTGTAC
Celera SNP ID:            hCV15955316
SNP Position Transcript:  1255
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,41)   total(G,41|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1093, 360, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:6970):
CGCTACGGCCACGCGCTGAGGCTGACCGCAGTGGTGCTGGCCTCCGCCGTGGCCTTCTTCGTGCCCAGCAACCTGCTGCTGCTGCTGCATTACTCGGACC
Y
GAGCCCCAGCGCCTGGGGCAACCTCTATGGTGCCTACGTGCCCAGCCTGGCGCTGAGCACCCTCAACAGCTGCGTGGATCCCTTCATCTACTACTACGTG
Celera SNP ID:            hCV15955388
SNP Position Transcript:  1104
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,3)   total(C,67|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 310, (P,CCG)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,9|T,1)   total(C,39|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 310, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,1|C,45)   total(C,45|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 310, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:6971):
CTCCCACGGGCTGGCTGGCAAGCGGCCCTGGTGGGTCTGCGGGGGCAGGGGCAGCCTTCCTGGTTTATCTC
Y
ACCGGCGCGATCTGCTCGTCCGCCTCGGCTCCAGAAGCTGGGGCTCAGGGTCCGGCGAGGCAGGAAGCCTGAGGCCACAGCCCAGAGCAGCCTGAGTGCA
Celera SNP ID:            hCV7493799
SNP Position Transcript:  72
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,10|T,12)   total(C,34|T,14)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,17|T,19)   total(C,48|T,22)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               dbSNP
Population(Allele,Count): PCT-TFRICTN-PTNEL(T,8|C,40)   PCT-EUR(ETN-PTNEL(C,21|T,25)   total(C,61|T,33)   no_pop(C,-|T,-)   no_pop(T,-|C,-)   JBIC-allele(C,424|T,1073)   total(C,424|T,1073)   SC_12_A(C,8|T,12)   SC_12_C(T,9|C,15)   SC_12_AA(T,4|C,19)   total(C,42|T,25) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6972):
GTGCTACGGGGCCACCCTGCACACGCTGGCGGCCAGCGGCCGGCGCTACGGCCACGCGCTGAGGCTGACCGCAGTGGTGCTGGCCTCCGCCGTGGCCTTC
K
TCGTGCCCAGCAACCTGCTGCTGCTGCTGCATTACTCGGACCCGAGCCCCAGCGCCTGGGGCAACCTCTATGGTGCCTACGTGCCCAGCCTGGCGCTGAG
Celera SNP ID:            hCV15955318
SNP Position Transcript:  1061
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,29)   caucasian(T,32)   total(G,3|T,61)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 296, (V,GTC)   (F,TTC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,25)   caucasian(T,4)   total(G,3|T,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 296, (V,GTC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   PGA-AFRICAN-PANEL(G,5|T,43)   total(G,5|T,43) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 296, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:6973):
TGTCACCAGGGATAAGGTGGGACAATGGGGGGTGGGGGTGGACAGTGTGTGCTGGGGGGTTCGGGTGCTGCAGACCTGGAACTCCCTTCTGCCAGGATGT
Y
GGCAGCCGGTTGTAAGCCTTGCACGGGACAGAC
Celera SNP ID:            hCV15955343
SNP Position Transcript:  3282
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|T,47)   total(C,1|T,47) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6974):
CCTGGGCCCTGCCAGCATCTCTGGCTCGGCTTTCTGGGCTGGATGCAGCCCACGACGCACTGGTGTCTGAGATGGGGCTGGAGCTGGGGCTGGGGCTGCA
K
TCCCTGGAGACTCACTGCAAGTTCCTGCCCAGGAGGCTGAGGGCACCCCATCCTCAGTGCCCAATGCTGTGGCCCCACCAGGCCCAGAGCCTGGTTGGCC
Celera SNP ID:            hCV15955344
SNP Position Transcript:  2897
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(G,1|T,47)   total(G,1|T,47) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6975):
CTCCCACGGGCTGGCTGGCAAG
Y
GGCCCTGGTGGGTCTGCGGGGGCAGGGGCAGCCTTCCTGGTTTATCTCCACCGGCGCGATCTGCTCGTCCGCCTCGGCTCCAGAAGCTGGGGCTCAGGGT
Celera SNP ID:            hCV27839834
SNP Position Transcript:  23
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,36)   total(C,69|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None



Context             (SEQ ID NO:6976):
TGGCCTCCGCCGTGGCCTTCTTCGTGCCCAGCAACCTGCTGCTGCTGCTGCATTACTCGGACCCGAGCCCCAGCGCCTGGGGCAACCTCTATGGTGCCTA
Y
GTGCCCAGCCTGGCGCTGAGCACCCTCAACAGCTGCGTGGATCCCTTCATCTACTACTACGTGTCGGCCGAGTTCAGGGACAAGGTGCGGGCAGGGCTCT
Celera SNP ID:            hCV22271507
SNP Position Transcript:  1141
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,5)   caucasian(C,8)   total(C,31|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1093, 322, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,2)   caucasian(C,34)   total(C,54|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1093, 322, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|C,42)   total(C,42|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1093, 322, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:6977):
GGTCCTGGTGGTGGGGCTGCCGGCCAATGGGCTGGCGCTGTGGGTGCTGGCCACGCAGGCACCTCGGCTGCCCTCCACCATGCTGCTGATGAACCTCGCG
R
CTGCTGACCTCCTGCTGGCCCTGGCGCTGCCCCCGCGGATCGCCTACCACCTGCGTGGCCAGCGCTGGCCCTTCGGGGAGGCCGCCTGCCGCCTGGCCAC
Celera SNP ID:            hCV7493801
SNP Position Transcript:  533
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,9|G,25)   total(A,33|G,35)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 120, (T,ACT)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,8)   caucasian(A,5|G,25)   total(A,27|G,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 120, (T,ACT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(A,7|G,10)   SC_12_C(A,10|G,13)   SC_12_AA(G,5|A,12)   total(G,28|A,29)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 120, (T,ACT)   (A,GCT)      120, (A,GCT)   (T,ACT)      



Context             (SEQ ID NO:6978):
ATGGGGGGTGGGGGTGGACAGTGTGTGCTGGGGGGTTCGGGTGCTGCAGACCTGGAACTCCCTTCTGCCAGGATGTTGGCAGCCGGTTGTAAGCCTTGCA
Y
GGGACAGAC
Celera SNP ID:            hCV3065943
SNP Position Transcript:  3306
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;PGA-AFRICAN-PANEL(T,5|C,43)   PGA-EUR(EAN-PANEL(T,15|C,31)   total(C,74|T,20)   JBIC-allele(T,96|C,1401)   total(C,1401|T,96) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6979):
CCCTGGTGGGTCTGCGGGGGCAGGGGCAGCCTTCCTGGTTTATCTCCACCGGCGCGATCTGCTCGTCCGCCTCGGCTCCAGAAGCTGGGGCTCAGGGTCC
R
GCGAGGCAGGAAGCCTGAGGCCACAGCCCAGAGCAGCCTGAGTGCAGTCATGTGGGGGCGACTGCTCCTGTGGCCCCTGGTGCTGGGGTTCAGCCTGTCT
Celera SNP ID:            hCV15955321
SNP Position Transcript:  126
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,22)   caucasian(G,36)   total(A,6|G,58)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,28)   caucasian(G,36)   total(A,6|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,6|G,42)   total(G,42|A,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6980):
CTCCCACGGGCTGGCTGGCAAGCGGCCCTGGTGGGTCTG
Y
GGGGGCAGGGGCAGCCTTCCTGGTTTATCTCCACCGGCGCGATCTGCTCGTCCGCCTCGGCTCCAGAAGCTGGGGCTCAGGGTCCGGCGAGGCAGGAAGC
Celera SNP ID:            hCV15955322
SNP Position Transcript:  40
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,34)   total(C,61|T,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,36)   total(C,68|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,2|C,46)   total(C,46|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6981):
ATCGCGTGCTCTGCCATGACGCGCTGCCCCTGGACGCACAGGCCTCCCACTGGCAACCGGCCTTCACCTGCCTGGCGCTGTTGGGCTGTTTCCTGCCCCT
K
CTGGCCATGCTGCTGTGCTACGGGGCCACCCTGCACACGCTGGCGGCCAGCGGCCGGCGCTACGGCCACGCGCTGAGGCTGACCGCAGTGGTGCTGGCCT
Celera SNP ID:            hCV15853473
SNP Position Transcript:  946
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1093, 257, (L,CTG)   (L,CTT)      



Context             (SEQ ID NO:6982):
GTACTGGGTCGAACAGGGTCCCTTCCCCCACTTCACGTCCTTCCTGGGACCTCAGAATGTGACCTTATTTGGAAATAGGGTTGTTACAACTGTCACTAGC
R
GAGGTCACTTTGGAGAAGGGTGGGCCTTACATCCAGTGTGGGTGGTGTCCTCATAAGATAAGGAGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCCCAG
Celera SNP ID:            hCV15955315
SNP Position Transcript:  1452
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,40)   PGA-EUR(EAN-PANEL(A,15|G,31)   total(G,71|A,19) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1093, None   



Context             (SEQ ID NO:6983):
CTGCGGGCCCGCGCCCTGCGTGGCCGGCGCCTGGCCCTTGGACTCTGCATGGCTGCTTGGCTCATGGCGGCCGCCCTGGCACTGCCCCTGACACTGCAGC
R
GCAGACCTTCCGGCTGGCGCGCTCCGATCGCGTGCTCTGCCATGACGCGCTGCCCCTGGACGCACAGGCCTCCCACTGGCAACCGGCCTTCACCTGCCTG
Celera SNP ID:            hCV15853474
SNP Position Transcript:  819
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 215, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1093, 215, (Q,CAG)   (R,CGG)      



Gene Number:                 151
Celera Gene:                 hCG20655 - 30000053560375
Celera Transcript:           hCT2296499 - 30000053560362
Public Transcript Accession: NM_006669
Celera Protein:              hCP1874894 - 30000053560328
Public Protein Accession:    NP_006660
Gene Symbol:                 LILRB1
Protein Name:                leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1;CD85;CD85J;ILT2;LIR-1;LIR1;MIR-7;MIR7
Celera Genomic Axis:         GA_x5YUV32VY4T(4476368..4496744)
Chromosome:                  Chr19
OMIM number:                 604811
OMIM Information:            LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1;LILRB1


Transcript Sequence (SEQ ID NO:397):
AGAGAAAAGAGGAGAGGAGAGGAGGAACAGAAAAGAAAAGAAAAGAAAAAGTGGGAAACAAATAATCTAAGAATGAGGAGAAAGCAAGAAGAGTGACCCC
CTTGTGGGCACTCCATTGGTTTTATGGCGCCTCTACTTTCTGGAGTTTGTGTAAAACAAAAATATTATGGTCTTTGTGCACATTTACATCAAGCTCAGCC
TGGGCGGCACAGCCAGATGCGAGATGCGTCTCTGCTGATCTGAGTCTGCCTGCAGCATGGACCTGGGTCTTCCCTGAAGCATCTCCAGGGCTGGAGGGAC
GACTGCCATGCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGT
CTGGGCCCCMGGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCA
GGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACWGCACYCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGG
CCAGTTCCCCATCCCATCCATCACCTGGGAACAYRCAGGGCGGTATCGCTGTTACTATGGTAGCSACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTG
GAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAAYCCTCCAGTGTGACTCAC
AGGTGGCATTTGATGGCTTCAKTCTGTGTAAGGAAGGAGAAGAWGMACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCAT
CTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGGTGCTATGCTTATGACTCGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTC
CTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATSGTGGCCCCTGAGGAGACCCTGACYCTGCAGTGTGGCT
CTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGSTGGGCTCTCCCAGGCCAA
CTTCRCCCTGGGCCCTGTGAGCCGCTCCTAYGGGGGCCAGTACAGRTGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGYCCCCAGYGACCCCCTG
GACATCCTGATSGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGT
CACAGRGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAAYGTACCAATCTCAAAAATACCAGGCTGA
ATTCCCCATGGGTCCTGTGACCTCAGCCCATGCRGGGACCTACAGGTGCTACGGCTCACWSAGCTCCAAMCCCTACCTGCTGACTCACCCCAGTGACCCC
CTGGAGCTCGTGGTCTCAGGACCSTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGCAGGCCCTGAGGACCAGCCCCTCACCCCCA
CCGGGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCRTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTT
CCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACA
GACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGAGA
TGGACACTCGGCAGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTTC
CCCACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTG
ACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCA
CTCTGGCCATCCACTAGCCCAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCA
CCCAGCCTGGATCTACCCCAGGAGACTCTGGGAACTTTTAGGGGTCACTCAATTCTGCAGTATAAATAACTAATGTCTCTACAATTTTGAAATAAAGCAA
CAGACTTCTCAATAATCAATGAAGTAGCTGAGAAAACTAAGTCAGAAAGTGCATTAAACTGAATCACAATGTAAATATTACACATCAAGCGATGAAACTG
GAAAACTACAAGCCACGAATGAATGAATTAGGAAAGAAAAAAAGTAGGAAATGAATGATCTTGGCTTTCCTATAAGAAATTTAGGGCAGGGCACGGTGGC
TCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGTTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTC
CTAAAAATACAAAAATTAGCTGGATGTGGTGGCAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGG
TTTCAGTGAGCCAAGATCGCACCACTGCTCTCCAGCCTGGCGACAGAGGGAGACTCCATCTCAAATT

Protein Sequence    (SEQ ID NO:1094):
MHRGLIHPQSRAVGGDAMTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRLYREKKTALWITRIPQELVKKGQF
PIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVVTGAYIKPTLSAQPSPVVNSGGNVILQCDSQVAFDGFSLCKEGEDEHPQCLNSQPHARGSSRAIFS
VGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKKPSLSVQPGPIVAPEETLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFT
LGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKEGAADDPWRLRSTYQSQKYQAEFP
MGPVTSAHAGTYRCYGSQSSKPYLLTHPSDPLELVVSGPSGGPSSPTTGPTSTSAGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVILLLLLLLLLFLI
LRHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAADAQEENLYAAVKHTQPEDGVEMDTRQSPHDEDPQAVTYAEVKHSRPRREMASPPSPL
SGEFLDTKDRQAEEDRQMDTEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH


SNP Information

Context             (SEQ ID NO:6984):
CTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAAC
W
GCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACT
Celera SNP ID:            hCV25974342
SNP Position Transcript:  556
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,3)   caucasian(A,36)   total(A,55|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 83, (T,ACA)   (T,ACT)   



Context             (SEQ ID NO:6985):
GATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGTAGC
S
ACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAA
Celera SNP ID:            hCV25974326
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,12)   caucasian(G,36)   total(C,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 120, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:6986):
GCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGTCTGGGCCCC
M
GGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGG
Celera SNP ID:            hCV26235202
SNP Position Transcript:  410
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,5)      total(A,5|C,3) ;no_pop(A,-|C,-)   JBIC-allele(A,574|C,919)   total(C,919|A,574)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 35, (R,AGG)   (R,CGG)      35, (R,CGG)   (R,AGG)      



Context             (SEQ ID NO:6987):
GGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAA
Y
GTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCC
Celera SNP ID:            hCV25943871
SNP Position Transcript:  1473
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,31|T,3)   total(C,58|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 389, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:6988):
CCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAG
Y
GACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGC
Celera SNP ID:            hCV9491133
SNP Position Transcript:  1291
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,9|T,25)   total(C,18|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 328, (S,AGC)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 328, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:6989):
GCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGAT
S
GCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGA
Celera SNP ID:            hCV25943759
SNP Position Transcript:  1312
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,34)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 335, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:6990):
TGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTC
R
CCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACAT
Celera SNP ID:            hCV25943687
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,32)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 300, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:6991):
GGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGG
Y
CCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTG
Celera SNP ID:            hCV25943697
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,33|T,1)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 326, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:6992):
TACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCA
K
TCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGC
Celera SNP ID:            hCV9491153
SNP Position Transcript:  822
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 172, (S,AGT)   (I,ATT)      



Context             (SEQ ID NO:6993):
GAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAA
Y
CCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGT
Celera SNP ID:            hCV9491145
SNP Position Transcript:  783
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 159, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:6994):
CCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAG
R
GATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCC
Celera SNP ID:            hCV25943893
SNP Position Transcript:  1406
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,20)   caucasian(G,34)   total(A,8|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 367, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:6995):
AGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGC
R
GGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCC
Celera SNP ID:            hCV25943997
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(A,3|G,31)   total(A,4|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 409, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:6996):
CAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACC
S
TCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGCAGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTC
Celera SNP ID:            hCV15815955
SNP Position Transcript:  1624
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 439, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:6997):
ATCTGCAGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCC
R
TCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCA
Celera SNP ID:            hCV8703601
SNP Position Transcript:  1766
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 487, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:6998):
CCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACAGCAC
Y
CTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGT
Celera SNP ID:            hCV3137472
SNP Position Transcript:  561
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,6|T,28)   total(C,18|T,34)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 85, (P,CCC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 85, (P,CCC)   (L,CTC)      85, (L,CTC)   (P,CCC)      



Context             (SEQ ID NO:6999):
GTCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACA
Y
GCAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCA
Celera SNP ID:            hCV3137473
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,19)   caucasian(C,3|T,33)   total(C,4|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 109, (H,CAC)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 109, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7000):
TCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACAT
R
CAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCAC
Celera SNP ID:            hCV3137474
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,3|G,33)   total(A,4|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 110, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 110, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7001):
CTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGG
S
TGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCG
Celera SNP ID:            hCV25943640
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,34)   total(C,65|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 292, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:7002):
ATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTA
Y
GGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACA
Celera SNP ID:            hCV25943722
SNP Position Transcript:  1231
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 308, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7003):
CGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTAT
S
GTGGCCCCTGAGGAGACCCTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCG
Celera SNP ID:            hCV25943528
SNP Position Transcript:  1063
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,34)   total(C,63|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 252, (I,ATC)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,5)   caucasian(C,32)   total(C,61|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 252, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7004):
CAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATG
M
ACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGG
Celera SNP ID:            hCV26235198
SNP Position Transcript:  846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 180, (E,GAA)   (A,GCA)      



Context             (SEQ ID NO:7005):
CCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGA
W
GAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACA
Celera SNP ID:            hCV26235199
SNP Position Transcript:  844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 179, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:7006):
GTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACA
S
AGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCT
Celera SNP ID:            hCV25943911
SNP Position Transcript:  1561
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(C,3|G,31)   total(C,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 418, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:7007):
TACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATCGTGGCCCCTGAGGAGACCCTGAC
Y
CTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGC
Celera SNP ID:            hCV25943581
SNP Position Transcript:  1087
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,15)   caucasian(C,1|T,19)   total(C,12|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 260, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,21)   caucasian(C,2|T,32)   total(C,13|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 260, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:7008):
CAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAA
M
CCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTG
Celera SNP ID:            hCV25943932
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,2)   caucasian(A,31|C,3)   total(A,57|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 421, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7009):
CGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCAC
W
GAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACC
Celera SNP ID:            hCV25943909
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,31|T,3)   total(A,57|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1094, 418, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:7010):
GTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAG
R
TGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGG
Celera SNP ID:            hCV25943764
SNP Position Transcript:  1246
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,11)   caucasian(A,34)   total(A,55|G,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1094, 313, (R,AGA)   (R,AGG)   



Gene Number:                 151
Celera Gene:                 hCG20655 - 30000053560375
Celera Transcript:           hCT1956245 - 30000053560382
Public Transcript Accession: NM_006669
Celera Protein:              hCP1764353 - 30000053560332
Public Protein Accession:    NP_006660
Gene Symbol:                 LILRB1
Protein Name:                leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1;CD85;CD85J;ILT2;LIR-1;LIR1;MIR-7;MIR7
Celera Genomic Axis:         GA_x5YUV32VY4T(4476368..4496744)
Chromosome:                  Chr19
OMIM number:                 604811
OMIM Information:            LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1;LILRB1


Transcript Sequence (SEQ ID NO:398):
AGAGAAAAGAGGAGAGGAGAGGAGGAACAGAAAAGAAAAGAAAAGAAAAAGTGGGAAACAAATAATCTAAGAATGAGGAGAAAGCAAGAAGAGTGACCCC
CTTGTGGGCACTCCATTGGTTTTATGGCGCCTCTACTTTCTGGAGTTTGTGTAAAACAAAAATATTATGGTCTTTGTGCACATTTACATCAAGCTCAGCC
TGGGCGGCACAGCCAGATGCGAGATGCGTCTCTGCTGATCTGAGTCTGCCTGCAGCATGGACCTGGGTCTTCCCTGAAGCATCTCCAGGGCTGGAGGGAC
GACTGCCATGCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGT
CTGGGCCCCMGGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCA
GGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACWGCACYCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGG
CCAGTTCCCCATCCCATCCATCACCTGGGAACAYRCAGGGCGGTATCGCTGTTACTATGGTAGCSACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTG
GAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAAYCCTCCAGTGTGACTCAC
AGGTGGCATTTGATGGCTTCAKTCTGTGTAAGGAAGGAGAAGAWGMACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCAT
CTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGGTGCTATGCTTATGACTCGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTC
CTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATSGTGGCCCCTGAGGAGACCCTGACYCTGCAGTGTGGCT
CTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGSTGGGCTCTCCCAGGCCAA
CTTCRCCCTGGGCCCTGTGAGCCGCTCCTAYGGGGGCCAGTACAGRTGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGYCCCCAGYGACCCCCTG
GACATCCTGATSGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGT
CACAGRGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAAYGTACCAATCTCAAAAATACCAGGCTGA
ATTCCCCATGGGTCCTGTGACCTCAGCCCATGCRGGGACCTACAGGTGCTACGGCTCACWSAGCTCCAAMCCCTACCTGCTGACTCACCCCAGTGACCCC
CTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGCAGGCCCTGAGGACCAGCCCCTCACCCCCA
CCGGGTCGGATCCCCAGRGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTT
CCTRATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACA
GACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCRGAYGCCCAGGARGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGAGA
TGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTTCCCC
ACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCKGCTGCYTCTGAARCCCCCCAGGATGTGACC
TACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGYGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTC
TGGCCATCCACTAGCCCAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCACCC
AGCCTGGATCTACCCCAGGAGACTCTGGGAACTTTTAGGGGTCACTCAATTCTGCAGTATAAATAACTAATGTCTCTACAATTTTGAAATAAAGCAACAG
ACTTCTCAATAATCAATGAAGTAGCTGAGAAAACTAAGTCAGAAAGTGCATTAAACTGAATCACAATGTAAATATTACACATCAAGCGATGAAACTGGAA
AACTACAAGCCACGAATGAATGAATTAGGAAAGAAAAAAAGTAGGAAATGAATGATCTTGGCTTTCCTATAAGAAATTTAGGGCAGGGCACGGTGGCTCA
CGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGTTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTCCTA
AAAATACAAAAATTAGCTGGATGTGGTGGCAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTYGAACCAGGGAGTCAGAGGTTT
CAGTGAGCCAAGATCGCACCACTGCTCTCCAGCCTGGCGACAGAGGGAGACTCCATCTCAAATT

Protein Sequence    (SEQ ID NO:1095):
MHRGLIHPQSRAVGGDAMTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRLYREKKTALWITRIPQELVKKGQF
PIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVVTGAYIKPTLSAQPSPVVNSGGNVILQCDSQVAFDGFSLCKEGEDEHPQCLNSQPHARGSSRAIFS
VGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKKPSLSVQPGPIVAPEETLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFT
LGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKEGAADDPWRLRSTYQSQKYQAEFP
MGPVTSAHAGTYRCYGSQSSKPYLLTHPSDPLELVVSGPSGGPSSPTTGPTSTSAGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVILLLLLLLLLFLI
LRHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAADAQEENLYAAVKHTQPEDGVEMDTRSPHDEDPQAVTYAEVKHSRPRREMASPPSPLS
GEFLDTKDRQAEEDRQMDTEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH


SNP Information

Context             (SEQ ID NO:7011):
GCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGTCTGGGCCCC
M
GGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGG
Celera SNP ID:            hCV26235202
SNP Position Transcript:  410
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,5)      total(A,5|C,3) ;no_pop(A,-|C,-)   JBIC-allele(A,574|C,919)   total(C,919|A,574)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 35, (R,AGG)   (R,CGG)      35, (R,CGG)   (R,AGG)      



Context             (SEQ ID NO:7012):
GCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGAT
S
GCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGA
Celera SNP ID:            hCV25943759
SNP Position Transcript:  1312
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,34)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 335, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7013):
TGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTC
R
CCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACAT
Celera SNP ID:            hCV25943687
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,32)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 300, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:7014):
GAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAA
Y
CCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGT
Celera SNP ID:            hCV9491145
SNP Position Transcript:  783
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 159, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7015):
GAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAG
Y
GCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGA
Celera SNP ID:            hCV29042320
SNP Position Transcript:  2265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1095, None   



Context             (SEQ ID NO:7016):
AGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGC
R
GGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCC
Celera SNP ID:            hCV25943997
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(A,3|G,31)   total(A,4|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 409, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7017):
AGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGCAGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAG
R
GTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCG
Celera SNP ID:            hCV8703601
SNP Position Transcript:  1718
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 471, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:7018):
GGACATCGACCCAGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGC
R
GATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGAGATGGACACTCGGAGCCCACACGATGAAGACCCCCAGG
Celera SNP ID:            hCV25943450
SNP Position Transcript:  1936
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,34)   total(A,2|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 543, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7019):
CGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTAT
S
GTGGCCCCTGAGGAGACCCTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCG
Celera SNP ID:            hCV25943528
SNP Position Transcript:  1063
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,34)   total(C,63|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 252, (I,ATC)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,5)   caucasian(C,32)   total(C,61|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 252, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7020):
ATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTA
Y
GGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACA
Celera SNP ID:            hCV25943722
SNP Position Transcript:  1231
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 308, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7021):
CAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATG
M
ACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGG
Celera SNP ID:            hCV26235198
SNP Position Transcript:  846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 180, (E,GAA)   (A,GCA)      



Context             (SEQ ID NO:7022):
CCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGA
W
GAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACA
Celera SNP ID:            hCV26235199
SNP Position Transcript:  844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 179, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:7023):
TACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATCGTGGCCCCTGAGGAGACCCTGAC
Y
CTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGC
Celera SNP ID:            hCV25943581
SNP Position Transcript:  1087
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,15)   caucasian(C,1|T,19)   total(C,12|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 260, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,21)   caucasian(C,2|T,32)   total(C,13|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 260, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:7024):
CGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCAC
W
GAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACC
Celera SNP ID:            hCV25943909
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,31|T,3)   total(A,57|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 418, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:7025):
GTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAG
R
TGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGG
Celera SNP ID:            hCV25943764
SNP Position Transcript:  1246
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,11)   caucasian(A,34)   total(A,55|G,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 313, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:7026):
CTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAAC
W
GCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACT
Celera SNP ID:            hCV25974342
SNP Position Transcript:  556
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,3)   caucasian(A,36)   total(A,55|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 83, (T,ACA)   (T,ACT)   



Context             (SEQ ID NO:7027):
GATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGTAGC
S
ACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAA
Celera SNP ID:            hCV25974326
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,12)   caucasian(G,36)   total(C,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 120, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7028):
GGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAA
Y
GTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCC
Celera SNP ID:            hCV25943871
SNP Position Transcript:  1473
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,31|T,3)   total(C,58|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 389, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:7029):
CCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAG
Y
GACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGC
Celera SNP ID:            hCV9491133
SNP Position Transcript:  1291
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,9|T,25)   total(C,18|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 328, (S,AGC)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 328, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:7030):
GGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGG
Y
CCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTG
Celera SNP ID:            hCV25943697
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,33|T,1)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 326, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:7031):
TACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCA
K
TCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGC
Celera SNP ID:            hCV9491153
SNP Position Transcript:  822
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 172, (S,AGT)   (I,ATT)      



Context             (SEQ ID NO:7032):
CCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAG
R
GATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCC
Celera SNP ID:            hCV25943893
SNP Position Transcript:  1406
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,20)   caucasian(G,34)   total(A,8|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 367, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7033):
TGGTGAAACCCTGTCTCTCCTAAAAATACAAAAATTAGCTGGATGTGGTGGCAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCT
Y
GAACCAGGGAGTCAGAGGTTTCAGTGAGCCAAGATCGCACCACTGCTCTCCAGCCTGGCGACAGAGGGAGACTCCATCTCAAATT
Celera SNP ID:            hCV26235180
SNP Position Transcript:  2879
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1095, None   



Context             (SEQ ID NO:7034):
GGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCT
R
ATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACA
Celera SNP ID:            hCV7797714
SNP Position Transcript:  1804
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(G,18)   total(A,6|G,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 499, (K,AAA)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 499, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:7035):
GGCCTCTCCTCCTTCCCCACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAA
R
CCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCC
Celera SNP ID:            hCV26235181
SNP Position Transcript:  2183
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 626, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7036):
GAGAAATGGCCTCTCCTCCTTCCCCACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGC
Y
TCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAG
Celera SNP ID:            hCV26235182
SNP Position Transcript:  2176
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 623, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:7037):
CTAGGAGAGAAATGGCCTCTCCTCCTTCCCCACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGC
K
GCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCT
Celera SNP ID:            hCV26235183
SNP Position Transcript:  2170
SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(G,11|T,11)   total(G,11|T,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 621, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:7038):
CCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACAGCAC
Y
CTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGT
Celera SNP ID:            hCV3137472
SNP Position Transcript:  561
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,6|T,28)   total(C,18|T,34)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 85, (P,CCC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 85, (P,CCC)   (L,CTC)      85, (L,CTC)   (P,CCC)      



Context             (SEQ ID NO:7039):
AGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGA
R
GAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGAGATGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATG
Celera SNP ID:            hCV25944083
SNP Position Transcript:  1948
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(A,10|G,18)   total(A,13|G,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 547, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7040):
GTCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACA
Y
GCAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCA
Celera SNP ID:            hCV3137473
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,19)   caucasian(C,3|T,33)   total(C,4|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 109, (H,CAC)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 109, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7041):
TCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACAT
R
CAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCAC
Celera SNP ID:            hCV3137474
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,3|G,33)   total(A,4|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 110, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 110, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7042):
CTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGG
S
TGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCG
Celera SNP ID:            hCV25943640
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,34)   total(C,65|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 292, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:7043):
GTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACA
S
AGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCT
Celera SNP ID:            hCV25943911
SNP Position Transcript:  1561
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(C,3|G,31)   total(C,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 418, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:7044):
CAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAA
M
CCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTG
Celera SNP ID:            hCV25943932
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,2)   caucasian(A,31|C,3)   total(A,57|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1095, 421, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7045):
CATCGACCCAGAGAAAGGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGA
Y
GCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGAGATGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAG
Celera SNP ID:            hCV25974244
SNP Position Transcript:  1939
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(C,10|T,22)   total(C,12|T,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1095, 544, (D,GAC)   (D,GAT)   



Gene Number:                 151
Celera Gene:                 hCG20655 - 30000053560375
Celera Transcript:           hCT2296500 - 30000053560385
Public Transcript Accession: NM_006669
Celera Protein:              hCP1874893 - 197000069408157
Public Protein Accession:    NP_006660
Gene Symbol:                 LILRB1
Protein Name:                leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1;CD85;CD85J;ILT2;LIR-1;LIR1;MIR-7;MIR7
Celera Genomic Axis:         GA_x5YUV32VY4T(4476368..4496744)
Chromosome:                  Chr19
OMIM number:                 604811
OMIM Information:            LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1;LILRB1


Transcript Sequence (SEQ ID NO:399):
AGAGAAAAGAGGAGAGGAGAGGAGGAACAGAAAAGAAAAGAAAAGAAAAAGTGGGAAACAAATAATCTAAGAATGAGGAGAAAGCAAGAAGAGTGACCCC
CTTGTGGGCACTCCATTGGTTTTATGGCGCCTCTACTTTCTGGAGTTTGTGTAAAACAAAAATATTATGGTCTTTGTGCACATTTACATCAAGCTCAGCC
TGGGCGGCACAGCCAGATGCGAGATGCGTCTCTGCTGATCTGAGTCTGCCTGCAGCATGGACCTGGGTCTTCCCTGAAGCATCTCCAGGGCTGGAGGGAC
GACTGCCATGCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGT
CTGGGCCCCMGGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCA
GGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACWGCACYCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGG
CCAGTTCCCCATCCCATCCATCACCTGGGAACAYRCAGGGCGGTATCGCTGTTACTATGGTAGCSACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTG
GAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAAYCCTCCAGTGTGACTCAC
AGGTGGCATTTGATGGCTTCAKTCTGTGTAAGGAAGGAGAAGAWGMACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCAT
CTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGGTGCTATGCTTATGACTCGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTC
CTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATSGTGGCCCCTGAGGAGACCCTGACYCTGCAGTGTGGCT
CTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGSTGGGCTCTCCCAGGCCAA
CTTCRCCCTGGGCCCTGTGAGCCGCTCCTAYGGGGGCCAGTACAGRTGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGYCCCCAGYGACCCCCTG
GACATCCTGATSGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGT
CACAGRGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAAYGTACCAATCTCAAAAATACCAGGCTGA
ATTCCCCATGGGTCCTGTGACCTCAGCCCATGCRGGGACCTACAGGTGCTACGGCTCACWSAGCTCCAAMCCCTACCTGCTGACTCACCCCAGTGACCCC
CTGGAGCTCGTGGTCTCAGGACCSTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCG
GGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCRTCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCT
CATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAARGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGAC
AGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGARGAYGGGGTGGARATGG
ACACTCGGCAGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTTCCCC
ACTGTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACC
TACGCCCAGCTGCACAGCTTKACCCTYAGACGGRAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTC
TGGCCATCCACTAGCYCAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCACCC
AGCCTGGATCTACCCCAGGAGACTCTGGGAACTTTTAGGGGTCACTCAATTCTGCAGTATAAATAACTAATGTCTCTACAATTTTGAAATAAAGCAACAG
ACTTCTCAATAATCAATGAAGTAGCTGAGAAAACTAAGTCAGAAAGTGCATTAAACTGAATCACAATGTAAATATTACACATCAAGCGATGAAACTGGAA
AACTACAAGCCACGAATGAATGAATTAGGAAAGAAAAAAAGTAGGAAATGAATGATCTTGGCTTTCCTATAAGAAATTTAGGGCAGGGCACGGTGGCTCA
CGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGTTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTCCTA
AAAATACAAAAATTAGCTGGATGTGGTGGCAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTT
CAGTGAGCCAAGATCGCACCACTGCTCTCYAGCCTGGCGACAGAGGGAGACTCCATCTCAAATT

Protein Sequence    (SEQ ID NO:1096):
MHRGLIHPQSRAVGGDAMTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRLYREKKTALWITRIPQELVKKGQF
PIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVVTGAYIKPTLSAQPSPVVNSGGNVILQCDSQVAFDGFSLCKEGEDEHPQCLNSQPHARGSSRAIFS
VGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKKPSLSVQPGPIVAPEETLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFT
LGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKEGAADDPWRLRSTYQSQKYQAEFP
MGPVTSAHAGTYRCYGSQSSKPYLLTHPSDPLELVVSGPSGGPSSPTTGPTSTSGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVILLLLLLLLLFLIL
RHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAADAQEENLYAAVKHTQPEDGVEMDTRQSPHDEDPQAVTYAEVKHSRPRREMASPPSPLS
GEFLDTKDRQAEEDRQMDTEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH


SNP Information

Context             (SEQ ID NO:7046):
GCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGTCTGGGCCCC
M
GGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGG
Celera SNP ID:            hCV26235202
SNP Position Transcript:  410
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,5)      total(A,5|C,3) ;no_pop(A,-|C,-)   JBIC-allele(A,574|C,919)   total(C,919|A,574)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 35, (R,AGG)   (R,CGG)      35, (R,CGG)   (R,AGG)      



Context             (SEQ ID NO:7047):
GCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGAT
S
GCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGA
Celera SNP ID:            hCV25943759
SNP Position Transcript:  1312
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,34)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 335, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7048):
TGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTC
R
CCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACAT
Celera SNP ID:            hCV25943687
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,32)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 300, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:7049):
GAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAA
Y
CCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGT
Celera SNP ID:            hCV9491145
SNP Position Transcript:  783
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 159, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7050):
AGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGC
Y
CAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCACCCAGCCTGGATCTACCCC
Celera SNP ID:            hCV29042320
SNP Position Transcript:  2316
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1096, None   



Context             (SEQ ID NO:7051):
AGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGC
R
GGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCC
Celera SNP ID:            hCV25943997
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(A,3|G,31)   total(A,4|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 409, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7052):
ATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTC
R
TCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCAACA
Celera SNP ID:            hCV8703601
SNP Position Transcript:  1766
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 487, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:7053):
CAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACC
S
TCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTCTGG
Celera SNP ID:            hCV15815955
SNP Position Transcript:  1624
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 439, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:7054):
GGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGA
R
GATGGGGTGGAGATGGACACTCGGCAGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGG
Celera SNP ID:            hCV25943450
SNP Position Transcript:  1984
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,34)   total(A,2|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 559, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7055):
CGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTAT
S
GTGGCCCCTGAGGAGACCCTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCG
Celera SNP ID:            hCV25943528
SNP Position Transcript:  1063
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,34)   total(C,63|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 252, (I,ATC)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,5)   caucasian(C,32)   total(C,61|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 252, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7056):
ATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTA
Y
GGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACA
Celera SNP ID:            hCV25943722
SNP Position Transcript:  1231
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 308, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7057):
CAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATG
M
ACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGG
Celera SNP ID:            hCV26235198
SNP Position Transcript:  846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 180, (E,GAA)   (A,GCA)      



Context             (SEQ ID NO:7058):
CCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGA
W
GAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACA
Celera SNP ID:            hCV26235199
SNP Position Transcript:  844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 179, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:7059):
TACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATCGTGGCCCCTGAGGAGACCCTGAC
Y
CTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGC
Celera SNP ID:            hCV25943581
SNP Position Transcript:  1087
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,15)   caucasian(C,1|T,19)   total(C,12|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 260, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,21)   caucasian(C,2|T,32)   total(C,13|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 260, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:7060):
CGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCAC
W
GAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACC
Celera SNP ID:            hCV25943909
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,31|T,3)   total(A,57|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 418, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:7061):
GTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAG
R
TGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGG
Celera SNP ID:            hCV25943764
SNP Position Transcript:  1246
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,11)   caucasian(A,34)   total(A,55|G,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 313, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:7062):
GATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGTAGC
S
ACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAA
Celera SNP ID:            hCV25974326
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,12)   caucasian(G,36)   total(C,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 120, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7063):
CTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAAC
W
GCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACT
Celera SNP ID:            hCV25974342
SNP Position Transcript:  556
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,3)   caucasian(A,36)   total(A,55|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 83, (T,ACA)   (T,ACT)   



Context             (SEQ ID NO:7064):
GGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAA
Y
GTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCC
Celera SNP ID:            hCV25943871
SNP Position Transcript:  1473
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,31|T,3)   total(C,58|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 389, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:7065):
CCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAG
Y
GACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGC
Celera SNP ID:            hCV9491133
SNP Position Transcript:  1291
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,9|T,25)   total(C,18|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 328, (S,AGC)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 328, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:7066):
GGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGG
Y
CCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTG
Celera SNP ID:            hCV25943697
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,33|T,1)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 326, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:7067):
TACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCA
K
TCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGC
Celera SNP ID:            hCV9491153
SNP Position Transcript:  822
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 172, (S,AGT)   (I,ATT)      



Context             (SEQ ID NO:7068):
CCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAG
R
GATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCC
Celera SNP ID:            hCV25943893
SNP Position Transcript:  1406
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,20)   caucasian(G,34)   total(A,8|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 367, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7069):
CAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTTCAGTGAGCCAAGATCGCACCACTGCTCTC
Y
AGCCTGGCGACAGAGGGAGACTCCATCTCAAATT
Celera SNP ID:            hCV26235180
SNP Position Transcript:  2930
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1096, None   



Context             (SEQ ID NO:7070):
TCTTGGTGGCCGTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAA
R
GCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACC
Celera SNP ID:            hCV7797714
SNP Position Transcript:  1852
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(G,18)   total(A,6|G,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 515, (K,AAA)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 515, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:7071):
ACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGG
R
AGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGGGGGGACGCAGACC
Celera SNP ID:            hCV26235181
SNP Position Transcript:  2234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 643, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7072):
AGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCT
Y
AGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGGGGGGAC
Celera SNP ID:            hCV26235182
SNP Position Transcript:  2227
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 640, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:7073):
ACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTT
K
ACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGG
Celera SNP ID:            hCV26235183
SNP Position Transcript:  2221
SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(G,11|T,11)   total(G,11|T,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 638, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:7074):
CCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACAGCAC
Y
CTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGT
Celera SNP ID:            hCV3137472
SNP Position Transcript:  561
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,6|T,28)   total(C,18|T,34)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 85, (P,CCC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 85, (P,CCC)   (L,CTC)      85, (L,CTC)   (P,CCC)      



Context             (SEQ ID NO:7075):
CAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGA
R
ATGGACACTCGGCAGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTT
Celera SNP ID:            hCV25944083
SNP Position Transcript:  1996
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(A,10|G,18)   total(A,13|G,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 563, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7076):
GTCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACA
Y
GCAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCA
Celera SNP ID:            hCV3137473
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,19)   caucasian(C,3|T,33)   total(C,4|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 109, (H,CAC)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 109, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7077):
TCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACAT
R
CAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCAC
Celera SNP ID:            hCV3137474
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,3|G,33)   total(A,4|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 110, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 110, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7078):
CTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGG
S
TGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCG
Celera SNP ID:            hCV25943640
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,34)   total(C,65|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 292, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:7079):
GTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACA
S
AGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCT
Celera SNP ID:            hCV25943911
SNP Position Transcript:  1561
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(C,3|G,31)   total(C,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 418, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:7080):
CAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAA
M
CCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTG
Celera SNP ID:            hCV25943932
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,2)   caucasian(A,31|C,3)   total(A,57|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1096, 421, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7081):
CAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGA
Y
GGGGTGGAGATGGACACTCGGCAGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCT
Celera SNP ID:            hCV25974244
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(C,10|T,22)   total(C,12|T,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1096, 560, (D,GAC)   (D,GAT)   



Gene Number:                 151
Celera Gene:                 hCG20655 - 30000053560375
Celera Transcript:           hCT11734 - 30000053560377
Public Transcript Accession: NM_006669
Celera Protein:              hCP38299 - 197000069408155
Public Protein Accession:    NP_006660
Gene Symbol:                 LILRB1
Protein Name:                leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1;CD85;CD85J;ILT2;LIR-1;LIR1;MIR-7;MIR7
Celera Genomic Axis:         GA_x5YUV32VY4T(4476368..4496744)
Chromosome:                  Chr19
OMIM number:                 604811
OMIM Information:            LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1;LILRB1


Transcript Sequence (SEQ ID NO:400):
AGAGAAAAGAGGAGAGGAGAGGAGGAACAGAAAAGAAAAGAAAAGAAAAAGTGGGAAACAAATAATCTAAGAATGAGGAGAAAGCAAGAAGAGTGACCCC
CTTGTGGGCACTCCATTGGTTTTATGGCGCCTCTACTTTCTGGAGTTTGTGTAAAACAAAAATATTATGGTCTTTGTGCACATTTACATCAAGCTCAGCC
TGGGCGGCACAGCCAGATGCGAGATGCGTCTCTGCTGATCTGAGTCTGCCTGCAGCATGGACCTGGGTCTTCCCTGAAGCATCTCCAGGGCTGGAGGGAC
GACTGCCATGCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGT
CTGGGCCCCMGGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCA
GGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACWGCACYCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGG
CCAGTTCCCCATCCCATCCATCACCTGGGAACAYRCAGGGCGGTATCGCTGTTACTATGGTAGCSACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTG
GAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAAYCCTCCAGTGTGACTCAC
AGGTGGCATTTGATGGCTTCAKTCTGTGTAAGGAAGGAGAAGAWGMACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCAT
CTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGGTGCTATGCTTATGACTCGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTC
CTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATSGTGGCCCCTGAGGAGACCCTGACYCTGCAGTGTGGCT
CTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGSTGGGCTCTCCCAGGCCAA
CTTCRCCCTGGGCCCTGTGAGCCGCTCCTAYGGGGGCCAGTACAGRTGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGYCCCCAGYGACCCCCTG
GACATCCTGATSGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGT
CACAGRGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAAYGTACCAATCTCAAAAATACCAGGCTGA
ATTCCCCATGGGTCCTGTGACCTCAGCCCATGCRGGGACCTACAGGTGCTACGGCTCACWSAGCTCCAAMCCCTACCTGCTGACTCACCCCAGTGACCCC
CTGGAGCTCGTGGTCTCAGGACCSTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCG
GGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCRTCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCT
CATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAARGCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGAC
AGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGARGAYGGGGTGGARATGG
ACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTTCCCCACT
GTCTGGGGAATTCCTGGACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTAC
GCCCAGCTGCACAGCTTKACCCTYAGACGGRAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGG
CCATCCACTAGCYCAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCACCCAGC
CTGGATCTACCCCAGGAGACTCTGGGAACTTTTAGGGGTCACTCAATTCTGCAGTATAAATAACTAATGTCTCTACAATTTTGAAATAAAGCAACAGACT
TCTCAATAATCAATGAAGTAGCTGAGAAAACTAAGTCAGAAAGTGCATTAAACTGAATCACAATGTAAATATTACACATCAAGCGATGAAACTGGAAAAC
TACAAGCCACGAATGAATGAATTAGGAAAGAAAAAAAGTAGGAAATGAATGATCTTGGCTTTCCTATAAGAAATTTAGGGCAGGGCACGGTGGCTCACGC
CTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGTTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTCCTAAAA
ATACAAAAATTAGCTGGATGTGGTGGCAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTTCAG
TGAGCCAAGATCGCACCACTGCTCTCYAGCCTGGCGACAGAGGGAGACTCCATCTCAAATT

Protein Sequence    (SEQ ID NO:1097):
MHRGLIHPQSRAVGGDAMTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRLYREKKTALWITRIPQELVKKGQF
PIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVVTGAYIKPTLSAQPSPVVNSGGNVILQCDSQVAFDGFSLCKEGEDEHPQCLNSQPHARGSSRAIFS
VGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKKPSLSVQPGPIVAPEETLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFT
LGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKEGAADDPWRLRSTYQSQKYQAEFP
MGPVTSAHAGTYRCYGSQSSKPYLLTHPSDPLELVVSGPSGGPSSPTTGPTSTSGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVILLLLLLLLLFLIL
RHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAADAQEENLYAAVKHTQPEDGVEMDTRSPHDEDPQAVTYAEVKHSRPRREMASPPSPLSG
EFLDTKDRQAEEDRQMDTEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH


SNP Information

Context             (SEQ ID NO:7082):
GCACCGAGGGCTCATCCATCCACAGAGCAGGGCAGTGGGAGGAGACGCCATGACCCCCATCCTCACGGTCCTGATCTGTCTCGGGCTGAGTCTGGGCCCC
M
GGACCCACGTGCAGGCAGGGCACCTCCCCAAGCCCACCCTCTGGGCTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGG
Celera SNP ID:            hCV26235202
SNP Position Transcript:  410
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,5)      total(A,5|C,3) ;no_pop(A,-|C,-)   JBIC-allele(A,574|C,919)   total(C,919|A,574)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 35, (R,AGG)   (R,CGG)      35, (R,CGG)   (R,AGG)      



Context             (SEQ ID NO:7083):
GCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGAT
S
GCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGA
Celera SNP ID:            hCV25943759
SNP Position Transcript:  1312
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,34)   total(C,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 335, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7084):
TGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTC
R
CCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACAT
Celera SNP ID:            hCV25943687
SNP Position Transcript:  1205
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,32)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 300, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:7085):
GAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAA
Y
CCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGT
Celera SNP ID:            hCV9491145
SNP Position Transcript:  783
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 159, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7086):
AGCTTGACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGC
Y
CAGGGGGGGACGCAGACCCCACACTCCATGGAGTCTGGAATGCATGGGAGCTGCCCCCCCAGTGGACACCATTGGACCCCACCCAGCCTGGATCTACCCC
Celera SNP ID:            hCV29042320
SNP Position Transcript:  2313
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1097, None   



Context             (SEQ ID NO:7087):
AGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGC
R
GGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCC
Celera SNP ID:            hCV25943997
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(A,3|G,31)   total(A,4|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 409, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7088):
ATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTC
R
TCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAAGGCTGATTTCCAACA
Celera SNP ID:            hCV8703601
SNP Position Transcript:  1766
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 487, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:7089):
CAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACC
S
TCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTGGCCCTGAGGACCAGCCCCTCACCCCCACCGGGTCGGATCCCCAGAGTGGTCTGG
Celera SNP ID:            hCV15815955
SNP Position Transcript:  1624
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 439, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:7090):
GGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGA
R
GATGGGGTGGAGATGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCT
Celera SNP ID:            hCV25943450
SNP Position Transcript:  1984
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,34)   total(A,2|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 559, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7091):
CGAACTCTCCCTATGAGTGGTCTCTACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTAT
S
GTGGCCCCTGAGGAGACCCTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCG
Celera SNP ID:            hCV25943528
SNP Position Transcript:  1063
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,3)   caucasian(C,34)   total(C,63|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 252, (I,ATC)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,5)   caucasian(C,32)   total(C,61|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 252, (I,ATC)   (M,ATG)   



Context             (SEQ ID NO:7092):
ATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTA
Y
GGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACA
Celera SNP ID:            hCV25943722
SNP Position Transcript:  1231
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 308, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7093):
CAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGATG
M
ACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACAGG
Celera SNP ID:            hCV26235198
SNP Position Transcript:  846
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 180, (E,GAA)   (A,GCA)      



Context             (SEQ ID NO:7094):
CCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCAGTCTGTGTAAGGAAGGAGAAGA
W
GAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGCCCGAGTCGCAGGTGGTGGTACA
Celera SNP ID:            hCV26235199
SNP Position Transcript:  844
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 179, (E,GAA)   (D,GAT)      



Context             (SEQ ID NO:7095):
TACCCAGTGATCTCCTGGAGCTCCTGGTCCTAGGTGTTTCTAAGAAGCCATCACTCTCAGTGCAGCCAGGTCCTATCGTGGCCCCTGAGGAGACCCTGAC
Y
CTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGC
Celera SNP ID:            hCV25943581
SNP Position Transcript:  1087
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,15)   caucasian(C,1|T,19)   total(C,12|T,34)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 260, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,21)   caucasian(C,2|T,32)   total(C,13|T,53)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 260, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:7096):
CGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCAC
W
GAGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACC
Celera SNP ID:            hCV25943909
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,31|T,3)   total(A,57|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 418, (Q,CAG)   (L,CTG)   



Context             (SEQ ID NO:7097):
GTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGGCTGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAG
R
TGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGG
Celera SNP ID:            hCV25943764
SNP Position Transcript:  1246
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,11)   caucasian(A,34)   total(A,55|G,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 313, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:7098):
GATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGTAGC
S
ACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAA
Celera SNP ID:            hCV25974326
SNP Position Transcript:  665
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,12)   caucasian(G,36)   total(C,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 120, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7099):
CTGAACCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAAC
W
GCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACT
Celera SNP ID:            hCV25974342
SNP Position Transcript:  556
SNP Source:               Applera
Population(Allele,Count): african american(A,19|T,3)   caucasian(A,36)   total(A,55|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 83, (T,ACA)   (T,ACT)   



Context             (SEQ ID NO:7100):
GGAGAGAACGTGACCCTGCTGTGTCAGTCACAGGGATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAA
Y
GTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAAACCC
Celera SNP ID:            hCV25943871
SNP Position Transcript:  1473
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,31|T,3)   total(C,58|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 389, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:7101):
CCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGGCCCCCAG
Y
GACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGC
Celera SNP ID:            hCV9491133
SNP Position Transcript:  1291
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,9|T,25)   total(C,18|T,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 328, (S,AGC)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 328, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:7102):
GGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCGG
Y
CCCCAGTGACCCCCTGGACATCCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTG
Celera SNP ID:            hCV25943697
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,33|T,1)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 326, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:7103):
TACATCAAACCCACCCTCTCAGCCCAGCCCAGCCCCGTGGTGAACTCAGGAGGGAATGTAATCCTCCAGTGTGACTCACAGGTGGCATTTGATGGCTTCA
K
TCTGTGTAAGGAAGGAGAAGATGAACACCCACAATGCCTGAACTCCCAGCCCCATGCCCGTGGGTCGTCCCGCGCCATCTTCTCCGTGGGCCCCGTGAGC
Celera SNP ID:            hCV9491153
SNP Position Transcript:  822
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 172, (S,AGT)   (I,ATT)      



Context             (SEQ ID NO:7104):
CCTGATCGCAGGACAGTTCTATGACAGAGTCTCCCTCTCGGTGCAGCCGGGCCCCACGGTGGCCTCAGGAGAGAACGTGACCCTGCTGTGTCAGTCACAG
R
GATGGATGCAAACTTTCCTTCTGACCAAGGAGGGGGCAGCTGATGACCCATGGCGTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCC
Celera SNP ID:            hCV25943893
SNP Position Transcript:  1406
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,20)   caucasian(G,34)   total(A,8|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 367, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7105):
CAGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTTCAGTGAGCCAAGATCGCACCACTGCTCTC
Y
AGCCTGGCGACAGAGGGAGACTCCATCTCAAATT
Celera SNP ID:            hCV26235180
SNP Position Transcript:  2927
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1097, None   



Context             (SEQ ID NO:7106):
TCTTGGTGGCCGTCATCCTACTGCTCCTCCTCCTCCTCCTCCTCTTCCTCATCCTCCGACATCGACGTCAGGGCAAACACTGGACATCGACCCAGAGAAA
R
GCTGATTTCCAACATCCTGCAGGGGCTGTGGGGCCAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACC
Celera SNP ID:            hCV7797714
SNP Position Transcript:  1852
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(G,18)   total(A,6|G,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 515, (K,AAA)   (K,AAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 515, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:7107):
ACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCTCAGACGG
R
AGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGGGGGGACGCAGACC
Celera SNP ID:            hCV26235181
SNP Position Transcript:  2231
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 642, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7108):
AGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTTGACCCT
Y
AGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGGGGGGAC
Celera SNP ID:            hCV26235182
SNP Position Transcript:  2224
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 639, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:7109):
ACACAAAGGACAGACAGGCGGAAGAGGACAGGCAGATGGACACTGAGGCTGCTGCATCTGAAGCCCCCCAGGATGTGACCTACGCCCAGCTGCACAGCTT
K
ACCCTCAGACGGGAGGCAACTGAGCCTCCTCCATCCCAGGAAGGGCCCTCTCCAGCTGTGCCCAGCATCTACGCCACTCTGGCCATCCACTAGCCCAGGG
Celera SNP ID:            hCV26235183
SNP Position Transcript:  2218
SNP Source:               dbSNP
Population(Allele,Count): SC_12_A(G,11|T,11)   total(G,11|T,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 637, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:7110):
CCAGGCTCTGTGATCACCCAGGGGAGTCCTGTGACCCTCAGGTGTCAGGGGGGCCAGGAGACCCAGGAGTACCGTCTATATAGAGAAAAGAAAACAGCAC
Y
CTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACATGCAGGGCGGTATCGCTGTTACTATGGT
Celera SNP ID:            hCV3137472
SNP Position Transcript:  561
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,6)   caucasian(C,6|T,28)   total(C,18|T,34)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 85, (P,CCC)   (L,CTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 85, (P,CCC)   (L,CTC)      85, (L,CTC)   (P,CCC)      



Context             (SEQ ID NO:7111):
CAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGATGGGGTGGA
R
ATGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTCCTCCTTCCC
Celera SNP ID:            hCV25944083
SNP Position Transcript:  1996
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(A,10|G,18)   total(A,13|G,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 563, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7112):
GTCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACA
Y
GCAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCA
Celera SNP ID:            hCV3137473
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,19)   caucasian(C,3|T,33)   total(C,4|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 109, (H,CAC)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 109, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7113):
TCTATATAGAGAAAAGAAAACAGCACTCTGGATTACACGGATCCCACAGGAGCTTGTGAAGAAGGGCCAGTTCCCCATCCCATCCATCACCTGGGAACAT
R
CAGGGCGGTATCGCTGTTACTATGGTAGCGACACTGCAGGCCGCTCAGAGAGCAGTGACCCCCTGGAGCTGGTGGTGACAGGAGCCTACATCAAACCCAC
Celera SNP ID:            hCV3137474
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(A,3|G,33)   total(A,4|G,52)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 110, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 110, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7114):
CTGACTCTGCAGTGTGGCTCTGATGCTGGCTACAACAGATTTGTTCTGTATAAGGACGGGGAACGTGACTTCCTTCAGCTCGCTGGCGCACAGCCCCAGG
S
TGGGCTCTCCCAGGCCAACTTCACCCTGGGCCCTGTGAGCCGCTCCTACGGGGGCCAGTACAGATGCTACGGTGCACACAACCTCTCCTCCGAGTGGTCG
Celera SNP ID:            hCV25943640
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,34)   total(C,65|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 292, (A,GCT)   (G,GGT)   



Context             (SEQ ID NO:7115):
GTCTAAGATCAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACA
S
AGCTCCAAACCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCT
Celera SNP ID:            hCV25943911
SNP Position Transcript:  1561
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(C,3|G,31)   total(C,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 418, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:7116):
CAACGTACCAATCTCAAAAATACCAGGCTGAATTCCCCATGGGTCCTGTGACCTCAGCCCATGCGGGGACCTACAGGTGCTACGGCTCACAGAGCTCCAA
M
CCCTACCTGCTGACTCACCCCAGTGACCCCCTGGAGCTCGTGGTCTCAGGACCGTCTGGGGGCCCCAGCTCCCCGACAACAGGCCCCACCTCCACATCTG
Celera SNP ID:            hCV25943932
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,2)   caucasian(A,31|C,3)   total(A,57|C,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1097, 421, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7117):
CAGAGCCCACAGACAGAGGCCTGCAGTGGAGGTCCAGCCCAGCTGCCGATGCCCAGGAAGAAAACCTCTATGCTGCCGTGAAGCACACACAGCCTGAGGA
Y
GGGGTGGAGATGGACACTCGGAGCCCACACGATGAAGACCCCCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTAGGAGAGAAATGGCCTCTC
Celera SNP ID:            hCV25974244
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(C,10|T,22)   total(C,12|T,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1097, 560, (D,GAC)   (D,GAT)   



Gene Number:                 152
Celera Gene:                 hCG20859 - 66000115840017
Celera Transcript:           hCT11941 - 66000115840018
Public Transcript Accession: NM_005598
Celera Protein:              hCP38474 - 197000069372277
Public Protein Accession:    NP_005589
Gene Symbol:                 NHLH1
Protein Name:                nescient helix loop helix 1;HEN1;NSCL;NSCL1
Celera Genomic Axis:         GA_x5YUV32VSLS(1066300..1072081)
Chromosome:                  Chr1
OMIM number:                 162360
OMIM Information:            NESCIENT HELIX LOOP HELIX 1;NHLH1


Transcript Sequence (SEQ ID NO:401):
AGGTGTGTGTGTCTGAGGGTGTGTGTGTGAGTGTGGCTGGCCCCAGTACCTGGCCAAGCCCACCACTTCCACCTGGGCCCTACACCCCCACAATGTGTAC
CCCTCTTATCTGCCCTGGAGCCTGTACAGCCATGCCACGCTACCCCTGAGAGTCTAGAAAGCTGGTCACTAACTTTGCAGACGGATGAGCCTTGAGCACC
CAGAGGAGACTGGGGCTGTCAACGCTGCCCCTTGTCCTGCCGGCTTGGATCCCCTGACAGGGTCCTTCTAGGCTTCAGACTGGCACCCTGACCATGGAAC
CCTGAAGTGGCAGTGACTTCTAGAGCTCAGTGGCAGACCCCACGACCCTTCCTCCCCCTTCCTCCCCCTCCCACCACCAGCTTTCAAGCTCCCAGAGGGA
GGGGTGGGGAGGGGATCCTGATCTCACAGGGCAGGGGGCTTCCATCATGATGCTCAACTCAGACACCATGGAGCTGGACCTGCCGCCCACCCACTCAGAG
ACTGAGTCGGGCTTCAGTGACTGTGGGGGCGGGGCGGGCCCTGATGGTGCCGGGCCTGGGGGTCCGGGAGGGGGCCAGGCCCGAGGCCCAGAGCCGGGAG
AGCCTGGCCGGAAAGACCTGCAGCATCTGAGCCGCGAGGAGCGCCGGCGCCGGCGCCGCGCCACAGCCAAGTACCGCACGGCCCACGCCACGCGAGAACG
CATCCGCGTGGAAGCCTTCAACCTGGCCTTCGCCGAGCTGCGCAAGCTGCTGCCTACGCTGCCCCCCGACAAGAAGCTCTCCAAGATTGAGATTCTGCGC
CTGGCCATCTGCTATATCTCCTACCTGAACCACGTGCTGGACGTCTGAACTCAGCCTGTCTCCCACCTCCCGGGCCTCTCTGGGGCCCCTTTCCACCGCT
CACTGCTTAGAAAGGCCGCATCCTCCCCGAGCCCTTATACCTTGGCATGGAGTCCCAAAGGCCCTGGGCACAGGCAGAGAGCCCACCGGCTGGTCATGAG
GGCCTCTTCCTTTCTCTGACCCAGGCACCTCGAGGGCTATTCTCCTGGGTTCCTTCCGGGGTTTATYGCTGAGGCCCAGCTGTGCAGAATTGTTTGCTAG
TGTGGTTGGTATGGAATCCTTGCTGGCTTTACTAAGCCAGCCACACTTGGAGTCTGCCCCCAAGCTCTCTCACTGAATGCTGCCTCTTCTACCCCTATGT
CCAAATTTTCAGCCACCACAGACCTCAGCTGTGTATCCTATCTGTTCTAGCTTCTCCTGCCCCTGGTGGGGATGGGCTGTCAGAATTGCAAGGGAGGAAG
GCTGGGGTTAGAGTGGGGAGTGGGCTTCTTCCTCCAAGATCTCAGTCTCTCAGTGCTTGGCAGAGGGGTGAGGCCCTGGGGAGGCAGGGGTTGGTGCCCT
GACTCCTGTGAGGGGAATCTCAGTAGCTGGGAATTATGGAAAAACTCTTCCTGTTTCTGTCCATCTTGTTCCTGTGGCTTAGCACATACAGACCTCAGAT
CTTACTTGGTAGTGAGTGCCTTGCCCTCTTTGAGCTATTTGGCTACTTCCCTGTCCCTCTGACTCCTACTGTCCCAATTTTCTCCCTCCCTGTGTGTCAC
TAGAGAAAAAAAAAAACAAAAACCTAGATTCCGGATTAGGGGATGACATCCCAAACAGCCCGGAGTATTTGCAGAAGGCTCAGGCAACGAGTGGGCCACA
TCTCACTTCTGCTTCCTCATCTCAGCCCACTCTGAAAATGTGCAGCACCCTCACTGGTTCCTCCCCCCAACGCAAGGAGGATGCCCAATTGTTGCCCTCT
RAAAATGCACAGTTCTCCTGGCCCTAGGACTTACTTATTACATTTTTTTCTCTTTCCTTGAGCTGCCTTTGGCAAGGGAAGAGACCCCCAACTCTGCGCC
CCTACTCCATGCTGCTGATCCCCACCTGCGCACTATAGCKCAGGGTCAGCAGTGGAATGAAGGGCCTTAGAACCTGCATAGAAGAAATGAACTCACTGCA
TTTCTGTGCTCCCTCCTCCCTCGCACCAAACTCCTAGCTCTACAAGTATATTTATTTATTTATTTATTTATTCATCTATTTATTTACTTATTTATTTATT
TAWAAATATTGCTATTTATTGCCGAGTTGTGCACTTTGGGGTAGAGTGAGGGGCTCCCAGCAGCTCTAGCTGGGTCTCTCTTGCTTCCTCCCTGCTTACG
CCTTTCCTTTTCTTGCTCCTTCTTCAACTCCTGGTGTGTGTGAGCATGCCCTTTGCTTGCCACACCATATCCTTTCCCCAGATCCACCTGTCCTGACACT
CTAGTCCTCCAGGATAGTGCTCCTCCCCCAGCTCCAGGGCTCCTGGATGTCCTTCCTCAACTCCCTCCACCCCTAGACAATCCTACCTGGTCCCATCTGC
CTCTTTTCTCTCCCCAGCCTGCCCTGTGACCCTTGCCTCTTCCTGATACTCCCAAGAGCAGGCCCCAGGGGTCTGTGTCACATATCTCTGTGTGATTCCT
TCTGGTTGCATCCCCAATTTCATACAAAAAGAAAAATAAAAGTGACCTCGTTCTAGCACCAG

Protein Sequence    (SEQ ID NO:1098):
MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQARGPEPGEPGRKDLQHLSREERRRRRRATAKYRTAHATRERIRVEAFNLAFAELRK
LLPTLPPDKKLSKIEILRLAICYISYLNHVLDV


SNP Information

Context             (SEQ ID NO:7118):
ACATTTTTTTCTCTTTCCTTGAGCTGCCTTTGGCAAGGGAAGAGACCCCCAACTCTGCGCCCCTACTCCATGCTGCTGATCCCCACCTGCGCACTATAGC
K
CAGGGTCAGCAGTGGAATGAAGGGCCTTAGAACCTGCATAGAAGAAATGAACTCACTGCATTTCTGTGCTCCCTCCTCCCTCGCACCAAACTCCTAGCTC
Celera SNP ID:            hCV1859711
SNP Position Transcript:  1940
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,3)   total(G,3|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1098, None   



Context             (SEQ ID NO:7119):
TCTCACTTCTGCTTCCTCATCTCAGCCCACTCTGAAAATGTGCAGCACCCTCACTGGTTCCTCCCCCCAACGCAAGGAGGATGCCCAATTGTTGCCCTCT
R
AAAATGCACAGTTCTCCTGGCCCTAGGACTTACTTATTACATTTTTTTCTCTTTCCTTGAGCTGCCTTTGGCAAGGGAAGAGACCCCCAACTCTGCGCCC
Celera SNP ID:            hCV1859712
SNP Position Transcript:  1801
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,3)      total(G,3|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1098, None   



Context             (SEQ ID NO:7120):
TCTGTGCTCCCTCCTCCCTCGCACCAAACTCCTAGCTCTACAAGTATATTTATTTATTTATTTATTTATTCATCTATTTATTTACTTATTTATTTATTTA
W
AAATATTGCTATTTATTGCCGAGTTGTGCACTTTGGGGTAGAGTGAGGGGCTCCCAGCAGCTCTAGCTGGGTCTCTCTTGCTTCCTCCCTGCTTACGCCT
Celera SNP ID:            hCV27064774
SNP Position Transcript:  2103
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|T,2|-,5)   total(A,2|-,5|T,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1098, None   



Context             (SEQ ID NO:7121):
GGCACAGGCAGAGAGCCCACCGGCTGGTCATGAGGGCCTCTTCCTTTCTCTGACCCAGGCACCTCGAGGGCTATTCTCCTGGGTTCCTTCCGGGGTTTAT
Y
GCTGAGGCCCAGCTGTGCAGAATTGTTTGCTAGTGTGGTTGGTATGGAATCCTTGCTGGCTTTACTAAGCCAGCCACACTTGGAGTCTGCCCCCAAGCTC
Celera SNP ID:            hCV11628259
SNP Position Transcript:  1067
SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,7)   total(C,2|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1098, None   



Gene Number:                 153
Celera Gene:                 hCG20905 - 84000313398873
Celera Transcript:           hCT11987 - 84000313398874
Public Transcript Accession: NM_000129
Celera Protein:              hCP39487 - 197000064923574
Public Protein Accession:    NP_000120
Gene Symbol:                 F13A1
Protein Name:                coagulation factor XIII, A1 polypeptide;F13A
Celera Genomic Axis:         GA_x5YUV32VT9V(5767995..5945812)
Chromosome:                  Chr6
OMIM number:                 134570
OMIM Information:            FACTOR XIII, A1 SUBUNIT;F13A1


Transcript Sequence (SEQ ID NO:402):
CTTTCCCGAGTCCGTTTGAGGAAGTCCCCGAGGCGCACAGAGCAAGCCCACGCGAGGGCACCTCTGGASGGGAGCGCCTGCAGGACCTTGTAAAGTCAAA
AATGTCAGAAACTTCCAGGACCGCCTTTGGAGGCAGAAGAGCAGTTCCACCCAATAACTCTAATGCAGCGGAAGATGACCTGCCCACAGTGGAGCTTCAG
GGCKTGGTGCCCCGGGGCRTCAACCTGCAAGAGTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACTAAMAAGGTGGACCACCACA
CTGACAAGTATGAAAACAACAAGCTGATTGTCYGCAGAGGGCAGTCTTTCTATGTGCAGATTGACYTCAGTCGTCCATATGACCCCAGAAGGGATCTCTT
CAGGGTGGAATACGTCATTGGTCGCTACCCACAGGAGAACAAGGGAACCTACATCCCAGTGCCTATAGTCTCAGAGTTACAAAGTGGAAAGTGGGGGGCC
AAGATTGTCATGAGAGAGGACAGGTCTGTGCGGCTGTCCATCCAGTCTTCCCCCAAATGTATTGTGGGGAAATTCCGCATGTATGTTGCTGTCTGGACTC
CCTATGGCGTACTTYGAACCAGTCGAAACCCAGAAACAGACACGTACATTCTCTTCAATCCTTGGTGTGAAGATGATGCTGTGTATCTGGACAATGAGAA
AGAAAGAGAAGAGTWTGTCCTGAATGACATCGGGGTAATTTTTTATGGAGAGGTCAATGACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGAT
GGCATCCTGGACACTTGCCTGTATGTGATGGACAGAGCACAAATGGACCTCTCTGGAAKAGGGAATCCCATCAAAGTCAGCCGTGTGGGGTCTGCAATGG
TGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCTRTGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAGSGTTGACATTCT
ATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTACRATGCCTTGGAATACCMGCA
AGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCYGGAAGAAGATGGGAACGTGAATTCCAAACTCACCA
AGGATTCAGTGTGGAACTACCACTGCTGGAATGAAGCATGGATGACAAGGCCTGACCTTCCTGTTGGATTTGGAGGCTGGCAAGCTGTGGACAGCACCCC
CYAGGAAAATAGCGATGGCATGTATCRGTGTGGCCCCGCCTCGGTTCAAGCCATCAAGCACRGCCATGTCTGCTTCCAATTTGATGCACCTTTTGTTTTT
GCAGAGGTCAACAGCGACCTCATTTACATTACAGCTAAGAAAGATGGCACTCATGTGGTGGAAAATGTGGATGCCACCCACATTGGGAAATTAATTGTGA
CCAAACAAATTGGAGGAGAYGGCATGATGGATATTACTGATACTTACAAATTCCAAGAAGGTCAAGAAGAAGAGAGATTGGCCCTAGAAACTGCCCTGAT
GTACRGAGCTAAAAAGCCCCTCAACACAGAAGGTGTCATGAAATCAAGGTCCAACGTTGACATGGACTTTGAAGTGGAAAATGCTGTGCTGGGAAAAGAC
TTCAAGCTCTCCATCACCTTCCGGAAVAACAGCCACAACCGTTACACCATCAYAGCTTATCTCTCAGCCAACATCACCTTCTACACCRGGGTCCYGAAGG
CAGARTTCAAGAAGGAGACGTTCGACRTGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGCWGATCCAAGCCGGCGAGTACATGGGTCAGCTGCT
GGAACAAGCGTCCCTGCACTTCTTTGTCACAGCTCGCATCAATGAGACCAGGGATGTTCTGGCCAAGCAAAAGTCCACCGTGCTAACCATCCCTGAGATC
ATCATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACARTTSAGTTTACCAATCCTTTAAAAGAAACCCYGYGAAATGTCTGGGTAC
ACCYGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAATCCGGCCCAACTCCACCGTGCAGTGGGAAGAAGTGTGCCGGCCCTGGGT
CTCTGGGCATCGGAAGCTGATAGCCAGCATGAGCAGTGACTCCCTGAGACATGTGTATGGCGAGCTGGAYGTGCAGATTCAAAGACGACCTTCCATGTGA
ATGCACAGGAAGCTGAGATGAACCCTGGCATTTGGCCTCTTGTAGTCTTGGCTAAGGAAATTCTAACGCAAAAATAGCTCTTGCTTTGRCTTAGGTGTGA
AGACCCAGACAKGACTGCAGAGGGCYCCAGAGTGGAGATCCCACATATTTCAAAAACATRCTTTTCCAAACCCAGGCTATTCGGCAAGGAAGTTAGTTTT
TAATCTCTCCACCTTCCAAARAGTGCTAAGCATTAGCTTTAATTAAGCTCTCATAGCTCATAAGAGTAACAGTCATCATTTATCATCACAAATGGCTACA
TCTCCAAATATCAGTGGGCTCTCTTACCAGGGAGATTTGCTCAATACCTGGCCTCATTTAAAACAAGACTTCAGATTCCCCACTCAGCCTTTTGGGAATA
ATAGCACATGATTTGGGCTCTAGAATTCCAGTCCCCTTTCTCRGGGTCAGGTTCTACCCTCCATGTGAGAATATTTTTCCCAGGACTAGAGCACAACATA
ATTTTTATTTTTGGCAAAGCCAGAAAAAGATCTTTCATTTTGCACCTGCAGCCAAGCAAATGCCTGCCAAATTTTAGATTTACCWTGTTAGAAGAGGTGG
CCCCATATTAACAAATTGCATTTGTGGGAAACTTAACCACCTACAAGGAGATAAGAAAGCAGGTGCAACACTCAAGTCTATTGAATAATGTAGTTTTGTG
ATGCATTTTATAGAATGTGTCACACTGTGGCCTGATCAGCAGRAGCCAATATCCCTTACTTTAACCCTTTCTGGGATGCAATACTAGGAAGTAAAGTGAA
GAATTTATCTCTTTAGTTAGTGATTATATTTCACCCATCTCTCAGGAATCATCTCCTTTGCAGAATGATGCAGGTTCAGGTCCCCTTTCAGAGATATAAT
AAGCCCAACAAGTTGAAGAAGCTGGCGGATCTAGTGACCAGATATATAGAAGGACTGCAGCCACTGATTCTCTCTTGTCCTTCACATCACCCATKTTGAG
ACCTCAGCTTGGCACTCAGGTGCTGAAGGGTAATATGGACTCAGSCTTGCAAATAGCCAGTGCTAGYTCTGACCCAACCACAGAGGATGCTGACATCATT
TGTATTATGTTCCAAGGCTACTACAGAGAAGGCTGCCTGCTATGTATTTGCAAGGCTGATTTATGGTCAGAATTTCCCTCTGATATGTCTAGGGTGTGAT
TTAGGTCAGTAGACTGTGATTCTTAGCAAAAAATGAACAGTGATAAGTATACWGGGGGCAAAATCAGAATGGAATGCTCTGGTCTATATAACCACATTTC
TAAGCCTTTGAGACTGTTCCTGAGCCTTCAGCACTAACCTATGAGGGTGAGCTGGTCCCCTCTATATATACATCATACTTAACTTTAYTAAGTAATCTCA
CAGCATTTGCCAAGTCTCCCAATATCCAATTTTAAAATGAAATGCATTTTGCTAGACAGTTAAACTGGCTTAACTTAGTATATTATTATTAATTACAATG
TAATAGAAGCTTAAAATAAAGTTAAACTGATTAT

Protein Sequence    (SEQ ID NO:1099):
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLF
RVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEK
EREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL
LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTP
QENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALM
YGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL
EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTIQFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWV
SGHRKLIASMSSDSLRHVYGELDVQIQRRPSM


SNP Information

Context             (SEQ ID NO:7122):
CCTTCCATGTGAATGCACAGGAAGCTGAGATGAACCCTGGCATTTGGCCTCTTGTAGTCTTGGCTAAGGAAATTCTAACGCAAAAATAGCTCTTGCTTTG
R
CTTAGGTGTGAAGACCCAGACAGGACTGCAGAGGGCCCCAGAGTGGAGATCCCACATATTTCAAAAACATGCTTTTCCAAACCCAGGCTATTCGGCAAGG
Celera SNP ID:            hCV15983535
SNP Position Transcript:  2389
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(G,10|A,38)   total(G,10|A,38) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7123):
GCTGAGATGAACCCTGGCATTTGGCCTCTTGTAGTCTTGGCTAAGGAAATTCTAACGCAAAAATAGCTCTTGCTTTGACTTAGGTGTGAAGACCCAGACA
K
GACTGCAGAGGGCCCCAGAGTGGAGATCCCACATATTTCAAAAACATGCTTTTCCAAACCCAGGCTATTCGGCAAGGAAGTTAGTTTTTAATCTCTCCAC
Celera SNP ID:            hCV15983536
SNP Position Transcript:  2412
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,9|G,35)   total(G,35|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7124):
GACCGCCTTTGGAGGCAGAAGAGCAGTTCCACCCAATAACTCTAATGCAGCGGAAGATGACCTGCCCACAGTGGAGCTTCAGGGCGTGGTGCCCCGGGGC
R
TCAACCTGCAAGAGTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACTAACAAGGTGGACCACCACACTGACAAGTATGAAAACAA
Celera SNP ID:            hCV15983554
SNP Position Transcript:  219
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 40, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:7125):
CAGAAGGTGTCATGAAATCAAGGTCCAACGTTGACATGGACTTTGAAGTGGAAAATGCTGTGCTGGGAAAAGACTTCAAGCTCTCCATCACCTTCCGGAA
V
AACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGACG
Celera SNP ID:            hCV27541294
SNP Position Transcript:  1727
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 542, (K,AAA)   (N,AAC)      542, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:7126):
CGAACCAGTCGAAACCCAGAAACAGACACGTACATTCTCTTCAATCCTTGGTGTGAAGATGATGCTGTGTATCTGGACAATGAGAAAGAAAGAGAAGAGT
W
TGTCCTGAATGACATCGGGGTAATTTTTTATGGAGAGGTCAATGACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGATGGCATCCTGGACACT
Celera SNP ID:            hCV15983577
SNP Position Transcript:  715
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 205, (Y,TAT)   (F,TTT)      



Context             (SEQ ID NO:7127):
AGAGGACAGGTCTGTGCGGCTGTCCATCCAGTCTTCCCCCAAATGTATTGTGGGGAAATTCCGCATGTATGTTGCTGTCTGGACTCCCTATGGCGTACTT
Y
GAACCAGTCGAAACCCAGAAACAGACACGTACATTCTCTTCAATCCTTGGTGTGAAGATGATGCTGTGTATCTGGACAATGAGAAAGAAAGAGAAGAGTA
Celera SNP ID:            hCV27536432
SNP Position Transcript:  615
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 172, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7128):
GTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACTAACAAGGTGGACCACCACACTGACAAGTATGAAAACAACAAGCTGATTGTC
Y
GCAGAGGGCAGTCTTTCTATGTGCAGATTGACTTCAGTCGTCCATATGACCCCAGAAGGGATCTCTTCAGGGTGGAATACGTCATTGGTCGCTACCCACA
Celera SNP ID:            hCV27864924
SNP Position Transcript:  333
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 78, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:7129):
AGGCTGATTTATGGTCAGAATTTCCCTCTGATATGTCTAGGGTGTGATTTAGGTCAGTAGACTGTGATTCTTAGCAAAAAATGAACAGTGATAAGTATAC
W
GGGGGCAAAATCAGAATGGAATGCTCTGGTCTATATAACCACATTTCTAAGCCTTTGAGACTGTTCCTGAGCCTTCAGCACTAACCTATGAGGGTGAGCT
Celera SNP ID:            hCV8786649
SNP Position Transcript:  3553
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7130):
TGCAGTGGGAAGAAGTGTGCCGGCCCTGGGTCTCTGGGCATCGGAAGCTGATAGCCAGCATGAGCAGTGACTCCCTGAGACATGTGTATGGCGAGCTGGA
Y
GTGCAGATTCAAAGACGACCTTCCATGTGAATGCACAGGAAGCTGAGATGAACCCTGGCATTTGGCCTCTTGTAGTCTTGGCTAAGGAAATTCTAACGCA
Celera SNP ID:            hCV11972335
SNP Position Transcript:  2270
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1099, 723, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7131):
GTCAGAAACTTCCAGGACCGCCTTTGGAGGCAGAAGAGCAGTTCCACCCAATAACTCTAATGCAGCGGAAGATGACCTGCCCACAGTGGAGCTTCAGGGC
K
TGGTGCCCCGGGGCGTCAACCTGCAAGAGTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACTAACAAGGTGGACCACCACACTGA
Celera SNP ID:            hCV1639938
SNP Position Transcript:  204
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|G,9)      total(G,9|T,1) ;Australian Caucasian(T,81|G,219)   Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|G,-)      total(G,219|T,81);WIAF-CSNP-P(1(T,3|G,105)   total(G,105|T,3)PGA-AFRICAN-PANEL(T,9|G,35)   PGA-EUR(EAN-PANEL(T,10|G,32)   total(G,67|T,19)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 35, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7132):
AACCATCCCTGAGATCATCATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACAATTCAGTTTACCAATCCTTTAAAAGAAACCCTG
Y
GAAATGTCTGGGTACACCTGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAATCCGGCCCAACTCCACCGTGCAGTGGGAAGAAGT
Celera SNP ID:            hCV27528650
SNP Position Transcript:  2085
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 662, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7133):
CTAACCATCCCTGAGATCATCATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACAATTCAGTTTACCAATCCTTTAAAAGAAACCC
Y
GCGAAATGTCTGGGTACACCTGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAATCCGGCCCAACTCCACCGTGCAGTGGGAAGAA
Celera SNP ID:            hCV27536835
SNP Position Transcript:  2083
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 661, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7134):
AATACCTGGCCTCATTTAAAACAAGACTTCAGATTCCCCACTCAGCCTTTTGGGAATAATAGCACATGATTTGGGCTCTAGAATTCCAGTCCCCTTTCTC
R
GGGTCAGGTTCTACCCTCCATGTGAGAATATTTTTCCCAGGACTAGAGCACAACATAATTTTTATTTTTGGCAAAGCCAGAAAAAGATCTTTCATTTTGC
Celera SNP ID:            hCV15983611
SNP Position Transcript:  2743
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,3|G,43)   total(G,43|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7135):
ACAAATTGGAGGAGATGGCATGATGGATATTACTGATACTTACAAATTCCAAGAAGGTCAAGAAGAAGAGAGATTGGCCCTAGAAACTGCCCTGATGTAC
R
GAGCTAAAAAGCCCCTCAACACAGAAGGTGTCATGAAATCAAGGTCCAACGTTGACATGGACTTTGAAGTGGAAAATGCTGTGCTGGGAAAAGACTTCAA
Celera SNP ID:            hCV27528566
SNP Position Transcript:  1605
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 502, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7136):
TCATTTACATTACAGCTAAGAAAGATGGCACTCATGTGGTGGAAAATGTGGATGCCACCCACATTGGGAAATTAATTGTGACCAAACAAATTGGAGGAGA
Y
GGCATGATGGATATTACTGATACTTACAAATTCCAAGAAGGTCAAGAAGAAGAGAGATTGGCCCTAGAAACTGCCCTGATGTACGGAGCTAAAAAGCCCC
Celera SNP ID:            hCV15983450
SNP Position Transcript:  1520
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1099, 473, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7137):
TATAGAAGGACTGCAGCCACTGATTCTCTCTTGTCCTTCACATCACCCATGTTGAGACCTCAGCTTGGCACTCAGGTGCTGAAGGGTAATATGGACTCAG
S
CTTGCAAATAGCCAGTGCTAGTTCTGACCCAACCACAGAGGATGCTGACATCATTTGTATTATGTTCCAAGGCTACTACAGAGAAGGCTGCCTGCTATGT
Celera SNP ID:            hCV15983612
SNP Position Transcript:  3345
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,2|C,44)   total(G,2|C,44) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7138):
AGCTCTCCATCACCTTCCGGAACAACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGA
R
TTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGCTGATCCAAGCCGGCGAGTACATGGGTCAGCTGCTGGAAC
Celera SNP ID:            hCV1860618
SNP Position Transcript:  1805
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,36|G,4)   total(A,71|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 568, (E,GAA)   (E,GAG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,7)      total(G,2|A,7) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,5|A,91)      total(G,5|A,91);WIAF-CSNP-P(1(G,11|A,97)   total(G,11|A,97)PGA-AFRICAN-PANEL(G,1|A,39)   PGA-EUR(EAN-PANEL(G,7|A,37)   total(G,8|A,76)   no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 568, (E,GAA)   (E,GAG)      568, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:7139):
AGGGCCCCAGAGTGGAGATCCCACATATTTCAAAAACATGCTTTTCCAAACCCAGGCTATTCGGCAAGGAAGTTAGTTTTTAATCTCTCCACCTTCCAAA
R
AGTGCTAAGCATTAGCTTTAATTAAGCTCTCATAGCTCATAAGAGTAACAGTCATCATTTATCATCACAAATGGCTACATCTCCAAATATCAGTGGGCTC
Celera SNP ID:            hCV15983543
SNP Position Transcript:  2521
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,10|G,38)   total(G,38|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7140):
GCTGGGAAAAGACTTCAAGCTCTCCATCACCTTCCGGAACAACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTCTACACC
R
GGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGCTGATCCAAGCCGGCGAGTACAT
Celera SNP ID:            hCV27529389
SNP Position Transcript:  1788
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 563, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7141):
GACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGATGGCATCCTGGACACTTGCCTGTATGTGATGGACAGAGCACAAATGGACCTCTCTGGAA
K
AGGGAATCCCATCAAAGTCAGCCGTGTGGGGTCTGCAATGGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCTATGCCTAT
Celera SNP ID:            hCV27536695
SNP Position Transcript:  859
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 253, (R,AGA)   (I,ATA)      



Context             (SEQ ID NO:7142):
ACTAGAGCACAACATAATTTTTATTTTTGGCAAAGCCAGAAAAAGATCTTTCATTTTGCACCTGCAGCCAAGCAAATGCCTGCCAAATTTTAGATTTACC
W
TGTTAGAAGAGGTGGCCCCATATTAACAAATTGCATTTGTGGGAAACTTAACCACCTACAAGGAGATAAGAAAGCAGGTGCAACACTCAAGTCTATTGAA
Celera SNP ID:            hCV15983544
SNP Position Transcript:  2885
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|T,47)   total(A,1|T,47) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7143):
TATAATAAGCCCAACAAGTTGAAGAAGCTGGCGGATCTAGTGACCAGATATATAGAAGGACTGCAGCCACTGATTCTCTCTTGTCCTTCACATCACCCAT
K
TTGAGACCTCAGCTTGGCACTCAGGTGCTGAAGGGTAATATGGACTCAGCCTTGCAAATAGCCAGTGCTAGTTCTGACCCAACCACAGAGGATGCTGACA
Celera SNP ID:            hCV15983545
SNP Position Transcript:  3295
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|G,44)   PGA-EUR(EAN-PANEL(T,9|G,37)   total(G,81|T,13) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7144):
TCTGGAAGAGGGAATCCCATCAAAGTCAGCCGTGTGGGGTCTGCAATGGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCT
R
TGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAGCGTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTT
Celera SNP ID:            hCV27540483
SNP Position Transcript:  952
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 284, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7145):
AAAGACTTCAAGCTCTCCATCACCTTCCGGAACAACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTCTACACCGGGGTCC
Y
GAAGGCAGAATTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGCTGATCCAAGCCGGCGAGTACATGGGTCAG
Celera SNP ID:            hCV8786720
SNP Position Transcript:  1795
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,26|T,8)   total(C,56|T,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 565, (P,CCG)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,5|C,90)      total(C,90|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 565, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7146):
ACTGGAAGCGTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTAC
R
ATGCCTTGGAATACCAGCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCTGGAAGAAGATGGGAAC
Celera SNP ID:            hCV27861950
SNP Position Transcript:  1081
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 327, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7147):
GGATTCAGTGTGGAACTACCACTGCTGGAATGAAGCATGGATGACAAGGCCTGACCTTCCTGTTGGATTTGGAGGCTGGCAAGCTGTGGACAGCACCCCC
Y
AGGAAAATAGCGATGGCATGTATCGGTGTGGCCCCGCCTCGGTTCAAGCCATCAAGCACGGCCATGTCTGCTTCCAATTTGATGCACCTTTTGTTTTTGC
Celera SNP ID:            hCV27861951
SNP Position Transcript:  1302
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 401, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7148):
CCACAGTGGAGCTTCAGGGCGTGGTGCCCCGGGGCGTCAACCTGCAAGAGTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACTAA
M
AAGGTGGACCACCACACTGACAAGTATGAAAACAACAAGCTGATTGTCCGCAGAGGGCAGTCTTTCTATGTGCAGATTGACTTCAGTCGTCCATATGACC
Celera SNP ID:            hCV27540847
SNP Position Transcript:  284
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 61, (K,AAA)   (N,AAC)      



Context             (SEQ ID NO:7149):
TGGAATGAAGCATGGATGACAAGGCCTGACCTTCCTGTTGGATTTGGAGGCTGGCAAGCTGTGGACAGCACCCCCCAGGAAAATAGCGATGGCATGTATC
R
GTGTGGCCCCGCCTCGGTTCAAGCCATCAAGCACGGCCATGTCTGCTTCCAATTTGATGCACCTTTTGTTTTTGCAGAGGTCAACAGCGACCTCATTTAC
Celera SNP ID:            hCV27861952
SNP Position Transcript:  1327
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 409, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7150):
ATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACAATTCAGTTTACCAATCCTTTAAAAGAAACCCTGCGAAATGTCTGGGTACACC
Y
GGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAATCCGGCCCAACTCCACCGTGCAGTGGGAAGAAGTGTGCCGGCCCTGGGTCTCT
Celera SNP ID:            hCV27540848
SNP Position Transcript:  2104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 668, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7151):
ACAAGGAGATAAGAAAGCAGGTGCAACACTCAAGTCTATTGAATAATGTAGTTTTGTGATGCATTTTATAGAATGTGTCACACTGTGGCCTGATCAGCAG
R
AGCCAATATCCCTTACTTTAACCCTTTCTGGGATGCAATACTAGGAAGTAAAGTGAAGAATTTATCTCTTTAGTTAGTGATTATATTTCACCCATCTCTC
Celera SNP ID:            hCV8786650
SNP Position Transcript:  3043
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(A,10|G,38)   total(G,38|A,10)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7152):
ATTCTAACGCAAAAATAGCTCTTGCTTTGACTTAGGTGTGAAGACCCAGACAGGACTGCAGAGGGCCCCAGAGTGGAGATCCCACATATTTCAAAAACAT
R
CTTTTCCAAACCCAGGCTATTCGGCAAGGAAGTTAGTTTTTAATCTCTCCACCTTCCAAAGAGTGCTAAGCATTAGCTTTAATTAAGCTCTCATAGCTCA
Celera SNP ID:            hCV8786651
SNP Position Transcript:  2460
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(A,13|G,33)   PGA-EUR(EAN-PANEL(A,8|G,32)   total(G,65|A,21) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7153):
CTTTCCCGAGTCCGTTTGAGGAAGTCCCCGAGGCGCACAGAGCAAGCCCACGCGAGGGCACCTCTGGA
S
GGGAGCGCCTGCAGGACCTTGTAAAGTCAAAAATGTCAGAAACTTCCAGGACCGCCTTTGGAGGCAGAAGAGCAGTTCCACCCAATAACTCTAATGCAGC
Celera SNP ID:            hCV15983130
SNP Position Transcript:  69
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(C,1|G,47)   total(G,47|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7154):
GGATGTTCTGGCCAAGCAAAAGTCCACCGTGCTAACCATCCCTGAGATCATCATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACA
R
TTCAGTTTACCAATCCTTTAAAAGAAACCCTGCGAAATGTCTGGGTACACCTGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAAT
Celera SNP ID:            hCV11972321
SNP Position Transcript:  2052
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,32)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 651, (I,ATT)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,91)      total(G,91|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 651, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:7155):
GCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGC
W
GATCCAAGCCGGCGAGTACATGGGTCAGCTGCTGGAACAAGCGTCCCTGCACTTCTTTGTCACAGCTCGCATCAATGAGACCAGGGATGTTCTGGCCAAG
Celera SNP ID:            hCV11972305
SNP Position Transcript:  1867
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,35)   caucasian(T,40)   total(A,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 589, (Q,CAG)   (L,CTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 589, (Q,CAG)   (L,CTG)      



Context             (SEQ ID NO:7156):
ATTCTCTCTTGTCCTTCACATCACCCATGTTGAGACCTCAGCTTGGCACTCAGGTGCTGAAGGGTAATATGGACTCAGCCTTGCAAATAGCCAGTGCTAG
Y
TCTGACCCAACCACAGAGGATGCTGACATCATTTGTATTATGTTCCAAGGCTACTACAGAGAAGGCTGCCTGCTATGTATTTGCAAGGCTGATTTATGGT
Celera SNP ID:            hCV11972342
SNP Position Transcript:  3367
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7157):
TGTTCTGGCCAAGCAAAAGTCCACCGTGCTAACCATCCCTGAGATCATCATCAAGGTCCGTGGCACTCAGGTAGTTGGTTCTGACATGACTGTGACAATT
S
AGTTTACCAATCCTTTAAAAGAAACCCTGCGAAATGTCTGGGTACACCTGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATGTTCCGTGAAATCCG
Celera SNP ID:            hCV11972326
SNP Position Transcript:  2055
SNP Source:               Applera
Population(Allele,Count): african american(C,8|G,28)   caucasian(C,7|G,29)   total(C,15|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 652, (Q,CAG)   (E,GAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 652, (Q,CAG)   (E,GAG)      



Context             (SEQ ID NO:7158):
TGTTGGATTTGGAGGCTGGCAAGCTGTGGACAGCACCCCCCAGGAAAATAGCGATGGCATGTATCGGTGTGGCCCCGCCTCGGTTCAAGCCATCAAGCAC
R
GCCATGTCTGCTTCCAATTTGATGCACCTTTTGTTTTTGCAGAGGTCAACAGCGACCTCATTTACATTACAGCTAAGAAAGATGGCACTCATGTGGTGGA
Celera SNP ID:            hCV27530998
SNP Position Transcript:  1362
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 421, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:7159):
ATAACCACATTTCTAAGCCTTTGAGACTGTTCCTGAGCCTTCAGCACTAACCTATGAGGGTGAGCTGGTCCCCTCTATATATACATCATACTTAACTTTA
Y
TAAGTAATCTCACAGCATTTGCCAAGTCTCCCAATATCCAATTTTAAAATGAAATGCATTTTGCTAGACAGTTAAACTGGCTTAACTTAGTATATTATTA
Celera SNP ID:            hCV11972343
SNP Position Transcript:  3688
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7160):
GGAGAGATGGGACACTAACAAGGTGGACCACCACACTGACAAGTATGAAAACAACAAGCTGATTGTCCGCAGAGGGCAGTCTTTCTATGTGCAGATTGAC
Y
TCAGTCGTCCATATGACCCCAGAAGGGATCTCTTCAGGGTGGAATACGTCATTGGTCGCTACCCACAGGAGAACAAGGGAACCTACATCCCAGTGCCTAT
Celera SNP ID:            hCV8786854
SNP Position Transcript:  366
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 89, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:7161):
GGTCTGCAATGGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCTATGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAG
S
GTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTACGATGCCTTG
Celera SNP ID:            hCV27540342
SNP Position Transcript:  989
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 296, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:7162):
TGGCATTTGGCCTCTTGTAGTCTTGGCTAAGGAAATTCTAACGCAAAAATAGCTCTTGCTTTGACTTAGGTGTGAAGACCCAGACAGGACTGCAGAGGGC
Y
CCAGAGTGGAGATCCCACATATTTCAAAAACATGCTTTTCCAAACCCAGGCTATTCGGCAAGGAAGTTAGTTTTTAATCTCTCCACCTTCCAAAGAGTGC
Celera SNP ID:            hCV8786659
SNP Position Transcript:  2426
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,7)      total(C,7|T,3) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   JBIC-allele(C,496|T,953)   total(C,496|T,953)   PGA-AFRICAN-PANEL(T,14|C,30)   PGA-EUR(EAN-PANEL(C,18|T,22)   total(C,48|T,36)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1099, None   



Context             (SEQ ID NO:7163):
TTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTACGATGCCTTGGAATACC
M
GCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCTGGAAGAAGATGGGAACGTGAATTCCAAACTCA
Celera SNP ID:            hCV11972274
SNP Position Transcript:  1097
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,28|C,10)   total(A,65|C,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1099, 332, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,5|A,91)      total(A,91|C,5) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1099, 332, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7164):
AACGTTGACATGGACTTTGAAGTGGAAAATGCTGTGCTGGGAAAAGACTTCAAGCTCTCCATCACCTTCCGGAACAACAGCCACAACCGTTACACCATCA
Y
AGCTTATCTCTCAGCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCCTTGTCCTTCAAG
Celera SNP ID:            hCV11972291
SNP Position Transcript:  1753
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 551, (T,ACA)   (I,ATA)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 551, (T,ACA)   (I,ATA)      



Context             (SEQ ID NO:7165):
CAACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGAC
R
TGACGCTGGAGCCCTTGTCCTTCAAGAAAGAGGCGGTGCTGATCCAAGCCGGCGAGTACATGGGTCAGCTGCTGGAACAAGCGTCCCTGCACTTCTTTGT
Celera SNP ID:            hCV25598400
SNP Position Transcript:  1827
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 576, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:7166):
TTTAACACATTTTTACGATGCCTTGGAATACCAGCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCC
Y
GGAAGAAGATGGGAACGTGAATTCCAAACTCACCAAGGATTCAGTGTGGAACTACCACTGCTGGAATGAAGCATGGATGACAAGGCCTGACCTTCCTGTT
Celera SNP ID:            hCV27540438
SNP Position Transcript:  1165
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1099, 355, (P,CCG)   (L,CTG)      



Gene Number:                 153
Celera Gene:                 hCG20905 - 84000313398873
Celera Transcript:           hCT2250765 - 84000313398893
Public Transcript Accession: NM_000129
Celera Protein:              hCP1790934 - 197000064923575
Public Protein Accession:    NP_000120
Gene Symbol:                 F13A1
Protein Name:                coagulation factor XIII, A1 polypeptide;F13A
Celera Genomic Axis:         GA_x5YUV32VT9V(5842474..5892999)
Chromosome:                  Chr6
OMIM number:                 134570
OMIM Information:            FACTOR XIII, A1 SUBUNIT;F13A1


Transcript Sequence (SEQ ID NO:403):
AAGATTGCCTTTGATGTCTACACGTCAACAGTGAAAGGGGTTCCAGAGAAAAACAAAGCCTCTGGTAAAAAGGGCAAGCTCATCCCAAGATTGAGTATGC
ACGAAGAGGGAGCAGAAACAGGAGATGGGTGCCTCTGGAACAAACATGCTTATGCAGGTCGCTACCCACAGGAGAACAAGGGAACCTACATCCCAGTGCC
TATAGTCTCAGAGTTACAAAGTGGAAAGTGGGGGGCCAAGATTGTCATGAGAGAGGACAGGTCTGTGCGGCTGTCCATCCAGTCTTCCCCCAAATGTATT
GTGGGGAAATTCCGCATGTATGTTGCTGTCTGGACTCCCTATGGCGTACTTYGAACCAGTCGAAACCCAGAAACAGACACGTACATTCTCTTCAATCCTT
GGTGTGAAGGGATTTCTGACTTCATGGCTGCCTCTGCCTCTAGGAGTCCTACTCACACTTGTGCTGCTGCAAGTGAGAAACTTGACCGTCACCTTCAATT
TCAATGTTGGCAACAACAACAAAAGCAGCCACACACAACAYCTGTGAATGCCCAGACCTTAACTGCAGTTTGGGATGGAGGTGGTGCTCAGCTTTTATAT
AAAGGGGGAAGCAAGTATGATGCTGTGTATCTGGACAATGAGAAAGAAAGAGAAGAGTWTGTCCTGAATGACATCGGGGTAATTTTTTATGGAGAGGTCA
ATGACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGATGGCATCCTGGACACTTGCCTGTATGTGATGGACAGAGCACAAATGGACCTCTCTGG
AAKAGGGAATCCCATCAAAGTCAGCCGTGTGGGGTCTGCAATGGGCTTTCTCACTTACGAAGTGGGTATTGATTCTTTGCAGGATCCTGTGTGCCTGGTC
ATAGAGGCTAGAAATCCCATTCGCAGGTTGCAAATGCCAGAGCAGCGGTATAGGTGGCATGTGGACTCTCCAGAAGAAATAGCACATAGATCTCAGTTCA
TCCCCAGGATCTGGCAGCAACTATGGGCAGAGAATTTCCCCCAAGGAGATGCAGCTGCTTCTGCAAAGGCTGCCGYTACTGCAGATAAAGGCTCGTTATT
CACTGTGACACACCTACATGTACCACCTCCATCCATATTTGCTCCAGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCTRT
GCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAGSGTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTT
TTGCTGGTGTCTTTAACACATTTTTACRATGCCTTGGAATACCMGCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAAT
GGACATCTTCCYGGAAGAAGATGGGAACGTGAATTCCAAACTCACCAAGGATTCAGTGTGCAAGGATCTCAGGAGCTATTGGCCTCATACTTACCTCCCT
CCACAGGCTCTGGTCAAACACACCCACCTCAACCTGTCTTCCCCGCTCCTGGTTGGTTTGTGGCTGGGGCCCCTCTCCTCTCCAAGTCCCAATGGTCCAC
AGTTTGTGATGAATCAGTTTGTCCAGTTAGGTCTCAGTGACTCAGGGTGTCCTCTTCTCCATGACTCAGCCAAATCCCAGCCTGCCGAAACCAGAAATCA
GCCAGCAGGGAGGCTCAGAGGAAAAGTACAAGAGGGTGTGAGAGGTGTATTCTGCTCGCCACACTCCAGAGCCAGGAGTGACAAGTTTGGCTCTGTCTCT
TGCTGTGACCCTTCTCGCCTTACTACTGCAGACCATCAAGGACAGACTGCTTCCTGGTTTGCCACCGTAGGTCCCCTGCATGAAGGATGTTTCCTTCCAA
GAGGGAGCCTCACCTCAGGGGGGCTACAGTTTTGCACAGAGCGGCCCCACTGTTGACGCCAACAGAGGCCATGGTCTGAGCTCCTTAGCTGTTCAGGAGA
GGGMTGGGGACTCAGGAACCTCAGAAGGGCAGAGCAGGGCAGAG

Protein Sequence    (SEQ ID NO:1100):
MHEEGAETGDGCLWNKHAYAGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETDTYILFN
PWCEGISDFMAASASRSPTHTCAAASEKLDRHLQFQCWQQQQKQPHTTSVNAQTLTAVWDGGGAQLLYKGGSKYDAVYLDNEKEREEYVLNDIGVIFYGE
VNDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMGFLTYEVGIDSLQDPVCLVIEARNPIRRLQMPEQRYRWHVDSPEEIAHRSQ
FIPRIWQQLWAENFPQGDAAASAKAAATADKGSLFTVTHLHVPPPSIFAPVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCW
VFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVCKDLRSYWPHTYLPPQALVKHTHLNLSSPLLVGLWLGPLSSPSPNG
PQFVMNQFVQLGLSDSGCPLLHDSAKSQPAETRNQPAGRLRGKVQEGVRGVFCSPHSRARSDKFGSVSCCDPSRLTTADHQGQTASWFATVGPLHEGCFL
PRGSLTSGGLQFCTERPHC


SNP Information

Context             (SEQ ID NO:7167):
GACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGATGGCATCCTGGACACTTGCCTGTATGTGATGGACAGAGCACAAATGGACCTCTCTGGAA
K
AGGGAATCCCATCAAAGTCAGCCGTGTGGGGTCTGCAATGGGCTTTCTCACTTACGAAGTGGGTATTGATTCTTTGCAGGATCCTGTGTGCCTGGTCATA
Celera SNP ID:            hCV27536695
SNP Position Transcript:  803
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 236, (R,AGA)   (I,ATA)      



Context             (SEQ ID NO:7168):
TTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTACGATGCCTTGGAATACC
M
GCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCTGGAAGAAGATGGGAACGTGAATTCCAAACTCA
Celera SNP ID:            hCV11972274
SNP Position Transcript:  1344
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,28|C,10)   total(A,65|C,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1100, 416, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,5|A,91)      total(A,91|C,5) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1100, 416, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7169):
ACTGGAAGCGTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTAC
R
ATGCCTTGGAATACCAGCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCTGGAAGAAGATGGGAAC
Celera SNP ID:            hCV27861950
SNP Position Transcript:  1328
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 411, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7170):
GGAGCCTCACCTCAGGGGGGCTACAGTTTTGCACAGAGCGGCCCCACTGTTGACGCCAACAGAGGCCATGGTCTGAGCTCCTTAGCTGTTCAGGAGAGGG
M
TGGGGACTCAGGAACCTCAGAAGGGCAGAGCAGGGCAGAG
Celera SNP ID:            hCV16065425
SNP Position Transcript:  2004
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1100, None   



Context             (SEQ ID NO:7171):
TTAACTGCAGTTTGGGATGGAGGTGGTGCTCAGCTTTTATATAAAGGGGGAAGCAAGTATGATGCTGTGTATCTGGACAATGAGAAAGAAAGAGAAGAGT
W
TGTCCTGAATGACATCGGGGTAATTTTTTATGGAGAGGTCAATGACATCAAGACCAGAAGCTGGAGCTATGGTCAGTTTGAAGATGGCATCCTGGACACT
Celera SNP ID:            hCV15983577
SNP Position Transcript:  659
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 188, (Y,TAT)   (F,TTT)      



Context             (SEQ ID NO:7172):
AGAGGACAGGTCTGTGCGGCTGTCCATCCAGTCTTCCCCCAAATGTATTGTGGGGAAATTCCGCATGTATGTTGCTGTCTGGACTCCCTATGGCGTACTT
Y
GAACCAGTCGAAACCCAGAAACAGACACGTACATTCTCTTCAATCCTTGGTGTGAAGGGATTTCTGACTTCATGGCTGCCTCTGCCTCTAGGAGTCCTAC
Celera SNP ID:            hCV27536432
SNP Position Transcript:  352
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 86, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7173):
TTCACTGTGACACACCTACATGTACCACCTCCATCCATATTTGCTCCAGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCT
R
TGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAGCGTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTT
Celera SNP ID:            hCV27540483
SNP Position Transcript:  1199
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 368, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7174):
TTTAACACATTTTTACGATGCCTTGGAATACCAGCAAGAATTGTTACCAATTATTTCTCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCC
Y
GGAAGAAGATGGGAACGTGAATTCCAAACTCACCAAGGATTCAGTGTGCAAGGATCTCAGGAGCTATTGGCCTCATACTTACCTCCCTCCACAGGCTCTG
Celera SNP ID:            hCV27540438
SNP Position Transcript:  1412
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 439, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7175):
TAGGAGTCCTACTCACACTTGTGCTGCTGCAAGTGAGAAACTTGACCGTCACCTTCAATTTCAATGTTGGCAACAACAACAAAAGCAGCCACACACAACA
Y
CTGTGAATGCCCAGACCTTAACTGCAGTTTGGGATGGAGGTGGTGCTCAGCTTTTATATAAAGGGGGAAGCAAGTATGATGCTGTGTATCTGGACAATGA
Celera SNP ID:            hCV2170283
SNP Position Transcript:  541
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 149, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:7176):
GAAATAGCACATAGATCTCAGTTCATCCCCAGGATCTGGCAGCAACTATGGGCAGAGAATTTCCCCCAAGGAGATGCAGCTGCTTCTGCAAAGGCTGCCG
Y
TACTGCAGATAAAGGCTCGTTATTCACTGTGACACACCTACATGTACCACCTCCATCCATATTTGCTCCAGTGAATGCCAAAGATGACGAAGGTGTCCTC
Celera SNP ID:            hCV8786788
SNP Position Transcript:  1076
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|T,6)      total(C,5|T,6) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 327, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:7177):
TATTTGCTCCAGTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGGGACAATATCTATGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAG
S
GTTGACATTCTATTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGTGTCTTTAACACATTTTTACGATGCCTTG
Celera SNP ID:            hCV27540342
SNP Position Transcript:  1236
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1100, 380, (S,AGC)   (R,AGG)      



Gene Number:                 154
Celera Gene:                 hCG20960 - 79000075510514
Celera Transcript:           hCT12044 - 79000075510515
Public Transcript Accession: NM_007361
Celera Protein:              hCP40130 - 197000069452464
Public Protein Accession:    NP_031387
Gene Symbol:                 NID2
Protein Name:                nidogen 2 (osteonidogen)
Celera Genomic Axis:         GA_x5YUV32VVQK(705194..769753)
Chromosome:                  Chr14
OMIM number:                 605399
OMIM Information:            NIDOGEN 2;NID2


Transcript Sequence (SEQ ID NO:404):
GCCTTAGAAAAGTTAACGAGAACCAGATGTGGTGGCCACTGCCGAACTTTCTCAGAGCCGGTGATTGGTCCCCAGCCGAGGGCCTCAGCCAATTAGCTTG
CTGGGTGGGCCTGGAGTCCCGCCCCGCCCAGGCGCCCGCGGAGATCCAGGTTCGAGGCTGGCGCGGCGCGGAGAGTGGGCTGGAGGCCGGGGCGGGACGC
GTTGTGCAGCGGGTAAGCGCACGGCCGAGCGAGCATGGAGGGGGACCGGGTGGCCGGGCGGCCGGTGCTGTCGTCGTTACCAGTGCTACTGCTGCTGCMG
TTGCTAATGTTGCGGGCCGCGGCGCTGCACCCAGACGAGCTCTTCCCACACGGGGAGTCGTGGKGGGACCAGCTCCTGCAGGAAGGCGACGACGAAAGCT
CAGCCGTGGTGAAGCTGGCGAATCCCCTGCACTTCTACGAAGCCCGATTCAGCAACCTCTACGTGGGCACCAACGGCATCATCTCCACTCAGGACTTCCC
CAGGGAAACGCAGTATGTGGACTATGATTTCCCYACCGACTTCCCGGCCATCGCCCCTTTTCTGGCGGACATCGACACGAGCCACSGCAGAGGCCGAGTC
CTGTACCGAGAGGACACCTCCCCCGCAGTGCTGGGCCTGGCCGCCCGCTATGTGCGCGCTGGCTTCCCGCGCTCTGCGCGCTTTACCCCCACCCACGCCT
TCCTGGCCACCTGGGAGCAGGTAGGCGCTTACGAGGAGGTCAAGCGCGGGGCGCTGCCCTCGGGAGAGCTGAACACTTTCCAGGCAGTTTTGGCATCTGA
TGGGTCTGATAGCTACGCCCTCTTTCTTTATCCTGCCAACGGCCTGCAGTTCCTTGGAACCCGCCCCAAAGAGTCTTACAATGTCCAGCTTCAGCTTCCA
GCTCGGGTGGGCTTCTGCCGAGGGGAGGCTGATGATCTGAAGTCAGAAGGACCATATTTCAGCTTGACTAGCACTGAACAGTCTGTGAAAAATCTCTATC
AACTAAGCAACCTGGGGATCCCTGGAGTGTGGGCTTTCCATATCGGCAGCACTTCCCCGTTGGACAATGTCAGGCCAGCTGCAGTTGGAGACCTTTCCGC
TGCCCACTCTTCTGTTCCCCTGGGACGTTCCTTCAGCCATGCTACAGCCCTGGAAAGTGACTATAATGAGGRCAATTTGGATTACTAYGATGTGAATGAG
GAGGAAGCTGAATACCTTCCGGGTGAACCAGAGGAGGCATTGAATGGCCACAGCAGCATTGATGTTTCCTTCCAATCCAAAGTGGATACAAAGCMTTTAG
AGGAATCTTCCACCTTGGATCCTCACACCAAAGAAGGAACATCTCTGGGAGAGGTAGGGGGCCCAGATTTAAAAGGCCAAGTTGAGCCCTGGGATGAGAG
AGAGACCAGAAGCCCAGCTCCACCAGAGGTAGACAGAGATTCACTGGCTCCTTCCTGGGAAACCCCACCACCGTACCCCGAAAACGGAAGCATCCAGCCC
TACCCAGATGGAGGGCCAGTGCCTTCGGAAATGGATGTTCCCCCAGCTCATCCTGAAGAAGAAATTGTTCTTCGAAGTTACCCTGCTTCAGRTCACACTA
CACCCTTAAGTCGAGGGACGTATGAGGTGGGACTGGAAGACAACATAGGTTCCAACACCGAGGTCTTCACGTATAATGCTGCCAACAAGGAAACCTGTGA
ACACAACCACAGACAATGCTCCCGGCATGCCTTCTGCACGGACTATGCCACTGGCTTCTGCTGCCACTGCCAATCCAAGTTTTATGGAAATGGGAAGCAC
TGTCTGCCTGARGGGGCACCTCACCGAGTGAATGGGAAAGTGAGTGGCCACCTCCACGTGGGCCATACACCCGTGCACTTCACTGATGTGGACCTGCATG
CGTATATCGTGGGCAATGATGGCAGAGCCTACACGGCCATCAGCCACATCCCACAGCCAGCAGCCCAGGCCCTCCTCCCCCTCACACCAATTGGAGGCCT
GTTTGGCTGGCTCTTTGCTTTAGAAAAACCTGGCTCTGAKAACGGCTTCAGCCTCGCAGGTGCTGCCTTTACCCATGACATGGAAGTTACATTCTACCCG
GGAGAGGAGACGGTTCGTATCACTCAAACTGCTGAGGGACTTGACCCAGAGAACTACCTGAGCATTAAGACCAACATTCAAGGCCAGGTGCCTTACGTCY
CAGCAAATTTCACAGCCCACATCTCTCCCTACAAGGAGCTGTACCACTACTCCGACTCCACTGTGACCTCTACAAGTTCCAGAGACTACTCTCTGACTTT
TGGTGCAATCAACCAAACATGGTCCTACCGCATCCACCAGAACATCACTTACCAGGTGTGCAGGCAYGCCCCCAGACACCCGTCCTTCCCCACCACCCAG
CAGCTGAACRTGGACCGGGTCTTTGCCTTGTATAATGAYGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAGARGATTCAG
ACCCCACTCCGGKGAATCCTTGCTATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTGAGTGCGC
ATCTGGGTACCAGGGAGATGGACGKAACTGTGTGGATGAAAATGAATGTGCAACTGGCTTTCATCGCTGTGGCCCCAACTCTGTATGTATCAACTTGCCT
GGAAGCTACAGGTGTGAGTGCCRGAGTGGTTATGAGTTTGCAGATGACCGGCATACTTGCATCTTGATCACCCCACCTGCCAACCCCTGTGAGGATGGCA
GTCATACCTGTGCTCCTGCTGGGCAGGCCCRGTGTGTTCACCATGGAGGCAGCACGTTCAGCTGTGCCTGCCTGCCTGGTTATGCCGGCGATGGGCACCA
GTGCACTGATGTAGATGAATGCTCAGAAAACAGATGTCACCCTGCAGCTACCTGYTACAATACTCCTGGTTCCTTCTCCTGCCGTTGTCAACCCGGATAT
TATGGGGATGGATTTCAGTGCATACCTGACTCCACCTCAAGCCTGACACCCTGTGAACAACAGCAGCGCCATGCCCAGGCCCAGTATGCCTACCCTGGGG
CCCGGTTCCACATCCCCCAATGCGACGAGCAGGGCAACTTCCTGCCCCTACAGTGTCATGGCAGCACTGGTTTCTGCTGGTGCGTGGACCCTGATGGTCA
TGAAGTTCCTGGTACCCAGACTCCACCTGGCTCCACCCCRCCTCACTGTGGACCATCACCAGAGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGG
AGRGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGRGATGACCAGTACGTGCCMCAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACG
GAAAGAGCGACTTCTGCTGGTGTGTGGACAAAGATGGCAGAGAGGTGCAGGGCACCCGCTCCCAGCCAGGCACCACCCCTGCGTGTATACCCACCGTCGC
TCCACCCATGGTCCGGCCCACGCCCCGGCCAGATGTGACCCCTCCATCTGTGGGCACCTTCCTGCTCTATACTCAGGGCCAGCAGATTGGCTACTTACCC
CTCAATGGCACCAGGCTTCAGAAGGATGCAGCTAAGACCCTGCTGTCTCTGCATGGCTCCATAATCGTGGGAATTGATTACGACTGCCGGGAGAGGATGG
TGTACTGGACAGATGTTGCTGGACGGACAATCAGCCGTGCYGGTCTGGAACTGGGAGCAGAGCCTGAGACGATCGTGAATTCAGGTCTGATAAGCCCTGA
AGGACTTGCCATAGACCACATCCGCAGAACAATGTACTGGACGGACAGTGTCCTGGATAAGATAGAGAGCGCCCTGCTGGATGGCTCTGAGCGCAAGGTC
CTCTTCTACACAGATCTGGTGAATCCCCGTGCCATCGCTGTGGATCCAATCCGAGGCAACTTGTACTGGACAGACTGGAATAGAGAAGCTCCTAAAATTG
AAACGTCATCTTTAGATGGAGAAAACAGAAGAATTCTGATCAATACAGACATTGGATTGCCCAATGGCTTAACCTTTGACCCTTTCTCTAAACTGCTCTG
CTGGGCAGATGCAGGAACCAAAAAACTGGAGTGTACACTACCTGATGGAACTGGACGGCGTGTCATTCAAAACAACCTCAAGTACCCCTTCAGCATCGTA
AGCTATGCAGATCACTTCTACCACACAGACTGGAGGAGGGATGGTGTTGTATCAGTAAATAAACATAGTGGCCAGTTTACTGATGAGTATCTCCCAGAAC
AACGATCTCACCTCTACGGGATAACTGCAGTCTACCCCTACTGCCCAACAGGAAGAAAGTAAGTACAGTAATGTAAAGGAAGACTTGGAGTTTACAATCA
GAACCTGGACCCTAAAGAACAGTGACTGCAAAGGCAAAGAAAGTAAAAAAGGAATTGGCCATTAGACGTTCCTGAGCATCCAAGATGAACATTTTGTAGT
GCAAAAAGACTTTTGTGAAAAGCTGATACCTCAATCTTTACTACTGTATTTTTAAAAATGAAGGTTGTTATTGCAAGTTTAAAAAGGTAACAGAATTTTA
ACTGTTGCTTATTAAAGCAACWTCTTGTWAACATTTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTG
ATTTTTGCCATGGATTCCTTCTGGCCAAGAAATTWAAGCACATGTGATCAATATAACAWTATAATCCTAAACCTTGACAGTTGGAGAAGCCAATGCAGAA
CTGATGGGAAAGGACCAATTATTTATAGTTTCCCAACAAAAGTTCTAAGATTTTTTACCTCTGCATCAGTGCATTTCTATTTATATCAAAAGGTGCTAAA
ATGATTCAATTTGCATTTTCTGATYCTGTAGTGCCTCTATAGAAGTACCCACAGAAAGTAAAGTATCACATTTATAAATACCAAAGATGTAACAATTTTA
AAATTTTCTAGATTACTCCAATAAAGTGTTTTAAGTTTTCCTATGA

Protein Sequence    (SEQ ID NO:1101):
MEGDRVAGRPVLSSLPVLLLLPLLMLRAAALHPDELFPHGESWGDQLLQEGDDESSAVVKLANPLHFYEARFSNLYVGTNGIISTQDFPRETQYVDYDFP
TDFPAIAPFLADIDTSHGRGRVLYREDTSPAVLGLAARYVRAGFPRSARFTPTHAFLATWEQVGAYEEVKRGALPSGELNTFQAVLASDGSDSYALFLYP
ANGLQFLGTRPKESYNVQLQLPARVGFCRGEADDLKSEGPYFSLTSTEQSVKNLYQLSNLGIPGVWAFHIGSTSPLDNVRPAAVGDLSAAHSSVPLGRSF
SHATALESDYNEDNLDYYDVNEEEAEYLPGEPEEALNGHSSIDVSFQSKVDTKPLEESSTLDPHTKEGTSLGEVGGPDLKGQVEPWDERETRSPAPPEVD
RDSLAPSWETPPPYPENGSIQPYPDGGPVPSEMDVPPAHPEEEIVLRSYPASDHTTPLSRGTYEVGLEDNIGSNTEVFTYNAANKETCEHNHRQCSRHAF
CTDYATGFCCHCQSKFYGNGKHCLPEGAPHRVNGKVSGHLHVGHTPVHFTDVDLHAYIVGNDGRAYTAISHIPQPAAQALLPLTPIGGLFGWLFALEKPG
SENGFSLAGAAFTHDMEVTFYPGEETVRITQTAEGLDPENYLSIKTNIQGQVPYVSANFTAHISPYKELYHYSDSTVTSTSSRDYSLTFGAINQTWSYRI
HQNITYQVCRHAPRHPSFPTTQQLNVDRVFALYNDEERVLRFAVTNQIGPVKEDSDPTPVNPCYDGSHMCDTTARCHPGTGVDYTCECASGYQGDGRNCV
DENECATGFHRCGPNSVCINLPGSYRCECRSGYEFADDRHTCILITPPANPCEDGSHTCAPAGQARCVHHGGSTFSCACLPGYAGDGHQCTDVDECSENR
CHPAATCYNTPGSFSCRCQPGYYGDGFQCIPDSTSSLTPCEQQQRHAQAQYAYPGARFHIPQCDEQGNFLPLQCHGSTGFCWCVDPDGHEVPGTQTPPGS
TPPHCGPSPEPTQRPPTICERWRENLLEHYGGTPRDDQYVPQCDDLGHFIPLQCHGKSDFCWCVDKDGREVQGTRSQPGTTPACIPTVAPPMVRPTPRPD
VTPPSVGTFLLYTQGQQIGYLPLNGTRLQKDAAKTLLSLHGSIIVGIDYDCRERMVYWTDVAGRTISRAGLELGAEPETIVNSGLISPEGLAIDHIRRTM
YWTDSVLDKIESALLDGSERKVLFYTDLVNPRAIAVDPIRGNLYWTDWNREAPKIETSSLDGENRRILINTDIGLPNGLTFDPFSKLLCWADAGTKKLEC
TLPDGTGRRVIQNNLKYPFSIVSYADHFYHTDWRRDGVVSVNKHSGQFTDEYLPEQRSHLYGITAVYPYCPTGRK


SNP Information

Context             (SEQ ID NO:7178):
CGGAACTGTGTGGATGAAAATGAATGTGCAACTGGCTTTCATCGCTGTGGCCCCAACTCTGTATGTATCAACTTGCCTGGAAGCTACAGGTGTGAGTGCC
R
GAGTGGTTATGAGTTTGCAGATGACCGGCATACTTGCATCTTGATCACCCCACCTGCCAACCCCTGTGAGGATGGCAGTCATACCTGTGCTCCTGCTGGG
Celera SNP ID:            hCV25922532
SNP Position Transcript:  2723
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,2)   total(A,1|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 830, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:7179):
CACCAGAGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAGGGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGGGATGACCAGTACGTGCC
M
CAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACGGAAAGAGCGACTTCTGCTGGTGTGTGGACAAAGATGGCAGAGAGGTGCAGGGCACCC
Celera SNP ID:            hCV25922720
SNP Position Transcript:  3357
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,27)   caucasian(C,2)   total(A,1|C,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1041, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:7180):
GGGAGAGGAGACGGTTCGTATCACTCAAACTGCTGAGGGACTTGACCCAGAGAACTACCTGAGCATTAAGACCAACATTCAAGGCCAGGTGCCTTACGTC
Y
CAGCAAATTTCACAGCCCACATCTCTCCCTACAAGGAGCTGTACCACTACTCCGACTCCACTGTGACCTCTACAAGTTCCAGAGACTACTCTCTGACTTT
Celera SNP ID:            hCV27510430
SNP Position Transcript:  2200
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,286|C,1205)   total(C,1205|T,286)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 656, (P,CCA)   (S,TCA)      656, (S,TCA)   (P,CCA)      



Context             (SEQ ID NO:7181):
GCTGATACCTCAATCTTTACTACTGTATTTTTAAAAATGAAGGTTGTTATTGCAAGTTTAAAAAGGTAACAGAATTTTAACTGTTGCTTATTAAAGCAAC
W
TCTTGTAAACATTTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCT
Celera SNP ID:            hCV15804965
SNP Position Transcript:  4622
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1101, None   



Context             (SEQ ID NO:7182):
AATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCTGGCCAAGAAATTAAAGCACATGTGATCAATATAACA
W
TATAATCCTAAACCTTGACAGTTGGAGAAGCCAATGCAGAACTGATGGGAAAGGACCAATTATTTATAGTTTCCCAACAAAAGTTCTAAGATTTTTTACC
Celera SNP ID:            hCV7591820
SNP Position Transcript:  4759
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1101, None   



Context             (SEQ ID NO:7183):
CGTTCAGCTGTGCCTGCCTGCCTGGTTATGCCGGCGATGGGCACCAGTGCACTGATGTAGATGAATGCTCAGAAAACAGATGTCACCCTGCAGCTACCTG
Y
TACAATACTCCTGGTTCCTTCTCCTGCCGTTGTCAACCCGGATATTATGGGGATGGATTTCAGTGCATACCTGACTCCACCTCAAGCCTGACACCCTGTG
Celera SNP ID:            hCV25922556
SNP Position Transcript:  2955
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 907, (C,TGC)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 907, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:7184):
AGGCCAGCTGCAGTTGGAGACCTTTCCGCTGCCCACTCTTCTGTTCCCCTGGGACGTTCCTTCAGCCATGCTACAGCCCTGGAAAGTGACTATAATGAGG
R
CAATTTGGATTACTACGATGTGAATGAGGAGGAAGCTGAATACCTTCCGGGTGAACCAGAGGAGGCATTGAATGGCCACAGCAGCATTGATGTTTCCTTC
Celera SNP ID:            hCV25922735
SNP Position Transcript:  1172
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,2)   total(A,31|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 313, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:7185):
TCTACGAAGCCCGATTCAGCAACCTCTACGTGGGCACCAACGGCATCATCTCCACTCAGGACTTCCCCAGGGAAACGCAGTATGTGGACTATGATTTCCC
Y
ACCGACTTCCCGGCCATCGCCCCTTTTCTGGCGGACATCGACACGAGCCACGGCAGAGGCCGAGTCCTGTACCGAGAGGACACCTCCCCCGCAGTGCTGG
Celera SNP ID:            hCV25598555
SNP Position Transcript:  534
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 100, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 100, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:7186):
AATGAGGAGGAAGCTGAATACCTTCCGGGTGAACCAGAGGAGGCATTGAATGGCCACAGCAGCATTGATGTTTCCTTCCAATCCAAAGTGGATACAAAGC
M
TTTAGAGGAATCTTCCACCTTGGATCCTCACACCAAAGAAGGAACATCTCTGGGAGAGGTAGGGGGCCCAGATTTAAAAGGCCAAGTTGAGCCCTGGGAT
Celera SNP ID:            hCV25598563
SNP Position Transcript:  1295
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,2|C,36)   total(A,2|C,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 354, (H,CAT)   (P,CCT)   



Context             (SEQ ID NO:7187):
GACAATGCTCCCGGCATGCCTTCTGCACGGACTATGCCACTGGCTTCTGCTGCCACTGCCAATCCAAGTTTTATGGAAATGGGAAGCACTGTCTGCCTGA
R
GGGGCACCTCACCGAGTGAATGGGAAAGTGAGTGGCCACCTCCACGTGGGCCATACACCCGTGCACTTCACTGATGTGGACCTGCATGCGTATATCGTGG
Celera SNP ID:            hCV1261213
SNP Position Transcript:  1812
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,17)   caucasian(A,29|G,11)   total(A,48|G,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 526, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 526, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7188):
CACTCAGGACTTCCCCAGGGAAACGCAGTATGTGGACTATGATTTCCCCACCGACTTCCCGGCCATCGCCCCTTTTCTGGCGGACATCGACACGAGCCAC
S
GCAGAGGCCGAGTCCTGTACCGAGAGGACACCTCCCCCGCAGTGCTGGGCCTGGCCGCCCGCTATGTGCGCGCTGGCTTCCCGCGCTCTGCGCGCTTTAC
Celera SNP ID:            hCV25598556
SNP Position Transcript:  586
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,2|G,38)   total(C,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 118, (R,CGC)   (G,GGC)   



Context             (SEQ ID NO:7189):
GAGACCTTTCCGCTGCCCACTCTTCTGTTCCCCTGGGACGTTCCTTCAGCCATGCTACAGCCCTGGAAAGTGACTATAATGAGGACAATTTGGATTACTA
Y
GATGTGAATGAGGAGGAAGCTGAATACCTTCCGGGTGAACCAGAGGAGGCATTGAATGGCCACAGCAGCATTGATGTTTCCTTCCAATCCAAAGTGGATA
Celera SNP ID:            hCV7591921
SNP Position Transcript:  1188
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,2)   total(C,31|T,1)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 318, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 318, (Y,TAT)   (Y,TAC)      318, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7190):
AGAACATCACTTACCAGGTGTGCAGGCACGCCCCCAGACACCCGTCCTTCCCCACCACCCAGCAGCTGAACGTGGACCGGGTCTTTGCCTTGTATAATGA
Y
GAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAGAGGATTCAGACCCCACTCCGGTGAATCCTTGCTATGATGGGAGCCACA
Celera SNP ID:            hCV16178746
SNP Position Transcript:  2439
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,39|T,1)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 735, (D,GAC)   (D,GAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 735, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7191):
TATGAGTTTGCAGATGACCGGCATACTTGCATCTTGATCACCCCACCTGCCAACCCCTGTGAGGATGGCAGTCATACCTGTGCTCCTGCTGGGCAGGCCC
R
GTGTGTTCACCATGGAGGCAGCACGTTCAGCTGTGCCTGCCTGCCTGGTTATGCCGGCGATGGGCACCAGTGCACTGATGTAGATGAATGCTCAGAAAAC
Celera SNP ID:            hCV25598549
SNP Position Transcript:  2831
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 866, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:7192):
GACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAGAGGATTCAGACCCCACTCCGG
K
GAATCCTTGCTATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTGAGTGCGCATCTGGGTACCAG
Celera SNP ID:            hCV16178747
SNP Position Transcript:  2513
SNP Source:               Applera
Population(Allele,Count): african american(G,4|T,22)   caucasian(T,2)   total(G,4|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 760, (G,GGG)   (V,GTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 760, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:7193):
CCTCTACAAGTTCCAGAGACTACTCTCTGACTTTTGGTGCAATCAACCAAACATGGTCCTACCGCATCCACCAGAACATCACTTACCAGGTGTGCAGGCA
Y
GCCCCCAGACACCCGTCCTTCCCCACCACCCAGCAGCTGAACGTGGACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGA
Celera SNP ID:            hCV25598575
SNP Position Transcript:  2367
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 711, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:7194):
TGCTGTCTCTGCATGGCTCCATAATCGTGGGAATTGATTACGACTGCCGGGAGAGGATGGTGTACTGGACAGATGTTGCTGGACGGACAATCAGCCGTGC
Y
GGTCTGGAACTGGGAGCAGAGCCTGAGACGATCGTGAATTCAGGTCTGATAAGCCCTGAAGGACTTGCCATAGACCACATCCGCAGAACAATGTACTGGA
Celera SNP ID:            hCV1261151
SNP Position Transcript:  3741
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,10)   caucasian(C,2)   total(C,22|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1169, (A,GCC)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|T,6)      total(C,4|T,6) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   JBIC-allele(T,302|C,1143)   total(C,1143|T,302)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1169, (A,GCC)   (A,GCT)      1169, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:7195):
CGCCTCACTGTGGACCATCACCAGAGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAGGGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCG
R
GATGACCAGTACGTGCCCCAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACGGAAAGAGCGACTTCTGCTGGTGTGTGGACAAAGATGGCA
Celera SNP ID:            hCV7591851
SNP Position Transcript:  3339
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,18)   caucasian(G,2)   total(A,12|G,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1035, (R,CGA)   (R,CGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,3|G,11)      total(G,11|A,3)Gaucasian(A,9|G,41)   Ghinese(G,3|A,15)   Japanese(G,5|A,33)   African(G,29|A,31)    ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   Caucasian(A,9|G,41)   African-American(G,29|A,31)   no_pop(G,-|A,-)   Asians(G,8|A,48)   total(G,78|A,88)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1035, (R,CGA)   (R,CGG)      1035, (R,CGG)   (R,CGA)      



Context             (SEQ ID NO:7196):
ATAGTTTCCCAACAAAAGTTCTAAGATTTTTTACCTCTGCATCAGTGCATTTCTATTTATATCAAAAGGTGCTAAAATGATTCAATTTGCATTTTCTGAT
Y
CTGTAGTGCCTCTATAGAAGTACCCACAGAAAGTAAAGTATCACATTTATAAATACCAAAGATGTAACAATTTTAAAATTTTCTAGATTACTCCAATAAA
Celera SNP ID:            hCV7591819
SNP Position Transcript:  4925
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1101, None   



Context             (SEQ ID NO:7197):
TCCTGCCCCTACAGTGTCATGGCAGCACTGGTTTCTGCTGGTGCGTGGACCCTGATGGTCATGAAGTTCCTGGTACCCAGACTCCACCTGGCTCCACCCC
R
CCTCACTGTGGACCATCACCAGAGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAGGGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGGG
Celera SNP ID:            hCV11604653
SNP Position Transcript:  3240
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1002, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:7198):
CAACCAAACATGGTCCTACCGCATCCACCAGAACATCACTTACCAGGTGTGCAGGCACGCCCCCAGACACCCGTCCTTCCCCACCACCCAGCAGCTGAAC
R
TGGACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAGAGGATTCAGACCCCACTCC
Celera SNP ID:            hCV25598576
SNP Position Transcript:  2410
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,2|G,38)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 726, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:7199):
CCTCAATCTTTACTACTGTATTTTTAAAAATGAAGGTTGTTATTGCAAGTTTAAAAAGGTAACAGAATTTTAACTGTTGCTTATTAAAGCAACTTCTTGT
W
AACATTTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCTGGCCAAG
Celera SNP ID:            hCV1261144
SNP Position Transcript:  4629
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,6)   total(A,6|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1101, None   



Context             (SEQ ID NO:7200):
TTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCTGGCCAAGAAATT
W
AAGCACATGTGATCAATATAACAATATAATCCTAAACCTTGACAGTTGGAGAAGCCAATGCAGAACTGATGGGAAAGGACCAATTATTTATAGTTTCCCA
Celera SNP ID:            hCV7591828
SNP Position Transcript:  4735
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1101, None   



Context             (SEQ ID NO:7201):
ATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTGAGTGCGCATCTGGGTACCAGGGAGATGGACG
K
AACTGTGTGGATGAAAATGAATGTGCAACTGGCTTTCATCGCTGTGGCCCCAACTCTGTATGTATCAACTTGCCTGGAAGCTACAGGTGTGAGTGCCGGA
Celera SNP ID:            hCV1261172
SNP Position Transcript:  2625
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,1)   caucasian(G,2)   total(G,31|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 797, (R,CGG)   (R,CGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,5|G,6)   total(G,6|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 797, (R,CGG)   (R,CGT)      



Context             (SEQ ID NO:7202):
CCACCCAGCAGCTGAACGTGGACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAGA
R
GATTCAGACCCCACTCCGGTGAATCCTTGCTATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTG
Celera SNP ID:            hCV1261173
SNP Position Transcript:  2493
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,5)   caucasian(A,2)   total(A,27|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 753, (E,GAA)   (E,GAG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,6|A,6)      total(G,6|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 753, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7203):
AAGTTCCTGGTACCCAGACTCCACCTGGCTCCACCCCGCCTCACTGTGGACCATCACCAGAGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAG
R
GAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGGGATGACCAGTACGTGCCCCAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACGGAA
Celera SNP ID:            hCV7591858
SNP Position Transcript:  3303
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1101, 1023, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:7204):
GCGTTGTGCAGCGGGTAAGCGCACGGCCGAGCGAGCATGGAGGGGGACCGGGTGGCCGGGCGGCCGGTGCTGTCGTCGTTACCAGTGCTACTGCTGCTGC
M
GTTGCTAATGTTGCGGGCCGCGGCGCTGCACCCAGACGAGCTCTTCCCACACGGGGAGTCGTGGGGGGACCAGCTCCTGCAGGAAGGCGACGACGAAAGC
Celera SNP ID:            hCV1261282
SNP Position Transcript:  299
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,17)   caucasian(A,32|C,4)   total(A,49|C,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 22, (Q,CAG)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,15)   caucasian(A,28|C,4)   total(A,45|C,19)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 22, (Q,CAG)   (P,CCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(G,43|A,259)   Chinese(C,0|A,58)   Japanese(C,0|A,20)   African(A,38|G,52)   no_pop(C,5|A,5)      total(A,5|C,5) ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 22, (P,CCG)   (Q,CAG)      22, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:7205):
ATCCAGCCCTACCCAGATGGAGGGCCAGTGCCTTCGGAAATGGATGTTCCCCCAGCTCATCCTGAAGAAGAAATTGTTCTTCGAAGTTACCCTGCTTCAG
R
TCACACTACACCCTTAAGTCGAGGGACGTATGAGGTGGGACTGGAAGACAACATAGGTTCCAACACCGAGGTCTTCACGTATAATGCTGCCAACAAGGAA
Celera SNP ID:            hCV25474313
SNP Position Transcript:  1592
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,17)   caucasian(A,1|G,1)   total(A,14|G,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 453, (D,GAT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,20)   caucasian(A,30|G,10)   total(A,44|G,30)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 453, (D,GAT)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIG-allele(A,685|G,808)   total(G,808|A,685)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 453, (G,GGT)   (D,GAT)      453, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7206):
GGTGCTGTCGTCGTTACCAGTGCTACTGCTGCTGCCGTTGCTAATGTTGCGGGCCGCGGCGCTGCACCCAGACGAGCTCTTCCCACACGGGGAGTCGTGG
K
GGGACCAGCTCCTGCAGGAAGGCGACGACGAAAGCTCAGCCGTGGTGAAGCTGGCGAATCCCCTGCACTTCTACGAAGCCCGATTCAGCAACCTCTACGT
Celera SNP ID:            hCV7591984
SNP Position Transcript:  364
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 44, (G,GGG)   (W,TGG)      



Context             (SEQ ID NO:7207):
TCAGCCACATCCCACAGCCAGCAGCCCAGGCCCTCCTCCCCCTCACACCAATTGGAGGCCTGTTTGGCTGGCTCTTTGCTTTAGAAAAACCTGGCTCTGA
K
AACGGCTTCAGCCTCGCAGGTGCTGCCTTTACCCATGACATGGAAGTTACATTCTACCCGGGAGAGGAGACGGTTCGTATCACTCAAACTGCTGAGGGAC
Celera SNP ID:            hCV25922343
SNP Position Transcript:  2040
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,3)   total(G,25|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1101, 602, (E,GAG)   (D,GAT)   



Gene Number:                 155
Celera Gene:                 hCG21012 - 30000063677099
Celera Transcript:           hCT12096 - 30000063677098
Public Transcript Accession: NM_139165
Celera Protein:              hCP38619 - 207000006205756
Public Protein Accession:    NP_631904
Gene Symbol:                 RAET1E
Protein Name:                retinoic acid early transcript 1E;LETAL;ULBP4;bA350J20.7
Celera Genomic Axis:         GA_x54KRFTF0F9(20764097..20778827)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:405):
ACAGAGACTCTGAGGAAGCAGTCACCTCAGGCCTCTCCATCCTAGAGACRGCAGAAGGACAAACATCTCCTGCTGGCACAAGGAAGTCATAACTCATGTG
AGTGGAGCCATGTGGGATTAAGAAGTGATAGGAGAGCTTGCTGTCTGTCTCTGCTCTCCACTGTGTGAGGATACAACAGGAAGACAGCCATCTGGTGAGG
AAGAGAGGGCCCTCGCCAGATACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCARGGTAAAGAAT
TTGGGCAGTGCCCACACCCAYGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACA
GTATGYGAAGAATATCCCTGACTTCTAGCCCTGTGCRCCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCT
TTGCTTCAACTTCACTATAAAATCATTGTCCAGACCTGGACAGCCCTGGTGTGAAGCGCAGGTCTTCTTGAATAAAAATCTTTTCCTTCAGTACAACAGT
GACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAWATGCCACCAGCACTTGGGGAGARTTGACCCAAACGCTGGGAGAAGTGGGGCRAG
ACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACRTGAAGCAGAACGGTG
CACTGGTGCATCCTGGCAGTTCRCCAYCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAG
ATCAAGGAGACATGGAAGAAAGACAGAGGGCTGGAAAAGTATTTCAGGAAGCTCTCAAAGGGAGACTGCGATCACTGGCTCAGGGAATTCTTAGGGCACT
GGGAGGCAATGCCAGAACCGACAGTGTCACCAGTAAATGCTTCAGATATCCACTGGTCTTCTTCTAGTCTACCAGATAGATGGATCATCCTGGGGGCATT
CATCCTGTTASTTTTAATGGGAATTGTTCTCATCTGTGTCTGGTGGCAAAATGGCAGAAGATCCACCTAGAGGTGATACCACGGCGGCGCAGAGTTGTTC
ACCTGTGGTCCTCGATCGCTGACAGCCTTGGCTCCCACTGCTGTGTGTTCCCTGAGTCAAGTGGAGGCGGAGCCTGCAATGAGCGGAGATCGCGCCTCTG
CATTCCAGTCTTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTTTTTTTCAGTACATATTTTTTAAAAGATAGGGCTGGGCACAGCAGCTCAC
ATCTATAATCCCAACACTTTGGGAGGCCTAGGCAGGAGGATCACTTGAGCCCAGGAATCTGAAGCTGCAGTGAGCCTTTGCTCGTGAGATTGTGGACCTA
TGATCCTACCACCAGCCCACCTGGTTCTAACACCCCCTCCTCTATGTGTGAGAGGGAGAGAAGAAAAGTGAGGGAGAAAAGAGAGATAAGCAAAGAACAG
AGAGGAAAAATGGAAAATAAGAGGAAATTGGGGGAATTAAACAGAGGGGAGGGCATGGATCCCCGGGAGTTAGAAGAGTAGCAGCTTGTGGATTACTACG
CAGTGGAGGAAGAAGAGTTGTTGGAAATTATTTGAGAGGTAGTATAATCATTTGTGAGGCAGTTTTCTGCATTCACCATTTCTCACAGACTAAGTTACTC
ATAAGCAAACGTGCAATTCACATTACACTGAAATTCTTCCCTAATACATCATTTGCATTGGAATAAAGTACGGTTTTCAAACAACCTGATATAGCAGAAC
TGACTGTATAAATTATGTGAGCACAGTGCAAGTAATTCTTTGTTTGTTTGTTTGTTTTTTTGAGACAGAGTCTCACTCTATCTCCCAGGCTGGAGTGTAG
TGGTGCGATCCCGGCTCACTGCAACCTCGATCTCCCAGGCTCAAGCGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCAC
GCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTACGGACCTCAGGTGATCTGCCCCCCTCAGCCT
CTCAAAGTGCTGGGATTATAGCATGAGCCACTGAGCCCAGACACAAGTAGTTCTTTCTGATAAACACTTTAACACTGAATGCA

Protein Sequence    (SEQ ID NO:1102):
MRRISLTSSPVRLLLFLLLLLIALEIMVGGHSLCFNFTIKSLSRPGQPWCEAQVFLNKNLFLQYNSDNNMVKPLGLLGKKVNATSTWGELTQTLGEVGRD
LRMLLCDIKPQIKTSDPSTLQVEMFCQREAERCTGASWQFATNGEKSLLFDAMNMTWTVINHEASKIKETWKKDRGLEKYFRKLSKGDCDHWLREFLGHW
EAMPEPTVSPVNASDIHWSSSSLPDRWIILGAFILLVLMGIVLICVWWQNGRRST


SNP Information

Context             (SEQ ID NO:7208):
ATCTGGTGAGGAAGAGAGGGCCCTCGCCAGATACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCA
R
GGTAAAGAATTTGGGCAGTGCCCACACCCACGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTT
Celera SNP ID:            hCV3082492
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,30)   caucasian(A,2|G,30)   total(A,6|G,60)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,3|G,29)   total(A,7|G,61)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None   



Context             (SEQ ID NO:7209):
TTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATGCGAAGAATATCCCTGACTTCTAGCCCTGTGC
R
CCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCTTTGCTTCAACTTCACTATAAAATCATTGTCCAGACCT
Celera SNP ID:            hCV3082493
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,5|G,33)   total(A,13|G,63)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 12, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,5|G,35)   total(A,13|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 12, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 12, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7210):
ACAGAGACTCTGAGGAAGCAGTCACCTCAGGCCTCTCCATCCTAGAGAC
R
GCAGAAGGACAAACATCTCCTGCTGGCACAAGGAAGTCATAACTCATGTGAGTGGAGCCATGTGGGATTAAGAAGTGATAGGAGAGCTTGCTGTCTGTCT
Celera SNP ID:            hCV16209590
SNP Position Transcript:  50
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None   



Context             (SEQ ID NO:7211):
CTGGTGTGAAGCGCAGGTCTTCTTGAATAAAAATCTTTTCCTTCAGTACAACAGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTA
W
ATGCCACCAGCACTTGGGGAGAATTGACCCAAACGCTGGGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAG
Celera SNP ID:            hCV25933139
SNP Position Transcript:  646
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,31|T,5)   total(A,66|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 82, (N,AAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 82, (N,AAT)   (Y,TAT)      



Context             (SEQ ID NO:7212):
TGAATAAAAATCTTTTCCTTCAGTACAACAGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAAATGCCACCAGCACTTGGGGAGA
R
TTGACCCAAACGCTGGGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCG
Celera SNP ID:            hCV25933172
SNP Position Transcript:  669
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,23|G,13)   total(A,54|G,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1102, 89, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1102, 89, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7213):
GGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAAC
R
TGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTCGCCACCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAAT
Celera SNP ID:            hCV3082497
SNP Position Transcript:  785
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 128, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:7214):
AGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAAATGCCACCAGCACTTGGGGAGAATTGACCCAAACGCTGGGAGAAGTGGGGC
R
AGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGG
Celera SNP ID:            hCV25933504
SNP Position Transcript:  698
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,35)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 99, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:7215):
CAGTGCCCACACCCACGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATG
Y
GAAGAATATCCCTGACTTCTAGCCCTGTGCGCCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCTTTGCTT
Celera SNP ID:            hCV25931972
SNP Position Transcript:  406
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 2, (R,CGA)   (X,TGA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 2, (R,CGA)   (X,TGA)   



Context             (SEQ ID NO:7216):
CATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTC
R
CCACCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAGATCAAGGAGACATGGAAGAAAGA
Celera SNP ID:            hCV3082498
SNP Position Transcript:  823
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 141, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:7217):
AAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTCGCCA
Y
CAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAGATCAAGGAGACATGGAAGAAAGACAGA
Celera SNP ID:            hCV3082499
SNP Position Transcript:  827
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3)   total(C,3|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 142, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7218):
GCCAGAACCGACAGTGTCACCAGTAAATGCTTCAGATATCCACTGGTCTTCTTCTAGTCTACCAGATAGATGGATCATCCTGGGGGCATTCATCCTGTTA
S
TTTTAATGGGAATTGTTCTCATCTGTGTCTGGTGGCAAAATGGCAGAAGATCCACCTAGAGGTGATACCACGGCGGCGCAGAGTTGTTCACCTGTGGTCC
Celera SNP ID:            hCV11415814
SNP Position Transcript:  1111
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,4)      total(G,4|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1102, 237, (L,CTT)   (V,GTT)      



Context             (SEQ ID NO:7219):
TACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCAGGGTAAAGAATTTGGGCAGTGCCCACACCCA
Y
GCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATGCGAAGAATATCCCTGA
Celera SNP ID:            hCV27847642
SNP Position Transcript:  321
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1102, None



Gene Number:                 155
Celera Gene:                 hCG21012 - 30000063677099
Celera Transcript:           hCT2330882 - 30000063677101
Public Transcript Accession: NM_139165
Celera Protein:              hCP1875711 - 207000006205753
Public Protein Accession:    NP_631904
Gene Symbol:                 RAET1E
Protein Name:                retinoic acid early transcript 1E;LETAL;ULBP4;bA350J20.7
Celera Genomic Axis:         GA_x54KRFTF0F9(20764097..20773887)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:406):
ACAGAGACTCTGAGGAAGCAGTCACCTCAGGCCTCTCCATCCTAGAGACRGCAGAAGGACAAACATCTCCTGCTGGCACAAGGAAGTCATAACTCATGTG
AGTGGAGCCATGTGGGATTAAGAAGTGATAGGAGAGCTTGCTGTCTGTCTCTGCTCTCCACTGTGTGAGGATACAACAGGAAGACAGCCATCTGGTGAGG
AAGAGAGGGCCCTCGCCAGATACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCARGGTAAAGAAT
TTGGGCAGTGCCCACACCCAYGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACA
GTATGYGAAGAATATCCCTGACTTCTAGCCCTGTGCRCCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCT
TTGCTTCAACTTCACTATAAAATCATTGTCCAGACCTGGACAGCCCTGGTGTGAAGCGCAGGTCTTCTTGAATAAAAATCTTTTCCTTCAGTACAACAGT
GACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAWATGCCACCAGCACTTGGGGAGARTTGACCCAAACGCTGGGAGAAGTGGGGCRAG
ACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACRTGAAGCAGAACGGTG
CACTGGTGCATCCTGGCAGTTCRCCAYCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAG
ATCAAGGAGACATGGAAGAAAGACAGAGGGCTGGAAAAGTATTTCAGGAAGCTCTCAAAGGGAGACTGCGATCACTGGCTCAGGGAATTCTTAGGGCACT
GGGAGGCAATGCCAGAACCGACAGTGTCACCAGTAAATGCTTCAGATATCCACTGGTCTTCTTCTAGTCTACCAGATAGATGGATCATCCTGGGGGCATT
CATCCTGTTASTTTTAATGGGAATTGTTCTCATCTGTGTCTGGTGGCAAAATGGTGAGTGGCAGGCTGGTCTCTGGCCCTTGAGGACGTCTTAGTCTGGT
AAGGACTCAAGAGAGGTGAATCATGGGTCTCATCCAAGCCCCCGCTCCCTGATCCATCTCTCTCCACAGAAATGGTGCACTGCCTTAGTCTTGAGCCCCC
ACACTACACAGCAGGGCTGGCAGCACAATGTGCAGTGAGAGGAGGGATGAAGCAATCATCTCCTCTCGAGGAGGGGC

Protein Sequence    (SEQ ID NO:1103):
MRRISLTSSPVRLLLFLLLLLIALEIMVGGHSLCFNFTIKSLSRPGQPWCEAQVFLNKNLFLQYNSDNNMVKPLGLLGKKVNATSTWGELTQTLGEVGRD
LRMLLCDIKPQIKTSDPSTLQVEMFCQREAERCTGASWQFATNGEKSLLFDAMNMTWTVINHEASKIKETWKKDRGLEKYFRKLSKGDCDHWLREFLGHW
EAMPEPTVSPVNASDIHWSSSSLPDRWIILGAFILLVLMGIVLICVWWQNGEWQAGLWPLRTS


SNP Information

Context             (SEQ ID NO:7220):
ATCTGGTGAGGAAGAGAGGGCCCTCGCCAGATACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCA
R
GGTAAAGAATTTGGGCAGTGCCCACACCCACGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTT
Celera SNP ID:            hCV3082492
SNP Position Transcript:  290
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,30)   caucasian(A,2|G,30)   total(A,6|G,60)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,3|G,29)   total(A,7|G,61)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None   



Context             (SEQ ID NO:7221):
TTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATGCGAAGAATATCCCTGACTTCTAGCCCTGTGC
R
CCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCTTTGCTTCAACTTCACTATAAAATCATTGTCCAGACCT
Celera SNP ID:            hCV3082493
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,5|G,33)   total(A,13|G,63)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 12, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,5|G,35)   total(A,13|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 12, (H,CAC)   (R,CGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 12, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7222):
ACAGAGACTCTGAGGAAGCAGTCACCTCAGGCCTCTCCATCCTAGAGAC
R
GCAGAAGGACAAACATCTCCTGCTGGCACAAGGAAGTCATAACTCATGTGAGTGGAGCCATGTGGGATTAAGAAGTGATAGGAGAGCTTGCTGTCTGTCT
Celera SNP ID:            hCV16209590
SNP Position Transcript:  50
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None   



Context             (SEQ ID NO:7223):
CTGGTGTGAAGCGCAGGTCTTCTTGAATAAAAATCTTTTCCTTCAGTACAACAGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTA
W
ATGCCACCAGCACTTGGGGAGAATTGACCCAAACGCTGGGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAG
Celera SNP ID:            hCV25933139
SNP Position Transcript:  646
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,31|T,5)   total(A,66|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 82, (N,AAT)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 82, (N,AAT)   (Y,TAT)      



Context             (SEQ ID NO:7224):
TGAATAAAAATCTTTTCCTTCAGTACAACAGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAAATGCCACCAGCACTTGGGGAGA
R
TTGACCCAAACGCTGGGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCG
Celera SNP ID:            hCV25933172
SNP Position Transcript:  669
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,23|G,13)   total(A,54|G,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1103, 89, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1103, 89, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7225):
GGAGAAGTGGGGCGAGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAAC
R
TGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTCGCCACCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAAT
Celera SNP ID:            hCV3082497
SNP Position Transcript:  785
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 128, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:7226):
AGTGACAACAACATGGTCAAACCTCTGGGCCTCCTGGGGAAGAAGGTAAATGCCACCAGCACTTGGGGAGAATTGACCCAAACGCTGGGAGAAGTGGGGC
R
AGACCTCAGGATGCTCCTTTGTGACATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGG
Celera SNP ID:            hCV25933504
SNP Position Transcript:  698
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,35)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 99, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:7227):
CAGTGCCCACACCCACGCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATG
Y
GAAGAATATCCCTGACTTCTAGCCCTGTGCGCCTTCTTTTGTTTCTGCTGTTGCTACTAATAGCCTTGGAGATCATGGTTGGTGGTCACTCTCTTTGCTT
Celera SNP ID:            hCV25931972
SNP Position Transcript:  406
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 2, (R,CGA)   (X,TGA)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 2, (R,CGA)   (X,TGA)   



Context             (SEQ ID NO:7228):
CATCAAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTC
R
CCACCAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAGATCAAGGAGACATGGAAGAAAGA
Celera SNP ID:            hCV3082498
SNP Position Transcript:  823
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 141, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:7229):
AAACCCCAGATAAAGACCAGTGATCCTTCCACTCTGCAAGTCGAGATGTTTTGTCAACGTGAAGCAGAACGGTGCACTGGTGCATCCTGGCAGTTCGCCA
Y
CAATGGAGAGAAATCCCTCCTCTTTGACGCAATGAACATGACCTGGACAGTAATTAATCATGAAGCCAGTAAGATCAAGGAGACATGGAAGAAAGACAGA
Celera SNP ID:            hCV3082499
SNP Position Transcript:  827
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3)   total(C,3|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 142, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7230):
GCCAGAACCGACAGTGTCACCAGTAAATGCTTCAGATATCCACTGGTCTTCTTCTAGTCTACCAGATAGATGGATCATCCTGGGGGCATTCATCCTGTTA
S
TTTTAATGGGAATTGTTCTCATCTGTGTCTGGTGGCAAAATGGTGAGTGGCAGGCTGGTCTCTGGCCCTTGAGGACGTCTTAGTCTGGTAAGGACTCAAG
Celera SNP ID:            hCV11415814
SNP Position Transcript:  1111
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,4)      total(G,4|C,2) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1103, 237, (L,CTT)   (V,GTT)      



Context             (SEQ ID NO:7231):
TACCGGACCTGCTGACACCTTGATCTTGGACTTCCCATCTTCCAGGAAGGCCTGACCTCAGTTGTTCCAGGGTAAAGAATTTGGGCAGTGCCCACACCCA
Y
GCTGTTGGATAACATTTCTTCACCATACCAGTGAGGGTGAATGTGTACACGCCCAGCTTCCTGCCTGTTACTCTCCACAGTATGCGAAGAATATCCCTGA
Celera SNP ID:            hCV27847642
SNP Position Transcript:  321
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1103, None



Gene Number:                 156
Celera Gene:                 hCG21749 - 145000147690836
Celera Transcript:           hCT12842 - 145000147690837
Public Transcript Accession: NM_006888
Celera Protein:              hCP39301 - 197000069390763
Public Protein Accession:    NP_008819
Gene Symbol:                 CALM1
Protein Name:                calmodulin 1 (phosphorylase kinase, delta);CALML2;CAMI;DD132;PHKD
Celera Genomic Axis:         GA_x5YUV32W0QP(37665046..37676288)
Chromosome:                  Chr14
OMIM number:                 114180
OMIM Information:            CALMODULIN 1;CALM1


Transcript Sequence (SEQ ID NO:407):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCYGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAKCGCACAGCGCGCCT
TAGCAGCAGCAGCAGCAGCAGCRGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGYTCCCTCTGCTCTTCCTCCCTTCG
CTCGCACCATGGCTGATCAGCTGACCGAAGAACAGATTGCTGAATTCAAGGAAGCCTTCTCCCTATTTGATAAAGATGGCGATGGCACCATCACAACAAA
GGAACTTGGAACTGTCATGAGGTCACTGGGTCAGAACCCAACAGAAGCTGAATTGCAGGATATGATCAATGAAGTGGATGCTGATGGTAATGGCACCATT
GACTTCCCCGAATTTTTGACTATGATGGCTAGAAAAATGAAAGATACAGATAGTGAAGAAGAAATCCGTGAGGCATTCCGAGTCTTTGACAAGGATGGCA
ATGGTTATATCAGTGCAGCAGAACTACGTCACGTCATGACAAACTTAGGAGAAAAACTAACAGATGAAGAAGTAGATGAAATGATCAGAGAAGCAGATAT
TGATGGAGACGGACAAGTCAACTATGAAGAATTCGTACAGATGATGACTGCAAAATGAAGACCTACTTTCAACTCCTTTTTCCCCCCTCTAGAAGAATCA
AATTGAATCTTTTACTTACCTCTTGCAAAAAAAAGAAAAAAGAAAAAAGTTCATTTATTCATTCTGTTTCTATATAGCAAAACTGAATGTCAAAAGTACC
TTCTGTCCACACACACAAAATCTGCATGTATTGGTTGGTGGTCCTGTCCCCTAAAGATCAAGCTACACATCAGTTTTACAATATAAATACTTGTACTACC
TTAATGATAAGGACTCCTTAAAGTTCCATTTGCTAATGATTAATACACTGTTTGGGCTGGCCAGTTTTTCATGCATGCAGCTTGACGATTGAGCACAGTC
AGGCCTTTGTATTAAAAATGAAAAATGAAAAAACAAATTCAAAACCTATTCAAATGGGTTCTAGTTCAATTTGTYTAGTATAAATTGTCATAGCTGGTTT
ACTGAAAACAAACACATTTAAAATTGGTTTACCTCAGGATGACGTGCAGAAAAATGGGTGAAGGATAAACCGTTGAGACGTGGCCCCACTGGTAGGATGG
TCCTCTTGTACTTCGTGTGCTCCGACCCATGGTGACGATGACACACCCTGGTGGCATGCCCGTGTATGTTGGTTTAGCGTTGTCTGCATTGTTCTAGAGT
GAAACAGGTGTCAGGCTGTCACTGTTCACACAAATTTTTAATAAGAAACATTTACCAAGGGAGCATCTTTGGACTCTCTGTTTTTAAAACCTTYTGAACC
ATGACTTGGAGCCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATCAACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCAAGTTGT
AAATGCTAGTCTTTTTTTTTTTTTTTTCCAATAAAAAGACCATTAACTTAAAGTGGTGTTAAATGCTTTGTAAAGCTGAGATCTAAATGGGGACAAGGCA
GGTGGAGGGGAGGCCAGTGTACATGTAAATGCCCACAGCCCAGCATTGGGTTTCCCTCCCAAGGCCCCAGCACCAACCTCTGAGCCCAAGACCTTGCCTG
AAAACAAGCAGATACCGATTGCTTCATCCTATTTATGGACRTGTAGGTCTAGTTGCATTTTCACTGGGGGGAGGGGGGAAGGTGAATTATGGTAACTTTT
AATGATCTATTCAGGCAGTAGAGCTCTTAAGGAAAAAAAAAACCCACTTTCTCTCAAGCATGTATTTAGGGGTTGTTCTCAATTGTGCTGCTGATTACCT
GTCTTATGTAACTACTTGAGACCATCTGCAAGAGACATGATTTAGTGTGTCTGTAATTCAATCTTCGCTGTGTGTGGTAGAAGCAGTAGTCACTTTTGTA
AGCCAGTCTCTTCATGCCTAAAAGACACTACCAGTCACCTTTGATTCGCGACTTTTAATTTATGATTATACTTAGCCTCCTCCTCCTTTTTTTTTTTTTC
CCAAGTTGACTTGACTTTGCTTTTTTCCCCCCAAGTAGAACTAATGCTAGCTTCCAGCTTGAAAGTAAAACTCCAGTGTGGAGTGAATTTTGTGTCTAAT
TATAAACCTGTAACCAAAACTCAGACATCTGGTACTGGTCTTTGCATTGAGATTGGTCCCTGTAAAACCCCCTTTAAAAGCATATTGCATTTAGTACAGA
GCTCTTTTTTGAAATGAAGGCTGGAGATGTGCATTTTTCACGGTGTTAACTGGTTRTATCTTATTAGCAAGGAGATTGGGGTTTTGAGTGTTTGCGTGGG
TGGTTTCAATTTGCCAGGGAACAGTGGCAGGCTGCTAGCAAGGCAGTGAGAAGCTCTTGGCAGCCAAATGGGTGCATTCAGGGCTGATTTATAGAGACCC
TTGGCTTCTCCTTCTCCTACTCCCTGTYTTTCTGGCATTTTGTAGCTTGTTAGATTTTCTGCCAGAGGGGTGGGTCAGAGCAGTGGAGGGGAGACATCGC
CCATGTGCTKCTGCTACTGGTCCTTGGGCTGGGTGGTTGGTAGAGGAGATGTTGACACTATGAGCTAAGGGTTGGCTTTTGTAATTACCTGAATCTGAAA
GGAATGCCTAAGGTTACCTTGGGGTTTCTCTTCTGGTGAGATAGGGTTCCTGGTTTGAGTAAGTTAATGTCCTGGATATTTCTTGTGGCAGGGGGTGGTC
AAAGAGCCTGATTGCTGACCCAGTCTCAGGCCTGTGGTCGATGACCTCTCGGTAGTTTCAAAGGGGGCTGGAGGGGGATATTTGACTTGTTTTTTCGAAA
TGTAGCCTTCTAACCCTCAAGTCTTTAGAAGCTGGGTGGACTCTTAGTGGTCCTGCAGCGTATCCTAAAAGACTACCTTTGAAACAGGATTCTTGTATGG
CCAGGATCSTGTCTGGGAACCAGAAACCCTACACCCTCCCCCTCCAGGGAATGCTGAGTTCCAGTTTTGAGCAGAGGTGAGGCAGAATCCACTGTAGCCT
TCCGCCCTGGTATTTGGGGGGATGACCAGCCCAGGCGTTGGGTGTTAGTCTGCATGAGTTTGTGAGAGGAAATAGCTGGGTGTCCTGGCAGTGCCCTTGA
AGTTGGTTAGGACCTTCCTGTAAACTCTTGCCCCTACTTCTAACTACTCTATAAATATATACATATATTTATATATAAAGTGATTAGTTGAACTGGCATC
CTGCTTTAGCCTGAGACTTGCCATAAGAAACTGCTGAGTACTTGGCAAACCCTTTCATAGTTTTGTTCTCCATCTGTTTGGGGTAGGTGTTGAGYGAGGC
AAATGGATCTCGATATTTCAGATGGGCTTTTGATGCACTGTTGCCAAGGAAGGCTTTTTCTGATTTTTTGACAAATGAATTTTTGCACACTTTCATTGGT
GTCTTTCGGCAACTTACACACATTGAAAATGAGCTATTGTACATATTTTTATATTCTCTTTATAAATGCATGTCTGATTGTACTTGTAACAATATTGTAA
TGAACGGCTGTGCAGTAGGCCCAGCGCTGCTGTGTCTCGTCAGAGGAATAGCTTACCACGAACCCCTCAGCATACTGGGAATCTCTTCCTGAACAACGAA
TGTAAATTTGGTCAAGTCTACTCTTCCGTTCATTCAATTATTTTAAGCATTTGAATTATTTATTGTATATCCTAAATATATTTCTCCTTTGGCAGTGACT
AGATTTCCACTAATGTGTCTTAATCTATCCCTCCAGCTGGCAGTTACTGTTTTTTTAATCCCCTGAAGTTGTCCTGTAGGAGACAGAAATTCTTTGCTGT
CTGTATCCCTTGGAGTAAGAAGGTAGTGGCATGGGTGGAGTGTGTGTTCTTTCTCCAAATCTATTATGATGTTTATTAAACACTTCTGTAGCAAAGATGG
TGGTAGTTCTTTTGTTACTGAAGTTGCCCTTCACCATGGCTATTTGAAAAGGAGATGTACTTGGACGTTTCTGTAAATCTTGAGATAAACTGTTTGGAGA
TTTAACCACCTCTCTGATGGRGGACCAACTCTATGGAAATTGTAAATACGTTTTATTTATAAACCTGGCACTGTATTCAATAAACATTTCTGCAGCCTTT
CATCTCT

Protein Sequence    (SEQ ID NO:1104):
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGY
ISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK


SNP Information

Context             (SEQ ID NO:7232):
CAGGCTGCTAGCAAGGCAGTGAGAAGCTCTTGGCAGCCAAATGGGTGCATTCAGGGCTGATTTATAGAGACCCTTGGCTTCTCCTTCTCCTACTCCCTGT
Y
TTTCTGGCATTTTGTAGCTTGTTAGATTTTCTGCCAGAGGGGTGGGTCAGAGCAGTGGAGGGGAGACATCGCCCATGTGCTTCTGCTACTGGTCCTTGGG
Celera SNP ID:            hCV11474612
SNP Position Transcript:  2528
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,7)   total(C,7|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7233):
GGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCG
Y
TCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATGGCTGATCAGCTGACCGAAGAACAGATTGCTGAATTCAAGGAAGCCTTCTCCCTATTTGATAAAGAT
Celera SNP ID:            hCV2663630
SNP Position Transcript:  177
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7234):
GTGTCGTGGACGCCGTGCCGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGC
R
GCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATGGCTGATCAGCTG
Celera SNP ID:            hCV25474256
SNP Position Transcript:  123
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,31|G,7)   total(A,48|G,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1104, None



Context             (SEQ ID NO:7235):
CTAGAGTGAAACAGGTGTCAGGCTGTCACTGTTCACACAAATTTTTAATAAGAAACATTTACCAAGGGAGCATCTTTGGACTCTCTGTTTTTAAAACCTT
Y
TGAACCATGACTTGGAGCCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATCAACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCA
Celera SNP ID:            hCV7583853
SNP Position Transcript:  1394
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7236):
ATGCAGCTTGACGATTGAGCACAGTCAGGCCTTTGTATTAAAAATGAAAAATGAAAAAACAAATTCAAAACCTATTCAAATGGGTTCTAGTTCAATTTGT
Y
TAGTATAAATTGTCATAGCTGGTTTACTGAAAACAAACACATTTAAAATTGGTTTACCTCAGGATGACGTGCAGAAAAATGGGTGAAGGATAAACCGTTG
Celera SNP ID:            hCV27203401
SNP Position Transcript:  1075
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7237):
CAGCATTGGGTTTCCCTCCCAAGGCCCCAGCACCAACCTCTGAGCCCAAGACCTTGCCTGAAAACAAGCAGATACCGATTGCTTCATCCTATTTATGGAC
R
TGTAGGTCTAGTTGCATTTTCACTGGGGGGAGGGGGGAAGGTGAATTATGGTAACTTTTAATGATCTATTCAGGCAGTAGAGCTCTTAAGGAAAAAAAAA
Celera SNP ID:            hCV7583854
SNP Position Transcript:  1741
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7238):
CCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATCAACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCAAGTTGTAAATGCTAGTC
T
TTTTTTTTTTTTTTTCCAATAAAAAGACCATTAACTTAAAGTGGTGTTAAATGCTTTGTAAAGCTGAGATCTAAATGGGGACAAGGCAGGTGGAGGGGAG
Celera SNP ID:            hCV27203402
SNP Position Transcript:  1512
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7239):
GGTAGAAGCAGTAGTCACTTTTGTAAGCCAGTCTCTTCATGCCTAAAAGACACTACCAGTCACCTTTGATTCGCGACTTTTAATTTATGATTATACTTAG
C
CTCCTCCTCCTTTTTTTTTTTTTCCCAAGTTGACTTGACTTTGCTTTTTTCCCCCCAAGTAGAACTAATGCTAGCTTCCAGCTTGAAAGTAAAACTCCAG
Celera SNP ID:            hCV27203403
SNP Position Transcript:  2076
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|C,6)   total(C,6|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7240):
TCTAACCCTCAAGTCTTTAGAAGCTGGGTGGACTCTTAGTGGTCCTGCAGCGTATCCTAAAAGACTACCTTTGAAACAGGATTCTTGTATGGCCAGGATC
S
TGTCTGGGAACCAGAAACCCTACACCCTCCCCCTCCAGGGAATGCTGAGTTCCAGTTTTGAGCAGAGGTGAGGCAGAATCCACTGTAGCCTTCCGCCCTG
Celera SNP ID:            hCV27465813
SNP Position Transcript:  3009
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7241):
GTAGAAGCAGTAGTCACTTTTGTAAGCCAGTCTCTTCATGCCTAAAAGACACTACCAGTCACCTTTGATTCGCGACTTTTAATTTATGATTATACTTAGC
C
TCCTCCTCCTTTTTTTTTTTTTCCCAAGTTGACTTGACTTTGCTTTTTTCCCCCCAAGTAGAACTAATGCTAGCTTCCAGCTTGAAAGTAAAACTCCAGT
Celera SNP ID:            hCV27203404
SNP Position Transcript:  2077
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|C,6)   total(C,6|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7242):
AAGTTGCCCTTCACCATGGCTATTTGAAAAGGAGATGTACTTGGACGTTTCTGTAAATCTTGAGATAAACTGTTTGGAGATTTAACCACCTCTCTGATGG
R
GGACCAACTCTATGGAAATTGTAAATACGTTTTATTTATAAACCTGGCACTGTATTCAATAAACATTTCTGCAGCCTTTCATCTCT
Celera SNP ID:            hCV11666670
SNP Position Transcript:  4121
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7243):
TAGAAGCAGTAGTCACTTTTGTAAGCCAGTCTCTTCATGCCTAAAAGACACTACCAGTCACCTTTGATTCGCGACTTTTAATTTATGATTATACTTAGCC
T
CCTCCTCCTTTTTTTTTTTTTCCCAAGTTGACTTGACTTTGCTTTTTTCCCCCCAAGTAGAACTAATGCTAGCTTCCAGCTTGAAAGTAAAACTCCAGTG
Celera SNP ID:            hCV27203405
SNP Position Transcript:  2078
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,6)   total(T,6|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7244):
GTCCCTGTAAAACCCCCTTTAAAAGCATATTGCATTTAGTACAGAGCTCTTTTTTGAAATGAAGGCTGGAGATGTGCATTTTTCACGGTGTTAACTGGTT
R
TATCTTATTAGCAAGGAGATTGGGGTTTTGAGTGTTTGCGTGGGTGGTTTCAATTTGCCAGGGAACAGTGGCAGGCTGCTAGCAAGGCAGTGAGAAGCTC
Celera SNP ID:            hCV27520558
SNP Position Transcript:  2356
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7245):
GGCATCCTGCTTTAGCCTGAGACTTGCCATAAGAAACTGCTGAGTACTTGGCAAACCCTTTCATAGTTTTGTTCTCCATCTGTTTGGGGTAGGTGTTGAG
Y
GAGGCAAATGGATCTCGATATTTCAGATGGGCTTTTGATGCACTGTTGCCAAGGAAGGCTTTTTCTGATTTTTTGACAAATGAATTTTTGCACACTTTCA
Celera SNP ID:            hCV7583858
SNP Position Transcript:  3395
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7246):
TAGTCACTTTTGTAAGCCAGTCTCTTCATGCCTAAAAGACACTACCAGTCACCTTTGATTCGCGACTTTTAATTTATGATTATACTTAGCCTCCTCCTCC
T
TTTTTTTTTTTTCCCAAGTTGACTTGACTTTGCTTTTTTCCCCCCAAGTAGAACTAATGCTAGCTTCCAGCTTGAAAGTAAAACTCCAGTGTGGAGTGAA
Celera SNP ID:            hCV27203406
SNP Position Transcript:  2087
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,7)   total(T,7|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Context             (SEQ ID NO:7247):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCCGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATA
K
CGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGC
Celera SNP ID:            hCV25599783
SNP Position Transcript:  86
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,2)   caucasian(G,38)   total(G,72|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1104, None



Context             (SEQ ID NO:7248):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGC
Y
GTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCG
Celera SNP ID:            hCV25599784
SNP Position Transcript:  41
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,30)   total(C,60|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1104, None



Context             (SEQ ID NO:7249):
CCTTCTCCTACTCCCTGTCTTTCTGGCATTTTGTAGCTTGTTAGATTTTCTGCCAGAGGGGTGGGTCAGAGCAGTGGAGGGGAGACATCGCCCATGTGCT
K
CTGCTACTGGTCCTTGGGCTGGGTGGTTGGTAGAGGAGATGTTGACACTATGAGCTAAGGGTTGGCTTTTGTAATTACCTGAATCTGAAAGGAATGCCTA
Celera SNP ID:            hCV11474611
SNP Position Transcript:  2610
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,10)      total(G,1|T,10) ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1104, None   



Gene Number:                 156
Celera Gene:                 hCG21749 - 145000147690836
Celera Transcript:           hCT2329497 - 145000147690847
Public Transcript Accession: NM_006888
Celera Protein:              hCP1867630 - 197000069390764
Public Protein Accession:    NP_008819
Gene Symbol:                 CALM1
Protein Name:                calmodulin 1 (phosphorylase kinase, delta);CALML2;CAMI;DD132;PHKD
Celera Genomic Axis:         GA_x5YUV32W0QP(37665046..37673913)
Chromosome:                  Chr14
OMIM number:                 114180
OMIM Information:            CALMODULIN 1;CALM1


Transcript Sequence (SEQ ID NO:408):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCYGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAKCGCACAGCGCGCCT
TAGCAGCAGCAGCAGCAGCAGCRGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGYTCCCTCTGCTCTTCCTCCCTTCG
CTCGCACCATGGCTGATCAGCTGACCGAAGAACAGATTGCTGAATTCAAGGAAGCCTTCTCCCTATTTGATAAAGATGGCGATGGCACCATCACAACAAA
GGAACTTGGAACTGTCATGAGGTCACTGGGTCAGAACCCAACAGAAGCTGAATTGCAGGATATGATCAATGAAGTGGATGCTGATGGTAATGGCACCATT
GACTTCCCCGAATTTTTGACTATGATGGCTAGAAAAATGAAAGATACAGATAGTGAAGAAGAAATCCGTGAGGCATTCCGAGTCTTTGACAAGGATGGCA
ATGGTTATATCAGTGCAGCAGAACTACGTCACGTCATGACAAACTTAGGAGAAAAACTAACAGATGAAGAAGTAGATGAAATGATCAGAGAAGCAGATAT
TGATGGAGACGGACAAGTCAACTATGAAGAATTCGTACAGATGATGACTGCAAAATGAAGACCTACTTTCAACTCCTTTTTCCCCCCTCTAGAAGAATCA
AATTGAATCTTTTACTTACCTCTTGCAAAAAAAAGAAAAAAGAAAAAAGTTCATTTATTCATTCTGTTTCTATATAGCAAAACTGAATGTCAAAAGTACC
TTCTGTCCACACACACAAAATCTGCATGTATTGGTTGGTGGTCCTGTCCCCTAAAGATCAAGCTACACATCAGTTTTACAATATAAATACTTGTACTACC
TTAATGATAAGGACTCCTTAAAGTTCCATTTGCTAATGATTAATACACTGTTTGGGCTGGCCAGTTTTTCATGCATGCAGCTTGACGATTGAGCACAGTC
AGGCCTTTGTATTAAAAATGAAAAATGAAAAAACAAATTCAAAACCTATTCAAATGGGTTCTAGTTCAATTTGTYTAGTATAAATTGTCATAGCTGGTTT
ACTGAAAACAAACACATTTAAAATTGGTTTACCTCAGGATGACGTGGTCCTCTTGTACTTCGTGTGCTCCGACCCATGGTGACGATGACACACCCTGGTG
GCATGCCCGTGTATGTTGGTTTAGCGTTGTCTGCATTGTTCTAGAGTGAAACAGGTGTCAGGCTGTCACTGTTCACACAAATTTTTAATAAGAAACATTT
ACCAAGGGAGCATCTTTGGACTCTCTGTTTTTAAAACCTTYTGAACCATGACTTGGAGCCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATC
AACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCAAGTTGTAAATGCTAGTCTTTTTTTTTTTTTTTTCCAATAAAAAGACCATTAACTTAAAG
TGGTGTTAAATGCTTTGTAAAGCTGAGATCTAAATGGGGACAAGGCAGGTGGAGGGGAGGCCAGTGTACATGTAAATGCCCACAGCCCAGCATTGGGTTT
CCCTCCCAAGGCCCCAGCACCAACCTCTGAGCCCAAGACCTTGCCTGAAAACAAGCAGATACCGATTGCTTCATCCTATTTATGGACRTGTAGGTCTAGT
TGCATTTTCACTGGGGGGAGGGGGGAAGGTGAATTATGGTAACTTTTAATGATCTATTCAGGCAGTAGAGCTCTTAAGG

Protein Sequence    (SEQ ID NO:1105):
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGY
ISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK


SNP Information

Context             (SEQ ID NO:7250):
GGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCG
Y
TCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATGGCTGATCAGCTGACCGAAGAACAGATTGCTGAATTCAAGGAAGCCTTCTCCCTATTTGATAAAGAT
Celera SNP ID:            hCV2663630
SNP Position Transcript:  177
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1105, None   



Context             (SEQ ID NO:7251):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCCGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATA
K
CGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGC
Celera SNP ID:            hCV25599783
SNP Position Transcript:  86
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,2)   caucasian(G,38)   total(G,72|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1105, None



Context             (SEQ ID NO:7252):
CGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGC
Y
GTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCAGCATCGGAGGTACCCCCG
Celera SNP ID:            hCV25599784
SNP Position Transcript:  41
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,30)   total(C,60|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1105, None



Context             (SEQ ID NO:7253):
GTGTCGTGGACGCCGTGCCGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGC
R
GCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATGGCTGATCAGCTG
Celera SNP ID:            hCV25474256
SNP Position Transcript:  123
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,31|G,7)   total(A,48|G,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1105, None



Context             (SEQ ID NO:7254):
ATGCAGCTTGACGATTGAGCACAGTCAGGCCTTTGTATTAAAAATGAAAAATGAAAAAACAAATTCAAAACCTATTCAAATGGGTTCTAGTTCAATTTGT
Y
TAGTATAAATTGTCATAGCTGGTTTACTGAAAACAAACACATTTAAAATTGGTTTACCTCAGGATGACGTGGTCCTCTTGTACTTCGTGTGCTCCGACCC
Celera SNP ID:            hCV27203401
SNP Position Transcript:  1075
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1105, None   



Context             (SEQ ID NO:7255):
CTAGAGTGAAACAGGTGTCAGGCTGTCACTGTTCACACAAATTTTTAATAAGAAACATTTACCAAGGGAGCATCTTTGGACTCTCTGTTTTTAAAACCTT
Y
TGAACCATGACTTGGAGCCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATCAACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCA
Celera SNP ID:            hCV7583853
SNP Position Transcript:  1341
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1105, None   



Context             (SEQ ID NO:7256):
CCGGCAGAGTAGGCTGTGGCTGTGGACTTCAGCACAACCATCAACATTGCTGTTCAAAGAAATTACAGTTTACGTCCATTCCAAGTTGTAAATGCTAGTC
T
TTTTTTTTTTTTTTTCCAATAAAAAGACCATTAACTTAAAGTGGTGTTAAATGCTTTGTAAAGCTGAGATCTAAATGGGGACAAGGCAGGTGGAGGGGAG
Celera SNP ID:            hCV27203402
SNP Position Transcript:  1459
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1105, None   



Context             (SEQ ID NO:7257):
CAGCATTGGGTTTCCCTCCCAAGGCCCCAGCACCAACCTCTGAGCCCAAGACCTTGCCTGAAAACAAGCAGATACCGATTGCTTCATCCTATTTATGGAC
R
TGTAGGTCTAGTTGCATTTTCACTGGGGGGAGGGGGGAAGGTGAATTATGGTAACTTTTAATGATCTATTCAGGCAGTAGAGCTCTTAAGG
Celera SNP ID:            hCV7583854
SNP Position Transcript:  1688
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1105, None   



Gene Number:                 157
Celera Gene:                 hCG21784 - 104000117760833
Celera Transcript:           hCT2331360 - 104000117761968
Public Transcript Accession: NM_000426
Celera Protein:              hCP1876287 - 197000069409551
Public Protein Accession:    NP_000417
Gene Symbol:                 LAMA2
Protein Name:                laminin, alpha 2 (merosin, congenital muscular dystrophy);LAMM
Celera Genomic Axis:         GA_x54KRFTF0F9(41134210..41767389)
Chromosome:                  Chr6
OMIM number:                 156225
OMIM Information:            LAMININ, ALPHA-2;LAMA2


Transcript Sequence (SEQ ID NO:409):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGAYGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTC
GGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTC
TTATYACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCG
AATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGMCACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAAT
GGAATCGAATACCATTATGTGACAATTACMCTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAA
ACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTGRCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCC
CCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGATTCACATCTCT
TTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGCYATATTCGCCTGAGATTTCAGAGGATCCGCACAC
TGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAGATATTACTACTCGGTCAAGGATATTTCAGTTGG
AGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATAAATCTCGCTGTGAGTGTGAGCATAACACATGTGGCGATAGC
TGTGATCAGTGCTGTCCAGGATTCCATCAGAAACCCTGGAGAGCTGGAACTTTTCTAACTAAAACTGAATGTGAAGCATGCAATTGTCATGGAAAAGCTG
AAGAATGCTATTATGATGAAAATGTTGCCAGAAGAAATCTGAGTTTGAATATACGTGGAAAGTACATTGGAGGGGGTGTCTGCATTAATTGTACCCAAAA
CACTGCTGGTATAAACTGCGAGACATGTACTGATGGCTTCTTCAGACCCAAAGGGGTATCTCCAAATTATCCAAGGCCATGCCAGCCATGTCATTGCGAT
CCAATTGGTTCCTTAAATGAAGTCTGTGTCAAGGATGAGAAACATGCTCGACGAGGTTTGGCACCTGGATCCTGTCATTGCAAAACTGGTTTTGGAGGTG
TGAGCTGTGATCGGTGTGCCAGGGGCTACACTGGCTACCCGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGG
CCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTGYAGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAG
TGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGGYC
GCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTG
GAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGARGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACA
GAACRTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGSACCCATCTGAAGAACATACTA
ATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGTGCTTGCGAATTTGAAGAGAGT
CCTCCTACAAATCACATACAGCTTTGGGATGGATGCCATCTTCAGGTTGAGCTCTGTTAACCTTGAATCCGCTGTCTCCTATCCTACTGATGGAAGCATT
GCAGCAGCTGTAGAAGTGTGTCAGTGCCCACCAGGGTATACTGGCTCCTCTTGTGAATCTTGTTGGCCTAGGCACAGGCGAGTTAACGGCACTATTTTTG
GTGGCATCTGTGAGCCATGTCAGTGCTTTGGTCATGCGGAGTCCTGTGATGACGTCACTGGAGAATGCCTGAACTGTAAGGATCACACAGGTGGCCCATA
TTGTGATAAATGTCTTCCTGGTTTCTATGGCGAGCCTACTAAAGGAACCTCTGAAGACTGTCAACCCTGTGCCTGTCCACTCAATATCCCATCCAATAAC
TTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGRCT
ATTTTGGACAACCCTCTGTACCTGGAGGATCAYGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGG
CTCCTGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCC
TGTCKCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCARACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAAT
GCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGMAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACA
ATRTTGGTGCYAACCTGGAGTCACAGGGAAGAAAYGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCT
CATCTGGGTAATAATTGTGACCCAAAGACTGGGYGATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCC
ACAGCATTACCACTGGTTGTAAGGCTTGTAACTGCAGCACAGTGGGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAA
ATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGARCTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACC
TGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAGRTGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTG
GCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAARCAAAAGGACTGATCCGGAC
GTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACRCGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATT
GTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAAYAATTTGAAGGAAAGAAGTTGATGGCCTATGGGG
GCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCAAGTGATCATTCGAGGTGGGACACCTACTCATGC
TAGAATTATCGTCAGGCATATGGCTGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGAT
CCTCGAGTCCATAGAACTGTGACCYGAGAAGACTTCTTGGATATACTATATGATATTCATTRCATTCTTATCAAAGCTACTTATGGAAATTTCATGCGAC
AAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACTCCTCCAGCTGACTTGATTGAAAAATGTGATTGTCCCCT
GGGCTATTCTGGCCTGTCCTGTGAGGCATGCTTGCCGGGATTTTATCGACTGCGTTCTCAACCAGGTGGCCGCACCCCTGGACCAACCCTGGGCACCTGT
GTTCCATGTCAATGTAATGGACACAGCAGCCTGTGTGACCCTGAAACATCGATATGCCAGAATTGTCAACATCACACTGCTGGTGACTTCTGTGAACGAT
GTGCTCTTGGATACTATGGAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTG
TGTCGCAGAAGGACTTGAYGACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCA
GGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGMACGTGCYGACCTG
GAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCTTCTCGG
TGACTTGGCTCGCCTGGAGCAGATGGTCATGAGCATCAACCTCACTGGTCCGCTGCCTGCGCCATATAAAATGCTGTATGGTCTTGAAAATATGACTCAG
GAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACMGAAATGAACGAGCTGC
TGACSAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGA
GCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACTYGAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTT
CAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAATTGCTGAAGATGAGTTGGTAGCTGCAGAAGCCCTTC
TGAAAAAAGTGAAGAAGCTGTTTGGAGAGTCCCGGGGGGAAAATGAAGAAATGGAGAAGGATCTCCGGGAAAAACTGGCTGACTACAAAAACAAAGTTGA
TGATGCTTGGGACCTTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAG
AAGGAGGCTGTTGARAGCGGCAAACGACAAATTGAGAACACTTTAAAAGARGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACT
CCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTGAGGAGCTTAATGATAAAATAGATGACCTCTCCCAAGAAATAAAGGACAG
GAAGCTTGCTGAGAAGGTGTCCCAGGCTGAGAGCCACGCAGCTCAGTTGAATGACTCATCTGCTGTCCTTGATGGAATCCTTGATGAGGCTAAAAACATC
TCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAARCCAAAGATCTTGCACATG
AAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCTTAACGAAGCCAAGAAGTT
AGCAAATGATGTAAAAGAAAATGAAGACCATCTAAATGGCTTAAAAACCAGGATAGAAAATGCTGATGCTAGAAATGGGGATCTCTTGAGAACTTTGAAT
GACACTTTGGGAAAGTTATCAGCTATTCCAAATGATACAGCTGCTAAACTGCAAGCTGTTAAGGACAAAGCCAGACAAGCCAACGACACAGCTAAAGATG
TACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAACRAATGCTGTGGTTAA
AGATCCTTCCAAGAACATTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGATAAACTCAAACCCATCAAGGAACTT
GAGGATAACCTAAAGAAAAACATCTCTGAGATAAAGGAATTGATAAACCAAGCTCGGAAACAAGCCAATTCTATCAAAGTATCTGTGTCTTCAGGAGGTG
ACTGCATTCGAACATACAAACCAGAAATCAAGAAAGGAAGTTACAATAATATTGTTGTCAACGTAAAGACAGCTGTTGCTGATAACCTCCTCTTTTATCT
TGGAAGTGCCAAATTTATTGACTTTCTGGCTATAGAAATGCGTAAAGGCAAAGTCAGCTTCCTCTGGGATGTTGGATCTGGAGTTGGACGTGTAGAGTAC
CCAGATTTGACTATTGATGACTCATATTGGTACCGTATCGTAGCATCAAGAACTGGGAGAAATGGAACTATTTCTGTGAGAGCCCTGGATGGACCCAAAG
CCAGCATTGTGCCCAGCACACACCATTCGACGTCTCCTCCAGGGTACACGATTCTAGATGTGGATGCAAATGCAATGCTGTTTGTTGGTGGCCTGACTGG
GAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTGRAATTTCCGA
GAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCC
GTCCCATTCGCTGGTAMCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGAG
AGATTTCATGAGTGTGGAGCTCACTGATGGGCACATAAAAGTCAGTTACGATCTGGGCTCAGGAATGGCTTCCGTTGTCAGCAATCAAAACCATAATGAT
GGGAAATGGAAATCATTCACTCTGTCAAGAATTCAAAAACAAGCCAATATATCAATTGTAGATATAGATACTAATCAGGAGGAGAATATAGCAACTTCGT
CTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAGWAACTTGAGTATTCAATAGGCCAGAAG
TAAATCTGAAGAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGTCCCGATTATGTTGGTGTTACCAAAGG
ATGTTCCCTGGAGAATGTTTACACAGTTAGCTTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAATCAACCTGTCA
TTCAGCACCAAGAATGAGTCCGGCATCATTCYTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATG
YAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTSATCAGACCAGAGCCRAATCTGTTTCATGA
TGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTRCAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGACAGTTGAACAG
CCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAAYATTCCTCCTTTTGAAGGCTGCATATGGAATC
TTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGWCGCTGTGCCCATCAGAAACTCCGTGAAGATGAAGA
TGGAGCAGCTCCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGCCCACCCCAGTTCTGACACATGGTCCTTGTGCTGCA
GAATCAGAACCAGCTCTTTTGATAGGGAGCAAGCAGTTCGGGCTTTCAAGAAACAGTCACATTGCAATTGCATTTGATGACACCAAAGTTAAAAACCGTC
TCACAATTGAGTTGGAAGTAAGAACCGAAGCTGAATCCGGCTTGCTTTTTTACATGGCTCGCATCAATCATGCTGATTTTGCAACAGTTCAGCTGAGAAA
TGGATTGCCCTACTTCAGCTATGACTTGGGGAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGATTAAGATAATG
AGAAGTAAGCAAGAAGGAATTCTTTATGTAGATGGGGCTTCCAACAGAACCATCAGTCCCAAAAAAGCCGACATCCTGGATGTCGTGGGAATGCTGTATG
TTGGTGGGTTACCCATCAACTACACTACCCGAAGAATTGGTCCAGTGACCTATAGCATTGATGGCTGCGTCAGGAATCTCCACATGGCAGAGGCCCCTGC
CGATCTGGAACAACCCACCTCCAGCTTCCATGTTGGGACATGTTTTGCAAATGCTCAGAGGGGAACATATTTTGACGGAACCGGTTTTGCCAAAGCAGTT
GGTGGATTCAAAGTGGGATTGGACCTTCTTGTAGAATTTGAATTCCGCACAACTACAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAAAAAATGGATG
GAATGGGTATTGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGCRGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTT
GTGTGATGGACAATGGCATAAAGTCRCTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTYGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCA
GCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCGTTCYGAGGTT
GCATCAGATCCCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTGTATCATGCCC
AGCCAACTAATAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACMAACAAATATATTTTACCTATATATGTTAATTAA
ACTAATTTGTGCATGTACATAGAATTCYTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAA
TAATATTAAACTGATTATTTCATTCT

Protein Sequence    (SEQ ID NO:1106):
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPIT
NAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICT
SFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRP
KGVSPNYPRPCQPCHCDPIGSLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKENVEGGDCSRC
KSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRL
SSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHTGGPYCDKCLPGFYGEPTKGT
SEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYTGPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCA
HGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNY
PRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFEAREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLT
RHEIEMTEKEWKYYGDDPRVHRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYR
LRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTG
PLPAPYKMLYGLENMTQELKHLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGEFIKELARDAEAVNEKAIKLN
ETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQL
NDSSAVLDGILDEAKNISFNATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNEAKKLANDVKENEDHLNGLKT
RIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDKARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNIADADATVKNL
EQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKPEIKKGSYNNIVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKG
KVSFLWDVGSGVGRVEYPDLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLFVGGLTGKLKKADAVRVITFTGC
MGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGTIQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKVSY
DLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGLDLKADDKIYFGGLPTLRNLSIQ


SNP Information

Context             (SEQ ID NO:7258):
GCCTGACTGGGAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTG
R
AATTTCCGAGAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCAT
Celera SNP ID:            hCV27338958
SNP Position Transcript:  6991
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 2314, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:7259):
ATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGG
Y
GATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCCACAGCATTACCACTGGTTGTAAGGCTTGTAACTG
Celera SNP ID:            hCV27338976
SNP Position Transcript:  3134
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1029, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7260):
AAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAAT
R
TTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCAT
Celera SNP ID:            hCV27338977
SNP Position Transcript:  3003
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 985, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7261):
TTCAGCACCAAGAATGAGTCCGGCATCATTCTTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATG
Y
AATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGAT
Celera SNP ID:            hCV1819516
SNP Position Transcript:  7801
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,6|T,26)   total(C,24|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7262):
TCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGCTCACAGT
Y
GATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGC
Celera SNP ID:            hCV25958066
SNP Position Transcript:  9164
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24)   total(C,59|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None



Context             (SEQ ID NO:7263):
AAAGTTGATGTTTCATGTGGACAATGGTGCGGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTC
R
CTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTCGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGA
Celera SNP ID:            hCV25957515
SNP Position Transcript:  9126
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,14|G,6)   total(A,41|G,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None



Context             (SEQ ID NO:7264):
CAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGC
R
GGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGC
Celera SNP ID:            hCV16187372
SNP Position Transcript:  9056
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7265):
AACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGT
S
ATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAA
Celera SNP ID:            hCV1819517
SNP Position Transcript:  7871
SNP Source:               Applera
Population(Allele,Count): african american(C,18|G,20)   caucasian(C,28|G,6)   total(C,46|G,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,6)      total(G,6|C,2) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7266):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGA
Y
GCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACAT
Celera SNP ID:            hCV27862904
SNP Position Transcript:  51
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:7267):
ATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAAT
A
TTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442590
SNP Position Transcript:  9605
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7268):
CACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAA
Y
AATTTGAAGGAAAGAAGTTGATGGCCTATGGGGGCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCA
Celera SNP ID:            hCV27862905
SNP Position Transcript:  3767
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1240, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7269):
AATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAA
T
ATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442591
SNP Position Transcript:  9604
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7270):
GACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCC
R
AATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACC
Celera SNP ID:            hCV16047086
SNP Position Transcript:  7886
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,17)   caucasian(A,5|G,29)   total(A,24|G,46)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7271):
TAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATA
A
TATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442592
SNP Position Transcript:  9603
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7272):
GAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACCCGAGAAGACTTCTTGGATATACTATATGATATTCATT
R
CATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACT
Celera SNP ID:            hCV25962971
SNP Position Transcript:  4062
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1338, (Y,TAC)   (C,TGC)   



Context             (SEQ ID NO:7273):
GGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAAATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGA
R
CTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGG
Celera SNP ID:            hCV25965750
SNP Position Transcript:  3345
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,32)   total(A,57|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1099, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:7274):
CCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACAAACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTC
Y
TTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAATATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV7424552
SNP Position Transcript:  9528
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,15)   caucasian(C,10|T,24)   total(C,13|T,39)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   A(T,0|C,84)   B(T,0|C,84)   C(T,0|C,84)   total(C,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7275):
TGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTG
S
ACCCATCTGAAGAACATACTAATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGT
Celera SNP ID:            hCV25970251
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,2)   caucasian(C,40)   total(C,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 644, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7276):
GAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAA
Y
ATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGTCGCT
Celera SNP ID:            hCV25965737
SNP Position Transcript:  8069
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,36)   total(C,2|T,68)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None



Context             (SEQ ID NO:7277):
CTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTG
M
AACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCC
Celera SNP ID:            hCV8922729
SNP Position Transcript:  2950
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 967, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7278):
GGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAA
Y
GTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGGCG
Celera SNP ID:            hCV27536724
SNP Position Transcript:  3035
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 996, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7279):
GAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTGTGTCGCAGAAGGACTTGA
Y
GACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCAGGCAACCCTGGAGGCTCCT
Celera SNP ID:            hCV25961619
SNP Position Transcript:  4519
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1490, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:7280):
ATCAGGAGGAGAATATAGCAACTTCGTCTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAG
W
AACTTGAGTATTCAATAGGCCAGAAGTAAATCTGAAGAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGT
Celera SNP ID:            hCV25966971
SNP Position Transcript:  7474
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 2475, (R,AGA)   (S,AGT)   



Context             (SEQ ID NO:7281):
CGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGGCCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTG
Y
AGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCT
Celera SNP ID:            hCV16193186
SNP Position Transcript:  1540
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 497, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:7282):
GCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTCTTAT
Y
ACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCT
Celera SNP ID:            hCV25995485
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,35|T,3)   total(C,65|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 52, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 52, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:7283):
CACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACT
Y
GAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTTCAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAAT
Celera SNP ID:            hCV7420811
SNP Position Transcript:  5165
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1706, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7284):
GCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTA
M
CCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGAGAGATTTCATGAGTGTGG
Celera SNP ID:            hCV7423323
SNP Position Transcript:  7117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 2356, (X,TAA)   (Y,TAC)      



Context             (SEQ ID NO:7285):
GGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTT
R
CAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATT
Celera SNP ID:            hCV16047108
SNP Position Transcript:  7947
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,34|G,2)   total(A,67|G,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7286):
TCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTCGCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCA
R
ACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCT
Celera SNP ID:            hCV11692024
SNP Position Transcript:  2848
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36|G,4)   total(A,60|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 933, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,5)      total(G,1|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 933, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:7287):
TGATGAGGCTAAAAACATCTCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAA
R
CCAAAGATCTTGCACATGAAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCT
Celera SNP ID:            hCV27497312
SNP Position Transcript:  5882
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1945, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:7288):
TGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTG
R
CAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCA
Celera SNP ID:            hCV27536874
SNP Position Transcript:  547
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 166, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:7289):
TGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
Y
GAGAAGACTTCTTGGATATACTATATGATATTCATTACATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAAT
Celera SNP ID:            hCV27338969
SNP Position Transcript:  4025
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1326, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7290):
TTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGA
R
AGCGGCAAACGACAAATTGAGAACACTTTAAAAGAGGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATG
Celera SNP ID:            hCV25995105
SNP Position Transcript:  5515
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,7)   caucasian(A,16|G,18)   total(A,23|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1822, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,713|G,754)   total(G,754|A,713) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1822, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7291):
TGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGGCTATTTTGGACAACCCTCTGTACCTGGAGGATCA
Y
GTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGGCTCCTGTCTGATATGTAAACCAGGTACAACAGG
Celera SNP ID:            hCV27973215
SNP Position Transcript:  2633
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 862, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7292):
ACACAGCTAAAGATGTACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAAC
R
AATGCTGTGGTTAAAGATCCTTCCAAGAACATTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGATAAACTCAAAC
Celera SNP ID:            hCV16187380
SNP Position Transcript:  6286
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,24)   caucasian(A,5|G,33)   total(A,9|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 2079, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,275|G,1206)   total(G,1206|A,275) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 2079, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:7293):
GATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGA
R
GACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAG
Celera SNP ID:            hCV25990670
SNP Position Transcript:  1847
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,39)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 600, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7294):
ACCAGAGACACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTAC
M
CTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATG
Celera SNP ID:            hCV26000198
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,11)   caucasian(A,38|C,2)   total(A,55|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 127, (T,ACA)   (T,ACC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 127, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:7295):
AGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGG
Y
CGCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACT
Celera SNP ID:            hCV8922802
SNP Position Transcript:  1699
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 550, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:7296):
GACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
Y
AACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAA
Celera SNP ID:            hCV8922730
SNP Position Transcript:  3011
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 988, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7297):
CTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAG
M
CACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACACTGGATT
Celera SNP ID:            hCV26000397
SNP Position Transcript:  337
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,8)   caucasian(A,40)   total(A,60|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 96, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:7298):
TGGAACTGAGGGGCGTTCAACCTGTATCATGCCCAGCCAACTAATAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAAC
M
AACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGA
Celera SNP ID:            hCV7424544
SNP Position Transcript:  9467
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7299):
ATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGAAAGCGGCAAACGACAAATTGAGAACACTTTAAAAGA
R
GGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTG
Celera SNP ID:            hCV25995180
SNP Position Transcript:  5551
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,13)   caucasian(A,19|G,19)   total(A,32|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1834, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,735|A,756)   total(G,735|A,756) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1834, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7300):
ATACTGGCAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG
M
ACGTGCCGACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTG
Celera SNP ID:            hCV8922738
SNP Position Transcript:  4687
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1546, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7301):
ACACCCCTTAGAAAATGGAGAGATTCACATCTCTTTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGC
Y
ATATTCGCCTGAGATTTCAGAGGATCCGCACACTGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAG
Celera SNP ID:            hCV27483076
SNP Position Transcript:  767
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 240, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:7302):
TTGAAAATATGACTCAGGAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGAC
M
GAAATGAACGAGCTGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGG
Celera SNP ID:            hCV25962157
SNP Position Transcript:  4984
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1645, (T,ACA)   (T,ACC)   



Context             (SEQ ID NO:7303):
TCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAG
R
TGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCAC
Celera SNP ID:            hCV16195136
SNP Position Transcript:  3461
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,26)   caucasian(A,4|G,34)   total(A,8|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1138, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,237|G,1250)   total(G,1250|A,237) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1138, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7304):
GAAATATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGG
W
CGCTGTGCCCATCAGAAACTCCGTGAAGATGAAGATGGAGCAGCTCCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGC
Celera SNP ID:            hCV25971606
SNP Position Transcript:  8165
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,29)   caucasian(T,28)   total(A,3|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,23)   caucasian(T,36)   total(A,3|T,59)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None



Context             (SEQ ID NO:7305):
TGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTC
K
CTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCAAACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAG
Celera SNP ID:            hCV25968656
SNP Position Transcript:  2805
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,6)   caucasian(G,40)   total(G,66|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 919, (R,CGC)   (L,CTC)   



Context             (SEQ ID NO:7306):
TAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGAC
S
AGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTG
Celera SNP ID:            hCV25962195
SNP Position Transcript:  5005
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,35|G,3)   total(C,67|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1106, 1652, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:7307):
AACTTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAG
R
CTATTTTGGACAACCCTCTGTACCTGGAGGATCATGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCT
Celera SNP ID:            hCV25965330
SNP Position Transcript:  2598
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 850, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:7308):
GCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGAGGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAAC
R
TGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGCACCCATCTGAAGAACATACTAATGTA
Celera SNP ID:            hCV25990513
SNP Position Transcript:  1905
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,3|G,37)   total(A,15|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 619, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 619, (H,CAT)   (R,CGT)      619, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:7309):
TACTACCCAGTGCTCTGAAGCAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCAC
R
CGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCC
Celera SNP ID:            hCV25957876
SNP Position Transcript:  3662
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,40)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1205, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:7310):
AAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCGTTC
Y
GAGGTTGCATCAGATCCCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTGTATC
Celera SNP ID:            hCV27338954
SNP Position Transcript:  9294
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Context             (SEQ ID NO:7311):
CAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGCACGTGC
Y
GACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCT
Celera SNP ID:            hCV27528012
SNP Position Transcript:  4694
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1549, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7312):
CTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAA
R
CAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACACGACCACCAAGGGCATTGT
Celera SNP ID:            hCV25968588
SNP Position Transcript:  3581
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1106, 1178, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:7313):
TTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAATCAACCTGTCATTCAGCACCAAGAATGAGTCCGGCATCATTC
Y
TTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTG
Celera SNP ID:            hCV27338957
SNP Position Transcript:  7732
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1106, None   



Gene Number:                 157
Celera Gene:                 hCG21784 - 104000117760833
Celera Transcript:           hCT12877 - 104000117760901
Public Transcript Accession: NM_000426
Celera Protein:              hCP39306 - 197000069409550
Public Protein Accession:    NP_000417
Gene Symbol:                 LAMA2
Protein Name:                laminin, alpha 2 (merosin, congenital muscular dystrophy);LAMM
Celera Genomic Axis:         GA_x54KRFTF0F9(41134210..41767389)
Chromosome:                  Chr6
OMIM number:                 156225
OMIM Information:            LAMININ, ALPHA-2;LAMA2


Transcript Sequence (SEQ ID NO:410):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGAYGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTC
GGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTC
TTATYACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCG
AATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGMCACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAAT
GGAATCGAATACCATTATGTGACAATTACMCTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAA
ACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTGRCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCC
CCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGATTCACATCTCT
TTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGCYATATTCGCCTGAGATTTCAGAGGATCCGCACAC
TGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAGATATTACTACTCGGTCAAGGATATTTCAGTTGG
AGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATAAATCTCGCTGTGAGTGTGAGCATAACACATGTGGCGATAGC
TGTGATCAGTGCTGTCCAGGATTCCATCAGAAACCCTGGAGAGCTGGAACTTTTCTAACTAAAACTGAATGTGAAGCATGCAATTGTCATGGAAAAGCTG
AAGAATGCTATTATGATGAAAATGTTGCCAGAAGAAATCTGAGTTTGAATATACGTGGAAAGTACATTGGAGGGGGTGTCTGCATTAATTGTACCCAAAA
CACTGCTGGTATAAACTGCGAGACATGTACTGATGGCTTCTTCAGACCCAAAGGGGTATCTCCAAATTATCCAAGGCCATGCCAGCCATGTCATTGCGAT
CCAATTGGTTCCTTAAATGAAGTCTGTGTCAAGGATGAGAAACATGCTCGACGAGGTTTGGCACCTGGATCCTGTCATTGCAAAACTGGTTTTGGAGGTG
TGAGCTGTGATCGGTGTGCCAGGGGCTACACTGGCTACCCGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGG
CCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTGYAGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAG
TGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGGYC
GCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTG
GAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGARGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACA
GAACRTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGSACCCATCTGAAGAACATACTA
ATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGTGCTTGCGAATTTGAAGAGAGT
CCTCCTACAAATCACATACAGCTTTGGGATGGATGCCATCTTCAGGTTGAGCTCTGTTAACCTTGAATCCGCTGTCTCCTATCCTACTGATGGAAGCATT
GCAGCAGCTGTAGAAGTGTGTCAGTGCCCACCAGGGTATACTGGCTCCTCTTGTGAATCTTGTTGGCCTAGGCACAGGCGAGTTAACGGCACTATTTTTG
GTGGCATCTGTGAGCCATGTCAGTGCTTTGGTCATGCGGAGTCCTGTGATGACGTCACTGGAGAATGCCTGAACTGTAAGGATCACACAGGTGGCCCATA
TTGTGATAAATGTCTTCCTGGTTTCTATGGCGAGCCTACTAAAGGAACCTCTGAAGACTGTCAACCCTGTGCCTGTCCACTCAATATCCCATCCAATAAC
TTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGRCT
ATTTTGGACAACCCTCTGTACCTGGAGGATCAYGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGG
CTCCTGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCC
TGTCKCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCARACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAAT
GCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGMAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACA
ATRTTGGTGCYAACCTGGAGTCACAGGGAAGAAAYGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCT
CATCTGGGTAATAATTGTGACCCAAAGACTGGGYGATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCC
ACAGCATTACCACTGGTTGTAAGGCTTGTAACTGCAGCACAGTGGGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAA
ATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGARCTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACC
TGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAGRTGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTG
GCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAARCAAAAGGACTGATCCGGAC
GTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACRCGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATT
GTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAAYAATTTGAAGGAAAGAAGTTGATGGCCTATGGGG
GCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCAAGTGATCATTCGAGGTGGGACACCTACTCATGC
TAGAATTATCGTCAGGCATATGGCTGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGAT
CCTCGAGTCCATAGAACTGTGACCYGAGAAGACTTCTTGGATATACTATATGATATTCATTRCATTCTTATCAAAGCTACTTATGGAAATTTCATGCGAC
AAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACTCCTCCAGCTGACTTGATTGAAAAATGTGATTGTCCCCT
GGGCTATTCTGGCCTGTCCTGTGAGGCATGCTTGCCGGGATTTTATCGACTGCGTTCTCAACCAGGTGGCCGCACCCCTGGACCAACCCTGGGCACCTGT
GTTCCATGTCAATGTAATGGACACAGCAGCCTGTGTGACCCTGAAACATCGATATGCCAGAATTGTCAACATCACACTGCTGGTGACTTCTGTGAACGAT
GTGCTCTTGGATACTATGGAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTG
TGTCGCAGAAGGACTTGAYGACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCA
GGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGMACGTGCYGACCTG
GAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCTTCTCGG
TGACTTGGCTCGCCTGGAGCAGATGGTCATGAGCATCAACCTCACTGGTCCGCTGCCTGCGCCATATAAAATGCTGTATGGTCTTGAAAATATGACTCAG
GAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACMGAAATGAACGAGCTGC
TGACSAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGA
GCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACTYGAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTT
CAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAATTGCTGAAGATGAGTTGGTAGCTGCAGAAGCCCTTC
TGAAAAAAGTGAAGAAGCTGTTTGGAGAGTCCCGGGGGGAAAATGAAGAAATGGAGAAGGATCTCCGGGAAAAACTGGCTGACTACAAAAACAAAGTTGA
TGATGCTTGGGACCTTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAG
AAGGAGGCTGTTGARAGCGGCAAACGACAAATTGAGAACACTTTAAAAGARGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACT
CCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTGAGGAGCTTAATGATAAAATAGATGACCTCTCCCAAGAAATAAAGGACAG
GAAGCTTGCTGAGAAGGTGTCCCAGGCTGAGAGCCACGCAGCTCAGTTGAATGACTCATCTGCTGTCCTTGATGGAATCCTTGATGAGGCTAAAAACATC
TCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAARCCAAAGATCTTGCACATG
AAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCTTAACGAAGCCAAGAAGTT
AGCAAATGATGTAAAAGAAAATGAAGACCATCTAAATGGCTTAAAAACCAGGATAGAAAATGCTGATGCTAGAAATGGGGATCTCTTGAGAACTTTGAAT
GACACTTTGGGAAAGTTATCAGCTATTCCAAATGATACAGCTGCTAAACTGCAAGCTGTTAAGGACAAAGCCAGACAAGCCAACGACACAGCTAAAGATG
TACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAACRAATGCTGTGGTTAA
AGATCCTTCCAAGAACATTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGATAAACTCAAACCCATCAAGGAACTT
GAGGATAACCTAAAGAAAAACATCTCTGAGATAAAGGAATTGATAAACCAAGCTCGGAAACAAGCCAATTCTATCAAAGTATCTGTGTCTTCAGGAGGTG
ACTGCATTCGAACATACAAACCAGAAATCAAGAAAGGAAGTTACAATAATATTGTTGTCAACGTAAAGACAGCTGTTGCTGATAACCTCCTCTTTTATCT
TGGAAGTGCCAAATTTATTGACTTTCTGGCTATAGAAATGCGTAAAGGCAAAGTCAGCTTCCTCTGGGATGTTGGATCTGGAGTTGGACGTGTAGAGTAC
CCAGATTTGACTATTGATGACTCATATTGGTACCGTATCGTAGCATCAAGAACTGGGAGAAATGGAACTATTTCTGTGAGAGCCCTGGATGGACCCAAAG
CCAGCATTGTGCCCAGCACACACCATTCGACGTCTCCTCCAGGGTACACGATTCTAGATGTGGATGCAAATGCAATGCTGTTTGTTGGTGGCCTGACTGG
GAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTGRAATTTCCGA
GAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCC
GTCCCATTCGCTGGTAMCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGAG
AGATTTCATGAGTGTGGAGCTCACTGATGGGCACATAAAAGTCAGTTACGATCTGGGCTCAGGAATGGCTTCCGTTGTCAGCAATCAAAACCATAATGAT
GGGAAATGGAAATCATTCACTCTGTCAAGAATTCAAAAACAAGCCAATATATCAATTGTAGATATAGATACTAATCAGGAGGAGAATATAGCAACTTCGT
CTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAGWAACTTGAGGCCAGAAGTAAATCTGAA
GAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGTCCCGATTATGTTGGTGTTACCAAAGGATGTTCCCTG
GAGAATGTTTACACAGTTAGCTTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAATCAACCTGTCATTCAGCACCA
AGAATGAGTCCGGCATCATTCYTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATGYAATACTCCT
CAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTSATCAGACCAGAGCCRAATCTGTTTCATGATGGAAGAGAA
CATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTRCAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAG
TTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAAYATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAA
CTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGWCGCTGTGCCCATCAGAAACTCCGTGAAGATGAAGATGGAGCAGCT
CCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGCCCACCCCAGTTCTGACACATGGTCCTTGTGCTGCAGAATCAGAAC
CAGCTCTTTTGATAGGGAGCAAGCAGTTCGGGCTTTCAAGAAACAGTCACATTGCAATTGCATTTGATGACACCAAAGTTAAAAACCGTCTCACAATTGA
GTTGGAAGTAAGAACCGAAGCTGAATCCGGCTTGCTTTTTTACATGGCTCGCATCAATCATGCTGATTTTGCAACAGTTCAGCTGAGAAATGGATTGCCC
TACTTCAGCTATGACTTGGGGAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGATTAAGATAATGAGAAGTAAGC
AAGAAGGAATTCTTTATGTAGATGGGGCTTCCAACAGAACCATCAGTCCCAAAAAAGCCGACATCCTGGATGTCGTGGGAATGCTGTATGTTGGTGGGTT
ACCCATCAACTACACTACCCGAAGAATTGGTCCAGTGACCTATAGCATTGATGGCTGCGTCAGGAATCTCCACATGGCAGAGGCCCCTGCCGATCTGGAA
CAACCCACCTCCAGCTTCCATGTTGGGACATGTTTTGCAAATGCTCAGAGGGGAACATATTTTGACGGAACCGGTTTTGCCAAAGCAGTTGGTGGATTCA
AAGTGGGATTGGACCTTCTTGTAGAATTTGAATTCCGCACAACTACAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTAT
TGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGCRGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGA
CAATGGCATAAAGTCRCTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTYGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACAT
CAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCGTTCYGAGGTTGCATCAGATC
CCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTGTATCATGCCCAGCCAACTAA
TAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACMAACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGT
GCATGTACATAGAATTCYTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAATATTAAA
CTGATTATTTCATTCT

Protein Sequence    (SEQ ID NO:1107):
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPIT
NAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICT
SFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRP
KGVSPNYPRPCQPCHCDPIGSLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKENVEGGDCSRC
KSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRL
SSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHTGGPYCDKCLPGFYGEPTKGT
SEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYTGPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCA
HGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNY
PRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFEAREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLT
RHEIEMTEKEWKYYGDDPRVHRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYR
LRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTG
PLPAPYKMLYGLENMTQELKHLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGEFIKELARDAEAVNEKAIKLN
ETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQL
NDSSAVLDGILDEAKNISFNATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNEAKKLANDVKENEDHLNGLKT
RIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDKARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNIADADATVKNL
EQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKPEIKKGSYNNIVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKG
KVSFLWDVGSGVGRVEYPDLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLFVGGLTGKLKKADAVRVITFTGC
MGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGTIQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKVSY
DLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGLDLKADDKIYFGGLPTLRNLRPEVNLKKYSGCLKDIEISRTPY
NILSSPDYVGVTKGCSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQTGQAYYAILLNRGRLEVHLSTGARTM
RKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVDENRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPVSFKNAD
IGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPALLIGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMA
RINHADFATVQLRNGLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKADILDVVGMLYVGGLPINYTTRRIGPVTYSI
DGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQRGTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFHVDNGAG
RFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADTNDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKGTGKPLEVNFA
KALELRGVQPVSCPAN


SNP Information

Context             (SEQ ID NO:7314):
GCCTGACTGGGAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTG
R
AATTTCCGAGAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCAT
Celera SNP ID:            hCV27338958
SNP Position Transcript:  6991
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2314, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:7315):
ATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGG
Y
GATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCCACAGCATTACCACTGGTTGTAAGGCTTGTAACTG
Celera SNP ID:            hCV27338976
SNP Position Transcript:  3134
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1029, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7316):
AAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAAT
R
TTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCAT
Celera SNP ID:            hCV27338977
SNP Position Transcript:  3003
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 985, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7317):
TCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGCTCACAGT
Y
GATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGC
Celera SNP ID:            hCV25958066
SNP Position Transcript:  9154
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 3035, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:7318):
TTCAGCACCAAGAATGAGTCCGGCATCATTCTTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATG
Y
AATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGAT
Celera SNP ID:            hCV1819516
SNP Position Transcript:  7791
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,6|T,26)   total(C,24|T,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2581, (A,GCA)   (V,GTA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2581, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:7319):
AAAGTTGATGTTTCATGTGGACAATGGTGCGGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTC
R
CTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTCGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGA
Celera SNP ID:            hCV25957515
SNP Position Transcript:  9116
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,14|G,6)   total(A,41|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 3023, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:7320):
CAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGC
R
GGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGC
Celera SNP ID:            hCV16187372
SNP Position Transcript:  9046
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2999, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7321):
AACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGT
S
ATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAA
Celera SNP ID:            hCV1819517
SNP Position Transcript:  7861
SNP Source:               Applera
Population(Allele,Count): african american(C,18|G,20)   caucasian(C,28|G,6)   total(C,46|G,26)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2604, (V,GTC)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,6)      total(G,6|C,2) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2604, (V,GTC)   (V,GTG)      



Context             (SEQ ID NO:7322):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGA
Y
GCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACAT
Celera SNP ID:            hCV27862904
SNP Position Transcript:  51
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:7323):
ATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAAT
A
TTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442590
SNP Position Transcript:  9595
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None   



Context             (SEQ ID NO:7324):
CACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAA
Y
AATTTGAAGGAAAGAAGTTGATGGCCTATGGGGGCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCA
Celera SNP ID:            hCV27862905
SNP Position Transcript:  3767
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1240, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7325):
AATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAA
T
ATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442591
SNP Position Transcript:  9594
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None   



Context             (SEQ ID NO:7326):
GACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCC
R
AATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACC
Celera SNP ID:            hCV16047086
SNP Position Transcript:  7876
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,17)   caucasian(A,5|G,29)   total(A,24|G,46)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2609, (P,CCA)   (P,CCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2609, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:7327):
TAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATA
A
TATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442592
SNP Position Transcript:  9593
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None   



Context             (SEQ ID NO:7328):
GAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACCCGAGAAGACTTCTTGGATATACTATATGATATTCATT
R
CATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACT
Celera SNP ID:            hCV25962971
SNP Position Transcript:  4062
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1338, (Y,TAC)   (C,TGC)   



Context             (SEQ ID NO:7329):
GGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAAATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGA
R
CTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGG
Celera SNP ID:            hCV25965750
SNP Position Transcript:  3345
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,32)   total(A,57|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1099, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:7330):
CCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACAAACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTC
Y
TTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAATATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV7424552
SNP Position Transcript:  9518
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,15)   caucasian(C,10|T,24)   total(C,13|T,39)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   A(T,0|C,84)   B(T,0|C,84)   C(T,0|C,84)   total(C,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None   



Context             (SEQ ID NO:7331):
GAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAA
Y
ATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGTCGCT
Celera SNP ID:            hCV25965737
SNP Position Transcript:  8059
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2670, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,36)   total(C,2|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2670, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:7332):
TGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTG
S
ACCCATCTGAAGAACATACTAATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGT
Celera SNP ID:            hCV25970251
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,2)   caucasian(C,40)   total(C,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 644, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7333):
CTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTG
M
AACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCC
Celera SNP ID:            hCV8922729
SNP Position Transcript:  2950
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 967, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7334):
GGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAA
Y
GTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGGCG
Celera SNP ID:            hCV27536724
SNP Position Transcript:  3035
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 996, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7335):
GAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTGTGTCGCAGAAGGACTTGA
Y
GACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCAGGCAACCCTGGAGGCTCCT
Celera SNP ID:            hCV25961619
SNP Position Transcript:  4519
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1490, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:7336):
ATCAGGAGGAGAATATAGCAACTTCGTCTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAG
W
AACTTGAGGCCAGAAGTAAATCTGAAGAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGTCCCGATTATG
Celera SNP ID:            hCV25966971
SNP Position Transcript:  7474
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2475, (R,AGA)   (S,AGT)   



Context             (SEQ ID NO:7337):
CGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGGCCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTG
Y
AGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCT
Celera SNP ID:            hCV16193186
SNP Position Transcript:  1540
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 497, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:7338):
GCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTCTTAT
Y
ACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCT
Celera SNP ID:            hCV25995485
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,35|T,3)   total(C,65|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 52, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 52, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:7339):
CACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACT
Y
GAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTTCAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAAT
Celera SNP ID:            hCV7420811
SNP Position Transcript:  5165
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1706, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7340):
GGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTT
R
CAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATT
Celera SNP ID:            hCV16047108
SNP Position Transcript:  7937
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,34|G,2)   total(A,67|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2630, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2630, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7341):
GCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTA
M
CCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGAGAGATTTCATGAGTGTGG
Celera SNP ID:            hCV7423323
SNP Position Transcript:  7117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2356, (X,TAA)   (Y,TAC)      



Context             (SEQ ID NO:7342):
TCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTCGCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCA
R
ACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCT
Celera SNP ID:            hCV11692024
SNP Position Transcript:  2848
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36|G,4)   total(A,60|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 933, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,5)      total(G,1|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 933, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:7343):
TGATGAGGCTAAAAACATCTCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAA
R
CCAAAGATCTTGCACATGAAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCT
Celera SNP ID:            hCV27497312
SNP Position Transcript:  5882
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1945, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:7344):
TGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTG
R
CAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCA
Celera SNP ID:            hCV27536874
SNP Position Transcript:  547
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 166, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:7345):
TGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
Y
GAGAAGACTTCTTGGATATACTATATGATATTCATTACATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAAT
Celera SNP ID:            hCV27338969
SNP Position Transcript:  4025
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1326, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7346):
TTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGA
R
AGCGGCAAACGACAAATTGAGAACACTTTAAAAGAGGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATG
Celera SNP ID:            hCV25995105
SNP Position Transcript:  5515
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,7)   caucasian(A,16|G,18)   total(A,23|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1822, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,713|G,754)   total(G,754|A,713) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1822, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7347):
TGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGGCTATTTTGGACAACCCTCTGTACCTGGAGGATCA
Y
GTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGGCTCCTGTCTGATATGTAAACCAGGTACAACAGG
Celera SNP ID:            hCV27973215
SNP Position Transcript:  2633
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 862, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7348):
ACACAGCTAAAGATGTACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAAC
R
AATGCTGTGGTTAAAGATCCTTCCAAGAACATTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGATAAACTCAAAC
Celera SNP ID:            hCV16187380
SNP Position Transcript:  6286
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,24)   caucasian(A,5|G,33)   total(A,9|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2079, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,275|G,1206)   total(G,1206|A,275) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2079, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:7349):
ACCAGAGACACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTAC
M
CTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATG
Celera SNP ID:            hCV26000198
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,11)   caucasian(A,38|C,2)   total(A,55|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 127, (T,ACA)   (T,ACC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 127, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:7350):
GATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGA
R
GACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAG
Celera SNP ID:            hCV25990670
SNP Position Transcript:  1847
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,39)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 600, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7351):
AGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGG
Y
CGCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACT
Celera SNP ID:            hCV8922802
SNP Position Transcript:  1699
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 550, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:7352):
GACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
Y
AACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAA
Celera SNP ID:            hCV8922730
SNP Position Transcript:  3011
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 988, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7353):
CTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAG
M
CACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACACTGGATT
Celera SNP ID:            hCV26000397
SNP Position Transcript:  337
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,8)   caucasian(A,40)   total(A,60|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 96, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:7354):
TGGAACTGAGGGGCGTTCAACCTGTATCATGCCCAGCCAACTAATAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAAC
M
AACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGA
Celera SNP ID:            hCV7424544
SNP Position Transcript:  9457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1107, None   



Context             (SEQ ID NO:7355):
ATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGAAAGCGGCAAACGACAAATTGAGAACACTTTAAAAGA
R
GGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTG
Celera SNP ID:            hCV25995180
SNP Position Transcript:  5551
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,13)   caucasian(A,19|G,19)   total(A,32|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1834, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,735|A,756)   total(G,735|A,756) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1834, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7356):
ATACTGGCAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG
M
ACGTGCCGACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTG
Celera SNP ID:            hCV8922738
SNP Position Transcript:  4687
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1546, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7357):
ACACCCCTTAGAAAATGGAGAGATTCACATCTCTTTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGC
Y
ATATTCGCCTGAGATTTCAGAGGATCCGCACACTGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAG
Celera SNP ID:            hCV27483076
SNP Position Transcript:  767
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 240, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:7358):
TTGAAAATATGACTCAGGAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGAC
M
GAAATGAACGAGCTGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGG
Celera SNP ID:            hCV25962157
SNP Position Transcript:  4984
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1645, (T,ACA)   (T,ACC)   



Context             (SEQ ID NO:7359):
TCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAG
R
TGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCAC
Celera SNP ID:            hCV16195136
SNP Position Transcript:  3461
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,26)   caucasian(A,4|G,34)   total(A,8|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1138, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,237|G,1250)   total(G,1250|A,237) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1138, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7360):
GAAATATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGG
W
CGCTGTGCCCATCAGAAACTCCGTGAAGATGAAGATGGAGCAGCTCCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGC
Celera SNP ID:            hCV25971606
SNP Position Transcript:  8155
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,29)   caucasian(T,28)   total(A,3|T,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2702, (G,GGA)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,23)   caucasian(T,36)   total(A,3|T,59)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 2702, (G,GGA)   (G,GGT)   



Context             (SEQ ID NO:7361):
TAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGAC
S
AGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTG
Celera SNP ID:            hCV25962195
SNP Position Transcript:  5005
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,35|G,3)   total(C,67|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1107, 1652, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:7362):
TGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTC
K
CTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCAAACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAG
Celera SNP ID:            hCV25968656
SNP Position Transcript:  2805
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,6)   caucasian(G,40)   total(G,66|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 919, (R,CGC)   (L,CTC)   



Context             (SEQ ID NO:7363):
TACTACCCAGTGCTCTGAAGCAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCAC
R
CGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCC
Celera SNP ID:            hCV25957876
SNP Position Transcript:  3662
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,40)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1205, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:7364):
GCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGAGGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAAC
R
TGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGCACCCATCTGAAGAACATACTAATGTA
Celera SNP ID:            hCV25990513
SNP Position Transcript:  1905
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,3|G,37)   total(A,15|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 619, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 619, (H,CAT)   (R,CGT)      619, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:7365):
AACTTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAG
R
CTATTTTGGACAACCCTCTGTACCTGGAGGATCATGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCT
Celera SNP ID:            hCV25965330
SNP Position Transcript:  2598
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 850, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:7366):
AAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCGTTC
Y
GAGGTTGCATCAGATCCCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTGTATC
Celera SNP ID:            hCV27338954
SNP Position Transcript:  9284
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 3079, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7367):
CAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGCACGTGC
Y
GACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCT
Celera SNP ID:            hCV27528012
SNP Position Transcript:  4694
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1549, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7368):
CTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAA
R
CAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACACGACCACCAAGGGCATTGT
Celera SNP ID:            hCV25968588
SNP Position Transcript:  3581
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 1178, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:7369):
TTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAATCAACCTGTCATTCAGCACCAAGAATGAGTCCGGCATCATTC
Y
TTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTG
Celera SNP ID:            hCV27338957
SNP Position Transcript:  7722
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1107, 2558, (P,CCT)   (L,CTT)      



Gene Number:                 157
Celera Gene:                 hCG21784 - 104000117760833
Celera Transcript:           hCT2331361 - 104000117760834
Public Transcript Accession: NM_000426
Celera Protein:              hCP1876285 - 197000069409549
Public Protein Accession:    NP_000417
Gene Symbol:                 LAMA2
Protein Name:                laminin, alpha 2 (merosin, congenital muscular dystrophy);LAMM
Celera Genomic Axis:         GA_x54KRFTF0F9(41134210..41767389)
Chromosome:                  Chr6
OMIM number:                 156225
OMIM Information:            LAMININ, ALPHA-2;LAMA2


Transcript Sequence (SEQ ID NO:411):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGAYGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTC
GGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTC
TTATYACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCG
AATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGMCACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAAT
GGAATCGAATACCATTATGTGACAATTACMCTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAA
ACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTGRCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCC
CCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGATTCACATCTCT
TTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGCYATATTCGCCTGAGATTTCAGAGGATCCGCACAC
TGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAGATATTACTACTCGGTCAAGGATATTTCAGTTGG
AGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATAAATCTCGCTGTGAGTGTGAGCATAACACATGTGGCGATAGC
TGTGATCAGTGCTGTCCAGGATTCCATCAGAAACCCTGGAGAGCTGGAACTTTTCTAACTAAAACTGAATGTGAAGCATGCAATTGTCATGGAAAAGCTG
AAGAATGCTATTATGATGAAAATGTTGCCAGAAGAAATCTGAGTTTGAATATACGTGGAAAGTACATTGGAGGGGGTGTCTGCATTAATTGTACCCAAAA
CACTGCTGGTATAAACTGCGAGACATGTACTGATGGCTTCTTCAGACCCAAAGGGGTATCTCCAAATTATCCAAGGCCATGCCAGCCATGTCATTGCGAT
CCAATTGGTTCCTTAAATGAAGTCTGTGTCAAGGATGAGAAACATGCTCGACGAGGTTTGGCACCTGGATCCTGTCATTGCAAAACTGGTTTTGGAGGTG
TGAGCTGTGATCGGTGTGCCAGGGGCTACACTGGCTACCCGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGG
CCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTGYAGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAG
TGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGGYC
GCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTG
GAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGARGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACA
GAACRTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGSACCCATCTGAAGAACATACTA
ATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGTGCTTGCGAATTTGAAGAGAGT
CCTCCTACAAATCACATACAGCTTTGGGATGGATGCCATCTTCAGGTTGAGCTCTGTTAACCTTGAATCCGCTGTCTCCTATCCTACTGATGGAAGCATT
GCAGCAGCTGTAGAAGTGTGTCAGTGCCCACCAGGGTATACTGGCTCCTCTTGTGAATCTTGTTGGCCTAGGCACAGGCGAGTTAACGGCACTATTTTTG
GTGGCATCTGTGAGCCATGTCAGTGCTTTGGTCATGCGGAGTCCTGTGATGACGTCACTGGAGAATGCCTGAACTGTAAGGATCACACAGGTGGCCCATA
TTGTGATAAATGTCTTCCTGGTTTCTATGGCGAGCCTACTAAAGGAACCTCTGAAGACTGTCAACCCTGTGCCTGTCCACTCAATATCCCATCCAATAAC
TTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGRCT
ATTTTGGACAACCCTCTGTACCTGGAGGATCAYGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGG
CTCCTGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCC
TGTCKCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCARACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAAT
GCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGMAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACA
ATRTTGGTGCYAACCTGGAGTCACAGGGAAGAAAYGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCT
CATCTGGGTAATAATTGTGACCCAAAGACTGGGYGATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCC
ACAGCATTACCACTGGTTGTAAGGCTTGTAACTGCAGCACAGTGGGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAA
ATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGARCTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACC
TGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAGRTGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTG
GCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAARCAAAAGGACTGATCCGGAC
GTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACRCGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATT
GTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAAYAATTTGAAGGAAAGAAGTTGATGGCCTATGGGG
GCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCAAGTGATCATTCGAGGTGGGACACCTACTCATGC
TAGAATTATCGTCAGGCATATGGCTGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGAT
CCTCGAGTCCATAGAACTGTGACCYGAGAAGACTTCTTGGATATACTATATGATATTCATTRCATTCTTATCAAAGCTACTTATGGAAATTTCATGCGAC
AAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACTCCTCCAGCTGACTTGATTGAAAAATGTGATTGTCCCCT
GGGCTATTCTGGCCTGTCCTGTGAGGCATGCTTGCCGGGATTTTATCGACTGCGTTCTCAACCAGGTGGCCGCACCCCTGGACCAACCCTGGGCACCTGT
GTTCCATGTCAATGTAATGGACACAGCAGCCTGTGTGACCCTGAAACATCGATATGCCAGAATTGTCAACATCACACTGCTGGTGACTTCTGTGAACGAT
GTGCTCTTGGATACTATGGAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTG
TGTCGCAGAAGGACTTGAYGACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCA
GGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGMACGTGCYGACCTG
GAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCTTCTCGG
TGACTTGGCTCGCCTGGAGCAGATGGTCATGAGCATCAACCTCACTGGTCCGCTGCCTGCGCCATATAAAATGCTGTATGGTCTTGAAAATATGACTCAG
GAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACMGAAATGAACGAGCTGC
TGACSAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGA
GCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACTYGAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTT
CAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAATTGCTGAAGATGAGTTGGTAGCTGCAGAAGCCCTTC
TGAAAAAAGTGAAGAAGCTGTTTGGAGAGTCCCGGGGGGAAAATGAAGAAATGGAGAAGGATCTCCGGGAAAAACTGGCTGACTACAAAAACAAAGTTGA
TGATGCTTGGGACCTTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAG
AAGGAGGCTGTTGARAGCGGCAAACGACAAATTGAGAACACTTTAAAAGARGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACT
CCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTGAGGAGCTTAATGATAAAATAGATGACCTCTCCCAAGAAATAAAGGACAG
GAAGCTTGCTGAGAAGGTGTCCCAGGCTGAGAGCCACGCAGCTCAGTTGAATGACTCATCTGCTGTCCTTGATGGAATCCTTGATGAGGCTAAAAACATC
TCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAARCCAAAGATCTTGCACATG
AAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCTTAACGAAGCCAAGAAGTT
AGCAAATGATGTAAAAGAAAATGAAGACCATCTAAATGGCTTAAAAACCAGGATAGAAAATGCTGATGCTAGAAATGGGGATCTCTTGAGAACTTTGAAT
GACACTTTGGGAAAGTTATCAGCTATTCCAAATGATACAGCTGCTAAACTGCAAGCTGTTAAGGACAAAGCCAGACAAGCCAACGACACAGCTAAAGATG
TACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAACRAATGCTGTGGTTAA
AGATCCTTCCAAGAACATTCTATGCAGTTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGATAAACTCAAACCCAT
CAAGGAACTTGAGGATAACCTAAAGAAAAACATCTCTGAGATAAAGGAATTGATAAACCAAGCTCGGAAACAAGCCAATTCTATCAAAGTATCTGTGTCT
TCAGGAGGTGACTGCATTCGAACATACAAACCAGAAATCAAGAAAGGAAGTTACAATAATATTGTTGTCAACGTAAAGACAGCTGTTGCTGATAACCTCC
TCTTTTATCTTGGAAGTGCCAAATTTATTGACTTTCTGGCTATAGAAATGCGTAAAGGCAAAGTCAGCTTCCTCTGGGATGTTGGATCTGGAGTTGGACG
TGTAGAGTACCCAGATTTGACTATTGATGACTCATATTGGTACCGTATCGTAGCATCAAGAACTGGGAGAAATGGAACTATTTCTGTGAGAGCCCTGGAT
GGACCCAAAGCCAGCATTGTGCCCAGCACACACCATTCGACGTCTCCTCCAGGGTACACGATTCTAGATGTGGATGCAAATGCAATGCTGTTTGTTGGTG
GCCTGACTGGGAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTG
RAATTTCCGAGAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCA
TTGGTCAGCCGTCCCATTCGCTGGTAMCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACAC
GAGACCTGAGAGATTTCATGAGTGTGGAGCTCACTGATGGGCACATAAAAGTCAGTTACGATCTGGGCTCAGGAATGGCTTCCGTTGTCAGCAATCAAAA
CCATAATGATGGGAAATGGAAATCATTCACTCTGTCAAGAATTCAAAAACAAGCCAATATATCAATTGTAGATATAGATACTAATCAGGAGGAGAATATA
GCAACTTCGTCTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAGWAACTTGAGTATTCAAT
AGGCCAGAAGTAAATCTGAAGAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGTCCCGATTATGTTGGTG
TTACCAAAGGATGTTCCCTGGAGAATGTTTACACAGTTAGCTTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAAT
CAACCTGTCATTCAGCACCAAGAATGAGTCCGGCATCATTCYTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAG
GCCTATTATGYAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTSATCAGACCAGAGCCRAATC
TGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTRCAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGAC
AGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAAYATTCCTCCTTTTGAAGGCTGC
ATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGWCGCTGTGCCCATCAGAAACTCCGTG
AAGATGAAGATGGAGCAGCTCCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGCCCACCCCAGTTCTGACACATGGTCC
TTGTGCTGCAGAATCAGAACCAGCTCTTTTGATAGGGAGCAAGCAGTTCGGGCTTTCAAGAAACAGTCACATTGCAATTGCATTTGATGACACCAAAGTT
AAAAACCGTCTCACAATTGAGTTGGAAGTAAGAACCGAAGCTGAATCCGGCTTGCTTTTTTACATGGCTCGCATCAATCATGCTGATTTTGCAACAGTTC
AGCTGAGAAATGGATTGCCCTACTTCAGCTATGACTTGGGGAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGAT
TAAGATAATGAGAAGTAAGCAAGAAGGAATTCTTTATGTAGATGGGGCTTCCAACAGAACCATCAGTCCCAAAAAAGCCGACATCCTGGATGTCGTGGGA
ATGCTGTATGTTGGTGGGTTACCCATCAACTACACTACCCGAAGAATTGGTCCAGTGACCTATAGCATTGATGGCTGCGTCAGGAATCTCCACATGGCAG
AGGCCCCTGCCGATCTGGAACAACCCACCTCCAGCTTCCATGTTGGGACATGTTTTGCAAATGCTCAGAGGGGAACATATTTTGACGGAACCGGTTTTGC
CAAAGCAGTTGGTGGATTCAAAGTGGGATTGGACCTTCTTGTAGAATTTGAATTCCGCACAACTACAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAA
AAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGCRGGCAGATTCACTGCTGTCTATGATGCTGGGGTTC
CAGGGCATTTGTGTGATGGACAATGGCATAAAGTCRCTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTYGATGGGAACCAGGTGGAAGCCCAAAG
CCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCG
TTCYGAGGTTGCATCAGATCCCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTG
TATCATGCCCAGCCAACTAATAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACMAACAAATATATTTTACCTATATA
TGTTAATTAAACTAATTTGTGCATGTACATAGAATTCYTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCA
AGTCTATAAATAATATTAAACTGATTATTTCATTCT

Protein Sequence    (SEQ ID NO:1108):
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPIT
NAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICT
SFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRP
KGVSPNYPRPCQPCHCDPIGSLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKENVEGGDCSRC
KSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRL
SSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHTGGPYCDKCLPGFYGEPTKGT
SEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYTGPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCA
HGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNY
PRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFEAREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLT
RHEIEMTEKEWKYYGDDPRVHRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYR
LRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTG
PLPAPYKMLYGLENMTQELKHLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGEFIKELARDAEAVNEKAIKLN
ETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQL
NDSSAVLDGILDEAKNISFNATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNEAKKLANDVKENEDHLNGLKT
RIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDKARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNILCSCRCRCHC
QKFRTGS


SNP Information

Context             (SEQ ID NO:7370):
GCCTGACTGGGAAATTAAAGAAGGCTGATGCTGTACGTGTGATTACATTCACTGGCTGCATGGGAGAAACATACTTTGACAACAAACCTATAGGTTTGTG
R
AATTTCCGAGAAAAAGAAGGTGACTGCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCAT
Celera SNP ID:            hCV27338958
SNP Position Transcript:  7001
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7371):
ATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGG
Y
GATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTCTAAATGTGCACCCAATACCTGGGGCCACAGCATTACCACTGGTTGTAAGGCTTGTAACTG
Celera SNP ID:            hCV27338976
SNP Position Transcript:  3134
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1029, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7372):
AAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAAT
R
TTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCAT
Celera SNP ID:            hCV27338977
SNP Position Transcript:  3003
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 985, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7373):
TTCAGCACCAAGAATGAGTCCGGCATCATTCTTTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATG
Y
AATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGAT
Celera SNP ID:            hCV1819516
SNP Position Transcript:  7811
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,6|T,26)   total(C,24|T,42)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7374):
TCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGCTCACAGT
Y
GATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGC
Celera SNP ID:            hCV25958066
SNP Position Transcript:  9174
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24)   total(C,59|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None



Context             (SEQ ID NO:7375):
AAAGTTGATGTTTCATGTGGACAATGGTGCGGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTC
R
CTGCCAACAAGATCAAACACCGCATTGAGCTCACAGTCGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGA
Celera SNP ID:            hCV25957515
SNP Position Transcript:  9136
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,14|G,6)   total(A,41|G,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None



Context             (SEQ ID NO:7376):
CAACGACTGGAGTTCTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGTTGATGTTTCATGTGGACAATGGTGC
R
GGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTGTGATGGACAATGGCATAAAGTCACTGCCAACAAGATCAAACACCGCATTGAGC
Celera SNP ID:            hCV16187372
SNP Position Transcript:  9066
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7377):
AACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGT
S
ATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAA
Celera SNP ID:            hCV1819517
SNP Position Transcript:  7881
SNP Source:               Applera
Population(Allele,Count): african american(C,18|G,20)   caucasian(C,28|G,6)   total(C,46|G,26)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|G,6)      total(G,6|C,2) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7378):
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGA
Y
GCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACAT
Celera SNP ID:            hCV27862904
SNP Position Transcript:  51
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:7379):
ATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAAT
A
TTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442590
SNP Position Transcript:  9615
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7380):
CACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCCAGAA
Y
AATTTGAAGGAAAGAAGTTGATGGCCTATGGGGGCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCA
Celera SNP ID:            hCV27862905
SNP Position Transcript:  3767
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1240, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7381):
AATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAA
T
ATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442591
SNP Position Transcript:  9614
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7382):
GACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCC
R
AATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTTACAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACC
Celera SNP ID:            hCV16047086
SNP Position Transcript:  7896
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,17)   caucasian(A,5|G,29)   total(A,24|G,46)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7383):
TAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATA
A
TATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV27442592
SNP Position Transcript:  9613
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|A,7)   total(A,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7384):
GAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACCCGAGAAGACTTCTTGGATATACTATATGATATTCATT
R
CATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAATGGAGGTAGCTGAACAAGGACGTGGAACAACAATGACT
Celera SNP ID:            hCV25962971
SNP Position Transcript:  4062
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1338, (Y,TAC)   (C,TGC)   



Context             (SEQ ID NO:7385):
GGATCCTTGGATTTCCAATGCAATGTAAATACAGGCCAATGCAACTGTCATCCAAAATTCTCTGGTGCAAAATGTACAGAGTGCAGTCGAGGTCACTGGA
R
CTACCCTCGCTGCAATCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGG
Celera SNP ID:            hCV25965750
SNP Position Transcript:  3345
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,1)   caucasian(A,32)   total(A,57|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1099, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:7386):
CCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAACAAACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTC
Y
TTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGAATTTTAATTCAAGTTCTTTCTCAAGTCTATAAATAATATTAAACTGATTATTTCATTCT
Celera SNP ID:            hCV7424552
SNP Position Transcript:  9538
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,15)   caucasian(C,10|T,24)   total(C,13|T,39)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   A(T,0|C,84)   B(T,0|C,84)   C(T,0|C,84)   total(C,252)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7387):
TGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTG
S
ACCCATCTGAAGAACATACTAATGTATTGTTACTTAAAGAAGAATCATTTACCATACATGGCACACATTTTCCAGTCCGTAGAAAGGAATTTATGACAGT
Celera SNP ID:            hCV25970251
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,2)   caucasian(C,40)   total(C,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 644, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:7388):
GAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATTTCAACCTTCCCCACTCAGAAA
Y
ATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGGTCGCT
Celera SNP ID:            hCV25965737
SNP Position Transcript:  8079
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,40)   total(C,2|T,76)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(T,36)   total(C,2|T,68)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None



Context             (SEQ ID NO:7389):
CTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTG
M
AACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCC
Celera SNP ID:            hCV8922729
SNP Position Transcript:  2950
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 967, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7390):
GGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAA
Y
GTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAATAATTGTGACCCAAAGACTGGGCG
Celera SNP ID:            hCV27536724
SNP Position Transcript:  3035
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 996, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7391):
GAATTGTCAAGGGATTGCCAAATGACTGTCAGCAATGTGCCTGCCCTCTGATTTCTTCCAGTAACAATTTCAGCCCCTCTTGTGTCGCAGAAGGACTTGA
Y
GACTACCGCTGCACGGCTTGTCCACGGGGATATGAAGGCCAGTACTGTGAAAGGTGTGCCCCTGGCTATACTGGCAGTCCAGGCAACCCTGGAGGCTCCT
Celera SNP ID:            hCV25961619
SNP Position Transcript:  4519
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1490, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:7392):
ATCAGGAGGAGAATATAGCAACTTCGTCTTCTGGAAACAACTTTGGTCTTGACTTGAAAGCAGATGACAAAATATATTTTGGTGGCCTGCCAACGCTGAG
W
AACTTGAGTATTCAATAGGCCAGAAGTAAATCTGAAGAAATATTCCGGCTGCCTCAAAGATATTGAAATTTCAAGAACTCCGTACAATATACTCAGTAGT
Celera SNP ID:            hCV25966971
SNP Position Transcript:  7484
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None



Context             (SEQ ID NO:7393):
CGGACTGCAAAGCCTGTAACTGCAGTGGGTTAGGGAGCAAAAATGAGGATCCTTGTTTTGGCCCCTGTATCTGCAAGGAAAATGTTGAAGGAGGAGACTG
Y
AGTCGTTGCAAATCCGGCTTCTTCAATTTGCAAGAGGATAATTGGAAAGGCTGCGATGAGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCT
Celera SNP ID:            hCV16193186
SNP Position Transcript:  1540
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 497, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:7394):
GCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTCTTAT
Y
ACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCT
Celera SNP ID:            hCV25995485
SNP Position Transcript:  205
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,35|T,3)   total(C,65|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 52, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 52, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:7395):
CACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTGCCCGGGATGCAGAAGCTGTAAATGAAAAAGCTATAAAACTAAATGAAACTCTAGGAACT
Y
GAGACGAGGCCTTTGAGAGAAATTTGGAAGGGCTTCAGAAAGAGATTGACCAGATGATTAAAGAACTGAGGAGGAAAAATCTAGAGACACAAAAGGAAAT
Celera SNP ID:            hCV7420811
SNP Position Transcript:  5165
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1706, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7396):
GGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCAAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGCATCTTT
R
CAGTTCAAGTGGATGAAAACAGAAGATACATGCAAAACCTGACAGTTGAACAGCCTATCGAAGTTAAAAAGCTTTTCGTTGGGGGTGCTCCACCTGAATT
Celera SNP ID:            hCV16047108
SNP Position Transcript:  7957
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,34|G,2)   total(A,67|G,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7397):
GCAAAGGATGCACTGTCAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTA
M
CCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGAGAGATTTCATGAGTGTGG
Celera SNP ID:            hCV7423323
SNP Position Transcript:  7127
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7398):
TCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTCGCTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCA
R
ACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGCTGGGACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCT
Celera SNP ID:            hCV11692024
SNP Position Transcript:  2848
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,10)   caucasian(A,36|G,4)   total(A,60|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 933, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,5)      total(G,1|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 933, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:7399):
TGATGAGGCTAAAAACATCTCCTTCAATGCCACTGCAGCCTTCAAAGCTTACAGCAATATTAAGGACTATATTGATGAAGCTGAGAAAGTTGCCAAAGAA
R
CCAAAGATCTTGCACATGAAGCTACAAAACTGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCT
Celera SNP ID:            hCV27497312
SNP Position Transcript:  5882
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1945, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:7400):
TGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTG
R
CAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCA
Celera SNP ID:            hCV27536874
SNP Position Transcript:  547
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 166, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:7401):
TTTTGAGAGAAGCCACAGATAAAATCAGAGAAGCTAATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGA
R
AGCGGCAAACGACAAATTGAGAACACTTTAAAAGAGGGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATG
Celera SNP ID:            hCV25995105
SNP Position Transcript:  5515
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,7)   caucasian(A,16|G,18)   total(A,23|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1822, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,713|G,754)   total(G,754|A,713) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1822, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7402):
TGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAGAAAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
Y
GAGAAGACTTCTTGGATATACTATATGATATTCATTACATTCTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGATTTCTGAAATCTCAAT
Celera SNP ID:            hCV27338969
SNP Position Transcript:  4025
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1326, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7403):
TGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAGGCTATTTTGGACAACCCTCTGTACCTGGAGGATCA
Y
GTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCTGGCTCCTGTCTGATATGTAAACCAGGTACAACAGG
Celera SNP ID:            hCV27973215
SNP Position Transcript:  2633
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 862, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:7404):
ACACAGCTAAAGATGTACTGGCACAGATTACAGAGCTCCACCAGAACCTCGATGGCCTGAAGAAGAATTACAATAAACTAGCAGACAGCGTCGCCAAAAC
R
AATGCTGTGGTTAAAGATCCTTCCAAGAACATTCTATGCAGTTGCCGATGCAGATGCCACTGTCAAAAATTTAGAACAGGAAGCTGACCGGCTAATAGAT
Celera SNP ID:            hCV16187380
SNP Position Transcript:  6286
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,24)   caucasian(A,5|G,33)   total(A,9|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 2079, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,275|G,1206)   total(G,1206|A,275) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 2079, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:7405):
GATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGA
R
GACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAG
Celera SNP ID:            hCV25990670
SNP Position Transcript:  1847
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,39)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 600, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:7406):
ACCAGAGACACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTAC
M
CTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATG
Celera SNP ID:            hCV26000198
SNP Position Transcript:  430
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,11)   caucasian(A,38|C,2)   total(A,55|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 127, (T,ACA)   (T,ACC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 127, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:7407):
AGTGTTTCTGTTCAGGGGTTTCAAACAGATGTCAGAGTTCCTACTGGACCTATGGCAAAATACAAGATATGAGTGGCTGGTATCTGACTGACCTTCCTGG
Y
CGCATTCGAGTGGCTCCCCAGCAGGACGACTTGGACTCACCTCAGCAGATCAGCATCAGTAACGCGGAGGCCCGGCAAGCCCTGCCGCACAGCTACTACT
Celera SNP ID:            hCV8922802
SNP Position Transcript:  1699
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 550, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:7408):
GACCTTTGGCCTACAATCAGCAAGGGGCTGTGTTCCCTGCAACTGCAATTCTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
Y
AACCTGGAGTCACAGGGAAGAAATGTGACCGCTGTGCCCACGGCTATTTCAACTTCCAAGAAGGAGGCTGCACAGCTTGTGAATGTTCTCATCTGGGTAA
Celera SNP ID:            hCV8922730
SNP Position Transcript:  3011
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 988, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:7409):
CTGAAATGTACTGCAAATTGGTAGAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAG
M
CACCCGATTACAAATGCTATTGATGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACACTGGATT
Celera SNP ID:            hCV26000397
SNP Position Transcript:  337
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,8)   caucasian(A,40)   total(A,60|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 96, (R,AGA)   (S,AGC)   



Context             (SEQ ID NO:7410):
TGGAACTGAGGGGCGTTCAACCTGTATCATGCCCAGCCAACTAATAAAAATAAGTGTAACCCCAGGAAGAGTCTGTCAAAACAAGTATATCAAGTAAAAC
M
AACAAATATATTTTACCTATATATGTTAATTAAACTAATTTGTGCATGTACATAGAATTCTTTCTGTATTCAGATGGTGCTAATTCAGACTCCAGACTGA
Celera SNP ID:            hCV7424544
SNP Position Transcript:  9477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7411):
ATCGCCTATTTGCAGTAAATCAGAAAAACATGACTGCATTGGAGAAAAAGAAGGAGGCTGTTGAAAGCGGCAAACGACAAATTGAGAACACTTTAAAAGA
R
GGCAATGACATACTCGATGAAGCCAACCGTCTTGCAGATGAAATCAACTCCATCATAGACTATGTTGAAGACATCCAAACTAAATTGCCACCTATGTCTG
Celera SNP ID:            hCV25995180
SNP Position Transcript:  5551
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,13)   caucasian(A,19|G,19)   total(A,32|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1834, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,735|A,756)   total(G,735|A,756) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1834, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7412):
ATACTGGCAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG
M
ACGTGCCGACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTG
Celera SNP ID:            hCV8922738
SNP Position Transcript:  4687
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1546, (X,TGA)   (C,TGC)      



Context             (SEQ ID NO:7413):
ACACCCCTTAGAAAATGGAGAGATTCACATCTCTTTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGC
Y
ATATTCGCCTGAGATTTCAGAGGATCCGCACACTGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAG
Celera SNP ID:            hCV27483076
SNP Position Transcript:  767
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 240, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:7414):
TTGAAAATATGACTCAGGAGCTAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGAC
M
GAAATGAACGAGCTGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGG
Celera SNP ID:            hCV25962157
SNP Position Transcript:  4984
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1645, (T,ACA)   (T,ACC)   



Context             (SEQ ID NO:7415):
TCTCTGTGACTGCTTCCTCCCTGGGACAGATGCCACAACCTGTGATTCAGAGACTAAAAAATGCTCCTGTAGTGATCAAACTGGGCAGTGCACTTGTAAG
R
TGAATGTGGAAGGCATCCACTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCAC
Celera SNP ID:            hCV16195136
SNP Position Transcript:  3461
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,26)   caucasian(A,4|G,34)   total(A,8|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1138, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,237|G,1250)   total(G,1250|A,237) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1138, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7416):
GAAATATTCCTCCTTTTGAAGGCTGCATATGGAATCTTGTTATTAACTCTGTCCCCATGGACTTTGCAAGGCCTGTGTCCTTCAAAAATGCTGACATTGG
W
CGCTGTGCCCATCAGAAACTCCGTGAAGATGAAGATGGAGCAGCTCCAGCTGAAATAGTTATCCAGCCTGAGCCAGTTCCCACCCCAGCCTTTCCTACGC
Celera SNP ID:            hCV25971606
SNP Position Transcript:  8175
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,29)   caucasian(T,28)   total(A,3|T,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None

SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,23)   caucasian(T,36)   total(A,3|T,59)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None



Context             (SEQ ID NO:7417):
TGTCTGATATGTAAACCAGGTACAACAGGCCGGTACTGTGAGCTCTGTGCTGATGGATATTTTGGAGATGCAGTTGATGCGAAGAACTGTCAGCCCTGTC
K
CTGTAATGCCGGTGGCTCTTTCTCTGAGGTTTGCCACAGTCAAACTGGACAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAG
Celera SNP ID:            hCV25968656
SNP Position Transcript:  2805
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,6)   caucasian(G,40)   total(G,66|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 919, (R,CGC)   (L,CTC)   



Context             (SEQ ID NO:7418):
TAAAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGAC
S
AGGGCTACCAAAGTGACAGCAGATGGCGAGCAGACCGGACAGGATGCTGAGAGGACCAACACAAGAGCAAAGTCCCTGGGAGAATTCATTAAGGAGCTTG
Celera SNP ID:            hCV25962195
SNP Position Transcript:  5005
SNP Source:               Applera
Population(Allele,Count): african american(C,32|G,6)   caucasian(C,35|G,3)   total(C,67|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1108, 1652, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:7419):
AACTTTAGCCCAACGTGCCATTTAGACCGGAGTCTTGGATTGATCTGTGATGGATGCCCTGTCGGGTACACAGGACCACGCTGTGAGAGGTGTGCAGAAG
R
CTATTTTGGACAACCCTCTGTACCTGGAGGATCATGTCAGCCATGCCAATGCAATGACAACCTTGACTTCTCCATCCCTGGCAGCTGTGACAGCTTGTCT
Celera SNP ID:            hCV25965330
SNP Position Transcript:  2598
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 850, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:7420):
GCGCCGGCTCCCTATCTGGGAAACAAACTCCCAGCAGTAGGAGGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAAC
R
TGTTCTCCAGCTTATGATTATCTTAGAGGGTAATGACTTGAGCATCAGCACAGCCCAAGATGAGGTGTACCTGCACCCATCTGAAGAACATACTAATGTA
Celera SNP ID:            hCV25990513
SNP Position Transcript:  1905
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,3|G,37)   total(A,15|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 619, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 619, (H,CAT)   (R,CGT)      619, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:7421):
TACTACCCAGTGCTCTGAAGCAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCAC
R
CGACCACCAAGGGCATTGTTTTTCAACATCCAGAGATTGTTGCCCACATGGACCTGATGAGAGAAGATCTCCATTTGGAACCTTTTTATTGGAAACTTCC
Celera SNP ID:            hCV25957876
SNP Position Transcript:  3662
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,40)   total(A,73|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1205, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:7422):
AAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGATGACCTCAAGCAGTTTGGCCTAACAACCAGTATTCCGTTC
Y
GAGGTTGCATCAGATCCCTGAAGCTCACCAAAGGCACAGGCAAGCCACTGGAGGTTAATTTTGCCAAGGCCCTGGAACTGAGGGGCGTTCAACCTGTATC
Celera SNP ID:            hCV27338954
SNP Position Transcript:  9304
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Context             (SEQ ID NO:7423):
CAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGCACGTGC
Y
GACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTTTTTGTGGAGATGAGTGCACTGGCCTTCT
Celera SNP ID:            hCV27528012
SNP Position Transcript:  4694
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1549, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7424):
CTGTGACAGATGCCGGCCTGGCAAATTCGGACTCGATGCCAAGAATCCACTTGGCTGCAGCAGCTGCTATTGCTTCGGCACTACTACCCAGTGCTCTGAA
R
CAAAAGGACTGATCCGGACGTGGGTGACTCTGAAGGCTGAGCAGACCATTCTACCCCTGGTAGATGAGGCTCTGCAGCACACGACCACCAAGGGCATTGT
Celera SNP ID:            hCV25968588
SNP Position Transcript:  3581
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1108, 1178, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:7425):
TTTCCTAAGCCTGGTTTTGTGGAGCTCTCCCCTGTGCCAATTGATGTAGGAACAGAAATCAACCTGTCATTCAGCACCAAGAATGAGTCCGGCATCATTC
Y
TTTGGGAAGTGGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTG
Celera SNP ID:            hCV27338957
SNP Position Transcript:  7742
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1108, None   



Gene Number:                 158
Celera Gene:                 hCG21793 - 114000133414534
Celera Transcript:           hCT2288730 - 114000133414635
Public Transcript Accession: NM_000208
Celera Protein:              hCP1801019 - 197000064933660
Public Protein Accession:    NP_000199
Gene Symbol:                 INSR
Protein Name:                insulin receptor
Celera Genomic Axis:         GA_x5YUV32VWJV(1464897..1618399)
Chromosome:                  Chr19
OMIM number:                 147670
OMIM Information:            INSULIN RECEPTOR;INSR


Transcript Sequence (SEQ ID NO:412):
CATTTAGCTTTCCTTGCCCCATTTCTGACCGCGGGCACCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATGTTGACGCACTGGAGACAGTTCCCC
TTTCTCCTTCTGCACCTGCCGCGTTACTCAATCCCCTGTAATCCCATTGTCCCGACTGCATCATTTCAGAGGTGGTGATTTTAAGGATTTTAACAGGGCT
TGCCAAAAGAATTATTTTCTTGGCGTTTTGAAAGTAATTACTTAGGCATGGGTACTTTACAGAGAAAGCTACTCATCCCGGCTGGCTGCAGAGTTTACAG
GGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCYGATGCATCCACCGTGCGTCTGCTCACYTGTCTT
GCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGYCATCGAARGAC
ACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGRTTACYTGCYGCTCTTCCG
GGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAYSACTGTTCTTTAACTACGYGCTGGTCATCTTCGAGATG
GTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATSGAGWAGAACAATKAGCTCTGTTACTTGGCCACTATCG
ACTRGTCCCGTATCCTGGATTCCKTGGAGGATAATYACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGG
CAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCA
CACGGCTGCACCGCCGAAGGCCTCTGTTGCCRCAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCT
ACCYGGAYGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTRTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAA
ATGCAAGAACTCGCGGAGGCAGGGCTRCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAAC
TTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTYGGTGACGTCTGCCCAGGAGCTCCGAG
GATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTC
ARGGTATCTAAAAATCCGCYGATCCTACGCTCTGGTGTCACTTTCCTTCKTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTAC
TCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTSGGACTGGAGCAAACACAACCTCACCAYCACTCAGGGGAAACTCTTCTTCCACTATAACC
CCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCARTGGGGACCA
GGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGA
GACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGAYGGGCAGGATGCRTGTGGTTCCAACAGTTGGACGGTGG
TAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTT
TGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCC
CTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTYTGAAGTGGAAACCMCCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCT
GGGAGAGGCAGGCRGAAGACAGTGAGCTGTTYGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGA
AGATTCTCAGAAGCACAACYAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAG
TCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAGAAAAACCTCTTCAGGCACTGGTGCCGAGGACCCTAGGCCATCTC
GGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACRAGTCC
GGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGYGACACTTCACRGGCTATCGCATCGAGCTGCAGGCTTGC
AACCAGGACACCCYTGAGGAACGGTGCAGTGTGGCAGCYTACGTCAGTGCSAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGC
ATGAAATCTTTGAGAACAAYGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATYGTGCTGTATGAAGTGAGTTATCGGCGATATGG
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCYCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGYGAAYC
YGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATCG
GCCCCCTCATCTTTGTCTTTCTCTTCAGTGTTGTGATTGGAAGTATTTATCTATTCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGC
TTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTAYRTGCCGGACGAGTGGGAGGTGTCTCRAGAGAAGWTCACCCTCCTT
YGAGAGCTGGGGCAGGGCTCCTTCGKCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGYGGTGAAGACGGTCA
ACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCAYGTGGTGCGCCTCCTGGGAGTGGT
GTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGYGGCCAGAGGCTGAGAATAATCCT
GGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGAYTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATYRGGACC
TGRCAGMGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATRACCAGAGACATCTATGAAACGGATTACTACCRGAAAGG
GGGCAAGGGTCTGCTCCCTGTAYRGTGGATGGCACYGRASTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTKGTCCTTTGGCGTGGTCCTT
TSGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACA
ACTGTCCAGAGAGAGTCACTGACCTCATGCGCATGTGCTGGCAATTCAACCCCAAGATGAGGCCAACCTTCCTGGAGATTGTCAACCTGCTCAAGGACGA
CCTGCACCCCAGCTTTCCAGAGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAAT
GTGCCCCTGGACCGTTCCTCWCTCCTTCCTTCTTATTGACTGGGAGACTGTGSTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTAC
CCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATGAATCTTTTCAAGACCAAACCAAGCTAGGACATTAAAAAAAAAAAAAA
GAAAAAGAAAGAAAAAACAAAATGGAAAAAGGAAAAAAAAAAAGAACTGAGATGACAGAGTTTTGAGAATATATTTGTACCATATTTAATTTTTAAAGTC
TCTGGTATTAGCCTCATAAGTTATTGACTATTCCCCGGGGTTGGCGGGGAGTGGGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAG
TCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAATKAAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTG
GAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGCTGGAAGGTTCCTGTTCGGATAAGCTGGTAGCTACCTAGCTCTGAGC
CTGCCTTCAAGAACACCTGTGTTCATCCTCTGATTCTCTGTGTGTACCTCTTGTGGCGTTTCCTCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAA
ACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAATRTAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCC
CTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGTGACCTCATCTGGGCCAGGTGTGGTGCCTGAGCTGAA
TGCTCAGGTGCTTACAGTGTTGCAATCCCTAAGAGAGTAGAGTCTGGAGGAGAAACCGTGAAAAAGACCTTACACACCACCAAGAACTTCCGAATGGGCG
TGAATCCACCGTTTCTTCTCTTTGCAAAAAGAACCACCACAGCTGCTCAAAGAACACAGTGAACTCATCACTTTGGTTCATCAAAAAATCATCGCCCATG
CGTTATTCCTGAGTGCATTTTCTTACAACTTTTTGACTGCTTCCTTTTCTTCTTCTCTTAAGAGTTGTGGGCTTAAGAATGGGATAGAGTCATAATGGCA
ACCTCCAAGCCCTCTCAATTCTTGATTAAGAACACAGGTAGACATGAATCCCAATTGTCTATTGCTATCTTATTTATATGATTCGGGAAAATACAGCATG
TAAAAATATTGCTGAGGAGCCTCAGTGATTGGGTACAASAAGCAAGAGTACAGAAATTATTTTTGCCAAATTTATTTTGTAAATATGAGGGTCTGTACCT
AAATTTAAAAAAAAAAACACGTAGAACTAGGTATTTTGTTCTCTTCTTAGTAAATTTGTAGTGGTTGTATACTACACTAGCTGCAATTTTCACATTTTTC
TAATTCAGAAAGGTTTTTCTTATATTAGGGGAAAAAGTATTTATTTTAATATATAAAATCACTCTGAAAATCACTCTC

Protein Sequence    (SEQ ID NO:1109):
MGTLQRKLLIPAGCRVYRARDENTGPRFPVHEAGSAPDPSDASTVRLLTCLAFCSFSLVVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFR
DLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVL
NKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYH
FQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGG
NNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSG
TKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQN
HPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYC
LKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNVTVAV
PTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEP
KEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYYVPSNIAKIIIGPLIFVFLFSVVIGSI
YLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEA
SVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKI
GDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQF
NPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSLLPSY


SNP Information

Context             (SEQ ID NO:7426):
GGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTT
S
GGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC
Celera SNP ID:            hCV27862810
SNP Position Transcript:  4002
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1252, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7427):
ATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTG
Y
GAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTAT
Celera SNP ID:            hCV2421101
SNP Position Transcript:  3095
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 950, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7428):
CCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTAC
R
TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACAT
Celera SNP ID:            hCV2421103
SNP Position Transcript:  3356
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,7|G,752)      total(G,752|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1037, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7429):
ACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACC
M
CCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGC
Celera SNP ID:            hCV25473660
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,11)   caucasian(A,32|C,2)   total(A,57|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 670, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,7)      total(A,7|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 670, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7430):
TTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTT
Y
GAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAA
Celera SNP ID:            hCV2421105
SNP Position Transcript:  3401
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1052, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7431):
GCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCG
K
CATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGG
Celera SNP ID:            hCV2421106
SNP Position Transcript:  3426
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1060, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:7432):
TGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCG
R
AGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGG
Celera SNP ID:            hCV27541130
SNP Position Transcript:  3938
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1231, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7433):
CTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCT
S
GGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTT
Celera SNP ID:            hCV2428512
SNP Position Transcript:  1641
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 465, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7434):
TGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTAC
Y
TGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGT
Celera SNP ID:            hCV25599911
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 114, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7435):
TCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGA
S
TCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCC
Celera SNP ID:            hCV11968458
SNP Position Transcript:  3940
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1231, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:7436):
CAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTC
K
TCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAG
Celera SNP ID:            hCV2428513
SNP Position Transcript:  1550
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 435, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:7437):
TCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACT
Y
GGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCC
Celera SNP ID:            hCV2428516
SNP Position Transcript:  1374
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 376, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7438):
AGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGC
R
TGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCA
Celera SNP ID:            hCV11970553
SNP Position Transcript:  1975
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,13|G,27)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 576, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 576, (A,GCG)   (A,GCA)      576, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7439):
GGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACC
Y
GGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGC
Celera SNP ID:            hCV2428518
SNP Position Transcript:  1104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 286, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7440):
GGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCC
R
CAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCG
Celera SNP ID:            hCV2428519
SNP Position Transcript:  1032
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 262, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7441):
TGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATT
Y
TGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTA
Celera SNP ID:            hCV11970557
SNP Position Transcript:  2243
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,34|T,2)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 666, (L,CTG)   (L,TTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 666, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:7442):
CAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGC
R
GAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGC
Celera SNP ID:            hCV25599952
SNP Position Transcript:  2314
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 689, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7443):
CCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTT
Y
GAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATG
Celera SNP ID:            hCV11970558
SNP Position Transcript:  2332
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 695, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 695, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:7444):
AGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGC
Y
TACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGC
Celera SNP ID:            hCV8356138
SNP Position Transcript:  2839
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 864, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7445):
AGCTACTCATCCCGGCTGGCTGCAGAGTTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTC
Y
GATGCATCCACCGTGCGTCTGCTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGC
Celera SNP ID:            hCV27838042
SNP Position Transcript:  367
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 40, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:7446):
AAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGG
Y
GGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCACGTGGTGCGC
Celera SNP ID:            hCV27530823
SNP Position Transcript:  3486
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1080, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7447):
GGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAAT
K
AAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGC
Celera SNP ID:            hCV27470056
SNP Position Transcript:  4754
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1109, None   



Context             (SEQ ID NO:7448):
AAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAC
S
ACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATC
Celera SNP ID:            hCV27528585
SNP Position Transcript:  663
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 139, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:7449):
CATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCAC
R
AGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGG
Celera SNP ID:            hCV25599887
SNP Position Transcript:  2695
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 816, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7450):
TGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGA
Y
GGGCAGGATGCATGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGA
Celera SNP ID:            hCV25473347
SNP Position Transcript:  1963
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,32|T,8)   total(C,50|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 572, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 572, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7451):
GACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCT
R
TGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCT
Celera SNP ID:            hCV27536137
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 306, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7452):
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATC
R
GGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGG
Celera SNP ID:            hCV2421111
SNP Position Transcript:  3795
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1183, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7453):
CCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG
R
CAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGG
Celera SNP ID:            hCV2421112
SNP Position Transcript:  3803
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1186, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7454):
AGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTC
W
CTCCTTCCTTCTTATTGACTGGGAGACTGTGCTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCC
Celera SNP ID:            hCV11968426
SNP Position Transcript:  4321
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 1358, (S,TCA)   (S,TCT)      



Context             (SEQ ID NO:7455):
TTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCTGATGCATCCACCGTGCGTCTGCTCAC
Y
TGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCG
Celera SNP ID:            hCV27475974
SNP Position Transcript:  394
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,348|C,1143)   total(C,1143|T,348) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 49, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7456):
GCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTAC
R
GTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAA
Celera SNP ID:            hCV2421117
SNP Position Transcript:  3924
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1226, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7457):
CGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA
Y
GGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGA
Celera SNP ID:            hCV27529421
SNP Position Transcript:  3923
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1226, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7458):
GATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACG
Y
GCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTC
Celera SNP ID:            hCV27860073
SNP Position Transcript:  681
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 145, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7459):
TCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT
R
TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGT
Celera SNP ID:            hCV2931133
SNP Position Transcript:  5064
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(A,-|G,-)   JBIC-allele(A,391|G,1100)   total(G,1100|A,391) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1109, None   



Context             (SEQ ID NO:7460):
CTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAAT
K
AGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGA
Celera SNP ID:            hCV27860074
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 177, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:7461):
GGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAA
Y
CCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATC
Celera SNP ID:            hCV27860075
SNP Position Transcript:  3099
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 951, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7462):
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATC
Y
GGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATCGG
Celera SNP ID:            hCV27860076
SNP Position Transcript:  3101
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 952, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7463):
GACCTGAAGAGCTACCTCCGTTCTCTGCGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGA
Y
TGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGA
Celera SNP ID:            hCV27860077
SNP Position Transcript:  3750
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1168, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:7464):
TAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCAT
Y
GGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCG
Celera SNP ID:            hCV27860078
SNP Position Transcript:  3794
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1183, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7465):
TGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTG
R
TTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCG
Celera SNP ID:            hCV27536861
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 112, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7466):
AACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAA
Y
GTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCT
Celera SNP ID:            hCV15831539
SNP Position Transcript:  2920
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38|T,2)   total(C,71|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 891, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 891, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:7467):
CCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCC
Y
TGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAG
Celera SNP ID:            hCV16085001
SNP Position Transcript:  2814
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 856, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:7468):
ATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCA
Y
CACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGA
Celera SNP ID:            hCV8356183
SNP Position Transcript:  1668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 474, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7469):
GCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGA
Y
GGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGA
Celera SNP ID:            hCV8356184
SNP Position Transcript:  1108
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;Caucasian(T,9|C,73)   no_pop(T,-|C,-)   Asians(T,4|C,78)   total(C,151|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 287, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7470):
ATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGC
Y
GCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATC
Celera SNP ID:            hCV27529211
SNP Position Transcript:  591
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 115, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7471):
TCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAA
R
GACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTT
Celera SNP ID:            hCV27540672
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 84, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7472):
GAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGC
Y
GATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAA
Celera SNP ID:            hCV27540673
SNP Position Transcript:  1520
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 425, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7473):
ACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAG
W
TCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGT
Celera SNP ID:            hCV27529140
SNP Position Transcript:  3389
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1048, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:7474):
CGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACC
R
GAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTG
Celera SNP ID:            hCV27540674
SNP Position Transcript:  3894
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1216, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7475):
ACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCAC
Y
GGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAA
Celera SNP ID:            hCV27540675
SNP Position Transcript:  3936
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1230, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7476):
CAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAAC
Y
AGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTT
Celera SNP ID:            hCV11968437
SNP Position Transcript:  2420
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 725, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7477):
TAGACATGAATCCCAATTGTCTATTGCTATCTTATTTATATGATTCGGGAAAATACAGCATGTAAAAATATTGCTGAGGAGCCTCAGTGATTGGGTACAA
S
AAGCAAGAGTACAGAAATTATTTTTGCCAAATTTATTTTGTAAATATGAGGGTCTGTACCTAAATTTAAAAAAAAAAACACGTAGAACTAGGTATTTTGT
Celera SNP ID:            hCV8356111
SNP Position Transcript:  5639
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1109, None   



Context             (SEQ ID NO:7478):
CAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCA
Y
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
Celera SNP ID:            hCV27531312
SNP Position Transcript:  662
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 139, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7479):
TTTCCCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTG
Y
GACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCC
Celera SNP ID:            hCV27536723
SNP Position Transcript:  2762
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 839, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7480):
GCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG
S
TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATG
Celera SNP ID:            hCV8356118
SNP Position Transcript:  4353
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1109, None   



Context             (SEQ ID NO:7481):
CTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCC
K
TGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGT
Celera SNP ID:            hCV27540245
SNP Position Transcript:  824
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 193, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7482):
GAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAAT
Y
ACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCA
Celera SNP ID:            hCV8352014
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 197, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:7483):
TGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCT
R
CCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCC
Celera SNP ID:            hCV27862805
SNP Position Transcript:  1227
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 327, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7484):
CACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCA
R
TGGGGACCAGGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCC
Celera SNP ID:            hCV27862806
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 515, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:7485):
CGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTG
Y
GGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGC
Celera SNP ID:            hCV27862807
SNP Position Transcript:  3677
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1144, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7486):
TGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAAT
R
ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCA
Celera SNP ID:            hCV27862808
SNP Position Transcript:  3862
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1205, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:7487):
CCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTC
R
AGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGC
Celera SNP ID:            hCV11968441
SNP Position Transcript:  3381
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1045, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7488):
CTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCAC
R
GGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGG
Celera SNP ID:            hCV16172280
SNP Position Transcript:  2773
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 842, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7489):
ACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGT
K
GTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGG
Celera SNP ID:            hCV27862809
SNP Position Transcript:  3981
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1245, (W,TGG)   (L,TTG)      



Context             (SEQ ID NO:7490):
TCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGC
S
AGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGG
Celera SNP ID:            hCV16172281
SNP Position Transcript:  2851
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 868, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:7491):
CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGAT
Y
GTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTG
Celera SNP ID:            hCV16172285
SNP Position Transcript:  2968
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 907, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:7492):
AGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGC
Y
CTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCA
Celera SNP ID:            hCV16172286
SNP Position Transcript:  3043
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 932, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7493):
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
S
GAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACG
Celera SNP ID:            hCV2421316
SNP Position Transcript:  763
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 172, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:7494):
CACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACT
R
GTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAG
Celera SNP ID:            hCV2421318
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 186, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:7495):
CCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA
Y
GTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGC
Celera SNP ID:            hCV8356128
SNP Position Transcript:  3577
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,30|T,6)   total(C,51|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 1110, (H,CAC)   (H,CAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,136|C,623)      total(C,623|T,136) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 1110, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7496):
CTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTG
Y
CATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTG
Celera SNP ID:            hCV27531256
SNP Position Transcript:  489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 81, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:7497):
TCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTA
Y
GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACA
Celera SNP ID:            hCV8356129
SNP Position Transcript:  3355
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,45|C,714)      total(C,714|T,45) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1109, 1036, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7498):
ATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCA
R
GGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTC
Celera SNP ID:            hCV27531257
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 419, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7499):
GTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAG
W
AGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGA
Celera SNP ID:            hCV27540722
SNP Position Transcript:  767
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 174, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:7500):
CCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAG
M
GAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAG
Celera SNP ID:            hCV27540723
SNP Position Transcript:  3807
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1109, 1187, (E,GAG)   (A,GCG)      



Gene Number:                 158
Celera Gene:                 hCG21793 - 114000133414534
Celera Transcript:           hCT12886 - 114000133414535
Public Transcript Accession: NM_000208
Celera Protein:              hCP39644 - 197000064933656
Public Protein Accession:    NP_000199
Gene Symbol:                 INSR
Protein Name:                insulin receptor
Celera Genomic Axis:         GA_x5YUV32VWJV(1464897..1617960)
Chromosome:                  Chr19
OMIM number:                 147670
OMIM Information:            INSULIN RECEPTOR;INSR


Transcript Sequence (SEQ ID NO:413):
CATTTAGCTTTCCTTGCCCCATTTCTGACCGCGGGCACCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATGTTGACGCACTGGAGACAGTTCCCC
TTTCTCCTTCTGCACCTGCCGCGTTACTCAATCCCCTGTAATCCCATTGTCCCGACTGCATCATTTCAGAGGTGGTGATTTTAAGGATTTTAACAGGGCT
TGCCAAAAGAATTATTTTCTTGGCGTTTTGAAAGTAATTACTTAGGCATGGGTACTTTACAGAGAAAGCTACTCATCCCGGCTGGCTGCAGAGTTTACAG
GGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCYGATGCATCCACCGTGCGTCTGCTCACYTGTCTT
GCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGYCATCGAARGAC
ACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGRTTACYTGCYGCTCTTCCG
GGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAYSACTGTTCTTTAACTACGYGCTGGTCATCTTCGAGATG
GTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATSGAGWAGAACAATKAGCTCTGTTACTTGGCCACTATCG
ACTRGTCCCGTATCCTGGATTCCKTGGAGGATAATYACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGG
CAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCA
CACGGCTGCACCGCCGAAGGCCTCTGTTGCCRCAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCT
ACCYGGAYGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTRTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAA
ATGCAAGAACTCGCGGAGGCAGGGCTRCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAAC
TTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTYGGTGACGTCTGCCCAGGAGCTCCGAG
GATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTC
ARGGTATCTAAAAATCCGCYGATCCTACGCTCTGGTGTCACTTTCCTTCKTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTAC
TCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTSGGACTGGAGCAAACACAACCTCACCAYCACTCAGGGGAAACTCTTCTTCCACTATAACC
CCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCARTGGGGACCA
GGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGA
GACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGAYGGGCAGGATGCRTGTGGTTCCAACAGTTGGACGGTGG
TAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTT
TGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCC
CTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTYTGAAGTGGAAACCMCCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCT
GGGAGAGGCAGGCRGAAGACAGTGAGCTGTTYGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGA
AGATTCTCAGAAGCACAACYAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAG
TCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAGAAAAACCTCTTCAGGCACTGGTGCCGAGGACCCTAGGCCATCTC
GGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACRAGTCC
GGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGYGACACTTCACRGGCTATCGCATCGAGCTGCAGGCTTGC
AACCAGGACACCCYTGAGGAACGGTGCAGTGTGGCAGCYTACGTCAGTGCSAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGC
ATGAAATCTTTGAGAACAAYGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATYGTGCTGTATGAAGTGAGTTATCGGCGATATGG
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCYCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGYGAAYC
YGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCA
TCGGCCCCCTCATCTTTGTCTTTCTCTTCAGTGTTGTGATTGGAAGTATTTATCTATTCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTA
CGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTAYRTGCCGGACGAGTGGGAGGTGTCTCRAGAGAAGWTCACCCTC
CTTYGAGAGCTGGGGCAGGGCTCCTTCGKCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGYGGTGAAGACGG
TCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCAYGTGGTGCGCCTCCTGGGAGT
GGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGYGGCCAGAGGCTGAGAATAAT
CCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGAYTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATYRGG
ACCTGRCAGMGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATRACCAGAGACATCTATGAAACGGATTACTACCRGAA
AGGGGGCAAGGGTCTGCTCCCTGTAYRGTGGATGGCACYGRASTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTKGTCCTTTGGCGTGGTC
CTTTSGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCG
ACAACTGTCCAGAGAGAGTCACTGACCTCATGCGCATGTGCTGGCAATTCAACCCCAAGATGAGGCCAACCTTCCTGGAGATTGTCAACCTGCTCAAGGA
CGACCTGCACCCCAGCTTTCCAGAGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAG
AATGTGCCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACA
TCCCTTRCACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCRGTCCAATCCTTCCTAACAGTGCCTACCGTGGYGGGGGCGGGC
AGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCARTGGAGTTCAGAGATCGTTCCTA
TACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCAYAG
TTGCTGCTCCTTTGGGGCAACGACGGTTTCAAACCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTTTTT
ACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTGGTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAAKTTCGAAAGAAAAAACA
AAACAAAAACACCCAGCCCTGTTCCAGGAGAATTTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTTTCTCTCATCCAGGCTG
AAGGATTTTTTTTTTCTTTACAAAATGAGTTCCTCAAATTGACCAATAGCTGCTGCTTTCATATTTTGGATAAGGGTCTGTGGTCCCGGCGTGTGCTCAC
GTGTGTATGCACGTGTGTGTGTCCATTAGACACGGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTC
TCAAGGGTGCGAGCTCATCCCCCTCWCTCCTTCCTTCTTATTGACTGGGAGACTGTGSTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTT
TCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATGAATCTTTTCAAGACCAAACCAAGCTAGGACATTAAAAAAAAA
AAAAAGAAAAAGAAAGAAAAAACAAAATGGAAAAAGGAAAAAAAAAAAGAACTGAGATGACAGAGTTTTGAGAATATATTTGTACCATATTTAATTTTTA
AAGTCTCTGGTATTAGCCTCATAAGTTATTGACTATTCCCCGGGGTTGGCGGGGAGTGGGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGA
GGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAATKAAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCC
ACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGCTGGAAGGTTCCTGTTCGGATAAGCTGGTAGCTACCTAGCTC
TGAGCCTGCCTTCAAGAACACCTGTGTTCATCCTCTGATTCTCTGTGTGTACCTCTTGTGGCGTTTCCTCTCCCGGGTGTGAACATCCTAACCGTTATTG
TGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAATRTAAGAGAGAGGTGCACTGAGAGTACGTCTTG
GTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGTGACCTCATCTGGGCCAGGTGTGGTGCCTGAG
CTGAATGCTCAGGTGCTTACAGTGTTGCAATCCCTAAGAGAGTAGAGTCTGGAGGAGAAACCGTGAAAAAGACCTTACACACCACCAAGAACTTCCGAAT
GGGCGTGAATCCACCGTTTCTTCTCTTTGCAAAAAGAACCACCACAGCTGCTCAAAGAACACAGTGAACTCATCACTTTGGTTCATCAAAAAATCATCGC
CCATGCGTTATTCCTGAGTGCATTTTCTTACAACTTTTTGACTG

Protein Sequence    (SEQ ID NO:1110):
MGTLQRKLLIPAGCRVYRARDENTGPRFPVHEAGSAPDPSDASTVRLLTCLAFCSFSLVVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFR
DLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVL
NKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYH
FQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGG
NNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSG
TKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQN
HPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYC
LKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNVTVAV
PTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEP
KEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGS
IYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNE
ASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVK
IGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQ
FNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSHCQREEAGGRDGGSSLGFKRSYEEHIPYTHMNGGKKNGRIL
TLPRSNPS


SNP Information

Context             (SEQ ID NO:7501):
GGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTT
S
GGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC
Celera SNP ID:            hCV27862810
SNP Position Transcript:  4005
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1253, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7502):
ATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTG
Y
GAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAAT
Celera SNP ID:            hCV2421101
SNP Position Transcript:  3095
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 950, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7503):
CCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTAC
R
TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACAT
Celera SNP ID:            hCV2421103
SNP Position Transcript:  3359
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,7|G,752)      total(G,752|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1038, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7504):
ACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACC
M
CCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGC
Celera SNP ID:            hCV25473660
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,11)   caucasian(A,32|C,2)   total(A,57|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 670, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,7)      total(A,7|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 670, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7505):
TTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTT
Y
GAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAA
Celera SNP ID:            hCV2421105
SNP Position Transcript:  3404
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1053, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7506):
GCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCG
K
CATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGG
Celera SNP ID:            hCV2421106
SNP Position Transcript:  3429
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1061, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:7507):
TGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCG
R
AGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGG
Celera SNP ID:            hCV27541130
SNP Position Transcript:  3941
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1232, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7508):
CTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCT
S
GGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTT
Celera SNP ID:            hCV2428512
SNP Position Transcript:  1641
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 465, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7509):
TGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTAC
Y
TGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGT
Celera SNP ID:            hCV25599911
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 114, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7510):
TCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGA
S
TCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCC
Celera SNP ID:            hCV11968458
SNP Position Transcript:  3943
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1232, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:7511):
CAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTC
K
TCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAG
Celera SNP ID:            hCV2428513
SNP Position Transcript:  1550
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 435, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:7512):
TCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACT
Y
GGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCC
Celera SNP ID:            hCV2428516
SNP Position Transcript:  1374
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 376, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7513):
AGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGC
R
TGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCA
Celera SNP ID:            hCV11970553
SNP Position Transcript:  1975
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,13|G,27)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 576, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 576, (A,GCG)   (A,GCA)      576, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7514):
GGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACC
Y
GGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGC
Celera SNP ID:            hCV2428518
SNP Position Transcript:  1104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 286, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7515):
GGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCC
R
CAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCG
Celera SNP ID:            hCV2428519
SNP Position Transcript:  1032
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 262, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7516):
TGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATT
Y
TGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTA
Celera SNP ID:            hCV11970557
SNP Position Transcript:  2243
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,34|T,2)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 666, (L,CTG)   (L,TTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 666, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:7517):
CAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGC
R
GAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGC
Celera SNP ID:            hCV25599952
SNP Position Transcript:  2314
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 689, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7518):
CCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTT
Y
GAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATG
Celera SNP ID:            hCV11970558
SNP Position Transcript:  2332
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 695, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 695, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:7519):
AGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGC
Y
TACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGC
Celera SNP ID:            hCV8356138
SNP Position Transcript:  2839
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 864, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7520):
AGCTACTCATCCCGGCTGGCTGCAGAGTTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTC
Y
GATGCATCCACCGTGCGTCTGCTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGC
Celera SNP ID:            hCV27838042
SNP Position Transcript:  367
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 40, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:7521):
AAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGG
Y
GGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCACGTGGTGCGC
Celera SNP ID:            hCV27530823
SNP Position Transcript:  3489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1081, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7522):
GGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAAT
K
AAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGC
Celera SNP ID:            hCV27470056
SNP Position Transcript:  5659
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7523):
AAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAC
S
ACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATC
Celera SNP ID:            hCV27528585
SNP Position Transcript:  663
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 139, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:7524):
CATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCAC
R
AGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGG
Celera SNP ID:            hCV25599887
SNP Position Transcript:  2695
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 816, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7525):
TGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGA
Y
GGGCAGGATGCATGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGA
Celera SNP ID:            hCV25473347
SNP Position Transcript:  1963
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,32|T,8)   total(C,50|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 572, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 572, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7526):
GACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCT
R
TGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCT
Celera SNP ID:            hCV27536137
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 306, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7527):
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATC
R
GGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGG
Celera SNP ID:            hCV2421111
SNP Position Transcript:  3798
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1184, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7528):
CCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG
R
CAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGG
Celera SNP ID:            hCV2421112
SNP Position Transcript:  3806
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1187, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7529):
TTAGACACGGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTC
W
CTCCTTCCTTCTTATTGACTGGGAGACTGTGCTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCC
Celera SNP ID:            hCV11968426
SNP Position Transcript:  5226
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7530):
TTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCTGATGCATCCACCGTGCGTCTGCTCAC
Y
TGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCG
Celera SNP ID:            hCV27475974
SNP Position Transcript:  394
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,348|C,1143)   total(C,1143|T,348) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 49, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7531):
GCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTAC
R
GTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAA
Celera SNP ID:            hCV2421117
SNP Position Transcript:  3927
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1227, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7532):
CGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA
Y
GGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGA
Celera SNP ID:            hCV27529421
SNP Position Transcript:  3926
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1227, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7533):
CCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTT
R
CACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTT
Celera SNP ID:            hCV27536607
SNP Position Transcript:  4407
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1387, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7534):
GATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACG
Y
GCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTC
Celera SNP ID:            hCV27860073
SNP Position Transcript:  681
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 145, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7535):
TCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT
R
TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGT
Celera SNP ID:            hCV2931133
SNP Position Transcript:  5969
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(A,-|G,-)   JBIC-allele(A,391|G,1100)   total(G,1100|A,391) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7536):
CTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAAT
K
AGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGA
Celera SNP ID:            hCV27860074
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 177, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:7537):
GGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAA
Y
CCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATC
Celera SNP ID:            hCV27860075
SNP Position Transcript:  3099
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 951, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7538):
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATC
Y
GGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCAT
Celera SNP ID:            hCV27860076
SNP Position Transcript:  3101
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 952, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7539):
GACCTGAAGAGCTACCTCCGTTCTCTGCGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGA
Y
TGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGA
Celera SNP ID:            hCV27860077
SNP Position Transcript:  3753
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1169, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:7540):
TAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCAT
Y
GGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCG
Celera SNP ID:            hCV27860078
SNP Position Transcript:  3797
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1184, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7541):
CGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGG
Y
GGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCAATGGAGTTCAGAG
Celera SNP ID:            hCV25599924
SNP Position Transcript:  4490
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None



Context             (SEQ ID NO:7542):
TGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTG
R
TTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCG
Celera SNP ID:            hCV27536861
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 112, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7543):
AACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAA
Y
GTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCT
Celera SNP ID:            hCV15831539
SNP Position Transcript:  2920
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38|T,2)   total(C,71|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 891, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 891, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:7544):
CCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCC
Y
TGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAG
Celera SNP ID:            hCV16085001
SNP Position Transcript:  2814
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 856, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:7545):
ATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCA
Y
CACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGA
Celera SNP ID:            hCV8356183
SNP Position Transcript:  1668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 474, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7546):
GCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGA
Y
GGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGA
Celera SNP ID:            hCV8356184
SNP Position Transcript:  1108
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;Caucasian(T,9|C,73)   no_pop(T,-|C,-)   Asians(T,4|C,78)   total(C,151|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 287, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7547):
ATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGC
Y
GCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATC
Celera SNP ID:            hCV27529211
SNP Position Transcript:  591
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 115, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7548):
TCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAA
R
GACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTT
Celera SNP ID:            hCV27540672
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 84, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7549):
GAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGC
Y
GATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAA
Celera SNP ID:            hCV27540673
SNP Position Transcript:  1520
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 425, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7550):
ACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAG
W
TCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGT
Celera SNP ID:            hCV27529140
SNP Position Transcript:  3392
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1049, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:7551):
CGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACC
R
GAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTG
Celera SNP ID:            hCV27540674
SNP Position Transcript:  3897
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1217, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7552):
ACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCAC
Y
GGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAA
Celera SNP ID:            hCV27540675
SNP Position Transcript:  3939
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1231, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7553):
GGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTC
R
GTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCT
Celera SNP ID:            hCV2421123
SNP Position Transcript:  4458
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1404, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7554):
CAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAAC
Y
AGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTT
Celera SNP ID:            hCV11968437
SNP Position Transcript:  2420
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 725, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7555):
CAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCA
Y
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
Celera SNP ID:            hCV27531312
SNP Position Transcript:  662
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 139, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7556):
TTTCCCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTG
Y
GACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCC
Celera SNP ID:            hCV27536723
SNP Position Transcript:  2762
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 839, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7557):
ATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG
S
TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATG
Celera SNP ID:            hCV8356118
SNP Position Transcript:  5258
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7558):
CTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCC
K
TGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGT
Celera SNP ID:            hCV27540245
SNP Position Transcript:  824
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 193, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7559):
AGAAAGCACCTGTTTTTACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTGGTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAA
K
TTCGAAAGAAAAAACAAAACAAAAACACCCAGCCCTGTTCCAGGAGAATTTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTT
Celera SNP ID:            hCV8356119
SNP Position Transcript:  4884
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7560):
GAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAAT
Y
ACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCA
Celera SNP ID:            hCV8352014
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 197, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:7561):
TGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCT
R
CCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCC
Celera SNP ID:            hCV27862805
SNP Position Transcript:  1227
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 327, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7562):
CACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCA
R
TGGGGACCAGGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCC
Celera SNP ID:            hCV27862806
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 515, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:7563):
CGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTG
Y
GGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGC
Celera SNP ID:            hCV27862807
SNP Position Transcript:  3680
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1145, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7564):
TGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAAT
R
ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCA
Celera SNP ID:            hCV27862808
SNP Position Transcript:  3865
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1206, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:7565):
ACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGT
K
GTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGG
Celera SNP ID:            hCV27862809
SNP Position Transcript:  3984
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1246, (W,TGG)   (L,TTG)      



Context             (SEQ ID NO:7566):
CTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCAC
R
GGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGG
Celera SNP ID:            hCV16172280
SNP Position Transcript:  2773
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 842, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7567):
CCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTC
R
AGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGC
Celera SNP ID:            hCV11968441
SNP Position Transcript:  3384
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1046, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7568):
TCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGC
S
AGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGG
Celera SNP ID:            hCV16172281
SNP Position Transcript:  2851
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 868, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:7569):
CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGAT
Y
GTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTG
Celera SNP ID:            hCV16172285
SNP Position Transcript:  2968
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 907, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:7570):
AGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGC
Y
CTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCA
Celera SNP ID:            hCV16172286
SNP Position Transcript:  3043
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 932, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7571):
TGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCA
R
TGGAGTTCAGAGATCGTTCCTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCT
Celera SNP ID:            hCV8356120
SNP Position Transcript:  4578
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,8|G,32)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7572):
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
S
GAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACG
Celera SNP ID:            hCV2421316
SNP Position Transcript:  763
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 172, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:7573):
CACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACT
R
GTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAG
Celera SNP ID:            hCV2421318
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 186, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:7574):
CCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA
Y
GTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGC
Celera SNP ID:            hCV8356128
SNP Position Transcript:  3580
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,30|T,6)   total(C,51|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 1111, (H,CAC)   (H,CAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,136|C,623)      total(C,623|T,136) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 1111, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7575):
CTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTG
Y
CATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTG
Celera SNP ID:            hCV27531256
SNP Position Transcript:  489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 81, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:7576):
TCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTGTTTCCATGCTCTGTGTA
Y
GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACA
Celera SNP ID:            hCV8356129
SNP Position Transcript:  3358
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,45|C,714)      total(C,714|T,45) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1110, 1037, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7577):
ATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCA
R
GGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTC
Celera SNP ID:            hCV27531257
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 419, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7578):
CTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCA
Y
AGTTGCTGCTCCTTTGGGGCAACGACGGTTTCAAACCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTTT
Celera SNP ID:            hCV15831555
SNP Position Transcript:  4698
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1110, None   



Context             (SEQ ID NO:7579):
GTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAG
W
AGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGA
Celera SNP ID:            hCV27540722
SNP Position Transcript:  767
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 174, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:7580):
CCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAG
M
GAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAG
Celera SNP ID:            hCV27540723
SNP Position Transcript:  3810
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1110, 1188, (E,GAG)   (A,GCG)      



Gene Number:                 158
Celera Gene:                 hCG21793 - 114000133414534
Celera Transcript:           hCT1951742 - 114000133414560
Public Transcript Accession: NM_000208
Celera Protein:              hCP1763919 - 197000064933657
Public Protein Accession:    NP_000199
Gene Symbol:                 INSR
Protein Name:                insulin receptor
Celera Genomic Axis:         GA_x5YUV32VWJV(1464897..1617960)
Chromosome:                  Chr19
OMIM number:                 147670
OMIM Information:            INSULIN RECEPTOR;INSR


Transcript Sequence (SEQ ID NO:414):
CATTTAGCTTTCCTTGCCCCATTTCTGACCGCGGGCACCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATGTTGACGCACTGGAGACAGTTCCCC
TTTCTCCTTCTGCACCTGCCGCGTTACTCAATCCCCTGTAATCCCATTGTCCCGACTGCATCATTTCAGAGGTGGTGATTTTAAGGATTTTAACAGGGCT
TGCCAAAAGAATTATTTTCTTGGCGTTTTGAAAGTAATTACTTAGGCATGGGTACTTTACAGAGAAAGCTACTCATCCCGGCTGGCTGCAGAGTTTACAG
GGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCYGATGCATCCACCGTGCGTCTGCTCACYTGTCTT
GCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGYCATCGAARGAC
ACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGRTTACYTGCYGCTCTTCCG
GGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAYSACTGTTCTTTAACTACGYGCTGGTCATCTTCGAGATG
GTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATSGAGWAGAACAATKAGCTCTGTTACTTGGCCACTATCG
ACTRGTCCCGTATCCTGGATTCCKTGGAGGATAATYACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGG
CAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCA
CACGGCTGCACCGCCGAAGGCCTCTGTTGCCRCAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCT
ACCYGGAYGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTRTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAA
ATGCAAGAACTCGCGGAGGCAGGGCTRCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAAC
TTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTYGGTGACGTCTGCCCAGGAGCTCCGAG
GATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTC
ARGGTATCTAAAAATCCGCYGATCCTACGCTCTGGTGTCACTTTCCTTCKTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTAC
TCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTSGGACTGGAGCAAACACAACCTCACCAYCACTCAGGGGAAACTCTTCTTCCACTATAACC
CCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCARTGGGGACCA
GGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGA
GACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGAYGGGCAGGATGCRTGTGGTTCCAACAGTTGGACGGTGG
TAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTT
TGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCC
CTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTYTGAAGTGGAAACCMCCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCT
GGGAGAGGCAGGCRGAAGACAGTGAGCTGTTYGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGA
AGATTCTCAGAAGCACAACYAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAG
TCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAGAAAAACCTCTTCAGGCACTGGTGCCGAGGACCCTAGGCCATCTC
GGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACRAGTCC
GGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGYGACACTTCACRGGCTATCGCATCGAGCTGCAGGCTTGC
AACCAGGACACCCYTGAGGAACGGTGCAGTGTGGCAGCYTACGTCAGTGCSAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGC
ATGAAATCTTTGAGAACAAYGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATYGTGCTGTATGAAGTGAGTTATCGGCGATATGG
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCYCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGYGAAYC
YGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCA
TCGGCCCCCTCATCTTTGTCTTTCTCTTCAGTGTTGTGATTGGAAGTATTTATCTATTCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTA
CGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTAYRTGCCGGACGAGTGGGAGGTGTCTCRAGAGAAGWTCACC
CTCCTTYGAGAGCTGGGGCAGGGCTCCTTCGKCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGYGGTGAAGA
CGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCAYGTGGTGCGCCTCCTGGG
AGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGYGGCCAGAGGCTGAGAAT
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGAYTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATY
RGGACCTGRCAGMGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATRACCAGAGACATCTATGAAACGGATTACTACCR
GAAAGGGGGCAAGGGTCTGCTCCCTGTAYRGTGGATGGCACYGRASTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTKGTCCTTTGGCGTG
GTCCTTTSGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAAC
CCGACAACTGTCCAGAGAGAGTCACTGACCTCATGCGCATGTGCTGGCAATTCAACCCCAAGATGAGGCCAACCTTCCTGGAGATTGTCAACCTGCTCAA
GGACGACCTGCACCCCAGCTTTCCAGAGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATG
GAGAATGTGCCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAAC
ACATCCCTTRCACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCRGTCCAATCCTTCCTAACAGTGCCTACCGTGGYGGGGGCG
GGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCARTGGAGTTCAGAGATCGTTC
CTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCA
YAGTTGCTGCTCCTTTGGGGCAACGACGGTTTCAAACCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTT
TTTACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTGGTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAAKTTCGAAAGAAAAA
ACAAAACAAAAACACCCAGCCCTGTTCCAGGAGAATTTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTTTCTCTCATCCAGG
CTGAAGGATTTTTTTTTTCTTTACAAAATGAGTTCCTCAAATTGACCAATAGCTGCTGCTTTCATATTTTGGATAAGGGTCTGTGGTCCCGGCGTGTGCT
CACGTGTGTATGCACGTGTGTGTGTCCATTAGACACGGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTC
TTCTCAAGGGTGCGAGCTCATCCCCCTCWCTCCTTCCTTCTTATTGACTGGGAGACTGTGSTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAG
GTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATGAATCTTTTCAAGACCAAACCAAGCTAGGACATTAAAAAA
AAAAAAAAGAAAAAGAAAGAAAAAACAAAATGGAAAAAGGAAAAAAAAAAAGAACTGAGATGACAGAGTTTTGAGAATATATTTGTACCATATTTAATTT
TTAAAGTCTCTGGTATTAGCCTCATAAGTTATTGACTATTCCCCGGGGTTGGCGGGGAGTGGGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGG
GGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAATKAAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAG
GCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGCTGGAAGGTTCCTGTTCGGATAAGCTGGTAGCTACCTAG
CTCTGAGCCTGCCTTCAAGAACACCTGTGTTCATCCTCTGATTCTCTGTGTGTACCTCTTGTGGCGTTTCCTCTCCCGGGTGTGAACATCCTAACCGTTA
TTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAATRTAAGAGAGAGGTGCACTGAGAGTACGTC
TTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGTGACCTCATCTGGGCCAGGTGTGGTGCCT
GAGCTGAATGCTCAGGTGCTTACAGTGTTGCAATCCCTAAGAGAGTAGAGTCTGGAGGAGAAACCGTGAAAAAGACCTTACACACCACCAAGAACTTCCG
AATGGGCGTGAATCCACCGTTTCTTCTCTTTGCAAAAAGAACCACCACAGCTGCTCAAAGAACACAGTGAACTCATCACTTTGGTTCATCAAAAAATCAT
CGCCCATGCGTTATTCCTGAGTGCATTTTCTTACAACTTTTTGACTG

Protein Sequence    (SEQ ID NO:1111):
MGTLQRKLLIPAGCRVYRARDENTGPRFPVHEAGSAPDPSDASTVRLLTCLAFCSFSLVVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFR
DLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVL
NKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYH
FQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGG
NNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSG
TKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQN
HPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYC
LKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNVTVAV
PTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEP
KEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGS
IYLFLRKRQPDGPLGPLYASSNPEYLSASDVVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLN
EASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTV
KIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCW
QFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSHCQREEAGGRDGGSSLGFKRSYEEHIPYTHMNGGKKNGRI
LTLPRSNPS


SNP Information

Context             (SEQ ID NO:7581):
GGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTT
S
GGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC
Celera SNP ID:            hCV27862810
SNP Position Transcript:  4008
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1254, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7582):
ATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTG
Y
GAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAAT
Celera SNP ID:            hCV2421101
SNP Position Transcript:  3095
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 950, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7583):
GAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTAC
R
TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACAT
Celera SNP ID:            hCV2421103
SNP Position Transcript:  3362
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,7|G,752)      total(G,752|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1039, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7584):
ACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACC
M
CCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGC
Celera SNP ID:            hCV25473660
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,11)   caucasian(A,32|C,2)   total(A,57|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 670, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,7)      total(A,7|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 670, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7585):
TTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTT
Y
GAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAA
Celera SNP ID:            hCV2421105
SNP Position Transcript:  3407
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1054, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7586):
AGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCG
K
CATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGG
Celera SNP ID:            hCV2421106
SNP Position Transcript:  3432
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1062, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:7587):
TGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCG
R
AGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGG
Celera SNP ID:            hCV27541130
SNP Position Transcript:  3944
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1233, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7588):
CTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCT
S
GGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTT
Celera SNP ID:            hCV2428512
SNP Position Transcript:  1641
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 465, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7589):
TGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTAC
Y
TGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGT
Celera SNP ID:            hCV25599911
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 114, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7590):
TCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGA
S
TCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCC
Celera SNP ID:            hCV11968458
SNP Position Transcript:  3946
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1233, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:7591):
CAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTC
K
TCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAG
Celera SNP ID:            hCV2428513
SNP Position Transcript:  1550
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 435, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:7592):
TCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACT
Y
GGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCC
Celera SNP ID:            hCV2428516
SNP Position Transcript:  1374
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 376, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7593):
AGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGC
R
TGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCA
Celera SNP ID:            hCV11970553
SNP Position Transcript:  1975
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,13|G,27)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 576, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 576, (A,GCG)   (A,GCA)      576, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7594):
GGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACC
Y
GGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGC
Celera SNP ID:            hCV2428518
SNP Position Transcript:  1104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 286, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7595):
GGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCC
R
CAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCG
Celera SNP ID:            hCV2428519
SNP Position Transcript:  1032
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 262, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7596):
TGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATT
Y
TGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTA
Celera SNP ID:            hCV11970557
SNP Position Transcript:  2243
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,34|T,2)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 666, (L,CTG)   (L,TTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 666, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:7597):
CAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGC
R
GAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGC
Celera SNP ID:            hCV25599952
SNP Position Transcript:  2314
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 689, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7598):
CCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTT
Y
GAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATG
Celera SNP ID:            hCV11970558
SNP Position Transcript:  2332
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 695, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 695, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:7599):
AGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGC
Y
TACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGC
Celera SNP ID:            hCV8356138
SNP Position Transcript:  2839
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 864, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7600):
AGCTACTCATCCCGGCTGGCTGCAGAGTTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTC
Y
GATGCATCCACCGTGCGTCTGCTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGC
Celera SNP ID:            hCV27838042
SNP Position Transcript:  367
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 40, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:7601):
AAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGG
Y
GGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCACGTGGTGCGC
Celera SNP ID:            hCV27530823
SNP Position Transcript:  3492
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1082, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7602):
GGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAAT
K
AAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGC
Celera SNP ID:            hCV27470056
SNP Position Transcript:  5662
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7603):
AAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAC
S
ACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATC
Celera SNP ID:            hCV27528585
SNP Position Transcript:  663
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 139, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:7604):
CATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCAC
R
AGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGG
Celera SNP ID:            hCV25599887
SNP Position Transcript:  2695
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 816, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7605):
TGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGA
Y
GGGCAGGATGCATGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGA
Celera SNP ID:            hCV25473347
SNP Position Transcript:  1963
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,32|T,8)   total(C,50|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 572, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 572, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7606):
GACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCT
R
TGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCT
Celera SNP ID:            hCV27536137
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 306, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7607):
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATC
R
GGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGG
Celera SNP ID:            hCV2421111
SNP Position Transcript:  3801
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1185, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7608):
CCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG
R
CAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGG
Celera SNP ID:            hCV2421112
SNP Position Transcript:  3809
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1188, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7609):
TTAGACACGGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTC
W
CTCCTTCCTTCTTATTGACTGGGAGACTGTGCTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCC
Celera SNP ID:            hCV11968426
SNP Position Transcript:  5229
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7610):
TTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCTGATGCATCCACCGTGCGTCTGCTCAC
Y
TGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCG
Celera SNP ID:            hCV27475974
SNP Position Transcript:  394
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,348|C,1143)   total(C,1143|T,348) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 49, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7611):
GCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTAC
R
GTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAA
Celera SNP ID:            hCV2421117
SNP Position Transcript:  3930
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1228, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7612):
CGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA
Y
GGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGA
Celera SNP ID:            hCV27529421
SNP Position Transcript:  3929
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1228, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7613):
CCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTT
R
CACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTT
Celera SNP ID:            hCV27536607
SNP Position Transcript:  4410
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1388, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7614):
GATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACG
Y
GCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTC
Celera SNP ID:            hCV27860073
SNP Position Transcript:  681
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 145, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7615):
TCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT
R
TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGT
Celera SNP ID:            hCV2931133
SNP Position Transcript:  5972
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(A,-|G,-)   JBIC-allele(A,391|G,1100)   total(G,1100|A,391) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7616):
CTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAAT
K
AGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGA
Celera SNP ID:            hCV27860074
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 177, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:7617):
GGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAA
Y
CCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATC
Celera SNP ID:            hCV27860075
SNP Position Transcript:  3099
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 951, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7618):
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATC
Y
GGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCAT
Celera SNP ID:            hCV27860076
SNP Position Transcript:  3101
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 952, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7619):
GACCTGAAGAGCTACCTCCGTTCTCTGCGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGA
Y
TGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGA
Celera SNP ID:            hCV27860077
SNP Position Transcript:  3756
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1170, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:7620):
TAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCAT
Y
GGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCG
Celera SNP ID:            hCV27860078
SNP Position Transcript:  3800
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1185, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7621):
CGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGG
Y
GGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCAATGGAGTTCAGAG
Celera SNP ID:            hCV25599924
SNP Position Transcript:  4493
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None



Context             (SEQ ID NO:7622):
TGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTG
R
TTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCG
Celera SNP ID:            hCV27536861
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 112, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7623):
AACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAA
Y
GTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCT
Celera SNP ID:            hCV15831539
SNP Position Transcript:  2920
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38|T,2)   total(C,71|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 891, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 891, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:7624):
CCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCC
Y
TGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAG
Celera SNP ID:            hCV16085001
SNP Position Transcript:  2814
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 856, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:7625):
ATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCA
Y
CACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGA
Celera SNP ID:            hCV8356183
SNP Position Transcript:  1668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 474, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7626):
GCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGA
Y
GGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGA
Celera SNP ID:            hCV8356184
SNP Position Transcript:  1108
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;Caucasian(T,9|C,73)   no_pop(T,-|C,-)   Asians(T,4|C,78)   total(C,151|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 287, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7627):
ATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGC
Y
GCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATC
Celera SNP ID:            hCV27529211
SNP Position Transcript:  591
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 115, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7628):
TCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAA
R
GACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTT
Celera SNP ID:            hCV27540672
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 84, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7629):
GAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGC
Y
GATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAA
Celera SNP ID:            hCV27540673
SNP Position Transcript:  1520
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 425, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7630):
GCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAG
W
TCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGT
Celera SNP ID:            hCV27529140
SNP Position Transcript:  3395
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1050, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:7631):
CGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACC
R
GAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTG
Celera SNP ID:            hCV27540674
SNP Position Transcript:  3900
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1218, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7632):
ACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCAC
Y
GGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAA
Celera SNP ID:            hCV27540675
SNP Position Transcript:  3942
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1232, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7633):
GGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTC
R
GTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCT
Celera SNP ID:            hCV2421123
SNP Position Transcript:  4461
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1405, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7634):
CAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAAC
Y
AGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTT
Celera SNP ID:            hCV11968437
SNP Position Transcript:  2420
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 725, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7635):
CAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCA
Y
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
Celera SNP ID:            hCV27531312
SNP Position Transcript:  662
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 139, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7636):
TTTCCCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTG
Y
GACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCC
Celera SNP ID:            hCV27536723
SNP Position Transcript:  2762
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 839, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7637):
ATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG
S
TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATG
Celera SNP ID:            hCV8356118
SNP Position Transcript:  5261
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7638):
CTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCC
K
TGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGT
Celera SNP ID:            hCV27540245
SNP Position Transcript:  824
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 193, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7639):
AGAAAGCACCTGTTTTTACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTGGTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAA
K
TTCGAAAGAAAAAACAAAACAAAAACACCCAGCCCTGTTCCAGGAGAATTTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTT
Celera SNP ID:            hCV8356119
SNP Position Transcript:  4887
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7640):
GAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAAT
Y
ACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCA
Celera SNP ID:            hCV8352014
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 197, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:7641):
TGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCT
R
CCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCC
Celera SNP ID:            hCV27862805
SNP Position Transcript:  1227
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 327, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7642):
CACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCA
R
TGGGGACCAGGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCC
Celera SNP ID:            hCV27862806
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 515, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:7643):
CGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTG
Y
GGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGC
Celera SNP ID:            hCV27862807
SNP Position Transcript:  3683
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1146, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7644):
TGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAAT
R
ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCA
Celera SNP ID:            hCV27862808
SNP Position Transcript:  3868
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1207, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:7645):
ACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGT
K
GTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGG
Celera SNP ID:            hCV27862809
SNP Position Transcript:  3987
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1247, (W,TGG)   (L,TTG)      



Context             (SEQ ID NO:7646):
CTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCAC
R
GGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGG
Celera SNP ID:            hCV16172280
SNP Position Transcript:  2773
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 842, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7647):
CTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTC
R
AGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGC
Celera SNP ID:            hCV11968441
SNP Position Transcript:  3387
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1047, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7648):
TCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGC
S
AGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGG
Celera SNP ID:            hCV16172281
SNP Position Transcript:  2851
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 868, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:7649):
CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGAT
Y
GTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTG
Celera SNP ID:            hCV16172285
SNP Position Transcript:  2968
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 907, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:7650):
AGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGC
Y
CTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCA
Celera SNP ID:            hCV16172286
SNP Position Transcript:  3043
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 932, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7651):
TGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCA
R
TGGAGTTCAGAGATCGTTCCTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCT
Celera SNP ID:            hCV8356120
SNP Position Transcript:  4581
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,8|G,32)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7652):
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
S
GAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACG
Celera SNP ID:            hCV2421316
SNP Position Transcript:  763
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 172, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:7653):
CACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACT
R
GTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAG
Celera SNP ID:            hCV2421318
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 186, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:7654):
CCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA
Y
GTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGC
Celera SNP ID:            hCV8356128
SNP Position Transcript:  3583
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,30|T,6)   total(C,51|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 1112, (H,CAC)   (H,CAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,136|C,623)      total(C,623|T,136) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 1112, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7655):
CTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTG
Y
CATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTG
Celera SNP ID:            hCV27531256
SNP Position Transcript:  489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 81, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:7656):
TGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTA
Y
GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACA
Celera SNP ID:            hCV8356129
SNP Position Transcript:  3361
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,45|C,714)      total(C,714|T,45) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1111, 1038, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7657):
ATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCA
R
GGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTC
Celera SNP ID:            hCV27531257
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 419, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7658):
CTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCA
Y
AGTTGCTGCTCCTTTGGGGCAACGACGGTTTCAAACCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTTT
Celera SNP ID:            hCV15831555
SNP Position Transcript:  4701
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1111, None   



Context             (SEQ ID NO:7659):
GTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAG
W
AGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGA
Celera SNP ID:            hCV27540722
SNP Position Transcript:  767
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 174, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:7660):
CCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAG
M
GAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAG
Celera SNP ID:            hCV27540723
SNP Position Transcript:  3813
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1111, 1189, (E,GAG)   (A,GCG)      



Gene Number:                 158
Celera Gene:                 hCG21793 - 114000133414534
Celera Transcript:           hCT2288732 - 114000133414609
Public Transcript Accession: NM_000208
Celera Protein:              hCP1801018 - 197000064933659
Public Protein Accession:    NP_000199
Gene Symbol:                 INSR
Protein Name:                insulin receptor
Celera Genomic Axis:         GA_x5YUV32VWJV(1464897..1618399)
Chromosome:                  Chr19
OMIM number:                 147670
OMIM Information:            INSULIN RECEPTOR;INSR


Transcript Sequence (SEQ ID NO:415):
CATTTAGCTTTCCTTGCCCCATTTCTGACCGCGGGCACCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATGTTGACGCACTGGAGACAGTTCCCC
TTTCTCCTTCTGCACCTGCCGCGTTACTCAATCCCCTGTAATCCCATTGTCCCGACTGCATCATTTCAGAGGTGGTGATTTTAAGGATTTTAACAGGGCT
TGCCAAAAGAATTATTTTCTTGGCGTTTTGAAAGTAATTACTTAGGCATGGGTACTTTACAGAGAAAGCTACTCATCCCGGCTGGCTGCAGAGTTTACAG
GGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCYGATGCATCCACCGTGCGTCTGCTCACYTGTCTT
GCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGYCATCGAARGAC
ACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGRTTACYTGCYGCTCTTCCG
GGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAYSACTGTTCTTTAACTACGYGCTGGTCATCTTCGAGATG
GTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATSGAGWAGAACAATKAGCTCTGTTACTTGGCCACTATCG
ACTRGTCCCGTATCCTGGATTCCKTGGAGGATAATYACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGG
CAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCA
CACGGCTGCACCGCCGAAGGCCTCTGTTGCCRCAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCT
ACCYGGAYGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTRTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAA
ATGCAAGAACTCGCGGAGGCAGGGCTRCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAAC
TTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTYGGTGACGTCTGCCCAGGAGCTCCGAG
GATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTC
ARGGTATCTAAAAATCCGCYGATCCTACGCTCTGGTGTCACTTTCCTTCKTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTAC
TCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTSGGACTGGAGCAAACACAACCTCACCAYCACTCAGGGGAAACTCTTCTTCCACTATAACC
CCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCARTGGGGACCA
GGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGA
GACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGAYGGGCAGGATGCRTGTGGTTCCAACAGTTGGACGGTGG
TAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTT
TGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCC
CTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTYTGAAGTGGAAACCMCCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCT
GGGAGAGGCAGGCRGAAGACAGTGAGCTGTTYGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGA
AGATTCTCAGAAGCACAACYAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAG
TCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAGAAAAACCTCTTCAGGCACTGGTGCCGAGGACCCTAGGCCATCTC
GGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACRAGTCC
GGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGYGACACTTCACRGGCTATCGCATCGAGCTGCAGGCTTGC
AACCAGGACACCCYTGAGGAACGGTGCAGTGTGGCAGCYTACGTCAGTGCSAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGC
ATGAAATCTTTGAGAACAAYGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATYGTGCTGTATGAAGTGAGTTATCGGCGATATGG
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCYCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGYGAAYC
YGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATCG
GCCCCCTCATCTTTGTCTTTCTCTTCAGTGTTGTGATTGGAAGTATTTATCTATTCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGC
TTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTAYRTGCCGGACGAGTGGGAGGTGTCTCRAGAGAAGWTCACCCTC
CTTYGAGAGCTGGGGCAGGGCTCCTTCGKCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGYGGTGAAGACGG
TCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCAYGTGGTGCGCCTCCTGGGAGT
GGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGYGGCCAGAGGCTGAGAATAAT
CCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGAYTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATYRGG
ACCTGRCAGMGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATRACCAGAGACATCTATGAAACGGATTACTACCRGAA
AGGGGGCAAGGGTCTGCTCCCTGTAYRGTGGATGGCACYGRASTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTKGTCCTTTGGCGTGGTC
CTTTSGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCG
ACAACTGTCCAGAGAGAGTCACTGACCTCATGCGCATGTGCTGGCAATTCAACCCCAAGATGAGGCCAACCTTCCTGGAGATTGTCAACCTGCTCAAGGA
CGACCTGCACCCCAGCTTTCCAGAGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAG
AATGTGCCCCTGGACCGTTCCTCWCTCCTTCCTTCTTATTGACTGGGAGACTGTGSTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTC
TACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATGAATCTTTTCAAGACCAAACCAAGCTAGGACATTAAAAAAAAAAA
AAAGAAAAAGAAAGAAAAAACAAAATGGAAAAAGGAAAAAAAAAAAGAACTGAGATGACAGAGTTTTGAGAATATATTTGTACCATATTTAATTTTTAAA
GTCTCTGGTATTAGCCTCATAAGTTATTGACTATTCCCCGGGGTTGGCGGGGAGTGGGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGG
GAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAATKAAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCAC
GTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGCTGGAAGGTTCCTGTTCGGATAAGCTGGTAGCTACCTAGCTCTG
AGCCTGCCTTCAAGAACACCTGTGTTCATCCTCTGATTCTCTGTGTGTACCTCTTGTGGCGTTTCCTCTCCCGGGTGTGAACATCCTAACCGTTATTGTG
CAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAATRTAAGAGAGAGGTGCACTGAGAGTACGTCTTGGT
CCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGTGACCTCATCTGGGCCAGGTGTGGTGCCTGAGCT
GAATGCTCAGGTGCTTACAGTGTTGCAATCCCTAAGAGAGTAGAGTCTGGAGGAGAAACCGTGAAAAAGACCTTACACACCACCAAGAACTTCCGAATGG
GCGTGAATCCACCGTTTCTTCTCTTTGCAAAAAGAACCACCACAGCTGCTCAAAGAACACAGTGAACTCATCACTTTGGTTCATCAAAAAATCATCGCCC
ATGCGTTATTCCTGAGTGCATTTTCTTACAACTTTTTGACTGCTTCCTTTTCTTCTTCTCTTAAGAGTTGTGGGCTTAAGAATGGGATAGAGTCATAATG
GCAACCTCCAAGCCCTCTCAATTCTTGATTAAGAACACAGGTAGACATGAATCCCAATTGTCTATTGCTATCTTATTTATATGATTCGGGAAAATACAGC
ATGTAAAAATATTGCTGAGGAGCCTCAGTGATTGGGTACAASAAGCAAGAGTACAGAAATTATTTTTGCCAAATTTATTTTGTAAATATGAGGGTCTGTA
CCTAAATTTAAAAAAAAAAACACGTAGAACTAGGTATTTTGTTCTCTTCTTAGTAAATTTGTAGTGGTTGTATACTACACTAGCTGCAATTTTCACATTT
TTCTAATTCAGAAAGGTTTTTCTTATATTAGGGGAAAAAGTATTTATTTTAATATATAAAATCACTCTGAAAATCACTCTC

Protein Sequence    (SEQ ID NO:1112):
MGTLQRKLLIPAGCRVYRARDENTGPRFPVHEAGSAPDPSDASTVRLLTCLAFCSFSLVVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFR
DLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVL
NKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYH
FQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGG
NNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSG
TKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQN
HPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYC
LKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNVTVAV
PTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEP
KEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYYVPSNIAKIIIGPLIFVFLFSVVIGSI
YLFLRKRQPDGPLGPLYASSNPEYLSASDVVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNE
ASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVK
IGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQ
FNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSLLPSY


SNP Information

Context             (SEQ ID NO:7661):
GGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTT
S
GGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC
Celera SNP ID:            hCV27862810
SNP Position Transcript:  4005
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1253, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7662):
ATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTG
Y
GAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTAT
Celera SNP ID:            hCV2421101
SNP Position Transcript:  3095
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 950, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7663):
GAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTAC
R
TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACAT
Celera SNP ID:            hCV2421103
SNP Position Transcript:  3359
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,7|G,752)      total(G,752|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1038, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7664):
ACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACC
M
CCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGC
Celera SNP ID:            hCV25473660
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,11)   caucasian(A,32|C,2)   total(A,57|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 670, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,7)      total(A,7|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 670, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7665):
TTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTT
Y
GAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAA
Celera SNP ID:            hCV2421105
SNP Position Transcript:  3404
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1053, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7666):
AGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCG
K
CATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGG
Celera SNP ID:            hCV2421106
SNP Position Transcript:  3429
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1061, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:7667):
TGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCG
R
AGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGG
Celera SNP ID:            hCV27541130
SNP Position Transcript:  3941
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1232, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7668):
CTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCT
S
GGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTT
Celera SNP ID:            hCV2428512
SNP Position Transcript:  1641
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 465, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7669):
TGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTAC
Y
TGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGT
Celera SNP ID:            hCV25599911
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 114, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7670):
TCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGA
S
TCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCC
Celera SNP ID:            hCV11968458
SNP Position Transcript:  3943
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1232, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:7671):
CAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTC
K
TCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAG
Celera SNP ID:            hCV2428513
SNP Position Transcript:  1550
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 435, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:7672):
TCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACT
Y
GGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCC
Celera SNP ID:            hCV2428516
SNP Position Transcript:  1374
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 376, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7673):
AGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGC
R
TGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCA
Celera SNP ID:            hCV11970553
SNP Position Transcript:  1975
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,13|G,27)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 576, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 576, (A,GCG)   (A,GCA)      576, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7674):
GGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACC
Y
GGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGC
Celera SNP ID:            hCV2428518
SNP Position Transcript:  1104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 286, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7675):
GGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCC
R
CAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCG
Celera SNP ID:            hCV2428519
SNP Position Transcript:  1032
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 262, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7676):
TGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATT
Y
TGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTA
Celera SNP ID:            hCV11970557
SNP Position Transcript:  2243
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,34|T,2)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 666, (L,CTG)   (L,TTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 666, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:7677):
CAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGC
R
GAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGC
Celera SNP ID:            hCV25599952
SNP Position Transcript:  2314
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 689, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7678):
CCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTT
Y
GAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATG
Celera SNP ID:            hCV11970558
SNP Position Transcript:  2332
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 695, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 695, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:7679):
AGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGC
Y
TACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGC
Celera SNP ID:            hCV8356138
SNP Position Transcript:  2839
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 864, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7680):
AGCTACTCATCCCGGCTGGCTGCAGAGTTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTC
Y
GATGCATCCACCGTGCGTCTGCTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGC
Celera SNP ID:            hCV27838042
SNP Position Transcript:  367
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 40, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:7681):
AAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGG
Y
GGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCACGTGGTGCGC
Celera SNP ID:            hCV27530823
SNP Position Transcript:  3489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1081, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7682):
GGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAAT
K
AAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGC
Celera SNP ID:            hCV27470056
SNP Position Transcript:  4757
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1112, None   



Context             (SEQ ID NO:7683):
AAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAC
S
ACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATC
Celera SNP ID:            hCV27528585
SNP Position Transcript:  663
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 139, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:7684):
CATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCAC
R
AGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGG
Celera SNP ID:            hCV25599887
SNP Position Transcript:  2695
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 816, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7685):
TGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGA
Y
GGGCAGGATGCATGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGA
Celera SNP ID:            hCV25473347
SNP Position Transcript:  1963
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,32|T,8)   total(C,50|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 572, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 572, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7686):
GACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCT
R
TGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCT
Celera SNP ID:            hCV27536137
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 306, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7687):
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATC
R
GGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGG
Celera SNP ID:            hCV2421111
SNP Position Transcript:  3798
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1184, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7688):
CCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG
R
CAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGG
Celera SNP ID:            hCV2421112
SNP Position Transcript:  3806
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1187, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7689):
AGGTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTC
W
CTCCTTCCTTCTTATTGACTGGGAGACTGTGCTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCC
Celera SNP ID:            hCV11968426
SNP Position Transcript:  4324
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 1359, (S,TCA)   (S,TCT)      



Context             (SEQ ID NO:7690):
TTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCTGATGCATCCACCGTGCGTCTGCTCAC
Y
TGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCG
Celera SNP ID:            hCV27475974
SNP Position Transcript:  394
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,348|C,1143)   total(C,1143|T,348) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 49, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7691):
GCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTAC
R
GTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAA
Celera SNP ID:            hCV2421117
SNP Position Transcript:  3927
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1227, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7692):
CGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA
Y
GGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGA
Celera SNP ID:            hCV27529421
SNP Position Transcript:  3926
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1227, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7693):
GATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACG
Y
GCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTC
Celera SNP ID:            hCV27860073
SNP Position Transcript:  681
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 145, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7694):
TCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT
R
TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGT
Celera SNP ID:            hCV2931133
SNP Position Transcript:  5067
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(A,-|G,-)   JBIC-allele(A,391|G,1100)   total(G,1100|A,391) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1112, None   



Context             (SEQ ID NO:7695):
CTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAAT
K
AGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGA
Celera SNP ID:            hCV27860074
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 177, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:7696):
GGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAA
Y
CCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATC
Celera SNP ID:            hCV27860075
SNP Position Transcript:  3099
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 951, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7697):
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATC
Y
GGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTACGTCCCGTCAAATATTGCAAAAATTATCATCGG
Celera SNP ID:            hCV27860076
SNP Position Transcript:  3101
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 952, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7698):
GACCTGAAGAGCTACCTCCGTTCTCTGCGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGA
Y
TGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGA
Celera SNP ID:            hCV27860077
SNP Position Transcript:  3753
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1169, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:7699):
TAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCAT
Y
GGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCG
Celera SNP ID:            hCV27860078
SNP Position Transcript:  3797
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1184, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7700):
TGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTG
R
TTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCG
Celera SNP ID:            hCV27536861
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 112, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7701):
AACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAA
Y
GTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCT
Celera SNP ID:            hCV15831539
SNP Position Transcript:  2920
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38|T,2)   total(C,71|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 891, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 891, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:7702):
CCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCC
Y
TGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAG
Celera SNP ID:            hCV16085001
SNP Position Transcript:  2814
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 856, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:7703):
ATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCA
Y
CACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGA
Celera SNP ID:            hCV8356183
SNP Position Transcript:  1668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 474, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7704):
GCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGA
Y
GGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGA
Celera SNP ID:            hCV8356184
SNP Position Transcript:  1108
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;Caucasian(T,9|C,73)   no_pop(T,-|C,-)   Asians(T,4|C,78)   total(C,151|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 287, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7705):
ATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGC
Y
GCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATC
Celera SNP ID:            hCV27529211
SNP Position Transcript:  591
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 115, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7706):
TCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAA
R
GACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTT
Celera SNP ID:            hCV27540672
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 84, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7707):
GAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGC
Y
GATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAA
Celera SNP ID:            hCV27540673
SNP Position Transcript:  1520
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 425, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7708):
GCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAG
W
TCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGT
Celera SNP ID:            hCV27529140
SNP Position Transcript:  3392
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1049, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:7709):
CGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACC
R
GAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTG
Celera SNP ID:            hCV27540674
SNP Position Transcript:  3897
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1217, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7710):
ACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCAC
Y
GGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAA
Celera SNP ID:            hCV27540675
SNP Position Transcript:  3939
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1231, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7711):
CAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAAC
Y
AGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTT
Celera SNP ID:            hCV11968437
SNP Position Transcript:  2420
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 725, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7712):
TAGACATGAATCCCAATTGTCTATTGCTATCTTATTTATATGATTCGGGAAAATACAGCATGTAAAAATATTGCTGAGGAGCCTCAGTGATTGGGTACAA
S
AAGCAAGAGTACAGAAATTATTTTTGCCAAATTTATTTTGTAAATATGAGGGTCTGTACCTAAATTTAAAAAAAAAAACACGTAGAACTAGGTATTTTGT
Celera SNP ID:            hCV8356111
SNP Position Transcript:  5642
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1112, None   



Context             (SEQ ID NO:7713):
CAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCA
Y
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
Celera SNP ID:            hCV27531312
SNP Position Transcript:  662
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 139, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7714):
TTTCCCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTG
Y
GACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCC
Celera SNP ID:            hCV27536723
SNP Position Transcript:  2762
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 839, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7715):
GCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG
S
TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATG
Celera SNP ID:            hCV8356118
SNP Position Transcript:  4356
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1112, None   



Context             (SEQ ID NO:7716):
CTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCC
K
TGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGT
Celera SNP ID:            hCV27540245
SNP Position Transcript:  824
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 193, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7717):
GAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAAT
Y
ACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCA
Celera SNP ID:            hCV8352014
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 197, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:7718):
TGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCT
R
CCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCC
Celera SNP ID:            hCV27862805
SNP Position Transcript:  1227
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 327, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7719):
CACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCA
R
TGGGGACCAGGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCC
Celera SNP ID:            hCV27862806
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 515, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:7720):
CGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTG
Y
GGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGC
Celera SNP ID:            hCV27862807
SNP Position Transcript:  3680
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1145, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7721):
TGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAAT
R
ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCA
Celera SNP ID:            hCV27862808
SNP Position Transcript:  3865
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1206, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:7722):
CTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTC
R
AGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGC
Celera SNP ID:            hCV11968441
SNP Position Transcript:  3384
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1046, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7723):
CTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCAC
R
GGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGG
Celera SNP ID:            hCV16172280
SNP Position Transcript:  2773
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 842, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7724):
ACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGT
K
GTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGG
Celera SNP ID:            hCV27862809
SNP Position Transcript:  3984
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1246, (W,TGG)   (L,TTG)      



Context             (SEQ ID NO:7725):
TCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGC
S
AGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGG
Celera SNP ID:            hCV16172281
SNP Position Transcript:  2851
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 868, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:7726):
CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGAT
Y
GTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTG
Celera SNP ID:            hCV16172285
SNP Position Transcript:  2968
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 907, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:7727):
AGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGC
Y
CTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCA
Celera SNP ID:            hCV16172286
SNP Position Transcript:  3043
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 932, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7728):
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
S
GAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACG
Celera SNP ID:            hCV2421316
SNP Position Transcript:  763
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 172, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:7729):
CACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACT
R
GTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAG
Celera SNP ID:            hCV2421318
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 186, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:7730):
CCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA
Y
GTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGC
Celera SNP ID:            hCV8356128
SNP Position Transcript:  3580
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,30|T,6)   total(C,51|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 1111, (H,CAC)   (H,CAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,136|C,623)      total(C,623|T,136) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 1111, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7731):
CTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTG
Y
CATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTG
Celera SNP ID:            hCV27531256
SNP Position Transcript:  489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 81, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:7732):
TGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTA
Y
GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACA
Celera SNP ID:            hCV8356129
SNP Position Transcript:  3358
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,45|C,714)      total(C,714|T,45) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1112, 1037, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7733):
ATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCA
R
GGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTC
Celera SNP ID:            hCV27531257
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 419, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7734):
GTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAG
W
AGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGA
Celera SNP ID:            hCV27540722
SNP Position Transcript:  767
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 174, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:7735):
CCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAG
M
GAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAG
Celera SNP ID:            hCV27540723
SNP Position Transcript:  3810
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1112, 1188, (E,GAG)   (A,GCG)      



Gene Number:                 158
Celera Gene:                 hCG21793 - 114000133414534
Celera Transcript:           hCT2288727 - 114000133414585
Public Transcript Accession: NM_000208
Celera Protein:              hCP1801017 - 197000064933658
Public Protein Accession:    NP_000199
Gene Symbol:                 INSR
Protein Name:                insulin receptor
Celera Genomic Axis:         GA_x5YUV32VWJV(1464897..1617960)
Chromosome:                  Chr19
OMIM number:                 147670
OMIM Information:            INSULIN RECEPTOR;INSR


Transcript Sequence (SEQ ID NO:416):
CATTTAGCTTTCCTTGCCCCATTTCTGACCGCGGGCACCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATGTTGACGCACTGGAGACAGTTCCCC
TTTCTCCTTCTGCACCTGCCGCGTTACTCAATCCCCTGTAATCCCATTGTCCCGACTGCATCATTTCAGAGGTGGTGATTTTAAGGATTTTAACAGGGCT
TGCCAAAAGAATTATTTTCTTGGCGTTTTGAAAGTAATTACTTAGGCATGGGTACTTTACAGAGAAAGCTACTCATCCCGGCTGGCTGCAGAGTTTACAG
GGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCYGATGCATCCACCGTGCGTCTGCTCACYTGTCTT
GCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGYCATCGAARGAC
ACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGRTTACYTGCYGCTCTTCCG
GGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAYSACTGTTCTTTAACTACGYGCTGGTCATCTTCGAGATG
GTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATSGAGWAGAACAATKAGCTCTGTTACTTGGCCACTATCG
ACTRGTCCCGTATCCTGGATTCCKTGGAGGATAATYACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGG
CAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCA
CACGGCTGCACCGCCGAAGGCCTCTGTTGCCRCAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCT
ACCYGGAYGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTRTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAA
ATGCAAGAACTCGCGGAGGCAGGGCTRCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAAC
TTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTYGGTGACGTCTGCCCAGGAGCTCCGAG
GATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTC
ARGGTATCTAAAAATCCGCYGATCCTACGCTCTGGTGTCACTTTCCTTCKTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTAC
TCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTSGGACTGGAGCAAACACAACCTCACCAYCACTCAGGGGAAACTCTTCTTCCACTATAACC
CCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCARTGGGGACCA
GGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGA
GACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGAYGGGCAGGATGCRTGTGGTTCCAACAGTTGGACGGTGG
TAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTT
TGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCC
CTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTYTGAAGTGGAAACCMCCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCT
GGGAGAGGCAGGCRGAAGACAGTGAGCTGTTYGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGA
AGATTCTCAGAAGCACAACYAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAG
TCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAGGCCATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGA
CGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACRAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAA
GGAGTCGCTGGTCATCTCCGGCTTGYGACACTTCACRGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCYTGAGGAACGGTGCAGTGTGGCA
GCYTACGTCAGTGCSAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAAYGTCGTCCACTTGATGT
GGCAGGAGCCGAAGGAGCCCAATGGTCTGATYGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCA
CTTCGCYCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGYGAAYCYGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACG
GAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCATCGGCCCCCTCATCTTTGTCTTTCTCTTCAGTGTTG
TGATTGGAAGTATTTATCTATTCCTGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGA
TGTAGTGTTTCCATGCTCTGTGTAYRTGCCGGACGAGTGGGAGGTGTCTCRAGAGAAGWTCACCCTCCTTYGAGAGCTGGGGCAGGGCTCCTTCGKCATG
GTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGYGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTG
AGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCAYGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGAT
GGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGYGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATG
ATTCAGATGGCGGCAGAGAYTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATYRGGACCTGRCAGMGAGAAACTGCATGGTCGCCCATG
ATTTTACTGTCAAAATTGGAGACTTTGGAATRACCAGAGACATCTATGAAACGGATTACTACCRGAAAGGGGGCAAGGGTCTGCTCCCTGTAYRGTGGAT
GGCACYGRASTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTKGTCCTTTGGCGTGGTCCTTTSGGAAATCACCAGCTTGGCAGAACAGCCT
TACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAACTGTCCAGAGAGAGTCACTGACCTCATGC
GCATGTGCTGGCAATTCAACCCCAAGATGAGGCCAACCTTCCTGGAGATTGTCAACCTGCTCAAGGACGACCTGCACCCCAGCTTTCCAGAGGTGTCGTT
CTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAGTTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTCGCACTGTCAG
AGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTTRCACACACATGAACGGAGGCAAGAAAA
ACGGGCGGATTCTGACCTTGCCTCRGTCCAATCCTTCCTAACAGTGCCTACCGTGGYGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGA
AAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCARTGGAGTTCAGAGATCGTTCCTATACATTTCTGTTCATCTTAAGGTGGACTCGTTT
GGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCAYAGTTGCTGCTCCTTTGGGGCAACGACGGTTTCAAA
CCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTTTTTACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTG
GTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAAKTTCGAAAGAAAAAACAAAACAAAAACACCCAGCCCTGTTCCAGGAGAAT
TTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTTTCTCTCATCCAGGCTGAAGGATTTTTTTTTTCTTTACAAAATGAGTTCC
TCAAATTGACCAATAGCTGCTGCTTTCATATTTTGGATAAGGGTCTGTGGTCCCGGCGTGTGCTCACGTGTGTATGCACGTGTGTGTGTCCATTAGACAC
GGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTCWCTCCTTC
CTTCTTATTGACTGGGAGACTGTGSTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAG
GAGCATTTCATTTGGAGTGATTATGAATCTTTTCAAGACCAAACCAAGCTAGGACATTAAAAAAAAAAAAAAGAAAAAGAAAGAAAAAACAAAATGGAAA
AAGGAAAAAAAAAAAGAACTGAGATGACAGAGTTTTGAGAATATATTTGTACCATATTTAATTTTTAAAGTCTCTGGTATTAGCCTCATAAGTTATTGAC
TATTCCCCGGGGTTGGCGGGGAGTGGGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGT
CTTAAAGGCATCCATTTCTGGGAATKAAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGA
TGGTCTGGTTCAGGTACCAGGTCTGCTGGAAGGTTCCTGTTCGGATAAGCTGGTAGCTACCTAGCTCTGAGCCTGCCTTCAAGAACACCTGTGTTCATCC
TCTGATTCTCTGTGTGTACCTCTTGTGGCGTTTCCTCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACA
ACAACCTGGATGGACTTTGGGAACATCTAAGCAATRTAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCT
CAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGTGACCTCATCTGGGCCAGGTGTGGTGCCTGAGCTGAATGCTCAGGTGCTTACAGTGTTGCAATCC
CTAAGAGAGTAGAGTCTGGAGGAGAAACCGTGAAAAAGACCTTACACACCACCAAGAACTTCCGAATGGGCGTGAATCCACCGTTTCTTCTCTTTGCAAA
AAGAACCACCACAGCTGCTCAAAGAACACAGTGAACTCATCACTTTGGTTCATCAAAAAATCATCGCCCATGCGTTATTCCTGAGTGCATTTTCTTACAA
CTTTTTGACTG

Protein Sequence    (SEQ ID NO:1113):
MGTLQRKLLIPAGCRVYRARDENTGPRFPVHEAGSAPDPSDASTVRLLTCLAFCSFSLVVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFR
DLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVL
NKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYH
FQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGG
NNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSG
TKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQN
HPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYC
LKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRPSRKRRSLGDVGNVTVAVPTVAAFPNTSST
SVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEPKEPNGLIVLYEV
SYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLRKRQPDG
PLGPLYASSNPEYLSASDVVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEASVMKGFTCHH
VVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIY
ETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLE
IVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSHCQREEAGGRDGGSSLGFKRSYEEHIPYTHMNGGKKNGRILTLPRSNPS


SNP Information

Context             (SEQ ID NO:7736):
GGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTT
S
GGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC
Celera SNP ID:            hCV27862810
SNP Position Transcript:  3972
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1242, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7737):
ATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTG
Y
GAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAAT
Celera SNP ID:            hCV2421101
SNP Position Transcript:  3059
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 938, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7738):
GAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTAC
R
TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACAT
Celera SNP ID:            hCV2421103
SNP Position Transcript:  3326
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Caucasian(A,7|G,752)      total(G,752|A,7) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1027, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:7739):
ACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACC
M
CCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGC
Celera SNP ID:            hCV25473660
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,11)   caucasian(A,32|C,2)   total(A,57|C,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 670, (P,CCA)   (P,CCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,7)      total(A,7|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 670, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:7740):
TTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTT
Y
GAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAA
Celera SNP ID:            hCV2421105
SNP Position Transcript:  3371
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1042, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7741):
AGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCG
K
CATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGG
Celera SNP ID:            hCV2421106
SNP Position Transcript:  3396
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1050, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:7742):
TGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCG
R
AGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGG
Celera SNP ID:            hCV27541130
SNP Position Transcript:  3908
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1221, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:7743):
CTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCT
S
GGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTT
Celera SNP ID:            hCV2428512
SNP Position Transcript:  1641
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 465, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7744):
TGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTAC
Y
TGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGT
Celera SNP ID:            hCV25599911
SNP Position Transcript:  587
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 114, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7745):
TCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGA
S
TCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCC
Celera SNP ID:            hCV11968458
SNP Position Transcript:  3910
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1221, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:7746):
CAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTC
K
TCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAG
Celera SNP ID:            hCV2428513
SNP Position Transcript:  1550
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 435, (V,GTC)   (F,TTC)      



Context             (SEQ ID NO:7747):
TCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACT
Y
GGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCC
Celera SNP ID:            hCV2428516
SNP Position Transcript:  1374
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 376, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7748):
AGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGC
R
TGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCA
Celera SNP ID:            hCV11970553
SNP Position Transcript:  1975
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,13|G,27)   total(A,16|G,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 576, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 576, (A,GCG)   (A,GCA)      576, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7749):
GGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACC
Y
GGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGC
Celera SNP ID:            hCV2428518
SNP Position Transcript:  1104
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 286, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7750):
GGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAGTTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCC
R
CAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCG
Celera SNP ID:            hCV2428519
SNP Position Transcript:  1032
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 262, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7751):
TGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCAACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATT
Y
TGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTA
Celera SNP ID:            hCV11970557
SNP Position Transcript:  2243
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,34|T,2)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 666, (L,CTG)   (L,TTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 666, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:7752):
CAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGC
R
GAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGC
Celera SNP ID:            hCV25599952
SNP Position Transcript:  2314
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 689, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7753):
CCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTT
Y
GAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATG
Celera SNP ID:            hCV11970558
SNP Position Transcript:  2332
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,38)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 695, (F,TTC)   (F,TTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 695, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:7754):
AGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGC
Y
TACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGC
Celera SNP ID:            hCV8356138
SNP Position Transcript:  2803
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 852, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7755):
AGCTACTCATCCCGGCTGGCTGCAGAGTTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTC
Y
GATGCATCCACCGTGCGTCTGCTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGC
Celera SNP ID:            hCV27838042
SNP Position Transcript:  367
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,40)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 40, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:7756):
AAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGG
Y
GGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCACGTGGTGCGC
Celera SNP ID:            hCV27530823
SNP Position Transcript:  3456
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1070, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7757):
GGGACATGAGTTGGTCTGCCTGTTGTGGGGCCGGGAAGGGGAGGGAGTCAGGCACAAGTGGCCTCTTTGTTTGGTCTTAAAGGCATCCATTTCTGGGAAT
K
AAGCCATGTTCGCTGCTAACACTTTTGGATGTTGTGAGGCCACGTGGAGTGTGTGAGAGACTAGGTTTTATGGATGGTCTGGTTCAGGTACCAGGTCTGC
Celera SNP ID:            hCV27470056
SNP Position Transcript:  5626
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7758):
AAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCAC
S
ACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATC
Celera SNP ID:            hCV27528585
SNP Position Transcript:  663
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 139, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:7759):
CATCTCGGAAACGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCAC
R
AGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGG
Celera SNP ID:            hCV25599887
SNP Position Transcript:  2659
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 804, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7760):
TGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGCCCCTTATCAGAATGTGACGGAGTTCGA
Y
GGGCAGGATGCATGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGA
Celera SNP ID:            hCV25473347
SNP Position Transcript:  1963
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,16)   caucasian(C,32|T,8)   total(C,50|T,24)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 572, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 572, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7761):
GACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCT
R
TGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCT
Celera SNP ID:            hCV27536137
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 306, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:7762):
AATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATC
R
GGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGG
Celera SNP ID:            hCV2421111
SNP Position Transcript:  3765
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1173, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7763):
CCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG
R
CAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGG
Celera SNP ID:            hCV2421112
SNP Position Transcript:  3773
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1176, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7764):
TTAGACACGGCTGATGTGTGTGCAAAGTATCCATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTC
W
CTCCTTCCTTCTTATTGACTGGGAGACTGTGCTCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCC
Celera SNP ID:            hCV11968426
SNP Position Transcript:  5193
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7765):
TTTACAGGGCCCGGGATGAAAACACAGGGCCCAGGTTTCCTGTCCATGAAGCCGGCTCTGCCCCTGATCCTTCTGATGCATCCACCGTGCGTCTGCTCAC
Y
TGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCG
Celera SNP ID:            hCV27475974
SNP Position Transcript:  394
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,348|C,1143)   total(C,1143|T,348) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 49, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7766):
GCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTAC
R
GTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAA
Celera SNP ID:            hCV2421117
SNP Position Transcript:  3894
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1216, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7767):
CGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA
Y
GGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGA
Celera SNP ID:            hCV27529421
SNP Position Transcript:  3893
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1216, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7768):
CCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCGGGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTT
R
CACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTT
Celera SNP ID:            hCV27536607
SNP Position Transcript:  4374
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1376, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7769):
GATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACG
Y
GCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTC
Celera SNP ID:            hCV27860073
SNP Position Transcript:  681
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 145, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:7770):
TCTCCCGGGTGTGAACATCCTAACCGTTATTGTGCAAACCCAAGAACGTCAGATCCCAAAGCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT
R
TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCCACCCTGAGAGCATCTGACGGTCCTCAGTACTGAACTCCCGGAAGCTGCTCTGAGCCCGGT
Celera SNP ID:            hCV2931133
SNP Position Transcript:  5936
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(A,-|G,-)   JBIC-allele(A,391|G,1100)   total(G,1100|A,391) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7771):
CTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAAT
K
AGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGA
Celera SNP ID:            hCV27860074
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 177, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:7772):
GGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAA
Y
CCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATC
Celera SNP ID:            hCV27860075
SNP Position Transcript:  3063
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 939, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7773):
TGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATC
Y
GGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACCTATTTCTACGTGACAGACTATTTAGACGTCCCGTCAAATATTGCAAAAATTATCAT
Celera SNP ID:            hCV27860076
SNP Position Transcript:  3065
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 940, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7774):
GACCTGAAGAGCTACCTCCGTTCTCTGCGGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGA
Y
TGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGA
Celera SNP ID:            hCV27860077
SNP Position Transcript:  3720
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1158, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:7775):
TAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCAT
Y
GGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCG
Celera SNP ID:            hCV27860078
SNP Position Transcript:  3764
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1173, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7776):
CGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAATCCTTCCTAACAGTGCCTACCGTGG
Y
GGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCAATGGAGTTCAGAG
Celera SNP ID:            hCV25599924
SNP Position Transcript:  4457
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None



Context             (SEQ ID NO:7777):
TGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTG
R
TTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCG
Celera SNP ID:            hCV27536861
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 112, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:7778):
AACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAA
Y
GTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCT
Celera SNP ID:            hCV15831539
SNP Position Transcript:  2884
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,38|T,2)   total(C,71|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 879, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 879, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:7779):
CCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCC
Y
TGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAG
Celera SNP ID:            hCV16085001
SNP Position Transcript:  2778
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 844, (P,CCT)   (L,CTT)      



Context             (SEQ ID NO:7780):
ATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCA
Y
CACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGA
Celera SNP ID:            hCV8356183
SNP Position Transcript:  1668
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 474, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:7781):
GCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGA
Y
GGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGA
Celera SNP ID:            hCV8356184
SNP Position Transcript:  1108
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,5)      total(C,5|T,2) ;Caucasian(T,9|C,73)   no_pop(T,-|C,-)   Asians(T,4|C,78)   total(C,151|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 287, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:7782):
ATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGC
Y
GCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATC
Celera SNP ID:            hCV27529211
SNP Position Transcript:  591
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 115, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7783):
TCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAA
R
GACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTT
Celera SNP ID:            hCV27540672
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 84, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7784):
GAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGC
Y
GATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTCCTTCTATGCCTTGGACAA
Celera SNP ID:            hCV27540673
SNP Position Transcript:  1520
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 425, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7785):
GCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAG
W
TCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGT
Celera SNP ID:            hCV27529140
SNP Position Transcript:  3359
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1038, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:7786):
CGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACC
R
GAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTG
Celera SNP ID:            hCV27540674
SNP Position Transcript:  3864
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1206, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7787):
ACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCAC
Y
GGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAA
Celera SNP ID:            hCV27540675
SNP Position Transcript:  3906
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1220, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:7788):
GGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCTTACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTC
R
GTCCAATCCTTCCTAACAGTGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCT
Celera SNP ID:            hCV2421123
SNP Position Transcript:  4425
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1393, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:7789):
CAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAGGGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAAC
Y
AGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTT
Celera SNP ID:            hCV11968437
SNP Position Transcript:  2420
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 725, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7790):
CAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCA
Y
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
Celera SNP ID:            hCV27531312
SNP Position Transcript:  662
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 139, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7791):
TTTCCCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTG
Y
GACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCC
Celera SNP ID:            hCV27536723
SNP Position Transcript:  2726
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 827, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7792):
ATGCGGAGTTGATGCTTTGGGAATTGGCTCATGAAGGTTCTTCTCAAGGGTGCGAGCTCATCCCCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG
S
TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGGTTTCTACCCTCCCTTCACATTGGTGGCCAAGGGAGGAGCATTTCATTTGGAGTGATTATG
Celera SNP ID:            hCV8356118
SNP Position Transcript:  5225
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7793):
CTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCC
K
TGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGT
Celera SNP ID:            hCV27540245
SNP Position Transcript:  824
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 193, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:7794):
AGAAAGCACCTGTTTTTACAAATTCTTTTTTTTTTTTTTTTTTTTTGCTGGTGTCTGAGCTTCAGTATAAAAGACAAAACTTCCTGTTTGTGGAACAAAA
K
TTCGAAAGAAAAAACAAAACAAAAACACCCAGCCCTGTTCCAGGAGAATTTCAAGTTTTACAGGTTGAGCTTCAAGATGGTTTTTTTGGTTTTTTTTTTT
Celera SNP ID:            hCV8356119
SNP Position Transcript:  4851
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7795):
GAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAAT
Y
ACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCA
Celera SNP ID:            hCV8352014
SNP Position Transcript:  836
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 197, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:7796):
TGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCT
R
CCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAACTTGCTGTGCACCCCATGCCTGGGTCCC
Celera SNP ID:            hCV27862805
SNP Position Transcript:  1227
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 327, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:7797):
CACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCA
R
TGGGGACCAGGCATCCTGTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCC
Celera SNP ID:            hCV27862806
SNP Position Transcript:  1791
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 515, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:7798):
CGTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTG
Y
GGCCAGAGGCTGAGAATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGC
Celera SNP ID:            hCV27862807
SNP Position Transcript:  3647
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1134, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7799):
TGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAAT
R
ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCA
Celera SNP ID:            hCV27862808
SNP Position Transcript:  3832
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1195, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:7800):
ACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGT
K
GTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTGTCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGG
Celera SNP ID:            hCV27862809
SNP Position Transcript:  3951
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1235, (W,TGG)   (L,TTG)      



Context             (SEQ ID NO:7801):
CTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAGGTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCAC
R
GGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGCGAGGACCATGCCTGAAGCCAAGG
Celera SNP ID:            hCV16172280
SNP Position Transcript:  2737
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 830, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7802):
CTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTC
R
AGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGC
Celera SNP ID:            hCV11968441
SNP Position Transcript:  3351
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1035, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:7803):
TCTCCGGCTTGCGACACTTCACGGGCTATCGCATCGAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTCAGTGC
S
AGGACCATGCCTGAAGCCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGG
Celera SNP ID:            hCV16172281
SNP Position Transcript:  2815
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 856, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:7804):
CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAAATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTGAT
Y
GTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTG
Celera SNP ID:            hCV16172285
SNP Position Transcript:  2932
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 895, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:7805):
AGCCGAAGGAGCCCAATGGTCTGATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAGGAGCTGCATCTCTGCGTCTCCCGCAAGCACTTCGC
Y
CTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCA
Celera SNP ID:            hCV16172286
SNP Position Transcript:  3007
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 920, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7806):
TGCCTACCGTGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAGCCTCTGGAAAACTCAGGATTCTCACGACTCTACCATGTCCA
R
TGGAGTTCAGAGATCGTTCCTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCT
Celera SNP ID:            hCV8356120
SNP Position Transcript:  4545
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,29)   caucasian(A,8|G,32)   total(A,17|G,61)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7807):
GACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCAT
S
GAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACG
Celera SNP ID:            hCV2421316
SNP Position Transcript:  763
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 172, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:7808):
CACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACT
R
GTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAG
Celera SNP ID:            hCV2421318
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 186, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:7809):
CCCGCGTGGCGGTGAAGACGGTCAACGAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA
Y
GTGGTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTGGTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGC
Celera SNP ID:            hCV8356128
SNP Position Transcript:  3547
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,3)   caucasian(C,30|T,6)   total(C,51|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 1100, (H,CAC)   (H,CAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,136|C,623)      total(C,623|T,136) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 1100, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:7810):
CTCACCTGTCTTGCTTTCTGTTCATTTTCTCTTGTAGTGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTG
Y
CATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTG
Celera SNP ID:            hCV27531256
SNP Position Transcript:  489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 81, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:7811):
TGAGAAAGAGGCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTCAGTGCCAGTGATGTAGTGTTTCCATGCTCTGTGTA
Y
GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGCAATGCCAGGGACA
Celera SNP ID:            hCV8356129
SNP Position Transcript:  3325
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(T,45|C,714)      total(C,714|T,45) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1113, 1026, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:7812):
ATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCAACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCA
R
GGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGGGAACTACTC
Celera SNP ID:            hCV27531257
SNP Position Transcript:  1502
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 419, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:7813):
CTATACATTTCTGTTCATCTTAAGGTGGACTCGTTTGGTTACCAATTTAACTAGTCCTGCAGAGGATTTAACTGTGAACCTGGAGGGCAAGGGGTTTCCA
Y
AGTTGCTGCTCCTTTGGGGCAACGACGGTTTCAAACCAGGATTTTGTGTTTTTTCGTTCCCCCCACCCGCCCCCAGCAGATGGAAAGAAAGCACCTGTTT
Celera SNP ID:            hCV15831555
SNP Position Transcript:  4665
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1113, None   



Context             (SEQ ID NO:7814):
GTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAG
W
AGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGA
Celera SNP ID:            hCV27540722
SNP Position Transcript:  767
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 174, (K,AAG)   (X,TAG)      



Context             (SEQ ID NO:7815):
CCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCGGCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTGGCAG
M
GAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAG
Celera SNP ID:            hCV27540723
SNP Position Transcript:  3777
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1113, 1177, (E,GAG)   (A,GCG)      



Gene Number:                 159
Celera Gene:                 hCG22073 - 67000129321281
Celera Transcript:           hCT1950978 - 67000129321293
Public Transcript Accession: NM_004051
Celera Protein:              hCP1751037 - 197000069426265
Public Protein Accession:    NP_004042
Gene Symbol:                 BDH
Protein Name:                3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Celera Genomic Axis:         GA_x5YUV32VSN2(52396..114159)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:417):
TCTCCAGCCTCTTCTTGGAAATGGCCCTATCTAAAAACCACTTGGCCATTTTGAAATCTYTCTCAGGTCCTGATTCTGGGTTATGCTCAGGGCAGTCTCT
GAAGATTTCTCATCCTGTTCAGGCCGGTTCCTTGCTAATTTATGCCCACACATACCTGGCAGGGAGAGCTAAAGATGGAGTTGGTGGGAGCTGCCCTTTG
GCATCATTGATTTTTAATGTATTCCTAAGCAGCAGCATCTGTCCTTGATCCTCTGCTTGTCAGAAGGCCAAACTCACAGACATTTTAAGCTTAAAACAAA
CAGTTACAAAGCTGTTGAACTTTGCCTGTGCAAGGACAAACACAAAAACATCCCAAGGCCCACCCCCCGCYGACCCCCACTGTACTTGTCACACATATGT
GAGAATTTCCATTCTCAGCTAAAGGCAAGCATTGAAAGAATACACAGAAAGCCTGGAAAAGGTTTCCAGGGGTGTCAATACGCCCTGTCAACTGAGAATT
AAGAGGATCCGGCTGGTCACTTGCCTGGAGAGGATCCTGCATGCTGATAGTGCTGAGGCACCTGCCAGCTAAGAACCACCGGGAGGAACTGGGCCATTCT
AACACCCRTTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGA
CGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGCYGTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAG
GCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCATTCAAAAGGCTTCCTTGTGTTTGCTGGCTGCTTGATGAAGGACAAAGGCCATGATGG
GGTCAAGGAGCTGGACAGCCTAAACAGTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGC
TCGAGCCTGAAGGACCCTGAGAAAGGSATGTGGGGCCTCGTTAACAATGCYGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACA
AGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCTTTCTCCCCCTCATCCGAAGGGCCAAAGGCCGCGTCGTCAATATCAGCAG
CATGCTGGGCCGCATGGCCAACCCGGCCCGCTCCCCGTACTGCATCACCAAGTTCGGGGTAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCC
CTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTAYAGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGG
AGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCGCCAAGATGGAGACCTACTGCAGCAGTGGCTCCACAGACAC
GTCCCCTGTCATCGATGCTGTCACACACGCCCTGACCGCCACCACCCCCTACACCCGCTACCACCCCATGGACTACTACTGGTGGCTGCGAATGCAGATC
ATGACCCACTTGCCTGGAGCCATCTCCGACATGATCTACATCCGCTGAAGAGTCTCGCTGTGGCCTCTGTCAGGGATCCCTGGTGGAAGGGGAGGGGAGG
GAGGAACCCATATAGTCAACTCTTGATTATCCACGTGTGGATTATCCACCATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACT
TCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGMAGGCAGAGGCCTCTAAATCTCAGRGCAAACATGGTGAATCTATCTCTCCG
GAGATAATTTCATACAGAGATTTTAARAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTT
TTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTYATGTGTTCCYGCCACGGCTG
TGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGCACACACCAAG
TGCCCACTGGTACCTCTGCATGTCCATGGTGCTGTGTGACTGGCCAGCCAGCAGCCAGTGACTCAGAGCTGGCTGTATGGAGGGGGTGGGAATGTTTCTG
GAGATTTTTGTTTTTCCAGACACAGTCTTGCTCAGTCCCCTAGGCTGGAGTGCAATGGCACCATCTCCGCTCACTGCAACCT

Protein Sequence    (SEQ ID NO:1114):
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELD
SLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRM
ANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR


SNP Information

Context             (SEQ ID NO:7816):
CATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGG
M
AGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACA
Celera SNP ID:            hCV2066135
SNP Position Transcript:  1850
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7817):
TAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTA
Y
AGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCG
Celera SNP ID:            hCV25996763
SNP Position Transcript:  1360
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1114, 248, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1114, 248, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7818):
TCCGGCTGGTCACTTGCCTGGAGAGGATCCTGCATGCTGATAGTGCTGAGGCACCTGCCAGCTAAGAACCACCGGGAGGAACTGGGCCATTCTAACACCC
R
TTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACT
Celera SNP ID:            hCV26000025
SNP Position Transcript:  608
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,24)   total(A,1|G,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1114, None



Context             (SEQ ID NO:7819):
TCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGGCATGTGGGGCCTCGTTAACAATGC
Y
GGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCT
Celera SNP ID:            hCV25994627
SNP Position Transcript:  1051
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1114, 145, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7820):
AACTCACAGACATTTTAAGCTTAAAACAAACAGTTACAAAGCTGTTGAACTTTGCCTGTGCAAGGACAAACACAAAAACATCCCAAGGCCCACCCCCCGC
Y
GACCCCCACTGTACTTGTCACACATATGTGAGAATTTCCATTCTCAGCTAAAGGCAAGCATTGAAAGAATACACAGAAAGCCTGGAAAAGGTTTCCAGGG
Celera SNP ID:            hCV3214430
SNP Position Transcript:  371
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,6|C,6)      total(C,6|T,6) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7821):
TGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGT
Y
ATGTGTTCCTGCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCA
Celera SNP ID:            hCV29242816
SNP Position Transcript:  2080
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7822):
TTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAA
R
AAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAG
Celera SNP ID:            hCV9712068
SNP Position Transcript:  1927
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7823):
TTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAG
R
GCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAG
Celera SNP ID:            hCV9712078
SNP Position Transcript:  1874
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7824):
CCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGC
Y
GTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCA
Celera SNP ID:            hCV25997213
SNP Position Transcript:  743
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,32)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1114, 43, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:7825):
TCTCCAGCCTCTTCTTGGAAATGGCCCTATCTAAAAACCACTTGGCCATTTTGAAATCT
Y
TCTCAGGTCCTGATTCTGGGTTATGCTCAGGGCAGTCTCTGAAGATTTCTCATCCTGTTCAGGCCGGTTCCTTGCTAATTTATGCCCACACATACCTGGC
Celera SNP ID:            hCV29196254
SNP Position Transcript:  60
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1114, None   



Context             (SEQ ID NO:7826):
GTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGG
S
ATGTGGGGCCTCGTTAACAATGCCGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGG
Celera SNP ID:            hCV2066142
SNP Position Transcript:  1027
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,34|G,2)   total(C,70|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1114, 137, (G,GGC)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,7)   total(G,1|C,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1114, 137, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:7827):
GGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTTATGTGTTCC
Y
GCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGC
Celera SNP ID:            hCV2066134
SNP Position Transcript:  2090
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1114, None   



Gene Number:                 159
Celera Gene:                 hCG22073 - 67000129321281
Celera Transcript:           hCT2287936 - 67000129321304
Public Transcript Accession: NM_004051
Celera Protein:              hCP1883002 - 197000069426266
Public Protein Accession:    NP_004042
Gene Symbol:                 BDH
Protein Name:                3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Celera Genomic Axis:         GA_x5YUV32VSN2(70161..114159)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:418):
CCCCAGCGCGCGCTTCGCGTGTAGAAGCGTCCGGGTGGCGGAGGCCGCAGGCCGCAGGAGTGCTGGTGGAGGGGCTTCCAGAAAGACCCTGCGGCAGCGC
CCCCCCTCGGCTCTCCCCGCAGGAGAGCGGGCACCTGCGCGGCGCCGGGYGAAGGCGAGAGCCTCGGCGAGCCCTCTGCAGCGGAGCCCCCTGCCCATTT
GGTTTTGGTCAGCCTGGAAATCTGCCTGTAGTCAGCTGATGCAGAGTCACCCTGCAGTTCCTACTTTGAGGGGTTGCAGAAGCACATATTTCACTATGGA
GGGCCGCCTGCAGGCCTCGCGCTGACAGGATCTTTTGTGACGCTGCAAATGTCCTGAACCACCGGGAGGAACTGGGCCATTCTAACACCCRTTGCTACCA
TGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGG
TTCTACTTCCTTTATCCCGATTGGCYGTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTT
GGGTTCTCATTGGCCAAGCATCTGCATTCAAAAGGCTTCCTTGTGTTTGCTGGCTGCTTGATGAAGGACAAAGGCCATGATGGGGTCAAGGAGCTGGACA
GCCTAAACAGTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCC
TGAGAAAGGSATGTGGGGCCTCGTTAACAATGCYGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTG
AACCTTTGGGGCACAGTGCGGATGACGAAATCCTTTCTCCCCCTCATCCGAAGGGCCAAAGGCCGCGTCGTCAATATCAGCAGCATGCTGGGCCGCATGG
CCAACCCGGCCCGCTCCCCGTACTGCATCACCAAGTTCGGGGTAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAG
CGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTAYAGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTC
GTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCGCCAAGATGGAGACCTACTGCAGCAGTGGCTCCACAGACACGTCCCCTGTCATCGATG
CTGTCACACACGCCCTGACCGCCACCACCCCCTACACCCGCTACCACCCCATGGACTACTACTGGTGGCTGCGAATGCAGATCATGACCCACTTGCCTGG
AGCCATCTCCGACATGATCTACATCCGCTGAAGAGTCTCGCTGTGGCCTCTGTCAGGGATCCCTGGTGGAAGGGGAGGGGAGGGAGGAACCCATATAGTC
AACTCTTGATTATCCACGTGTGGATTATCCACCATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTG
ACTTGGGCCTTCACAAACAGGGTGTGGAGTGGMAGGCAGAGGCCTCTAAATCTCAGRGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAG
AGATTTTAARAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAA
GCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTYATGTGTTCCYGCCACGGCTGTGGAAATACTTCACATT
TGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGCACACACCAAGTGCCCACTGGTACCTCT
GCATGTCCATGGTGCTGTGTGACTGGCCAGCCAGCAGCCAGTGACTCAGAGCTGGCTGTATGGAGGGGGTGGGAATGTTTCTGGAGATTTTTGTTTTTCC
AGACACAGTCTTGCTCAGTCCCCTAGGCTGGAGTGCAATGGCACCATCTCCGCTCACTGCAACCT

Protein Sequence    (SEQ ID NO:1115):
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELD
SLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRM
ANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR


SNP Information

Context             (SEQ ID NO:7828):
CATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGG
M
AGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACA
Celera SNP ID:            hCV2066135
SNP Position Transcript:  1633
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1115, None   



Context             (SEQ ID NO:7829):
GGCCGCAGGAGTGCTGGTGGAGGGGCTTCCAGAAAGACCCTGCGGCAGCGCCCCCCCTCGGCTCTCCCCGCAGGAGAGCGGGCACCTGCGCGGCGCCGGG
Y
GAAGGCGAGAGCCTCGGCGAGCCCTCTGCAGCGGAGCCCCCTGCCCATTTGGTTTTGGTCAGCCTGGAAATCTGCCTGTAGTCAGCTGATGCAGAGTCAC
Celera SNP ID:            hCV29196248
SNP Position Transcript:  150
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1115, None   



Context             (SEQ ID NO:7830):
TAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTA
Y
AGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCG
Celera SNP ID:            hCV25996763
SNP Position Transcript:  1143
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1115, 248, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1115, 248, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7831):
TCACTATGGAGGGCCGCCTGCAGGCCTCGCGCTGACAGGATCTTTTGTGACGCTGCAAATGTCCTGAACCACCGGGAGGAACTGGGCCATTCTAACACCC
R
TTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACT
Celera SNP ID:            hCV26000025
SNP Position Transcript:  391
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,24)   total(A,1|G,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1115, None



Context             (SEQ ID NO:7832):
TCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGGCATGTGGGGCCTCGTTAACAATGC
Y
GGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCT
Celera SNP ID:            hCV25994627
SNP Position Transcript:  834
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1115, 145, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7833):
TGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGT
Y
ATGTGTTCCTGCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCA
Celera SNP ID:            hCV29242816
SNP Position Transcript:  1863
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1115, None   



Context             (SEQ ID NO:7834):
TTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAA
R
AAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAG
Celera SNP ID:            hCV9712068
SNP Position Transcript:  1710
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1115, None   



Context             (SEQ ID NO:7835):
TTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAG
R
GCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAG
Celera SNP ID:            hCV9712078
SNP Position Transcript:  1657
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1115, None   



Context             (SEQ ID NO:7836):
CCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGC
Y
GTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCA
Celera SNP ID:            hCV25997213
SNP Position Transcript:  526
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,32)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1115, 43, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:7837):
GTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGG
S
ATGTGGGGCCTCGTTAACAATGCCGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGG
Celera SNP ID:            hCV2066142
SNP Position Transcript:  810
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,34|G,2)   total(C,70|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1115, 137, (G,GGC)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,7)   total(G,1|C,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1115, 137, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:7838):
GGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTTATGTGTTCC
Y
GCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGC
Celera SNP ID:            hCV2066134
SNP Position Transcript:  1873
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1115, None   



Gene Number:                 159
Celera Gene:                 hCG22073 - 67000129321281
Celera Transcript:           hCT13166 - 67000129321282
Public Transcript Accession: NM_004051
Celera Protein:              hCP39964 - 197000069426264
Public Protein Accession:    NP_004042
Gene Symbol:                 BDH
Protein Name:                3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Celera Genomic Axis:         GA_x5YUV32VSN2(70005..114159)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:419):
GGATCTGGCGCCCGGCTTAGGGGCGAGACGGCCGCACCGGGAGCCTAGCGATCAGGGCACCTTGGGCGGGAGGAGCGCCAGCCGGGCACCCAGCGCGGAG
GAGGCGGCTCGGCGGCCCCCCGACAGCCACGCCGCCGTGAGCCCCGCCCAGCGTAGCCCCAGCGCGCGCTTCGCGTGTAGAAGCGTCCGGGTGGCGGAGG
CCGCAGGCCGCAGGAGTGCTGGTGGAGGGGCTTCCAGAAAGACCCTGCGGCAGCGCCCCCCCTCGGCTCTCCCCGCAGGAGAGCGGGCACCTGCGCGGCG
CCGGGYGAAGGCGAGAGCCTCGGCGAGCCCTCTGCAGCGGAGCCCCCTGCCCATTTGGTTTTGGAACCACCGGGAGGAACTGGGCCATTCTAACACCCRT
TGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTA
TTGCTTGGTTCTACTTCCTTTATCCCGATTGGCYGTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACT
CTGGATTTGGGTTCTCATTGGCCAAGCATCTGCATTCAAAAGGCTTCCTTGTGTTTGCTGGCTGCTTGATGAAGGACAAAGGCCATGATGGGGTCAAGGA
GCTGGACAGCCTAAACAGTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTG
AAGGACCCTGAGAAAGGSATGTGGGGCCTCGTTAACAATGCYGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGG
CAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCTTTCTCCCCCTCATCCGAAGGGCCAAAGGCCGCGTCGTCAATATCAGCAGCATGCTGGG
CCGCATGGCCAACCCGGCCCGCTCCCCGTACTGCATCACCAAGTTCGGGGTAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTG
AAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTAYAGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGC
CTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCGCCAAGATGGAGACCTACTGCAGCAGTGGCTCCACAGACACGTCCCCTGT
CATCGATGCTGTCACACACGCCCTGACCGCCACCACCCCCTACACCCGCTACCACCCCATGGACTACTACTGGTGGCTGCGAATGCAGATCATGACCCAC
TTGCCTGGAGCCATCTCCGACATGATCTACATCCGCTGAAGAGTCTCGCTGTGGCCTCTGTCAGGGATCCCTGGTGGAAGGGGAGGGGAGGGAGGAACCC
ATATAGTCAACTCTTGATTATCCACGTGTGGATTATCCACCATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCAT
AGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGMAGGCAGAGGCCTCTAAATCTCAGRGCAAACATGGTGAATCTATCTCTCCGGAGATAATT
TCATACAGAGATTTTAARAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTG
TAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTYATGTGTTCCYGCCACGGCTGTGGAAATAC
TTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGCACACACCAAGTGCCCACTG
GTACCTCTGCATGTCCATGGTGCTGTGTGACTGGCCAGCCAGCAGCCAGTGACTCAGAGCTGGCTGTATGGAGGGGGTGGGAATGTTTCTGGAGATTTTT
GTTTTTCCAGACACAGTCTTGCTCAGTCCCCTAGGCTGGAGTGCAATGGCACCATCTCCGCTCACTGCAACCT

Protein Sequence    (SEQ ID NO:1116):
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELD
SLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRM
ANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR


SNP Information

Context             (SEQ ID NO:7839):
CATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGG
M
AGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACA
Celera SNP ID:            hCV2066135
SNP Position Transcript:  1641
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1116, None   



Context             (SEQ ID NO:7840):
GGCCGCAGGAGTGCTGGTGGAGGGGCTTCCAGAAAGACCCTGCGGCAGCGCCCCCCCTCGGCTCTCCCCGCAGGAGAGCGGGCACCTGCGCGGCGCCGGG
Y
GAAGGCGAGAGCCTCGGCGAGCCCTCTGCAGCGGAGCCCCCTGCCCATTTGGTTTTGGAACCACCGGGAGGAACTGGGCCATTCTAACACCCGTTGCTAC
Celera SNP ID:            hCV29196248
SNP Position Transcript:  306
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1116, None   



Context             (SEQ ID NO:7841):
TAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTA
Y
AGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCG
Celera SNP ID:            hCV25996763
SNP Position Transcript:  1151
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1116, 248, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1116, 248, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7842):
CGCCGGGTGAAGGCGAGAGCCTCGGCGAGCCCTCTGCAGCGGAGCCCCCTGCCCATTTGGTTTTGGAACCACCGGGAGGAACTGGGCCATTCTAACACCC
R
TTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACT
Celera SNP ID:            hCV26000025
SNP Position Transcript:  399
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,24)   total(A,1|G,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1116, None



Context             (SEQ ID NO:7843):
TCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGGCATGTGGGGCCTCGTTAACAATGC
Y
GGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCT
Celera SNP ID:            hCV25994627
SNP Position Transcript:  842
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1116, 145, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7844):
TGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGT
Y
ATGTGTTCCTGCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCA
Celera SNP ID:            hCV29242816
SNP Position Transcript:  1871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1116, None   



Context             (SEQ ID NO:7845):
TTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAA
R
AAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAG
Celera SNP ID:            hCV9712068
SNP Position Transcript:  1718
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1116, None   



Context             (SEQ ID NO:7846):
TTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAG
R
GCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAG
Celera SNP ID:            hCV9712078
SNP Position Transcript:  1665
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1116, None   



Context             (SEQ ID NO:7847):
CCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGC
Y
GTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCA
Celera SNP ID:            hCV25997213
SNP Position Transcript:  534
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,32)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1116, 43, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:7848):
GTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGG
S
ATGTGGGGCCTCGTTAACAATGCCGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGG
Celera SNP ID:            hCV2066142
SNP Position Transcript:  818
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,34|G,2)   total(C,70|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1116, 137, (G,GGC)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,7)   total(G,1|C,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1116, 137, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:7849):
GGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTTATGTGTTCC
Y
GCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGC
Celera SNP ID:            hCV2066134
SNP Position Transcript:  1881
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1116, None   



Gene Number:                 159
Celera Gene:                 hCG22073 - 67000129321281
Celera Transcript:           hCT2287934 - 67000129321316
Public Transcript Accession: NM_004051
Celera Protein:              hCP1883003 - 197000069426267
Public Protein Accession:    NP_004042
Gene Symbol:                 BDH
Protein Name:                3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Celera Genomic Axis:         GA_x5YUV32VSN2(52836..114159)
Chromosome:                  Chr3
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:420):
TACACAGAAAGCCTGGAAAAGGTTTCCAGGGGTGTCAATACGCCCTGTCAACTGAGAATTAAGAGGATCCGGCTGGTCACTTGCCTGGAGAGGATCCTGC
ATGCTGATAGTGCTGAGGCACCTGCCAGCTAAGGTGAGAGACAGCTGAACTTGAACATGTGGGCTGTCACTGARAGCGGTCAGCAGAAGAAAATTTGAGC
CATGGAACCACCGGGAGGAACTGGGCCATTCTAACACCCRTTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCC
TAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGCYGTCGGACTTATGCCAGTGCGGCGGA
GCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCATTCAAAAGGCTTCCTTGTGTTTGCT
GGCTGCTTGATGAAGGACAAAGGCCATGATGGGGTCAAGGAGCTGGACAGCCTAAACAGTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCG
AAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGGSATGTGGGGCCTCGTTAACAATGCYGGCATCTCAACGTTCGG
GGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCTTTCTCCCCCTCATCCGA
AGGGCCAAAGGCCGCGTCGTCAATATCAGCAGCATGCTGGGCCGCATGGCCAACCCGGCCCGCTCCCCGTACTGCATCACCAAGTTCGGGGTAGAGGCTT
TCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTAYAGCCCTGA
GAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCGCCAAGATG
GAGACCTACTGCAGCAGTGGCTCCACAGACACGTCCCCTGTCATCGATGCTGTCACACACGCCCTGACCGCCACCACCCCCTACACCCGCTACCACCCCA
TGGACTACTACTGGTGGCTGCGAATGCAGATCATGACCCACTTGCCTGGAGCCATCTCCGACATGATCTACATCCGCTGAAGAGTCTCGCTGTGGCCTCT
GTCAGGGATCCCTGGTGGAAGGGGAGGGGAGGGAGGAACCCATATAGTCAACTCTTGATTATCCACGTGTGGATTATCCACCATGCCAGGAAGACCCATA
ACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGMAGGCAGAGGCCTCTAAAT
CTCAGRGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAARAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTA
AGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAA
ATAGTGCCAGTYATGTGTTCCYGCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAAC
TCTGTGTCCTCATCTGGGCAGCACACACCAAGTGCCCACTGGTACCTCTGCATGTCCATGGTGCTGTGTGACTGGCCAGCCAGCAGCCAGTGACTCAGAG
CTGGCTGTATGGAGGGGGTGGGAATGTTTCTGGAGATTTTTGTTTTTCCAGACACAGTCTTGCTCAGTCCCCTAGGCTGGAGTGCAATGGCACCATCTCC
GCTCACTGCAACCT

Protein Sequence    (SEQ ID NO:1117):
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELD
SLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRM
ANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR


SNP Information

Context             (SEQ ID NO:7850):
CATGCCAGGAAGACCCATAACTGGTTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGG
M
AGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACA
Celera SNP ID:            hCV2066135
SNP Position Transcript:  1482
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|C,9)      total(A,1|C,9) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1117, None   



Context             (SEQ ID NO:7851):
TAGAGGCTTTCTCGGACTGCCTGCGCTATGAGATGTACCCCCTGGGCGTGAAGGTCAGCGTGGTGGAGCCCGGCAACTTCATCGCTGCCACCAGCCTTTA
Y
AGCCCTGAGAGCATTCAGGCCATCGCCAAGAAGATGTGGGAGGAGCTGCCTGAGGTCGTGCGCAAGGACTACGGCAAGAAGTACTTTGATGAAAAGATCG
Celera SNP ID:            hCV25996763
SNP Position Transcript:  992
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,40)   total(C,73|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1117, 248, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,34)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1117, 248, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:7852):
GACAGCTGAACTTGAACATGTGGGCTGTCACTGAGAGCGGTCAGCAGAAGAAAATTTGAGCCATGGAACCACCGGGAGGAACTGGGCCATTCTAACACCC
R
TTGCTACCATGCTGGCCACCCGCCTCTCCAGACCCCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACT
Celera SNP ID:            hCV26000025
SNP Position Transcript:  240
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,24)   total(A,1|G,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1117, None



Context             (SEQ ID NO:7853):
TCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGGCATGTGGGGCCTCGTTAACAATGC
Y
GGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGGGCACAGTGCGGATGACGAAATCCT
Celera SNP ID:            hCV25994627
SNP Position Transcript:  683
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1117, 145, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:7854):
TGGTCACTTGCCTGGAGAGGATCCTGCATGCTGATAGTGCTGAGGCACCTGCCAGCTAAGGTGAGAGACAGCTGAACTTGAACATGTGGGCTGTCACTGA
R
AGCGGTCAGCAGAAGAAAATTTGAGCCATGGAACCACCGGGAGGAACTGGGCCATTCTAACACCCGTTGCTACCATGCTGGCCACCCGCCTCTCCAGACC
Celera SNP ID:            hCV26673498
SNP Position Transcript:  174
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1117, None   



Context             (SEQ ID NO:7855):
TGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGT
Y
ATGTGTTCCTGCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCA
Celera SNP ID:            hCV29242816
SNP Position Transcript:  1712
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1117, None   



Context             (SEQ ID NO:7856):
TTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAGGGCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAA
R
AAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAGTCTCATGAATGAAAAGGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAG
Celera SNP ID:            hCV9712068
SNP Position Transcript:  1559
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1117, None   



Context             (SEQ ID NO:7857):
TTTTAACACTAACTAGAGGGAATGACTTCTTTGCATAGTGAGTGACTTGGGCCTTCACAAACAGGGTGTGGAGTGGCAGGCAGAGGCCTCTAAATCTCAG
R
GCAAACATGGTGAATCTATCTCTCCGGAGATAATTTCATACAGAGATTTTAAGAAAACATCTTTATATTAAAAACAGATCTCATTTGATCCTTAAGCCAG
Celera SNP ID:            hCV9712078
SNP Position Transcript:  1506
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1117, None   



Context             (SEQ ID NO:7858):
CCTGTCACGGCTCCCAGGAAAAACCCTAAGTGCCTGTGATAGAGAAAATGGAGCAAGACGCCCACTATTGCTTGGTTCTACTTCCTTTATCCCGATTGGC
Y
GTCGGACTTATGCCAGTGCGGCGGAGCCGGTTGGCAGCAAAGCTGTCCTGGTCACAGGCTGTGACTCTGGATTTGGGTTCTCATTGGCCAAGCATCTGCA
Celera SNP ID:            hCV25997213
SNP Position Transcript:  375
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,32)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1117, 43, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:7859):
GTGACCGATTGAGAACCGTCCAGCTCAATGTCTGCAGCAGCGAAGAGGTGGAGAAAGTGGTGGAGATTGTCCGCTCGAGCCTGAAGGACCCTGAGAAAGG
S
ATGTGGGGCCTCGTTAACAATGCCGGCATCTCAACGTTCGGGGAGGTGGAGTTCACCAGCCTGGAGACCTACAAGCAGGTGGCAGAAGTGAACCTTTGGG
Celera SNP ID:            hCV2066142
SNP Position Transcript:  659
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,34|G,2)   total(C,70|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1117, 137, (G,GGC)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|C,7)   total(G,1|C,7) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1117, 137, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:7860):
GGACAGGTTTTTTTCTTTTGTAAATGAAGCATTTGCAGCTTAAAGAGGATGCATGAAATAACCCTTTTATCGCTTATAAATAGTGCCAGTTATGTGTTCC
Y
GCCACGGCTGTGGAAATACTTCACATTTGCATTCCAGGACTGTTTTGGATCCATTTGCCCGAGAATCTTCTGACTAACTCTGTGTCCTCATCTGGGCAGC
Celera SNP ID:            hCV2066134
SNP Position Transcript:  1722
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1117, None   



Gene Number:                 160
Celera Gene:                 hCG22332 - 83000099478471
Celera Transcript:           hCT13425 - 83000099478472
Public Transcript Accession: NM_001756
Celera Protein:              hCP39821 - 197000069390903
Public Protein Accession:    NP_001747
Gene Symbol:                 SERPINA6
Protein Name:                serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6;CBG
Celera Genomic Axis:         GA_x5YUV32W0QP(41578895..41598007)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:421):
AYCCACCGCAGGCTTACTGTACACATGCTAGGGTCCAGGACAGCAGGACCAAGCCAGCAGAAACAGCCTGAGCCCACCGCAGACTGGCCTGGCTATACTG
GACAATGCCACTCCTCCTGTACACCTGTCTTCTCTGGCTGCCCACCAGCGGCCTCTGGACCGTCCAGGCCATGGATCCTAACGCTGCTTATGTGAACATG
AGTAACCATCACCGGGGCCTGGCTTCAGCCAACGTTGACTTTGCCTTCAGCCTGTATAAGCACCTAGTGGCCTTGAGTCCCAAAAAGAACATTTTCATCT
CCCCTGTGAGCATCTCCATGGCCTTAGCTATGCTGTCCCTGGGCACCTGTGGCCACACACGGGCCCAGCTTCTCCAGGGCCTGGGTTTCAACCTCACTGA
GAGGTCTGAGACTGAGATCCACCAGGGTTTCCAGCACCTGCACCAACTCTTTGCAAAGTCAGACACCAGCTTAGAAATGACYATGGGCAATGCCTTGTTT
CTTGATGGCAGCCTGGAGTTGCTGGAGTCATTCTCAGCAGACATCAAGCACTACTATGAGTCAGAGGTCTTGGCTATGAATTTCCAGGACTGGGCAACAG
CCAGCAGACAGATCAACAGCTATGTCAAGAATAAGACACAGGGGAAAATTGTCGACTTGTTTTCAGGGCTGGATAGCCCAGCCATCCTCGTCCTGGTCAA
CTATATCTTCTTCAAAGGCACATGGACACAGCCCTTTGACCTGGCAAGCACCAGGGAGGAGAACTTCTATGTGGACGAGACAACTGTGGTGAAGGTGCCC
ATGATGTTGCAGTCGAGCACCATCAGTTACCTTCATGACKCRGAGCTCCCCTGCCAGCTGGTGCAGATGAACTACGTGGGCAATGGGACTGTCTTCTTCA
TCCTTCCGGACAAGGGGAAGATGAACACAGTCATCGCTGCACTGAGCCGGGACACGATTAACAGGTGGTCCGCAGGCCTGACCAGCAGCCAGGTGGACCT
GTACATTCCAAAGGTCACCATCTCTGGAGTCTATGACCTYGGAGATGTGCTGGAGGAAATGGGCATTGCAGACTTGTTCACCAACCAGGCAAATTTCTCA
CGCATCACCCAGGAYGCCCAGCTGAAGTCATCAAAGGTGGTCCATAAAGCTGTGCTGCAACTCAATGAGGAGGGTGTGGACACAGCTGGCTCCACTGGGG
TCACCCTAAACCTGACGTCCAAGCCTATCATCTTGCGTTTCAACCAGCCCTTCATCATCATGATCTTCGACCACTTCACCTGGAGCAGCCTTTTCCTRGC
GAGGGTTATGAACCCAGTGTAAGAGACCACCCACCCAGAGCCTCAGCACTGTCTGACTTTGGGAACCAGGGATCCCACAGAAATGTTTTGGAGAGCGGGA
GGTTTCCCCCAATCTCCTCCAAGTTCTTCTCCCYCCAACCAGAGTTGTGTCTAACTTTAGGCATCTTTTAATAAATGTCATTGCGACTCTGATGA

Protein Sequence    (SEQ ID NO:1118):
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTER
SETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNFQDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNY
IFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLY
IPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLAR
VMNPV


SNP Information

Context             (SEQ ID NO:7861):
TGGCAAGCACCAGGGAGGAGAACTTCTATGTGGACGAGACAACTGTGGTGAAGGTGCCCATGATGTTGCAGTCGAGCACCATCAGTTACCTTCATGACTC
R
GAGCTCCCCTGCCAGCTGGTGCAGATGAACTACGTGGGCAATGGGACTGTCTTCTTCATCCTTCCGGACAAGGGGAAGATGAACACAGTCATCGCTGCAC
Celera SNP ID:            hCV9841650
SNP Position Transcript:  842
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,3)   caucasian(A,4|G,12)   total(A,5|G,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,12)   caucasian(A,8|G,20)   total(A,16|G,32)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (S,TCA)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,4)      total(G,4|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:7862):
TGGGTTTCAACCTCACTGAGAGGTCTGAGACTGAGATCCACCAGGGTTTCCAGCACCTGCACCAACTCTTTGCAAAGTCAGACACCAGCTTAGAAATGAC
Y
ATGGGCAATGCCTTGTTTCTTGATGGCAGCCTGGAGTTGCTGGAGTCATTCTCAGCAGACATCAAGCACTACTATGAGTCAGAGGTCTTGGCTATGAATT
Celera SNP ID:            hCV1179217
SNP Position Transcript:  482
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,29|T,5)   total(C,58|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 126, (T,ACC)   (T,ACT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,1)   caucasian(C,2|T,2)   total(C,5|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 126, (T,ACC)   (T,ACT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 126, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:7863):
CCTGGCAAGCACCAGGGAGGAGAACTTCTATGTGGACGAGACAACTGTGGTGAAGGTGCCCATGATGTTGCAGTCGAGCACCATCAGTTACCTTCATGAC
K
CGGAGCTCCCCTGCCAGCTGGTGCAGATGAACTACGTGGGCAATGGGACTGTCTTCTTCATCCTTCCGGACAAGGGGAAGATGAACACAGTCATCGCTGC
Celera SNP ID:            hCV22273282
SNP Position Transcript:  840
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,1)   caucasian(G,5|T,11)   total(G,8|T,12)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (A,GCG)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,5|T,17)   caucasian(G,15|T,15)   total(G,20|T,32)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (A,GCG)   (S,TCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1118, 246, (A,GCG)   (S,TCG)      



Context             (SEQ ID NO:7864):
A
Y
CCACCGCAGGCTTACTGTACACATGCTAGGGTCCAGGACAGCAGGACCAAGCCAGCAGAAACAGCCTGAGCCCACCGCAGACTGGCCTGGCTATACTGGA
Celera SNP ID:            hCV27852385
SNP Position Transcript:  2
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,2|T,36)   total(C,2|T,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1118, None



Context             (SEQ ID NO:7865):
GGGTCACCCTAAACCTGACGTCCAAGCCTATCATCTTGCGTTTCAACCAGCCCTTCATCATCATGATCTTCGACCACTTCACCTGGAGCAGCCTTTTCCT
R
GCGAGGGTTATGAACCCAGTGTAAGAGACCACCCACCCAGAGCCTCAGCACTGTCTGACTTTGGGAACCAGGGATCCCACAGAAATGTTTTGGAGAGCGG
Celera SNP ID:            hCV11665556
SNP Position Transcript:  1298
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 398, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:7866):
CACTGAGCCGGGACACGATTAACAGGTGGTCCGCAGGCCTGACCAGCAGCCAGGTGGACCTGTACATTCCAAAGGTCACCATCTCTGGAGTCTATGACCT
Y
GGAGATGTGCTGGAGGAAATGGGCATTGCAGACTTGTTCACCAACCAGGCAAATTTCTCACGCATCACCCAGGACGCCCAGCTGAAGTCATCAAAGGTGG
Celera SNP ID:            hCV7586204
SNP Position Transcript:  1040
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,9)   caucasian(C,30|T,6)   total(C,45|T,15)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 312, (L,CTC)   (L,CTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,2)   caucasian(C,14|T,6)   total(C,16|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 312, (L,CTC)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,201|C,1294)   total(C,1294|T,201)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 312, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:7867):
CCCAGAGCCTCAGCACTGTCTGACTTTGGGAACCAGGGATCCCACAGAAATGTTTTGGAGAGCGGGAGGTTTCCCCCAATCTCCTCCAAGTTCTTCTCCC
Y
CCAACCAGAGTTGTGTCTAACTTTAGGCATCTTTTAATAAATGTCATTGCGACTCTGATGA
Celera SNP ID:            hCV7586199
SNP Position Transcript:  1434
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1118, None   



Context             (SEQ ID NO:7868):
TCACCATCTCTGGAGTCTATGACCTCGGAGATGTGCTGGAGGAAATGGGCATTGCAGACTTGTTCACCAACCAGGCAAATTTCTCACGCATCACCCAGGA
Y
GCCCAGCTGAAGTCATCAAAGGTGGTCCATAAAGCTGTGCTGCAACTCAATGAGGAGGGTGTGGACACAGCTGGCTCCACTGGGGTCACCCTAAACCTGA
Celera SNP ID:            hCV16171393
SNP Position Transcript:  1115
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,2)   caucasian(C,20|T,4)   total(C,32|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 337, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,2)   caucasian(C,18|T,4)   total(C,26|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1118, 337, (D,GAC)   (D,GAT)   



Gene Number:                 161
Celera Gene:                 hCG22639 - 103000085279807
Celera Transcript:           hCT13736 - 103000085279808
Public Transcript Accession: NM_015102
Celera Protein:              hCP40107 - 197000064927059
Public Protein Accession:    NP_055917
Gene Symbol:                 NPHP4
Protein Name:                nephronophthisis 4;DKFZp434K1235;KIAA0673;SLSN4
Celera Genomic Axis:         GA_x5YUV32VY08(2607053..2737821)
Chromosome:                  Chr1
OMIM number:                 601142
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2;KCNAB2


Transcript Sequence (SEQ ID NO:422):
GGTACCCCGGCTGCTGCTAMTGCCGCAGGACGCGGTGCAGCAGTGGGGTCTTTGCATCCTGGGAGCAGCAGCAGATCATCCGGGAAGCCCACGGGACCCT
CAGGCGGGCAGGATGAACGACTGGCACAGGATCTTCACCCAAAACGTGCTTGTCCCTCCCCACCCACAGAGAGCGCGCCAGCCTTGGAAGGAATCCACGG
CATTCCAGTGTGTCCTCAAGTGGCTGGACGGACCGGTAATTAGGCAGGGCGTGCTGGAGGTACTGTCAGAGGTTGAATGCCATCTGCGAGTGTCTTTCTT
TGATGTCACCTACCGGCACTTCTTTGGGAGGACGTGGAAAACCACAGTGAAGCCGACGAAGAGACCGCCGTCCAGGATCGTCTTTAATGAGCCCTTGTAT
TTTCACACATCCCTAAACCACCCTCATATCGTGGCTGTGGTGGAAGTGGTCGCTGAGGGCAAGAAACGGGATGGGAGCCTCCAGACATTGTCCTGTGGGT
TTGGAATTCTTCGGATCTTCAGCAACCAGCCGGACTCTCCTATCTCTGCTTCCCAGGACAAAAGGTTGCGGCTGTACCATGGCACCCCCAGAGCCCTCCT
GCACCCGCTTCTCCAGGACCCCGCAGAGCAAAACAGACACATGACCCTCATTGAGAACTGCAGCCTGCAGTACACGCTGAAGCCACACCCGGCCCTGGAG
CCTGCGTTCCACCTTCTTCCTGAGAACCTTCTGGTGTCTGGTCTGCAGCAGATACCTGGCCTGCTTCCAGCTCATGGAGAATCCGGCGACGCTCTCCGAA
AGCCTCGCCTCCAGAAGCCCATCACGGGGCACTTGGATGACTTATTCTTCACCCTGTACCCCTCCCTGGAGAAGTTTGAGGAAGAGCTGCTGGAGCTCCA
CGTCCAGGACCACTTCCAGGAGGGATGTGGCCCACTGGACGGTGGTGCCCTGGAGATCCTGGAGCGGCGCCTGCGTGTGGGCGTGCACAATGGTCTGGGC
TTCGTGCAGAGGCCGCAGGTCGTTGTACTGGTGCCTGAGATGGATGTGGCCTTGACGCGCTCAGCTAGCTTCAGCAGGAAAGTGGTCTCCTCTTCCAAGA
CCAGCTCCGGGAGCCAAGCTCTGGTTTTGAGAAGCCGCCTCCGCCTCCCAGAGATGGTCGGCCACCCTGCATTTGCGGTCATCTTCCAGCTGGAGTACGT
GTTCAGCAGCCCTGCAGGAGTGGACGGCAATGCAGCTTCGGTCACCTCTCTGTCCAAMCTGGCATGCATGCACATGGTCCGCTGGGCTGTTTGGAACCCC
TTGCTGGAAGCTGATTCTGGAAGGGTGACCCTGCCTCTGCAGGGTGGGATCCAGCCCAACCCCTCGCACTGTCTGGTCTACAAGGTACCCTCAGCCAGCA
TGAGCTCTGAAGAGGTGAAGCAGGTGGAGTCGGGTACACTCCGGTTCCAGTTCTCGCTGGGCTCAGAAGAACACCTGGATGCACCCACGGAGCCTGTCAG
TGGCCCCAAAGTGGAGCGGCGGCCTTCCAGGAAACCACCCACGTCCCCTTCGAGCCCGCCAGCGCCAGTACCTCGAGTTCTCGCTGCCCCGCAGAACTCA
CCTGTGGGACCAGGGTTGTCAATTTCCCAGCTGGCGGCCTCCCCGCGGTCCCCRACTCAGCACTGCTTGGCCAGGCCTACTTCACAGCTACCCCATGGCT
CTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGGSCGGTATCTCCCACCTGGAAGCCGACCTGAGCCAGACCTCCCTGGTCCTGGAAACATC
CATTGCCGAACAGTTACAGGAGCTGCCGTTCACGCCTTTGCATGCCCCTATTGTTGTGGGAACCCAGACCAGGAGCTCTGCAGGGCAGCCCTCGAGAGCC
TCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCCRAGGCTGTCAGCGCTRCAGAACCTGTGACGTTTAACC
CTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGARATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGCYGAGGAACATCATGGCC
AAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCYGCAACGACGCCAYGACTGCAGCTGGTCCAGCTGGATGAGGCCGGCCAGCCCAGCTCT
GGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCACCTTTGATGCTGGGTCTCCTGGCTTCCAGCTGAGGTACATGGTGGGCCCTGGGTTCC
TGAAGCCAGGTGAGCGGCGCTGCTTTGCCCRCTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGACRGAGACTCCCTGCTGCTCATCGGATCTGC
TGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAACTKAATACGAGYAGGACAACATG
GTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGGCTGCACCTGACTTTGGCCAACGTGGGTC
ACCCGTGTGAACAGAAAGTGAGAGGTTGTAGCACATTGCCACCGTCCAGATCTYGGGTCATCTCAAACGATGGAGCCAGCCGCTTCTCTGGAGGCAGCCT
CCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGCRGACGTGGACAGTGAGCTGGCTGCCATGCTACTGACCCATGCCCGG
CAGGGCAAGGGGCSCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAG
ACTTGGGCCGGCGYGGGACGAGCGTGTTGWCRCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAA
GGCCGAGAGCATCGCCAGCCTGCTGAGCCTGGCCATCACCACGGAGCACACGCTCCACGCCACGCTGGGGGTCGCCGAGTTCTYTGAGTTTGTGCTTAAG
AACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCCYGAGCTCAGCGTCATCGTGGACAGTCAGGAGTGGAGGGACTTCAAGGGTGCTG
CTGGCCTGCACACACCGGTGGAGGAGGACATGTTCCACCTGCGTGGCAGCCTGGCCCCCCAGCTCTACCTGCGCCCCCACGAGACCGCCCACGTCCCCTT
CAAGTTCCAGAGCTTCTCTGCAGGGCAGCTGGCCATGGTGCAGGCCTCTCCTGGSTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCC
AGCGCAGTGCCCACTAAACACGCCAAGGTCTTGTTCCGAGCGAGTGGTGGCAAGCCCATCGCCGTGCTCTGCCTGACTGTGGAGCTGCAGCCCCACGTGG
TGGACCAGGTCTTCCGCTTCTATCACCCGGAGCTCTCCTTCCTGAAGAAGGCCATCCGCCTGCCGCCCTGGCACACATTTCCAGGCAGGTGCTCCGGTGG
GAATGCTTGGTGAGGACCCCCCAGTCCATGTTCGCTGCAGCGACCCGAACGTCATCTGTGAGACCCAGAATGTGGGCCCCGGGGARCCACGGGACATATT
TCTGAAGGTGGCCAGTGGTCCAAGCCCGGAGATCAAAGACTTCTTTGTCATCATTTACTCGGATCGCTGGCTGGCGACACCCACACAGACGTGGCAGGTC
TACCTCCACTCCCTGCAGCGCGTGGATGTCTCCTGCGTCGCAGGCCAGCTGACCCGCCTGTCCCTTGTCCTTCGGGGGACACAGACAGTGAGGAAAGTGA
GAGCTTTCACCTCTCATCCCCAGGAGCTGAAGACAGACCCCAAAGGTGTCTTCGTGCTGCCGCCTCRTGGGGTGCAGGACCTGCATGTTGGCGTGAGGCC
CCTTAGGGCCGGCAGCCGCTTTGTCCATCTCAACCTGGTGGACGTGGATTGCCACCAGCTGGTGGCCTCCTGGCTCGTGTGCCTCTGCTGCCGCCAGCCG
CTCATCTCCAAGGCCTTTGAGATCATGTTGGCTGCGGGCGAAGGGAAGGGTGTCAACAAGAGGATCACCTACACCAACCCCTACCCCTCCCGGAGGACAT
TCCACCTGCACAGCGACCACCCGGAGCTGCTGCGGTTCAGAGAGGACTCCTTCCAGGTCGGGGGTGGAGAGACCTACACCATCGGCTTGCAGTTWGCGCC
TAGTCAGAGAGTGGGTGAGGAGGAGATCCTGATCTACATCAATGACCATGAGGACAAAAACGAAGAGGCATTTTGCGTGAAGGTCATCTACCAGTGAGGG
CTTGAGGGTGACGTCCTTCCTGCGGCACCCAGCTGGGGCCTGTCTGTGCCCCTCCTGCCCTGCAGGCTGTCCTCCCCGCCTCTCTGCAGCCTTTCACTTC
AGTGCCCACCTGGCTGACCTGTGCACTTGGCTGAGGAAGCAGAGACCGAGCGCTGGTCATTTTGTAGTACCTGCATCCAGCTTAGCTGCTGCTGACACCC
AGCAGGCCTGGGTTCCGTGAGCGCGAACTCCGTGGTGGTGGGTCTGGCTCTGGTGCTGCCATCTACGCATGTGGGACCCTCGTTATCGCTGTTGCTCAAA
ATGTATTTTATGAATCATCCTAAATGAGAAAATTATGTTTTTCTTACTGGATTTTGTACAAACATAATCTATTATTTGCTATGCAATATTTTATGCTGGT
ATTATATCTGTTTTTTAAATTGTTGA

Protein Sequence    (SEQ ID NO:1119):
MPQDAVQQWGLCILGAAADHPGSPRDPQAGRMNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRH
FFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQD
PAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQ
EGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAG
VDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVER
RPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQ
ELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFT
FQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKH
LLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSS
RRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIAS
LLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFS
AGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGRCSGGNAW


SNP Information

Context             (SEQ ID NO:7869):
CGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGCGGGACGAGCGTGTTG
W
CGCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCT
Celera SNP ID:            hCV12041487
SNP Position Transcript:  2930
SNP Source:               Applera
Population(Allele,Count): african american(A,22|T,2)   caucasian(A,28|T,8)   total(A,50|T,10)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1119, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(T,267|A,1222)   total(A,1222|T,267) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1119, None   



Context             (SEQ ID NO:7870):
GTCCTTCGGGGGACACAGACAGTGAGGAAAGTGAGAGCTTTCACCTCTCATCCCCAGGAGCTGAAGACAGACCCCAAAGGTGTCTTCGTGCTGCCGCCTC
R
TGGGGTGCAGGACCTGCATGTTGGCGTGAGGCCCCTTAGGGCCGGCAGCCGCTTTGTCCATCTCAACCTGGTGGACGTGGATTGCCACCAGCTGGTGGCC
Celera SNP ID:            hCV25997654
SNP Position Transcript:  3967
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1119, None



Context             (SEQ ID NO:7871):
CCCCCCAGCTCTACCTGCGCCCCCACGAGACCGCCCACGTCCCCTTCAAGTTCCAGAGCTTCTCTGCAGGGCAGCTGGCCATGGTGCAGGCCTCTCCTGG
S
TTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTCTTGTTCCGAGCGAGTGGTGGCAAGC
Celera SNP ID:            hCV25997397
SNP Position Transcript:  3355
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(C,1|G,39)   total(C,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 1112, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:7872):
AGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGCGGGACGAGCGTGTTGGC
R
CAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCTGG
Celera SNP ID:            hCV25998563
SNP Position Transcript:  2932
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,36)   total(A,1|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 971, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7873):
GCCCGCCAGCGCCAGTACCTCGAGTTCTCGCTGCCCCGCAGAACTCACCTGTGGGACCAGGGTTGTCAATTTCCCAGCTGGCGGCCTCCCCGCGGTCCCC
R
ACTCAGCACTGCTTGGCCAGGCCTACTTCACAGCTACCCCATGGCTCTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGGCCGGTATCTCCC
Celera SNP ID:            hCV25992249
SNP Position Transcript:  1654
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,22)   caucasian(A,3|G,33)   total(A,5|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 545, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:7874):
TCGGCCACCCTGCATTTGCGGTCATCTTCCAGCTGGAGTACGTGTTCAGCAGCCCTGCAGGAGTGGACGGCAATGCAGCTTCGGTCACCTCTCTGTCCAA
M
CTGGCATGCATGCACATGGTCCGCTGGGCTGTTTGGAACCCCTTGCTGGAAGCTGATTCTGGAAGGGTGACCCTGCCTCTGCAGGGTGGGATCCAGCCCA
Celera SNP ID:            hCV25993603
SNP Position Transcript:  1258
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 413, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7875):
TACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCTGGCCATCACCACGGAGCACACGCTCCACGCCACGCTGGGGGTCGCCGAGTTCT
Y
TGAGTTTGTGCTTAAGAACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCCCGAGCTCAGCGTCATCGTGGACAGTCAGGAGTGGAGG
Celera SNP ID:            hCV27860310
SNP Position Transcript:  3084
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 1022, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:7876):
GGGTCATCTCAAACGATGGAGCCAGCCGCTTCTCTGGAGGCAGCCTCCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGC
R
GACGTGGACAGTGAGCTGGCTGCCATGCTACTGACCCATGCCCGGCAGGGCAAGGGGCCCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTA
Celera SNP ID:            hCV174346
SNP Position Transcript:  2755
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;JBIC-allele(A,84|G,1383)   total(G,1383|A,84)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 912, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7877):
TTCTGGATGCCAATAAACAGCCAGCCGAGGCTGTCAGCGCTACAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGA
R
ATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCC
Celera SNP ID:            hCV25994530
SNP Position Transcript:  2038
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,5|G,35)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 673, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7878):
CCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCG
Y
GGGACGAGCGTGTTGGCGCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCG
Celera SNP ID:            hCV174347
SNP Position Transcript:  2914
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;JBIC-allele(C,361|T,1112)   total(C,361|T,1112)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 965, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:7879):
AGCAGAGATGGCACCTTTGATGCTGGGTCTCCTGGCTTCCAGCTGAGGTACATGGTGGGCCCTGGGTTCCTGAAGCCAGGTGAGCGGCGCTGCTTTGCCC
R
CTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGACGGAGACTCCCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAA
Celera SNP ID:            hCV1743304
SNP Position Transcript:  2331
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,8)   total(G,8|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 771, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7880):
AGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGCGGACGTGGACAGTGAGCTGGCTGCCATGCTACTGACCCATGCCCGGCAGGGCAAGGGGC
S
CCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGC
Celera SNP ID:            hCV27473083
SNP Position Transcript:  2814
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 932, (P,CCC)   (R,CGC)      



Context             (SEQ ID NO:7881):
ACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGC
Y
GAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCCGCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGAGGC
Celera SNP ID:            hCV27860304
SNP Position Transcript:  2084
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 689, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7882):
ACACGCTCCACGCCACGCTGGGGGTCGCCGAGTTCTTTGAGTTTGTGCTTAAGAACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCC
Y
GAGCTCAGCGTCATCGTGGACAGTCAGGAGTGGAGGGACTTCAAGGGTGCTGCTGGCCTGCACACACCGGTGGAGGAGGACATGTTCCACCTGCGTGGCA
Celera SNP ID:            hCV25997034
SNP Position Transcript:  3148
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,40)   total(C,67|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 1043, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:7883):
TGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCCGCAACGACGCCA
Y
GACTGCAGCTGGTCCAGCTGGATGAGGCCGGCCAGCCCAGCTCTGGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCACCTTTGATGCTGG
Celera SNP ID:            hCV27860305
SNP Position Transcript:  2156
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 713, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7884):
CAGGTGCTCCGGTGGGAATGCTTGGTGAGGACCCCCCAGTCCATGTTCGCTGCAGCGACCCGAACGTCATCTGTGAGACCCAGAATGTGGGCCCCGGGGA
R
CCACGGGACATATTTCTGAAGGTGGCCAGTGGTCCAAGCCCGGAGATCAAAGACTTCTTTGTCATCATTTACTCGGATCGCTGGCTGGCGACACCCACAC
Celera SNP ID:            hCV883217
SNP Position Transcript:  3686
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,5)   caucasian(A,18|G,14)   total(A,37|G,19)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1119, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,4)      total(G,4|A,4) ;WICGR7_african_american_pooled(G,28|A,72)   WICGR8_asian_pooled(G,26|A,57)   WICGR6_caucasian_pooled(G,25|A,70)   total(G,79|A,199)   JBIC-allele(G,383|A,1100)   total(G,383|A,1100)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1119, None   



Context             (SEQ ID NO:7885):
GCTGAGGTACATGGTGGGCCCTGGGTTCCTGAAGCCAGGTGAGCGGCGCTGCTTTGCCCGCTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGAC
R
GAGACTCCCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGT
Celera SNP ID:            hCV27860306
SNP Position Transcript:  2372
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 785, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7886):
CCGCGGTCCCCGACTCAGCACTGCTTGGCCAGGCCTACTTCACAGCTACCCCATGGCTCTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGG
S
CGGTATCTCCCACCTGGAAGCCGACCTGAGCCAGACCTCCCTGGTCCTGGAAACATCCATTGCCGAACAGTTACAGGAGCTGCCGTTCACGCCTTTGCAT
Celera SNP ID:            hCV25997142
SNP Position Transcript:  1743
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,40)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 575, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:7887):
CCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAACT
K
AATACGAGCAGGACAACATGGTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGGCTGCACCT
Celera SNP ID:            hCV27860307
SNP Position Transcript:  2480
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 821, (E,GAA)   (X,TAA)      



Context             (SEQ ID NO:7888):
TGCAGGGCAGCCCTCGAGAGCCTCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCCGAGGCTGTCAGCGCT
R
CAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGA
Celera SNP ID:            hCV25995175
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 654, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:7889):
CATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAACTGAATACGAG
Y
AGGACAACATGGTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGGCTGCACCTGACTTTGGC
Celera SNP ID:            hCV27860308
SNP Position Transcript:  2489
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 824, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7890):
CTCGGTGGTGAAGGGCCGGCTGCACCTGACTTTGGCCAACGTGGGTCACCCGTGTGAACAGAAAGTGAGAGGTTGTAGCACATTGCCACCGTCCAGATCT
Y
GGGTCATCTCAAACGATGGAGCCAGCCGCTTCTCTGGAGGCAGCCTCCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGC
Celera SNP ID:            hCV27860309
SNP Position Transcript:  2654
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 879, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7891):
GGTACCCCGGCTGCTGCTA
M
TGCCGCAGGACGCGGTGCAGCAGTGGGGTCTTTGCATCCTGGGAGCAGCAGCAGATCATCCGGGAAGCCCACGGGACCCTCAGGCGGGCAGGATGAACGA
Celera SNP ID:            hCV1255755
SNP Position Transcript:  20
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,6|A,7)      total(A,7|C,6) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 1, (M,ATG)   (L,CTG)      1, (L,CTG)   (M,ATG)      



Context             (SEQ ID NO:7892):
TGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACC
Y
GCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGAGGCCGGCCAGCCCAGCTCTGGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCA
Celera SNP ID:            hCV26000016
SNP Position Transcript:  2143
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1119, 708, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:7893):
GGACATTCCACCTGCACAGCGACCACCCGGAGCTGCTGCGGTTCAGAGAGGACTCCTTCCAGGTCGGGGGTGGAGAGACCTACACCATCGGCTTGCAGTT
W
GCGCCTAGTCAGAGAGTGGGTGAGGAGGAGATCCTGATCTACATCAATGACCATGAGGACAAAAACGAAGAGGCATTTTGCGTGAAGGTCATCTACCAGT
Celera SNP ID:            hCV25998405
SNP Position Transcript:  4295
SNP Source:               Applera
Population(Allele,Count): african american(T,18)   caucasian(A,1|T,37)   total(A,1|T,55)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1119, None



Context             (SEQ ID NO:7894):
CCAGACCAGGAGCTCTGCAGGGCAGCCCTCGAGAGCCTCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCC
R
AGGCTGTCAGCGCTACAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAG
Celera SNP ID:            hCV836598
SNP Position Transcript:  1964
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1119, 649, (E,GAG)   (K,AAG)      649, (K,AAG)   (E,GAG)      



Gene Number:                 161
Celera Gene:                 hCG22639 - 103000085279807
Celera Transcript:           hCT2298807 - 103000085279842
Public Transcript Accession: NM_015102
Celera Protein:              hCP1794420 - 197000064927061
Public Protein Accession:    NP_055917
Gene Symbol:                 NPHP4
Protein Name:                nephronophthisis 4;DKFZp434K1235;KIAA0673;SLSN4
Celera Genomic Axis:         GA_x5YUV32VY08(2607633..2737821)
Chromosome:                  Chr1
OMIM number:                 601142
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2;KCNAB2


Transcript Sequence (SEQ ID NO:423):
GGTACCCCGGCTGCTGCTAMTGCCGCAGGACGCGGTGCAGCAGTGGGGTCTTTGCATCCTGGGAGCAGCAGCAGATCATCCGGGAAGCCCACGGGACCCT
CAGGCGGGCAGGATGAACGACTGGCACAGGATCTTCACCCAAAACGTGCTTGTCCCTCCCCACCCACAGAGAGCGCGCCAGCCTTGGAAGGAATCCACGG
CATTCCAGTGTGTCCTCAAGTGGCTGGACGGACCGGTAATTAGGCAGGGCGTGCTGGAGGTACTGTCAGAGGTTGAATGCCATCTGCGAGTGTCTTTCTT
TGATGTCACCTACCGGCACTTCTTTGGGAGGACGTGGAAAACCACAGTGAAGCCGACGAAGAGACCGCCGTCCAGGATCGTCTTTAATGAGCCCTTGTAT
TTTCACACATCCCTAAACCACCCTCATATCGTGGCTGTGGTGGAAGTGGTCGCTGAGGGCAAGAAACGGGATGGGAGCCTCCAGACATTGTCCTGTGGGT
TTGGAATTCTTCGGATCTTCAGCAACCAGCCGGACTCTCCTATCTCTGCTTCCCAGGACAAAAGGTTGCGGCTGTACCATGGCACCCCCAGAGCCCTCCT
GCACCCGCTTCTCCAGGACCCCGCAGAGCAAAACAGACACATGACCCTCATTGAGAACTGCAGCCTGCAGTACACGCTGAAGCCACACCCGGCCCTGGAG
CCTGCGTTCCACCTTCTTCCTGAGAACCTTCTGGTGTCTGGTCTGCAGCAGATACCTGGCCTGCTTCCAGCTCATGGAGAATCCGGCGACGCTCTCCGAA
AGCCTCGCCTCCAGAAGCCCATCACGGGGCACTTGGATGACTTATTCTTCACCCTGTACCCCTCCCTGGAGAAGTTTGAGGAAGAGCTGCTGGAGCTCCA
CGTCCAGGACCACTTCCAGGAGGGATGTGGCCCACTGGACGGTGGTGCCCTGGAGATCCTGGAGCGGCGCCTGCGTGTGGGCGTGCACAATGGTCTGGGC
TTCGTGCAGAGGCCGCAGGTCGTTGTACTGGTGCCTGAGATGGATGTGGCCTTGACGCGCTCAGCTAGCTTCAGCAGGAAAGTGGTCTCCTCTTCCAAGA
CCAGCTCCGGGAGCCAAGCTCTGGTTTTGAGAAGCCGCCTCCGCCTCCCAGAGATGGTCGGCCACCCTGCATTTGCGGTCATCTTCCAGCTGGAGTACGT
GTTCAGCAGCCCTGCAGGAGTGGACGGCAATGCAGCTTCGGTCACCTCTCTGTCCAAMCTGGCATGCATGCACATGGTCCGCTGGGCTGTTTGGAACCCC
TTGCTGGAAGCTGATTCTGGAAGGGTGACCCTGCCTCTGCAGGGTGGGATCCAGCCCAACCCCTCGCACTGTCTGGTCTACAAGGTACCCTCAGCCAGCA
TGAGCTCTGAAGAGGTGAAGCAGGTGGAGTCGGGTACACTCCGGTTCCAGTTCTCGCTGGGCTCAGAAGAACACCTGGATGCACCCACGGAGCCTGTCAG
TGGCCCCAAAGTGGAGCGGCGGCCTTCCAGGAAACCACCCACGTTGTCAATTTCCCAGCTGGCGGCCTCCCCGCGGTCCCCRACTCAGCACTGCTTGGCC
AGGCCTACTTCACAGCTACCCCATGGCTCTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGGSCGGTATCTCCCACCTGGAAGCCGACCTGA
GCCAGACCTCCCTGGTCCTGGAAACATCCATTGCCGAACAGTTACAGGAGCTGCCGTTCACGCCTTTGCATGCCCCTATTGTTGTGGGAACCCAGACCAG
GAGCTCTGCAGGGCAGCCCTCGAGAGCCTCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCCRAGGCTGTC
AGCGCTRCAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGARATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGG
CCCAGGACTGCYGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCYGCAACGACGCCAYGACTGCAGCTGGTCCA
GCTGGATGAGGCCGGCCAGCCCAGCTCTGGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCACCTTTGATGCTGGGTCTCCTGGCTTCCAG
CTGAGGTACATGGTGGGCCCTGGGTTCCTGAAGCCAGGTGAGCGGCGCTGCTTTGCCCRCTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGACR
GAGACTCCCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGT
GGCAACTKAATACGAGYAGGACAACATGGTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGG
CTGCACCTGACTTTGGCCAACGTGGGTCACCCGTGTGAACAGAAAGTGAGAGGTTGTAGCACATTGCCACCGTCCAGATCTYGGGTCATCTCAAACGATG
GAGCCAGCCGCTTCTCTGGAGGCAGCCTCCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGCRGACGTGGACAGTGAGCT
GGCTGCCATGCTACTGACCCATGCCCGGCAGGGCAAGGGGCSCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGG
TCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGYGGGACGAGCGTGTTGWCRCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGG
TCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCTGGCCATCACCACGGAGCACACGCTCCACGCCACGCTGGGGGT
CGCCGAGTTCTYTGAGTTTGTGCTTAAGAACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCCYGAGCTCAGCGTCATCGTGGACAGT
CAGGAGTGGAGGGACTTCAAGGGTGCTGCTGGCCTGCACACACCGGTGGAGGAGGACATGTTCCACCTGCGTGGCAGCCTGGCCCCCCAGCTCTACCTGC
GCCCCCACGAGACCGCCCACGTCCCCTTCAAGTTCCAGAGCTTCTCTGCAGGGCAGCTGGCCATGGTGCAGGCCTCTCCTGGSTTGAGCAACGAGAAGGG
CATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTCTTGTTCCGAGCGAGTGGTGGCAAGCCCATCGCCGTGCTCTGC
CTGACTGTGGAGCTGCAGCCCCACGTGGTGGACCAGGTCTTCCGCTTCTATCACCCGGAGCTCTCCTTCCTGAAGAAGGCCATCCGCCTGCCGCCCTGGC
ACACATTTCCAGGTGCTCCGGTGGGAATGCTTGGTGAGGACCCCCCAGTCCATGTTCGCTGCAGCGACCCGAACGTCATCTGTGAGACCCAGAATGTGGG
CCCCGGGGARCCACGGGACATATTTCTGAAGGTGGCCAGTGGTCCAAGCCCGGAGATCAAAGACTTCTTTGTCATCATTTACTCGGATCGCTGGCTGGCG
ACACCCACACAGACGTGGCAGGTCTACCTCCACTCCCTGCAGCGCGTGGATGTCTCCTGCGTCGCAGGCCAGCTGACCCGCCTGTCCCTTGTCCTTCGGG
GGACACAGACAGTGAGGAAAGTGAGAGCTTTCACCTCTCATCCCCAGGAGCTGAAGACAGACCCCAAAGGTGTCTTCGTGCTGCCGCCTCRTGGGGTGCA
GGACCTGCATGTTGGCGTGAGGCCCCTTAGGGCCGGCAGCCGCTTTGTCCATCTCAACCTGGTGGACGTGGATTGCCACCAGCTGGTGGCCTCCTGGCTC
GTGTGCCTCTGCTGCCGCCAGCCGCTCATCTCCAAGGCCTTTGAGATCATGTTGGCTGCGGGCGAAGGGAAGGGTGTCAACAAGAGGATCACCTACACCA
ACCCCTACCCCTCCCGGAGGACATTCCACCTGCACAGCGACCACCCGGAGCTGCTGCGGTTCAGAGAGGACTCCTTCCAGGTGTGGTGGGGCTGTGCCTG
GGACTCCTAGGGGAAGACCCGGGGACCTGAATGGAGGGCAGTTAGCCTGCATTTAGGAGCGAGTTCCTCAAATCACCAGCAGTCTTCCAAAAGCCCCAGG
GCGGTGACAGGTACCATCCCATAGTTGGGTGGGCCCGTTGTCTCTTTAGTAGCTGGAGATTTAGCAAAGTTTCTCCTGAGTGTGGGAAAGGGTGTTGTGC
CCAGGGCTTTTCATGGTAATGTTAGACAGCTCAGTCTCGGAAATAAGTGTGCCTTCGAGTCCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATC
CTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCCTGCCTTGTCAGCTCCCCTTGGAAATAAACACGACCATGCAGAGA
GGTTGCTGGTGAGAGCGTGGGACAGCCCGGGGGTGGATGCTGGGATTTGGATGC

Protein Sequence    (SEQ ID NO:1120):
MPQDAVQQWGLCILGAAADHPGSPRDPQAGRMNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRH
FFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQD
PAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQ
EGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAG
VDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVER
RPSRKPPTLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQP
SRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQ
PSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQ
DNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLT
HARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEF
VLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSP
WKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRD
IFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGV
RPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVWWGCAWDS


SNP Information

Context             (SEQ ID NO:7895):
CGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGCGGGACGAGCGTGTTG
W
CGCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCT
Celera SNP ID:            hCV12041487
SNP Position Transcript:  2858
SNP Source:               Applera
Population(Allele,Count): african american(A,22|T,2)   caucasian(A,28|T,8)   total(A,50|T,10)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1120, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(T,267|A,1222)   total(A,1222|T,267) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1120, None   



Context             (SEQ ID NO:7896):
GTCCTTCGGGGGACACAGACAGTGAGGAAAGTGAGAGCTTTCACCTCTCATCCCCAGGAGCTGAAGACAGACCCCAAAGGTGTCTTCGTGCTGCCGCCTC
R
TGGGGTGCAGGACCTGCATGTTGGCGTGAGGCCCCTTAGGGCCGGCAGCCGCTTTGTCCATCTCAACCTGGTGGACGTGGATTGCCACCAGCTGGTGGCC
Celera SNP ID:            hCV25997654
SNP Position Transcript:  3891
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 1291, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:7897):
CCCCCCAGCTCTACCTGCGCCCCCACGAGACCGCCCACGTCCCCTTCAAGTTCCAGAGCTTCTCTGCAGGGCAGCTGGCCATGGTGCAGGCCTCTCCTGG
S
TTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTCTTGTTCCGAGCGAGTGGTGGCAAGC
Celera SNP ID:            hCV25997397
SNP Position Transcript:  3283
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(C,1|G,39)   total(C,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 1088, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:7898):
AGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGCGGGACGAGCGTGTTGGC
R
CAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCTGG
Celera SNP ID:            hCV25998563
SNP Position Transcript:  2860
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,23)   caucasian(G,36)   total(A,1|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 947, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7899):
CACCCACGGAGCCTGTCAGTGGCCCCAAAGTGGAGCGGCGGCCTTCCAGGAAACCACCCACGTTGTCAATTTCCCAGCTGGCGGCCTCCCCGCGGTCCCC
R
ACTCAGCACTGCTTGGCCAGGCCTACTTCACAGCTACCCCATGGCTCTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGGCCGGTATCTCCC
Celera SNP ID:            hCV25992249
SNP Position Transcript:  1582
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,22)   caucasian(A,3|G,33)   total(A,5|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 521, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:7900):
TCGGCCACCCTGCATTTGCGGTCATCTTCCAGCTGGAGTACGTGTTCAGCAGCCCTGCAGGAGTGGACGGCAATGCAGCTTCGGTCACCTCTCTGTCCAA
M
CTGGCATGCATGCACATGGTCCGCTGGGCTGTTTGGAACCCCTTGCTGGAAGCTGATTCTGGAAGGGTGACCCTGCCTCTGCAGGGTGGGATCCAGCCCA
Celera SNP ID:            hCV25993603
SNP Position Transcript:  1258
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,37)   caucasian(C,38)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 413, (K,AAA)   (N,AAC)   



Context             (SEQ ID NO:7901):
TACCGGGAACGCACGAAGGCCGAGAGCATCGCCAGCCTGCTGAGCCTGGCCATCACCACGGAGCACACGCTCCACGCCACGCTGGGGGTCGCCGAGTTCT
Y
TGAGTTTGTGCTTAAGAACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCCCGAGCTCAGCGTCATCGTGGACAGTCAGGAGTGGAGG
Celera SNP ID:            hCV27860310
SNP Position Transcript:  3012
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 998, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:7902):
GGGTCATCTCAAACGATGGAGCCAGCCGCTTCTCTGGAGGCAGCCTCCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGC
R
GACGTGGACAGTGAGCTGGCTGCCATGCTACTGACCCATGCCCGGCAGGGCAAGGGGCCCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTA
Celera SNP ID:            hCV174346
SNP Position Transcript:  2683
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;JBIC-allele(A,84|G,1383)   total(G,1383|A,84)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 888, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:7903):
AGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGCGGACGTGGACAGTGAGCTGGCTGCCATGCTACTGACCCATGCCCGGCAGGGCAAGGGGC
S
CCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCGC
Celera SNP ID:            hCV27473083
SNP Position Transcript:  2742
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 908, (P,CCC)   (R,CGC)      



Context             (SEQ ID NO:7904):
AGCAGAGATGGCACCTTTGATGCTGGGTCTCCTGGCTTCCAGCTGAGGTACATGGTGGGCCCTGGGTTCCTGAAGCCAGGTGAGCGGCGCTGCTTTGCCC
R
CTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGACGGAGACTCCCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAA
Celera SNP ID:            hCV1743304
SNP Position Transcript:  2259
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,8)   total(G,8|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 747, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:7905):
TTCTGGATGCCAATAAACAGCCAGCCGAGGCTGTCAGCGCTACAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGA
R
ATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCC
Celera SNP ID:            hCV25994530
SNP Position Transcript:  1966
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,5|G,35)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 649, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:7906):
CCCAGGACGTCAGCCGCGAGTCGGATGCCACCCGCAGGCGTAAGCTGGAGCGGATGAGGTCTGTGCGCCTGCAGGAGGCCGGGGGAGACTTGGGCCGGCG
Y
GGGACGAGCGTGTTGGCGCAGCAGAGCGTCCGCACACAGCACTTGCGGGACCTACAGGTCATCGCCGCCTACCGGGAACGCACGAAGGCCGAGAGCATCG
Celera SNP ID:            hCV174347
SNP Position Transcript:  2842
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;JBIC-allele(C,361|T,1112)   total(C,361|T,1112)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 941, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:7907):
ACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGC
Y
GAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCCGCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGAGGC
Celera SNP ID:            hCV27860304
SNP Position Transcript:  2012
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 665, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7908):
ACACGCTCCACGCCACGCTGGGGGTCGCCGAGTTCTTTGAGTTTGTGCTTAAGAACCCCCACAACACACAGCACACGGTGACTGTGGAGATCGACAACCC
Y
GAGCTCAGCGTCATCGTGGACAGTCAGGAGTGGAGGGACTTCAAGGGTGCTGCTGGCCTGCACACACCGGTGGAGGAGGACATGTTCCACCTGCGTGGCA
Celera SNP ID:            hCV25997034
SNP Position Transcript:  3076
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,40)   total(C,67|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 1019, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:7909):
CAGGTGCTCCGGTGGGAATGCTTGGTGAGGACCCCCCAGTCCATGTTCGCTGCAGCGACCCGAACGTCATCTGTGAGACCCAGAATGTGGGCCCCGGGGA
R
CCACGGGACATATTTCTGAAGGTGGCCAGTGGTCCAAGCCCGGAGATCAAAGACTTCTTTGTCATCATTTACTCGGATCGCTGGCTGGCGACACCCACAC
Celera SNP ID:            hCV883217
SNP Position Transcript:  3610
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,5)   caucasian(A,18|G,14)   total(A,37|G,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 1197, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,4)      total(G,4|A,4) ;WICGR7_african_american_pooled(G,28|A,72)   WICGR8_asian_pooled(G,26|A,57)   WICGR6_caucasian_pooled(G,25|A,70)   total(G,79|A,199)   JBIC-allele(G,383|A,1100)   total(G,383|A,1100)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 1197, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:7910):
TGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCCGCAACGACGCCA
Y
GACTGCAGCTGGTCCAGCTGGATGAGGCCGGCCAGCCCAGCTCTGGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCACCTTTGATGCTGG
Celera SNP ID:            hCV27860305
SNP Position Transcript:  2084
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 689, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:7911):
GCTGAGGTACATGGTGGGCCCTGGGTTCCTGAAGCCAGGTGAGCGGCGCTGCTTTGCCCGCTACCTGGCCGTGCAGACCCTGCAGATTGACGTCTGGGAC
R
GAGACTCCCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGT
Celera SNP ID:            hCV27860306
SNP Position Transcript:  2300
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 761, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:7912):
CCGCGGTCCCCGACTCAGCACTGCTTGGCCAGGCCTACTTCACAGCTACCCCATGGCTCTCAGGCCTCCCCGGCCCAGGCACAGGAGTTCCCGTTGGAGG
S
CGGTATCTCCCACCTGGAAGCCGACCTGAGCCAGACCTCCCTGGTCCTGGAAACATCCATTGCCGAACAGTTACAGGAGCTGCCGTTCACGCCTTTGCAT
Celera SNP ID:            hCV25997142
SNP Position Transcript:  1671
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,40)   total(C,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 551, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:7913):
CCTGCTGCTCATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAACT
K
AATACGAGCAGGACAACATGGTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGGCTGCACCT
Celera SNP ID:            hCV27860307
SNP Position Transcript:  2408
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 797, (E,GAA)   (X,TAA)      



Context             (SEQ ID NO:7914):
TGCAGGGCAGCCCTCGAGAGCCTCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCCGAGGCTGTCAGCGCT
R
CAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGA
Celera SNP ID:            hCV25995175
SNP Position Transcript:  1907
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 630, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:7915):
CATCGGATCTGCTGCCGTCCAGATGAAGCATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAACTGAATACGAG
Y
AGGACAACATGGTGGTGAGTGGAGACATGCTGGGGTTTGGCCGCGTCAAGCCCATCGGCGTCCACTCGGTGGTGAAGGGCCGGCTGCACCTGACTTTGGC
Celera SNP ID:            hCV27860308
SNP Position Transcript:  2417
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 800, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:7916):
GGTACCCCGGCTGCTGCTA
M
TGCCGCAGGACGCGGTGCAGCAGTGGGGTCTTTGCATCCTGGGAGCAGCAGCAGATCATCCGGGAAGCCCACGGGACCCTCAGGCGGGCAGGATGAACGA
Celera SNP ID:            hCV1255755
SNP Position Transcript:  20
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,6|A,7)      total(A,7|C,6) ;no_pop(C,-|A,-)   ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 1, (M,ATG)   (L,CTG)      1, (L,CTG)   (M,ATG)      



Context             (SEQ ID NO:7917):
TGCTACAGTTTCTTGCCTTTAGCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACC
Y
GCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGAGGCCGGCCAGCCCAGCTCTGGCGCCCTGACCCACATCCTCGTGCCTGTGAGCAGAGATGGCA
Celera SNP ID:            hCV26000016
SNP Position Transcript:  2071
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1120, 684, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:7918):
CTCGGTGGTGAAGGGCCGGCTGCACCTGACTTTGGCCAACGTGGGTCACCCGTGTGAACAGAAAGTGAGAGGTTGTAGCACATTGCCACCGTCCAGATCT
Y
GGGTCATCTCAAACGATGGAGCCAGCCGCTTCTCTGGAGGCAGCCTCCTCACGACTGGAAGCTCAAGGCGAAAACACGTGGTGCAAGCACAGAAGCTGGC
Celera SNP ID:            hCV27860309
SNP Position Transcript:  2582
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 855, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:7919):
CCAGACCAGGAGCTCTGCAGGGCAGCCCTCGAGAGCCTCCATGGTGCTCCTGCAGTCCTCCGGCTTTCCCGAGATTCTGGATGCCAATAAACAGCCAGCC
R
AGGCTGTCAGCGCTACAGAACCTGTGACGTTTAACCCTCAGAAGGAAGAATCAGATTGTCTACAAAGCAACGAGATGGTGCTACAGTTTCTTGCCTTTAG
Celera SNP ID:            hCV836598
SNP Position Transcript:  1892
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1120, 625, (E,GAG)   (K,AAG)      625, (K,AAG)   (E,GAG)      



Gene Number:                 162
Celera Gene:                 hCG22667 - 79000075516476
Celera Transcript:           hCT1966383 - 79000075516500
Public Transcript Accession: NM_016039
Celera Protein:              hCP1780616 - 197000069452436
Public Protein Accession:    NP_057123
Gene Symbol:                 CGI-99
Protein Name:                chromosome 14 open reading frame 166;CGI-99
Celera Genomic Axis:         GA_x5YUV32VVQK(769111..785114)
Chromosome:                  Chr14
OMIM number:                 605399
OMIM Information:            NIDOGEN 2;NID2


Transcript Sequence (SEQ ID NO:424):
CCGGAGCCGCGATTGGTGGGCATTTGCCGGCGGCCACCGCTTTTAAGCCACGATTGGCGAAGGCCGCCGTCATTTCGGAGCGACTCAGCGCCTGCCCGCC
CTCTCGCCGCGTCGCCGGTGCCTGCGCCTCCCGCTCCACCTCGCTTCTTCTCTCCCGGCCGAGGCCCGGGGGACCAGAGCGAGAAGCGGGGACCATGTTC
CGACGCAAGTTGACGGCTCTCGACTACCACAACCCCGCCGGCTTCAACTGCAAAGATGAAACAGAATTTAGAAACTTCATCGTTTGGCTTGAAGACCAGA
AAATCAGGCACTACAAGATTGAAGACAGAGGGAATTTAAGAAACATCCACAGCAGCGACTGGCCCAAGTTCTTTGAAAAGTATCTCAGAGATGTTMACTG
TCCTTTCAAGATTCAAGATCGACAAGAAGCTATTSACTGGCTTCTTGGTTTAGCTGTTAGACTTGAATATGGAGATAATGCTGAAAAATACAAGGATTTA
GTACCTGATAATTCAAARACTGCWGACAATGCAACTAAAAATGCAGAACCATTGATCAATTTGGATGTAAATAATCCTGATTTTAAGGCTGGTGTGATGG
CTTTGGCTAACCTGCTTCAGATTCAGCGTCATGATGATTACCTGGTAATGCTTAAGGCAATTCGGATTTTGGTTCAGGAGCGCCTGACACAGGATGCAGT
TGCTAAGGCAAATCAAACAAAAGAGGGCTTACCTGTTGCTTTAGACAAACATATTCTTGGTTTTGACACAGGAGATGCAGTTCTTAATGAAGCTGCTCAA
ATTCTGCGATTGCTGCACATAGAGGAGCTCAGAGAGCTACAGACAAAAATCAACGAAGCCATAGTAGCTGTTCAGGCAATTATTACACTTCTGGCATGTT
TGGAAATCAAAATGTCACATTCTCGGGGGAGGAAGCCCAGAAAATTGGGTATGTTCTAGAGATTTACCACCATTGCTTATTGCTTTTTTYTTTAATAAAG
TTTAGGAAAGTAGAATTTTTATTATGTACTGTATGTTTGCATAAATCACCTTTCTCCTTTGTGGTTAAGGCATATATGCCAACCCCCAGCTTTGTCCTAG
AGACAATATAGATCCTTAAGTCATAGGAAAACTTAAAACACTTTATTGGAGTAATCTAGAAAATTTTAAAATTGTTACATCTTTGGTATTTATAAATGTG
ATACTTTACTTTCTGTGGGTACTTCTATAGAGGCACTACAGRATCAGAAAATGCAAATTGAATCATTTTAGCACCTTTTGATATAAATAGAAATGCACTG
ATGCAGAGGTAAAAAATCTTAGAACTTTTGTTGGGAAACTATAAATAATTGGTCCTTTCCCATCAGTTCTGCATTGGCTTCTCCAACTGTCAAGGTTTAG
GATTATAWTGTTATATTGATCACATGTGCTTWAATTTCTTGGCCAGAAGGAATCCATGGCAAAAATCAGGTTTAGAGTCTTAAACTCTAATTCTTAGTTG
AATGAATTTGATCTTTTAAATATTAATGATAAATGTTWACAAGAWGTTGCTTTAATAAGCAACAGTTAAAATTCTGTTACCTTTTTAAACTTGCAATAAC
AACCTTCATTTTTAAAAATACAGTAGTAAAGATTGAGGTATCAGCTTTTCACAAAAGTCTTTTTGCACTACAAAATGTTCATCTTGGATGCTCAGGAACG
TCTAATGGCCAATTCCTTTTTTACTTTCTTTGCCTTTGCAGTCACTGTTCTTTAGGGTCCAG

Protein Sequence    (SEQ ID NO:1121):
MFRRKLTALDYHNPAGFNCKDETEFRNFIVWLEDQKIRHYKIEDRGNLRNIHSSDWPKFFEKYLRDVNCPFKIQDRQEAIDWLLGLAVRLEYGDNAEKYK
DLVPDNSKTADNATKNAEPLINLDVNNPDFKAGVMALANLLQIQRHDDYLVMLKAIRILVQERLTQDAVAKANQTKEGLPVALDKHILGFDTGDAVLNEA
AQILRLLHIEELRELQTKINEAIVAVQAIITLLACLEIKMSHSRGRKPRKLGMF


SNP Information

Context             (SEQ ID NO:7920):
TTTATTGGAGTAATCTAGAAAATTTTAAAATTGTTACATCTTTGGTATTTATAAATGTGATACTTTACTTTCTGTGGGTACTTCTATAGAGGCACTACAG
R
ATCAGAAAATGCAAATTGAATCATTTTAGCACCTTTTGATATAAATAGAAATGCACTGATGCAGAGGTAAAAAATCTTAGAACTTTTGTTGGGAAACTAT
Celera SNP ID:            hCV7591819
SNP Position Transcript:  1242
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7921):
TCTGGCATGTTTGGAAATCAAAATGTCACATTCTCGGGGGAGGAAGCCCAGAAAATTGGGTATGTTCTAGAGATTTACCACCATTGCTTATTGCTTTTTT
Y
TTTAATAAAGTTTAGGAAAGTAGAATTTTTATTATGTACTGTATGTTTGCATAAATCACCTTTCTCCTTTGTGGTTAAGGCATATATGCCAACCCCCAGC
Celera SNP ID:            hCV26535247
SNP Position Transcript:  990
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7922):
CTTGGCCAGAAGGAATCCATGGCAAAAATCAGGTTTAGAGTCTTAAACTCTAATTCTTAGTTGAATGAATTTGATCTTTTAAATATTAATGATAAATGTT
W
ACAAGAAGTTGCTTTAATAAGCAACAGTTAAAATTCTGTTACCTTTTTAAACTTGCAATAACAACCTTCATTTTTAAAAATACAGTAGTAAAGATTGAGG
Celera SNP ID:            hCV1261144
SNP Position Transcript:  1538
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|T,6)   total(A,1|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7923):
TGGGAAACTATAAATAATTGGTCCTTTCCCATCAGTTCTGCATTGGCTTCTCCAACTGTCAAGGTTTAGGATTATATTGTTATATTGATCACATGTGCTT
W
AATTTCTTGGCCAGAAGGAATCCATGGCAAAAATCAGGTTTAGAGTCTTAAACTCTAATTCTTAGTTGAATGAATTTGATCTTTTAAATATTAATGATAA
Celera SNP ID:            hCV7591828
SNP Position Transcript:  1432
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7924):
AGAAGGAATCCATGGCAAAAATCAGGTTTAGAGTCTTAAACTCTAATTCTTAGTTGAATGAATTTGATCTTTTAAATATTAATGATAAATGTTTACAAGA
W
GTTGCTTTAATAAGCAACAGTTAAAATTCTGTTACCTTTTTAAACTTGCAATAACAACCTTCATTTTTAAAAATACAGTAGTAAAGATTGAGGTATCAGC
Celera SNP ID:            hCV15804965
SNP Position Transcript:  1545
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7925):
ATCGACAAGAAGCTATTGACTGGCTTCTTGGTTTAGCTGTTAGACTTGAATATGGAGATAATGCTGAAAAATACAAGGATTTAGTACCTGATAATTCAAA
R
ACTGCTGACAATGCAACTAAAAATGCAGAACCATTGATCAATTTGGATGTAAATAATCCTGATTTTAAGGCTGGTGTGATGGCTTTGGCTAACCTGCTTC
Celera SNP ID:            hCV7591786
SNP Position Transcript:  518
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1121, 108, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:7926):
GGTAAAAAATCTTAGAACTTTTGTTGGGAAACTATAAATAATTGGTCCTTTCCCATCAGTTCTGCATTGGCTTCTCCAACTGTCAAGGTTTAGGATTATA
W
TGTTATATTGATCACATGTGCTTTAATTTCTTGGCCAGAAGGAATCCATGGCAAAAATCAGGTTTAGAGTCTTAAACTCTAATTCTTAGTTGAATGAATT
Celera SNP ID:            hCV7591820
SNP Position Transcript:  1408
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1121, None   



Context             (SEQ ID NO:7927):
AAGAAGCTATTGACTGGCTTCTTGGTTTAGCTGTTAGACTTGAATATGGAGATAATGCTGAAAAATACAAGGATTTAGTACCTGATAATTCAAAAACTGC
W
GACAATGCAACTAAAAATGCAGAACCATTGATCAATTTGGATGTAAATAATCCTGATTTTAAGGCTGGTGTGATGGCTTTGGCTAACCTGCTTCAGATTC
Celera SNP ID:            hCV25935331
SNP Position Transcript:  524
SNP Source:               Applera
Population(Allele,Count): african american(A,2|T,28)   caucasian(T,40)   total(A,2|T,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1121, 110, (A,GCA)   (A,GCT)   



Context             (SEQ ID NO:7928):
TTTAAGAAACATCCACAGCAGCGACTGGCCCAAGTTCTTTGAAAAGTATCTCAGAGATGTTAACTGTCCTTTCAAGATTCAAGATCGACAAGAAGCTATT
S
ACTGGCTTCTTGGTTTAGCTGTTAGACTTGAATATGGAGATAATGCTGAAAAATACAAGGATTTAGTACCTGATAATTCAAAAACTGCTGACAATGCAAC
Celera SNP ID:            hCV7591750
SNP Position Transcript:  435
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1121, 81, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:7929):
CCAGAAAATCAGGCACTACAAGATTGAAGACAGAGGGAATTTAAGAAACATCCACAGCAGCGACTGGCCCAAGTTCTTTGAAAAGTATCTCAGAGATGTT
M
ACTGTCCTTTCAAGATTCAAGATCGACAAGAAGCTATTGACTGGCTTCTTGGTTTAGCTGTTAGACTTGAATATGGAGATAATGCTGAAAAATACAAGGA
Celera SNP ID:            hCV7591742
SNP Position Transcript:  396
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1121, 68, (N,AAC)   (H,CAC)      



Gene Number:                 163
Celera Gene:                 hCG22720 - 84000313902425
Celera Transcript:           hCT13818 - 84000313902426
Public Transcript Accession: NM_000921
Celera Protein:              hCP41958 - 197000069433204
Public Protein Accession:    NP_000912
Gene Symbol:                 PDE3A
Protein Name:                phosphodiesterase 3A, cGMP-inhibited;CGI-PDE
Celera Genomic Axis:         GA_x5YUV32W45C(10792272..11105718)
Chromosome:                  Chr12
OMIM number:                 123805
OMIM Information:            PHOSPHODIESTERASE 3A, cGMP-INHIBITED;PDE3A


Transcript Sequence (SEQ ID NO:425):
AGTGAAGAGGGCACCCTATACCATGGCAGTGCCCGGCGACGCTGCACGAGTCAGGRACAAGCCCGTCCACAGTGGGGTGAGTCAAGCCCCCACGGCGGGC
CGGGACTGCCACCATCGTGCGGACCCCGCATCGCCGCGGGACTCGGGCTGCCGTGGCTGCTGGGGAGACCTGGTGCTGCAGCCGCTCCGGAGCTCTCGGA
AACTTTCCTCCGCGCTGTGCGCGGGCTCCCTGTCCTTTCTGCTGGCGCTGCTGGTGAGGCTGGTCCGCGGGGAGGTCGGCTGTGACCTGGAGCAGTGTAA
GGAGGCGGCGGCGGCGGAGGAGGAGGAAGCAGCCCCGGGAGCAGAAGGGGGCGTCTTCCCGGGGCCTCGGGGAGGTGCTCCCGGGGGCGGTGCGCGGCTC
AGCCCCTGGCTGCAGCCCTCGGCGCTGCTCTTCAGTCTCCTGTGTGCCTTCTTCTGGATGGGCTTGTACCTCCTGCGCGCCGGGGTGCGCCTGCCTCTGG
CTGTCGCGCTGCTGGCCGCCTGCTGCGGGGGGGAAGCGCTCGTCCAGATTGGGCTGGGCGTCGGGGAGGATCACTTACTCTCACTCCCCGCCGCGGGGGT
GGTGCTCAGCTGCTTGGCCGCCGCGACATGGCTGGTGCTGAGGCTGAGGCTGGGCGTCCTCATGATCGCCTTGACTAGCGCKGTCAGGACCGTGTCCCTC
ATTTCCTTAGAGAGGTTCAAGGTCGCCTGGAGACCTTACCTGGCGTACCTGGCCGGCGTGCTGGGGATCCTCTTGGCCAGGTACGTGGAACAAATCTTGC
CGCAGTCCGCGGAGGCGGCTCCAAGGGAGCATTTGGGGTCCCAGCTGATTGCTGGGACCAAGGAAGATATCCCGGTGTTTAAGAGGAGGAGGCGGTCCAG
CTCCGTCGTGTCCGCCGAGATGTCCGGCTGCAGCAGCAAGTCCCATCGGAGGACCTCCCTGCCCTGTATACCGAGGGAACAGCTCATGGGGCATTCAGAA
TGGGACCACAAACGAGGGCCAAGAGGATCACAGTCTTCAGGAACCAGTATTACTGTGGACATCGCCGTCATGGGCGAGGCCCACGGCCTCATTACCGACC
TCCTGGCAGACCCTTCTCTTCCACCAAACGTGTGCACATCCTTGAGAGCCGTGAGCAACTTGCTCAGCACACAGCTCACCTTCCAGGCCATTCACAASCC
CAGAGTGAATCCCGTYACTTCGCTCAGTGAAAACTATACCTGTTCTGACTCTGAAGAGAGCTCTGAAAAAGACAAGCTTGCTATTCCAAAGCGCCTGAGA
AGGAGTTTGCCTCCTGGCTTGTTGAGACGAGTTTCTTCCACTTGGACCACCACCACCTCGGCCACAGGTCTACCCACCTTGGAGCCTGCACCAGTACGGA
GAGACCGCAGCACCAGCATCAAACTGCAGGAAGCACCTTCATCCAGTCCTGATTCTTGGAATAATCCAGTGATGATGACCCTCACCAAAAGCAGATCCTT
TACTTCATCCTATGCTATTTCTGCAGCTAACCATGTAAAGGCTAAAAAGCAAAGTCGACCAGGTGCCCTCGCTAAAATTTCACCTCTTTCATCGCCCTGC
TCCTCACCKCTCCAAGGGACTCCTGCCAGCAGCCTGGTCAGCAAAATTTCTGCAGTGCAGTTTCCAGAATCTGCTGACACAACTGCCAAACAAAGCCTAG
GTTCTCACAGGGCCTTAACTTACACTCAGAGTGCCCCAGACCTATCCCCTCAAATCCTGACTCCACCTGTTATATGTAGCAGCTGTGGCAGACCATATTC
CCAAGGGAATCCTGCTGATGAGCCCCTGGAGAGAAGTGGGGTAGCCACTCGGACACCAAGTAGAACAGATGACACTGCTCAAGTTACCTCTGATTATGAA
ACCAATAACAACAGTGACAGCAGTGACATTGTACAGAATGAAGATGAAACAGAGTGCCTGAGAGAGCCTCTGAGGAAAGCATCGGCTTGCAGCACCTATG
CTCCTGAGACCATGATGTTTCTGGACAAACCAATTCTTGCTCCCGAACCTCTTGTCATGGATAACCTGGACTCAATTATGGAGCAGCTAAATACTTGGAA
TTTTCCAATTTTTGATTTAGTGGAAAATATAGGAAGAAAATGTGGCCGTATTCTTAGTCAGGTATCTTACAGACTTTTTGAAGACATGGGCCTCTTTGAA
GCTTTTAAAATTCCAATTAGGGAATTTATGAATTATTTTCATGCTTTGGAGATTGGATATAGGGATATTCCTTATCATAACAGAATCCATGCCACTGATG
TTTTACATGCTGTTTGGTATCTTACTACACAGCCTATTCCAGGCCTCTCAACTGTGATTAATGATCATGGTTCAACCAGTGATTCAGATTCTGACAGTGG
ATTTACACATGGACATATGGGATATGTATTCTCAAAAACGTATAATGTGACAGATGATAAATACGGATGTCTGTCTGGGAATATCCCTGCCTTGGAGTTG
ATGGCGCTGTATGTGGCTGCAGCCATGCACGATTATGATCATCCAGGAAGGACTAATGCTTTCCTGGTTGCAACTAGTGCTCCTCAGGCGGTGCTATATA
ACGATCGTTCAGTTTTGGAGAATCATCACGCAGCTGCTGCATGGAATCTTTTCATGTCCCGGCCAGAGTATAACTTCTTAATTAACCTTGACCATGTGGA
ATTTAAGCATTTCCGTTTCCTTGTCATTGAAGCAATTTTGGCCACTGACCTGAAGAAACACTTTGACTTCGTAGCCAAATTTAATGGCAAGGTAAATGAT
GATGTTGGAATAGATTGGACCAATGAAAATGATCGTCTACTGGTTTGTCAAATGTGTATAAAGTTGGCTGATATCAATGGTCCAGCTAAATGTAAAGAAC
TCCATCTTCAGTGGACAGATGGTATTGTCAATGAATTTTATGAACAGGGTGATGAAGAGGCCAGCCTTGGATTACCCATAAGCCCCTTCATGGATCGTTC
TGCTCCTCAGCTGGCCAACCTTCAGGAATCCTTCATCTCTCACATTGTGGGGCCTCTGTGCAACTCCTATGATTCAGCAGGACTAATGCCTGGAAAATGG
GTGGAAGACAGCGATGAGTCAGGAGATACTGATGACCCAGAAGAAGAGGAGGAAGAAGCACCAGCACCAAATGAAGAGGAAACCTGTGAAAATAATGAAT
CTCCAAAAAAGAAGACTTTCAAAAGGAGAAAAATCTACTGCCAAATAACTCAGCACCTCTTACAGAACCACAAGATGTGGAAGAAAGTCATTGAAGAGGA
GCAACGGTTGGCAGGCATAGAAAATCAATCCCTGGACCAGACCCCTCAGTCGCACTCTTCAGAACAGATCCAGGCTATCAAGGAAGAAGAAGAAGAGAAA
GGGAAACCAAGAGGCGAGGAGATACCAACCCAAAAGCCAGACCAGTGACAATGGATAGAATGGGCTGTGTTTCCAAACAGATTGACTTGTCAAAGACTCT
CTTCAAGCCAGCAYAACATTTAGACACAACACTGTAGAAATTTGAGATGGGCAAATGGCTATTGCATTTTGGGATTCTTCGCATTTTGTGTGTATATTTT
TACAGTGAGGTACATTGTTAAAAACTTTTTGCTCAAAGAAGCTTTCACATTGCAACACCAGCTTCTAAGGATTTTTTAAGGAGGGAATATATATGTGTGT
GTGTATATAAGCTCCCACATAGATACATGTAAAACATATTCACACCCATGCACGCACACACATACACACTGAAGGCCACGATTGCTGGCTCCACAATTTA
GTAACATTTATATTAAGATATATATATAGTGGTCACTGTGATATAATAAATCATAAAGGAAACCAAATCACAAAGGAGATGGTGTGGCTTAGCAAGGAAA
CAGTGCAGGAAATGTAGGTTACCAACTAAGCAGCTTTTGCTCTTAGTACTGAGGGATGAAAGTTCCAGAGCATTATTTGAATTCTGATACATCCTGCCAA
CACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGAGACAGAAGGGAATGGTTTGAGAGGKTGCTTGTGTGCATGTGTGTGC
ATATGTAAAGAGATTTTTGTGGTTTAAGTAACTCAGAATAGCTGTAGCAAATGACTGAATACATGTGAACAAACAGAAGGAAGTTCACTCTGGAGTGTCT
TTGGGAGGCAGCCATTCCAAATGCCCTCCTCCATTTAGCTTCAATAAAGGGCCTTTTGCTGRTGGAGGGCACTCAAGGGCTGGGTGAGAGGGCCACGTGT
TTGGTATTACATTACTGCTATGCACCACTTGAAGGAGCTCTATCACCAGCCTCAAACCCGAAAGACTGAGGCATTTTCCAGTCTACTTGCCTAATGAATG
TATARGAACTSTCTATGAGTATGGATGTCACTCAACTAAGATCAAATCACCATTTAAGGGGATGGCATTCTTTATACCTAAACAYCTAAGAGCTGAAGTC
AGGTCTTTTAATCAGGTTAGAATTCTAAATGRTGCCAGAGAAGGCTTGGGAAATTGTACTTCAGCGTGATAGCCTGTGTCTTCTTAATTTGCTGCAAAAT
ATGTGGTAGAGAAAGAAAAGGAAACAGAAAAATCACTCTGGGTTATATAGCAAGAGATGAAGGAGAATATTTCAACACAGGGTTTTTGTGTTGACATAGG
AAAAGCCTGATTCTTGGCAACTGTTGTAGTTTGTCTTTCAGGGGTGAAGGTCCCACTGACAACCCCTGTTGTGGTGTTCCACACGCTGTTTGTTGGGGTA
GCTTCCATCGGCAGTCTGGCCCATTGTCAGTCATGCTTCTTCTGGCCGGGGAGATTATAGAGAGATTGTTTGAAGATYSGGTTATTATTGAAAGTCTTTT
TTTTTGTTTGTTTTGTTTTGGTTTGTTTGTTTATCTACACTTGTTTATGCTGTGAGCCAAACCTCTATTTAAAAAGTTGATACTCACTTTCAATATTTTA
TTTCATATTATTATATATGTCATGATAGTTATCTTGATGTAAATATGAAGATTTTTTTGTTTCTGTAGATAGTAAACTCTTTTTTTAAAAAAGGAAAAGG
GAAACATTTTTATAAAGTTATATTTTAATCACCATTTTTATACATTGTAGTTCTCTCCAAGCCCAGTAAGAGAATGATGATTCATTTGCATGGAGGTCGA
TGGACAACCAATCATCTACCTTTTCTAATTTAAATGATAATCTGATATAGTTTTATTGCCAGTTAAATGAGGATGCTGCAAAGCATGTTTTTTCACTAGT
AACTTTTGCTAACTGAATGAATTCTGGGTCCATATCTCCCAGATGAAAAACTGTTAACCAATACCATATTTTATAGTTGGTGTCCATTTCTTTCCAACAC
TGTTTGTTATGATTCTTCCTTSAGTACTTATATACAGACCTGCTCATTATCTAAACAATCTTACCTTCTAAGTAAACCTTGATTGTGATTTCCAGTTTTT
ATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAAAAATACTTTTGTTTCTCATAAATGGATATTGTACTCCCCCCTTTCAAAGCATTAT

Protein Sequence    (SEQ ID NO:1122):
MAVPGDAARVRDKPVHSGVSQAPTAGRDCHHRADPASPRDSGCRGCWGDLVLQPLRSSRKLSSALCAGSLSFLLALLVRLVRGEVGCDLEQCKEAAAAEE
EEAAPGAEGGVFPGPRGGAPGGGARLSPWLQPSALLFSLLCAFFWMGLYLLRAGVRLPLAVALLAACCGGEALVQIGLGVGEDHLLSLPAAGVVLSCLAA
ATWLVLRLRLGVLMIALTSAVRTVSLISLERFKVAWRPYLAYLAGVLGILLARYVEQILPQSAEAAPREHLGSQLIAGTKEDIPVFKRRRRSSSVVSAEM
SGCSSKSHRRTSLPCIPREQLMGHSEWDHKRGPRGSQSSGTSITVDIAVMGEAHGLITDLLADPSLPPNVCTSLRAVSNLLSTQLTFQAIHKPRVNPVTS
LSENYTCSDSEESSEKDKLAIPKRLRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSTSIKLQEAPSSSPDSWNNPVMMTLTKSRSFTSSYAIS
AANHVKAKKQSRPGALAKISPLSSPCSSPLQGTPASSLVSKISAVQFPESADTTAKQSLGSHRALTYTQSAPDLSPQILTPPVICSSCGRPYSQGNPADE
PLERSGVATRTPSRTDDTAQVTSDYETNNNSDSSDIVQNEDETECLREPLRKASACSTYAPETMMFLDKPILAPEPLVMDNLDSIMEQLNTWNFPIFDLV
ENIGRKCGRILSQVSYRLFEDMGLFEAFKIPIREFMNYFHALEIGYRDIPYHNRIHATDVLHAVWYLTTQPIPGLSTVINDHGSTSDSDSDSGFTHGHMG
YVFSKTYNVTDDKYGCLSGNIPALELMALYVAAAMHDYDHPGRTNAFLVATSAPQAVLYNDRSVLENHHAAAAWNLFMSRPEYNFLINLDHVEFKHFRFL
VIEAILATDLKKHFDFVAKFNGKVNDDVGIDWTNENDRLLVCQMCIKLADINGPAKCKELHLQWTDGIVNEFYEQGDEEASLGLPISPFMDRSAPQLANL
QESFISHIVGPLCNSYDSAGLMPGKWVEDSDESGDTDDPEEEEEEAPAPNEEETCENNESPKKKTFKRRKIYCQITQHLLQNHKMWKKVIEEEQRLAGIE
NQSLDQTPQSHSSEQIQAIKEEEEEKGKPRGEEIPTQKPDQ


SNP Information

Context             (SEQ ID NO:7930):
TCCACACGCTGTTTGTTGGGGTAGCTTCCATCGGCAGTCTGGCCCATTGTCAGTCATGCTTCTTCTGGCCGGGGAGATTATAGAGAGATTGTTTGAAGAT
Y
GGGTTATTATTGAAAGTCTTTTTTTTTGTTTGTTTTGTTTTGGTTTGTTTGTTTATCTACACTTGTTTATGCTGTGAGCCAAACCTCTATTTAAAAAGTT
Celera SNP ID:            hCV1710036
SNP Position Transcript:  4878
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,1)   total(C,1|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7931):
GAATTCTGATACATCCTGCCAACACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGAGACAGAAGGGAATGGTTTGAGAGG
K
TGCTTGTGTGCATGTGTGTGCATATGTAAAGAGATTTTTGTGGTTTAAGTAACTCAGAATAGCTGTAGCAAATGACTGAATACATGTGAACAAACAGAAG
Celera SNP ID:            hCV8874355
SNP Position Transcript:  4079
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7932):
TTCTGGGTCCATATCTCCCAGATGAAAAACTGTTAACCAATACCATATTTTATAGTTGGTGTCCATTTCTTTCCAACACTGTTTGTTATGATTCTTCCTT
S
AGTACTTATATACAGACCTGCTCATTATCTAAACAATCTTACCTTCTAAGTAAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAA
Celera SNP ID:            hCV1710037
SNP Position Transcript:  5422
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,5)      total(G,2|C,5) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7933):
CATGTGAACAAACAGAAGGAAGTTCACTCTGGAGTGTCTTTGGGAGGCAGCCATTCCAAATGCCCTCCTCCATTTAGCTTCAATAAAGGGCCTTTTGCTG
R
TGGAGGGCACTCAAGGGCTGGGTGAGAGGGCCACGTGTTTGGTATTACATTACTGCTATGCACCACTTGAAGGAGCTCTATCACCAGCCTCAAACCCGAA
Celera SNP ID:            hCV8874356
SNP Position Transcript:  4262
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7934):
ATTACTGCTATGCACCACTTGAAGGAGCTCTATCACCAGCCTCAAACCCGAAAGACTGAGGCATTTTCCAGTCTACTTGCCTAATGAATGTATAGGAACT
S
TCTATGAGTATGGATGTCACTCAACTAAGATCAAATCACCATTTAAGGGGATGGCATTCTTTATACCTAAACACCTAAGAGCTGAAGTCAGGTCTTTTAA
Celera SNP ID:            hCV29092119
SNP Position Transcript:  4411
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7935):
ACCTCCTGGCAGACCCTTCTCTTCCACCAAACGTGTGCACATCCTTGAGAGCCGTGAGCAACTTGCTCAGCACACAGCTCACCTTCCAGGCCATTCACAA
S
CCCAGAGTGAATCCCGTTACTTCGCTCAGTGAAAACTATACCTGTTCTGACTCTGAAGAGAGCTCTGAAAAAGACAAGCTTGCTATTCCAAAGCGCCTGA
Celera SNP ID:            hCV25762495
SNP Position Transcript:  1198
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,32)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1122, 392, (N,AAC)   (K,AAG)   



Context             (SEQ ID NO:7936):
GCGAGGAGATACCAACCCAAAAGCCAGACCAGTGACAATGGATAGAATGGGCTGTGTTTCCAAACAGATTGACTTGTCAAAGACTCTCTTCAAGCCAGCA
Y
AACATTTAGACACAACACTGTAGAAATTTGAGATGGGCAAATGGCTATTGCATTTTGGGATTCTTCGCATTTTGTGTGTATATTTTTACAGTGAGGTACA
Celera SNP ID:            hCV25762342
SNP Position Transcript:  3514
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,37|T,1)   total(C,64|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None



Context             (SEQ ID NO:7937):
CTCTTCCACCAAACGTGTGCACATCCTTGAGAGCCGTGAGCAACTTGCTCAGCACACAGCTCACCTTCCAGGCCATTCACAAGCCCAGAGTGAATCCCGT
Y
ACTTCGCTCAGTGAAAACTATACCTGTTCTGACTCTGAAGAGAGCTCTGAAAAAGACAAGCTTGCTATTCCAAAGCGCCTGAGAAGGAGTTTGCCTCCTG
Celera SNP ID:            hCV25762514
SNP Position Transcript:  1216
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,30)   caucasian(C,3|T,27)   total(C,9|T,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1122, 398, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:7938):
CCTATGCTATTTCTGCAGCTAACCATGTAAAGGCTAAAAAGCAAAGTCGACCAGGTGCCCTCGCTAAAATTTCACCTCTTTCATCGCCCTGCTCCTCACC
K
CTCCAAGGGACTCCTGCCAGCAGCCTGGTCAGCAAAATTTCTGCAGTGCAGTTTCCAGAATCTGCTGACACAACTGCCAAACAAAGCCTAGGTTCTCACA
Celera SNP ID:            hCV25600091
SNP Position Transcript:  1609
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,31)   caucasian(T,38)   total(G,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1122, 529, (P,CCG)   (P,CCT)   



Context             (SEQ ID NO:7939):
ACTTGCCTAATGAATGTATAGGAACTGTCTATGAGTATGGATGTCACTCAACTAAGATCAAATCACCATTTAAGGGGATGGCATTCTTTATACCTAAACA
Y
CTAAGAGCTGAAGTCAGGTCTTTTAATCAGGTTAGAATTCTAAATGATGCCAGAGAAGGCTTGGGAAATTGTACTTCAGCGTGATAGCCTGTGTCTTCTT
Celera SNP ID:            hCV29092120
SNP Position Transcript:  4485
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7940):
TCAACTAAGATCAAATCACCATTTAAGGGGATGGCATTCTTTATACCTAAACACCTAAGAGCTGAAGTCAGGTCTTTTAATCAGGTTAGAATTCTAAATG
R
TGCCAGAGAAGGCTTGGGAAATTGTACTTCAGCGTGATAGCCTGTGTCTTCTTAATTTGCTGCAAAATATGTGGTAGAGAAAGAAAAGGAAACAGAAAAA
Celera SNP ID:            hCV29092121
SNP Position Transcript:  4532
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7941):
AGTGAAGAGGGCACCCTATACCATGGCAGTGCCCGGCGACGCTGCACGAGTCAGG
R
ACAAGCCCGTCCACAGTGGGGTGAGTCAAGCCCCCACGGCGGGCCGGGACTGCCACCATCGTGCGGACCCCGCATCGCCGCGGGACTCGGGCTGCCGTGG
Celera SNP ID:            hCV25600078
SNP Position Transcript:  56
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,11)   caucasian(A,3|G,17)   total(A,10|G,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1122, 12, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:7942):
CCACACGCTGTTTGTTGGGGTAGCTTCCATCGGCAGTCTGGCCCATTGTCAGTCATGCTTCTTCTGGCCGGGGAGATTATAGAGAGATTGTTTGAAGATT
S
GGTTATTATTGAAAGTCTTTTTTTTTGTTTGTTTTGTTTTGGTTTGTTTGTTTATCTACACTTGTTTATGCTGTGAGCCAAACCTCTATTTAAAAAGTTG
Celera SNP ID:            hCV8874360
SNP Position Transcript:  4879
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7943):
TATTACATTACTGCTATGCACCACTTGAAGGAGCTCTATCACCAGCCTCAAACCCGAAAGACTGAGGCATTTTCCAGTCTACTTGCCTAATGAATGTATA
R
GAACTGTCTATGAGTATGGATGTCACTCAACTAAGATCAAATCACCATTTAAGGGGATGGCATTCTTTATACCTAAACACCTAAGAGCTGAAGTCAGGTC
Celera SNP ID:            hCV1710035
SNP Position Transcript:  4405
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,2)      total(G,2|A,1) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1122, None   



Context             (SEQ ID NO:7944):
CACTCCCCGCCGCGGGGGTGGTGCTCAGCTGCTTGGCCGCCGCGACATGGCTGGTGCTGAGGCTGAGGCTGGGCGTCCTCATGATCGCCTTGACTAGCGC
K
GTCAGGACCGTGTCCCTCATTTCCTTAGAGAGGTTCAAGGTCGCCTGGAGACCTTACCTGGCGTACCTGGCCGGCGTGCTGGGGATCCTCTTGGCCAGGT
Celera SNP ID:            hCV25760899
SNP Position Transcript:  682
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,2)   caucasian(G,34)   total(G,68|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1122, 220, (A,GCG)   (A,GCT)   



Gene Number:                 164
Celera Gene:                 hCG22866 - 79000076181130
Celera Transcript:           hCT13964 - 79000076181131
Public Transcript Accession: NM_004700
Celera Protein:              hCP40304 - 197000064953103
Public Protein Accession:    NP_004691
Gene Symbol:                 KCNQ4
Protein Name:                potassium voltage-gated channel, KQT-like subfamily, member 4;DFNA2;KV7.4;Kv7.4
Celera Genomic Axis:         GA_x5YUV32W802(42296621..42353041)
Chromosome:                  Chr1
OMIM number:                 603537
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4;KCNQ4


Transcript Sequence (SEQ ID NO:426):
AGCCATGCGTCTCTGAGCGCCCCGAGCGCGCCCCCGCCCCGGACCGTGCCCGGGCCCCATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTC
CACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGG
TCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGACTTCATCGTGTTCGTGGCCTCGG
TGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCG
CCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCC
TCCTTCCTGGTCTACCTGGCYGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCWCTGGTSGGGGACGATTACAYYGACAACCATCDGCT
ATGGTGACAAGACACCGCACACRTGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGGCATCCTAGG
CTCCRGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGCTGCCTGGCGCCTG
TACTCCACCGATATGAGCCGGGCCTACCTGACAGCCACCTGGTACTACTATGACAGTATCCTCCCATCCTTCAGAGAGCTGGCCCTCTTGTTTGAGCACG
TGCAACGGGCCCGCAATGGGGGCCTACGGCCCCTGGAGGTGCGGCGGGCGCCGGTACCCGACGGAGCACCCTCCCGTTACCCGCCCGTTGCCACCTGCCA
CCGGCCGGGCAGCACCTCCTTCTGCCCTGGGGAAAGCAGCCGGATGGGCATCAAAGACCGCATCCGCATGGGCAGCTCCCAGCGGCGGACGGGTCCTTCC
AAGCAGCAKCTGGCACCTCCAACAATGCCCACCTCCCCAAGCAGCGAGCAGGTGGGTGAGGCCACCAGCCCCACCAAGGTGCAAAAGAGCTGGAGCTTCA
ATGACCGCACCCGCTTCCGGGCATCTCTGAGACTCAAACCCCGCACCTCTGCTGAGGATGCCCCCTCAGAGGAAGTAGCAGAGGAGAAGAGCTACCAGTG
TGAGCTCACGGTGGACGACATCATGCCTGCTGTGAAGACAGTCATCCGCTCCATCAGGATTCTCAAGTTCCTGGTGGCCAAAAGGAAATTCAAGGAGACA
YTGCGACCRTACGACGTGAAGGACGTCATTGAGCAGTACTCAGCAGGCCACCTGGACATGCTGGGCCGGATCAAGAGCCTGCAAACTCGGGTGGACCAAA
TTGTGGGTCGGGGGCCCGGGGACAGGAAGGCCCGGGAGAAGGGCGACAAGGGGCCCTCCGACGCGGAGGTGGTGGATGAAATCAGCATGATGGGACGCGT
GGTCAAGGTGGAGAAGCAGGTGCAGTCCATCGAGCACAAGCTGGACCTGCTGTTGGGCTTCTATTCGCGCTGCCTGCGCTCTGGCACCTCGGCCAGCCTG
GGCGCCGTGCAAGTGCCGCTGTTCGACCCCGACATCACCTCCGACTACCACAGCCCTGTGGACCACGAGGACATCTCCGTCTCCGCACAGACGCTCAGCA
TCTCCCGCTCGGTCAGCACCAACATGGACTGAGGGACTTCTCAGAGGCAGGGCAGCACACGGCCAGCCCCGCGGCCTGGCGCTCCGACTGCCCTCTGAGG
CCTCCGGACTCCTCTCGTACTTGAACTCACTCCCTCACGGGGAGAGAGACCACACGCAGTATTGAGCTGCCTGAGTGGGCGTGGTACCTGCTGTGGGTGC
CAGCGCCCCTTCCCCACCTCAGGAGCGTGAGATGCCAGGTCGCACAGAGGGCAGCAGCAGCGGCCGTCCYGCGGCCTCTGGGCCCCCCAGTGCCCTGCCC
ACTCCATCAAGGCCCTATGTGGCCCACCTGGCAGGGGCACAGCCCCGGGAGTGGGAGCGGGCGCTGGGGCCCTGGGCCCTGACCCAGCTTCCAGCTATGC
AAGGTGAGGTCTCTGGCCCACCCTTCGGACACAGCAGGGAAGCCCTCCCGCCAAGTCCCCGCCCCACTTGGGGGTGGGCCAAGGTGCCCCCACAGGTACC
CACAAAGCACAGGACCCTGCCACAAGGCAGGTGGACACCATATATGCAAACCATGTTAAATATGCAACTTTGGGGACCCCCATGGGGTCTCTCTGTCCCT
CCCCCATTGGGAGCTGGGCCCCCAGCAGTAGCTGGTCTCAGGCTGCTTGGCCACCACCCTGTCCCTATTCTTTGGCTTATCACTCCTTCCCCTCCCAGCA
TGGGGCCTGTTTCTCCCCTGCCCTCTCCTAAGGGCAATGCCTGGGCCTTTCTTCCCATTTGCAAGTGTCAGCTCCCAGGGGCTCCCTCCTCCTGCTGGGT
GGCCACTCCCCTCCTTGGCCCTCCAGACACCACTCATAGTCAGCACAGGTTTCTGTATCCTCCCCAAAACTCCCAGACAGTGCTTCGTGGACGATCGCAC
AAACATAGCCTTTTAGTTTCTCCAGACAGGAAGAAAGCCTCTCACACTTAAACATGCAATGACGTGACACACTTGGAGACATGAGTGCAGAGCCACTCAG
CCGCTCCTGGGCCTCTGCAGCAGATGCCAGTGGACTGGCCTTGCAGGGTGACGWCCACTAAGAGGAAGACCCCCAACTCCATCTGAGCAGGAGAAGGAGC
TTTGAAGTAACCCGAGAGCTCTCCAGGCCCCACCCAGACCTTTACCCGCTCCCCTTCTTCAAGAAGATCTCCTCCTCTCTGGTCCAGGAGCCCTAACCCA
CTGCCTCTGCCTGTCCCCAAGGGCCCGCCTCCGTGTCTCCACAGCACAACTCGGGCCCAGGCCTGACACCACTGGAGAGACCCCAGGCCCACTTCTAGCC
AGGCCTGTGCCTTCCTAGTCACTCTAACTCCCAGAGAGAATAAGAATGCATGTAATAGCTATACCAACCGCGCATCCGGCTTTCACATGCACTGTCTCCC
CTCCCTCCACACCCCACTTCTTCACTTCAATTGGCAGCGCCACATCCAGGCGTCAGCCCCCATTCACTCCAGGAACACTTTCTTATCCCCACCCCTTTGC
TCCTCTTCTGCAAAGCCAATGCAGGTGGCAGGAAGGTGAGGGGTAGTGGACCAATGGCAACCCTCTGTGGGAACAAGGGGCCGAGGCCACGCTGCCTGCA
TCTCGTGCTGGGGACCTGCATGCGCCAGCACCAGGGCTTGGACTGGATCTTACTCAGTCCATGGTGCCCAGCCTCTGCCCCAACATGCCCTCTGCATGTG
ACCGTCATGCCCTGGATGGAGCCACTCCTGGCTCACCCCACCTGCACTGCACTGTCCCCAGAGAGCCACCCCTCCACCCACTCAGAGACAGCTGTGGAGA
GGGCCAGGAGAATGGGATTACCCTATGACCAAGGAGACATGGGAAGAAGCCCTCCTTCCTTCCACGATCGAGGTTCCGC

Protein Sequence    (SEQ ID NO:1123):
MIVVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKEL
ITAWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKR
RMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKD
RIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIR
ILKFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLG
FYSRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD


SNP Information

Context             (SEQ ID NO:7945):
AGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACAC
R
TGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCC
Celera SNP ID:            hCV25939738
SNP Position Transcript:  623
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,31|G,1)   total(A,69|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1123, 155, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:7946):
GCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGC
W
CTGGTGGGGGACGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGC
Celera SNP ID:            hCV27862873
SNP Position Transcript:  565
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 136, (H,CAC)   (L,CTC)      



Context             (SEQ ID NO:7947):
TGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGC
Y
GAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACA
Celera SNP ID:            hCV27967719
SNP Position Transcript:  521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1123, 121, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:7948):
TACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGT
S
GGGGACGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCT
Celera SNP ID:            hCV27862874
SNP Position Transcript:  571
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 138, (S,TCG)   (W,TGG)      



Context             (SEQ ID NO:7949):
GTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGATTACAT
Y
GACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCT
Celera SNP ID:            hCV27862875
SNP Position Transcript:  586
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 143, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:7950):
CGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGATTACATTGACAACCATC
D
GCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGGCATCCT
Celera SNP ID:            hCV27862876
SNP Position Transcript:  597
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 147, (S,AGC)   (G,GGC)      147, (G,GGC)   (C,TGC)      



Context             (SEQ ID NO:7951):
TGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGGCATCCTAGGCTCC
R
GCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGCTGCCTGGCGCCTGTACTC
Celera SNP ID:            hCV27862877
SNP Position Transcript:  705
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 183, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:7952):
TGAGCTCACGGTGGACGACATCATGCCTGCTGTGAAGACAGTCATCCGCTCCATCAGGATTCTCAAGTTCCTGGTGGCCAAAAGGAAATTCAAGGAGACA
Y
TGCGACCGTACGACGTGAAGGACGTCATTGAGCAGTACTCAGCAGGCCACCTGGACATGCTGGGCCGGATCAAGAGCCTGCAAACTCGGGTGGACCAAAT
Celera SNP ID:            hCV25936085
SNP Position Transcript:  1401
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,35|T,1)   total(C,43|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1123, 415, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7953):
GCAGCACCTCCTTCTGCCCTGGGGAAAGCAGCCGGATGGGCATCAAAGACCGCATCCGCATGGGCAGCTCCCAGCGGCGGACGGGTCCTTCCAAGCAGCA
K
CTGGCACCTCCAACAATGCCCACCTCCCCAAGCAGCGAGCAGGTGGGTGAGGCCACCAGCCCCACCAAGGTGCAAAAGAGCTGGAGCTTCAATGACCGCA
Celera SNP ID:            hCV25935439
SNP Position Transcript:  1109
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,34)   caucasian(G,1|T,25)   total(G,3|T,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1123, 317, (Q,CAG)   (H,CAT)   



Context             (SEQ ID NO:7954):
GGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGATTACA
Y
TGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCC
Celera SNP ID:            hCV25939786
SNP Position Transcript:  585
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,17)   total(C,1|T,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1123, 143, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7955):
CCTGAGTGGGCGTGGTACCTGCTGTGGGTGCCAGCGCCCCTTCCCCACCTCAGGAGCGTGAGATGCCAGGTCGCACAGAGGGCAGCAGCAGCGGCCGTCC
Y
GCGGCCTCTGGGCCCCCCAGTGCCCTGCCCACTCCATCAAGGCCCTATGTGGCCCACCTGGCAGGGGCACAGCCCCGGGAGTGGGAGCGGGCGCTGGGGC
Celera SNP ID:            hCV15877070
SNP Position Transcript:  2070
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1123, None   



Context             (SEQ ID NO:7956):
CGGTGGACGACATCATGCCTGCTGTGAAGACAGTCATCCGCTCCATCAGGATTCTCAAGTTCCTGGTGGCCAAAAGGAAATTCAAGGAGACACTGCGACC
R
TACGACGTGAAGGACGTCATTGAGCAGTACTCAGCAGGCCACCTGGACATGCTGGGCCGGATCAAGAGCCTGCAAACTCGGGTGGACCAAATTGTGGGTC
Celera SNP ID:            hCV25936097
SNP Position Transcript:  1409
SNP Source:               Applera
Population(Allele,Count): african american(G,14)   caucasian(A,1|G,35)   total(A,1|G,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1123, 417, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:7957):
ATGCAATGACGTGACACACTTGGAGACATGAGTGCAGAGCCACTCAGCCGCTCCTGGGCCTCTGCAGCAGATGCCAGTGGACTGGCCTTGCAGGGTGACG
W
CCACTAAGAGGAAGACCCCCAACTCCATCTGAGCAGGAGAAGGAGCTTTGAAGTAACCCGAGAGCTCTCCAGGCCCCACCCAGACCTTTACCCGCTCCCC
Celera SNP ID:            hCV28011204
SNP Position Transcript:  2854
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1123, None   



Gene Number:                 164
Celera Gene:                 hCG22866 - 79000076181130
Celera Transcript:           hCT2333486 - 79000076181149
Public Transcript Accession: NM_004700
Celera Protein:              hCP1810463 - 197000064953104
Public Protein Accession:    NP_004691
Gene Symbol:                 KCNQ4
Protein Name:                potassium voltage-gated channel, KQT-like subfamily, member 4;DFNA2;KV7.4;Kv7.4
Celera Genomic Axis:         GA_x5YUV32W802(42296596..42298269)
Chromosome:                  Chr1
OMIM number:                 603537
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4;KCNQ4


Transcript Sequence (SEQ ID NO:427):
ATGCCAGGTCGCACAGAGGGCAGCAGCAGCGGCCGTCCYGCGGCCTCTGGGCCCCCCAGTGCCCTGCCCACTCCATCAAGGCCCTATGTGGCCCACCTGG
CAGGGGCACAGCCCCGGGAGTGGGAGCGGGCGCTGGGGCCCTGGGCCCTGACCCAGCTTCCAGCTATGCAAGAGAGCCACCCCTCCACCCACTCAGAGAC
AGCTGTGGAGAGGGCCAGGAGAATGGGATTACCCTATGACCAAGGAGACATGGGAAGAAGCCCTCCTTCCTTCCACGATCGAGGTTCCGCCATCAACTCG
GTTCTCGGATATGCA

Protein Sequence    (SEQ ID NO:1124):
MPGRTEGSSSGRPAASGPPSALPTPSRPYVAHLAGAQPREWERALGPWALTQLPAMQESHPSTHSETAVERARRMGLPYDQGDMGRSPPSFHDRGSAINS
VLGYA


SNP Information

Context             (SEQ ID NO:7958):
ATGCCAGGTCGCACAGAGGGCAGCAGCAGCGGCCGTCC
Y
GCGGCCTCTGGGCCCCCCAGTGCCCTGCCCACTCCATCAAGGCCCTATGTGGCCCACCTGGCAGGGGCACAGCCCCGGGAGTGGGAGCGGGCGCTGGGGC
Celera SNP ID:            hCV15877070
SNP Position Transcript:  39
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1124, 13, (P,CCC)   (P,CCT)      



Gene Number:                 165
Celera Gene:                 hCG22870 - 30000023468320
Celera Transcript:           hCT2333410 - 30000023468329
Public Transcript Accession: NM_144990
Celera Protein:              hCP1810484 - 30000023468308
Public Protein Accession:    NP_659427
Gene Symbol:                 FLJ23878
Protein Name:                hypothetical protein FLJ23878
Celera Genomic Axis:         GA_x5YUV32W802(42113101..42120742)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:428):
GAACCCACCACTCCAAGCTGCCTGCAGAGCACCTATACTTTCTAATACTATTACCTAATACTAGAGAGCCAGAGACACCGTAAATAACCTTGTTATCTTA
TATTTATGTATTTAAAAGATGGTTCATAAATGTYTTTAGTGCTTACCATGAAAGACAATTTTTACCCCCATCTCCAAAAAGAAGTAGAACTGATTCAGCT
CACAGAAGGCTGTTAAAGGCGCCAGAGAAATATGTGATGCAGTGGCTTAAAGAGACTGCCAGGAAGAGTGGGGAAAGTTGCTGCACTCAAGTCAATRTGG
GAAATTTCATGCAGAACAGCCACCCAATAGCAAGGCCTCTAGGTAAGTAGGGAGAACGCCTCTGGTCATGTTCAGGTGTTTCGTCTGTCAAGGTGCTTCT
CCCGGACAGCTATTTCTGCACAGTTCAACACGACTTGAGTTGGCCATCTCAAAACAGCTATAGCCTCAGTTGCTGTGAGGGCACCTCATGGATGACAGAG
GCAAGAAAGGCTTGAGGGAGAGGGGGTGAGGCAGGGGGAGCTTGGAGCCGTCATTCTCTAACCCTAAGAGCTGTGGACACAAAGCCGAGCCCAACCTGGC
TGCTGCCCYGGCGGGCAAGGAGAGGRCACCGAATGCACTSTCCCCAGAGCCTCGCACTGCCACCAGTTGAGGCCTGCGCCCCTCTCTTCCCCGCACACCA
TAGCCTCTTTTCTTGAGTGCTCTACCCAAACTACTGCCTCACCCCCTAGGAAACAAACATTTGGTAACATCTTCAGAAAGGCTGCTTTCAAGGAAGGCAG
CTTCTCTACGCTGTCAAACAGCTTTCTTAGTTGAAGCATCTAACTGTGGCACCATCCTTACTGCCCCCAATTGGGGCTTCCAGAAGCAGTGTGGGCAAGC
GCTGCCAGCCTTCTGCAGAATGATGAGCACTGGTCAGTCCTGTGCTGATAAAKACTGTGTGTCACCCACGTCTTGGTTTCTCCAACAGCAGGTAACAACC
TCATCTTCCCAAAGAGATAGATAGCTACGCCTGACCTATTTTTCAGGGCTCTTCTGGACAGCAGCCTCTGTCTCCAGCACAGAGAAGGGCCTGGCGTCAG
GGGGAGCCCTGGAGCCTACCATGTGCCTCCTGCTCCATCTTGGGAGCAGCTGGGCCCTGTCAGTACTCAGTAGAGCCTGGGATTGGTGACTGACTAAAGA
GGGAGGTGGAGGCTTTAGGCAGCAGCGCTGAAAGAGGTGGCAAGAGGTGACCTGCATGGGAACTGGGGCCTGAAGAGACATCACTAAGTGGGGAAGTGTG
TCCCACAGCCAAGCTGCATGGTGGGTGGGCCGCTGGGTCTGCTTCCAGTGTGTGGTGGGACCCACAGGGAGCTGAGTTTTCCTGTTTGATTTCCCGCACC
CAGCCTGCCTGTGGCTGGCCAAGAAGGCATTGTTGAACCTCATGAGATCACAGAGGTAGCTGTGCAGGCCCCGCCCACTTCCTATAACCCTGGTTCTGGC
CGTCCCTGTGCCAAGCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTATGGGAGCTCAGGGCAGGCACCTCCCATGCTCCCGCGGGAGC
CACCAGGACATGAAGGTCATAGGCCTCTCCTCTCCTCCTCTTCCTGTTTGACCTGAATGCCCCCAGGCCAACTGCCTCAAGGATTCCATTTGAGAAGATG
CAGGCTGGGTGTGTGGGGAGCAGTAGAGGGGCTGGTGTGTGCACATATGTGCACAGCTCAGGACAGAGGCTCCCTGGACTTGGGGCGGGGGCACTAGGGC
CCCAACTCTAACCCTCGTTCTGCCCTGTTGACCTCTGCTCTCTGGACCAAAAATGGAGGACTCAGTCTAGACTAGTTCTTAGGGTCTAGGAGCCACCTTA
AGTTATGTTTATATGCAAAGGCCATTTTTCTGAGAGGCCATAGCTTTCATCAGTGTGCCAAAAAGCGTGAGATCCTCTGCTCTAAAAGCCTCTGCCCCAG
CGCTGCCTAGTTTCAGAGCCCCCGATGGCCTCACATGGGGTTTTAGAGCAGGCAGAGAAGCTGCAATGGGGCCACCAGCCAGTCCTCAGAGTCCTGGGTT
AAGGCCTCCTCTCCAGGAGGCCCTGTGTAAAGGTTTTCTCTGTTGCCTGGAGGCAGGAGTGAACTGGTAGGCAGGAAACCCTGAGGGTACCTAGGAGGCC
CCTAGCCTGTGGGTTGGGGAGGGAAGACAGGACCCCTGGGGCCACTGAAATGGTGGAGCTCTCAGAGACCTGAGTTCTGGTCCCTTCTGCCACTTTTTGG
GCAGATCCCGTCTTCCCACAGGCCCTGTGTCTTGCTCAGTCCACGTGACTCTGCTTTCTCATCCTAGGCCTCAGGTGGGTGGCAGGCCCTTTCCTGCTTG
CCCTCTGCCCTCCCTCTCTCTGGCCCTGCCCAGTCTCTGCCAATCTGTGTACCTCCCAGGAGCCGGGACACTCCCTGAGTCCTCTGGGAGCCCTTAAGCC
ACACTGAGAACACAGACCCTGGGAGAAGCAGCCAGCAGTGAGGAATCCTGGAACCCCTTCCCAGGGAGAGCCTTCCCATGACCCCCATGAAGAGATCAGT
GCAAACACAGGTGTCAGAGCCCTTCATGGAGTCCTGGGGTGAGGAGTCCCTGCCGGAGCTACCCGCAGAGCAGTCCCTGACGGAGTACTCTGACCTCGAG
GAGGCTCCCTCGGCGCACACTCTCTATGTGGGCCATCTGAACCCCCAGTTCTCAGTGCCGGTGCTTGCCTGCCTGCTGCGAGACACCCTGGAGCGGCTGG
AGATGCCGGTGGCGCGGGAGCACATTGAAGTGGTGAGGCGGCCGCGGAAGGCCTATGCACTGGTGCAGGTGACTGTCCACAGGGACACCCTGGCCTCCCT
CCCCTGGCGCCTGCAGACGGCCCTGGAGGAGCACCTAATCCTCAAGGAGCTGGCAGCCCGTGGGAAGGACCTGCTATTGAGTGAGGCCCAAGGGCCCTTC
AGCCACAGAGAGGAGAAGGAGGAGGAGGAGGAGGACAGTGGCCTGAGCCCTGGCCCCAGTCCAGGCTCTGGTGTCCCGCTGCCCACCTGGCCTACACACA
CGCTGCCTGATAGGCCCCAGGCCCAGCAGCTGCAGAGCTGCCAGGGCCGGCCCAGCGGCGTGTGCTCCGACAGTGCCATTGTGCACCAGCAGATCGTGGG
CAAGGACCAGCTCTTCCAGGGTGCCTTCCTGGGCAGCGAGACCCGCAATATGGAGTTCAAGCGGGGTAGCGGCGAGTACCTCAGCCTGGCCTTCAAGCAC
CACGTGCGGCGCTACGTGTGCGCCTTCCTCAACAGCGAGGGCGGCAGCCTGCTCGTGGGAGTAGAGGACAGCGGCCTGGTGCAGGGCATCCGCTGCAGCC
ACCGTGACGAGGACCGCGCACGCCTGCTGGTGGACTCCATCCTGCAGGGCTTCAAGCCTCAGATCTTTCCCGATGCCTACACTCTCACCTTCATCCCTGT
GATCAGTACCTCGGAGACCAGCGTCCCCCTCAAGGTGATCCGCCTGACCGTGCACACCCCCAAGGCCCAGAGCCAGCCGCAACTCTACCAGACAGACCAG
GGGGAGGTGTTTCTGCGGCGCGACGGGAGCATCCAGGGCCCGCTGTCTGCCAGCGCCATCCAGGAGTGGTGCAGGCAGAGGTGGCTGGTGGAGCTGGGCA
AGCTGGAAGAGAAGATGAAGGCGCTGATGATGGAGAAGGAGCAGCTCCAGCAGCAGCTGCAGCAGCACGGGCCTGTGTCCTGCACCTGCTGTGTCCTGTG
AGGGCCCTGGGGAGCAGGCAGGACGGCACGGCACTCTCCACCTGAGACCCAGGGATTTCCTGTTTGAGTGTAAGGCCAACCAGTAAAGCCCATGCGGGCT
GCTGAGAGGCGGACAGGGACTCCTTCAACATGGCACATGAGCAGGCACCCATGTGGCTTCAACCCTGACAGACCCATCTGTGTAGCCAAGAAACTGCTCT
CAGCCCTGTCCCCAAATGACCTTACTTTCAGAAAGAATGTGTAAAACCCTGCCCAGAGCTCCCCTAGGGCTAAGCTATAAGGGATTGTCCTTCTCCCTAA
AATGCTCATTTGGCCCAGGCTGAGGTCTGTGACTCCAGTTGGCTACACAGTGCCAGAAAGGAATCTGTCATCTCAGGAAAGCCCCTCAAAGATGGCGAGG
CATATTTGATGACTGTGGTTACAGGGCAAGAGGCCACCCTGCAGCCCCCACCCCTGACTTGCTGGAACTTGTGACTGTCAAAGCTCCATTAATAAATTAC
ATGCACCTGG

Protein Sequence    (SEQ ID NO:1125):
MTPMKRSVQTQVSEPFMESWGEESLPELPAEQSLTEYSDLEEAPSAHTLYVGHLNPQFSVPVLACLLRDTLERLEMPVAREHIEVVRRPRKAYALVQVTV
HRDTLASLPWRLQTALEEHLILKELAARGKDLLLSEAQGPFSHREEKEEEEEDSGLSPGPSPGSGVPLPTWPTHTLPDRPQAQQLQSCQGRPSGVCSDSA
IVHQQIVGKDQLFQGAFLGSETRNMEFKRGSGEYLSLAFKHHVRRYVCAFLNSEGGSLLVGVEDSGLVQGIRCSHRDEDRARLLVDSILQGFKPQIFPDA
YTLTFIPVISTSETSVPLKVIRLTVHTPKAQSQPQLYQTDQGEVFLRRDGSIQGPLSASAIQEWCRQRWLVELGKLEEKMKALMMEKEQLQQQLQQHGPV
SCTCCVL


SNP Information

Context             (SEQ ID NO:7959):
TATACTTTCTAATACTATTACCTAATACTAGAGAGCCAGAGACACCGTAAATAACCTTGTTATCTTATATTTATGTATTTAAAAGATGGTTCATAAATGT
Y
TTTAGTGCTTACCATGAAAGACAATTTTTACCCCCATCTCCAAAAAGAAGTAGAACTGATTCAGCTCACAGAAGGCTGTTAAAGGCGCCAGAGAAATATG
Celera SNP ID:            hCV42611
SNP Position Transcript:  134
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,14)   total(C,29|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1125, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;JBIC-allele(T,362|C,1109)   total(C,1109|T,362)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1125, None   



Context             (SEQ ID NO:7960):
GGCTTGAGGGAGAGGGGGTGAGGCAGGGGGAGCTTGGAGCCGTCATTCTCTAACCCTAAGAGCTGTGGACACAAAGCCGAGCCCAACCTGGCTGCTGCCC
Y
GGCGGGCAAGGAGAGGGCACCGAATGCACTCTCCCCAGAGCCTCGCACTGCCACCAGTTGAGGCCTGCGCCCCTCTCTTCCCCGCACACCATAGCCTCTT
Celera SNP ID:            hCV25973647
SNP Position Transcript:  609
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1125, 134, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7961):
CATCCTTACTGCCCCCAATTGGGGCTTCCAGAAGCAGTGTGGGCAAGCGCTGCCAGCCTTCTGCAGAATGATGAGCACTGGTCAGTCCTGTGCTGATAAA
K
ACTGTGTGTCACCCACGTCTTGGTTTCTCCAACAGCAGGTAACAACCTCATCTTCCCAAAGAGATAGATAGCTACGCCTGACCTATTTTTCAGGGCTCTT
Celera SNP ID:            hCV28972834
SNP Position Transcript:  953
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1125, 248, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:7962):
GCTTGGAGCCGTCATTCTCTAACCCTAAGAGCTGTGGACACAAAGCCGAGCCCAACCTGGCTGCTGCCCGGGCGGGCAAGGAGAGGGCACCGAATGCACT
S
TCCCCAGAGCCTCGCACTGCCACCAGTTGAGGCCTGCGCCCCTCTCTTCCCCGCACACCATAGCCTCTTTTCTTGAGTGCTCTACCCAAACTACTGCCTC
Celera SNP ID:            hCV25973714
SNP Position Transcript:  640
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,8|G,28)   total(C,12|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1125, 144, (T,ACA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,215|G,1054)   total(G,1054|C,215) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1125, 144, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:7963):
GTGAGGCAGGGGGAGCTTGGAGCCGTCATTCTCTAACCCTAAGAGCTGTGGACACAAAGCCGAGCCCAACCTGGCTGCTGCCCGGGCGGGCAAGGAGAGG
R
CACCGAATGCACTCTCCCCAGAGCCTCGCACTGCCACCAGTTGAGGCCTGCGCCCCTCTCTTCCCCGCACACCATAGCCTCTTTTCTTGAGTGCTCTACC
Celera SNP ID:            hCV25973692
SNP Position Transcript:  626
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,40)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1125, 139, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:7964):
AGCTCACAGAAGGCTGTTAAAGGCGCCAGAGAAATATGTGATGCAGTGGCTTAAAGAGACTGCCAGGAAGAGTGGGGAAAGTTGCTGCACTCAAGTCAAT
R
TGGGAAATTTCATGCAGAACAGCCACCCAATAGCAAGGCCTCTAGGTAAGTAGGGAGAACGCCTCTGGTCATGTTCAGGTGTTTCGTCTGTCAAGGTGCT
Celera SNP ID:            hCV11740026
SNP Position Transcript:  297
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,6|G,32)   total(A,10|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1125, 30, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1125, 30, (T,ACA)   (A,GCA)      



Gene Number:                 165
Celera Gene:                 hCG22870 - 30000023468320
Celera Transcript:           hCT13968 - 30000023468321
Public Transcript Accession: NM_144990
Celera Protein:              hCP40307 - 30000023468311
Public Protein Accession:    NP_659427
Gene Symbol:                 FLJ23878
Protein Name:                hypothetical protein FLJ23878
Celera Genomic Axis:         GA_x5YUV32W802(42114595..42120742)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:429):
TCTGGCCGTCCCTGYGCCAMGCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTATSGGAGCTCAGGGCAGGCACCMCCCATGCTCCCGC
GGGAGCCACCAGGACATGAAGATCCCGTCTTCCCACAGGCCCTGTGTCTTGCTCAGTCCACGTGACTCTGCTTTCTCATCCYAGGCCTCAGGAGCCGGGA
CACTCCCTGAGTCCTCTGGGAGCCCTTAAGCCACACTGAGAACACAGACCCTGGGAGAAGCAGCCAGCAGTGAGGAATCCTGGAACCCCTTCCCAGGGAG
AGCCTTCCCATGACCCCCATGAAGAGATCAGTGCAAACACAGGTRTCAGAGCCCTTCATGGAGTCCTGGGGTGAGGAGTCCCTGCCGGAGCTACCCGCAG
AGCAGTCCCTGACGGAGTACTCTGACCTCGAGGAGGCTCCCTCGGCGCACACTCTCTATGTGGGCCATCTGAACCCCCAGTTCTCAGTGCCGGTGCTTGC
CTGCCTGCTGCGAGACACCCTGGAGCGGCTGGAGATGCCGGTGGCGCGGGAGCACATTGAAGTGGTGAGGCGGCCGCGGAAGGCCTATGCACTGGTGCAG
GTGACTGTCCACAGGGACACCCTGGCCTCCCTCCCCTGGCGCCTGCAGACGGCCCTYGAGGAGCACCTAATCCRCAAGGAGCTGGCASCCCGTGGGAAGG
ACCTGCTATTGAGTGAGGCCCAAGGGCCCTTCAGCCACAGMGAGCAGATCGTGGGCAAGGACCAGCTCTTCCAGGGTGCCTTCCTGGGCAGCGAGACCCG
CAATATGGAGTTCAAGCGGGGTAGCGGCGAGTACCTCAGCCTGGCCTTCAAGCACCACGTGCGGCGCTACGTGTGCGCCTTCCTCAACAGCGAGGGCGGC
AGCCTGCTCGTGGGAGTAGAGGACAGCGGCCTGGTGCAGGGCATCCGCTGCAGCCACCGTGACGAGGACCGCGCACGCCTGCTGGTGGACTCCATCCTGC
AGGGCTTCAAGCCTCAGATCTTTCCCGATGCCTACACTCTCACCTTCATCCCTGTGATCAGTACCTCGGAGACCAGCGTCCCCCTCAAGGTGATCCGCCT
GACCGTGCACACCCCCAAGGCCCAGAGCCAGCCGCAACTCTACCAGACAGACCAGGGGGAGGTGTTTCTGCGGCGCGACGGGAGCATCCAGGGCCCGCTG
TCTGCCAGCGCCATCCAGGAGTGGTGCAGGCAGAGGTGGCTGGTGGAGCTGGGCAAGCTGGAAGAGAAGATGAAGGCGCTGATGATGGAGAAGGAGCAGC
TCCAGCAGCAGCTGCAGCAGCACGGGCCTGTGTCCTGCACCTGCTGTGTCCTGTGAGGGCCCTGGGGAGCAGGCAGGACGGCACGGCACTCTCCACCTGA
GACCCAGGGATTTCCTGTTTGAGTGTAAGGCCAACCAGTAAAGCCCATGCGGGCTGCTGAGAGGCGGACAGGGACTCCTTCAACATGGCACATGAGCAGG
CACCCATGTGGCTTCAACCCTGACAGACCCATCTGTGTAGCCAAGAAACTGCTCTCAGCCCTGTCCCCAAATGACCTTACTTTCAGAAAGAATGTGTAAA
ACCCTGCCCAGAGCTCCCCTAGGGCTAAGCTATAAGGGATTGTCCTTCTCCCTAAAATGCTCATTTGGCCCAGGCTGAGGTCTGTGACTCCAGTTGGCTA
CACAGTGCCAGAAASGAATCTGTCATCTCAGGAAAGCCCCTCAAAGATGGCGAGGCATATTTGATGACTGTGGTTACAGGGCAAGAGGCCACCCTGCAGC
CCCCACCCCTGACTTGCTGGAACTTGTGACTGTCAAAGCTCCATTAATAAATTACATGCACCTGG

Protein Sequence    (SEQ ID NO:1126):
MTPMKRSVQTQVSEPFMESWGEESLPELPAEQSLTEYSDLEEAPSAHTLYVGHLNPQFSVPVLACLLRDTLERLEMPVAREHIEVVRRPRKAYALVQVTV
HRDTLASLPWRLQTALEEHLILKELAARGKDLLLSEAQGPFSHREQIVGKDQLFQGAFLGSETRNMEFKRGSGEYLSLAFKHHVRRYVCAFLNSEGGSLL
VGVEDSGLVQGIRCSHRDEDRARLLVDSILQGFKPQIFPDAYTLTFIPVISTSETSVPLKVIRLTVHTPKAQSQPQLYQTDQGEVFLRRDGSIQGPLSAS
AIQEWCRQRWLVELGKLEEKMKALMMEKEQLQQQLQQHGPVSCTCCVL


SNP Information

Context             (SEQ ID NO:7965):
TGCACTGGTGCAGGTGACTGTCCACAGGGACACCCTGGCCTCCCTCCCCTGGCGCCTGCAGACGGCCCTGGAGGAGCACCTAATCCTCAAGGAGCTGGCA
S
CCCGTGGGAAGGACCTGCTATTGAGTGAGGCCCAAGGGCCCTTCAGCCACAGAGAGCAGATCGTGGGCAAGGACCAGCTCTTCCAGGGTGCCTTCCTGGG
Celera SNP ID:            hCV25973714
SNP Position Transcript:  688
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,8|G,28)   total(C,12|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1126, 144, (T,ACA)   (R,AGA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,215|G,1054)   total(G,1054|C,215) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1126, 144, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:7966):
TCTGGCCGTCCCTG
Y
GCCAAGCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTATGGGAGCTCAGGGCAGGCACCTCCCATGCTCCCGCGGGAGCCACCAGGAC
Celera SNP ID:            hCV27843486
SNP Position Transcript:  15
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None



Context             (SEQ ID NO:7967):
CAGACCCTGGGAGAAGCAGCCAGCAGTGAGGAATCCTGGAACCCCTTCCCAGGGAGAGCCTTCCCATGACCCCCATGAAGAGATCAGTGCAAACACAGGT
R
TCAGAGCCCTTCATGGAGTCCTGGGGTGAGGAGTCCCTGCCGGAGCTACCCGCAGAGCAGTCCCTGACGGAGTACTCTGACCTCGAGGAGGCTCCCTCGG
Celera SNP ID:            hCV11740026
SNP Position Transcript:  345
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,6|G,32)   total(A,10|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1126, 30, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1126, 30, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:7968):
GCACCTCCCATGCTCCCGCGGGAGCCACCAGGACATGAAGATCCCGTCTTCCCACAGGCCCTGTGTCTTGCTCAGTCCACGTGACTCTGCTTTCTCATCC
Y
AGGCCTCAGGAGCCGGGACACTCCCTGAGTCCTCTGGGAGCCCTTAAGCCACACTGAGAACACAGACCCTGGGAGAAGCAGCCAGCAGTGAGGAATCCTG
Celera SNP ID:            hCV42611
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(C,15|T,1)   caucasian(C,14)   total(C,29|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,2)      total(C,1|T,2) ;JBIC-allele(T,362|C,1109)   total(C,1109|T,362)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None   



Context             (SEQ ID NO:7969):
TTGAAGTGGTGAGGCGGCCGCGGAAGGCCTATGCACTGGTGCAGGTGACTGTCCACAGGGACACCCTGGCCTCCCTCCCCTGGCGCCTGCAGACGGCCCT
Y
GAGGAGCACCTAATCCTCAAGGAGCTGGCAGCCCGTGGGAAGGACCTGCTATTGAGTGAGGCCCAAGGGCCCTTCAGCCACAGAGAGCAGATCGTGGGCA
Celera SNP ID:            hCV25973647
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,1|T,39)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1126, 134, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:7970):
GCCTGCAGACGGCCCTGGAGGAGCACCTAATCCTCAAGGAGCTGGCAGCCCGTGGGAAGGACCTGCTATTGAGTGAGGCCCAAGGGCCCTTCAGCCACAG
M
GAGCAGATCGTGGGCAAGGACCAGCTCTTCCAGGGTGCCTTCCTGGGCAGCGAGACCCGCAATATGGAGTTCAAGCGGGGTAGCGGCGAGTACCTCAGCC
Celera SNP ID:            hCV25968842
SNP Position Transcript:  741
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,35)   caucasian(C,40)   total(A,1|C,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1126, 162, (T,ACA)   (P,CCA)   



Context             (SEQ ID NO:7971):
TCTGGCCGTCCCTGTGCCA
M
GCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTATGGGAGCTCAGGGCAGGCACCTCCCATGCTCCCGCGGGAGCCACCAGGACATGAA
Celera SNP ID:            hCV42612
SNP Position Transcript:  20
SNP Source:               Applera
Population(Allele,Count): african american(A,3|C,35)   caucasian(A,10|C,28)   total(A,13|C,63)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,6)   total(A,1|C,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None   



Context             (SEQ ID NO:7972):
TCCCCTAGGGCTAAGCTATAAGGGATTGTCCTTCTCCCTAAAATGCTCATTTGGCCCAGGCTGAGGTCTGTGACTCCAGTTGGCTACACAGTGCCAGAAA
S
GAATCTGTCATCTCAGGAAAGCCCCTCAAAGATGGCGAGGCATATTTGATGACTGTGGTTACAGGGCAAGAGGCCACCCTGCAGCCCCCACCCCTGACTT
Celera SNP ID:            hCV8361260
SNP Position Transcript:  1715
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1126, None   



Context             (SEQ ID NO:7973):
TCTGGCCGTCCCTGTGCCAAGCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTAT
S
GGAGCTCAGGGCAGGCACCTCCCATGCTCCCGCGGGAGCCACCAGGACATGAAGATCCCGTCTTCCCACAGGCCCTGTGTCTTGCTCAGTCCACGTGACT
Celera SNP ID:            hCV27851393
SNP Position Transcript:  67
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,40)   total(C,3|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None



Context             (SEQ ID NO:7974):
TCTGGCCGTCCCTGTGCCAAGCCTCCAAGTTCCCTGAGAGCTACCGGCCAGGGGTCGGGAGGCTATGGGAGCTCAGGGCAGGCACC
M
CCCATGCTCCCGCGGGAGCCACCAGGACATGAAGATCCCGTCTTCCCACAGGCCCTGTGTCTTGCTCAGTCCACGTGACTCTGCTTTCTCATCCTAGGCC
Celera SNP ID:            hCV27849423
SNP Position Transcript:  87
SNP Source:               Applera
Population(Allele,Count): african american(A,5|C,31)   caucasian(A,7|C,33)   total(A,12|C,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1126, None



Context             (SEQ ID NO:7975):
CCGCGGAAGGCCTATGCACTGGTGCAGGTGACTGTCCACAGGGACACCCTGGCCTCCCTCCCCTGGCGCCTGCAGACGGCCCTGGAGGAGCACCTAATCC
R
CAAGGAGCTGGCAGCCCGTGGGAAGGACCTGCTATTGAGTGAGGCCCAAGGGCCCTTCAGCCACAGAGAGCAGATCGTGGGCAAGGACCAGCTCTTCCAG
Celera SNP ID:            hCV25973692
SNP Position Transcript:  674
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,40)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1126, 139, (G,GGA)   (G,GGG)   



Gene Number:                 166
Celera Gene:                 hCG22884 - 145000147690296
Celera Transcript:           hCT13982 - 145000147690297
Public Transcript Accession: NM_022747
Celera Protein:              hCP41753 - 197000069391095
Public Protein Accession:    NP_073584
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(46757152..46787597)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:430):
AGGTCCCCGACATTCCATATACAAGATGGCCGCAGTCGGCAAGGAGAGACGTCGCTGAGGGGCTTGCCTGAAGCGAGGGGTGAGATTCTAACATTTTCAG
AGAACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTCRGTAACTTCAGCAAACCTGGACCACACAAAGCC
ATGTTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCACCGAGGCCCGGTACCGCCGAGAGGGCGCTCGG
TTCATCTTTGATGTGGGCACACGTTTGGGGCTACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGC
AATTCCCAAGATATGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAAAAAAATGTAAAGATATCATCAAAACAGCTCGTAG
TTTATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTA
CAGGTAGAACATCCATACCAGTTCCTACTWAAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTG
TAAATGACAGTCTCTGCACCACCTTGTCACTGCAGTGGGAACCAGAGATCATAGCAGTAGCAGTGATGTATCTCGCAGGACGTTTGTGCAAATTTGAAAT
ACAAGAATGGACCTCCAAACCCATGTATAGGAGATGGTGGGAGCAGTTTGTTCAAGATGTCCCGGTCGACGTTTTGGAAGACATCTGCCACCAAATCCTG
GATCTTTACTCACAAGGAAAACAACAGATGCCTCATCACACCCCCCATCAGCTGCAACAGCCCCCATCTCTTCAGCCTACACCACAAGTGCCGCAAGTAC
AGCAGTCACAGCCGTCTCAAAGCTCCGAACCATCCCAGCCCCAGCAGAAGGACCCCCAGCAACCAGCCCAGCAGCAGCAGCCAGCCCAACAGCCCAAGAA
ACCCTCTCCGCAGCCCAGTTCTCCCCGACAGGTTAAGCGAGCCGTGGTTGTTTCTCCCAAAGAAGAGAACAAAGCAGCAGAACCACCACCACCTAAAATC
CCCAAAATTGAGACCACTCATCCACCGTTGCCTCCAGCCCACCCACCTCCAGACCGGAAGCCTCCCCTCGCTGCTGCCTTAGGTGAGGCTGAGCCGCCGG
GCCCTGTGGATGCCACTGACCTCCCCAAAGTCCAGATTCCCCCTCCGGCCCACCCGGCCCCTGTGCACCAGCCACCGCCGCTGCCACACCGGCCCCCGCC
CCCACCCCCCTCCAGCTACATGACCGGGATGTCCACCACCAGCTCCTACATGTCTGGAGAGGGCTACCAGAGCCTGCAGTCCATGATGAAGACCGAGGGA
CCCTCCTACGGTGCCCTGCCCCCCGCCTACGGCCCACCTGCACACCTGCCCTACCACCCCCATGTCTACCCGCCCAACCCGCCCCCGCCACCTGTGCCTC
CTCCCCCAGCCTCCTTCCCCCCACCTGCCATCCCACCCCCTACTCCTGGCTACCCCCCACCCCCACCCACCTACAACCCCAATTTCCCACCCCCACCCCC
ACGCCTCCCGCCTACCCACGCAGTCCCCCCTCATCCTCCTCCAGGGTTGGGCCTGCCGCCAGCCAGCTACCCACCTCCTGCCGTCCCCCCTGGAGGACAG
CCTCCTGTGCCCCCGCCCATTCCCCCACCCGGCATGCCTCCAGTTGGGGGGCTGGGGCGGGCAGCCTGGATGAGATAACGTGAGCCTTTTTTCCCTCTTT
GTTTTTTTAACAAGATTTTCTAATCGACTTGCAGAGTAGTTGAAGTGGGTAAGCAGCAGGGTACCTTGTATAATGCACGACAGTTGCAGTATGGGAAGAA
TGGACCGGGCCCCTGGGATAAAATCAGAGTGGTCCTCACACCTAGAGGACGGGGACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGAC
TGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATAMTAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCG
GTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAATTTTAAATAGTCCAATTCCATCTGAAGCCAAGCTGTTGTCATTTTC
ATTCGGTGACATTCTCTCCCATGACACCCAGAAGGGGCAGAAGAACCACATTTTTCATTTATAGATGTTTGCATCCTTTGTATTAAAATTATTTTGAAGG
GGTTGCCTCATTGGATGGCTTTTTTTTTTTCCTCCAGGGAGAAGGGGAGAAATGTACTTGGAAATTAATGTATGTTTACATCTCTTTGCAAATTCCTGTA
CATAGAGATATATTTTTTAAGTGTGAATGTAACAACATACTGTGAATTCCATCTTGGTTACAAATGAGACTCCTTCAGTCAGTTATCCAAATAAAAGCAG
TTCTGAAACTATCCCTTTCTTTGTTATGGGTGGAAGGTGGGGCTCCAGGCCTTCGCAGTCTGTGGCTTATAAAATGTGCAGAGGCCCTCCTTCCAGACCC
TGGGGACGCGGGAGAGGCCTGGCTGCAGCTCACAGCAGCCACAGCCAACCCCACTGCCTCCCAAGGCACTCTGGGTGGATCCGCACAGCTGCCTGCCAAG
CCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAACRCA
CACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG

Protein Sequence    (SEQ ID NO:1127):
MKENKENSSPSVTSANLDHTKPCWYWDKKDLAHTPSQLEGLDPATEARYRREGARFIFDVGTRLGLHYDTLATGIIYFHRFYMFHSFKQFPRYVTGACCL
FLAGKVEETPKKCKDIIKTARSLLNDVQFGQFGDDPKEEVMVLERILLQTIKFDLQVEHPYQFLLKYAKQLKGDKNKIQKLVQMAWTFVNDSLCTTLSLQ
WEPEIIAVAVMYLAGRLCKFEIQEWTSKPMYRRWWEQFVQDVPVDVLEDICHQILDLYSQGKQQMPHHTPHQLQQPPSLQPTPQVPQVQQSQPSQSSEPS
QPQQKDPQQPAQQQQPAQQPKKPSPQPSSPRQVKRAVVVSPKEENKAAEPPPPKIPKIETTHPPLPPAHPPPDRKPPLAAALGEAEPPGPVDATDLPKVQ
IPPPAHPAPVHQPPPLPHRPPPPPPSSYMTGMSTTSSYMSGEGYQSLQSMMKTEGPSYGALPPAYGPPAHLPYHPHVYPPNPPPPPVPPPPASFPPPAIP
PPTPGYPPPPPTYNPNFPPPPPRLPPTHAVPPHPPPGLGLPPASYPPPAVPPGGQPPVPPPIPPPGMPPVGGLGRAAWMR


SNP Information

Context             (SEQ ID NO:7976):
AAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAAC
R
CACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG
Celera SNP ID:            hCV25988912
SNP Position Transcript:  2898
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,1|G,37)   total(A,3|G,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1127, None



Context             (SEQ ID NO:7977):
ACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATA
M
TAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAAT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  2155
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1127, None   



Context             (SEQ ID NO:7978):
CTGAAGCGAGGGGTGAGATTCTAACATTTTCAGAGAACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTC
R
GTAACTTCAGCAAACCTGGACCACACAAAGCCATGTTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCA
Celera SNP ID:            hCV15859124
SNP Position Transcript:  168
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1127, 11, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:7979):
TTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAGGTAGAACATCCATACCAGTTCCTACT
W
AAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAAATGACAGTCTCTGCACCACCTTGTCAC
Celera SNP ID:            hCV15859150
SNP Position Transcript:  630
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1127, 165, (L,CTA)   (L,CTT)      



Gene Number:                 166
Celera Gene:                 hCG22884 - 145000147690296
Celera Transcript:           hCT2329481 - 145000147690341
Public Transcript Accession: NM_022747
Celera Protein:              hCP1867964 - 197000069391098
Public Protein Accession:    NP_073584
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(46757186..46787597)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:431):
GTCGGCAAGGAGAGACGTCGCTGAGGGGCTTGCCTGAAGCGAGGGGTGAGTGACCCACCGACTGAGGGCAGCGCCGCCCACCTCCCGCGTATCTGGAGGT
CGGAGTAGGTTATGGCCAACCGCCGCTATCCACTGGCGGAGTCTCTCTTTCCGGATTCTGCCTCCCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGA
ACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTCRGTAACTTCAGCAAACCTGGACCACACAAAGCCATG
TTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCACCGAGGCCCGGTACCGCCGAGAGGGCGCTCGGTTC
ATCTTTGATGTGGGCACACGTTTGGGGCTACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAAT
TCCCAAGATATGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAAAAAAATGTAAAGATATCATCAAAACAGCTCGTAGTTT
ATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAG
GTAGAACATCCATACCAGTTCCTACTWAAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAA
ATGACAGTCTCTGCACCACCTTGTCACTGCAGTGGGAACCAGAGATCATAGCAGTAGCAGTGATGTATCTCGCAGGACGTTTGTGCAAATTTGAAATACA
AGAATGGACCTCCAAACCCATGTATAGGAGATGGTGGGAGCAGTTTGTTCAAGATGTCCCGGTCGACGTTTTGGAAGACATCTGCCACCAAATCCTGGAT
CTTTACTCACAAGGAAAACAACAGATGCCTCATCACACCCCCCATCAGCTGCAACAGCCCCCATCTCTTCAGCCTACACCACAAGTGCCGCAAGTACAGC
AGTCACAGCCGTCTCAAAGCTCCGAACCATCCCAGCCCCAGCAGAAGGACCCCCAGCAACCAGCCCAGCAGCAGCAGCCAGCCCAACAGCCCAAGAAACC
CTCTCCGCAGCCCAGTTCTCCCCGACAGGTTAAGCGAGCCGTGGTTGTTTCTCCCAAAGAAGAGAACAAAGCAGCAGAACCACCACCACCTAAAATCCCC
AAAATTGAGACCACTCATCCACCGTTGCCTCCAGCCCACCCACCTCCAGACCGGAAGCCTCCCCTCGCTGCTGCCTTAGGTGAGGCTGAGCCGCCGGGCC
CTGTGGATGCCACTGACCTCCCCAAAGTCCAGATTCCCCCTCCGGCCCGGGATGTCCACCACCAGCTCCTACATGTCTGGAGAGGGCTACCAGAGCCTGC
AGTCCATGATGAAGACCGAGGGACCCTCCTACGGTGCCCTGCCCCCCGCCTACGGCCCACCTGCACACCTGCCCTACCACCCCCATGTCTACCCGCCCAA
CCCGCCCCCGCCACCTGTGCCTCCTCCCCCAGCCTCCTTCCCCCCACCTGCCATCCCACCCCCTACTCCTGGCTACCCCCCACCCCCACCCACCTACAAC
CCCAATTTCCCACCCCCACCCCCACGCCTCCCGCCTACCCACGCAGTCCCCCCTCATCCTCCTCCAGGGTTGGGCCTGCCGCCAGCCAGCTACCCACCTC
CTGCCGTCCCCCCTGGAGGACAGCCTCCTGTGCCCCCGCCCATTCCCCCACCCGGCATGCCTCCAGTTGGGGGGCTGGGGCGGGCAGCCTGGATGAGATA
ACGTGAGCCTTTTTTCCCTCTTTGTTTTTTTAACAAGATTTTCTAATCGACTTGCAGAGTAGTTGAAGTGGGTAAGCAGCAGGGTACCTTGTATAATGCA
CGACAGTTGCAGTATGGGAAGAATGGACCGGGCCCCTGGGATAAAATCAGAGTGGTCCTCACACCTAGAGGACGGGGACAACCAGCTTTCAGAGTAGCCT
CATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATAMTAGTGAGGACGTTAACCAGCCA
TATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAATTTTAAATAGTCCAATTCCATCT
GAAGCCAAGCTGTTGTCATTTTCATTCGGTGACATTCTCTCCCATGACACCCAGAAGGGGCAGAAGAACCACATTTTTCATTTATAGATGTTTGCATCCT
TTGTATTAAAATTATTTTGAAGGGGTTGCCTCATTGGATGGCTTTTTTTTTTTCCTCCAGGGAGAAGGGGAGAAATGTACTTGGAAATTAATGTATGTTT
ACATCTCTTTGCAAATTCCTGTACATAGAGATATATTTTTTAAGTGTGAATGTAACAACATACTGTGAATTCCATCTTGGTTACAAATGAGACTCCTTCA
GTCAGTTATCCAAATAAAAGCAGTTCTGAAACTATCCCTTTCTTTGTTATGGGTGGAAGGTGGGGCTCCAGGCCTTCGCAGTCTGTGGCTTATAAAATGT
GCAGAGGCCCTCCTTCCAGACCCTGGGGACGCGGGAGAGGCCTGGCTGCAGCTCACAGCAGCCACAGCCAACCCCACTGCCTCCCAAGGCACTCTGGGTG
GATCCGCACAGCTGCCTGCCAAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTT
GAAGCCTTGCTGCGTAGAACRCACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG

Protein Sequence    (SEQ ID NO:1128):
MKENKENSSPSVTSANLDHTKPCWYWDKKDLAHTPSQLEGLDPATEARYRREGARFIFDVGTRLGLHYDTLATGIIYFHRFYMFHSFKQFPRYVTGACCL
FLAGKVEETPKKCKDIIKTARSLLNDVQFGQFGDDPKEEVMVLERILLQTIKFDLQVEHPYQFLLKYAKQLKGDKNKIQKLVQMAWTFVNDSLCTTLSLQ
WEPEIIAVAVMYLAGRLCKFEIQEWTSKPMYRRWWEQFVQDVPVDVLEDICHQILDLYSQGKQQMPHHTPHQLQQPPSLQPTPQVPQVQQSQPSQSSEPS
QPQQKDPQQPAQQQQPAQQPKKPSPQPSSPRQVKRAVVVSPKEENKAAEPPPPKIPKIETTHPPLPPAHPPPDRKPPLAAALGEAEPPGPVDATDLPKVQ
IPPPARDVHHQLLHVWRGLPEPAVHDEDRGTLLRCPAPRLRPTCTPALPPPCLPAQPAPATCASSPSLLPPTCHPTPYSWLPPTPTHLQPQFPTPTPTPP
AYPRSPPSSSSRVGPAASQLPTSCRPPWRTASCAPAHSPTRHASSWGAGAGSLDEIT


SNP Information

Context             (SEQ ID NO:7980):
AAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAAC
R
CACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG
Celera SNP ID:            hCV25988912
SNP Position Transcript:  2921
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,1|G,37)   total(A,3|G,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1128, None



Context             (SEQ ID NO:7981):
ACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATA
M
TAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAAT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  2178
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1128, None   



Context             (SEQ ID NO:7982):
CCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGAACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTC
R
GTAACTTCAGCAAACCTGGACCACACAAAGCCATGTTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCA
Celera SNP ID:            hCV15859124
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1128, 11, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:7983):
TTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAGGTAGAACATCCATACCAGTTCCTACT
W
AAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAAATGACAGTCTCTGCACCACCTTGTCAC
Celera SNP ID:            hCV15859150
SNP Position Transcript:  727
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1128, 165, (L,CTA)   (L,CTT)      



Gene Number:                 166
Celera Gene:                 hCG22884 - 145000147690296
Celera Transcript:           hCT2329480 - 145000147690357
Public Transcript Accession: NM_022747
Celera Protein:              hCP1867965 - 197000069391099
Public Protein Accession:    NP_073584
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(46757186..46787597)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:432):
GTCGGCAAGGAGAGACGTCGCTGAGGGGCTTGCCTGAAGCGAGGGGTGAGTGACCCACCGACTGAGGGCAGCGCCGCCCACCTCCCGCGTATCTGGAGGT
CGGAGTAGGTTATGGCCAACCGCCGCTATCCACTGGCGGAGTCTCTCTTTCCGGATTCTGCCTCCCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGA
ACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTCRGTAACTTCAGCAAACCTGGACCACACAAAGCCATG
TTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCACCGAGGCCCGGTACCGCCGAGAGGGCGCTCGGTTC
ATCTTTGATGTGGGCACACGTTTGGGGCTACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAAT
TCCCAAGATATGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAAAAAAATGTAAAGATATCATCAAAACAGCTCGTAGTTT
ATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAG
GTAGAACATCCATACCAGTTCCTACTWAAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAA
ATGACAGTCTCTGCACCACCTTGTCACTGCAGTGGGAACCAGAGATCATAGCAGTAGCAGTGATGTATCTCGCAGGACGTTTGTGCAAATTTGAAATACA
AGAATGGACCTCCAAACCCATGTATAGGAGATGGTGGGAGCAGTTTGTTCAAGATGTCCCGGTCGACGTTTTGGAAGACATCTGCCACCAAATCCTGGAT
CTTTACTCACAAGGAAAACAACAGATGCCTCATCACACCCCCCATCAGCTGCAACAGCCCCCATCTCTTCAGCCTACACCACAAGTGCCGCAAGTACAGC
AGTCACAGCCGTCTCAAAGCTCCGAACCATCCCAGCCCCAGCAGAAGGACTCCCCCCTCATCCTCCTCCAGGGTTGGGCCTGCCGCCAGCCAGCTACCCA
CCTCCTGCCGTCCCCCCTGGAGGACAGCCTCCTGTGCCCCCGCCCATTCCCCCACCCGGCATGCCTCCAGTTGGGGGGCTGGGGCGGGCAGCCTGGATGA
GATAACGTGAGCCTTTTTTCCCTCTTTGTTTTTTTAACAAGATTTTCTAATCGACTTGCAGAGTAGTTGAAGTGGGTAAGCAGCAGGGTACCTTGTATAA
TGCACGACAGTTGCAGTATGGGAAGAATGGACCGGGCCCCTGGGATAAAATCAGAGTGGTCCTCACACCTAGAGGACGGGGACAACCAGCTTTCAGAGTA
GCCTCATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATAMTAGTGAGGACGTTAACCA
GCCATATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAATTTTAAATAGTCCAATTCC
ATCTGAAGCCAAGCTGTTGTCATTTTCATTCGGTGACATTCTCTCCCATGACACCCAGAAGGGGCAGAAGAACCACATTTTTCATTTATAGATGTTTGCA
TCCTTTGTATTAAAATTATTTTGAAGGGGTTGCCTCATTGGATGGCTTTTTTTTTTTCCTCCAGGGAGAAGGGGAGAAATGTACTTGGAAATTAATGTAT
GTTTACATCTCTTTGCAAATTCCTGTACATAGAGATATATTTTTTAAGTGTGAATGTAACAACATACTGTGAATTCCATCTTGGTTACAAATGAGACTCC
TTCAGTCAGTTATCCAAATAAAAGCAGTTCTGAAACTATCCCTTTCTTTGTTATGGGTGGAAGGTGGGGCTCCAGGCCTTCGCAGTCTGTGGCTTATAAA
ATGTGCAGAGGCCCTCCTTCCAGACCCTGGGGACGCGGGAGAGGCCTGGCTGCAGCTCACAGCAGCCACAGCCAACCCCACTGCCTCCCAAGGCACTCTG
GGTGGATCCGCACAGCTGCCTGCCAAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAA
CTTTGAAGCCTTGCTGCGTAGAACRCACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG

Protein Sequence    (SEQ ID NO:1129):
MKENKENSSPSVTSANLDHTKPCWYWDKKDLAHTPSQLEGLDPATEARYRREGARFIFDVGTRLGLHYDTLATGIIYFHRFYMFHSFKQFPRYVTGACCL
FLAGKVEETPKKCKDIIKTARSLLNDVQFGQFGDDPKEEVMVLERILLQTIKFDLQVEHPYQFLLKYAKQLKGDKNKIQKLVQMAWTFVNDSLCTTLSLQ
WEPEIIAVAVMYLAGRLCKFEIQEWTSKPMYRRWWEQFVQDVPVDVLEDICHQILDLYSQGKQQMPHHTPHQLQQPPSLQPTPQVPQVQQSQPSQSSEPS
QPQQKDSPLILLQGWACRQPATHLLPSPLEDSLLCPRPFPHPACLQLGGWGGQPG


SNP Information

Context             (SEQ ID NO:7984):
AAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAAC
R
CACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG
Celera SNP ID:            hCV25988912
SNP Position Transcript:  2325
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,1|G,37)   total(A,3|G,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1129, None



Context             (SEQ ID NO:7985):
ACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATA
M
TAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAAT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  1582
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1129, None   



Context             (SEQ ID NO:7986):
CCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGAACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTC
R
GTAACTTCAGCAAACCTGGACCACACAAAGCCATGTTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCA
Celera SNP ID:            hCV15859124
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1129, 11, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:7987):
TTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAGGTAGAACATCCATACCAGTTCCTACT
W
AAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAAATGACAGTCTCTGCACCACCTTGTCAC
Celera SNP ID:            hCV15859150
SNP Position Transcript:  727
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1129, 165, (L,CTA)   (L,CTT)      



Gene Number:                 166
Celera Gene:                 hCG22884 - 145000147690296
Celera Transcript:           hCT2329483 - 145000147690326
Public Transcript Accession: NM_022747
Celera Protein:              hCP1867963 - 197000069391097
Public Protein Accession:    NP_073584
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(46757186..46787597)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:433):
GTCGGCAAGGAGAGACGTCGCTGAGGGGCTTGCCTGAAGCGAGGGGTGAGTGACCCACCGACTGAGGGCAGCGCCGCCCACCTCCCGCGTATCTGGAGGT
CGGAGTAGGTTATGGCCAACCGCCGCTATCCACTGGCGGAGTCTCTCTTTCCGGATTCTGCCTCCCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGA
ACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTCRGTAACTTCAGCAAACCTGGACCACACAAAGCCATG
TTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCACCGAGGCCCGGTACCGCCGAGAGGGCGCTCGGTTC
ATCTTTGATGTGGGCACACGTTTGGGGCTACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAAT
TCCCAAGATATGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAAAAAAATGTAAAGATATCATCAAAACAGCTCGTAGTTT
ATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAG
GTAGAACATCCATACCAGTTCCTACTWAAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAA
ATGACAGTCTCTGCACCACCTTGTCACTGCAGTGGGAACCAGAGATCATAGCAGTAGCAGTGATGTATCTCGCAGGACGTTTGTGCAAATTTGAAATACA
AGAATGGACCTCCAAACCCATGTATAGGAGATGGTGGGAGCAGTTTGTTCAAGATGTCCCGGTCGACGTTTTGGAAGACATCTGCCACCAAATCCTGGAT
CTTTACTCACAAGGAAAACAACAGATGCCTCATCACACCCCCCATCAGCTGCAACAGCCCCCATCTCTTCAGCCTACACCACAAGTGCCGCAAGTACAGC
AGTCACAGCCGTCTCAAAGCTCCGAACCATCCCAGCCCCAGCAGAAGGACCCCCAGCAACCAGCCCAGCAGCAGCAGCCAGCCCAACAGCCCAAGAAACC
CTCTCCGCAGCCCAGTTCTCCCCGACAGGTTAAGCGAGCCGTGGTTGTTTCTCCCAAAGAAGAGAACAAAGCAGCAGAACCACCACCACCTAAAATCCCC
AAAATTGAGACCACTCATCCACCGTTGCCTCCAGCCCACCCACCTCCAGACCGGAAGCCTCCCCTCGCTGCTGCCTTAGGTGAGGCTGAGCCGCCGGGCC
CTGTGGATGCCACTGACCTCCCCAAAGTCCAGATTCCCCCTCCGGCCCACCCGGCCCCTGTGCACCAGCCACCGCCGCTGCCACACCGGCCCCCGCCCCC
ACCCCCCTCCAGCTACATGACCGGGATGTCCACCACCAGCTCCTACATGTCTGGAGAGGGCTACCAGAGCCTGCAGTCCATGATGAAGACCGAGGGACCC
TCCTACGGTGCCCTGCCCCCCGCCTACGGCCCACCTGCACACCTGCCCTACCACCCCCATGTCTACCCGCCCAACCCGCCCCCGCCACCTGTGCCTCCTC
CCCCAGCCTCCTTCCCCCCACCTGCCATCCCACCCCCTACTCCTGGCTACCCCCCACCCCCACCCACCTACAACCCCAATTTCCCACCCCCACCCCCACG
CCTCCCGCCTACCCACGCAGTCCCCCCTCATCCTCCTCCAGGGTTGGGCCTGCCGCCAGCCAGCTACCCACCTCCTGCCGTCCCCCCTGGAGGACAGCCT
CCTGTGCCCCCGCCCATTCCCCCACCCGGCATGCCTCCAGTTGGGGGGCTGGGGCGGGCAGCCTGGATGAGATAACGTGAGCCTTTTTTCCCTCTTTGTT
TTTTTAACAAGATTTTCTAATCGACTTGCAGAGTAGTTGAAGTGGGTAAGCAGCAGGGTACCTTGTATAATGCACGACAGTTGCAGTATGGGAAGAATGG
ACCGGGCCCCTGGGATAAAATCAGAGTGGTCCTCACACCTAGAGGACGGGGACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGACTGT
GTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATAMTAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCGGTA
AGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAATTTTAAATAGTCCAATTCCATCTGAAGCCAAGCTGTTGTCATTTTCATT
CGGTGACATTCTCTCCCATGACACCCAGAAGGGGCAGAAGAACCACATTTTTCATTTATAGATGTTTGCATCCTTTGTATTAAAATTATTTTGAAGGGGT
TGCCTCATTGGATGGCTTTTTTTTTTTCCTCCAGGGAGAAGGGGAGAAATGTACTTGGAAATTAATGTATGTTTACATCTCTTTGCAAATTCCTGTACAT
AGAGATATATTTTTTAAGTGTGAATGTAACAACATACTGTGAATTCCATCTTGGTTACAAATGAGACTCCTTCAGTCAGTTATCCAAATAAAAGCAGTTC
TGAAACTATCCCTTTCTTTGTTATGGGTGGAAGGTGGGGCTCCAGGCCTTCGCAGTCTGTGGCTTATAAAATGTGCAGAGGCCCTCCTTCCAGACCCTGG
GGACGCGGGAGAGGCCTGGCTGCAGCTCACAGCAGCCACAGCCAACCCCACTGCCTCCCAAGGCACTCTGGGTGGATCCGCACAGCTGCCTGCCAAGCCA
GCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAACRCACAC
AGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG

Protein Sequence    (SEQ ID NO:1130):
MKENKENSSPSVTSANLDHTKPCWYWDKKDLAHTPSQLEGLDPATEARYRREGARFIFDVGTRLGLHYDTLATGIIYFHRFYMFHSFKQFPRYVTGACCL
FLAGKVEETPKKCKDIIKTARSLLNDVQFGQFGDDPKEEVMVLERILLQTIKFDLQVEHPYQFLLKYAKQLKGDKNKIQKLVQMAWTFVNDSLCTTLSLQ
WEPEIIAVAVMYLAGRLCKFEIQEWTSKPMYRRWWEQFVQDVPVDVLEDICHQILDLYSQGKQQMPHHTPHQLQQPPSLQPTPQVPQVQQSQPSQSSEPS
QPQQKDPQQPAQQQQPAQQPKKPSPQPSSPRQVKRAVVVSPKEENKAAEPPPPKIPKIETTHPPLPPAHPPPDRKPPLAAALGEAEPPGPVDATDLPKVQ
IPPPAHPAPVHQPPPLPHRPPPPPPSSYMTGMSTTSSYMSGEGYQSLQSMMKTEGPSYGALPPAYGPPAHLPYHPHVYPPNPPPPPVPPPPASFPPPAIP
PPTPGYPPPPPTYNPNFPPPPPRLPPTHAVPPHPPPGLGLPPASYPPPAVPPGGQPPVPPPIPPPGMPPVGGLGRAAWMR


SNP Information

Context             (SEQ ID NO:7988):
AAGCCAGCCTGCCCCCATCCTGTGCCTGCCTTGGTTTCCTTTGGAGGACCTGGTTGAGTTCCAAACCAGTTTGAAACTTTGAAGCCTTGCTGCGTAGAAC
R
CACACAGGAACCCGGGGGCTTGGATTTGAAACCCTTTCCACTTCTG
Celera SNP ID:            hCV25988912
SNP Position Transcript:  2995
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,1|G,37)   total(A,3|G,43)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1130, None



Context             (SEQ ID NO:7989):
ACAACCAGCTTTCAGAGTAGCCTCATCAGTGCCCTTGCAGTCTGACTGTGTACACTTGGTTCAGCTAATGTCTGAGAGTCCTGCACTGGGTTACTTTATA
M
TAGTGAGGACGTTAACCAGCCATATTGGCTCAATAAATAGCTTCGGTAAGGAGTTAATTTCCTTCTAGAAATCAGTGCCTATTTTTCCTGGAAACTCAAT
Celera SNP ID:            hCV27920791
SNP Position Transcript:  2252
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1130, None   



Context             (SEQ ID NO:7990):
CCTCCGCTAACCTCCGGATTCTAACATTTTCAGAGAACCTTTTGGAAAGAACAAGCCTACTTCAATAAATGAAGGAGAATAAAGAAAATTCAAGCCCTTC
R
GTAACTTCAGCAAACCTGGACCACACAAAGCCATGTTGGTACTGGGATAAGAAAGACTTGGCTCATACACCCTCACAACTTGAAGGACTTGATCCAGCCA
Celera SNP ID:            hCV15859124
SNP Position Transcript:  265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1130, 11, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:7991):
TTGGAGATGACCCAAAGGAGGAAGTAATGGTTCTGGAGAGAATCTTACTGCAGACCATCAAGTTTGATTTACAGGTAGAACATCCATACCAGTTCCTACT
W
AAATATGCAAAGCAACTCAAAGGTGATAAAAACAAAATTCAAAAGTTGGTTCAAATGGCATGGACATTTGTAAATGACAGTCTCTGCACCACCTTGTCAC
Celera SNP ID:            hCV15859150
SNP Position Transcript:  727
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1130, 165, (L,CTA)   (L,CTT)      



Gene Number:                 167
Celera Gene:                 hCG22893 - 83000099462430
Celera Transcript:           hCT13991 - 83000099462431
Public Transcript Accession: 
Celera Protein:              hCP40337 - 197000064920968
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY6P(11442759..11458626)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:434):
GGTTTTACGTGCAAGATCCAGGCTCTGCGTGATAAGCTGTGGATCTTCCTGGTTCAGTCTTTCTATGCTGTTCGTCACACAGAAAGCTGGAAGCTGATGA
GCACAGATGATCAACAGAAAATCCAAGCAGCTGCATTTGACAAAGGTGATGATCGAAGACTTGGCAAAAAGCCTATATTCAGTAGCTCGCAGCAAAGGAA
ACAAGTTTCTGACTCTGGTGATATAAAAATCAAATCTTGGAGGGGAAATAACAAGAAAGAGTGTTGGAGTTATCTCTCTACTAATAAAAAGATGAAATCT
GATGGATTAGGAGCATCTGGACATTCGTCAAGTACCAATAGAAATAGTATAAATAAAACTCTGAAGCAAGATGATGTAAAGGAAAAAGATGGTACAAAAA
TAGCATCTAAGATTACAAAAGAACTAAAAACTGGGGGAAAAAATGTTTCTGGAAAGCCCAAAACTGTAACAAAATCCAAAACAGAAAATGGTGATAAGGC
ACGGTTGGAAAACATGTCACCTAGACAAGTTGTAGAAAGATCAGCAACAGCAGCAGCAGCAGCAACTGGACAGAAGAATTTACTAAATGGAAAAGGAGTG
AGAAATCAGGAAGGGCAAATTTCAGGTGCCAGACCCAAGGTACTCACAGGAAACTTAAATGTGCAAGCCAAAGCAAAGCCTTTGAAGAAAGCTACAGGGA
AGGATTCACCATGCCTCAGCATCGCAGGACCCTCCAGCAGATCCACAGATTCAAGTATGGAATTCTCAATTTCCACTGAATGTCTGGATGAACCGAAAGA
AAATGGATCAACAGAAGAAGAAAAGCCTTCTGGACATAAACTATCCTTTTGTGATTCTCCAGGACAGATGATGAAAAACAGTGTAGATAGTGTCAAAAAT
TCCACTGTAGCCATAAAATCTCGACCTGTTTCAAGAGTTACCAATGGAACTTCCAATAAAAAAAGTATTCRTGAACAAGACACTAATGTAAATAACAGTG
TACTAAAGAAAGTCAGTGGCAAAGGATGTAGTGAGCCAGTACCACAGGCAATTTTGAAGAAAAGAGGAACTAGCAATGGATGTACTGCAGCTCAGCAGAG
GACAAAGAGTACCCCATCTAATCTTACTAAAACTCAAGGATCCCAAGGAGAGTCACCAAACTCAGTAAAATCTTCAGTCTCTTCAAGGCAGTCTGATGAA
AATGTGGCAAAGTTGGACCACAATACAACTACAGAGAAACAAGCACCTAAGAGAAAAATGGTCAAGCAAGTACACACAGCTTTGCCTAAGGTTAATGCAA
AAATAGTGGCAATGCCTAAAAATCTAAATCAGTCAAARAAAGGTGAAACTTTGAATAATAAAGATTCAAAACAGAAAATGCCTCCTGGACAGGTTATATC
AAAAACTCAGCCTTCCTCCCAAAGACCTTTAAAACATGAAACATCTACTGTCCAAAAAAGTATGTTTCRTGATGTGCGTGATAATAACAACAAGGACAGT
GTTTCTGAACAGAAGCCTCACAAACCTCTCATTAATCTTGCATCTGAAATAAGTGATGCAGAAGCACTCCAGTCATCCTGCAGGCCTGACCCACAAAAGC
CATTAAACGATCAAGAAAAAGAGAAGTTGGCRTTAGAATGCCAAAATATTTCAAAGCTGGATAAATCATTAAAACACGAACTGGAATCAAAACAGATTTG
TTTAGATAAAAGTGAAACAAAATTTCCCAATCACAAAGAAACAGATGATTGCGATGCAGCTAACATATGTTGTCATTCTGTTGGGAGTGATAATGTAAAT
TCAAAATTTTATAGCACCACAGCCCTAAAATACATGGTTTCAAATCCAWATGAAAACTCCTTGAACTCTAATCCAGTTTGTGATTTAGACTCAACAAGTG
CAGGGCAAATCCATTTGRTATCAGATAGGGAGAACCAAGTAGGGAGAAAAGATACAAACAAACAATCAAGTATTAAATGTGTGGAAGATGTTTCACTGTG
TAATCCTGAAAGGACAAATGGTACCTTAAATTCTGCTCAAGAAGACAAAAAATCGAAAGTTCCTGTGGAAGGACTGACAATTCCTAGTAAGTTGTCAGAT
GAATCTGCTATGGATGAAGACAAACATGCTACAGCAGACTCAGATGTATCTTCCAAGTGTTTTTCGGGACAGCTATCAGAAAAAAATTCTCCTAAAAATA
YGGAAACATCAGAATCTCCAGAGAGCCATGAAACTCCAGAAACTCCATTTGTGGGTCACTGGAATTTGAGTACTGGTGTTCTGCATCAGCGAGAGAGTCC
TGAATCTGACACTGGCAGTGCTACCACCTCCTCCGATGACATAAAGCCCAGATCTGAAGACTATGATGCTGGAGGGTCTCAGGATGATGATGGGTCAAAT
GACAGAGGTATCTCTAAATGTGGCACTATGCTGTGCCATGATTTTCTTGGAAGAAGTAGCAGTGATACCAGTACTCCTGAAGAATTAAAAATTTATGATA
GTAATTTAAGAATTGAAGTAAAAATGAAAAAGCAAAGTARTAATGATCTTTTCCAAGTTAATTCAACGAGTGATGATGAAATCCCTAGGAAAAGGCCAGA
AATTTGGTCTCGATCTGCAATAGTTCACTCTAGGGAAAGAGAAAATATTCCACGAGGCAGTGTCCAGTTTGCTCAGGAAATAGATCAGGTATCTTCTTCA
GCAGATGAAACAGAAGATGAAAGATCTGAAGCTGAAAACGTTGCAGAAAATTTCTCTATATCTAACCCAGCTCCTCAGCAGTTTCAGGGAATAATTAATT
TAGCTTTTGAAGATGCAACTGAAAATGAATGTCGTGAATTTTCTGCAAMTAAAAAGTTTAAAAGGTCAGTTTTACTTTCAGTCGATGAATGTGAAGAGCT
GGGATCAGATGAAGGAGAAGTCCATACTCCCTTTCAGGCTTCTGTAGATTCTKTTTCACCTTCTGATGTTTTTGATGGCATTTCTCATGAACATCATGGA
AGGACCTGCTATTCCAGATTCTCACGAGAAAGTGAAGATAATATTTTAGAATGTAAACAAAATAAAGGCAATAGTGTATGTAAAAATGAAAGCACTGTCT
TGGATCTTAGTAGCATTGACTCTTCAAGAAAAAATAAACAGAGTGTTTCAGCCACAGAAAAAAAGAACACAATAGACRTCCTATCCAGTAGAAGCAGACA
GCTTCTTCGAGAAGATAAAAAAGTAAACAATGGAAGCAATGTGGAAAATGACATTCAGCAACGCAGCAAATTCTTGGATAGTGATGTAAAATCTCAAGAA
AGACCATGTCACTTGGATCTTCATCAAAGAGAACCCAATTCTGACATACCAAAGAACAGCTCTACAAAATCTCTAGACTCCTTTCGGAGTCAAGTTCTGC
CTCAGGAAGGTCCAGTGAAAGAGAGCCATTCTACAACTACTGAAAAAGCTAATATTGCTTTATCTGCAGGAGACATAGATGATTGTGACACACTGGCACA
AACCCGCATGTATGACCATCGGCCTTCAAAAACCCTGTCTCCAATATATGAGATGGATGTAATAGAAGCATTTGAGCAGAAAGTGGAATCAGAAACACAT
GTTACAGATATGGATTTTGAAGATGACCAACATTTTGCRAAACAAGATTGGACACTACTAAAGCAACTGCTCTCTGAACAGGATTCAAACTTAGATGTTA
CAAATTCCGTTCCTGAAGACTTAAGTTTAGCACAGTATCTAATCAATCAGACACTACTTTTAGCACGAGATAGCTCAAAACCTCAGGGTATAACACATAT
TGACACTTTGAACAGATGGAGTGAACTAACATCTCCACTTGATTCCTCAGCGAGCATCACCATGGCTAGTTTTTCCTCTGAAGATTGTTCGCCTCAAGGC
GAGTGGACAATTCTGGAACTGGAAACTCAGCATTAAGTGTTAACATTTTGGAAAAATTTATGCYACTCCTTTATTTTTTGATGCCTATATTATATCCAAA
TGATAATTGCATTAGCCGGATATAAACTTTCTTTAATATTGAGTCTTTCCAATTTAATGAGGTAAACATAGTTTATTTATTAATATATCACATATAGAAA
AATGTTTTTCTAAAGTTTTTGAGCATGTTTTCTCTAATTATTAGAGAAATTAGAAGACTTATAAGGAAACCCTAGCTTCAGTTTTCCTTTCCTAGCTGAT
GATTTGTTCACTTAATCATTATTCAAGAATTTAAAATGTGAATGCAGAAGTAGATCAGTCCCTTTACTTTTTGCTCTGCATAGGGTAACATAGTAATTTA
ACAATAAAAACTTACCGTGCTTGTGTCCATTC

Protein Sequence    (SEQ ID NO:1131):
MSTDDQQKIQAAAFDKGDDRRLGKKPIFSSSQQRKQVSDSGDIKIKSWRGNNKKECWSYLSTNKKMKSDGLGASGHSSSTNRNSINKTLKQDDVKEKDGT
KIASKITKELKTGGKNVSGKPKTVTKSKTENGDKARLENMSPRQVVERSATAAAAATGQKNLLNGKGVRNQEGQISGARPKVLTGNLNVQAKAKPLKKAT
GKDSPCLSIAGPSSRSTDSSMEFSISTECLDEPKENGSTEEEKPSGHKLSFCDSPGQMMKNSVDSVKNSTVAIKSRPVSRVTNGTSNKKSIHEQDTNVNN
SVLKKVSGKGCSEPVPQAILKKRGTSNGCTAAQQRTKSTPSNLTKTQGSQGESPNSVKSSVSSRQSDENVAKLDHNTTTEKQAPKRKMVKQVHTALPKVN
AKIVAMPKNLNQSKKGETLNNKDSKQKMPPGQVISKTQPSSQRPLKHETSTVQKSMFHDVRDNNNKDSVSEQKPHKPLINLASEISDAEALQSSCRPDPQ
KPLNDQEKEKLALECQNISKLDKSLKHELESKQICLDKSETKFPNHKETDDCDAANICCHSVGSDNVNSKFYSTTALKYMVSNPNENSLNSNPVCDLDST
SAGQIHLISDRENQVGRKDTNKQSSIKCVEDVSLCNPERTNGTLNSAQEDKKSKVPVEGLTIPSKLSDESAMDEDKHATADSDVSSKCFSGQLSEKNSPK
NMETSESPESHETPETPFVGHWNLSTGVLHQRESPESDTGSATTSSDDIKPRSEDYDAGGSQDDDGSNDRGISKCGTMLCHDFLGRSSSDTSTPEELKIY
DSNLRIEVKMKKQSNNDLFQVNSTSDDEIPRKRPEIWSRSAIVHSRERENIPRGSVQFAQEIDQVSSSADETEDERSEAENVAENFSISNPAPQQFQGII
NLAFEDATENECREFSANKKFKRSVLLSVDECEELGSDEGEVHTPFQASVDSFSPSDVFDGISHEHHGRTCYSRFSRESEDNILECKQNKGNSVCKNEST
VLDLSSIDSSRKNKQSVSATEKKNTIDVLSSRSRQLLREDKKVNNGSNVENDIQQRSKFLDSDVKSQERPCHLDLHQREPNSDIPKNSSTKSLDSFRSQV
LPQEGPVKESHSTTTEKANIALSAGDIDDCDTLAQTRMYDHRPSKTLSPIYEMDVIEAFEQKVESETHVTDMDFEDDQHFAKQDWTLLKQLLSEQDSNLD
VTNSVPEDLSLAQYLINQTLLLARDSSKPQGITHIDTLNRWSELTSPLDSSASITMASFSSEDCSPQGEWTILELETQH


SNP Information

Context             (SEQ ID NO:7992):
ATGTAAAAATGAAAGCACTGTCTTGGATCTTAGTAGCATTGACTCTTCAAGAAAAAATAAACAGAGTGTTTCAGCCACAGAAAAAAAGAACACAATAGAC
R
TCCTATCCAGTAGAAGCAGACAGCTTCTTCGAGAAGATAAAAAAGTAAACAATGGAAGCAATGTGGAAAATGACATTCAGCAACGCAGCAAATTCTTGGA
Celera SNP ID:            hCV937540
SNP Position Transcript:  3178
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,1|G,37)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 1028, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 1028, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:7993):
CACAGCCCTAAAATACATGGTTTCAAATCCAAATGAAAACTCCTTGAACTCTAATCCAGTTTGTGATTTAGACTCAACAAGTGCAGGGCAAATCCATTTG
R
TATCAGATAGGGAGAACCAAGTAGGGAGAAAAGATACAAACAAACAATCAAGTATTAAATGTGTGGAAGATGTTTCACTGTGTAATCCTGAAAGGACAAA
Celera SNP ID:            hCV25999857
SNP Position Transcript:  1918
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,1)   caucasian(A,38)   total(A,49|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 608, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:7994):
AAACAGAAAATGCCTCCTGGACAGGTTATATCAAAAACTCAGCCTTCCTCCCAAAGACCTTTAAAACATGAAACATCTACTGTCCAAAAAAGTATGTTTC
R
TGATGTGCGTGATAATAACAACAAGGACAGTGTTTCTGAACAGAAGCCTCACAAACCTCTCATTAATCTTGCATCTGAAATAAGTGATGCAGAAGCACTC
Celera SNP ID:            hCV25995805
SNP Position Transcript:  1469
SNP Source:               Applera
Population(Allele,Count): african american(A,6)   caucasian(A,29|G,1)   total(A,35|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 458, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:7995):
AACAAGCACCTAAGAGAAAAATGGTCAAGCAAGTACACACAGCTTTGCCTAAGGTTAATGCAAAAATAGTGGCAATGCCTAAAAATCTAAATCAGTCAAA
R
AAAGGTGAAACTTTGAATAATAAAGATTCAAAACAGAAAATGCCTCCTGGACAGGTTATATCAAAAACTCAGCCTTCCTCCCAAAGACCTTTAAAACATG
Celera SNP ID:            hCV1917707
SNP Position Transcript:  1338
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,2)   caucasian(A,19|G,1)   total(A,25|G,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 414, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,4)   caucasian(A,28|G,8)   total(A,40|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 414, (K,AAA)   (K,AAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,5)      total(G,5|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 414, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:7996):
AAAGTTTAAAAGGTCAGTTTTACTTTCAGTCGATGAATGTGAAGAGCTGGGATCAGATGAAGGAGAAGTCCATACTCCCTTTCAGGCTTCTGTAGATTCT
K
TTTCACCTTCTGATGTTTTTGATGGCATTTCTCATGAACATCATGGAAGGACCTGCTATTCCAGATTCTCACGAGAAAGTGAAGATAATATTTTAGAATG
Celera SNP ID:            hCV25996687
SNP Position Transcript:  2953
SNP Source:               Applera
Population(Allele,Count): african american(T,4)   caucasian(G,4|T,20)   total(G,4|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 953, (V,GTT)   (F,TTT)   



Context             (SEQ ID NO:7997):
CTCCAATATATGAGATGGATGTAATAGAAGCATTTGAGCAGAAAGTGGAATCAGAAACACATGTTACAGATATGGATTTTGAAGATGACCAACATTTTGC
R
AAACAAGATTGGACACTACTAAAGCAACTGCTCTCTGAACAGGATTCAAACTTAGATGTTACAAATTCCGTTCCTGAAGACTTAAGTTTAGCACAGTATC
Celera SNP ID:            hCV25991628
SNP Position Transcript:  3639
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,30|G,2)   total(A,38|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 1181, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,10)   caucasian(A,27|G,1)   total(A,37|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 1181, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7998):
TTAATCTTGCATCTGAAATAAGTGATGCAGAAGCACTCCAGTCATCCTGCAGGCCTGACCCACAAAAGCCATTAAACGATCAAGAAAAAGAGAAGTTGGC
R
TTAGAATGCCAAAATATTTCAAAGCTGGATAAATCATTAAAACACGAACTGGAATCAAAACAGATTTGTTTAGATAAAAGTGAAACAAAATTTCCCAATC
Celera SNP ID:            hCV25991482
SNP Position Transcript:  1632
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,1|G,35)   total(A,1|G,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1131, 512, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:7999):
GAATCTGCTATGGATGAAGACAAACATGCTACAGCAGACTCAGATGTATCTTCCAAGTGTTTTTCGGGACAGCTATCAGAAAAAAATTCTCCTAAAAATA
Y
GGAAACATCAGAATCTCCAGAGAGCCATGAAACTCCAGAAACTCCATTTGTGGGTCACTGGAATTTGAGTACTGGTGTTCTGCATCAGCGAGAGAGTCCT
Celera SNP ID:            hCV25994430
SNP Position Transcript:  2201
SNP Source:               Applera
Population(Allele,Count): african american(T,10)   caucasian(C,1|T,33)   total(C,1|T,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 702, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8000):
ATGAAAAACAGTGTAGATAGTGTCAAAAATTCCACTGTAGCCATAAAATCTCGACCTGTTTCAAGAGTTACCAATGGAACTTCCAATAAAAAAAGTATTC
R
TGAACAAGACACTAATGTAAATAACAGTGTACTAAAGAAAGTCAGTGGCAAAGGATGTAGTGAGCCAGTACCACAGGCAATTTTGAAGAAAAGAGGAACT
Celera SNP ID:            hCV15829056
SNP Position Transcript:  971
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 292, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:8001):
GATTTTCTTGGAAGAAGTAGCAGTGATACCAGTACTCCTGAAGAATTAAAAATTTATGATAGTAATTTAAGAATTGAAGTAAAAATGAAAAAGCAAAGTA
R
TAATGATCTTTTCCAAGTTAATTCAACGAGTGATGATGAAATCCCTAGGAAAAGGCCAGAAATTTGGTCTCGATCTGCAATAGTTCACTCTAGGGAAAGA
Celera SNP ID:            hCV937538
SNP Position Transcript:  2540
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,15)   caucasian(A,6|G,32)   total(A,7|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 815, (N,AAT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   TSC_42_C(A,36|G,47)   TSC_42_AA(G,1|A,82)   total(G,48|A,118)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 815, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:8002):
GGCTAGTTTTTCCTCTGAAGATTGTTCGCCTCAAGGCGAGTGGACAATTCTGGAACTGGAAACTCAGCATTAAGTGTTAACATTTTGGAAAAATTTATGC
Y
ACTCCTTTATTTTTTGATGCCTATATTATATCCAAATGATAATTGCATTAGCCGGATATAAACTTTCTTTAATATTGAGTCTTTCCAATTTAATGAGGTA
Celera SNP ID:            hCV25999475
SNP Position Transcript:  3964
SNP Source:               Applera
Population(Allele,Count): african american(C,11|T,1)   caucasian(C,24)   total(C,35|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1131, None



Context             (SEQ ID NO:8003):
AATTTCTCTATATCTAACCCAGCTCCTCAGCAGTTTCAGGGAATAATTAATTTAGCTTTTGAAGATGCAACTGAAAATGAATGTCGTGAATTTTCTGCAA
M
TAAAAAGTTTAAAAGGTCAGTTTTACTTTCAGTCGATGAATGTGAAGAGCTGGGATCAGATGAAGGAGAAGTCCATACTCCCTTTCAGGCTTCTGTAGAT
Celera SNP ID:            hCV937539
SNP Position Transcript:  2849
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_AA(C,2|A,81)   total(A,81|C,2)no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 918, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:8004):
TTGCGATGCAGCTAACATATGTTGTCATTCTGTTGGGAGTGATAATGTAAATTCAAAATTTTATAGCACCACAGCCCTAAAATACATGGTTTCAAATCCA
W
ATGAAAACTCCTTGAACTCTAATCCAGTTTGTGATTTAGACTCAACAAGTGCAGGGCAAATCCATTTGATATCAGATAGGGAGAACCAAGTAGGGAGAAA
Celera SNP ID:            hCV26000004
SNP Position Transcript:  1849
SNP Source:               Applera
Population(Allele,Count): african american(A,10|T,2)   caucasian(A,40)   total(A,50|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1131, 585, (N,AAT)   (Y,TAT)   



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304042 - 145000147122281
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808726 - 197000064951367
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42860263..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:435):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGG
ATCAAACAACACCGGAAGTGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGG
GTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTG
GTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGT
GCTGGTCCTCATAAGTGCCGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAG
GCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTAC
TGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCT
GGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATC
CAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGA
AGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGAT
TCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATT
GGGAACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCA
TGCTGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAA
CGTTGGAAAAACCAATTTCCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAA
TTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGG
GCCTGAACACAGGCTCAGCCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCT
GCTCACAGCTGGGCAGTCTGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAAT
AAGGCAGAGCTTGAGCAGATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCC
TAACCACATATGTTAGTGGAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGT
GGGCCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGAT
GATGTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACC
TGGGCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGC
AGGAAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAG
TTAGAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAG
TGCACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGA
GTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTG
AATTCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCC
TGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCR
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
GACTTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGC
TGCAGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCA
GTACGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTG
GAGTTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCC
TGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGA
CGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCG
CTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGA
TCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCTC
CGCAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAAC
TTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAGT
ACAACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACA
CGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGTG
ATCACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACT
CGGAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTT
GCATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCAG
AATGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCGC
CCACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGAA
CATGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCATT
CATTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTTG
AACGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGA
ACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATC
GGGCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAAG
GTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGG
TGAAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGA
GATGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCAG
GGAGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGG
CCAGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGA
CCTCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAG
GAATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYCC
TGGATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCCA
GGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCA
TCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACC
AAGACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGT
CACCTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACA
TCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCT
TCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGA
CCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTC
CTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYG
ATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACA
ACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCA
CCTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCT
TRGGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCC
GGAGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAG
GARGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGC
TGTTGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCT
TGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAG
CCGGTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTG
CGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAA
GCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAG
CCAGCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCC
CCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCT
GCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCC
CCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGC
CGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAA
CGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTG
GCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCAT
GCTTTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTGCATGACCTATCAGTATGGTGCTAATGTGTCTGTGGACCCTCGCTCTCTGTCTCCAGGCA
GTTCTCTCGAATACTTTGAATGTTGTGTAACAGTTAGCCACTGCTGGTGTTTATGTGAACATTCCTATCAATCCAAATTCCCTCTGGAGTTTCATGTTAT
GCCTGTTGCAGGCAAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTTAAGCA
TGACTTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCT
TTTTYTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTWAAA
AAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTKTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTT
AGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGTGACGTTCTTGGCAGTCTTGTTTCCATAGCAGCGATTGTCAGAAT
CACCCCTAGGCTGGGGAAACTGGGTTTGGTTCTGGCCCCATGGAGCTGTGCAACAGCCTTTCGTTTCCAGTGGAGGAGGCAAAAGAGCTTTATCAGCCAG
TGTGCAAAGAGACCGGCTGGAGACAAGCATCCCCCGCTTTGTGGATTCAGCCCCACATGCTCCAGTGCTCCATGGCCGAGCGGAAGGTGTTCCTGCTGTT
GGGTCCCGGCAGTGTTTCTGATTTTCAGAGTCAGGCTGGCTTCTATCTTTTCCTCTGACTCTTGGTTGGCCCTCAGAGCCTCAGCCTCCTCCTGTCTTCC
TCTCCACAGTGATCCTTTCCCAGGGGGTTGATTTGCTTCCTCTCACAATGGCTGAGAGATTCAGTGTTGCCCCACGACCCCCAACCCCTTTTCTGGAGTC
TCAAAGCACAAGGTCTTTCATTTTTTTGTTTTTCTTAAAGACTGTTTTTTTCTCTCTTCAGAAATAATACAAGAAACCAACAAATACATATTCAGGTGGC
ACTTGAGTTCCACTTACAAAGGAAACAACTTATTGGATAAAATACATATGTCCTGACAAGTGCTGAGGGTAGAATTACAGGAATCTTGGGTGTCAGCAGA
AATGTTTTATGTAAAATCGGGATGAATTTGCCAGTTGGTCTATT

Protein Sequence    (SEQ ID NO:1132):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVF
TVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFN
THPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKS
DILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMD
DFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLP
KIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTL
LGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQ
RLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL
EQKLLTPITTLTSEQIQKLLASTRYPPPVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVD
TVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALT
QRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILN
RISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASE
NLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDE
GGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQER
GPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTG
PLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPK
GNRGDSIDQCALIQSIKDKCPSTFHRAPGVPRLPNRTSLCFRHL


SNP Information

Context             (SEQ ID NO:8005):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  3583
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1043, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8006):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6119
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1889, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8007):
ACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTG
C
AAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGT
Celera SNP ID:            hCV26050683
SNP Position Transcript:  8836
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,10)   total(C,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8008):
GACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCT
G
CAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCG
Celera SNP ID:            hCV26050684
SNP Position Transcript:  8835
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,10)   total(G,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8009):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6322
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1956, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1956, (L,TTA)   (L,TTG)      1956, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8010):
AGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGC
T
GCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCC
Celera SNP ID:            hCV26050685
SNP Position Transcript:  8834
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,10)   total(T,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8011):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  4544
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1364, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8012):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6808
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2118, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2118, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8013):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  4459
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1335, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1335, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8014):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  2368
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 638, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8015):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3900
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1149, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1149, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8016):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8919
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8017):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTG
Celera SNP ID:            hCV25602729
SNP Position Transcript:  7039
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2195, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8018):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  9086
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8019):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  2328
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 625, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8020):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  2240
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 596, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8021):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 587, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8022):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4989
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1512, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8023):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  9080
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8024):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3716
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1088, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8025):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9163
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8026):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8761
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8027):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7553
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8028):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8448
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8029):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7469
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8030):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8303
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8031):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  6058
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1868, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8032):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8408
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8033):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6898
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2148, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2148, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2148, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8034):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9170
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8035):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8036):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8974
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8037):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8779
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8038):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7886
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8039):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1847
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 465, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8040):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9498
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8041):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6977
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 2175, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8042):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8777
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8043):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  4313
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1287, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1287, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8044):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  4561
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1369, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8045):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9368
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8046):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3874
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1140, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1140, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8047):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8991
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8048):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  3508
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1018, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8049):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  2484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 677, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8050):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  2067
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 538, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 538, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8051):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6606
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 2051, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8052):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1682
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 410, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8053):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6934
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 2160, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8054):
TTCTTTTTCTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTT
W
AAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTGTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATG
Celera SNP ID:            hCV11936094
SNP Position Transcript:  10097
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8055):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8371
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8056):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 294, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 294, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8057):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  8102
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8058):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  2430
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 659, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8059):
CTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTT
K
TGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGT
Celera SNP ID:            hCV454519
SNP Position Transcript:  10156
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,8)      total(G,8|T,3) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8060):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7799
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8061):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6190
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1912, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8062):
TTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTT
Y
TGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTT
Celera SNP ID:            hCV8738462
SNP Position Transcript:  10005
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Context             (SEQ ID NO:8063):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5333
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1627, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8064):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7466
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None



Context             (SEQ ID NO:8065):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  5053
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1132, 1533, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8066):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  5012
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1132, 1520, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8067):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8737
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1132, None   



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304041 - 145000147122096
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808722 - 197000064951363
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42860263..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:436):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGGATCAAACAACACCGGAAG
TGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGAT
GAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATA
TCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGTGCTGGTCCTCATAAGTGC
CGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAG
CTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCG
TGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGC
ACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAG
TATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGG
CCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCT
GATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCYGAT
CAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGG
CACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTT
CCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTA
ACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGGGCCTGAACACAGGCTCAG
CCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCTGCTCACAGCTGGGCAGTC
TGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAATAAGGCAGAGCTTGAGCAG
ATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCCTAACCACATATGTTAGTG
GAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGTGGGCCAGTTCCCTGTTGT
CCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGATGATGTCAAGGTGGAGTCC
CGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACCTGGGCTACGCGCTGGACT
ATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGCAGGAAGGTCATCTGACCG
TGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAGTTAGAGCAGATCGTGCTG
TCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAAYGGAGCACCAG
CACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGT
GGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAACMAG
CAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCA
GCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCRGAACCCCTCCGTGGTCGT
GAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCGGACTTTGCCGTGGCCATT
CCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGCTGCAGCCGGTGTTGCAGC
CTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCAGTACGTTCGCACCCTCAT
AGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTGWACGCC
CATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGA
ACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCC
GGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTG
TTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCA
GCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATAT
TCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAATGATGTCTTCCCAGAATTC
TATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACACTGGCAAGGCTCTCGAAT
TTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGA
TGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAGCTGCAGACCATCACCAAT
GACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCTCCGCAGCCACTCCTGCAC
CTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAACTTCAGGAGGGACAGTTT
CCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAGTACAACTCTGACYCCACT
GACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGG
GCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGTGATCACGGGAGGAAAGTC
GGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAG
ATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATG
AAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCAGAATGTTTTTGTGGCCCA
GAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCGCCCACCGTGCGTGTGTCA
GTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGAACATGCGCAGCCAGCACC
CCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCATTCATTTTACTGATGGAGC
AGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTTGAACGAGTGGTCAACTTG
GAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTG
ACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCC
TRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAAGGTTTCCAGGGCTGCCCG
GGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAG
GATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGG
GGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCAGGGAGAGATGGAGTACCT
GGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGCYGGGCTTTGAGG
GAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGGAAGCGGAGG
TGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGSAACCGGGGC
CCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYCCTGGATACCCAGGACCAA
AGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAA
GGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCC
TCTACTTTCCACAGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACCAAGACACTTTCGGCCGG
ATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGTCACCTACAACAACGAGG
TGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCT
GGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACA
AGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACG
CTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTCCTCACGTGTCATGTTTG
CTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYGATGTGGACATCGACATG
GCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACAACTGGACATGAGCCCAG
ATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCACCTGTGAAGGTGGAATT
CTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTTRGGCAGTGCCATTGAA
TACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGGAGCAGCAGCTGGAGG
AGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGARGTATACACCTTCGC
CAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCRTCCTTCGTC
AGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACA
AACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAGCCGGTGACCACCACAAC
AAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCC
AAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGAC
CCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCC
CRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCCCCGGTCCTTATTTTTAT
GACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCTGCTCGCTGGGCAGACAT
ACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGC
AAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACT
TGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGAT
CACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTGGCCAACATCATATACCT
CTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCATGCTTTGATTTACACTCG
AACTCGGGAGGGAACATCCTGCTGCATGACCTATCAGTATGGTGCTAATGTGTCTGTGGACCCTCGCTCTCTGTCTCCAGGCAGTTCTCTCGAATACTTT
GAATGTTGTGTAACAGTTAGCCACTGCTGGTGTTTATGTGAACATTCCTATCAATCCAAATTCCCTCTGGAGTTTCATGTTATGCCTGTTGCAGGCAAAT
GTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTTAAGCATGACTTTAGATGGGAAG
CCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTTYTGAAGCCTCTAA
CAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTWAAAAAGTTGTAATAGAGAAT
ATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTKTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAG
AAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGTGACGTTCTTGGCAGTCTTGTTTCCATAGCAGCGATTGTCAGAATCACCCCTAGGCTGGGGA
AACTGGGTTTGGTTCTGGCCCCATGGAGCTGTGCAACAGCCTTTCGTTTCCAGTGGAGGAGGCAAAAGAGCTTTATCAGCCAGTGTGCAAAGAGACCGGC
TGGAGACAAGCATCCCCCGCTTTGTGGATTCAGCCCCACATGCTCCAGTGCTCCATGGCCGAGCGGAAGGTGTTCCTGCTGTTGGGTCCCGGCAGTGTTT
CTGATTTTCAGAGTCAGGCTGGCTTCTATCTTTTCCTCTGACTCTTGGTTGGCCCTCAGAGCCTCAGCCTCCTCCTGTCTTCCTCTCCACAGTGATCCTT
TCCCAGGGGGTTGATTTGCTTCCTCTCACAATGGCTGAGAGATTCAGTGTTGCCCCACGACCCCCAACCCCTTTTCTGGAGTCTCAAAGCACAAGGTCTT
TCATTTTTTTGTTTTTCTTAAAGACTGTTTTTTTCTCTCTTCAGAAATAATACAAGAAACCAACAAATACATATTCAGGTGGCACTTGAGTTCCACTTAC
AAAGGAAACAACTTATTGGATAAAATACATATGTCCTGACAAGTGCTGAGGGTAGAATTACAGGAATCTTGGGTGTCAGCAGAAATGTTTTATGTAAAAT
CGGGATGAATTTGCCAGTTGGTCTATT

Protein Sequence    (SEQ ID NO:1133):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVL
GAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFR
SFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKR
EVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPA
EFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHL
RQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLP
ALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRM
KIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLH
PQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTP
NTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVT
QLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKG
GRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLT
PITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRL
RLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIE
ERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAI
NKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELS
ELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEY
QPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPL
RLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEV
GEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPP
GAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGR
RGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPSTFHRAPGVPRLPNRTSL
CFRHL


SNP Information

Context             (SEQ ID NO:8068):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4369
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1305, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1305, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1305, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8069):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6002
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1850, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8070):
ACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTG
C
AAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGT
Celera SNP ID:            hCV26050683
SNP Position Transcript:  8719
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,10)   total(C,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8071):
GACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCT
G
CAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCG
Celera SNP ID:            hCV26050684
SNP Position Transcript:  8718
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,10)   total(G,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8072):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6205
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1917, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1917, (L,TTA)   (L,TTG)      1917, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8073):
AGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGC
T
GCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCC
Celera SNP ID:            hCV26050685
SNP Position Transcript:  8717
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,10)   total(T,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8074):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  1750
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 432, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8075):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8802
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8076):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTG
Celera SNP ID:            hCV25602729
SNP Position Transcript:  6922
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2156, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8077):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  1710
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 419, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8078):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  1622
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 390, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8079):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  1597
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 381, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8080):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3098
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 882, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 882, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 882, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8081):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9046
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8082):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGGATCAAA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8083):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8662
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8084):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4147
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1231, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1231, (I,ATC)   (I,ATT)      1231, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8085):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9381
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8086):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8660
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8087):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  4563
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1370, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8088):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  3695
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1081, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1081, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8089):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  3943
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1163, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8090):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8874
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8091):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  1449
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 332, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 332, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8092):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1064
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 204, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8093):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6817
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2121, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8094):
TTCTTTTTCTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTT
W
AAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTGTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATG
Celera SNP ID:            hCV11936094
SNP Position Transcript:  9980
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8095):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  718
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 88, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 88, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8096):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6073
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1873, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8097):
TTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTT
Y
TGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTT
Celera SNP ID:            hCV8738462
SNP Position Transcript:  9888
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8098):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  2965
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 837, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 837, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 837, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8099):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6691
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2079, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2079, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8100):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  3926
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1158, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8101):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  3841
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1129, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1129, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8102):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3282
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 943, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 943, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8103):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  8969
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8104):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  8963
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8105):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4872
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1473, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8106):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8644
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8107):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8331
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8108):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7436
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8109):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8186
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8110):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7352
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8111):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8291
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8112):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  5941
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1829, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8113):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6781
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2109, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2109, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 2109, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8114):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9053
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8115):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8857
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8116):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7769
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8117):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1229
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 259, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8118):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6860
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 2136, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8119):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9251
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8120):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3256
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 934, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 934, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8121):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  2890
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 812, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8122):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  1866
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 471, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8123):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6489
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 2012, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8124):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8254
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8125):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  7985
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8126):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  1812
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 453, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8127):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7682
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8128):
CTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTT
K
TGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGT
Celera SNP ID:            hCV454519
SNP Position Transcript:  10039
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,8)      total(G,8|T,3) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Context             (SEQ ID NO:8129):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7349
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None



Context             (SEQ ID NO:8130):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5216
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1588, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8131):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  4936
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1133, 1494, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8132):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  4895
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1133, 1481, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8133):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8620
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1133, None   



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304051 - 145000147122235
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808725 - 197000064951366
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42860263..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:437):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGT
GGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAG
GTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGC
CCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCC
TAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGG
AACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGC
TGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAACGT
TGGAAAAACCAATTTCCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAATTT
AGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGGGCC
TGAACACAGGCTCAGCCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCTGCT
CACAGCTGGGCAGTCTGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAATAAG
GCAGAGCTTGAGCAGATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCCTAA
CCACATATGTTAGTGGAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGTGGG
CCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGATGAT
GTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACCTGG
GCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGCAGG
AAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAGTTA
GAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGC
ACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGAGTT
TGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAAT
TCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGA
GGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCRGAA
CCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCGGAC
TTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGCTGC
AGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCAGTA
CGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAG
TTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGG
AGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGA
TGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTG
AGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCC
AGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGA
TGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAATGAT
GTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACACTG
GCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGGTGG
AAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAGCTG
CAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCTCCG
CAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAACTT
CAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAGTAC
AACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACG
CCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGTGAT
CACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCG
GAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGC
ATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCAGAA
TGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCGCCC
ACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGAACA
TGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCATTCA
TTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTTGAA
CGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAAC
TAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGG
GCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAAGGT
TTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTG
AAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGA
TGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCAGGG
AGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCC
AGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACC
TCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGA
ATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYCCTG
GATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCCAGG
GATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATC
AAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACCAA
GACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGTCA
CCTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATC
CAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTC
AGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACC
GGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTCCT
CACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYGAT
GTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACAAC
TGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCACC
TGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTTR
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
RGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGCTG
TTGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTG
TGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAGCC
GGTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCG
AAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAAGC
CAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCC
AGCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCCCC
GGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCTGC
TCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCCCC
ACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGCCG
AAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACG
AAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTGGC
CAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCATGC
TTTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTGCATGACCTATCAGTATGGTGCTAATGTGTCTGTGGACCCTCGCTCTCTGTCTCCAGGCAGT
TCTCTCGAATACTTTGAATGTTGTGTAACAGTTAGCCACTGCTGGTGTTTATGTGAACATTCCTATCAATCCAAATTCCCTCTGGAGTTTCATGTTATGC
CTGTTGCAGGCAAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTTAAGCATG
ACTTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTT
TTYTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTWAAAAA
GTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTKTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAG
GAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGTGACGTTCTTGGCAGTCTTGTTTCCATAGCAGCGATTGTCAGAATCA
CCCCTAGGCTGGGGAAACTGGGTTTGGTTCTGGCCCCATGGAGCTGTGCAACAGCCTTTCGTTTCCAGTGGAGGAGGCAAAAGAGCTTTATCAGCCAGTG
TGCAAAGAGACCGGCTGGAGACAAGCATCCCCCGCTTTGTGGATTCAGCCCCACATGCTCCAGTGCTCCATGGCCGAGCGGAAGGTGTTCCTGCTGTTGG
GTCCCGGCAGTGTTTCTGATTTTCAGAGTCAGGCTGGCTTCTATCTTTTCCTCTGACTCTTGGTTGGCCCTCAGAGCCTCAGCCTCCTCCTGTCTTCCTC
TCCACAGTGATCCTTTCCCAGGGGGTTGATTTGCTTCCTCTCACAATGGCTGAGAGATTCAGTGTTGCCCCACGACCCCCAACCCCTTTTCTGGAGTCTC
AAAGCACAAGGTCTTTCATTTTTTTGTTTTTCTTAAAGACTGTTTTTTTCTCTCTTCAGAAATAATACAAGAAACCAACAAATACATATTCAGGTGGCAC
TTGAGTTCCACTTACAAAGGAAACAACTTATTGGATAAAATACATATGTCCTGACAAGTGCTGAGGGTAGAATTACAGGAATCTTGGGTGTCAGCAGAAA
TGTTTTATGTAAAATCGGGATGAATTTGCCAGTTGGTCTATT

Protein Sequence    (SEQ ID NO:1134):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNT
HPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSL
VFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSD
ILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDD
FSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILN
LVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPK
IGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLL
GGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVI
SERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQR
LRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLE
QKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLD
AIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRE
LPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQ
IIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGN
VQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAF
DFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFM
YDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPG
EKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFG
RRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGV
GSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPSTFHRAPGVPRLP
NRTSLCFRHL


SNP Information

Context             (SEQ ID NO:8134):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4384
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1310, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1310, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1310, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8135):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6017
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1855, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8136):
ACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTG
C
AAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGT
Celera SNP ID:            hCV26050683
SNP Position Transcript:  8734
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,10)   total(C,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8137):
GACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCT
G
CAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCG
Celera SNP ID:            hCV26050684
SNP Position Transcript:  8733
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,10)   total(G,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8138):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6220
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1922, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1922, (L,TTA)   (L,TTG)      1922, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8139):
AGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGC
T
GCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCC
Celera SNP ID:            hCV26050685
SNP Position Transcript:  8732
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,10)   total(T,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8140):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  1765
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 437, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8141):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8817
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8142):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTG
Celera SNP ID:            hCV25602729
SNP Position Transcript:  6937
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2161, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8143):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  1725
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 424, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8144):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  1637
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 395, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8145):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  1612
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 386, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8146):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3113
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 887, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 887, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 887, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8147):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9061
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8148):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8149):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8677
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8150):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4162
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1236, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1236, (I,ATC)   (I,ATT)      1236, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8151):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9396
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8152):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8675
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8153):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  4578
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1375, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8154):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  3710
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1086, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1086, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8155):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  3958
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1168, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8156):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8889
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8157):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  1464
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 337, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 337, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8158):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6832
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2126, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8159):
TTCTTTTTCTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTT
W
AAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTGTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATG
Celera SNP ID:            hCV11936094
SNP Position Transcript:  9995
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8160):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6088
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1878, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8161):
TTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTT
Y
TGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTT
Celera SNP ID:            hCV8738462
SNP Position Transcript:  9903
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8162):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  2980
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 842, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 842, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 842, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8163):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6706
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2084, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2084, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8164):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  3941
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1163, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8165):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  3856
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1134, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1134, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8166):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3297
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 948, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 948, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8167):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  8984
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8168):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  8978
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8169):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4887
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1478, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8170):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8659
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8171):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8346
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8172):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7451
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8173):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8201
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8174):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7367
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8175):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8306
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8176):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  5956
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1834, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8177):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6796
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2114, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2114, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 2114, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8178):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9068
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8179):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8872
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8180):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7784
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8181):
AACCCTTAAAGACATCACAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1244
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 264, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8182):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6875
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 2141, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8183):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9266
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8184):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3271
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 939, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 939, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8185):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  2905
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 817, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8186):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  1881
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 476, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8187):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6504
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 2017, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8188):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8269
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8189):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  8000
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8190):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  1827
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 458, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8191):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7697
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8192):
CTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTT
K
TGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGT
Celera SNP ID:            hCV454519
SNP Position Transcript:  10054
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,8)      total(G,8|T,3) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Context             (SEQ ID NO:8193):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7364
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None



Context             (SEQ ID NO:8194):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5231
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1593, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8195):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  4951
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1134, 1499, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8196):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  4910
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1134, 1486, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8197):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8635
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1134, None   



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT14129 - 145000147122188
Public Transcript Accession: NM_004369
Celera Protein:              hCP40451 - 197000064951365
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42860263..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:438):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGG
ATCAAACAACACCGGAAGTGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGG
GTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTG
GTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGT
GCTGGTCCTCATAAGTGCCGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAG
GCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTAC
TGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCT
GGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATC
CAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGA
AGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGAT
TCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATT
GGGAACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCA
TGCTGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAA
CGTTGGAAAAACCAATTTCCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAA
TTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGG
GCCTGAACACAGGCTCAGCCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCT
GCTCACAGCTGGGCAGTCTGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAAT
AAGGCAGAGCTTGAGCAGATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCC
TAACCACATATGTTAGTGGAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGT
GGGCCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGAT
GATGTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACC
TGGGCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGC
AGGAAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAG
TTAGAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAG
TGCACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGA
GTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTG
AATTCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCC
TGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCR
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
GACTTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGC
TGCAGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCA
GTACGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTG
GAGTTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCC
TGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGA
CGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCG
CTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGA
TCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCC
AGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAAT
GATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACA
CTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGG
TGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAG
CTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCT
CCGCAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAA
CTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAG
TACAACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGAC
ACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGT
GATCACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGAC
TCGGAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTT
TGCATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCA
GAATGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCG
CCCACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGA
ACATGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCAT
TCATTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTT
GAACGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATG
AACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCAT
CGGGCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAA
GGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATG
GTGAAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGG
AGATGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCA
GGGAGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTG
GCCAGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGG
ACCTCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGA
GGAATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYC
CTGGATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCC
AGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGC
ATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAAC
CAAGACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGG
TCACCTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGAC
ATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTC
TTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAG
ACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGT
CCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGY
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGAC
AACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCC
ACCTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCC
TTRGGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGC
CGGAGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAA
GGARGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGG
CTGTTGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACC
TTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAA
GCCGGTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCT
GCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAA
AGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAA
GCCAGCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCC
CCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCC
TGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCC
CCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTG
CCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAA
ACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGST
GGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCA
TGCTTTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTGCATGACCTATCAGTATGGTGCTAATGTGTCTGTGGACCCTCGCTCTCTGTCTCCAGGC
AGTTCTCTCGAATACTTTGAATGTTGTGTAACAGTTAGCCACTGCTGGTGTTTATGTGAACATTCCTATCAATCCAAATTCCCTCTGGAGTTTCATGTTA
TGCCTGTTGCAGGCAAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTTAAGC
ATGACTTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTC
TTTTTYTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTWAA
AAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTKTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTT
TAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGTGACGTTCTTGGCAGTCTTGTTTCCATAGCAGCGATTGTCAGAA
TCACCCCTAGGCTGGGGAAACTGGGTTTGGTTCTGGCCCCATGGAGCTGTGCAACAGCCTTTCGTTTCCAGTGGAGGAGGCAAAAGAGCTTTATCAGCCA
GTGTGCAAAGAGACCGGCTGGAGACAAGCATCCCCCGCTTTGTGGATTCAGCCCCACATGCTCCAGTGCTCCATGGCCGAGCGGAAGGTGTTCCTGCTGT
TGGGTCCCGGCAGTGTTTCTGATTTTCAGAGTCAGGCTGGCTTCTATCTTTTCCTCTGACTCTTGGTTGGCCCTCAGAGCCTCAGCCTCCTCCTGTCTTC
CTCTCCACAGTGATCCTTTCCCAGGGGGTTGATTTGCTTCCTCTCACAATGGCTGAGAGATTCAGTGTTGCCCCACGACCCCCAACCCCTTTTCTGGAGT
CTCAAAGCACAAGGTCTTTCATTTTTTTGTTTTTCTTAAAGACTGTTTTTTTCTCTCTTCAGAAATAATACAAGAAACCAACAAATACATATTCAGGTGG
CACTTGAGTTCCACTTACAAAGGAAACAACTTATTGGATAAAATACATATGTCCTGACAAGTGCTGAGGGTAGAATTACAGGAATCTTGGGTGTCAGCAG
AAATGTTTTATGTAAAATCGGGATGAATTTGCCAGTTGGTCTATT

Protein Sequence    (SEQ ID NO:1135):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVF
TVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFN
THPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKS
DILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMD
DFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLP
KIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTL
LGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQ
RLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFR
ELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKR
QIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGF
MYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGF
GRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDG
VGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPSTFHRAPGVPRL
PNRTSLCFRHL


SNP Information

Context             (SEQ ID NO:8198):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4987
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1511, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1511, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1511, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8199):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6620
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 2056, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8200):
ACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTG
C
AAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGT
Celera SNP ID:            hCV26050683
SNP Position Transcript:  9337
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,10)   total(C,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8201):
GACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCT
G
CAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCG
Celera SNP ID:            hCV26050684
SNP Position Transcript:  9336
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,10)   total(G,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8202):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6823
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 2123, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 2123, (L,TTA)   (L,TTG)      2123, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8203):
AGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGC
T
GCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCC
Celera SNP ID:            hCV26050685
SNP Position Transcript:  9335
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,10)   total(T,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8204):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  2368
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 638, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8205):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  9420
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8206):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTG
Celera SNP ID:            hCV25602729
SNP Position Transcript:  7540
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2362, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8207):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  2328
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 625, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8208):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  2240
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 596, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8209):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 587, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8210):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3716
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1088, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8211):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9664
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8212):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8213):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  9280
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8214):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4765
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1437, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1437, (I,ATC)   (I,ATT)      1437, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8215):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9999
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8216):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  9278
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8217):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  5181
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1576, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8218):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  4313
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1287, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1287, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8219):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  4561
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1369, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8220):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  9492
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8221):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  2067
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 538, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 538, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8222):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1682
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 410, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8223):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  7435
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2327, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8224):
TTCTTTTTCTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTT
W
AAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTGTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATG
Celera SNP ID:            hCV11936094
SNP Position Transcript:  10598
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8225):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 294, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 294, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8226):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6691
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2079, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8227):
TTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTT
Y
TGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTT
Celera SNP ID:            hCV8738462
SNP Position Transcript:  10506
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8228):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  3583
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1043, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8229):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  7309
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2285, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2285, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8230):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  4544
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1364, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8231):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  4459
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1335, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1335, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8232):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3900
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1149, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1149, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8233):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  9587
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8234):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  9581
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8235):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  5490
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1679, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8236):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  9262
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8237):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8949
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8238):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  8054
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8239):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8804
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8240):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7970
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8241):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8909
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8242):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  6559
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2035, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8243):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  7399
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2315, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2315, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 2315, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8244):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9671
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8245):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  9475
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8246):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  8387
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8247):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1847
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 465, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8248):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  7478
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 2342, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8249):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9869
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8250):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3874
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1140, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1140, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8251):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  3508
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1018, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8252):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  2484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 677, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8253):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  7107
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 2218, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8254):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8872
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8255):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  8603
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8256):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  2430
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 659, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8257):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  8300
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8258):
CTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTT
K
TGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGT
Celera SNP ID:            hCV454519
SNP Position Transcript:  10657
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,8)      total(G,8|T,3) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Context             (SEQ ID NO:8259):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7967
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None



Context             (SEQ ID NO:8260):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5834
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1794, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8261):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  5554
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1135, 1700, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8262):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  5513
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1135, 1687, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8263):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  9238
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1135, None   



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304044 - 145000147122424
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808729 - 197000064951370
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42861280..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:439):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGG
ATCAAACAACACCGGAAGTGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGG
GTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTG
GTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGT
GCTGGTCCTCATAAGTGCCGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAG
GCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTAC
TGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCT
GGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATC
CAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGA
AGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGAT
TCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATT
GGGAACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCA
TGCTGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAA
CGTTGGAAAAACCAATTTCCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAA
TTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGG
GCCTGAACACAGGCTCAGCCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCT
GCTCACAGCTGGGCAGTCTGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAAT
AAGGCAGAGCTTGAGCAGATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCC
TAACCACATATGTTAGTGGAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGT
GGGCCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGAT
GATGTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACC
TGGGCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGC
AGGAAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAG
TTAGAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAG
TGCACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGA
GTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTG
AATTCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCC
TGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCR
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
GACTTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGC
TGCAGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCA
GTACGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTG
GAGTTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCC
TGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGA
CGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCG
CTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGA
TCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCC
AGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAAT
GATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACA
CTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGG
TGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAG
CTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCT
CCGCAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAA
CTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAG
TACAACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGAC
ACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGT
GATCACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGAC
TCGGAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTT
TGCATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCA
GAATGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCG
CCCACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGA
ACATGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCAT
TCATTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTT
GAACGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATG
AACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCAT
CGGGCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAA
GGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATG
GTGAAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGG
AGATGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCA
GGGAGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTG
GCCAGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGG
ACCTCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGA
GGAATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYC
CTGGATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCC
AGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGC
ATCAAAGATAAATGCCCTTGCTGTTACGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACCAAG
ACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGTCAC
CTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCC
AAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCA
GCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCG
GCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTCCTC
ACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYGATG
TGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACAACT
GGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCACCT
GTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTTRG
GCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGGA
GCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGAR
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
TGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGT
GAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAGCCG
GTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGA
AACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAAGCC
AGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCA
GCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCCCCG
GTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCTGCT
CGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCA
CCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGCCGA
AAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGA
AAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTGGCC
AACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCATGCT
TTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCAT
TTTTTTTCCCTTTTAGTTAAGCATGACTTTAGATGGGAAGCCTGTGTATC

Protein Sequence    (SEQ ID NO:1136):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVF
TVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFN
THPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKS
DILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMD
DFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLP
KIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTL
LGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQ
RLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFR
ELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKR
QIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGF
MYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGF
GRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDG
VGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFK
RVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFG
SWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDK
STELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTII
NQPSVKPAAAKPAPAKPVAAKPVATKTATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
TENSAKLHWERPEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVS
TEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT


SNP Information

Context             (SEQ ID NO:8264):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4987
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1511, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1511, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1511, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8265):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  3583
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1043, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1043, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8266):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6620
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2056, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8267):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6823
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2123, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2123, (L,TTA)   (L,TTG)      2123, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8268):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  4544
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1364, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8269):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  7309
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2285, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2285, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8270):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  4459
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1335, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1335, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8271):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  2368
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 638, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8272):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3900
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1149, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1149, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8273):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  9416
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2988, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:8274):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCTTGCTGTTACGGGCCCCTGGAGT
Celera SNP ID:            hCV25602729
SNP Position Transcript:  7540
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2362, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8275):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  2328
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 625, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8276):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  9583
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 3043, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:8277):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  2240
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 596, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8278):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  5490
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1679, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8279):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  9577
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 3041, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8280):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 587, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8281):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3716
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1088, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1088, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8282):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9660
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 3069, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 3069, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:8283):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  9258
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2935, (A,GCG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2935, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:8284):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  8050
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2532, (K,AAA)   (K,AAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2532, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:8285):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8945
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2831, (H,CAT)   (D,GAT)   



Context             (SEQ ID NO:8286):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7966
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2504, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2504, (N,AAC)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2504, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:8287):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8800
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2782, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2782, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8288):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  6559
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2035, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8289):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8905
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2817, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:8290):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  7399
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2315, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2315, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2315, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8291):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9667
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 3071, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 3071, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8292):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  9471
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 3006, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:8293):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8294):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  9276
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2941, (A,GCA)   (V,GTA)      2941, (V,GTA)   (A,GCA)      



Context             (SEQ ID NO:8295):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  8383
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2643, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2643, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2643, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8296):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4765
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1437, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1437, (I,ATC)   (I,ATT)      1437, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8297):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1847
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 465, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8298):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9995
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1136, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1136, None   



Context             (SEQ ID NO:8299):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  9274
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2940, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2940, (T,ACA)   (T,ACG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2940, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:8300):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  7478
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2342, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8301):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  5181
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1576, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8302):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  4313
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1287, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1287, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8303):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  4561
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1369, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8304):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9865
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 3137, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:8305):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3874
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1140, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1140, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8306):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  9488
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 3012, (P,CCT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 3012, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:8307):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  3508
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1018, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8308):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  2484
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 677, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8309):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  2067
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 538, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 538, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8310):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  7107
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2218, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8311):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1682
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 410, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8312):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  7435
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2327, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8313):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8868
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2805, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:8314):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  8599
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2715, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:8315):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 294, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 294, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8316):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  2430
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 659, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8317):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  8296
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2614, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:8318):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6691
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2079, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8319):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7963
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2503, (R,AGA)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 2503, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8320):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5834
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1794, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8321):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  5554
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1136, 1700, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8322):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  5513
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 1687, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8323):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  9234
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2927, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2927, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1136, 2927, (T,ACG)   (M,ATG)      



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304045 - 145000147122376
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808728 - 197000064951369
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42861280..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:440):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGGATCAAACAACACCGGAAG
TGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGAT
GAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATA
TCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGTGCTGGTCCTCATAAGTGC
CGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAG
CTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCG
TGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGC
ACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAG
TATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGG
CCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCT
GATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCYGAT
CAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGG
CACCTCTCASGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGRGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTT
CCCTTATGTGCRCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCRTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTA
ACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAGCTCCAGGGAGGTTCGGGCCTGAACACAGGCTCAG
CCCTAAGCTATGTCTATGCCAACCACTTCACGGAAGCTGGCGGCAGCAGGATCCGTGAACACGTGCCGCAGCTCCTGCTTCTGCTCACAGCTGGGCAGTC
TGAGGACTCCTATTTGCAAGCTGCCAACGCCTTGACACGCGCGGGCATCCTGACTTTTTGTGTGGGAGCTAGCCAGGCGAATAAGGCAGAGCTTGAGCAG
ATTGCTTTTAACCCAAGCCTGGTGTATCTCATGGATGATTTCAGCTCCCTGCCAGCTTTGCCTCAGCAGCTGATTCAGCCCCTAACCACATATGTTAGTG
GAGGTGTGGAGGAAGTACCACTCGCTCAGCCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGTGGGCCAGTTCCCTGTTGT
CCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGATGATGTCAAGGTGGAGTCC
CGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACCTGGGCTACGCGCTGGACT
ATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGCAGGAAGGTCATCTGACCG
TGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAGTTAGAGCAGATCGTGCTG
TCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAAYGGAGCACCAG
CACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGT
GGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAACMAG
CAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCA
GCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCRGAACCCCTCCGTGGTCGT
GAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCGGACTTTGCCGTGGCCATT
CCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGCTGCAGCCGGTGTTGCAGC
CTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCAGTACGTTCGCACCCTCAT
AGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTGWACGCC
CATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGA
ACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCC
GGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTG
TTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCA
GCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATAT
TCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAATGATGTCTTCCCAGAATTC
TATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACACTGGCAAGGCTCTCGAAT
TTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGA
TGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAGCTGCAGACCATCACCAAT
GACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCTCCGCAGCCACTCCTGCAC
CTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAACTTCAGGAGGGACAGTTT
CCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAGTACAACTCTGACYCCACT
GACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGG
GCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGTGATCACGGGAGGAAAGTC
GGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAG
ATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATG
AAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCAGAATGTTTTTGTGGCCCA
GAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCGCCCACCGTGCGTGTGTCA
GTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGAACATGCGCAGCCAGCACC
CCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCATTCATTTTACTGATGGAGC
AGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTTGAACGAGTGGTCAACTTG
GAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTG
ACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCC
TRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAAGGTTTCCAGGGCTGCCCG
GGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAG
GATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGG
GGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCAGGGAGAGATGGAGTACCT
GGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGCYGGGCTTTGAGG
GAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGGAAGCGGAGG
TGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGSAACCGGGGC
CCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYCCTGGATACCCAGGACCAA
AGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAA
GGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCT
TGCTGTTACGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACCAAGACACTTTCGGCCGGATGC
GAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGTCACCTACAACAACGAGGTGAC
CACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAG
ACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAG
CATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTT
GCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTCCTCACGTGTCATGTTTGCTTG
GACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYGATGTGGACATCGACATGGCTT
TCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACAACTGGACATGAGCCCAGATCC
CAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCACCTGTGAAGGTGGAATTCTCC
CTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTTRGGCAGTGCCATTGAATACA
CCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGGAGCAGCAGCTGGAGGAGGC
CCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGARGTATACACCTTCGCCAGT
GAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCRTCCTTCGTCAGCA
GTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACA
AGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAGCCGGTGACCACCACAACAAAG
CCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGC
CTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCC
CGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCRTG
GTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCCCCGGTCCTTATTTTTATGACC
TCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCA
TGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGG
TCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCA
GGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACA
GAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTGGCCAACATCATATACCTCTTG
AAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCATGCTTTGATTTACACTCGAACT
CGGGAGGGAACATCCTGCTAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTT
AAGCATGACTTTAGATGGGAAGCCTGTGTATC

Protein Sequence    (SEQ ID NO:1137):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVL
GAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFR
SFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKR
EVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPA
EFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHL
RQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLP
ALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRM
KIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLH
PQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTP
NTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVT
QLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKG
GRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLT
PITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRL
RLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIE
ERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAI
NKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELS
ELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEY
QPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPL
RLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEV
GEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPP
GAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGR
RGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFA
LDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGF
LMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSF
RDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGM
TQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNE
EPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVK
PAAAKPAPAKPVAAKPVATKTATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAK
LHWERPEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLAL
TETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT


SNP Information

Context             (SEQ ID NO:8324):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4369
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1305, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1305, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1305, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8325):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  2965
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 837, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 837, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 837, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8326):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6002
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1850, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8327):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6205
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1917, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1917, (L,TTA)   (L,TTG)      1917, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8328):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  3926
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1158, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8329):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6691
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2079, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2079, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8330):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  3841
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1129, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1129, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8331):
CAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAG
R
GATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTG
Celera SNP ID:            hCV25602830
SNP Position Transcript:  1750
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,38)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 432, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8332):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3282
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 943, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 943, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8333):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8798
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2782, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:8334):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCTTGCTGTTACGGGCCCCTGGAGT
Celera SNP ID:            hCV25602729
SNP Position Transcript:  6922
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2156, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8335):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTG
Celera SNP ID:            hCV25602835
SNP Position Transcript:  1710
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 419, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8336):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  8965
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2837, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:8337):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  1622
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 390, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8338):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4872
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1473, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8339):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  8959
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2835, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8340):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  1597
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 381, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8341):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3098
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 882, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 882, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 882, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8342):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9042
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2863, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2863, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:8343):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8640
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2729, (A,GCG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2729, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:8344):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7432
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2326, (K,AAA)   (K,AAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2326, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:8345):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8327
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2625, (H,CAT)   (D,GAT)   



Context             (SEQ ID NO:8346):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7348
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2298, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2298, (N,AAC)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2298, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:8347):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8182
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2576, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2576, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8348):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  5941
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1829, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8349):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8287
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2611, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:8350):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6781
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2109, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2109, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2109, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8351):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9049
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2865, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2865, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8352):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8853
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2800, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:8353):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGGATCAAA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8354):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8658
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2735, (A,GCA)   (V,GTA)      2735, (V,GTA)   (A,GCA)      



Context             (SEQ ID NO:8355):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7765
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2437, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2437, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2437, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8356):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4147
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1231, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1231, (I,ATC)   (I,ATT)      1231, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8357):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1229
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 259, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8358):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9377
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1137, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1137, None   



Context             (SEQ ID NO:8359):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8656
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2734, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2734, (T,ACA)   (T,ACG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2734, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:8360):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6860
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2136, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8361):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  4563
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1370, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8362):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  3695
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1081, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1081, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8363):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  3943
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1163, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8364):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9247
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2931, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:8365):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3256
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 934, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 934, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8366):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8870
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2806, (P,CCT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2806, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:8367):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  2890
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 812, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8368):
TTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGCGCGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTC
R
TGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCTTTAAACACATACCAGACCAAGTCAGATATCCTTGGTCATCTGAGGCAGCTGCAG
Celera SNP ID:            hCV25602824
SNP Position Transcript:  1866
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 471, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8369):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  1449
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 332, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 332, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8370):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6489
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2012, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8371):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1064
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 204, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8372):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6817
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2121, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8373):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8250
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2599, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:8374):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  7981
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2509, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:8375):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  718
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 88, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 88, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8376):
ACCCTCTCTGGAACCCCTGAAGTTCACTCAAACAAAAGGGATATCATCTTTCTTTTGGATGGATCAGCCAACGTTGGAAAAACCAATTTCCCTTATGTGC
R
CGACTTTGTAATGAACCTAGTTAACAGCCTTGATATTGGAAATGACAATATTCGTGTTGGTTTAGTGCAATTTAGTGACACTCCTGTAACGGAGTTCTCT
Celera SNP ID:            hCV25602829
SNP Position Transcript:  1812
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(G,38)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 453, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8377):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7678
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2408, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:8378):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6073
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1873, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8379):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7345
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2297, (R,AGA)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 2297, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8380):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5216
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1588, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8381):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  4936
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1137, 1494, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8382):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  4895
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 1481, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8383):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8616
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2721, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2721, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1137, 2721, (T,ACG)   (M,ATG)      



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304048 - 145000147122328
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808727 - 197000064951368
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42861280..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:441):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGG
ATCAAACAACACCGGAAGTGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGG
GTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTG
GTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGT
GCTGGTCCTCATAAGTGCCGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAG
GCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTAC
TGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCT
GGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATC
CAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGA
AGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGAT
TCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATT
GGGAACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCA
TGCTGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGT
GGGCCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGAT
GATGTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACC
TGGGCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGC
AGGAAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAG
TTAGAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAG
TGCACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGA
GTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTG
AATTCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCC
TGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCR
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
GACTTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGC
TGCAGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCA
GTACGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTG
GAGTTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCC
TGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGA
CGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCG
CTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGA
TCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCC
AGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAAT
GATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACA
CTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGG
TGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAG
CTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCT
CCGCAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAA
CTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAG
TACAACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGAC
ACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGT
GATCACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGAC
TCGGAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTT
TGCATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCA
GAATGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCG
CCCACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGA
ACATGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCAT
TCATTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTT
GAACGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATG
AACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCAT
CGGGCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAA
GGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATG
GTGAAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGG
AGATGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCA
GGGAGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTG
GCCAGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGG
ACCTCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGA
GGAATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYC
CTGGATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCC
AGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGC
ATCAAAGATAAATGCCCTTGCTGTTACGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAACCAAG
ACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGGTCAC
CTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCC
AAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCA
GCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCG
GCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGTCCTC
ACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGYGATG
TGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGACAACT
GGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCCACCT
GTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTTRG
GCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGGA
GCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGAR
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
TGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGT
GAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAAGCCG
GTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGA
AACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAAAGCC
AGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCA
GCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCCCCCG
GTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCCTGCT
CGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCA
CCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTGCCGA
AAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGA
AAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGSTGGCC
AACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCATGCT
TTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCAT
TTTTTTTCCCTTTTAGTTAAGCATGACTTTAGATGGGAAGCCTGTGTATC

Protein Sequence    (SEQ ID NO:1138):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVF
TVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFN
THPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLP
KIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTL
LGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQ
RLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFR
ELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKR
QIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGF
MYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGF
GRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDG
VGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFK
RVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFG
SWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDK
STELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTII
NQPSVKPAAAKPAPAKPVAAKPVATKTATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
TENSAKLHWERPEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVS
TEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT


SNP Information

Context             (SEQ ID NO:8384):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4387
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1311, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1311, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1311, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8385):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  2983
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 843, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 843, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 843, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8386):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6020
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1856, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8387):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6223
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1923, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1923, (L,TTA)   (L,TTG)      1923, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8388):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  3944
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1164, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8389):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6709
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2085, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2085, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8390):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  3859
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1135, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1135, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8391):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3300
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 949, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 949, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8392):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8816
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2788, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:8393):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCTTGCTGTTACGGGCCCCTGGAGT
Celera SNP ID:            hCV25602729
SNP Position Transcript:  6940
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2162, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8394):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGTGGGCCAGTTCCCTGTTGTCCGTGACTTT
Celera SNP ID:            hCV25602835
SNP Position Transcript:  2328
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 625, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8395):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  8983
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2843, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:8396):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  2240
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 596, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8397):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4890
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1479, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8398):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  8977
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2841, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8399):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 587, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8400):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3116
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 888, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 888, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 888, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8401):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9060
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2869, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2869, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:8402):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8658
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2735, (A,GCG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2735, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:8403):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7450
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2332, (K,AAA)   (K,AAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2332, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:8404):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8345
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2631, (H,CAT)   (D,GAT)   



Context             (SEQ ID NO:8405):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7366
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2304, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2304, (N,AAC)   (N,AAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2304, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:8406):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8200
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2582, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2582, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8407):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  5959
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1835, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8408):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8305
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2617, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:8409):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6799
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2115, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2115, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2115, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8410):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9067
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2871, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2871, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8411):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2806, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:8412):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8413):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8676
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2741, (A,GCA)   (V,GTA)      2741, (V,GTA)   (A,GCA)      



Context             (SEQ ID NO:8414):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7783
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2443, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2443, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2443, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8415):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4165
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1237, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1237, (I,ATC)   (I,ATT)      1237, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8416):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1847
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 465, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8417):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9395
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1138, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1138, None   



Context             (SEQ ID NO:8418):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8674
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2740, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2740, (T,ACA)   (T,ACG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2740, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:8419):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6878
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2142, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8420):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  4581
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1376, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8421):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  3713
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1087, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1087, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8422):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  3961
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1169, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8423):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9265
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2937, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:8424):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3274
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 940, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 940, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8425):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8888
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2812, (P,CCT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2812, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:8426):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  2908
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 818, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8427):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  2067
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 538, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 538, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8428):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6507
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2018, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8429):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1682
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 410, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8430):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6835
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2127, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8431):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8268
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2605, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:8432):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  7999
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2515, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:8433):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 294, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 294, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8434):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7696
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2414, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:8435):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6091
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1879, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8436):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7363
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2303, (R,AGA)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 2303, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8437):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5234
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1594, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8438):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  4954
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1138, 1500, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8439):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  4913
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 1487, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8440):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8634
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2727, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2727, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1138, 2727, (T,ACG)   (M,ATG)      



Gene Number:                 168
Celera Gene:                 hCG23027 - 145000147122095
Celera Transcript:           hCT2304047 - 145000147122142
Public Transcript Accession: NM_004369
Celera Protein:              hCP1808723 - 197000064951364
Public Protein Accession:    NP_004360
Gene Symbol:                 COL6A3
Protein Name:                collagen, type VI, alpha 3
Celera Genomic Axis:         GA_x5YUV32VWPT(42860263..42951275)
Chromosome:                  Chr2
OMIM number:                 120250
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-3;COL6A3


Transcript Sequence (SEQ ID NO:442):
CGCTTGTAGGGTGAAGACAGAATTCAGAGGGTGACATCAGCCTGAGCGGGGGCCAGAAGAAACAGAGTGGAGGAGTCTGGTTTCATTTACAGTTTTGGGT
CAGTTCTGCAGTGAGGAGGGGGAGAGGAGGGGTCGGGGAGGGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAGCCCTGACTGGTATCCCTGGCCCCAGTCC
AGTTTGGAGCTCAGTCTTCCACCAAAGGCCGTTCAGTTCTCCTGGGCTCCAGCCTCCTGCAAGGACTGCAAGAGTTTTCCTCCGCAGCTCTGAGTCTCCA
CTTTTTTGGTGGAGAAAGGCTGCAAAAAGAAAAAGAGACGCAGTGAGTGGGAAAAGTATGCATCCTATTCAAACCTAATTGAATCGAGGAGCCCAGGGAC
ACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCCRTCTTTTGCCTCT
TTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGATTCCTCTTGGAC
CATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCTTAGCTGTGGGAGAAAATGATTTCCATTTTGCTCTGGTCCAG
TTCAACGGAAACCCACATACCGAGTTCCTGTTAAATACGTATCGTACTAAACAAGAAGTCCTTTCTCATATTTCCAACATGTCTTATATTGGGGGAACCA
ATCAGACTGGAAAAGGATTAGAATACATAATGCAAAGCCACCTCACCAAGGCTGCTGGAAGCCGGGCCGGTGACGGAGTCCCTCAGGTTATCGTAGTGTT
AACTGATGGACACTCGAAGGATGGCCTTGCTCTGCCCTCAGCGGAACTTAAGTCTGCTGATGTTAACGTGTTTGCAATTGGAGTTGAGGATGCAGATGAA
GGAGCGTTAAAAGAAATAGCAAGTGAACCGCTCAATATGCATATGTTCAACCTAGAGAATTTTACCTCACTTCATGACATAGTAGGAAACTTAGTGTCCT
GTGTGCATTCATCCGTGAGTCCAGAAAGGGCTGGGGACACGGAAACCCTTAAAGACATCACAGCACAAGACTCTGCTGACATTATTTTCCTTATTGATGG
ATCAAACAACACCGGAAGTGTCAATTTCGCAGTCATTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGG
GTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTTYTCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTG
GTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATTTCGTGGTGGAGAACCACTTCACCCGGGCAGGGGGCAGCCGCGTGGAGGAAGGGGTTCCCCAGGT
GCTGGTCCTCATAAGTGCCGGGCCTTCTAGTGACGAGATTCGCTACGGGGTGGTAGCACTGAAGCAGGCTAGCGTGTTCTCATTCGGCCTTGGAGCCCAG
GCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGGRACCTCCAGGAGAAATTAC
TGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCT
GGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATCYGAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATC
CAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTATTTCAATACCCATCCAACAAAAAGGGAAGTCATAACCGCTGTGCGGAAAATGA
AGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCAYGAGTTCAGCCGGCTACCGGGCTGCCGAGGGGAT
TCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATT
GGGAACAAGGGTGCYGATCAGGCTGAGCTGGAAGAGATCKCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCA
TGCTGCCTGGCTTGCTGGCACCTCTCASGACCCTCTCTGGAACCCCTGAAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGT
GGGCCAGTTCCCTGTTGTCCGTGACTTTCTCTACAAGATTATCGATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGAT
GATGTCAAGGTGGAGTCCCGTTTTGATGAGCACCAGAGTAAGCCTGAGATCCTGAATCTTGTGAAGAGAATGAAGATCAAGACGGGCAAAGCCCTCAACC
TGGGCTACGCGCTGGACTATGCACAGAGGTACATTTTTGTGAAGTCTGCTGGCAGCCGGATCGAGGATGGAGTGCTTCAGTTCCTGGTGCTGCTGGTCGC
AGGAAGGTCATCTGACCGTGTGGATGGGCCAGCAAGTAACCTGAAGCAGAGTGGGGTTGTGCCTTTCATCTTCCAAGCCAAGAACGCAGACCCTGCTGAG
TTAGAGCAGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAG
TGCACAAYGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGYTTCCCTCTGTTGAAAGA
GTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTG
AATTCATACATGAACMAGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCC
TGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACRGCCGACAGGTCTGGGGATGATGTGCR
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
GACTTTGCCGTGGCCATTCCCACCTTTCGCCAGCTGGGGACCGTCCAACAGGTCATCTCTGAGAGGGTGACCCAGCTCACCCGCGAGGAGCTGAGCAGGC
TGCAGCCGGTGTTGCAGCCTCTACCGAGCCCAGGTGTTGGTGGCAAGAGGGACGTGGTCTTTCTCATCGATGGGTCCCAAAGTGCCGGGCCTGAGTTCCA
GTACGTTCGCACCCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTG
GAGTTCCTGCTGWACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCC
TGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGGYGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGA
CGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCRTGGCCCCTTTCACGATYGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCG
CTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGAAACTGCTGACGCCCATCACGACCCTGACCTCAGAGCAGA
TCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACATYGTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCC
AGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCAGTAAAGTGAGAGTTGGGGTCGTGCAGTTCAGCAAT
GATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGGKTCCCCACTGAACA
CTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGGTCCTGGTCCTGGG
TGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACCRGAACATCGACAGAACAGAG
CTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATCATGAACTCGTTTGGACCCT
CCGCAGCCACTCCTGCACCTCCAGGGGTGGACACCCCTCCTCCTTCACGGCCAGAGAAGAAGAAAGCAGACATTGTGTTCCTGTTGGATGGTTCCATCAA
CTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGRGCTTGTCCAG
TACAACTCTGACYCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGRCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGAC
ACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTGAGGCAGGCAGCCGCCTGGACCAGCGGGTCCCTCAGATTGCCTTTGT
GATCACGGGAGGAAAGTCGGTGGAAGATGCACAGGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGAC
TCGGAGGAGGTTGGAAAGATAGCGTCCAACAGCRCCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTT
TGCATGATGCGATGCATGAAACCCTTTGCCCTGGTGTAACTGATGCTGCCAAAGCTTGTAATCTGGATGTGATTCTGGGGTTTGATGGTTCTAGAGACCA
GAATGTTTTTGTGGCCCAGAAGGGCTTCGAGTCCAAGGTGGACGCCATCTTGAACAGAATCAGCCAGATGCACAGGGTCAGCTGCAGCGGTGGCCGCTCG
CCCACCGTGCGTGTGTCAGTGGTGGCCAACACGCCCTCGGGCCCGGTGGAGGCCTTTGACTTTGACGAGTACCAGCCAGAGATGCTCGAGAAGTTCCGGA
ACATGCGCAGCCAGCACCCCTACGTCCTCACGGAGGACACCCTGAAGGTCTACCTGAACAAGTTCAGACAGTCCTCGCCGGACAGCGTGAAGGTGGTCAT
TCATTTTACTGATGGAGCAGACGGAGATCTGGCTGATTTACACAGAGCATCTGAGAACCTCCGCCAAGAAGGAGTCCGTGCCTTGATCCTGGTGGGCCTT
GAACGAGTGGTCAACTTGGAGCGGCTAATGCATCTGGAGTTTGGGCGAGGGTTTATGTATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATG
AACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAARTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCAT
CGGGCCAAAGGGTATTCCTRGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAAYGGCACTCAA
GGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATG
GTGAAGATGGAGACAAAGGATTRCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGG
AGATGTTGGGATTCGAGGGGACCCGGGTAACCCAGGACAAGACAGCCAGGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGGTGTCCCA
GGGAGAGATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTG
GCCAGCYGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGG
ACCTCGGGGAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGA
GGAATCGGSAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTYC
CTGGATACCCAGGACCAAAGGGTAACCCAGGTGARCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCYGAAGGGGAAATTCGGGACCTCC
AGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGMCCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGC
ATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTGGAGTGCCCCGTCTTCCCAACAGAACTAGCCTTTGCTTTAGACACCTCTGAGGGAGTCAAC
CAAGACACTTTCGGCCGGATGCGAGATGTGGTCTTGAGTATTGTGAATGACCTGACCATTGCTGAGAGCAACTGCCCACGGGGGGCCCGGGTGGCTGTGG
TCACCTACAACAACGAGGTGACCACGGAGATCCGGTTTGCTGACTCCAAGAGGAAGTCGGTCCTCCTGGACAAGATTAAGAACCTTCAGGTGGCTCTGAC
ATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGRAAYGGATTCCTAATGAGGAAAGTGGCTGTTTTC
TTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAARCTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAG
ACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGCTTGTCCTGCCTGCAGGGAGAGACCTCACAGACTTCCTGGAGAATGT
CCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAGY
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCRTACCTGGTCAGAC
AACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACAATGCCAGCATGCC
ACCTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCC
TTRGGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGC
CGGAGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAA
GGARGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAMCGAGGAGCCTTTGATGCGCTTCGGGAGG
CTGTTGCCRTCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCASATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACC
TTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTCAAGTCCTACATCCAACCCAGTGACGACAACGAAGCCGGTGACTACGACGAA
GCCGGTGACCACCACAACAAAGCCTGTAACCACCACAACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCT
GCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGAYGGCCACTGTTAGACCCCCAGTGGYGGTGAAGCCAGCAACRGYAGCGAAGCCTGTAGCAGCAA
AGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAA
GCCAGCCACCACTAAGCCCRTGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCARACTCCACTGGGAGAGGSCTGAGCCC
CCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACRGACCGYGTCATTGGAGGCC
TGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCAYCTACCAYGGAAGTTTCAGTACAAAGAAATCTCAGCC
CCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAGATATATGCAAGTTG
CCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGYGCAAGATTCTGGTATGGAGGTTGTGGTGGAA
ACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGGST
GGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTCA
TGCTTTGATTTACACTCGAACTCGGGAGGGAACATCCTGCTGCATGACCTATCAGTATGGTGCTAATGTGTCTGTGGACCCTCGCTCTCTGTCTCCAGGC
AGTTCTCTCGAATACTTTGAATGTTGTGTAACAGTTAGCCACTGCTGGTGTTTATGTGAACATTCCTATCAATCCAAATTCCCTCTGGAGTTTCATGTTA
TGCCTGTTGCAGGCAAATGTAAAGTCTAGAAAATAATGCAAATGTCACGGCTACTCTATATACTTTTGCTTGGTTCATTTTTTTTCCCTTTTAGTTAAGC
ATGACTTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTC
TTTTTYTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTWAA
AAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTKTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTT
TAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGTGACGTTCTTGGCAGTCTTGTTTCCATAGCAGCGATTGTCAGAA
TCACCCCTAGGCTGGGGAAACTGGGTTTGGTTCTGGCCCCATGGAGCTGTGCAACAGCCTTTCGTTTCCAGTGGAGGAGGCAAAAGAGCTTTATCAGCCA
GTGTGCAAAGAGACCGGCTGGAGACAAGCATCCCCCGCTTTGTGGATTCAGCCCCACATGCTCCAGTGCTCCATGGCCGAGCGGAAGGTGTTCCTGCTGT
TGGGTCCCGGCAGTGTTTCTGATTTTCAGAGTCAGGCTGGCTTCTATCTTTTCCTCTGACTCTTGGTTGGCCCTCAGAGCCTCAGCCTCCTCCTGTCTTC
CTCTCCACAGTGATCCTTTCCCAGGGGGTTGATTTGCTTCCTCTCACAATGGCTGAGAGATTCAGTGTTGCCCCACGACCCCCAACCCCTTTTCTGGAGT
CTCAAAGCACAAGGTCTTTCATTTTTTTGTTTTTCTTAAAGACTGTTTTTTTCTCTCTTCAGAAATAATACAAGAAACCAACAAATACATATTCAGGTGG
CACTTGAGTTCCACTTACAAAGGAAACAACTTATTGGATAAAATACATATGTCCTGACAAGTGCTGAGGGTAGAATTACAGGAATCTTGGGTGTCAGCAG
AAATGTTTTATGTAAAATCGGGATGAATTTGCCAGTTGGTCTATT

Protein Sequence    (SEQ ID NO:1139):
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQ
EVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNL
ENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVF
TVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFN
THPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLP
KIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTL
LGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQ
RLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFR
ELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKR
QIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGF
MYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGF
GRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDG
VGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPSTFHRAPGVPRL
PNRTSLCFRHL


SNP Information

Context             (SEQ ID NO:8441):
TGCAGTTCAGCAATGATGTCTTCCCAGAATTCTATCTGAAAACCTACAGATCCCAGGCCCCGGTGCTGGACGCCATACGGCGCCTGAGGCTCAGAGGGGG
K
TCCCCACTGAACACTGGCAAGGCTCTCGAATTTGTGGCAAGAAACCTCTTTGTTAAGTCTGCGGGGAGTCGCATAGAAGACGGGGTGCCCCAACACCTGG
Celera SNP ID:            hCV22275065
SNP Position Transcript:  4387
SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,30|T,10)   total(G,56|T,22)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1311, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,26|T,12)   caucasian(G,31|T,9)   total(G,57|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1311, (G,GGG)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1311, (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:8442):
TGAATCTCTTAAAATCAGTGCACAACGGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGG
Y
TTCCCTCTGTTGAAAGAGTTTGTCCAGAGAGTGGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCA
Celera SNP ID:            hCV1470345
SNP Position Transcript:  2983
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,22|T,10)   total(C,47|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 843, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,12)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 843, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,10)   total(C,10|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 843, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:8443):
CAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCT
R
GAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGG
Celera SNP ID:            hCV27861656
SNP Position Transcript:  6020
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1856, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8444):
ACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTG
C
AAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGT
Celera SNP ID:            hCV26050683
SNP Position Transcript:  8737
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|C,10)   total(C,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8445):
GACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCT
G
CAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCG
Celera SNP ID:            hCV26050684
SNP Position Transcript:  8736
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,10)   total(G,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8446):
AGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATGGTCTGGATGGTGAAGATGGAGACAAAGGATT
R
CCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGGTGATAAAGGACCTCGAGGAGAGAAAGGAGAAAGAGGAGATGTTGGGATTCGAGGGGACC
Celera SNP ID:            hCV270581
SNP Position Transcript:  6223
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,23)   caucasian(A,4|G,34)   total(A,13|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1923, (L,TTA)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1923, (L,TTA)   (L,TTG)      1923, (L,TTG)   (L,TTA)      



Context             (SEQ ID NO:8447):
AGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGC
T
GCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCC
Celera SNP ID:            hCV26050685
SNP Position Transcript:  8735
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,10)   total(T,10|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8448):
CCGCATTGAAGAGGGCGTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGC
R
TGGCCCCTTTCACGATCGCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCT
Celera SNP ID:            hCV25602812
SNP Position Transcript:  3944
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1164, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:8449):
GAAGCGGAGGTGCCGCTGGTGCTCCTGGAGAACGAGGCAGAACCGGTCCACTGGGAAGAAAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGG
S
AACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACC
Celera SNP ID:            hCV22274538
SNP Position Transcript:  6709
SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,18|G,22)   total(C,41|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2085, (G,GGC)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,423|C,824)   total(G,423|C,824)   no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2085, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:8450):
TGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTCCAGGAACATCTTCAAGAGGCCCCTGGGGAGCCGCATTGAAGAGGG
Y
GTCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGA
Celera SNP ID:            hCV25602813
SNP Position Transcript:  3859
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,30)   total(C,64|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1135, (G,GGC)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1135, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:8451):
CTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCACGGCCGACAGGTCTGGGGATGATGTGC
R
GAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAGAGATGCAGACCATCTCCTTCATCCCG
Celera SNP ID:            hCV25602814
SNP Position Transcript:  3300
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 949, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,36)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 949, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8452):
CCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCC
R
TGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGA
Celera SNP ID:            hCV11536018
SNP Position Transcript:  8820
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,10)   total(G,1|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8453):
GGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGG
M
CCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGATCAATGTGCCCTCATCCAAAGCATCAAAGATAAATGCCCCTCTACTTTCCACAGGGCCCCTG
Celera SNP ID:            hCV25602729
SNP Position Transcript:  6940
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,40)   total(A,77|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2162, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:8454):
AGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCG
Y
GTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCAGTACAA
Celera SNP ID:            hCV25602852
SNP Position Transcript:  8987
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,36|T,2)   total(C,63|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8455):
CTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCA
S
GACCCTCTCTGGAACCCCTGAAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAGCCAATCTTGTGGGCCAGTTCCCTGTTGTCCGTGACTTT
Celera SNP ID:            hCV25602835
SNP Position Transcript:  2328
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,36)   total(C,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 625, (T,ACG)   (R,AGG)   



Context             (SEQ ID NO:8456):
AGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGCCGATCAGGCTGAGCTGGAAGAGATC
K
CTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGCTGGCACCTCTCAGGACCCTCTCTGG
Celera SNP ID:            hCV25602836
SNP Position Transcript:  2240
SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,38)   total(G,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 596, (A,GCT)   (S,TCT)   



Context             (SEQ ID NO:8457):
TGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAGCTGAAGAGAAGCAGCATAATGGCCTTTGCCATTGGGAACAAGGGTGC
Y
GATCAGGCTGAGCTGGAAGAGATCGCTTTCGACTCCTCCCTGGTGTTCATCCCAGCTGAGTTCCGAGCCGCCCCATTGCAAGGCATGCTGCCTGGCTTGC
Celera SNP ID:            hCV25602837
SNP Position Transcript:  2215
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 587, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8458):
GGTTCCATCAACTTCAGGAGGGACAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGG
R
GCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAA
Celera SNP ID:            hCV27529362
SNP Position Transcript:  4890
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1479, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:8459):
ACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCAC
R
GACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
Celera SNP ID:            hCV25602853
SNP Position Transcript:  8981
SNP Source:               Applera
Population(Allele,Count): african american(G,16)   caucasian(A,1|G,37)   total(A,1|G,53)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8460):
GGTGGAAAGCCTGGATGTGGGCCAGGACCGGGTCCGCGTGGCCGTGGTGCAGTACAGCGACCGGACCAGGCCCGAGTTCTACCTGAATTCATACATGAAC
M
AGCAGGACGTCGTCAACGCTGTCCGCCAGCTGACCCTGCTGGGAGGGCCGACCCCCAACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGT
Celera SNP ID:            hCV9081822
SNP Position Transcript:  3116
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,2)   caucasian(A,36)   total(A,66|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 888, (K,AAG)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,31|C,3)   caucasian(A,40)   total(A,71|C,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 888, (K,AAG)   (Q,CAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,13)   total(A,13|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 888, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:8461):
CAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCA
Y
CTACCACGGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAA
Celera SNP ID:            hCV277090
SNP Position Transcript:  9064
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,23|T,11)   total(C,47|T,25)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,5)      total(C,4|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8462):
CAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGG
Y
GGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAG
Celera SNP ID:            hCV25602856
SNP Position Transcript:  8662
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,37|T,1)   total(C,49|T,1)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8463):
TTAAGCGTGTGAGGAACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAA
R
CTCTCAGATGCGGGGATCACCCCCTTGTTCCTTACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGATCAATAACACAGCAGTGGGGCATGCGC
Celera SNP ID:            hCV8684621
SNP Position Transcript:  7454
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,29)   total(A,8|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,13)      total(G,13|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,193|G,1278)   total(G,1278|A,193)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8464):
AGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCA
S
ATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGTTTGGTCACAAACAAGTAAATGTTCCGAATAACGTTACTTC
Celera SNP ID:            hCV25602857
SNP Position Transcript:  8349
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,30)   caucasian(G,32)   total(C,2|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8465):
ACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAGGAA
Y
GGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGGGGA
Celera SNP ID:            hCV8684622
SNP Position Transcript:  7370
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,3)   caucasian(C,26)   total(C,55|T,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,2)   caucasian(C,21|T,1)   total(C,51|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8466):
AGCAGCAGCTGGAGGAGGCCCAGAGAGTCATCCTGCAGGCCAAATGCAAGGGCTACTTCTTCGTGGTCCTGGGCATTGGCAGGAAGGTGAACATCAAGGA
R
GTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGT
Celera SNP ID:            hCV25602858
SNP Position Transcript:  8204
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,1|G,39)   total(A,1|G,65)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8467):
ATGACAGGCCCCTGAGGCTTAACTTGCTGGACTTGGATTATGAACTAGCGGAGCAGCTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAA
R
TGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTG
Celera SNP ID:            hCV25602786
SNP Position Transcript:  5959
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1835, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:8468):
ACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCAACGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCC
R
TCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGGTTCCAAGGGGACCAACCCACAAAGAACCTTGTGAAGT
Celera SNP ID:            hCV25602859
SNP Position Transcript:  8309
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,33|G,3)   total(A,65|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8469):
GAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATT
Y
CCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTC
Celera SNP ID:            hCV8684624
SNP Position Transcript:  6799
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,36|T,2)   total(C,66|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2115, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,36|T,2)   total(C,70|T,6)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2115, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2115, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8470):
TCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGGCAGACATACCATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCA
Y
GGAAGTTTCAGTACAAAGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGG
Celera SNP ID:            hCV15958163
SNP Position Transcript:  9071
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8471):
GGAGCCCAGGGACACACGCCTTCAGGTTTGCTCAGGGGTTCATATTTGGTGCTTAGACAAATTCAAAATGAGGAAACATCGGCACTTGCCCTTAGTGGCC
R
TCTTTTGCCTCTTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGATGTCAAAAATGGTGCGGCTGCTGATATAATATTTCTAGTGGA
Celera SNP ID:            hCV27855315
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,22)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 12, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8472):
CAGGCAGCCAAACCAGCTGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCA
R
ACTCCACTGGGAGAGGCCTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACG
Celera SNP ID:            hCV15958165
SNP Position Transcript:  8875
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8473):
GCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGG
Y
AGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGGCA
Celera SNP ID:            hCV176828
SNP Position Transcript:  8680
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,12)   total(C,12|T,1)Caucasian(T,1|C,283)   Chinese(T,0|C,60)   Japanese(T,0|C,20)   Tfrican(T,5|C,95)   total(C,458|T,6)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8474):
TGCTGACGCCCATCACGACCCTGACCTCAGAGCAGATCCAGAAGCTCTTAGCCAGCACTCGCTATCCACCTCCAGCAGTTGAGAGTGATGCTGCAGACAT
Y
GTCTTTCTGATCGACAGCTCTGAGGGAGTTAGGCCAGATGGCTTTGCACATATTCGAGATTTTGTTAGCAGGATTGTTCGAAGACTCAACATCGGCCCCA
Celera SNP ID:            hCV1471208
SNP Position Transcript:  4165
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,18)   caucasian(C,10|T,30)   total(C,30|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1237, (I,ATC)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1237, (I,ATC)   (I,ATT)      1237, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:8475):
GAGCGGCAGGGAGCGATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGC
R
TACCTGGTCAGACAACTGGACATGAGCCCAGATCCCAAGGCCTCCCAGCACTTCGCCAGAGTGGCAGTTGTGCAGCACGCGCCCTCTGAGTCCGTGGACA
Celera SNP ID:            hCV287451
SNP Position Transcript:  7787
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,14|G,26)   total(A,27|G,51)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(A,10|G,12)   total(A,16|G,30)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,9)      total(G,6|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8476):
GCCAACCATTGTCACACAAGTCATTGAAGTCAACAAGAGAGACATAGTCTTCCTGGTGGATGGCTCATCTGCACTGGGACTGGCCAACTTCAATGCCATC
Y
GAGACTTCATTGCTAAAGTCATCCAGAGGCTGGAAATCGGACAGGATCTTATCCAGGTGGCAGTGGCCCAGTATGCAGACACTGTGAGGCCTGAATTTTA
Celera SNP ID:            hCV27859768
SNP Position Transcript:  1847
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 465, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8477):
AAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAGTCATCAGTGTGATGGGAACCTAAGCGTGG
S
TGGCCAACATCATATACCTCTTGAAGAAGAAGGAGTCAGCCATCGCCAACTTGTCTCTGTAGAAGCTCCGGGTGTAGATTCCCTTGCACTGTATCATTTC
Celera SNP ID:            hCV22273474
SNP Position Transcript:  9399
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,25)   caucasian(C,2|G,38)   total(C,9|G,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8478):
CAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGC
Y
GAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGGTCCCAAGGGCAACAGGGGCGACTCCATCGA
Celera SNP ID:            hCV27859769
SNP Position Transcript:  6878
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 2142, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:8479):
CAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAAC
R
GCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCAAAACCAGTGGCGACCAAGCCTGAGGTCCCTAGGCCACAGG
Celera SNP ID:            hCV11536021
SNP Position Transcript:  8678
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,2|G,36)   total(A,2|G,66)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,12)   total(G,12|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8480):
CACCTGGTCCTGGTCCTGGGTGGAAAATCCCAGGACGATGTGTCCAGGTTCGCCCAGGTGATCCGTTCCTCGGGCATTGTGAGTTTAGGGGTAGGAGACC
R
GAACATCGACAGAACAGAGCTGCAGACCATCACCAATGACCCCAGACTGGTCTTCACAGTGCGAGAGTTCAGAGAGCTTCCCAACATAGAAGAAAGAATC
Celera SNP ID:            hCV25602803
SNP Position Transcript:  4581
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,39)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1376, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8481):
CCTCATAGAGAGGCTGGTTGACTACCTGGACGTGGGCTTTGACACCACCCGGGTGGCTGTCATCCAGTTCAGCGATGACCCCAAGGTGGAGTTCCTGCTG
W
ACGCCCATTCCAGCAAGGATGAAGTGCAGAACGCGGTGCAGCGGCTGAGGCCCAAGGGAGGGCGGCAGATCAACGTGGGCAATGCCCTGGAGTACGTGTC
Celera SNP ID:            hCV25602804
SNP Position Transcript:  3713
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,26)   total(A,61|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1087, (N,AAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,40)   total(A,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1087, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:8482):
TCCCGCAGTTCCTGGTCCTCATCTCGTCTGGAAAGTCTGACGATGAGGTGGACGACCCGGCGGTGGAGCTCAAGCAGTTTGGCGTGGCCCCTTTCACGAT
Y
GCCAGGAACGCAGACCAGGAGGAGCTGGTGAAGATCTCGCTGAGCCCCGAATATGTGTTCTCGGTGAGCACCTTCCGGGAGCTGCCCAGCCTGGAGCAGA
Celera SNP ID:            hCV25602805
SNP Position Transcript:  3961
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1169, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8483):
TGGCTCTCACTGAAACAGATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTG
Y
GCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTGTGCTCGCCAAACCCGGAG
Celera SNP ID:            hCV26050678
SNP Position Transcript:  9269
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,9)   total(C,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8484):
ACACCGGGGCCGCCCTGGAGTTTGTCCTGAGGAACATCCTGGTCAGCTCTGCGGGAAGCAGGATAACAGAAGGTGTGCCCCAGCTGCTGATCGTCCTCAC
R
GCCGACAGGTCTGGGGATGATGTGCGGAACCCCTCCGTGGTCGTGAAGAGGGGTGGGGCTGTGCCCATTGGCATTGGCATCGGGAACGCTGACATCACAG
Celera SNP ID:            hCV25602822
SNP Position Transcript:  3274
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 940, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 940, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8485):
TGCCACCAAGCCAGCCACCACTAAGCCCATGGTTAAGATGTCCCGTGAAGTCCAGGTGTTTGAGATAACAGAGAACAGCGCCAAACTCCACTGGGAGAGG
S
CTGAGCCCCCCGGTCCTTATTTTTATGACCTCACCGTCACCTCAGCCCATGATCAGTCCCTGGTTCTGAAGCAGAACCTCACGGTCACGGACCGCGTCAT
Celera SNP ID:            hCV22274459
SNP Position Transcript:  8892
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,1)   caucasian(C,25|G,13)   total(C,58|G,14)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8486):
AGATCGTGCTGTCTCCAGCGTTTATCCTGGCTGCAGAGTCGCTTCCCAAGATTGGAGATCTTCATCCACAGATAGTGAATCTCTTAAAATCAGTGCACAA
Y
GGAGCACCAGCACCAGTTTCAGGTGAAAAGGACGTGGTGTTTCTGCTTGATGGCTCTGAGGGCGTCAGGAGCGGCTTCCCTCTGTTGAAAGAGTTTGTCC
Celera SNP ID:            hCV25602823
SNP Position Transcript:  2908
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,38)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 818, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8487):
AAAAGGGAAGTCATAACCGCTGTGCGGAAAATGAAGCCCCTGGACGGCTCGGCCCTGTACACGGGCTCTGCTCTAGACTTTGTTCGTAACAACCTATTCA
Y
GAGTTCAGCCGGCTACCGGGCTGCCGAGGGGATTCCTAAGCTTTTGGTGCTGATCACAGGTGGTAAGTCCCTAGATGAAATCAGCCAGCCTGCCCAGGAG
Celera SNP ID:            hCV25602841
SNP Position Transcript:  2067
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 538, (T,ACG)   (M,ATG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,2)   caucasian(C,36)   total(C,46|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 538, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8488):
GATGGAGTACCTGGAGGACCTGGAGAAACTGGGAAGAATGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGGCAACAAGGGCGGTCCTGGCCAGC
Y
GGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGG
Celera SNP ID:            hCV22275637
SNP Position Transcript:  6507
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,7)   caucasian(C,37|T,3)   total(C,68|T,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 2018, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:8489):
ATTCGGCCTTGGAGCCCAGGCCGCCTCCAGGGCAGAGCTTCAGCACATAGCTACCGATGACAACTTGGTGTTTACTGTCCCGGAATTCCGTAGCTTTGGG
R
ACCTCCAGGAGAAATTACTGCCGTACATTGTTGGCGTGGCCCAAAGGCACATTGTCTTGAAACCGCCAACCATTGTCACACAAGTCATTGAAGTCAACAA
Celera SNP ID:            hCV25602843
SNP Position Transcript:  1682
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 410, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:8490):
GAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAAGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGGTAACCCAGGTGA
R
CCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACC
Celera SNP ID:            hCV25602738
SNP Position Transcript:  6835
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 2127, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8491):
TTCTTTTTCTGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTT
W
AAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTTGTGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATG
Celera SNP ID:            hCV11936094
SNP Position Transcript:  9998
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8492):
CTGGGCATTGGCAGGAAGGTGAACATCAAGGAGGTATACACCTTCGCCAGTGAGCCAAACGACGTCTTCTTCAAATTAGTGGACAAGTCCACCGAGCTCA
M
CGAGGAGCCTTTGATGCGCTTCGGGAGGCTGTTGCCATCCTTCGTCAGCAGTGAAAATGCTTTTTACTTGTCCCCAGATATCAGGAAACAGTGTGATTGG
Celera SNP ID:            hCV25602860
SNP Position Transcript:  8272
SNP Source:               Applera
Population(Allele,Count): african american(A,24|C,8)   caucasian(A,38)   total(A,62|C,8)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8493):
TTCTCGACTTCCTTGTAAATCTCCTTGAGAAACTCCCAATTGGAACTCAGCAGATCCGAGTGGGGGTGGTCCAGTTTAGCGATGAGCCCAGAACCATGTT
Y
TCCTTGGACACCTACTCCACCAAGGCCCAGGTTCTGGGTGCAGTGAAAGCCCTCGGGTTTGCTGGTGGGGAGTTGGCCAATATCGGCCTCGCCCTTGATT
Celera SNP ID:            hCV25602844
SNP Position Transcript:  1336
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 294, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 294, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:8494):
CTGTGAAGGTGGAATTCTCCCTGACTGACTATGGCTCCAAGGAGAAGCTGGTGGACTTCCTCAGCAGGGGAATGACACAGTTGCAGGGAACCAGGGCCTT
R
GGCAGTGCCATTGAATACACCATAGAGAATGTCTTTGAAAGTGCCCCAAACCCACGGGACCTGAAAATTGTGGTCCTGATGCTGACGGGCGAGGTGCCGG
Celera SNP ID:            hCV25602861
SNP Position Transcript:  8003
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8495):
CTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTTGTAATAGAGAATATTTTTGGCATTCCTCTAATGTTGTGTGTTTTTTTTTT
K
TGTGTGCTGGAGGGAGGGGATTTAATTTTAATTTTAAAATGTTTAGGAAATTTATACAAAGAAACTTTTTAATAAAGTATATTGAAAGTTTCCTGGGTGT
Celera SNP ID:            hCV454519
SNP Position Transcript:  10057
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,8)      total(G,8|T,3) ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8496):
TCCTCACGTGTCATGTTTGCTTGGACATCTGCAACATCGACCCATCCTGTGGATTTGGCAGTTGGAGGCCTTCCTTCAGGGACAGGAGAGCGGCAGGGAG
Y
GATGTGGACATCGACATGGCTTTCATCTTAGACAGCGCTGAGACCACCACCCTGTTCCAGTTCAATGAGATGAAGAAGTACATAGCATACCTGGTCAGAC
Celera SNP ID:            hCV25602862
SNP Position Transcript:  7700
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,37|T,3)   total(C,67|T,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8497):
TCGGCAGCATCGGGCCAAAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCGGTGAGCGTGGTCCGCCTGGTGTGAA
Y
GGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGGCTCTCGGGGATTCCCAGGAGAGAAGGGCGAAGTAGGAGAAATTGGACTGGATG
Celera SNP ID:            hCV25602776
SNP Position Transcript:  6091
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1879, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8498):
TTTAGATGGGAAGCCTGTGTATCGTGGAGAAACAAGAGACCAACTTTTTCATTCCCTGCCCCCAATTTCCCAGACTAGATTTCAAGCTAATTTTCTTTTT
Y
TGAAGCCTCTAACAAATGATCTAGTTCAGAAGGAAGCAAAATCCCTTAATCTATGTGCACCGTTGGGACCAATGCCTTAATTAAAGAATTTAAAAAAGTT
Celera SNP ID:            hCV8738462
SNP Position Transcript:  9906
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Context             (SEQ ID NO:8499):
GGATGTGAGCCTGGCCCTCACCCAGAGGGGGGTCAAAGTGTTTGCTGTTGGAGTGAGGAATATCGACTCGGAGGAGGTTGGAAAGATAGCGTCCAACAGC
R
CCACAGCGTTCCGCGTGGGCAACGTCCAGGAGCTGTCCGAACTGAGCGAGCAAGTTTTGGAAACTTTGCATGATGCGATGCATGAAACCCTTTGCCCTGG
Celera SNP ID:            hCV25602794
SNP Position Transcript:  5234
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,37)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1594, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8500):
TGGACAAGATTAAGAACCTTCAGGTGGCTCTGACATCCAAACAGCAGAGTCTGGAGACTGCCATGTCGTTTGTGGCCAGGAACACATTTAAGCGTGTGAG
R
AACGGATTCCTAATGAGGAAAGTGGCTGTTTTCTTCAGCAACACACCCACAAGAGCATCCCCACAGCTCAGAGAGGCTGTGCTCAAGCTCTCAGATGCGG
Celera SNP ID:            hCV25602867
SNP Position Transcript:  7367
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,2|G,26)   total(A,2|G,60)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,21)   total(A,1|G,57)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None



Context             (SEQ ID NO:8501):
ACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAG
R
CAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAAGGTGGGCCTTGAGCACCTGCGGGTAAACCACTTTGTGCCTG
Celera SNP ID:            hCV25602795
SNP Position Transcript:  4954
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1139, 1500, (R,AGA)   (R,AGG)   



Context             (SEQ ID NO:8502):
CAGTTTCCAGGAAGTGCTTCGTTTTGTGTCTGAAATAGTGGACACAGTTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGAC
Y
CCACTGACGAATTCTTCCTGAAGGACTTCTCTACCAAGAGGCAGATTATTGACGCCATCAACAAAGTGGTCTACAAAGGGGGAAGACACGCCAACACTAA
Celera SNP ID:            hCV25602796
SNP Position Transcript:  4913
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1139, 1487, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:8503):
ACAAAGCCTGTGACTATTATAAATCAGCCATCTGTGAAGCCAGCCGCTGCAAAGCCGGCCCCTGCGAAACCTGTGGCTGCCAAGCCTGTGGCCACAAAGA
Y
GGCCACTGTTAGACCCCCAGTGGCGGTGAAGCCAGCAACGGCAGCGAAGCCTGTAGCAGCAAAGCCAGCAGCTGTAAGACCCCCCGCTGCTGCTGCTGCA
Celera SNP ID:            hCV22273604
SNP Position Transcript:  8638
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,5)   caucasian(C,21|T,17)   total(C,42|T,22)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,23|T,15)   total(C,55|T,21)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1139, None   



Gene Number:                 169
Celera Gene:                 hCG23215 - 79000076095452
Celera Transcript:           hCT14320 - 79000076095453
Public Transcript Accession: 
Celera Protein:              hCP40619 - 197000069391371
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(51360775..51387702)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:443):
CTGAGTCCCGCAGGCCCTGCGTCCCCGCTGCACACCCCCGTCCACTCCCGTGGTCCCCGGTCCGGCATGGCGCGCGCGGTGGGGCCCGAGCGGAGGCTGC
TGGCCGTCTACACCGGCGGCACCATTGGCATGCGGAGTGAGCTCGGCGTGCTTGTGCCCGGGACGGGCCTGGCTGCCATCCTGAGGACACTGCCCATGTT
CCATGACGAGGAGCAYGCCCGAGCCCGCGGCCTCTCTGAGGACACCCTGGTGCTACCCCCGGMCAGCCGCAACCAGAGGATYCTCTACACCGTGCTGGAG
TGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTTYGCSTTGCCCAGACCATCAAGAGGCACTACGAGCAGTACCAYGGCTTTGTGG
TCATCCACGGCACCGACACCATGGCCTTTGCTGCCTCGATGCTGTCCTTCATGCTGGAGAACCTGCAGAAGACTGTCATCCTCACTGGGGCCCAGGTGCC
CATCCATGCCCTGTGGAGCGACGGCCGTGAGAACCTKCTGGGGGCACTGCTCATGGCTGGCCAGTATGTGATCCCAGAGGTCTGCCTTTTCTTCCAGAAT
CAGCTGTTTCGGGGCAACCGGGCAACCAAGGTAGACGCTCGGAGGTTCGCAGCTTTCTGCTCCCCGAACCTGCTGCCTCTGGCCACAGTGGGTGCTGACA
TCACAATCAACAGGGAGCTGGTGCGGAAGGTGGACGGGAAGGCTGGGCTGGTGGTGCACAGCAGCATGGAGCAGGACGTGGGCCTGCTGCGCCTCTACCC
TGGGATCCCTGCCGCCCTGGTTCGGGCCTTCTTGCAGCCTCCCCTGAAGGGCGTGGTCATGGAGACCTTCGGTTCAGGGAACGGACCCACCAAGCCCGAC
CTGCTGCAGGAGCTGCGGGTGGCCACCGAGCGCGGCCTGGTCATCGTCAACTGTACCCACTGCCTCCAGGGGGCTGTGACCACAGACTATGMAGCTGGCA
TGGCCATGGCGGGAGCCGGCGTCATCTCAGGCTTCGACATGACATCGGAGGCCGCCCTGGCCAAGCTATCGTATGTGCTGGGCCAGCCAGGGCTGAGSCT
GGATGTCAGGAAGGAGCTGCTGACCAAGGACCTTCGGGGGGAGATGACGCCACCCTCGGTGGAAGAGCGCCGGCCCTCACTGCAGGGCAACACGCTGGGC
GGTGGGGTCTCCTGGCTCCTCAGTCTGAGCGGCAGCCAGGAGGCAGATGCCCTGCGGAATGCCCTGGTGCCCAGCCTGGCCTGTGCTGCTGCCCACGCCG
GTGACGTGGAGGCGCTGCAGGCGCTTGTGGAGCTGGGCAGTGACCTGGGCCTGGTGGACTTTAACGGCCAAACCCCACTGCACGCGGCCGCCCGGGGAGG
CCACACAGAGGCAGTCACCATGCTGCTGCAGAGAGGTGTGGACGTGAACACCCGGGACACGGATGGCTTCAGCCCGCTGCTGCTGGCCGTGCGGGGCAGG
CATCCGGGTGTCATTGGGTTGCTSCGGGAAGCCGGGGCCTCCCTGTCCACCCAGGAGCTGGAGGAAGCAGGGACGGAGCTGTGCAGGCTGGCATACAGGG
CCGACCTCGAAGGCCTGCAGGTGTGGTGGCAGGCAGGGGCTGACCTGGGGCAGCCGGGCTATGACGGGCACAGCGCCCTGCACGTCGCAGAGGCAGCCGG
GAACCTGGCAGTGGTGGCCTTTCTACAGAGCCTGGAGGGTGCGGTTGGTGCCCAGGCCCCATGCCCAGAAGTGCTGCCTGGTGTCTAACCTGAAGGCGTC
CTGCTGCAGTATAAGCCATTCCTTCCTCCCATGACCTGCTGGAGGGGTCTCAGGCATGACCCCACTGCTGGGGCTG

Protein Sequence    (SEQ ID NO:1140):
MARAVGPERRLLAVYTGGTIGMRSELGVLVPGTGLAAILRTLPMFHDEEHARARGLSEDTLVLPPASRNQRILYTVLECQPLFDSSDMTIAEWVCLAQTI
KRHYEQYHGFVVIHGTDTMAFAASMLSFMLENLQKTVILTGAQVPIHALWSDGRENLLGALLMAGQYVIPEVCLFFQNQLFRGNRATKVDARRFAAFCSP
NLLPLATVGADITINRELVRKVDGKAGLVVHSSMEQDVGLLRLYPGIPAALVRAFLQPPLKGVVMETFGSGNGPTKPDLLQELRVATERGLVIVNCTHCL
QGAVTTDYAAGMAMAGAGVISGFDMTSEAALAKLSYVLGQPGLSLDVRKELLTKDLRGEMTPPSVEERRPSLQGNTLGGGVSWLLSLSGSQEADALRNAL
VPSLACAAAHAGDVEALQALVELGSDLGLVDFNGQTPLHAAARGGHTEAVTMLLQRGVDVNTRDTDGFSPLLLAVRGRHPGVIGLLREAGASLSTQELEE
AGTELCRLAYRADLEGLQVWWQAGADLGQPGYDGHSALHVAEAAGNLAVVAFLQSLEGAVGAQAPCPEVLPGV


SNP Information

Context             (SEQ ID NO:8504):
TGCTGCAGAGAGGTGTGGACGTGAACACCCGGGACACGGATGGCTTCAGCCCGCTGCTGCTGGCCGTGCGGGGCAGGCATCCGGGTGTCATTGGGTTGCT
S
CGGGAAGCCGGGGCCTCCCTGTCCACCCAGGAGCTGGAGGAAGCAGGGACGGAGCTGTGCAGGCTGGCATACAGGGCCGACCTCGAAGGCCTGCAGGTGT
Celera SNP ID:            hCV25998214
SNP Position Transcript:  1524
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,27)   caucasian(G,38)   total(C,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 486, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:8505):
TGAGGACACTGCCCATGTTCCATGACGAGGAGCACGCCCGAGCCCGCGGCCTCTCTGAGGACACCCTGGTGCTACCCCCGGCCAGCCGCAACCAGAGGAT
Y
CTCTACACCGTGCTGGAGTGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTTTGCCTTGCCCAGACCATCAAGAGGCACTACGAGC
Celera SNP ID:            hCV7504711
SNP Position Transcript:  282
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,1)   caucasian(C,4|T,30)   total(C,13|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 72, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 72, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:8506):
CCGTGCTGGAGTGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTTTGCCTTGCCCAGACCATCAAGAGGCACTACGAGCAGTACCA
Y
GGCTTTGTGGTCATCCACGGCACCGACACCATGGCCTTTGCTGCCTCGATGCTGTCCTTCATGCTGGAGAACCTGCAGAAGACTGTCATCCTCACTGGGG
Celera SNP ID:            hCV25973133
SNP Position Transcript:  390
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 108, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:8507):
GGTGCTACCCCCGGCCAGCCGCAACCAGAGGATTCTCTACACCGTGCTGGAGTGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTT
Y
GCCTTGCCCAGACCATCAAGAGGCACTACGAGCAGTACCACGGCTTTGTGGTCATCCACGGCACCGACACCATGGCCTTTGCTGCCTCGATGCTGTCCTT
Celera SNP ID:            hCV7504720
SNP Position Transcript:  349
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 95, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:8508):
AAGCCCGACCTGCTGCAGGAGCTGCGGGTGGCCACCGAGCGCGGCCTGGTCATCGTCAACTGTACCCACTGCCTCCAGGGGGCTGTGACCACAGACTATG
M
AGCTGGCATGGCCATGGCGGGAGCCGGCGTCATCTCAGGCTTCGACATGACATCGGAGGCCGCCCTGGCCAAGCTATCGTATGTGCTGGGCCAGCCAGGG
Celera SNP ID:            hCV25996281
SNP Position Transcript:  992
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,25)   caucasian(C,34)   total(A,1|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 309, (E,GAA)   (A,GCA)   



Context             (SEQ ID NO:8509):
GCTACCCCCGGCCAGCCGCAACCAGAGGATTCTCTACACCGTGCTGGAGTGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTTTGC
S
TTGCCCAGACCATCAAGAGGCACTACGAGCAGTACCACGGCTTTGTGGTCATCCACGGCACCGACACCATGGCCTTTGCTGCCTCGATGCTGTCCTTCAT
Celera SNP ID:            hCV7504721
SNP Position Transcript:  352
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 96, (L,CTT)   (V,GTT)      



Context             (SEQ ID NO:8510):
ACGGGCCTGGCTGCCATCCTGAGGACACTGCCCATGTTCCATGACGAGGAGCACGCCCGAGCCCGCGGCCTCTCTGAGGACACCCTGGTGCTACCCCCGG
M
CAGCCGCAACCAGAGGATTCTCTACACCGTGCTGGAGTGCCAGCCCCTCTTCGACTCCAGTGACATGACCATCGCTGAGTGGGTTTGCCTTGCCCAGACC
Celera SNP ID:            hCV25959272
SNP Position Transcript:  263
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,23)   caucasian(C,38)   total(A,1|C,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 66, (D,GAC)   (A,GCC)   



Context             (SEQ ID NO:8511):
CGATGCTGTCCTTCATGCTGGAGAACCTGCAGAAGACTGTCATCCTCACTGGGGCCCAGGTGCCCATCCATGCCCTGTGGAGCGACGGCCGTGAGAACCT
K
CTGGGGGCACTGCTCATGGCTGGCCAGTATGTGATCCCAGAGGTCTGCCTTTTCTTCCAGAATCAGCTGTTTCGGGGCAACCGGGCAACCAAGGTAGACG
Celera SNP ID:            hCV7504743
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,7)   caucasian(G,32|T,2)   total(G,55|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 157, (L,CTG)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 157, (L,CTG)   (L,CTT)      157, (L,CTT)   (L,CTG)      



Context             (SEQ ID NO:8512):
GCGGCACCATTGGCATGCGGAGTGAGCTCGGCGTGCTTGTGCCCGGGACGGGCCTGGCTGCCATCCTGAGGACACTGCCCATGTTCCATGACGAGGAGCA
Y
GCCCGAGCCCGCGGCCTCTCTGAGGACACCCTGGTGCTACCCCCGGCCAGCCGCAACCAGAGGATTCTCTACACCGTGCTGGAGTGCCAGCCCCTCTTCG
Celera SNP ID:            hCV25957629
SNP Position Transcript:  216
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,33|T,1)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1140, 50, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:8513):
GCATGGCCATGGCGGGAGCCGGCGTCATCTCAGGCTTCGACATGACATCGGAGGCCGCCCTGGCCAAGCTATCGTATGTGCTGGGCCAGCCAGGGCTGAG
S
CTGGATGTCAGGAAGGAGCTGCTGACCAAGGACCTTCGGGGGGAGATGACGCCACCCTCGGTGGAAGAGCGCCGGCCCTCACTGCAGGGCAACACGCTGG
Celera SNP ID:            hCV25971385
SNP Position Transcript:  1098
SNP Source:               Applera
Population(Allele,Count): african american(C,20)   caucasian(C,27|G,3)   total(C,47|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 344, (S,AGC)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1140, 344, (S,AGC)   (R,AGG)      



Gene Number:                 170
Celera Gene:                 hCG23227 - 104000116630266
Celera Transcript:           hCT2268644 - 104000116630347
Public Transcript Accession: NM_002843
Celera Protein:              hCP1861056 - 197000069374190
Public Protein Accession:    NP_002834
Gene Symbol:                 PTPRJ
Protein Name:                protein tyrosine phosphatase, receptor type, J;CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1
Celera Genomic Axis:         GA_x5YUV32VW1T(2676457..2864196)
Chromosome:                  Chr11
OMIM number:                 600925
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J;PTPRJ


Transcript Sequence (SEQ ID NO:444):
GAGCAGCCGCGGGAGCCGGGACCGGGTAGCCGCGCGCTGGGGGTGGGCGCCGCTCGCTCCGCCCCGCGAAGCCCCTGCGCGCTCAGGGACGCGGCCCCCC
CGCGGCAGCCGCGCTAGGCTCCGGCGTGTGGCCGCGGCCGCCGCCGCCGCTGCCATGTCTCCGGGGAAGCCCGGGGCGGGCGGAGCGGGGACGAGGCGGA
CCGGCTGGCGGAGGAGGAGGCGAAGGAGACGGCAGGAGGCGGCGACGACGGTGCCCGGGCTCGGGCGCACGGCGGGGCCCGATTCGCGCGTCCGGGGCAC
GTTCCAGGGCGCGCGGGGCATGAAGCCGGCGGCGCGGGAGGCGCGGCTGCCTCCGCGCTCGCCCGGGCTGCGCTGGGCGCTGCCGCTGCTGCTGCTGCTG
CTGCGCCTGGGCCAGGTAAGCGCCGGGTGGCCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAG
CAGTACAGCAGAATCCTTTCATAAACAGAATGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGT
TTAAGAACACCTGAACAAGGATCTAATGGGACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTT
CCATCAGTCCAACCAATGTGATCTTAACTTGGAAAAGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGAC
AATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCARTGAGACTTGG
GGAGATCCCAGAGTCATAAAAGTCATCACAGARCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCA
ATGGCAATGGCACYGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCT
GAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACMATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATRCCAGCAAT
ACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCRAGACACGG
AAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTT
CAGGACAAATGCTATTCAGGTTTTTGACRTCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCT
AACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTCRCGCTGTCATCCCCGGACTCCGCTCCAGCACCT
TCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCRCACCCCCCCTGTTCCAGTTTCTGACTTCCGAGT
GACAGTGGTCAGCACGACGGAGATCGGCTTRGCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGG
GTAGAAATAACCACCAACCAAAGTATTATCATTGGTGGCTTGTTCCCTGGAACCAAGTATTGCTTTGAAATAGTTCCAAAAGGACCAAATGGGACTGAAG
GGGCATCTCGGACAGTTTGCAATAGAACTGTTCCCAGTGCAGTGTTTGACATCCACGTGGTCTACGTCACCACCACGGAGATGTGGCTGGACTGGAAGAG
CCCTGACGGTGCTTCCGAGTATGTCTACCATTTAGTCATAGAGTCCAAGCATGGCTCTAACCACACAAGCACGTATGACAAAGCGATTACTCTCCAGGGC
CTGATTCCGGGCACCTTATATAACATCACCATCTCTCCAGAAGTGGACCACGTCTGGGGGGACCCCAACTCCACTGCACAGTACACACGGCCCAGCAATG
TGTCCAACATTGATGTAAGTACCAACACCACAGCAGCAACTTTAAGTTGGCAGAACTTTGATGACGCCTCTCCCACGTACTCCTACTGCCTTCTTATTGA
GAAGGCTGGAAATTCCAGCAACGCAACACAAGTAGTCACGGACATTGGAATTACTGACGCTACAGTCACTGAATTAATACCTGGCTCATCATACACAGTG
GAGATCTTTGCACAAGTAGGGGATGGGATCAAGTCACTGGAACCTGGCCGGAAGTCATTCTGTACAGATCCTGCGTCCATGGCCTCCTTCGACTGCGAAG
TGGTCCCCAAAGAGCCAGCCCTGGTTCTCAAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGC
GACCCACCTGGAGAGCTGCTCCTCTGAGARTGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACT
GTGTCCTGTGGAAAGATGGCAGCCCCCACCCGGAACACCTGCACTACTGGCATCACAGATCCCCCTCCTCCAGATGGATCCCCTAATATTACATCTGTCA
GTCACAATTCAGTAAAGGTCAAGTTCAGTGGATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCC
TTCTGCAGATGTCCTGAAATACACGTATGASGATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCT
CAGAGCTTGTCTGAAGTTTTGAAATATGAAATTGACGTTGGGAATGAGTCAACCACACTTGGTTATTACAATGGGAAGCTGGAACCTCTGGGCTCCTACC
GGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGYTGAGAGCTATGTGTCCTTCAGTCGYTACTCAGA
TGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCTTCATCTTC
TGGAGAAAGAAGAGGAAAGATGCAAAGAATAATGAAGTGTCCTTTTCTCAAATTAAATCTAAGTTAATCAGAGTGGAGAATTTTGAGGCCTACTTCAAGA
AGCAGCAAGCTGACTCCAACTGTGGGTTCGCAGAGGAATACGAAGATCTGAAGCTTGTTGGAATTAGTCAACCTAAATATGCAGCAGAACTGGCTGAGAA
TAGAGGAAAGAATCGCTATAATAATGTTCTGCCCTATGATATTTCCCGTGTCAAACTTTCGGTCCAGACCCATTCAACGGATGACTACATCAATGCCAAC
TACATGCCTGGCTACCACTCCAAGAAAGATTTTATTGCCACACAAGGACCTTTACCGAACACTTTGAAAGATTTTTGGCGTATGGTTTGGGAGAAAAATG
TATATGCCATCATTATGTTGACTAAATGTGTTGAACAGGGAAGAACCAAATGTGAGGAGTATTGGCCCTCCAAGCAGGCTCAGGACTATGGAGACATAAC
TGTGGCAATGACATCAGAAATTGTTCTTCCGGAATGGACCATCAGAGATTTCACAGTGAAAAATATCCAGACAAGTGAGAGTCACCCTCTGAGACAGTTC
CATTTCACCTCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCG
AATCGCCGAYTCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGT
GGATGTGTATGGGATTGTGTATGACCTTCGAATGCATAGGCCTTTAATGGTGCAGACAGAGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGGATATT
GTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCRCCCGTGACCACATTTGGAAAGA
CCAATGGTTACATMGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTT
TTATATGTCTAATATCTTAATTCTTTGTTCTGTTTTGTGAGAACTAATTTTGAGGGCATGAAGCTGCATATGATAGATGACAAATTGGGGCTGTCGGGGG
CTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGYGGAAAACCAGGA
AAAGGGAKCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATA
TATTTTAAGTATCAGAGGTCTATTTTTACCTACTGTGTCTTGGAATCTAGCCGATGGAAAATACCTAATTGTGGATGATGATTGCGCAGGGAGGGGTACG
TGGCACCTCTTCCGAATGGGTTTTCTATTTGAACATGTGCCTTTTCTGAATTATGCTTCCACAGGCAAAACTCAGTAGAGATCTATATTTTTGTACTGAA
TCTCATAATTGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTC
TTTGCCCCGRCYCCGCTTCCCCTGCCCCCTGTASATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAAC
ATTTTCAACCCATTGGTTGGGTGAGAATGGCGACTCAAATATCACCTTGAGAATTTCTGTGGGTGGGAATGGGAGAAGCAGAGGAATCCTACAGTGGCAG
AAATCCTTTTCTTGTCCCTGTATTATCCTTTTTCTCATGTCTGTATTTGGTATGAAGGATTATTTAAAGGTGCAATATGTGAATTAGTGATTCATGATGT
TCTAGGTTTTTAGTAACGTTTTACTCAGGTTGGCATTTTATGTGTCTGTGTCTGTATGTGTGTGTGTATGTTCAGAAGCGTGGCAATCTGTGAACACTTC
AGCGTGAATTCAGTGTCAGATTAATCCCTCCTTCCCCAAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATA
TATATATATATATATATATATATATATATATATATATRCACTA

Protein Sequence    (SEQ ID NO:1141):
MENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPVSDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQ
VNISGLKPGVQYNINPYLLPSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVGPVDPSSGQQSQDTEVLLVGLEPGTRYNATVYSQAANGTEGQ
PQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAVIPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVP
VSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPNGTEGASRTVCNRTVPSAVFDIHVVYVTTTEM
WLDWKSPDGASEYVYHLVIESKHGSNHTSTYDKAITLQGLIPGTLYNITISPEVDHVWGDPNSTAQYTRPSNVSNIDVSTNTTAATLSWQNFDDASPTYS
YCLLIEKAGNSSNATQVVTDIGITDATVTELIPGSSYTVEIFAQVGDGIKSLEPGRKSFCTDPASMASFDCEVVPKEPALVLKWTCPPGANAGFELEVSS
GAWNNATHLESCSSENGTEYRTEVTYLNFSTSYNISITTVSCGKMAAPTRNTCTTGITDPPPPDGSPNITSVSHNSVKVKFSGFEASHGPIKAYAVILTT
GEAGHPSADVLKYTYEDFKKGASDTYVTYLIRTEEKGRSQSLSEVLKYEIDVGNESTTLGYYNGKLEPLGSYRACVAGFTNITFHPQNKGLIDGAESYVS
FSRYSDAVSLPQDPGVICGAVFGCIFGALVIVTVGGFIFWRKKRKDAKNNEVSFSQIKSKLIRVENFEAYFKKQQADSNCGFAEEYEDLKLVGISQPKYA
AELAENRGKNRYNNVLPYDISRVKLSVQTHSTDDYINANYMPGYHSKKDFIATQGPLPNTLKDFWRMVWEKNVYAIIMLTKCVEQGRTKCEEYWPSKQAQ
DYGDITVAMTSEIVLPEWTIRDFTVKNIQTSESHPLRQFHFTSWPDHGVPDTTDLLINFRYLVRDYMKQSPPESPILVHCSAGVGRTGTFIAIDRLIYQI
ENENTVDVYGIVYDLRMHRPLMVQTEDQYVFLNQCVLDIVRSQKDSKVDLIYQNTTAMTIYENLAPVTTFGKTNGYIA


SNP Information

Context             (SEQ ID NO:8514):
ATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTC
R
CGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCAC
Celera SNP ID:            hCV25943927
SNP Position Transcript:  1568
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 262, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8515):
ATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTAC
M
ATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCAT
Celera SNP ID:            hCV288149
SNP Position Transcript:  1142
SNP Source:               Applera
Population(Allele,Count): african american(A,32|C,4)   caucasian(A,30|C,10)   total(A,62|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 120, (Q,CAA)   (P,CCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(C,-|A,-)   JBIC-allele(C,273|A,1218)   total(A,1218|C,273)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 120, (Q,CAA)   (P,CCA)      120, (P,CCA)   (Q,CAA)      



Context             (SEQ ID NO:8516):
TACAATGGGAAGCTGGAACCTCTGGGCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGG
Y
TGAGAGCTATGTGTCCTTCAGTCGCTACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCC
Celera SNP ID:            hCV25974290
SNP Position Transcript:  3167
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 795, (A,GCT)   (V,GTT)   



Context             (SEQ ID NO:8517):
AAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATATATATATATATATATATATATATATATATATATATAT
R
CACTA
Celera SNP ID:            hCV11385348
SNP Position Transcript:  5538
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8518):
TCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCAC
Y
GCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTC
Celera SNP ID:            hCV15959195
SNP Position Transcript:  1014
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,22|T,18)   total(C,27|T,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 77, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,569|C,932)   total(C,932|T,569) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 77, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:8519):
TCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGA
R
CCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTC
Celera SNP ID:            hCV15959196
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,2|G,38)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 50, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,268|G,1233)   total(G,1233|A,268) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 50, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:8520):
GTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGACCCCGCTTCCCCTGCCCCCTGTA
S
ATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGAC
Celera SNP ID:            hCV26055515
SNP Position Transcript:  5034
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8521):
TGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCG
R
CCCCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACC
Celera SNP ID:            hCV26055516
SNP Position Transcript:  5010
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8522):
CGCGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGC
R
CACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTTAGCATGGAGCAGCCATGATGCAGAATCATTTCAGATG
Celera SNP ID:            hCV25944049
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 295, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8523):
GCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCC
R
AGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCC
Celera SNP ID:            hCV8895373
SNP Position Transcript:  1292
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,11|G,29)   total(A,24|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 170, (Q,CAA)   (R,CGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 170, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:8524):
AAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGCGACCCACCTGGAGAGCTGCTCCTCTGAGA
R
TGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACTGTGTCCTGTGGAAAGATGGCAGCCCCCACC
Celera SNP ID:            hCV25943542
SNP Position Transcript:  2630
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 616, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8525):
GTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCACACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTT
R
GCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGGGTAGAAATAACCACCAACCAAAGTATTATCA
Celera SNP ID:            hCV11387482
SNP Position Transcript:  1731
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 316, (L,TTA)   (L,TTG)      



Context             (SEQ ID NO:8526):
GATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCCTTCTGCAGATGTCCTGAAATACACGTATGA
S
GATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCTCAGAGCTTGTCTGAAGTTTTGAAATATGAAA
Celera SNP ID:            hCV25943544
SNP Position Transcript:  2931
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,22|G,18)   total(C,24|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 716, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 716, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:8527):
TCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCGAATCGCCGA
Y
TCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGTGGATGTGTAT
Celera SNP ID:            hCV25943717
SNP Position Transcript:  4010
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,32)   total(C,3|T,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 1076, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:8528):
TCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGC
R
CCCGTGACCACATTTGGAAAGACCAATGGTTACATCGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCAC
Celera SNP ID:            hCV25943824
SNP Position Transcript:  4278
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,37)   total(A,8|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 1165, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:8529):
AATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCA
R
TGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTC
Celera SNP ID:            hCV25943549
SNP Position Transcript:  890
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,36)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 36, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8530):
GAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGAC
Y
CCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCA
Celera SNP ID:            hCV28969034
SNP Position Transcript:  5012
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8531):
CACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGAC
R
TCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGG
Celera SNP ID:            hCV15851318
SNP Position Transcript:  1429
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 216, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8532):
CTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACCATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGAT
R
CCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCA
Celera SNP ID:            hCV15851319
SNP Position Transcript:  1192
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1141, 137, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8533):
TGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGTGGAAAACCAGGAAAAGGGA
K
CTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATATATTTTAA
Celera SNP ID:            hCV9497136
SNP Position Transcript:  4608
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8534):
GGGCTGTCGGGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTG
Y
GGAAAACCAGGAAAAGGGAGCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTG
Celera SNP ID:            hCV9497144
SNP Position Transcript:  4588
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1141, None   



Context             (SEQ ID NO:8535):
AAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCGCCCGTGACCACATTTGGAAAGACCAATGGTTACAT
M
GCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTTTTATATGTCTAATA
Celera SNP ID:            hCV25943747
SNP Position Transcript:  4314
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 1177, (I,ATA)   (I,ATC)   



Context             (SEQ ID NO:8536):
GCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGCTGAGAGCTATGTGTCCTTCAGTCG
Y
TACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCT
Celera SNP ID:            hCV25943593
SNP Position Transcript:  3192
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,39|T,1)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1141, 803, (R,CGC)   (R,CGT)   



Gene Number:                 170
Celera Gene:                 hCG23227 - 104000116630266
Celera Transcript:           hCT2268652 - 104000116630267
Public Transcript Accession: NM_002843
Celera Protein:              hCP1861053 - 197000069374187
Public Protein Accession:    NP_002834
Gene Symbol:                 PTPRJ
Protein Name:                protein tyrosine phosphatase, receptor type, J;CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1
Celera Genomic Axis:         GA_x5YUV32VW1T(2676457..2864196)
Chromosome:                  Chr11
OMIM number:                 600925
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J;PTPRJ


Transcript Sequence (SEQ ID NO:445):
GAGCAGCCGCGGGAGCCGGGACCGGGTAGCCGCGCGCTGGGGGTGGGCGCCGCTCGCTCCGCCCCGCGAAGCCCCTGCGCGCTCAGGGACGCGGCCCCCC
CGCGGCAGCCGCGCTAGGCTCCGGCGTGTGGCCGCGGCCGCCGCCGCCGCTGCCATGTCTCCGGGGAAGCCCGGGGCGGGCGGAGCGGGGACGAGGCGGA
CCGGCTGGCGGAGGAGGAGGCGAAGGAGACGGCAGGAGGCGGCGACGACGGTGCCCGGGCTCGGGCGCACGGCGGGGCCCGATTCGCGCGTCCGGGGCAC
GTTCCAGGGCGCGCGGGGCATGAAGCCGGCGGCGCGGGAGGCGCGGCTGCCTCCGCGCTCGCCCGGGCTGCGCTGGGCGCTGCCGCTGCTGCTGCTGCTG
CTGCGCCTGGGCCAGGTAAGCGCCGGGTGGCCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAG
CAGTACAGCAGAATCCTTTCATAAACAGAATGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGT
TTAAGAACACCTGAACAAGGATCTAATGGGACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTT
CCATCAGTCCAACCAATGTGATCTTAACTTGGAAAAGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGAC
AATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCARTGAGACTTGG
GGAGATCCCAGAGTCATAAAAGTCATCACAGARCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCA
ATGGCAATGGCACYGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCT
GAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACMATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATRCCAGCAAT
ACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCRAGACACGG
AAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTT
CAGGACAAATGCTATTCAGGTTTTTGACRTCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCT
AACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTCRCGCTGTCATCCCCGGACTCCGCTCCAGCACCT
TCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCRCACCCCCCCTGTTCCAGTTTCTGACTTCCGAGT
GACAGTGGTCAGCACGACGGAGATCGGCTTRGCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGG
GTAGAAATAACCACCAACCAAAGTATTATCATTGGTGGCTTGTTCCCTGGAACCAAGTATTGCTTTGAAATAGTTCCAAAAGGACCAAATGGGACTGAAG
GGGCATCTCGGACAGTTTGCAATAGAACTGTTCCCAGTGCAGTGTTTGACATCCACGTGGTCTACGTCACCACCACGGAGATGTGGCTGGACTGGAAGAG
CCCTGACGGTGCTTCCGAGTATGTCTACCATTTAGTCATAGAGTCCAAGCATGGCTCTAACCACACAAGCACGTATGACAAAGCGATTACTCTCCAGGGC
CTGATTCCGGGCACCTTATATAACATCACCATCTCTCCAGAAGTGGACCACGTCTGGGGGGACCCCAACTCCACTGCACAGTACACACGGCCCAGCAATG
TGTCCAACATTGATGTAAGTACCAACACCACAGCAGCAACTTTAAGTTGGCAGAACTTTGATGACGCCTCTCCCACGTACTCCTACTGCCTTCTTATTGA
GAAGGCTGGAAATTCCAGCAACGCAACACAAGTAGTCACGGACATTGGAATTACTGACGCTACAGTCACTGAATTAATACCTGGCTCATCATACACAGTG
GAGATCTTTGCACAAGTAGGGGATGGGATCAAGTCACTGGAACCTGGCCGGAAGTCATTCTGTACAGATCCTGCGTCCATGGCCTCCTTCGACTGCGAAG
TGGTCCCCAAAGAGCCAGCCCTGGTTCTCAAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGC
GACCCACCTGGAGAGCTGCTCCTCTGAGARTGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACT
GTGTCCTGTGGAAAGATGGCAGCCCCCACCCGGAACACCTGCACTACTGGCATCACAGATCCCCCTCCTCCAGATGGATCCCCTAATATTACATCTGTCA
GTCACAATTCAGTAAAGGTCAAGTTCAGTGGATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCC
TTCTGCAGATGTCCTGAAATACACGTATGASGATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCT
CAGAGCTTGTCTGAAGTTTTGAAATATGAAATTGACGTTGGGAATGAGTCAACCACACTTGGTTATTACAATGGGAAGCTGGAACCTCTGGGCTCCTACC
GGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGYTGAGAGCTATGTGTCCTTCAGTCGYTACTCAGA
TGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCTTCATCTTC
TGGAGAAAGAAGAGGAAAGATGCAAAGAATAATGAAGTGTCCTTTTCTCAAATTAAGTAAATCTAAGTTAATCAGAGTGGAGAATTTTGAGGCCTACTTC
AAGAAGCAGCAAGCTGACTCCAACTGTGGGTTCGCAGAGGAATACGAAGATCTGAAGCTTGTTGGAATTAGTCAACCTAAATATGCAGCAGAACTGGCTG
AGAATAGAGGAAAGAATCGCTATAATAATGTTCTGCCCTATGATATTTCCCGTGTCAAACTTTCGGTCCAGACCCATTCAACGGATGACTACATCAATGC
CAACTACATGCCTGGCTACCACTCCAAGAAAGATTTTATTGCCACACAAGGACCTTTACCGAACACTTTGAAAGATTTTTGGCGTATGGTTTGGGAGAAA
AATGTATATGCCATCATTATGTTGACTAAATGTGTTGAACAGGGAAGAACCAAATGTGAGGAGTATTGGCCCTCCAAGCAGGCTCAGGACTATGGAGACA
TAACTGTGGCAATGACATCAGAAATTGTTCTTCCGGAATGGACCATCAGAGATTTCACAGTGAAAAATATCCAGACAAGTGAGAGTCACCCTCTGAGACA
GTTCCATTTCACCTCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCT
CCCGAATCGCCGAYTCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACA
CCGTGGATGTGTATGGGATTGTGTATGACCTTCGAATGCATAGGCCTTTAATGGTGCAGACAGAGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGGA
TATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCRCCCGTGACCACATTTGGA
AAGACCAATGGTTACATMGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACAT
GTTTTTATATGTCTAATATCTTAATTCTTTGTTCTGTTTTGTGAGAACTAATTTTGAGGGCATGAAGCTGCATATGATAGATGACAAATTGGGGCTGTCG
GGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGYGGAAAACC
AGGAAAAGGGAKCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTG
AATATATTTTAAGTATCAGAGGTCTATTTTTACCTACTGTGTCTTGGAATCTAGCCGATGGAAAATACCTAATTGTGGATGATGATTGCGCAGGGAGGGG
TACGTGGCACCTCTTCCGAATGGGTTTTCTATTTGAACATGTGCCTTTTCTGAATTATGCTTCCACAGGCAAAACTCAGTAGAGATCTATATTTTTGTAC
TGAATCTCATAATTGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGG
CCTCTTTGCCCCGRCYCCGCTTCCCCTGCCCCCTGTASATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGG
CAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGACTCAAATATCACCTTGAGAATTTCTGTGGGTGGGAATGGGAGAAGCAGAGGAATCCTACAGTG
GCAGAAATCCTTTTCTTGTCCCTGTATTATCCTTTTTCTCATGTCTGTATTTGGTATGAAGGATTATTTAAAGGTGCAATATGTGAATTAGTGATTCATG
ATGTTCTAGGTTTTTAGTAACGTTTTACTCAGGTTGGCATTTTATGTGTCTGTGTCTGTATGTGTGTGTGTATGTTCAGAAGCGTGGCAATCTGTGAACA
CTTCAGCGTGAATTCAGTGTCAGATTAATCCCTCCTTCCCCAAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATA
TATATATATATATATATATATATATATATATATATATATATRCACTA

Protein Sequence    (SEQ ID NO:1142):
MENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPVSDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQ
VNISGLKPGVQYNINPYLLPSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVGPVDPSSGQQSQDTEVLLVGLEPGTRYNATVYSQAANGTEGQ
PQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAVIPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVP
VSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPNGTEGASRTVCNRTVPSAVFDIHVVYVTTTEM
WLDWKSPDGASEYVYHLVIESKHGSNHTSTYDKAITLQGLIPGTLYNITISPEVDHVWGDPNSTAQYTRPSNVSNIDVSTNTTAATLSWQNFDDASPTYS
YCLLIEKAGNSSNATQVVTDIGITDATVTELIPGSSYTVEIFAQVGDGIKSLEPGRKSFCTDPASMASFDCEVVPKEPALVLKWTCPPGANAGFELEVSS
GAWNNATHLESCSSENGTEYRTEVTYLNFSTSYNISITTVSCGKMAAPTRNTCTTGITDPPPPDGSPNITSVSHNSVKVKFSGFEASHGPIKAYAVILTT
GEAGHPSADVLKYTYEDFKKGASDTYVTYLIRTEEKGRSQSLSEVLKYEIDVGNESTTLGYYNGKLEPLGSYRACVAGFTNITFHPQNKGLIDGAESYVS
FSRYSDAVSLPQDPGVICGAVFGCIFGALVIVTVGGFIFWRKKRKDAKNNEVSFSQIK


SNP Information

Context             (SEQ ID NO:8537):
ATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTC
R
CGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCAC
Celera SNP ID:            hCV25943927
SNP Position Transcript:  1568
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 262, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8538):
ATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTAC
M
ATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCAT
Celera SNP ID:            hCV288149
SNP Position Transcript:  1142
SNP Source:               Applera
Population(Allele,Count): african american(A,32|C,4)   caucasian(A,30|C,10)   total(A,62|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 120, (Q,CAA)   (P,CCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(C,-|A,-)   JBIC-allele(C,273|A,1218)   total(A,1218|C,273)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 120, (Q,CAA)   (P,CCA)      120, (P,CCA)   (Q,CAA)      



Context             (SEQ ID NO:8539):
TACAATGGGAAGCTGGAACCTCTGGGCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGG
Y
TGAGAGCTATGTGTCCTTCAGTCGCTACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCC
Celera SNP ID:            hCV25974290
SNP Position Transcript:  3167
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 795, (A,GCT)   (V,GTT)   



Context             (SEQ ID NO:8540):
AAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATATATATATATATATATATATATATATATATATATATAT
R
CACTA
Celera SNP ID:            hCV11385348
SNP Position Transcript:  5542
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8541):
TCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCAC
Y
GCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTC
Celera SNP ID:            hCV15959195
SNP Position Transcript:  1014
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,22|T,18)   total(C,27|T,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 77, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,569|C,932)   total(C,932|T,569) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 77, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:8542):
TCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGA
R
CCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTC
Celera SNP ID:            hCV15959196
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,2|G,38)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 50, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,268|G,1233)   total(G,1233|A,268) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 50, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:8543):
GTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGACCCCGCTTCCCCTGCCCCCTGTA
S
ATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGAC
Celera SNP ID:            hCV26055515
SNP Position Transcript:  5038
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8544):
TGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCG
R
CCCCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACC
Celera SNP ID:            hCV26055516
SNP Position Transcript:  5014
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8545):
CGCGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGC
R
CACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTTAGCATGGAGCAGCCATGATGCAGAATCATTTCAGATG
Celera SNP ID:            hCV25944049
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 295, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8546):
GCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCC
R
AGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCC
Celera SNP ID:            hCV8895373
SNP Position Transcript:  1292
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,11|G,29)   total(A,24|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 170, (Q,CAA)   (R,CGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 170, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:8547):
AAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGCGACCCACCTGGAGAGCTGCTCCTCTGAGA
R
TGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACTGTGTCCTGTGGAAAGATGGCAGCCCCCACC
Celera SNP ID:            hCV25943542
SNP Position Transcript:  2630
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 616, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8548):
GTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCACACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTT
R
GCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGGGTAGAAATAACCACCAACCAAAGTATTATCA
Celera SNP ID:            hCV11387482
SNP Position Transcript:  1731
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 316, (L,TTA)   (L,TTG)      



Context             (SEQ ID NO:8549):
GATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCCTTCTGCAGATGTCCTGAAATACACGTATGA
S
GATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCTCAGAGCTTGTCTGAAGTTTTGAAATATGAAA
Celera SNP ID:            hCV25943544
SNP Position Transcript:  2931
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,22|G,18)   total(C,24|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 716, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 716, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:8550):
TCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCGAATCGCCGA
Y
TCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGTGGATGTGTAT
Celera SNP ID:            hCV25943717
SNP Position Transcript:  4014
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,32)   total(C,3|T,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None



Context             (SEQ ID NO:8551):
AATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCA
R
TGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTC
Celera SNP ID:            hCV25943549
SNP Position Transcript:  890
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,36)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 36, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8552):
TCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGC
R
CCCGTGACCACATTTGGAAAGACCAATGGTTACATCGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCAC
Celera SNP ID:            hCV25943824
SNP Position Transcript:  4282
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,37)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None



Context             (SEQ ID NO:8553):
GAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGAC
Y
CCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCA
Celera SNP ID:            hCV28969034
SNP Position Transcript:  5016
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8554):
CACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGAC
R
TCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGG
Celera SNP ID:            hCV15851318
SNP Position Transcript:  1429
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 216, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8555):
GGGCTGTCGGGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTG
Y
GGAAAACCAGGAAAAGGGAGCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTG
Celera SNP ID:            hCV9497144
SNP Position Transcript:  4592
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8556):
TGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGTGGAAAACCAGGAAAAGGGA
K
CTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATATATTTTAA
Celera SNP ID:            hCV9497136
SNP Position Transcript:  4612
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None   



Context             (SEQ ID NO:8557):
CTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACCATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGAT
R
CCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCA
Celera SNP ID:            hCV15851319
SNP Position Transcript:  1192
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1142, 137, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8558):
AAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCGCCCGTGACCACATTTGGAAAGACCAATGGTTACAT
M
GCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTTTTATATGTCTAATA
Celera SNP ID:            hCV25943747
SNP Position Transcript:  4318
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1142, None



Context             (SEQ ID NO:8559):
GCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGCTGAGAGCTATGTGTCCTTCAGTCG
Y
TACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCT
Celera SNP ID:            hCV25943593
SNP Position Transcript:  3192
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,39|T,1)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1142, 803, (R,CGC)   (R,CGT)   



Gene Number:                 170
Celera Gene:                 hCG23227 - 104000116630266
Celera Transcript:           hCT2268650 - 104000116630374
Public Transcript Accession: NM_002843
Celera Protein:              hCP1861057 - 197000069374191
Public Protein Accession:    NP_002834
Gene Symbol:                 PTPRJ
Protein Name:                protein tyrosine phosphatase, receptor type, J;CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1
Celera Genomic Axis:         GA_x5YUV32VW1T(2674206..2679434)
Chromosome:                  Chr11
OMIM number:                 600925
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J;PTPRJ


Transcript Sequence (SEQ ID NO:446):
ATGCCTGGGTACATTGCRTGCTCTGGGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTA
TCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCRCCCGTGACCACATTTGGAAAGACCAATGAAAAGCAGCTGGTATGGGTTTGGGTGTC
AATGAAAGGGCCAAAGACTGGTGGCCAGCTGGTTTGGGGGATTTGGGCCATTGATAGCATCTCCCAGGAACAACGACTTTTTGCCTCCAAAGTTGGATCT
AGTGATGATCAGCACCAGCAGGAAATGACATTTGGTGTCTGCCCACTGCAGCCATACTGTGACCTCCAGCCAGACTTCCGCCTAATTGACTCCACTGGAT
TTGTGCTCTGTTGAGTCAGAGGCTCCCGGGGGTTGGGGATCGAGGGGCGGGGGTCAGCTATGCAGCCCATCACGTGTGTTTTTCATCTGGGATGAAAAAG
CCTGGTTCTCTTTTGAAATGCTTGATTGTACTTATTGAGCTAAACAAGTCTTGGTGACTGTTGTTGATTTGCCTCAAAAGTTTTAAGTCCTGGGTTTTCA
GACTACTGTGTAGCAGCTGTGTGTTTAACATACTGTAGCTTTTTCTCCCTTGGGGGCACATACAAATAGGATGTGTTGATGTGGACTCTAAACTGTAATT
TTCCTGTAACTATTTTGGAATGATGCATATTTCTAATGTTTGTTATACTTGTACAGAGTATTGCTGTTGGTTGCTTTTTTTTTTTTTTAAGGAAAAAATG
GCCTGAAAACATTTTTTTAAAGACTTACAAATACCAAATATAAAAAAATGTCAATGC

Protein Sequence    (SEQ ID NO:1143):
MPGYIACSGDQYVFLNQCVLDIVRSQKDSKVDLIYQNTTAMTIYENLAPVTTFGKTNEKQLVWVWVSMKGPKTGGQLVWGIWAIDSISQEQRLFASKVGS
SDDQHQQEMTFGVCPLQPYCDLQPDFRLIDSTGFVLC


SNP Information

Context             (SEQ ID NO:8560):
TCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGC
R
CCCGTGACCACATTTGGAAAGACCAATGAAAAGCAGCTGGTATGGGTTTGGGTGTCAATGAAAGGGCCAAAGACTGGTGGCCAGCTGGTTTGGGGGATTT
Celera SNP ID:            hCV25943824
SNP Position Transcript:  144
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,37)   total(A,8|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1143, 48, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:8561):
ATGCCTGGGTACATTGC
R
TGCTCTGGGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTG
Celera SNP ID:            hCV461186
SNP Position Transcript:  18
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,3)   total(G,3|A,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1143, 6, (A,GCA)   (A,GCG)      



Gene Number:                 170
Celera Gene:                 hCG23227 - 104000116630266
Celera Transcript:           hCT14332 - 104000116630294
Public Transcript Accession: NM_002843
Celera Protein:              hCP40767 - 197000069374188
Public Protein Accession:    NP_002834
Gene Symbol:                 PTPRJ
Protein Name:                protein tyrosine phosphatase, receptor type, J;CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1
Celera Genomic Axis:         GA_x5YUV32VW1T(2676457..2732357)
Chromosome:                  Chr11
OMIM number:                 600925
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J;PTPRJ


Transcript Sequence (SEQ ID NO:447):
CCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAGCAGTACAGCAGAATCCTTTCATAAACAGAA
TGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGTTTAAGAACACCTGAACAAGGATCTAATGGG
ACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTTCCATCAGTCCAACCAATGTGATCTTAACTT
GGAAAAGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAA
CATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCARTGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACA
GARCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACYGCCTCCTGCCGGGTTC
TTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCC
GTATCTTCTACMATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATRCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACC
GCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCRAGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCA
CCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGACRT
CACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGGG
GAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTCRCGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAG
GTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCRCACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTT
RGCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGGGTAGAAATAACCACCAACCAAAGTATTATC
ATTGGTGGCTTGTTCCCTGGAACCAAGTATTGCTTTGAAATAGTTCCAAAAGGACCAAATGGGACTGAAGGGGCATCTCGGACAGTTTGCAATAGAACTG
TTCCCAGTGCAGTGTTTGACATCCACGTGGTCTACGTCACCACCACGGAGATGTGGCTGGACTGGAAGAGCCCTGACGGTGCTTCCGAGTATGTCTACCA
TTTAGTCATAGAGTCCAAGCATGGCTCTAACCACACAAGCACGTATGACAAAGCGATTACTCTCCAGGGCCTGATTCCGGGCACCTTATATAACATCACC
ATCTCTCCAGAAGTGGACCACGTCTGGGGGGACCCCAACTCCACTGCACAGTACACACGGCCCAGCAATGTGTCCAACATTGATGTAAGTACCAACACCA
CAGCAGCAACTTTAAGTTGGCAGAACTTTGATGACGCCTCTCCCACGTACTCCTACTGCCTTCTTATTGAGAAGGCTGGAAATTCCAGCAACGCAACACA
AGTAGTCACGGACATTGGAATTACTGACGCTACAGTCACTGAATTAATACCTGGCTCATCATACACAGTGGAGATCTTTGCACAAGTAGGGGATGGGATC
AAGTCACTGGAACCTGGCCGGAAGTCATTCTGTACAGATCCTGCGTCCATGGCCTCCTTCGACTGCGAAGTGGTCCCCAAAGAGCCAGCCCTGGTTCTCA
AATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGCGACCCACCTGGAGAGCTGCTCCTCTGAGAR
TGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACTGTGTCCTGTGGAAAGATGGCAGCCCCCACC
CGGAACACCTGCACTACTGGCATCACAGATCCCCCTCCTCCAGATGGATCCCCTAATATTACATCTGTCAGTCACAATTCAGTAAAGGTCAAGTTCAGTG
GATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCCTTCTGCAGATGTCCTGAAATACACGTATGA
SGATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCTCAGAGCTTGTCTGAAGTTTTGAAATATGAA
ATTGACGTTGGGAATGAGTCAACCACACTTGGTTATTACAATGGGAAGCTGGAACCTCTGGGCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTA
CCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGYTGAGAGCTATGTGTCCTTCAGTCGYTACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGT
CATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCTTCATCTTCTGGAGAAAGAAGAGGAAAGATGCAAAGAAT
AATGAAGTGTCCTTTTCTCAAATTAAGTAAATCTAAGTTAATCAGAGTGGAGAATTTTGAGGCCTACTTCAAGAAGCAGCAAGCTGACTCCAACTGTGGG
TTCGCAGAGGAATACGAAGATCTGAAGCTTGTTGGAATTAGTCAACCTAAATATGCAGCAGAACTGGCTGAGAATAGAGGAAAGAATCGCTATAATAATG
TTCTGCCCTATGATATTTCCCGTGTCAAACTTTCGGTCCAGACCCATTCAACGGATGACTACATCAATGCCAACTACATGCCTGGCTACCACTCCAAGAA
AGATTTTATTGCCACACAAGGACCTTTACCGAACACTTTGAAAGATTTTTGGCGTATGGTTTGGGAGAAAAATGTATATGCCATCATTATGTTGACTAAA
TGTGTTGAACAGGGAAGAACCAAATGTGAGGAGTATTGGCCCTCCAAGCAGGCTCAGGACTATGGAGACATAACTGTGGCAATGACATCAGAAATTGTTC
TTCCGGAATGGACCATCAGAGATTTCACAGTGAAAAATATCCAGACAAGTGAGAGTCACCCTCTGAGACAGTTCCATTTCACCTCCTGGCCAGACCACGG
TGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCGAATCGCCGAYTCTGGTGCATTGCAGT
GCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGTGGATGTGTATGGGATTGTGTATGACC
TTCGAATGCATAGGCCTTTAATGGTGCAGACAGAGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGT
AGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCRCCCGTGACCACATTTGGAAAGACCAATGGTTACATMGCCTAATTCCAA
AGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTTTTATATGTCTAATATCTTAATTCTTT
GTTCTGTTTTGTGAGAACTAATTTTGAGGGCATGAAGCTGCATATGATAGATGACAAATTGGGGCTGTCGGGGGCTGTGGATGGGTGGGGAGCAAATCAT
CTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGYGGAAAACCAGGAAAAGGGAKCTATGATTTTTTTTTCCA
AAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATATATTTTAAGTATCAGAGGTCTATTTT
TACCTACTGTGTCTTGGAATCTAGCCGATGGAAAATACCTAATTGTGGATGATGATTGCGCAGGGAGGGGTACGTGGCACCTCTTCCGAATGGGTTTTCT
ATTTGAACATGTGCCTTTTCTGAATTATGCTTCCACAGGCAAAACTCAGTAGAGATCTATATTTTTGTACTGAATCTCATAATTGGAATATACGGAATAT
TTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGRCYCCGCTTCCCCTGCC
CCCTGTASATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCATTGGTTGGGTGAGA
ATGGCGACTCAAATATCACCTTGAGAATTTCTGTGGGTGGGAATGGGAGAAGCAGAGGAATCCTACAGTGGCAGAAATCCTTTTCTTGTCCCTGTATTAT
CCTTTTTCTCATGTCTGTATTTGGTATGAAGGATTATTTAAAGGTGCAATATGTGAATTAGTGATTCATGATGTTCTAGGTTTTTAGTAACGTTTTACTC
AGGTTGGCATTTTATGTGTCTGTGTCTGTATGTGTGTGTGTATGTTCAGAAGCGTGGCAATCTGTGAACACTTCAGCGTGAATTCAGTGTCAGATTAATC
CCTCCTTCCCCAAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATATATATATATATATATATATATATATA
TATATATATATRCACTA

Protein Sequence    (SEQ ID NO:1144):
MENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPVSDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQ
VNISGLKPGVQYNINPYLLPSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVGPVDPSSGQQSQDTEVLLVGLEPGTRYNATVYSQAANGTEGQ
PQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAVIPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVP
VSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPNGTEGASRTVCNRTVPSAVFDIHVVYVTTTEM
WLDWKSPDGASEYVYHLVIESKHGSNHTSTYDKAITLQGLIPGTLYNITISPEVDHVWGDPNSTAQYTRPSNVSNIDVSTNTTAATLSWQNFDDASPTYS
YCLLIEKAGNSSNATQVVTDIGITDATVTELIPGSSYTVEIFAQVGDGIKSLEPGRKSFCTDPASMASFDCEVVPKEPALVLKWTCPPGANAGFELEVSS
GAWNNATHLESCSSENGTEYRTEVTYLNFSTSYNISITTVSCGKMAAPTRNTCTTGITDPPPPDGSPNITSVSHNSVKVKFSGFEASHGPIKAYAVILTT
GEAGHPSADVLKYTYEDFKKGASDTYVTYLIRTEEKGRSQSLSEVLKYEIDVGNESTTLGYYNGKLEPLGSYRACVAGFTNITFHPQNKGLIDGAESYVS
FSRYSDAVSLPQDPGVICGAVFGCIFGALVIVTVGGFIFWRKKRKDAKNNEVSFSQIK


SNP Information

Context             (SEQ ID NO:8562):
ATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTC
R
CGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCAC
Celera SNP ID:            hCV25943927
SNP Position Transcript:  1138
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 262, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8563):
ATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTAC
M
ATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCAT
Celera SNP ID:            hCV288149
SNP Position Transcript:  712
SNP Source:               Applera
Population(Allele,Count): african american(A,32|C,4)   caucasian(A,30|C,10)   total(A,62|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 120, (Q,CAA)   (P,CCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(C,-|A,-)   JBIC-allele(C,273|A,1218)   total(A,1218|C,273)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 120, (Q,CAA)   (P,CCA)      120, (P,CCA)   (Q,CAA)      



Context             (SEQ ID NO:8564):
TACAATGGGAAGCTGGAACCTCTGGGCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGG
Y
TGAGAGCTATGTGTCCTTCAGTCGCTACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCC
Celera SNP ID:            hCV25974290
SNP Position Transcript:  2737
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 795, (A,GCT)   (V,GTT)   



Context             (SEQ ID NO:8565):
AAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATATATATATATATATATATATATATATATATATATATAT
R
CACTA
Celera SNP ID:            hCV11385348
SNP Position Transcript:  5112
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8566):
TCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCAC
Y
GCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTC
Celera SNP ID:            hCV15959195
SNP Position Transcript:  584
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,22|T,18)   total(C,27|T,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 77, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,569|C,932)   total(C,932|T,569) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 77, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:8567):
TCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGA
R
CCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTC
Celera SNP ID:            hCV15959196
SNP Position Transcript:  503
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,2|G,38)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 50, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,268|G,1233)   total(G,1233|A,268) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 50, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:8568):
GTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGACCCCGCTTCCCCTGCCCCCTGTA
S
ATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGAC
Celera SNP ID:            hCV26055515
SNP Position Transcript:  4608
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8569):
TGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCG
R
CCCCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACC
Celera SNP ID:            hCV26055516
SNP Position Transcript:  4584
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8570):
CGCGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGC
R
CACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTTAGCATGGAGCAGCCATGATGCAGAATCATTTCAGATG
Celera SNP ID:            hCV25944049
SNP Position Transcript:  1237
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 295, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8571):
GCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCC
R
AGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCC
Celera SNP ID:            hCV8895373
SNP Position Transcript:  862
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,11|G,29)   total(A,24|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 170, (Q,CAA)   (R,CGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 170, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:8572):
AAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGCGACCCACCTGGAGAGCTGCTCCTCTGAGA
R
TGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACTGTGTCCTGTGGAAAGATGGCAGCCCCCACC
Celera SNP ID:            hCV25943542
SNP Position Transcript:  2200
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 616, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8573):
GTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCACACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTT
R
GCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGGGTAGAAATAACCACCAACCAAAGTATTATCA
Celera SNP ID:            hCV11387482
SNP Position Transcript:  1301
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 316, (L,TTA)   (L,TTG)      



Context             (SEQ ID NO:8574):
GATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCCTTCTGCAGATGTCCTGAAATACACGTATGA
S
GATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCTCAGAGCTTGTCTGAAGTTTTGAAATATGAAA
Celera SNP ID:            hCV25943544
SNP Position Transcript:  2501
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,22|G,18)   total(C,24|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 716, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 716, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:8575):
TCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCGAATCGCCGA
Y
TCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGTGGATGTGTAT
Celera SNP ID:            hCV25943717
SNP Position Transcript:  3584
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,32)   total(C,3|T,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None



Context             (SEQ ID NO:8576):
AATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCA
R
TGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTC
Celera SNP ID:            hCV25943549
SNP Position Transcript:  460
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,36)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 36, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8577):
TCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGC
R
CCCGTGACCACATTTGGAAAGACCAATGGTTACATCGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCAC
Celera SNP ID:            hCV25943824
SNP Position Transcript:  3852
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,37)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None



Context             (SEQ ID NO:8578):
GAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGAC
Y
CCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCA
Celera SNP ID:            hCV28969034
SNP Position Transcript:  4586
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8579):
CACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGAC
R
TCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGG
Celera SNP ID:            hCV15851318
SNP Position Transcript:  999
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 216, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8580):
GGGCTGTCGGGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTG
Y
GGAAAACCAGGAAAAGGGAGCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTG
Celera SNP ID:            hCV9497144
SNP Position Transcript:  4162
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8581):
TGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGTGGAAAACCAGGAAAAGGGA
K
CTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATATATTTTAA
Celera SNP ID:            hCV9497136
SNP Position Transcript:  4182
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None   



Context             (SEQ ID NO:8582):
CTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACCATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGAT
R
CCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCA
Celera SNP ID:            hCV15851319
SNP Position Transcript:  762
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1144, 137, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8583):
AAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCGCCCGTGACCACATTTGGAAAGACCAATGGTTACAT
M
GCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTTTTATATGTCTAATA
Celera SNP ID:            hCV25943747
SNP Position Transcript:  3888
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1144, None



Context             (SEQ ID NO:8584):
GCTCCTACCGGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGCTGAGAGCTATGTGTCCTTCAGTCG
Y
TACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCT
Celera SNP ID:            hCV25943593
SNP Position Transcript:  2762
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,39|T,1)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1144, 803, (R,CGC)   (R,CGT)   



Gene Number:                 170
Celera Gene:                 hCG23227 - 104000116630266
Celera Transcript:           hCT2268655 - 104000116630320
Public Transcript Accession: NM_002843
Celera Protein:              hCP1861055 - 197000069374189
Public Protein Accession:    NP_002834
Gene Symbol:                 PTPRJ
Protein Name:                protein tyrosine phosphatase, receptor type, J;CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1
Celera Genomic Axis:         GA_x5YUV32VW1T(2676457..2864196)
Chromosome:                  Chr11
OMIM number:                 600925
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J;PTPRJ


Transcript Sequence (SEQ ID NO:448):
GAGCAGCCGCGGGAGCCGGGACCGGGTAGCCGCGCGCTGGGGGTGGGCGCCGCTCGCTCCGCCCCGCGAAGCCCCTGCGCGCTCAGGGACGCGGCCCCCC
CGCGGCAGCCGCGCTAGGCTCCGGCGTGTGGCCGCGGCCGCCGCCGCCGCTGCCATGTCTCCGGGGAAGCCCGGGGCGGGCGGAGCGGGGACGAGGCGGA
CCGGCTGGCGGAGGAGGAGGCGAAGGAGACGGCAGGAGGCGGCGACGACGGTGCCCGGGCTCGGGCGCACGGCGGGGCCCGATTCGCGCGTCCGGGGCAC
GTTCCAGGGCGCGCGGGGCATGAAGCCGGCGGCGCGGGAGGCGCGGCTGCCTCCGCGCTCGCCCGGGCTGCGCTGGGCGCTGCCGCTGCTGCTGCTGCTG
CTGCGCCTGGGCCAGGTAAGCGCCGGGTGGCCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAG
CAGTACAGCAGAATCCTTTCATAAACAGAATGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGT
TTAAGAACACCTGAACAAGGATCTAATGGGACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTT
CCATCAGTCCAACCAATGTGATCTTAACTTGGAAAAGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGAC
AATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCARTGAGACTTGG
GGAGATCCCAGAGTCATAAAAGTCATCACAGARCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCA
ATGGCAATGGCACYGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCT
GAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACMATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATRCCAGCAAT
ACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCRAGACACGG
AAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTT
CAGGACAAATGCTATTCAGGTTTTTGACRTCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCT
AACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTCRCGCTGTCATCCCCGGACTCCGCTCCAGCACCT
TCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCRCACCCCCCCTGTTCCAGTTTCTGACTTCCGAGT
GACAGTGGTCAGCACGACGGAGATCGGCTTRGCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGG
GTAGAAATAACCACCAACCAAAGTATTATCATTGGTGGCTTGTTCCCTGGAACCAAGTATTGCTTTGAAATAGTTCCAAAAGGACCAAATGGGACTGAAG
GGGCATCTCGGACAGTTTGCAATAGAACTGTTCCCAGTGCAGTGTTTGACATCCACGTGGTCTACGTCACCACCACGGAGATGTGGCTGGACTGGAAGAG
CCCTGACGGTGCTTCCGAGTATGTCTACCATTTAGTCATAGAGTCCAAGCATGGCTCTAACCACACAAGCACGTATGACAAAGCGATTACTCTCCAGGGC
CTGATTCCGGGCACCTTATATAACATCACCATCTCTCCAGAAGTGGACCACGTCTGGGGGGACCCCAACTCCACTGCACAGTACACACGGCCCAGCAATG
TGTCCAACATTGATGTAAGTACCAACACCACAGCAGCAACTTTAAGTTGGCAGAACTTTGATGACGCCTCTCCCACGTACTCCTACTGCCTTCTTATTGA
GAAGGCTGGAAATTCCAGCAACGCAACACAAGTAGTCACGGACATTGGAATTACTGACGCTACAGTCACTGAATTAATACCTGGCTCATCATACACAGTG
GAGATCTTTGCACAAGTAGGGGATGGGATCAAGTCACTGGAACCTGGCCGGAAGTCATTCTGTACAGATCCTGCGTCCATGGCCTCCTTCGACTGCGAAG
TGGTCCCCAAAGAGCCAGCCCTGGTTCTCAAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGC
GACCCACCTGGAGAGCTGCTCCTCTGAGARTGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACT
GTGTCCTGTGGAAAGATGGCAGCCCCCACCCGGAACACCTGCACTACTGGCATCACAGATCCCCCTCCTCCAGATGGATCCCCTAATATTACATCTGTCA
GTCACAATTCAGTAAAGGTCAAGTTCAGTGGATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCC
TTCTGCAGATGTCCTGAAATACACGTATGASGATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCT
CAGAGCTTGTCTGAAGTTTTGAAATATGAAATTGACGTTGGGAATGAGTCAACCACACTTGGTTATTACAATGGGAAGCTGGAACCTCTGGGCTCCTACC
GGTAATGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGYTGAGAGCTATGTGTCCTTCAGTCGYTAC
TCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCTTCA
TCTTCTGGAGAAAGAAGAGGAAAGATGCAAAGAATAATGAAGTGTCCTTTTCTCAAATTAAATCTAAGTTAATCAGAGTGGAGAATTTTGAGGCCTACTT
CAAGAAGCAGCAAGCTGACTCCAACTGTGGGTTCGCAGAGGAATACGAAGATCTGAAGCTTGTTGGAATTAGTCAACCTAAATATGCAGCAGAACTGGCT
GAGAATAGAGGAAAGAATCGCTATAATAATGTTCTGCCCTATGATATTTCCCGTGTCAAACTTTCGGTCCAGACCCATTCAACGGATGACTACATCAATG
CCAACTACATGCCTGGCTACCACTCCAAGAAAGATTTTATTGCCACACAAGGACCTTTACCGAACACTTTGAAAGATTTTTGGCGTATGGTTTGGGAGAA
AAATGTATATGCCATCATTATGTTGACTAAATGTGTTGAACAGGGAAGAACCAAATGTGAGGAGTATTGGCCCTCCAAGCAGGCTCAGGACTATGGAGAC
ATAACTGTGGCAATGACATCAGAAATTGTTCTTCCGGAATGGACCATCAGAGATTTCACAGTGAAAAATATCCAGACAAGTGAGAGTCACCCTCTGAGAC
AGTTCCATTTCACCTCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCC
TCCCGAATCGCCGAYTCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAAC
ACCGTGGATGTGTATGGGATTGTGTATGACCTTCGAATGCATAGGCCTTTAATGGTGCAGACAGAGGACCAGTATGTTTTCCTCAATCAGTGTGTTTTGG
ATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCRCCCGTGACCACATTTGG
AAAGACCAATGGTTACATMGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACA
TGTTTTTATATGTCTAATATCTTAATTCTTTGTTCTGTTTTGTGAGAACTAATTTTGAGGGCATGAAGCTGCATATGATAGATGACAAATTGGGGCTGTC
GGGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGYGGAAAAC
CAGGAAAAGGGAKCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTT
GAATATATTTTAAGTATCAGAGGTCTATTTTTACCTACTGTGTCTTGGAATCTAGCCGATGGAAAATACCTAATTGTGGATGATGATTGCGCAGGGAGGG
GTACGTGGCACCTCTTCCGAATGGGTTTTCTATTTGAACATGTGCCTTTTCTGAATTATGCTTCCACAGGCAAAACTCAGTAGAGATCTATATTTTTGTA
CTGAATCTCATAATTGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAG
GCCTCTTTGCCCCGRCYCCGCTTCCCCTGCCCCCTGTASATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTG
GCAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGACTCAAATATCACCTTGAGAATTTCTGTGGGTGGGAATGGGAGAAGCAGAGGAATCCTACAGT
GGCAGAAATCCTTTTCTTGTCCCTGTATTATCCTTTTTCTCATGTCTGTATTTGGTATGAAGGATTATTTAAAGGTGCAATATGTGAATTAGTGATTCAT
GATGTTCTAGGTTTTTAGTAACGTTTTACTCAGGTTGGCATTTTATGTGTCTGTGTCTGTATGTGTGTGTGTATGTTCAGAAGCGTGGCAATCTGTGAAC
ACTTCAGCGTGAATTCAGTGTCAGATTAATCCCTCCTTCCCCAAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATAT
ATATATATATATATATATATATATATATATATATATATATATRCACTA

Protein Sequence    (SEQ ID NO:1145):
MENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPVSDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQ
VNISGLKPGVQYNINPYLLPSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVGPVDPSSGQQSQDTEVLLVGLEPGTRYNATVYSQAANGTEGQ
PQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAVIPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVP
VSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPNGTEGASRTVCNRTVPSAVFDIHVVYVTTTEM
WLDWKSPDGASEYVYHLVIESKHGSNHTSTYDKAITLQGLIPGTLYNITISPEVDHVWGDPNSTAQYTRPSNVSNIDVSTNTTAATLSWQNFDDASPTYS
YCLLIEKAGNSSNATQVVTDIGITDATVTELIPGSSYTVEIFAQVGDGIKSLEPGRKSFCTDPASMASFDCEVVPKEPALVLKWTCPPGANAGFELEVSS
GAWNNATHLESCSSENGTEYRTEVTYLNFSTSYNISITTVSCGKMAAPTRNTCTTGITDPPPPDGSPNITSVSHNSVKVKFSGFEASHGPIKAYAVILTT
GEAGHPSADVLKYTYEDFKKGASDTYVTYLIRTEEKGRSQSLSEVLKYEIDVGNESTTLGYYNGKLEPLGSYR


SNP Information

Context             (SEQ ID NO:8585):
ATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGGGGAGACAGATTCTTCCAATCTCAACGTCAGTGAGCCTC
R
CGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCAC
Celera SNP ID:            hCV25943927
SNP Position Transcript:  1568
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 262, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8586):
ATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTAC
M
ATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCAT
Celera SNP ID:            hCV288149
SNP Position Transcript:  1142
SNP Source:               Applera
Population(Allele,Count): african american(A,32|C,4)   caucasian(A,30|C,10)   total(A,62|C,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 120, (Q,CAA)   (P,CCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|C,4)      total(A,4|C,4) ;no_pop(C,-|A,-)   JBIC-allele(C,273|A,1218)   total(A,1218|C,273)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 120, (Q,CAA)   (P,CCA)      120, (P,CCA)   (Q,CAA)      



Context             (SEQ ID NO:8587):
TGGGAAGCTGGAACCTCTGGGCTCCTACCGGTAATGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGG
Y
TGAGAGCTATGTGTCCTTCAGTCGCTACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCC
Celera SNP ID:            hCV25974290
SNP Position Transcript:  3172
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None



Context             (SEQ ID NO:8588):
AAAGTCCACTGGCTTTCGTCTCTCTCTGCCGTGACACATATCGGAATCTACTGTATATATATATATATATATATATATATATATATATATATATATATAT
R
CACTA
Celera SNP ID:            hCV11385348
SNP Position Transcript:  5543
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8589):
TCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCAC
Y
GCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTC
Celera SNP ID:            hCV15959195
SNP Position Transcript:  1014
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,22|T,18)   total(C,27|T,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1145, 77, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,569|C,932)   total(C,932|T,569) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1145, 77, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:8590):
TCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGA
R
CCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTC
Celera SNP ID:            hCV15959196
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,2|G,38)   total(A,7|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1145, 50, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,268|G,1233)   total(G,1233|A,268) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1145, 50, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:8591):
GTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGACCCCGCTTCCCCTGCCCCCTGTA
S
ATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCATTGGTTGGGTGAGAATGGCGAC
Celera SNP ID:            hCV26055515
SNP Position Transcript:  5039
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8592):
TGGAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCG
R
CCCCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACC
Celera SNP ID:            hCV26055516
SNP Position Transcript:  5015
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8593):
CGCGCTGTCATCCCCGGACTCCGCTCCAGCACCTTCTACAACATCACAGTGTGTCCTGTCCTAGGTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGC
R
CACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTTAGCATGGAGCAGCCATGATGCAGAATCATTTCAGATG
Celera SNP ID:            hCV25944049
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,38)   total(A,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 295, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:8594):
GCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCC
R
AGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCC
Celera SNP ID:            hCV8895373
SNP Position Transcript:  1292
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,25)   caucasian(A,11|G,29)   total(A,24|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 170, (Q,CAA)   (R,CGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 170, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:8595):
AAATGGACCTGCCCTCCTGGCGCCAATGCAGGCTTTGAGCTGGAGGTCAGCAGTGGAGCCTGGAACAATGCGACCCACCTGGAGAGCTGCTCCTCTGAGA
R
TGGCACTGAGTATAGAACGGAAGTCACGTATTTGAATTTTTCTACCTCGTACAACATCAGCATCACCACTGTGTCCTGTGGAAAGATGGCAGCCCCCACC
Celera SNP ID:            hCV25943542
SNP Position Transcript:  2630
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 616, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8596):
GTGACATCGAGGGCACGCCGGGCTTCCTCCAAGTGCACACCCCCCCTGTTCCAGTTTCTGACTTCCGAGTGACAGTGGTCAGCACGACGGAGATCGGCTT
R
GCATGGAGCAGCCATGATGCAGAATCATTTCAGATGCATATCACACAGGAGGGAGCTGGCAATTCTCGGGTAGAAATAACCACCAACCAAAGTATTATCA
Celera SNP ID:            hCV11387482
SNP Position Transcript:  1731
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1145, 316, (L,TTA)   (L,TTG)      



Context             (SEQ ID NO:8597):
GATTTGAAGCCAGCCACGGACCCATCAAAGCCTATGCTGTCATTCTCACCACCGGGGAAGCTGGTCACCCTTCTGCAGATGTCCTGAAATACACGTATGA
S
GATTTCAAAAAGGGAGCCTCAGATACTTATGTGACATACCTCATAAGAACAGAAGAAAAGGGACGTTCTCAGAGCTTGTCTGAAGTTTTGAAATATGAAA
Celera SNP ID:            hCV25943544
SNP Position Transcript:  2931
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,32)   caucasian(C,22|G,18)   total(C,24|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 716, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 716, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:8598):
TCCTGGCCAGACCACGGTGTTCCCGACACCACTGACCTGCTCATCAACTTCCGGTACCTCGTTCGTGACTACATGAAGCAGAGTCCTCCCGAATCGCCGA
Y
TCTGGTGCATTGCAGTGCTGGGGTCGGAAGGACGGGCACTTTCATTGCCATTGATCGTCTCATCTACCAGATAGAGAATGAGAACACCGTGGATGTGTAT
Celera SNP ID:            hCV25943717
SNP Position Transcript:  4015
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,32)   total(C,3|T,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None



Context             (SEQ ID NO:8599):
AATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGCTTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCA
R
TGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTC
Celera SNP ID:            hCV25943549
SNP Position Transcript:  890
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,1)   caucasian(A,36)   total(A,63|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 36, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:8600):
TCAATCAGTGTGTTTTGGATATTGTCAGATCCCAGAAAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGC
R
CCCGTGACCACATTTGGAAAGACCAATGGTTACATCGCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCAC
Celera SNP ID:            hCV25943824
SNP Position Transcript:  4283
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,3|G,37)   total(A,8|G,70)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None



Context             (SEQ ID NO:8601):
GAATATACGGAATATTTAAACAGTAGCTTAGCATCAGAGGTTTGCTTCCTCAGTAACATTTCTGTTCTCATTTGATCAGGGGAGGCCTCTTTGCCCCGAC
Y
CCGCTTCCCCTGCCCCCTGTACATTTGTGCTCCATTTTTTCTTCCCTTTTCCCTCCCAGTTTTCTCCAAAGACTCTTCTGTTGGCAACATTTTCAACCCA
Celera SNP ID:            hCV28969034
SNP Position Transcript:  5017
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8602):
CACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGAC
R
TCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATCTGGAAAGTCAGCGATAACGAGTCGTCATCTAACTATACCTACAAGATACATGTGGCGGG
Celera SNP ID:            hCV15851318
SNP Position Transcript:  1429
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 216, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8603):
GGGCTGTCGGGGGCTGTGGATGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTG
Y
GGAAAACCAGGAAAAGGGAGCTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTG
Celera SNP ID:            hCV9497144
SNP Position Transcript:  4593
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8604):
TGGGTGGGGAGCAAATCATCTGCATTCCTGATGACCAATGGGATGAGGTCACTTTTTTTTTTTTTCCCCCTTGAGGATTGTGGAAAACCAGGAAAAGGGA
K
CTATGATTTTTTTTTCCAAAACAATTTCTTTTTTAAAAAAGACTATTTTATATGATTCACATGCTAAAGCCAGGATTGTGTTGGGTTGAATATATTTTAA
Celera SNP ID:            hCV9497136
SNP Position Transcript:  4613
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None   



Context             (SEQ ID NO:8605):
CTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACCATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGAT
R
CCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCA
Celera SNP ID:            hCV15851319
SNP Position Transcript:  1192
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1145, 137, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8606):
TACCGGTAATGGCTTGTGTGGCTGGCTTCACCAACATTACCTTCCACCCTCAAAACAAGGGGCTCATTGATGGGGCTGAGAGCTATGTGTCCTTCAGTCG
Y
TACTCAGATGCTGTTTCCTTGCCCCAGGATCCAGGTGTCATCTGTGGAGCGGTTTTTGGCTGTATCTTTGGTGCCCTGGTTATTGTGACTGTGGGAGGCT
Celera SNP ID:            hCV25943593
SNP Position Transcript:  3197
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,39|T,1)   total(C,69|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None



Context             (SEQ ID NO:8607):
AAGACTCAAAAGTAGATCTTATCTACCAGAACACAACTGCAATGACAATCTATGAAAACCTTGCGCCCGTGACCACATTTGGAAAGACCAATGGTTACAT
M
GCCTAATTCCAAAGGAATAACCTTTCTGGAGTGAACCAGACCGTCGCACCCACAGCGAAGGCACATGCCCCGATGTCGACATGTTTTTATATGTCTAATA
Celera SNP ID:            hCV25943747
SNP Position Transcript:  4319
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1145, None



Gene Number:                 171
Celera Gene:                 hCG23340 - 146000220662295
Celera Transcript:           hCT14447 - 146000220662296
Public Transcript Accession: 
Celera Protein:              hCP40710 - 197000064921027
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY6P(14242617..14259568)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:449):
ATGGAATCTGGACCCAAAATGTTGGCCCCCGTTTGCCTGGTGGAAAATAACAATGAGCAGCTATTGGTGAACCAGCAAGCTATACAGATTCTTGAAAAGA
TTTCTCAGCCAGTGGTGGTGGTGGCCATTGTAGGACTGTACCGTACAGGGAAATCCTACTTGATGAACCATCTGGCAGGACAGAATCATGGCTTCCCTCT
GGGCTCCACGGTGCAGTCTGAAACCAAGGGCATCTGGATGTGGTGCGTGCCCCACCCATCCAAGCCAAACCACACCCTGGTCCTTCTGGACACCGAAGGT
CTGGGCGATGTGGAAAAGGGTGACCCTAAGAATGACTCCTGGATCTTTGCCCTGGCTGTGCTCCTGTGCAGCACCTTTGTCTACAACAGCATGAGCACCA
TCAACCACCAGGCCCTGGAGCAGCTGCATTATGTGACGGAGCTCACAGAACTAATTAAGGCAAAGTCCTCCCCAAGGCCTGATGGAGYAGAAGATTCCAC
AGAGTTTGTGAGTTTCTTCCCAGACTTTCTTTGGACAGTACGGGATTTCACTCTGGAGCTGAAGTTGAACGGTCACCCTATCACAGAAGATGAATACCTG
GAGAATGCCTTGAAGCTGATTCAAGGCAATAATCCCAGAGTTCAAACATCCAATTTTCCCAGGGAGTGCATCAGGCGTTTCTTTCCAAAACGGAAGTGTT
TCGTCTTTGACCGGCCAACAAATGACAAAGACCTTCTAGCCAATATTGAGAAGGTGTCAGAAAAGCAACTGGATCCCAAATTCCAGGAACAAACAAACAT
TTTCTGTTCTTACATCTTCACTCATGCAAGAAYCAAGACCCTCAGGGAGGGAATCACAGTCACTGGGAATCGTCTGGGAACTCTGGCAGTGACTTATGTA
GAGGCCATCAACAGTGGAGCAGTGCCTTGTCTGGAGAATGCAGTGATAACTCTGGCCCAGCGTGAGAACTCAGCGGCCGTGCAGAGGGCAKCTGACTACT
ACAGCCAGCAGATGGCCCAGCGAGTGAAGYTCCCCACAGACACGCTCCAGGAGCTGCTGGACRTGCATGCGGCCTGTGAGAGGGAAGCCATTGCAATCTT
CATGGAGCACTCCTTYAAGGATGAAAATCAGGAATTCCAGAAGAAGTTCATGGAAACCACAATGAATAAGAAGGGGGATTTCTTGCTGCAGAATGAAGAG
TCATCTGTTCAATACTGCCAGGCTAAACTCAATGAGCTCTCAAAGGGACTAATGGAAAGTATCTCAGCAGGAAGTTTCTCTGTTCCTGGAGGGCACAAGC
TCTACATGGAAACAAAGGAAAGGATTGAACAGGACTATTGGCAAGTTCCCAGGAAAGGAGTAAAGGCAAAAGAGGTCTTCCAGAGGTTCCTGGAGTCACA
GATGGTGATAGAGGAATCCATCYTGCAGTCAGATAAAGCCCTCACTGATAGAGAGAAGGCAGTAGCAGTGGATCGGGCCAAGAAGGAGGCAGCTGAGAAG
GAACAGGAACTTTTAAAACAGAAATTACAGGAGCAGCAGCAACAGATGGAGGCTCAAGWTAAGAGTCGCAAGGAAAACATAGCCCAACTGAAGGAGAAGC
TGCAGATGGAGAGAGAACACCTACTGAGAGAGCAGATTATGATGTTGGAGCACACGCAGAAGGTCCAAAATGATTGGCTTCATGAAGGATTTAAGAAGAA
GTATGAGGAGATGAATGCAGAGATAAGTCAATTTAAACGTATGATTGATACTACAAAAAATGATGATACTCCCTGGATTGCACGAACCTTGGACAACCTT
GCCGATGAGCTAACTGCAATATTGTCTGCTCCTGCTAAATTAATTGGTCATGGTGTCAAAGGTGTGAGCTCACTCTTTAAAAAGCATAAGCTCCCCTTTT
AAGGATATTATAGATTGTACATATATGCTTTGGACT

Protein Sequence    (SEQ ID NO:1146):
MESGPKMLAPVCLVENNNEQLLVNQQAIQILEKISQPVVVVAIVGLYRTGKSYLMNHLAGQNHGFPLGSTVQSETKGIWMWCVPHPSKPNHTLVLLDTEG
LGDVEKGDPKNDSWIFALAVLLCSTFVYNSMSTINHQALEQLHYVTELTELIKAKSSPRPDGVEDSTEFVSFFPDFLWTVRDFTLELKLNGHPITEDEYL
ENALKLIQGNNPRVQTSNFPRECIRRFFPKRKCFVFDRPTNDKDLLANIEKVSEKQLDPKFQEQTNIFCSYIFTHARIKTLREGITVTGNRLGTLAVTYV
EAINSGAVPCLENAVITLAQRENSAAVQRASDYYSQQMAQRVKFPTDTLQELLDVHAACEREAIAIFMEHSFKDENQEFQKKFMETTMNKKGDFLLQNEE
SSVQYCQAKLNELSKGLMESISAGSFSVPGGHKLYMETKERIEQDYWQVPRKGVKAKEVFQRFLESQMVIEESILQSDKALTDREKAVAVDRAKKEAAEK
EQELLKQKLQEQQQQMEAQVKSRKENIAQLKEKLQMEREHLLREQIMMLEHTQKVQNDWLHEGFKKKYEEMNAEISQFKRMIDTTKNDDTPWIARTLDNL
ADELTAILSAPAKLIGHGVKGVSSLFKKHKLPF


SNP Information

Context             (SEQ ID NO:8608):
GCAGTAGCAGTGGATCGGGCCAAGAAGGAGGCAGCTGAGAAGGAACAGGAACTTTTAAAACAGAAATTACAGGAGCAGCAGCAACAGATGGAGGCTCAAG
W
TAAGAGTCGCAAGGAAAACATAGCCCAACTGAAGGAGAAGCTGCAGATGGAGAGAGAACACCTACTGAGAGAGCAGATTATGATGTTGGAGCACACGCAG
Celera SNP ID:            hCV8362309
SNP Position Transcript:  1559
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,32)   caucasian(A,5|T,29)   total(A,9|T,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 520, (D,GAT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 520, (D,GAT)   (V,GTT)      



Context             (SEQ ID NO:8609):
CTTCTAGCCAATATTGAGAAGGTGTCAGAAAAGCAACTGGATCCCAAATTCCAGGAACAAACAAACATTTTCTGTTCTTACATCTTCACTCATGCAAGAA
Y
CAAGACCCTCAGGGAGGGAATCACAGTCACTGGGAATCGTCTGGGAACTCTGGCAGTGACTTATGTAGAGGCCATCAACAGTGGAGCAGTGCCTTGTCTG
Celera SNP ID:            hCV25994795
SNP Position Transcript:  833
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,16|T,4)   total(C,24|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 278, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 278, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:8610):
CCCAGCGAGTGAAGTTCCCCACAGACACGCTCCAGGAGCTGCTGGACGTGCATGCGGCCTGTGAGAGGGAAGCCATTGCAATCTTCATGGAGCACTCCTT
Y
AAGGATGAAAATCAGGAATTCCAGAAGAAGTTCATGGAAACCACAATGAATAAGAAGGGGGATTTCTTGCTGCAGAATGAAGAGTCATCTGTTCAATACT
Celera SNP ID:            hCV25963477
SNP Position Transcript:  1116
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,38)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1146, 372, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:8611):
GACTTATGTAGAGGCCATCAACAGTGGAGCAGTGCCTTGTCTGGAGAATGCAGTGATAACTCTGGCCCAGCGTGAGAACTCAGCGGCCGTGCAGAGGGCA
K
CTGACTACTACAGCCAGCAGATGGCCCAGCGAGTGAAGTTCCCCACAGACACGCTCCAGGAGCTGCTGGACGTGCATGCGGCCTGTGAGAGGGAAGCCAT
Celera SNP ID:            hCV25964119
SNP Position Transcript:  991
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,29)   caucasian(G,4|T,24)   total(G,5|T,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 331, (A,GCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 331, (A,GCT)   (S,TCT)      



Context             (SEQ ID NO:8612):
AGCATGAGCACCATCAACCACCAGGCCCTGGAGCAGCTGCATTATGTGACGGAGCTCACAGAACTAATTAAGGCAAAGTCCTCCCCAAGGCCTGATGGAG
Y
AGAAGATTCCACAGAGTTTGTGAGTTTCTTCCCAGACTTTCTTTGGACAGTACGGGATTTCACTCTGGAGCTGAAGTTGAACGGTCACCCTATCACAGAA
Celera SNP ID:            hCV25997756
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,37)   total(C,1|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 163, (A,GCA)   (V,GTA)   



Context             (SEQ ID NO:8613):
TGAGAACTCAGCGGCCGTGCAGAGGGCATCTGACTACTACAGCCAGCAGATGGCCCAGCGAGTGAAGTTCCCCACAGACACGCTCCAGGAGCTGCTGGAC
R
TGCATGCGGCCTGTGAGAGGGAAGCCATTGCAATCTTCATGGAGCACTCCTTCAAGGATGAAAATCAGGAATTCCAGAAGAAGTTCATGGAAACCACAAT
Celera SNP ID:            hCV25963602
SNP Position Transcript:  1063
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,27)   caucasian(A,13|G,23)   total(A,16|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 355, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 355, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:8614):
GATTGAACAGGACTATTGGCAAGTTCCCAGGAAAGGAGTAAAGGCAAAAGAGGTCTTCCAGAGGTTCCTGGAGTCACAGATGGTGATAGAGGAATCCATC
Y
TGCAGTCAGATAAAGCCCTCACTGATAGAGAGAAGGCAGTAGCAGTGGATCGGGCCAAGAAGGAGGCAGCTGAGAAGGAACAGGAACTTTTAAAACAGAA
Celera SNP ID:            hCV25998916
SNP Position Transcript:  1423
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,27)   total(C,1|T,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1146, 475, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:8615):
TCTGGAGAATGCAGTGATAACTCTGGCCCAGCGTGAGAACTCAGCGGCCGTGCAGAGGGCATCTGACTACTACAGCCAGCAGATGGCCCAGCGAGTGAAG
Y
TCCCCACAGACACGCTCCAGGAGCTGCTGGACGTGCATGCGGCCTGTGAGAGGGAAGCCATTGCAATCTTCATGGAGCACTCCTTCAAGGATGAAAATCA
Celera SNP ID:            hCV25964059
SNP Position Transcript:  1030
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,26)   caucasian(T,12)   total(C,2|T,38)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 344, (L,CTC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1146, 344, (L,CTC)   (F,TTC)      



Gene Number:                 172
Celera Gene:                 hCG23448 - 104000117819631
Celera Transcript:           hCT2333115 - 104000117819647
Public Transcript Accession: NM_002633
Celera Protein:              hCP1809690 - 197000064952331
Public Protein Accession:    NP_002624
Gene Symbol:                 PGM1
Protein Name:                phosphoglucomutase 1
Celera Genomic Axis:         GA_x5YUV32W802(19469277..19505893)
Chromosome:                  Chr1
OMIM number:                 171900
OMIM Information:            PHOSPHOGLUCOMUTASE 1;PGM1


Transcript Sequence (SEQ ID NO:450):
ATGAGTGATTTTGAAGAATGGATTTCTGGGACATATAGAAAAATGGAAGAAGGTCCTCTCCCTCTGTTGACTTTTGCTACAGCTCCCTACCACGATCAGA
AACCAGGAACAAGTGGATTACGGAAGAAAACCTATTATTTTGAGGAAAAGCCATGCTATCTGGAGAATTTCATCCAGAGTATATTCTTTTCCATAGACCT
AAAAGATCGCCAGGGATCATCACTGGTGGTTGGTGGAGATGGGCGGTACTTTAATAAATCAGCAATAGAAACAATAGTGCAGATGGCAGCTGCCAATGGG
ATCGGTCGCTTGGTTRTCGGACAGAATGGAATCCTCTCCACCCCTGCTGTATCCTGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAG
CCAGTCACAACCCAGGGGGCCCCAATGGAGATTTTGGAATCAAATTCAATATYTCTAATGGAGGTCCTGCTCCAGAAGCAATAACTGATAAAATTTTCCA
AATCAGCAAGACAATTGAAGAATATGCAGTTTGCCCTGACCTGAAAGTAGACCTTGGTGTTCTGGGAAAGCAGCAGTTTGACTTGGAAAATAAGTTCAAA
CCCTTCACAGTGGAAATTGTGGATTCGGTAGAAGCTTATGCTACAATGCTGAGAAGCATCTTTGATTTCAGTGCACTGAAAGAACTACTTTCTGGGCCAA
ACCGACTGAAGATCYGTATTGATGCTATGCATGGAGTTGTGGGACCGTATGTAAAGAAGATCCTCTGTGAAGAACTCGGTGCCCCTGCGAACTCGGCAGT
TAACTGCGTTCCTCTGGAGGACTTTGGAGGCCACCACCCTGACCCCAACCTCACCTATGCAGCTGACCTGGTGGAGACCATGAAGTCAGGAGAGCATGAT
TTTGGGGCTGCCTTTGATGGAGATGGGGATCGAAACATGATTCTGGGCAAGCATGGGTTCTTTGTGAACCCTTCAGACTCTGTGGCTGTCATTGCTGCCA
ACATCTTCAGCATTCCGTATTTCCAGCAGACTGGGGTCCGCGGCTTTGCACGGAGCATGCCCACGAGTGGTGCTCTGGACCGGGTGGCTAGTGCTACAAA
GATTGCTTTGTATGAGACCCCAACTGGCTGGAAGTTTTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTGGGGAGGAGAGCTTCGGGACCGGT
TCTGACCACATCCGTGAGAAAGATGGACTGTGGGCTGTCCTTGCCTGGCTCTCCATCCTAGCCACCCGCAAGCAGAGTGTGGAGGACATTCTCAAAGATC
ATTGGCAAAAGYATGGCCGGAATTTCTTCACCAGGTATGATTACGAGGAGGTGGAAGCTGAGGGCGCAAACAAAATGATGAAGGACTTGGAGGCCCTGAT
GTTTGATCGCTCCTTTGTGGGGAAGCAGTTCTCAGCAAATGACAAAGTTTACACTGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTGGATGGA
AGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAATYRTCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGC
TGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGGTCATGTTGGCCCCCCTTATTTCCATTGCTCTGAAAGTGTCCCAGCT
GCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTAYGTCCCTCCACCCCCRGACYCATCCAAGTCATCTGA
TTGAAGAGCATGACAGAAACAAAATCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGACCTGYGGGCTTAGAT
CAATCTCAATTCCTTTTCATGCCCTCCTGCATTGCTGCTGCGTGGGTATTTGTCTCCTTAGCCATCAGGTACAGTTTACACTACAATGTAAGCTATAGGT
GGAGCATCAGCAGTGAGTGAGGCCATTCTTCATCCTTAGGATGTGGCAATGAAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAAWCTTTCCCCCCATTT
CCTGTTTACATGTAACCCAACAA

Protein Sequence    (SEQ ID NO:1147):
MSDFEEWISGTYRKMEEGPLPLLTFATAPYHDQKPGTSGLRKKTYYFEEKPCYLENFIQSIFFSIDLKDRQGSSLVVGGDGRYFNKSAIETIVQMAAANG
IGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFK
PFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHD
FGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTG
SDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDG
SISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT


SNP Information

Context             (SEQ ID NO:8616):
CTGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTGGATGGAAGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAAT
Y
GTCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGG
Celera SNP ID:            hCV25601174
SNP Position Transcript:  1554
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1147, 518, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8617):
AAGTCATCTGATTGAAGAGCATGACAGAAACAAAATCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGACCTG
Y
GGGCTTAGATCAATCTCAATTCCTTTTCATGCCCTCCTGCATTGCTGCTGCGTGGGTATTTGTCTCCTTAGCCATCAGGTACAGTTTACACTACAATGTA
Celera SNP ID:            hCV1270662
SNP Position Transcript:  1890
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   POOLE|_CEPH(C,36|T,152)   total(C,36|T,152)   SC_12_C(T,3|C,21)   SC_12_TT(T,9|C,12)   SC_95_C(T,26|C,161)   total(C,194|T,38)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None   



Context             (SEQ ID NO:8618):
ATCATCACTGGTGGTTGGTGGAGATGGGCGGTACTTTAATAAATCAGCAATAGAAACAATAGTGCAGATGGCAGCTGCCAATGGGATCGGTCGCTTGGTT
R
TCGGACAGAATGGAATCCTCTCCACCCCTGCTGTATCCTGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCAGG
Celera SNP ID:            hCV8905006
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,32|G,4)   total(A,60|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 106, (I,ATC)   (V,GTC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 106, (I,ATC)   (V,GTC)      106, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:8619):
CCCCCTTATTTCCATTGCTCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTA
Y
GTCCCTCCACCCCCGGACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGG
Celera SNP ID:            hCV1270664
SNP Position Transcript:  1765
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,34|T,4)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,7)      total(C,7|T,2) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   POOLE|_CEPH(T,24|C,164)   total(C,164|T,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None   



Context             (SEQ ID NO:8620):
CCTGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCAGGGGGCCCCAATGGAGATTTTGGAATCAAATTCAATAT
Y
TCTAATGGAGGTCCTGCTCCAGAAGCAATAACTGATAAAATTTTCCAAATCAGCAAGACAATTGAAGAATATGCAGTTTGCCCTGACCTGAAAGTAGACC
Celera SNP ID:            hCV8905007
SNP Position Transcript:  453
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,31)   caucasian(T,34)   total(C,3|T,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1147, 151, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8621):
TGCTCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCACCCCC
R
GACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAA
Celera SNP ID:            hCV25601161
SNP Position Transcript:  1780
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None



Context             (SEQ ID NO:8622):
ATGTAAGCTATAGGTGGAGCATCAGCAGTGAGTGAGGCCATTCTTCATCCTTAGGATGTGGCAATGAAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAA
W
CTTTCCCCCCATTTCCTGTTTACATGTAACCCAACAA
Celera SNP ID:            hCV8905117
SNP Position Transcript:  2086
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None   



Context             (SEQ ID NO:8623):
CTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCACCCCCGGAC
Y
CATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGG
Celera SNP ID:            hCV25601171
SNP Position Transcript:  1784
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1147, None



Context             (SEQ ID NO:8624):
AATTGTGGATTCGGTAGAAGCTTATGCTACAATGCTGAGAAGCATCTTTGATTTCAGTGCACTGAAAGAACTACTTTCTGGGCCAAACCGACTGAAGATC
Y
GTATTGATGCTATGCATGGAGTTGTGGGACCGTATGTAAAGAAGATCCTCTGTGAAGAACTCGGTGCCCCTGCGAACTCGGCAGTTAACTGCGTTCCTCT
Celera SNP ID:            hCV25473504
SNP Position Transcript:  715
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,12)   caucasian(C,26|T,8)   total(C,50|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 239, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:8625):
CCGTGAGAAAGATGGACTGTGGGCTGTCCTTGCCTGGCTCTCCATCCTAGCCACCCGCAAGCAGAGTGTGGAGGACATTCTCAAAGATCATTGGCAAAAG
Y
ATGGCCGGAATTTCTTCACCAGGTATGATTACGAGGAGGTGGAAGCTGAGGGCGCAAACAAAATGATGAAGGACTTGGAGGCCCTGATGTTTGATCGCTC
Celera SNP ID:            hCV1270687
SNP Position Transcript:  1312
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,6|T,26)   total(C,12|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 438, (H,CAT)   (Y,TAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,9)   total(C,2|T,9)Caucasian(C,59|T,249)   Chinese(C,23|T,37)   Japanese(C,7|T,13)   African(C,12|T,74)   total(C,101|T,373)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 438, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:8626):
TGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTGGATGGAAGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAATC
R
TCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGGT
Celera SNP ID:            hCV25601173
SNP Position Transcript:  1555
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 519, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1147, 519, (I,ATC)   (V,GTC)      



Gene Number:                 172
Celera Gene:                 hCG23448 - 104000117819631
Celera Transcript:           hCT14555 - 104000117819632
Public Transcript Accession: NM_002633
Celera Protein:              hCP40773 - 197000064952330
Public Protein Accession:    NP_002624
Gene Symbol:                 PGM1
Protein Name:                phosphoglucomutase 1
Celera Genomic Axis:         GA_x5YUV32W802(19469139..19536135)
Chromosome:                  Chr1
OMIM number:                 171900
OMIM Information:            PHOSPHOGLUCOMUTASE 1;PGM1


Transcript Sequence (SEQ ID NO:451):
GGGAGAGTAAATCAGTAAGGCTCCACCCATTTCACAGGAGGCCTAGAGACCGGCGCTCCCCTTTCCCCTCCCGCCGGACCTGCCAGGAGGTGGGCTGGCG
CGGAGGGAGGGCCCTGTCCCCTGTCCCTTTAAGGAGGAGGGCCAAACGCCGGCCTAGAGTGCGGCGTAGCCCCCACCCGCCGTGCCCTCACCCCAGAGCA
GCTGCAGCCTCAGCCGGCCGCCCCTCCGCCAGCCAAGTCCGCCGCTCTGACCCCCGGCAGCAAGTCGCCACCATGGTGAAGATCGTGACAGTTAAGACCC
AGGCGTACCAGGACCAGAAGCCGGGCACGAGCGGGCTGCGGAAGCGGGTGAAGGTGTTCCAGAGCAGCGCCAACTACGCGGAGAACTTCATCCAGAGTAT
CATCTCCACCGTGGAGCCGGCGCAGCGGCAGGAGGCCACGCTGGTGGTGGGCGGGGACGGCCGGTTCTACATGAAGGAGGCCATCCAGCTCATCGCTCGC
ATCGCTGCCGCCAACGGGATCGGTCGCTTGGTTRTCGGACAGAATGGAATCCTCTCCACCCCTGCTGTATCCTGCATCATTAGAAAAATCAAAGCCATTG
GTGGGATCATTCTGACAGCCAGTCACAACCCAGGGGGCCCCAATGGAGATTTTGGAATCAAATTCAATATYTCTAATGGAGGTCCTGCTCCAGAAGCAAT
AACTGATAAAATTTTCCAAATCAGCAAGACAATTGAAGAATATGCAGTTTGCCCTGACCTGAAAGTAGACCTTGGTGTTCTGGGAAAGCAGCAGTTTGAC
TTGGAAAATAAGTTCAAACCCTTCACAGTGGAAATTGTGGATTCGGTAGAAGCTTATGCTACAATGCTGAGAAGCATCTTTGATTTCAGTGCACTGAAAG
AACTACTTTCTGGGCCAAACCGACTGAAGATCYGTATTGATGCTATGCATGGAGTTGTGGGACCGTATGTAAAGAAGATCCTCTGTGAAGAACTCGGTGC
CCCTGCGAACTCGGCAGTTAACTGCGTTCCTCTGGAGGACTTTGGAGGCCACCACCCTGACCCCAACCTCACCTATGCAGCTGACCTGGTGGAGACCATG
AAGTCAGGAGAGCATGATTTTGGGGCTGCCTTTGATGGAGATGGGGATCGAAACATGATTCTGGGCAAGCATGGGTTCTTTGTGAACCCTTCAGACTCTG
TGGCTGTCATTGCTGCCAACATCTTCAGCATTCCGTATTTCCAGCAGACTGGGGTCCGCGGCTTTGCACGGAGCATGCCCACGAGTGGTGCTCTGGACCG
GGTGGCTAGTGCTACAAAGATTGCTTTGTATGAGACCCCAACTGGCTGGAAGTTTTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTGGGGAG
GAGAGCTTCGGGACCGGTTCTGACCACATCCGTGAGAAAGATGGACTGTGGGCTGTCCTTGCCTGGCTCTCCATCCTAGCCACCCGCAAGCAGAGTGTGG
AGGACATTCTCAAAGATCATTGGCAAAAGYATGGCCGGAATTTCTTCACCAGGTATGATTACGAGGAGGTGGAAGCTGAGGGCGCAAACAAAATGATGAA
GGACTTGGAGGCCCTGATGTTTGATCGCTCCTTTGTGGGGAAGCAGTTCTCAGCAAATGACAAAGTTTACACTGTGGAGAAGGCCGATAACTTTGAATAC
AGCGACCCAGTGGATGGAAGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAATYRTCTTCCGACTGAGCGGCACTGGGAGTG
CCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGGTCATGTTGGCCCCCCTTATTTCCATTGC
TCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTAYGTCCCTCCACCCCCRGA
CYCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCAMGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGAYGAGCAGTGC
ATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGACCTGYGGGCTTAGATCAATCTCAATTCCTTTTCATGCCCTCCTGCA
TTGCTGCTGCGTGGGTATTTGTCTCCTTAGCCATCAGGTACAGTTTACACTACAATGTAAGCTATAGGTGGAGCATCAGCAGTGAGTGAGGCCATTCTTC
ATCCTTAGGATGTGGCAATGAAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAAWCTTTCCCCCCATTTCCTGTTTACATGTAACCCAACAAAATGCAAT
TTCTAGTGCCTTCTGTMCAAYCAGTTCTTTCCTCTGAGTGAGACGTACTTGGCTACAGATTTCTGCCTTGTTTTGCGACATTGTCCCATTCACACAGATA
TTTTGGGATAATAAAGGAAAATAAGCTACA

Protein Sequence    (SEQ ID NO:1148):
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVS
CIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLR
SIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLS
ILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRI
VFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT


SNP Information

Context             (SEQ ID NO:8627):
CTGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTGGATGGAAGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAAT
Y
GTCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGG
Celera SNP ID:            hCV25601174
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1148, 500, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8628):
TTTAGGATTTGACTTTTTCACTAACCAGTTGACGAGCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGACCTG
Y
GGGCTTAGATCAATCTCAATTCCTTTTCATGCCCTCCTGCATTGCTGCTGCGTGGGTATTTGTCTCCTTAGCCATCAGGTACAGTTTACACTACAATGTA
Celera SNP ID:            hCV1270662
SNP Position Transcript:  2159
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;no_pop(T,-|C,-)   POOLE|_CEPH(C,36|T,152)   total(C,36|T,152)   SC_12_C(T,3|C,21)   SC_12_TT(T,9|C,12)   SC_95_C(T,26|C,161)   total(C,194|T,38)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8629):
TCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCACCCCCGGACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCA
M
GCATTTTAGGATTTGACTTTTTCACTAACCAGTTGACGAGCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGA
Celera SNP ID:            hCV1270663
SNP Position Transcript:  2054
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,3)   caucasian(A,30|C,4)   total(A,57|C,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|A,6)      total(A,6|C,1) ;no_pop(A,-|C,-)   ;POOLE|_CEPH(C,39|A,149)   total(A,149|C,39)no_pop(C,-|A,-)   JBIC-allele(C,185|A,900)   total(C,185|A,900)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8630):
GGCCACGCTGGTGGTGGGCGGGGACGGCCGGTTCTACATGAAGGAGGCCATCCAGCTCATCGCTCGCATCGCTGCCGCCAACGGGATCGGTCGCTTGGTT
R
TCGGACAGAATGGAATCCTCTCCACCCCTGCTGTATCCTGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCAGG
Celera SNP ID:            hCV8905006
SNP Position Transcript:  534
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,6)   caucasian(A,32|G,4)   total(A,60|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 88, (I,ATC)   (V,GTC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 88, (I,ATC)   (V,GTC)      88, (V,GTC)   (I,ATC)      



Context             (SEQ ID NO:8631):
CCCCCTTATTTCCATTGCTCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTA
Y
GTCCCTCCACCCCCGGACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCATTTTAGGATTTGACTTTTTCACTAAC
Celera SNP ID:            hCV1270664
SNP Position Transcript:  1983
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,34|T,4)   total(C,67|T,7)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|C,7)      total(C,7|T,2) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   POOLE|_CEPH(T,24|C,164)   total(C,164|T,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8632):
CCTGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCAGGGGGCCCCAATGGAGATTTTGGAATCAAATTCAATAT
Y
TCTAATGGAGGTCCTGCTCCAGAAGCAATAACTGATAAAATTTTCCAAATCAGCAAGACAATTGAAGAATATGCAGTTTGCCCTGACCTGAAAGTAGACC
Celera SNP ID:            hCV8905007
SNP Position Transcript:  671
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,31)   caucasian(T,34)   total(C,3|T,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1148, 133, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:8633):
AAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAATCTTTCCCCCCATTTCCTGTTTACATGTAACCCAACAAAATGCAATTTCTAGTGCCTTCTGTCCAA
Y
CAGTTCTTTCCTCTGAGTGAGACGTACTTGGCTACAGATTTCTGCCTTGTTTTGCGACATTGTCCCATTCACACAGATATTTTGGGATAATAAAGGAAAA
Celera SNP ID:            hCV8905123
SNP Position Transcript:  2421
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8634):
TGCTCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCACCCCC
R
GACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGACGAGCAGT
Celera SNP ID:            hCV25601161
SNP Position Transcript:  1998
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None



Context             (SEQ ID NO:8635):
ATGTAAGCTATAGGTGGAGCATCAGCAGTGAGTGAGGCCATTCTTCATCCTTAGGATGTGGCAATGAAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAA
W
CTTTCCCCCCATTTCCTGTTTACATGTAACCCAACAAAATGCAATTTCTAGTGCCTTCTGTCCAATCAGTTCTTTCCTCTGAGTGAGACGTACTTGGCTA
Celera SNP ID:            hCV8905117
SNP Position Transcript:  2355
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8636):
AATGAAATGATGGTGCAAGTTCCTTTCTCTTTTGTGAATCTTTCCCCCCATTTCCTGTTTACATGTAACCCAACAAAATGCAATTTCTAGTGCCTTCTGT
M
CAATCAGTTCTTTCCTCTGAGTGAGACGTACTTGGCTACAGATTTCTGCCTTGTTTTGCGACATTGTCCCATTCACACAGATATTTTGGGATAATAAAGG
Celera SNP ID:            hCV8905118
SNP Position Transcript:  2417
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8637):
AATTGTGGATTCGGTAGAAGCTTATGCTACAATGCTGAGAAGCATCTTTGATTTCAGTGCACTGAAAGAACTACTTTCTGGGCCAAACCGACTGAAGATC
Y
GTATTGATGCTATGCATGGAGTTGTGGGACCGTATGTAAAGAAGATCCTCTGTGAAGAACTCGGTGCCCCTGCGAACTCGGCAGTTAACTGCGTTCCTCT
Celera SNP ID:            hCV25473504
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,12)   caucasian(C,26|T,8)   total(C,50|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 221, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:8638):
CCGTGAGAAAGATGGACTGTGGGCTGTCCTTGCCTGGCTCTCCATCCTAGCCACCCGCAAGCAGAGTGTGGAGGACATTCTCAAAGATCATTGGCAAAAG
Y
ATGGCCGGAATTTCTTCACCAGGTATGATTACGAGGAGGTGGAAGCTGAGGGCGCAAACAAAATGATGAAGGACTTGGAGGCCCTGATGTTTGATCGCTC
Celera SNP ID:            hCV1270687
SNP Position Transcript:  1530
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,6|T,26)   total(C,12|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 420, (H,CAT)   (Y,TAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,9)   total(C,2|T,9)Caucasian(C,59|T,249)   Chinese(C,23|T,37)   Japanese(C,7|T,13)   African(C,12|T,74)   total(C,101|T,373)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 420, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:8639):
CTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCACCCCCGGAC
Y
CATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGACGAGCAGTGCAT
Celera SNP ID:            hCV25601171
SNP Position Transcript:  2002
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None



Context             (SEQ ID NO:8640):
CACCCCCGGACCCATCCAAGTCATCTGATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGA
Y
GAGCAGTGCATTTACAAGGCACTGCCAAACAAGATGCCCTTGGGAGCTGTGAGGGAAAGAGGACCTGCGGGCTTAGATCAATCTCAATTCCTTTTCATGC
Celera SNP ID:            hCV16066942
SNP Position Transcript:  2091
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1148, None   



Context             (SEQ ID NO:8641):
TGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTGGATGGAAGCATTTCAAGAAATCAGGGCTTGCGCCTCATTTTCACAGATGGTTCTCGAATC
R
TCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAGGT
Celera SNP ID:            hCV25601173
SNP Position Transcript:  1773
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 501, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1148, 501, (I,ATC)   (V,GTC)      



Gene Number:                 173
Celera Gene:                 hCG23811 - 83000099044099
Celera Transcript:           hCT14923 - 83000099044100
Public Transcript Accession: NM_016166
Celera Protein:              hCP41197 - 197000069412585
Public Protein Accession:    NP_057250
Gene Symbol:                 PIAS1
Protein Name:                protein inhibitor of activated STAT, 1;DDXBP1;GBP;GU/RH-II
Celera Genomic Axis:         GA_x5YUV32VYLS(24332389..24468764)
Chromosome:                  Chr15
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:452):
GGCGGAGGCCAGAGGCGGGCTGGGAAGGTGGAGGGGCGGGCCGGGGCGGGGCCAGGCCGGCTAGAGGGGCGGGTCTAGCGGCGGCCCCCGGCGAAGTTCA
CTGCGCTTGCGCTGACAGACGCAAGATGGCGGACAGTGCGGAACTAAAGCAAATGGTTATGAGCCTTAGAGTTTCTGAACTCCAAGTACTGTTGGGCTAC
GCYGGGAGAAACAAGCACGGACGCAAACACGAACTTCTCACAAAAGCCCTGCATTTGCTAAAGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGG
AACTCTATAGGCGGCGGTTCCCACAGAAAATCATGACGCCTGCAGACTTGTCCATCCCCAAYGTACATTCAAGTCCTATGCCAGCAACTTTGTCTCCATC
TACCATTCCACAACTCACTTACGATGGTCACCCTGCATCATCGCCATTACTCCCTGTTTCTCTTCTGGGACCTAAACATGAACTGGAACTCCCACATCTT
ACATCAGCTCTTCACCCAGTCCATCCGGATATAAAACTTCAAAAATTACCATTTTATGATTTACTGGATGAACTGATAAAACCCACCAGTCTAGCATCAG
ACAACAGTCAGCGCTTTCGAGAAACCTGTTTTGCATTTGCCTTGACACCACAACAAGTGCAGCAAATCAGTAGTTCCATGGATATTTCTGGGACCAAATG
TGACTTCACAGTACAGGTCCAGTTAAGGTTTTGTTTATCAGAAACCAGTTGTCCACAAGAAGATCACTTCCCACCCAATCTTTGTGTGAAAGTGAATACA
AAACCTTGCAGCCTTCCAGGTTACCTTCCACCTACAAAAAATGGCGTGGAACCAAAGCGACCCAGCCGACCAATTAATATCACCTCACTTGTCCGACTGT
CCACAACAGTACCAAACACGATTGTTGTTTCTTGGACTGCAGAAATTGGAAGAAACTATTCCATGGCAGTATATCTTGTAAAACAGTTGTCCTCAACAGT
TCTTCTTCAGAGGTTACGAGCAAAGGGAATAAGGAATCCGGATCATTCTAGAGCTTTAATTAAAGAGAAGTTGACTGCGGATCCAGACAGTGAAATAGCT
ACAACCAGCCTAAGGGTTTCTCTACTATGTCCACTTGGTAAAATGCGGCTGACAATTCCGTGTCGGGCCCTTACATGTTCTCATCTACAATGTTTTGACG
CAACTCTTTACATTCAGATGAATGAGAAAAAACCAACCTGGGTTTGTCCTGTCTGTGATAAGAAGGCTCCATATGAACACCTTATTATTGATGGCTTGTT
TATGGAAATCCTAAAGTACTGTACAGACTGTGATGAAATACAATTTAAGGAGGATGGCACTTGGGCACCGATGAGATCAAAAAAGGAAGTACAGGAAGTT
TCTGCCTCTTACAATGGAGTCGATGGATGCTTGAGCTCCACATTGGAGCATCAGGTAGCGTCTCACCACCAGTCCTCAAATAAAAACAAGAAAGTAGAAG
TGATTGACCTAACCATAGACAGTTCATCTGATGAAGAGGAAGAAGAGCCATCTGCCAAGAGGACCTGTCCTTCCCTATCTCCCACATCACCACTAAATAA
TAAAGGCATTTTAAGTCTTCCACATCAAGCATCTCCAGTATCCCGCACCCCAAGCCTTCCTGCTGTAGACACAAGCTACATTAATACCTCCCTCATCCAA
GACTATAGGCATCCTTTCCACATGACACCCATGCCTTACGACTTACAAGGATTAGATTTCTTTCCTTTCTTATCAGGAGACAATCAGCATTACAACACCT
CCTTGCTTGCCGCTGCAGCAGCAGCAGTTTCAGATGATCAAGACCTCCTACACTCGTCTCGGTTTTTCCCGTATACCTCCTCACAGATGTTTCTTGATCA
GTTAAGTGCAGGAGGCAGTACTTCTCTGCCAACCACCAATGGAAGCAGTAGTGGCAGTAACAGCAGCCTGGTTTCTTCCAACAGCCTAAGGGAAAGCCAT
AGCCACACCGTCACAAACAGGAGCAGCACGGACACGGCATYCATCTTTGGCATCATACCAGACATTATTTCATTGGACTGATTCCCAGGCCCTGCTGCTC
CCATCCCCACCCCAGATCGAATGAACTTGGCAGAAAGAAGAGAACTTTGTGCTCTGTTTTACCTTACTCTGTTTAGAAAAGTATACAAGCGTGTTTTTTT
TCCTTTTTTTAGGGAAAAAATTAAAAGAAATGTACAGAGAACAAAACTATATTTTCAGTTTTACTTTTGTATATAAATCTAAGACTGCCTGTGTGATAAA
ACACTTGTTTAAAAAAAAAAAGGAAAGAAAAGAAAAAAGAAAAACAAGCACCCACAAACCACCTTCAGTTCATTTTTTTCTGGATTCTGAAGATTTTTCA
TTATTTGTCCTATGGTTTTGGTTTTATTTGACTTCGATGGCATTATTTTATTTGCAATAACAGAAAAGGAATTGCATGTATGAAGTTTTCAATCGTGGGC
TTTTCTTTGTTGTGGGGAGGGGGTCGGGGGATAGTTTGATTTCCATTTTCTGAAAACGACAGACTTGGATTCTGTTTGTGTGTGCATATTTTATCCAGCC
TTAAGTTATAAAGCTCATCTGTCCCGCTGCATTCCCTGTGTATTTTCAGGACATGGCTCGTGGGTGTGTGTGTTCATTGTGTGCGTCTGTATGTATTTTT
CTGTCATCACTGTTCCCTCTCCTCCCGAGTGTGCATTCAGTTAATATAATCAGTTGCTTGCTTCTTTCAAAGTGCTTTGAAGGTCTTGAACTCAYGTGTG
AGCATCTTTATCAACTATCCCAATTGCATGTTCTCCATCACATATTCTCTTATTTGCTCTGTACCCCCTGAGAATATGTTTTAGAGATATTGGAATAAAG
CTGTCTGGGTAAGGAGTAGGCTTAGCCGACCTATGAATAATACACTTTAGTCTAGTTCTTTATTCTAAATCTGGATTGCCAGTATTGTGTATTTAAACCA
AGTCTGTGAATACCTGCTTTTTTTGGCCACAGAGTAACAAGTTTTCATGTAAGATCTTCATACCAAAGTAGGAAGTAAAAATAGCTTAGAAAGCTCTGTC
AGGTGTTTTGTGCAGCTGACAGAGGTAATGTTACATCACCTAAAAAAGAAAGATACACGGTCAGTTATCCTAAAAATAAATTGTTTGGAAAGTACAATGC
ACCACATTTTTGTAGAAGTCTACTATTTGATAAACAGTTGAAATTCAAGATGTGTTTGACCCTTAGTCATTTTTACTCTTTGGTTCTGAGTATACCTATT
TTCTTAGCGTATCTGCCYTGTTTATCTTTTTCTTCACCTTTTAACAAGTATGACATAGGAAAGTCATTTTTTTTTAGAATTCATGGATCAGTCTGATCTA
CTCTTATTCATAATGGAACATGTAAATATACTGAAAACTGTTTTTCAGGAGAGAAATATGAGTTGGAGGGAAGGAAAAGTGGTTCTACTWATGTTCCAAA
ATCCTCATCAGAGAAGGTATGATGTTCTCAGGTGTGGAAAATATTTTTTAGTTGATTGAGAATGCAGGTTTAACAGAAGAGATAAGGGGCATAATGACTG
CTGGTTTTCCAGACTGGATTTTCCTACCGCAACTATTAATGTTCTCAGAGTTGATGAGGACCACCTTTGTGTATACACTTGTAGTTTTAAACCTTGCATT
GGTAACAAAATGATCAACTTTAATCCAGGTAGAATTCAAGATGGCTGTACTTCAGTTGTATGATAAAATTAATGGTTCTCATGACTTGTGTGGCATCTAA
AAATAATGTTTTTATAGCATCTCTCTGCCACYAAATTGTTGACTTGAATTTTGGGAAAAAAAAAAGTTGGTGTTGATATGTATATGTGTGTGTGTATATA
TGTATTTATAAACAAGTGTGTTTGAGTAACAAGTGAGTTTCATAGTCTTCCCCTACGCATGTGTATTCCACACACAAATGGCTGAGTTATAGTCATAAAA
CAATTTGCAATAAAAAAAAAACCAAAACAGATTGTCAGTTAACCAGGAAACAGTTAATGTTTTTTAATGAATCTGGCATTATAGTGAGCAAATGTCGTAT
TAATTTAGGCTAATTTCTAATACTACCATAATTTGTGTCTAAATTTCTGTTGGGGTAGAAATTACTAAAATTGTGGGGAGTTTTTTCTGATTTTTACATT
GCTTTAGGAAACATTTTTACTAATTCAGCTGTCTTAGGTAAAATGAATAGTTTTCTTCCTGTTTTTTTATGTGTCATTGTTAGTGGTCTCAGAATTCTGA
TCAGTAACTTTGTGTATGATGCTGAATTACAAACCGTTTGAATGATCCAGTTGAAAACGTATCCCTCTACTTTCTTCAGTTGTAGAAAAGGTTAATTTCC
CTCAGTGTCCCACATTATACCAACCTAAGAGAAGAACAGGTAATAGGGAGAAATAAACATACGGTGGTTTCAGTGGTTTTGGTCATGTGTCCACAGGAGA
AACTAACCATTCAGTTGTCTTAATTTTAGTTCGTTCTACCCTGTGAGGAGTTTGTTTCCATCAGTTGTTGACTTTCCAAAATGTTGCATTAAGTAATAGT
TGTCACTCTGTTGGTCTCATGGTCAATATCAATCAGACTTTCATGATCTCTACTAATTATTAGTAGAGTCCTGTACTATGTCTGTAACTACTAAGTTTAA
AGAAAAGCACATAGTCACTTCATCTCTTTTTTTCTTAGCCTACGCTCACTCCCCAACCCATCCCAACATTGACATGCTATCTGTGGACAAATAGCAGTTC
TCAGAATCTAGTCAAGTTGCCATCATCCCCCTTGCCTTGGCCGTTCATAGTAGGTATGCATATGTTTGTTTCTGTACAGTACTGTGTGTGTGTGTGTATA
TATATATACATCTGTATGCACACATCTTTGATAAAATAGCTATTTGACTAGCAGGGTTAAAGTGGCTTTTAATTACTTCGTGAGTGTTATTGGATACATC
TTAAAAAAAAAAAATCTGAACCAGAACCATGCCATACTTGGTTGACTATTTTGAGCATTAAAATTGCTTTACTAATTATTTAGACATGATCACAATTCTG
TATCTTTACTGAGGAAAGATTCACGTAAGCTCTGAAAAATCGGATTCTTTGGCAGATTTTCCTTTGAGTCAAGTGTCTGAAATGGAGTGAAAATATATCC
TAACTAAATTAATGTGGAAAGAGCATTTTTTTAGACAATTTCAATTTTAAACACATAAAACTTTCAAGATCTTCAGGACTTTTTAAAGCACATTTGAAAT
TATTTTAGTAAGAATTTTGTTTTATCAATAGATGTTGAATTCTGTTTTTTAATTAAATACAAAGCTTAGATTTCAGAAAGAGAGGGAAAATAGCTGGTGG
TCCCAGAGTGTGCTGCTGTTAATTGTTTAACAAAGGGGAAAATGTACATAAACAGATAAAGTTACCATAAATTCCATGAACTTAAATCTGTGATTCATTG
CCTTAAAACTTTCTCTCTTAGAATTTCCATACCGCATGCCAAACCAGTAAAATGGCTTTTAAAAATGTATAGTAGACAATGTCAGTTTGTATAAAAGTAC
CAAGTGAAAATATTTATTACATGCATTGGAAAAAAATTGTTTACCTATTGAATGTTACCTGTTTATGTAGAGCTCTTTAGATGTAATAAAAGAAAAGCCT
TCAGTTAATTTGTCTTCTGTAAAATAACACTGCTGGATGTTCAAGGGGACAATCCCTATGAGACAAGTGATAATGGTTTGTGCTTCCAAAGCACCTTTCA
TCCAGAGATTTCAAAGCATGACAAGTAACTAACTAATTTTCTTGCAGCATGCTTTGAGGTAAGTAATGAATATAGCCATCATTTCCCTTTCTTGTTGAAA
TATGGCTAACTCTTTAATAAATCACAGCATCTGTTTAGTATCTGCAGTTTGAATGCTAAGAGCACCGTGGCCTTCTTGTAAACAACACTAGGTGCTAGAG
AAACCAGCTGGAATTTCAGGAATGAGCTTGAAACCAGGACCAGGAGTAAGGTAACAGCCCTTCCTCGGGTAGAGGTTTGAATCAAACACTTAATAGGATC
TTAGACTCTGGACCACTGAATCCCTTAATGAGCAGGGAGTCCGTGAAGAGGAGCCCCAGGTTCTAATGACCATTCCACACCAACTGTGTGTTTTTGGCAA
GTTATATTTCAGATTCCTGTTAGGCAAATGAGATTCATAAAACTTGCTTTAAAACCATACTGGGACTATTCAGTGATAAATATAGACATAGAAAAGCTTT
GACGGAAAGTACCCTCATTTATTATATCCAGAACTTGCTCTTCCTGTGCCATCTAAATCATTGGTATCTATCTCCCATCTAATCTTTGGTATTCCAGGTT
GGCTGTGCAGGATTTACTTCCTAATGTCCATGACTGGAGCTCAAAAGAACTGTGGGCCTAGGACCTTTGAGCTTTGCCTGAAAGTGACAGCAGTTCTCTC
GGCGGGGCCAGCATCTAACCGGCCCTCTGGTGGATTTACCATGAAGGTAATGAAGTTTAAGCACCAGGACCCTTCACTTGTTCTGGTCCTAGGAGCAGCC
CCAGAAATTCTGCATTTCTGTTTTTGTATTCTTAAGGCAGCCAAATCTCGTAAACCTCAGACCCCACAAAACATCTGCTCCTACACTGTGTGGACCTGGG
CTTCCCAGCCAGATGGTCACAACTTCACCTAGTTGGCATTTGGGCCATTTATTTACCCTCACCCCACAAAACTCTTTGGCTCCTAGGAATTCCTCCTCTC
CTTGCAGTTATGCTTGGGGAAATGAGAGTCTCCTTCCTCAGGGCCTTGTTTGGGTCTGAAGCCACACAGCATCGTTGAGACAGTTGCACTAACACTACAA
CTCTTGTTCCCTGCAGTTTTCCCTGTGCCCGGTGCCTAGTGAAAGATTTGTGTCTTGTACATCCTCCCAAAAGACACATCCCATTTGATTTGGTTTTCTT
CTACTTTAGCCACTGTGGTACTACTAGACAAAGCCACAGCCCAGAGAACCCACTTTTGATACATACATGGATGCAAATCTTTGTACTTGAAGCCCTGCAC
CCCTACCTGTGTTGGTGTGGTACTCCAGCCCTTTTAGGACTGTGCTGGCACTACGAATGATCCAGATTTGACAAGTGTATGGCACCTCTGAATCTCTGGC
AGCACCAACCTGGCACCTTCTAGCTGTGTAACTCACTCAAAGCCACTCCAGCTGGATGGACTCCCAGAAAGCCTAGTGCTCCTACTACTGTTTTCCAGGG
CTGTTGTACCCTGGCCATTGCTGGTTACATCCCCTTATTTCTCTCCGTAAGTCCTGGGGAGGTGGCTTAAGGCAATGACCAGTGTGGGCCACTTGAGCAG
ACCATCCCGGAACCTCTCTGCCTGTTAACAGAGCCCAGGGAACAGCTCGGAATTCTCACAGCATTGGAAGCCCCCTTCTTGAGCTCTGCAAGGCCAGTCA
ATTTAGCAGCTCACATCTGGTTTCCTTTGGTGTGGGGTGTAAAGTAGATCGCTCTTCCTGCTCTCAGCTGATGCTGCCTCATTGTAGCATGTGTTTTCAC
TCTAGTGTTTTCACTCTACACTCTGTGTTTATGAATGAATAGCCTGAGCTATGTCACTATATCTGTTGAGATGGAAATGAGAATTTGTAAATGGGCCTCT
GGCACTGCAAGAATTGTTGTCATAAGTGTTACAGCTTTCTGTTCATTGCTGCTTCTCAGCTAGCACTGGCTTCATCTTGGAAAATCTTGGAAATATGGAA
GATGGTTCTAGCCCCCAAATACAGAATAAGTCTCTTGGTAGATTGCCCTTAAGTCATCAGCTCAATCCTTCCTCAACAGGCTCCATGAGGTAAGAAGTGG
GAATCCAGCTTGTGTGGGGGGGCTTTGAGGAGTGAAATGA

Protein Sequence    (SEQ ID NO:1149):
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYD
GHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQL
RFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAK
GIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCT
DCDEIQFKEDGTWAPMRSKKEVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPH
QASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTS
LPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD


SNP Information

Context             (SEQ ID NO:8642):
AGTCTGATCTACTCTTATTCATAATGGAACATGTAAATATACTGAAAACTGTTTTTCAGGAGAGAAATATGAGTTGGAGGGAAGGAAAAGTGGTTCTACT
W
ATGTTCCAAAATCCTCATCAGAGAAGGTATGATGTTCTCAGGTGTGGAAAATATTTTTTAGTTGATTGAGAATGCAGGTTTAACAGAAGAGATAAGGGGC
Celera SNP ID:            hCV1713056
SNP Position Transcript:  3490
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|A,4)   total(A,4|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1149, None   



Context             (SEQ ID NO:8643):
GAATTCAAGATGGCTGTACTTCAGTTGTATGATAAAATTAATGGTTCTCATGACTTGTGTGGCATCTAAAAATAATGTTTTTATAGCATCTCTCTGCCAC
Y
AAATTGTTGACTTGAATTTTGGGAAAAAAAAAAGTTGGTGTTGATATGTATATGTGTGTGTGTATATATGTATTTATAAACAAGTGTGTTTGAGTAACAA
Celera SNP ID:            hCV9710642
SNP Position Transcript:  3832
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1149, None   



Context             (SEQ ID NO:8644):
TCCTTCCTCAGGGCCTTGTTTGGGTCTGAAGCCACACAGCATCGTTGAGACAGTTGCACTAACACTACAACTCTTGTTCCCTGCAGTTTTCCCTGTGCCC
G
GTGCCTAGTGAAAGATTTGTGTCTTGTACATCCTCCCAAAAGACACATCCCATTTGATTTGGTTTTCTTCTACTTTAGCCACTGTGGTACTACTAGACAA
Celera SNP ID:            hCV26911669
SNP Position Transcript:  6931
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,7)   total(G,7|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1149, None   



Context             (SEQ ID NO:8645):
GGAAGCAGTAGTGGCAGTAACAGCAGCCTGGTTTCTTCCAACAGCCTAAGGGAAAGCCATAGCCACACCGTCACAAACAGGAGCAGCACGGACACGGCAT
Y
CATCTTTGGCATCATACCAGACATTATTTCATTGGACTGATTCCCAGGCCCTGCTGCTCCCATCCCCACCCCAGATCGAATGAACTTGGCAGAAAGAAGA
Celera SNP ID:            hCV9710631
SNP Position Transcript:  2041
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1149, 639, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:8646):
ATTTTTCTGTCATCACTGTTCCCTCTCCTCCCGAGTGTGCATTCAGTTAATATAATCAGTTGCTTGCTTCTTTCAAAGTGCTTTGAAGGTCTTGAACTCA
Y
GTGTGAGCATCTTTATCAACTATCCCAATTGCATGTTCTCCATCACATATTCTCTTATTTGCTCTGTACCCCCTGAGAATATGTTTTAGAGATATTGGAA
Celera SNP ID:            hCV284926
SNP Position Transcript:  2795
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1149, None   



Context             (SEQ ID NO:8647):
GCGCTTGCGCTGACAGACGCAAGATGGCGGACAGTGCGGAACTAAAGCAAATGGTTATGAGCCTTAGAGTTTCTGAACTCCAAGTACTGTTGGGCTACGC
Y
GGGAGAAACAAGCACGGACGCAAACACGAACTTCTCACAAAAGCCCTGCATTTGCTAAAGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGGAAC
Celera SNP ID:            hCV25601851
SNP Position Transcript:  203
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1149, 26, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8648):
AGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGGAACTCTATAGGCGGCGGTTCCCACAGAAAATCATGACGCCTGCAGACTTGTCCATCCCCAA
Y
GTACATTCAAGTCCTATGCCAGCAACTTTGTCTCCATCTACCATTCCACAACTCACTTACGATGGTCACCCTGCATCATCGCCATTACTCCCTGTTTCTC
Celera SNP ID:            hCV25601852
SNP Position Transcript:  362
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1149, 79, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1149, 79, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8649):
GTCTACTATTTGATAAACAGTTGAAATTCAAGATGTGTTTGACCCTTAGTCATTTTTACTCTTTGGTTCTGAGTATACCTATTTTCTTAGCGTATCTGCC
Y
TGTTTATCTTTTTCTTCACCTTTTAACAAGTATGACATAGGAAAGTCATTTTTTTTTAGAATTCATGGATCAGTCTGATCTACTCTTATTCATAATGGAA
Celera SNP ID:            hCV29277110
SNP Position Transcript:  3318
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1149, None   



Gene Number:                 173
Celera Gene:                 hCG23811 - 83000099044099
Celera Transcript:           hCT2290256 - 83000099044118
Public Transcript Accession: NM_016166
Celera Protein:              hCP1879322 - 197000069412586
Public Protein Accession:    NP_057250
Gene Symbol:                 PIAS1
Protein Name:                protein inhibitor of activated STAT, 1;DDXBP1;GBP;GU/RH-II
Celera Genomic Axis:         GA_x5YUV32VYLS(24111286..24468764)
Chromosome:                  Chr15
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:453):
TGGAGTTGTTTCTGCGCGGAGCTTAGCCCTGGGGAGAGGAGGAAGCCCGGGCTGTGACCCCGGCCTTTCGGAGGGTGGTCTGCGTTTCCTCACTGGCCCC
TCCCCTTGTCTTCCAGATACCCTGTGTAACGAACTCGACCAGGAGCGGAAGGCGCGCTATGCCATCCAGCAGAAATTGAAAGGGCAGCTTCTCCAGCTCC
CAGTTCTGGCAGTGCATGGTAACCTTCAGTGCCCAGCTGACAGAAGCTTCCCTCAGCATCTTCTCTAAGTGGTGTGCCACTGGCAAGGCACCTGACCATG
AACGGCTTCCCCCAGCACCCCATCACCTGAAGAATTTGCAGCAAGTTTCAAGCAAATGGTTATGAGCCTTAGAGTTTCTGAACTCCAAGTACTGTTGGGC
TACGCYGGGAGAAACAAGCACGGACGCAAACACGAACTTCTCACAAAAGCCCTGCATTTGCTAAAGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTA
AGGAACTCTATAGGCGGCGGTTCCCACAGAAAATCATGACGCCTGCAGACTTGTCCATCCCCAAYGTACATTCAAGTCCTATGCCAGCAACTTTGTCTCC
ATCTACCATTCCACAACTCACTTACGATGGTCACCCTGCATCATCGCCATTACTCCCTGTTTCTCTTCTGGGACCTAAACATGAACTGGAACTCCCACAT
CTTACATCAGCTCTTCACCCAGTCCATCCGGATATAAAACTTCAAAAATTACCATTTTATGATTTACTGGATGAACTGATAAAACCCACCAGTCTAGCAT
CAGACAACAGTCAGCGCTTTCGAGAAACCTGTTTTGCATTTGCCTTGACACCACAACAAGTGCAGCAAATCAGTAGTTCCATGGATATTTCTGGGACCAA
ATGTGACTTCACAGTACAGGTCCAGTTAAGGTTTTGTTTATCAGAAACCAGTTGTCCACAAGAAGATCACTTCCCACCCAATCTTTGTGTGAAAGTGAAT
ACAAAACCTTGCAGCCTTCCAGGTTACCTTCCACCTACAAAAAATGGCGTGGAACCAAAGCGACCCAGCCGACCAATTAATATCACCTCACTTGTCCGAC
TGTCCACAACAGTACCAAACACGATTGTTGTTTCTTGGACTGCAGAAATTGGAAGAAACTATTCCATGGCAGTATATCTTGTAAAACAGTTGTCCTCAAC
AGTTCTTCTTCAGAGGTTACGAGCAAAGGGAATAAGGAATCCGGATCATTCTAGAGCTTTAATTAAAGAGAAGTTGACTGCGGATCCAGACAGTGAAATA
GCTACAACCAGCCTAAGGGTTTCTCTACTATGTCCACTTGGTAAAATGCGGCTGACAATTCCGTGTCGGGCCCTTACATGTTCTCATCTACAATGTTTTG
ACGCAACTCTTTACATTCAGATGAATGAGAAAAAACCAACCTGGGTTTGTCCTGTCTGTGATAAGAAGGCTCCATATGAACACCTTATTATTGATGGCTT
GTTTATGGAAATCCTAAAGTACTGTACAGACTGTGATGAAATACAATTTAAGGAGGATGGCACTTGGGCACCGATGAGATCAAAAAAGGAAGTACAGGAA
GTTTCTGCCTCTTACAATGGAGTCGATGGATGCTTGAGCTCCACATTGGAGCATCAGGTAGCGTCTCACCACCAGTCCTCAAATAAAAACAAGAAAGTAG
AAGTGATTGACCTAACCATAGACAGTTCATCTGATGAAGAGGAAGAAGAGCCATCTGCCAAGAGGACCTGTCCTTCCCTATCTCCCACATCACCACTAAA
TAATAAAGGCATTTTAAGTCTTCCACATCAAGCATCTCCAGTATCCCGCACCCCAAGCCTTCCTGCTGTAGACACAAGCTACATTAATACCTCCCTCATC
CAAGACTATAGGCATCCTTTCCACATGACACCCATGCCTTACGACTTACAAGGATTAGATTTCTTTCCTTTCTTATCAGGAGACAATCAGCATTACAACA
CCTCCTTGCTTGCCGCTGCAGCAGCAGCAGTTTCAGATGATCAAGACCTCCTACACTCGTCTCGGTTTTTCCCGTATACCTCCTCACAGATGTTTCTTGA
TCAGTTAAGTGCAGGAGGCAGTACTTCTCTGCCAACCACCAATGGAAGCAGTAGTGGCAGTAACAGCAGCCTGGTTTCTTCCAACAGCCTAAGGGAAAGC
CATAGCCACACCGTCACAAACAGGAGCAGCACGGACACGGCATYCATCTTTGGCATCATACCAGACATTATTTCATTGGACTGATTCCCAGGCCCTGCTG
CTCCCATCCCCACCCCAGATCGAATGAACTTGGCAGAAAGAAGAGAACTTTGTGCTCTGTTTTACCTTACTCTGTTTAGAAAAGTATACAAGCGTGTTTT
TTTTCCTTTTTTTAGGGAAAAAATTAAAAGAAATGTACAGAGAACAAAACTATATTTTCAGTTTTACTTTTGTATATAAATCTAAGACTGCCTGTGTGAT
AAAACACTTGTTTAAAAAAAAAAAGGAAAGAAAAGAAAAAAGAAAAACAAGCACCCACAAACCACCTTCAGTTCATTTTTTTCTGGATTCTGAAGATTTT
TCATTATTTGTCCTATGGTTTTGGTTTTATTTGACTTCGATGGCATTATTTTATTTGCAATAACAGAAAAGGAATTGCATGTATGAAGTTTTCAATCGTG
GGCTTTTCTTTGTTGTGGGGAGGGGGTCGGGGGATAGTTTGATTTCCATTTTCTGAAAACGACAGACTTGGATTCTGTTTGTGTGTGCATATTTTATCCA
GCCTTAAGTTATAAAGCTCATCTGTCCCGCTGCATTCCCTGTGTATTTTCAGGACATGGCTCGTGGGTGTGTGTGTTCATTGTGTGCGTCTGTATGTATT
TTTCTGTCATCACTGTTCCCTCTCCTCCCGAGTGTGCATTCAGTTAATATAATCAGTTGCTTGCTTCTTTCAAAGTGCTTTGAAGGTCTTGAACTCAYGT
GTGAGCATCTTTATCAACTATCCCAATTGCATGTTCTCCATCACATATTCTCTTATTTGCTCTGTACCCCCTGAGAATATGTTTTAGAGATATTGGAATA
AAGCTGTCTGGGTAAGGAGTAGGCTTAGCCGACCTATGAATAATACACTTTAGTCTAGTTCTTTATTCTAAATCTGGATTGCCAGTATTGTGTATTTAAA
CCAAGTCTGTGAATACCTGCTTTTTTTGGCCACAGAGTAACAAGTTTTCATGTAAGATCTTCATACCAAAGTAGGAAGTAAAAATAGCTTAGAAAGCTCT
GTCAGGTGTTTTGTGCAGCTGACAGAGGTAATGTTACATCACCTAAAAAAGAAAGATACACGGTCAGTTATCCTAAAAATAAATTGTTTGGAAAGTACAA
TGCACCACATTTTTGTAGAAGTCTACTATTTGATAAACAGTTGAAATTCAAGATGTGTTTGACCCTTAGTCATTTTTACTCTTTGGTTCTGAGTATACCT
ATTTTCTTAGCGTATCTGCCYTGTTTATCTTTTTCTTCACCTTTTAACAAGTATGACATAGGAAAGTCATTTTTTTTTAGAATTCATGGATCAGTCTGAT
CTACTCTTATTCATAATGGAACATGTAAATATACTGAAAACTGTTTTTCAGGAGAGAAATATGAGTTGGAGGGAAGGAAAAGTGGTTCTACTWATGTTCC
AAAATCCTCATCAGAGAAGGTATGATGTTCTCAGGTGTGGAAAATATTTTTTAGTTGATTGAGAATGCAGGTTTAACAGAAGAGATAAGGGGCATAATGA
CTGCTGGTTTTCCAGACTGGATTTTCCTACCGCAACTATTAATGTTCTCAGAGTTGATGAGGACCACCTTTGTGTATACACTTGTAGTTTTAAACCTTGC
ATTGGTAACAAAATGATCAACTTTAATCCAGGTAGAATTCAAGATGGCTGTACTTCAGTTGTATGATAAAATTAATGGTTCTCATGACTTGTGTGGCATC
TAAAAATAATGTTTTTATAGCATCTCTCTGCCACYAAATTGTTGACTTGAATTTTGGGAAAAAAAAAAGTTGGTGTTGATATGTATATGTGTGTGTGTAT
ATATGTATTTATAAACAAGTGTGTTTGAGTAACAAGTGAGTTTCATAGTCTTCCCCTACGCATGTGTATTCCACACACAAATGGCTGAGTTATAGTCATA
AAACAATTTGCAATAAAAAAAAAACCAAAACAGATTGTCAGTTAACCAGGAAACAGTTAATGTTTTTTAATGAATCTGGCATTATAGTGAGCAAATGTCG
TATTAATTTAGGCTAATTTCTAATACTACCATAATTTGTGTCTAAATTTCTGTTGGGGTAGAAATTACTAAAATTGTGGGGAGTTTTTTCTGATTTTTAC
ATTGCTTTAGGAAACATTTTTACTAATTCAGCTGTCTTAGGTAAAATGAATAGTTTTCTTCCTGTTTTTTTATGTGTCATTGTTAGTGGTCTCAGAATTC
TGATCAGTAACTTTGTGTATGATGCTGAATTACAAACCGTTTGAATGATCCAGTTGAAAACGTATCCCTCTACTTTCTTCAGTTGTAGAAAAGGTTAATT
TCCCTCAGTGTCCCACATTATACCAACCTAAGAGAAGAACAGGTAATAGGGAGAAATAAACATACGGTGGTTTCAGTGGTTTTGGTCATGTGTCCACAGG
AGAAACTAACCATTCAGTTGTCTTAATTTTAGTTCGTTCTACCCTGTGAGGAGTTTGTTTCCATCAGTTGTTGACTTTCCAAAATGTTGCATTAAGTAAT
AGTTGTCACTCTGTTGGTCTCATGGTCAATATCAATCAGACTTTCATGATCTCTACTAATTATTAGTAGAGTCCTGTACTATGTCTGTAACTACTAAGTT
TAAAGAAAAGCACATAGTCACTTCATCTCTTTTTTTCTTAGCCTACGCTCACTCCCCAACCCATCCCAACATTGACATGCTATCTGTGGACAAATAGCAG
TTCTCAGAATCTAGTCAAGTTGCCATCATCCCCCTTGCCTTGGCCGTTCATAGTAGGTATGCATATGTTTGTTTCTGTACAGTACTGTGTGTGTGTGTGT
ATATATATATACATCTGTATGCACACATCTTTGATAAAATAGCTATTTGACTAGCAGGGTTAAAGTGGCTTTTAATTACTTCGTGAGTGTTATTGGATAC
ATCTTAAAAAAAAAAAATCTGAACCAGAACCATGCCATACTTGGTTGACTATTTTGAGCATTAAAATTGCTTTACTAATTATTTAGACATGATCACAATT
CTGTATCTTTACTGAGGAAAGATTCACGTAAGCTCTGAAAAATCGGATTCTTTGGCAGATTTTCCTTTGAGTCAAGTGTCTGAAATGGAGTGAAAATATA
TCCTAACTAAATTAATGTGGAAAGAGCATTTTTTTAGACAATTTCAATTTTAAACACATAAAACTTTCAAGATCTTCAGGACTTTTTAAAGCACATTTGA
AATTATTTTAGTAAGAATTTTGTTTTATCAATAGATGTTGAATTCTGTTTTTTAATTAAATACAAAGCTTAGATTTCAGAAAGAGAGGGAAAATAGCTGG
TGGTCCCAGAGTGTGCTGCTGTTAATTGTTTAACAAAGGGGAAAATGTACATAAACAGATAAAGTTACCATAAATTCCATGAACTTAAATCTGTGATTCA
TTGCCTTAAAACTTTCTCTCTTAGAATTTCCATACCGCATGCCAAACCAGTAAAATGGCTTTTAAAAATGTATAGTAGACAATGTCAGTTTGTATAAAAG
TACCAAGTGAAAATATTTATTACATGCATTGGAAAAAAATTGTTTACCTATTGAATGTTACCTGTTTATGTAGAGCTCTTTAGATGTAATAAAAGAAAAG
CCTTCAGTTAATTTGTCTTCTGTAAAATAACACTGCTGGATGTTCAAGGGGACAATCCCTATGAGACAAGTGATAATGGTTTGTGCTTCCAAAGCACCTT
TCATCCAGAGATTTCAAAGCATGACAAGTAACTAACTAATTTTCTTGCAGCATGCTTTGAGGTAAGTAATGAATATAGCCATCATTTCCCTTTCTTGTTG
AAATATGGCTAACTCTTTAATAAATCACAGCATCTGTTTAGTATCTGCAGTTTGAATGCTAAGAGCACCGTGGCCTTCTTGTAAACAACACTAGGTGCTA
GAGAAACCAGCTGGAATTTCAGGAATGAGCTTGAAACCAGGACCAGGAGTAAGGTAACAGCCCTTCCTCGGGTAGAGGTTTGAATCAAACACTTAATAGG
ATCTTAGACTCTGGACCACTGAATCCCTTAATGAGCAGGGAGTCCGTGAAGAGGAGCCCCAGGTTCTAATGACCATTCCACACCAACTGTGTGTTTTTGG
CAAGTTATATTTCAGATTCCTGTTAGGCAAATGAGATTCATAAAACTTGCTTTAAAACCATACTGGGACTATTCAGTGATAAATATAGACATAGAAAAGC
TTTGACGGAAAGTACCCTCATTTATTATATCCAGAACTTGCTCTTCCTGTGCCATCTAAATCATTGGTATCTATCTCCCATCTAATCTTTGGTATTCCAG
GTTGGCTGTGCAGGATTTACTTCCTAATGTCCATGACTGGAGCTCAAAAGAACTGTGGGCCTAGGACCTTTGAGCTTTGCCTGAAAGTGACAGCAGTTCT
CTCGGCGGGGCCAGCATCTAACCGGCCCTCTGGTGGATTTACCATGAAGGTAATGAAGTTTAAGCACCAGGACCCTTCACTTGTTCTGGTCCTAGGAGCA
GCCCCAGAAATTCTGCATTTCTGTTTTTGTATTCTTAAGGCAGCCAAATCTCGTAAACCTCAGACCCCACAAAACATCTGCTCCTACACTGTGTGGACCT
GGGCTTCCCAGCCAGATGGTCACAACTTCACCTAGTTGGCATTTGGGCCATTTATTTACCCTCACCCCACAAAACTCTTTGGCTCCTAGGAATTCCTCCT
CTCCTTGCAGTTATGCTTGGGGAAATGAGAGTCTCCTTCCTCAGGGCCTTGTTTGGGTCTGAAGCCACACAGCATCGTTGAGACAGTTGCACTAACACTA
CAACTCTTGTTCCCTGCAGTTTTCCCTGTGCCCGGTGCCTAGTGAAAGATTTGTGTCTTGTACATCCTCCCAAAAGACACATCCCATTTGATTTGGTTTT
CTTCTACTTTAGCCACTGTGGTACTACTAGACAAAGCCACAGCCCAGAGAACCCACTTTTGATACATACATGGATGCAAATCTTTGTACTTGAAGCCCTG
CACCCCTACCTGTGTTGGTGTGGTACTCCAGCCCTTTTAGGACTGTGCTGGCACTACGAATGATCCAGATTTGACAAGTGTATGGCACCTCTGAATCTCT
GGCAGCACCAACCTGGCACCTTCTAGCTGTGTAACTCACTCAAAGCCACTCCAGCTGGATGGACTCCCAGAAAGCCTAGTGCTCCTACTACTGTTTTCCA
GGGCTGTTGTACCCTGGCCATTGCTGGTTACATCCCCTTATTTCTCTCCGTAAGTCCTGGGGAGGTGGCTTAAGGCAATGACCAGTGTGGGCCACTTGAG
CAGACCATCCCGGAACCTCTCTGCCTGTTAACAGAGCCCAGGGAACAGCTCGGAATTCTCACAGCATTGGAAGCCCCCTTCTTGAGCTCTGCAAGGCCAG
TCAATTTAGCAGCTCACATCTGGTTTCCTTTGGTGTGGGGTGTAAAGTAGATCGCTCTTCCTGCTCTCAGCTGATGCTGCCTCATTGTAGCATGTGTTTT
CACTCTAGTGTTTTCACTCTACACTCTGTGTTTATGAATGAATAGCCTGAGCTATGTCACTATATCTGTTGAGATGGAAATGAGAATTTGTAAATGGGCC
TCTGGCACTGCAAGAATTGTTGTCATAAGTGTTACAGCTTTCTGTTCATTGCTGCTTCTCAGCTAGCACTGGCTTCATCTTGGAAAATCTTGGAAATATG
GAAGATGGTTCTAGCCCCCAAATACAGAATAAGTCTCTTGGTAGATTGCCCTTAAGTCATCAGCTCAATCCTTCCTCAACAGGCTCCATGAGGTAAGAAG
TGGGAATCCAGCTTGTGTGGGGGGGCTTTGAGGAGTGAAATGA

Protein Sequence    (SEQ ID NO:1150):
MVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLL
PVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSC
PQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSR
ALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKE
DGTWAPMRSKKEVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPHQASPVSRTP
SLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTSLPTTNGSSS
GSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD


SNP Information

Context             (SEQ ID NO:8650):
AGTCTGATCTACTCTTATTCATAATGGAACATGTAAATATACTGAAAACTGTTTTTCAGGAGAGAAATATGAGTTGGAGGGAAGGAAAAGTGGTTCTACT
W
ATGTTCCAAAATCCTCATCAGAGAAGGTATGATGTTCTCAGGTGTGGAAAATATTTTTTAGTTGATTGAGAATGCAGGTTTAACAGAAGAGATAAGGGGC
Celera SNP ID:            hCV1713056
SNP Position Transcript:  3693
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|A,4)   total(A,4|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1150, None   



Context             (SEQ ID NO:8651):
GAATTCAAGATGGCTGTACTTCAGTTGTATGATAAAATTAATGGTTCTCATGACTTGTGTGGCATCTAAAAATAATGTTTTTATAGCATCTCTCTGCCAC
Y
AAATTGTTGACTTGAATTTTGGGAAAAAAAAAAGTTGGTGTTGATATGTATATGTGTGTGTGTATATATGTATTTATAAACAAGTGTGTTTGAGTAACAA
Celera SNP ID:            hCV9710642
SNP Position Transcript:  4035
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1150, None   



Context             (SEQ ID NO:8652):
TCCTTCCTCAGGGCCTTGTTTGGGTCTGAAGCCACACAGCATCGTTGAGACAGTTGCACTAACACTACAACTCTTGTTCCCTGCAGTTTTCCCTGTGCCC
G
GTGCCTAGTGAAAGATTTGTGTCTTGTACATCCTCCCAAAAGACACATCCCATTTGATTTGGTTTTCTTCTACTTTAGCCACTGTGGTACTACTAGACAA
Celera SNP ID:            hCV26911669
SNP Position Transcript:  7134
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,7)   total(G,7|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1150, None   



Context             (SEQ ID NO:8653):
GGAAGCAGTAGTGGCAGTAACAGCAGCCTGGTTTCTTCCAACAGCCTAAGGGAAAGCCATAGCCACACCGTCACAAACAGGAGCAGCACGGACACGGCAT
Y
CATCTTTGGCATCATACCAGACATTATTTCATTGGACTGATTCCCAGGCCCTGCTGCTCCCATCCCCACCCCAGATCGAATGAACTTGGCAGAAAGAAGA
Celera SNP ID:            hCV9710631
SNP Position Transcript:  2244
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1150, 630, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:8654):
ATTTTTCTGTCATCACTGTTCCCTCTCCTCCCGAGTGTGCATTCAGTTAATATAATCAGTTGCTTGCTTCTTTCAAAGTGCTTTGAAGGTCTTGAACTCA
Y
GTGTGAGCATCTTTATCAACTATCCCAATTGCATGTTCTCCATCACATATTCTCTTATTTGCTCTGTACCCCCTGAGAATATGTTTTAGAGATATTGGAA
Celera SNP ID:            hCV284926
SNP Position Transcript:  2998
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,6)      total(C,6|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1150, None   



Context             (SEQ ID NO:8655):
CTTCCCCCAGCACCCCATCACCTGAAGAATTTGCAGCAAGTTTCAAGCAAATGGTTATGAGCCTTAGAGTTTCTGAACTCCAAGTACTGTTGGGCTACGC
Y
GGGAGAAACAAGCACGGACGCAAACACGAACTTCTCACAAAAGCCCTGCATTTGCTAAAGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGGAAC
Celera SNP ID:            hCV25601851
SNP Position Transcript:  406
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1150, 17, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:8656):
AGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGGAACTCTATAGGCGGCGGTTCCCACAGAAAATCATGACGCCTGCAGACTTGTCCATCCCCAA
Y
GTACATTCAAGTCCTATGCCAGCAACTTTGTCTCCATCTACCATTCCACAACTCACTTACGATGGTCACCCTGCATCATCGCCATTACTCCCTGTTTCTC
Celera SNP ID:            hCV25601852
SNP Position Transcript:  565
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1150, 70, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1150, 70, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:8657):
GTCTACTATTTGATAAACAGTTGAAATTCAAGATGTGTTTGACCCTTAGTCATTTTTACTCTTTGGTTCTGAGTATACCTATTTTCTTAGCGTATCTGCC
Y
TGTTTATCTTTTTCTTCACCTTTTAACAAGTATGACATAGGAAAGTCATTTTTTTTTAGAATTCATGGATCAGTCTGATCTACTCTTATTCATAATGGAA
Celera SNP ID:            hCV29277110
SNP Position Transcript:  3521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1150, None   



Gene Number:                 174
Celera Gene:                 hCG23814 - 83000099046854
Celera Transcript:           hCT14926 - 83000099046855
Public Transcript Accession: 
Celera Protein:              hCP41200 - 197000069412576
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VYLS(24467548..24481547)
Chromosome:                  Chr15
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:454):
ACAGAGGCGGTCAGGAAAGGAGCGGGGAGGGGAGAGTGGGGCACAGGCAGCGCCTCCCGTCTATGCGCCTGTGTGCAAAGTGGCACAATGCCCCCCTTCC
TATTGGCAGTGCAGCCCCTGGCCAGCAACCACTCGCACCTGGGCTGGGGGCCTTTGTGTAGGGCACACCTGTGCAGCCACACCTACTTGTAGAGCCTCAT
AGACTCAGCTGTGGACAAAAGCCTCACGCCCCAAACAGGGAAATGGGATCTCAAGGGGAAGAAGCTGGGGAGGCCTCACACCCTGCCCCCATTTCCTCCT
ATGTGGGGGAGGGGAGCAGCACGAACTCCTGAAGACTTGGGAGCGTCAGCAGCTTCTGCGGAAGGGGTGGGGCTGAGGGTGGAGAGAGGAAGGGAAGGAA
GAAAAGGGGAGCCTTCCTGGCCAGGGTAACCGGCACTAAGAGGCCTCACTCCAAGCCCCCGAGGAGCCTGTGGTGGGGCTGGAGACCCGGCTCAGGCCCC
TCCACCACCCTTAAAGTCCTCAGAAGGTGGGAACTGAACTGGCACAGGMTGGGAACCGGCTGTGCGCTGGCCACTTGATTTTGCCAGCTGCCCTGTAATT
CAGCTGGTGAGGAAACTGAGGCACAGACTGAGGTAGAATGATTCGCCAGTCACTCAGCAAGTCAGCAGACGGGGAGGACTGAATCCCAGCCTGAGAGCAC
CGAAGCTTGTATCCCTGCAATACCGAGCCCCAAGCCTGCGAGCCCCGGTGCCCATCTCTGAGTTRGGCCGTCTTGGAAGGGTTCCCTTCCTCCTACAAGA
TGGTGTGTGAGGAGCCTTCAATACGACCCGGGGTGTAAAGTGTCCAACTCTAGTAGGGGCCTGATGGCATCCCCGCCGAGTCCCAGGAGAGAGAGAGAAG
ACCCCTTCCTGGAGTCCAGGGCTCCCGGGAAGAAACACTGGCATTTGTCCCTTTGCTTCGGCTTCTGGAGGCAGAGACTCTGAGCCCAGGGAGAGCCTTC
TGCAGCCCCATTTCCTCAAAAATCCAACCTGCCCAGGTGGCGGGTCATGAGCTGTGCTCAGGAAGCTGGAATCTGACCCTGGTGGCGTCGGGCCCAGTCT
CCATGGCAGCCGAGCATTTATTACCCGGGCCTCCACCCAGCTTGGCAGACTTTAGACTTGAGGCTGGAGGAAAGGGAACTGAAYGCGGTTCTGGGAGCAG
CAAGCCCACGGGTAGCAGCYGAGGCCCCAGAATGGCCAAGTTTCTTTCCCAAGACCAAATTAATGAGTACAAGGAATGCTTCTCCCTGTATGACAAGCAG
CAGAGGGGGAAGATAAAAGCCACCGACCTCATGGTGGCCATGAGGTGCCTGGGGGCCAGCCCGACGCCAGGGGAGGTGCAGCGGCACCTGCAGACCCACG
GGATAGACGGAAATGGAGAGCTGGATTTCTCCACTTTTCTGACCATTATGCACATGCAAATAAAACAAGAAGACCCAAAGAAAGAAATTCTTCTAGCCAT
GTTGATGGTGGACAAGGAGAAGAAAGGTTACGTCATGGCGTCCGACCTGCGGTCAAAACTCAMGAGTCTGGGGGAGAAGCTCACCCACAAGGAAGTGGAT
GATCTCTTCAGGGAAGCAGATATCGAACCCAATGGCAAAGTGAAGTATGATGAATTTATCCACAAGATCACCCTTCCTGGACGGGACTATTGAAGGAGGA
GAATGGGAGAGCCTCCCCTGGGCCTGAAAACTTGGAGCAATTAATTTTTTTTAAAAAGTGTTCTTTTCACTTGGGAGAGATGGCAAACACAGTGGCAAGA
CAACATTACCCAACTATAGAAGAGAGGCTAACTAGCAACAATAATAGATGATTTCAGCCATGGTATGAGTAGATCTTTAATAAAAGATTTGTAYTGATTT
TATTAACTACCGTGAGTCCGGCCCTTTCAAGCATGGAAGGAGCCTGCGGTTTGGAGTCTGGCCTGGGTTCCAGTCCTGGCTCTGCTGCTTCCCACTGTGA
CTTTGGGCAAATCATTTCACTCCTCAAAGCCCCCCCACACAAGCTGGATTCCCACTTCTTACCTCATGGAGCCTGTTGAGGAAGGATTGAGCTGATGACT
TAAGGGCAATCTACCAAGAGACTTATTCTGTATTTGGGGGCTAGAACCATCTTCCATATTTCCAAGATTTTCCAAGATGAAGCCAGTGCTAGCTGAGAAG
CAGCAATGAACAGAAAGCTGTAACACTTATGACAACAATTCTTGCAGTGCCAGAGGCCCATTTACAAATTCTCATTTCCATCTCAACAGATATAGTGACA
TAGCTCAGGCTATTCATTCATAAACACAGAGTGTAGAGTGAAAACACTAGAGTGAAAACACATGCTACAATGAGGCAGCATCAGCTGAGAGCAGGAAGAG
CGATCTACTTTACACCCCACACCAAAGGAAACCAGATGTGAGCTGCTAAATTGACTGGCCTTGCAGAGCTCAAGAAGGGGGCTTCCAATGCTGTGAGAAT
TCCGAGCTGTTCCCTGGGCTCTGTTAACAGGCAGAGAGGTTCCGGGATGGTCTGCTCAAGTGGCCCACACTGGTCATTGCCTTAAGCCACCTCCCCAGGA
CTTACGGAGAGAAATAAGGGGATGTAACCAGCAATGGCCAGGGTACAACAGCCCTGGAAAACAGTAGTAGGAGCACTAGGCTTTCTGGGAGTCCATCCAG
CTGGAGTGGCTTTGAGTGAGTTACACAGCTAGAAGGTGCCAGGTTGGTGCTGCCAGAGATTCAGAGGTGCCATACACTTGTCAAATCTGGATCATTCGTA
GTGCCAGCACAGTCCTAAAAGGGCTGGAGTACCACACCAACACAGGTAGGGGTGCAGGGCTTCAAGTACAAAGATTTGCATCCATGTATGTATCAAAAGT
GGGTTCTCTGGGCTGTGGCTTTGTCTAGTAGTACCACAGTGGCTAAAGTAGAAGAAAACCAAATCAAATGGGATGTGTCTTTTGGGAGGATGTACAAGAC
ACAAATCTTTCACTAGGCACCGGGCACAGGGAAAACTGCAGGGAACAAGAGTTGTAGTGTTAGTGCAACTGTCTCAACGATGCTGTGTGGCTTCAGACCC
AAACAAGGCCCTGAGGAAGGAGACTCTCATTTCCCCAAGCATAACTGCAAGGAGAGGAGGAATTCCTAGGAGCCAAAGAGTTTTGTGGGGTGAGGGTAAA
TAAATGGCCCAAATGCCAACTAGGTGA

Protein Sequence    (SEQ ID NO:1151):
MAAEHLLPGPPPSLADFRLEAGGKGTERGSGSSKPTGSSRGPRMAKFLSQDQINEYKECFSLYDKQQRGKIKATDLMVAMRCLGASPTPGEVQRHLQTHG
IDGNGELDFSTFLTIMHMQIKQEDPKKEILLAMLMVDKEKKGYVMASDLRSKLTSLGEKLTHKEVDDLFREADIEPNGKVKYDEFIHKITLPGRDY


SNP Information

Context             (SEQ ID NO:8658):
TTGTCTAGTAGTACCACAGTGGCTAAAGTAGAAGAAAACCAAATCAAATGGGATGTGTCTTTTGGGAGGATGTACAAGACACAAATCTTTCACTAGGCAC
C
GGGCACAGGGAAAACTGCAGGGAACAAGAGTTGTAGTGTTAGTGCAACTGTCTCAACGATGCTGTGTGGCTTCAGACCCAAACAAGGCCCTGAGGAAGGA
Celera SNP ID:            hCV26911669
SNP Position Transcript:  3021
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|C,7)   total(C,7|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1151, None   



Context             (SEQ ID NO:8659):
CTCCAAGCCCCCGAGGAGCCTGTGGTGGGGCTGGAGACCCGGCTCAGGCCCCTCCACCACCCTTAAAGTCCTCAGAAGGTGGGAACTGAACTGGCACAGG
M
TGGGAACCGGCTGTGCGCTGGCCACTTGATTTTGCCAGCTGCCCTGTAATTCAGCTGGTGAGGAAACTGAGGCACAGACTGAGGTAGAATGATTCGCCAG
Celera SNP ID:            hCV29277113
SNP Position Transcript:  549
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1151, None   



Context             (SEQ ID NO:8660):
ATTACCCGGGCCTCCACCCAGCTTGGCAGACTTTAGACTTGAGGCTGGAGGAAAGGGAACTGAACGCGGTTCTGGGAGCAGCAAGCCCACGGGTAGCAGC
Y
GAGGCCCCAGAATGGCCAAGTTTCTTTCCCAAGACCAAATTAATGAGTACAAGGAATGCTTCTCCCTGTATGACAAGCAGCAGAGGGGGAAGATAAAAGC
Celera SNP ID:            hCV25961880
SNP Position Transcript:  1220
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,34|T,2)   total(C,67|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1151, 40, (R,CGA)   (X,TGA)   



Context             (SEQ ID NO:8661):
AAACAAGAAGACCCAAAGAAAGAAATTCTTCTAGCCATGTTGATGGTGGACAAGGAGAAGAAAGGTTACGTCATGGCGTCCGACCTGCGGTCAAAACTCA
M
GAGTCTGGGGGAGAAGCTCACCCACAAGGAAGTGGATGATCTCTTCAGGGAAGCAGATATCGAACCCAATGGCAAAGTGAAGTATGATGAATTTATCCAC
Celera SNP ID:            hCV15969665
SNP Position Transcript:  1563
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,62|C,1431)   total(A,62|C,1431) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1151, 154, (K,AAG)   (T,ACG)      



Context             (SEQ ID NO:8662):
GGCGTCGGGCCCAGTCTCCATGGCAGCCGAGCATTTATTACCCGGGCCTCCACCCAGCTTGGCAGACTTTAGACTTGAGGCTGGAGGAAAGGGAACTGAA
Y
GCGGTTCTGGGAGCAGCAAGCCCACGGGTAGCAGCCGAGGCCCCAGAATGGCCAAGTTTCTTTCCCAAGACCAAATTAATGAGTACAAGGAATGCTTCTC
Celera SNP ID:            hCV27490914
SNP Position Transcript:  1184
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1151, 28, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:8663):
AGGAGCGGGGAGGGGAGAGTGGGGCACAGGCAGCGCCTCCCGTCTATGCGCCTGTGTGCAAAGTGGCACAATGCCCCCCTTCCTATTGGCAGTGCAGCCC
C
TGGCCAGCAACCACTCGCACCTGGGCTGGGGGCCTTTGTGTAGGGCACACCTGTGCAGCCACACCTACTTGTAGAGCCTCATAGACTCAGCTGTGGACAA
Celera SNP ID:            hCV11477620
SNP Position Transcript:  118
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|-,6)   total(C,1|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1151, None   



Context             (SEQ ID NO:8664):
GGCAAGACAACATTACCCAACTATAGAAGAGAGGCTAACTAGCAACAATAATAGATGATTTCAGCCATGGTATGAGTAGATCTTTAATAAAAGATTTGTA
Y
TGATTTTATTAACTACCGTGAGTCCGGCCCTTTCAAGCATGGAAGGAGCCTGCGGTTTGGAGTCTGGCCTGGGTTCCAGTCCTGGCTCTGCTGCTTCCCA
Celera SNP ID:            hCV25959943
SNP Position Transcript:  1894
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,33)   caucasian(T,30)   total(C,1|T,63)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1151, None



Context             (SEQ ID NO:8665):
GCAGACGGGGAGGACTGAATCCCAGCCTGAGAGCACCGAAGCTTGTATCCCTGCAATACCGAGCCCCAAGCCTGCGAGCCCCGGTGCCCATCTCTGAGTT
R
GGCCGTCTTGGAAGGGTTCCCTTCCTCCTACAAGATGGTGTGTGAGGAGCCTTCAATACGACCCGGGGTGTAAAGTGTCCAACTCTAGTAGGGGCCTGAT
Celera SNP ID:            hCV232629
SNP Position Transcript:  765
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,18)   caucasian(A,17|G,19)   total(A,33|G,37)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1151, None

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1151, None   



Gene Number:                 175
Celera Gene:                 hCG24006 - 66000115786940
Celera Transcript:           hCT2270665 - 66000115787007
Public Transcript Accession: NM_012079
Celera Protein:              hCP1872018 - 197000069405282
Public Protein Accession:    NP_036211
Gene Symbol:                 DGAT1
Protein Name:                diacylglycerol O-acyltransferase homolog 1 (mouse);ARGP1;DGAT
Celera Genomic Axis:         GA_x5YUV32W0T1(753101..765516)
Chromosome:                  Chr8
OMIM number:                 140580
OMIM Information:            HEAT-SHOCK TRANSCRIPTION FACTOR 1;HSF1


Transcript Sequence (SEQ ID NO:455):
CAGGCCCCGCCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGC
CGACGGGCCYGACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGA
GGTGGGGCCGCGCGCCTCGGGCGCTACGAACCCGGCAGGCCCACGCTTGGCTGCGGCCGGGTGCGGGCTGAGGCCATGGGCGACCGCGGCAGCTCCCGGC
GCCGGAGGACAGGGTCGCGGCCCTCGAGCCACGGCGGCGGCGGGCCTGCGGCGGCGGAAGAGGAGGTGCGGGACGCCGCTGCGGGCCCCGACGTGGGAGC
CGCGGGGGACGCGCCAGCCCCGGCCCCCAACAAGGACGGAGACGCCGGCGTGGGCAGCGGCCACTGGGAGCTGAGGTGCCATCGCCTGCAGGATTCTTTA
TTCAGCTCTGACAGTGGCTTCAGCAACTACCGTGGCATCCTGAACTGGTGTGTGGTGATGCTGATCTTGAGCAATGCCCGGTTATTTCTGGAGAACCTCA
TCAAGTATGGCATCCTGGTGGACCCCATCCAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGT
CTTTGCTGTGGCTGCATTCCAGGTTGAGARGCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATT
CTGTGTTTCCCAGCGGCTGTGGTCTTACTGGTTGAGTCTATCACTCCAGTGGGCTCCCTGCTGGCGCTGATGGCGCACACCATCCTCTTCCTCAAGCTCT
TCTCCTACCGCGACGTCAACTCATGGTGCCGCAGGGCCAGGGCCAAGGCTGCCTCTGCAGGGAAGAAGGCCAGCAGTGCTGCTGCCCCGCACACCGTGAG
CTACCCGGACAATCTGACCTACCGCGATCTCTACTACTTCCTCTTCGCCCCCACCTTGTGCTACGAGCTCAACTTTCCCCGCTCTCCCCGCATCCGGAAG
CGCTTTCTGCTGCGACGGATCCTTGAGATGCTGTTCTTCACCCAGCTCCAGGTGGGGCTGATCCAGCAGTGGATGGTCCCCACCATCCAGAACTCCATGA
AGCCCTTCAAGGACATGGACTACTCACGCATCATCGAGCGCCTCCTGAAGCTGGCGGTCCCCAATCACCTCATCTGGCTCATCTTCTTCTACTGGCTCTT
CCACTCCTGCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAG
AACTGGAASATCCCTGTGCACAAGTGGTGCATCAGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGATGGCCAGGACAGGGGTGTTCC
TGGCCTCGGCCTTCTTCCACGAGTACCTGGTGAGCGTCCCTCTGCGAATGTTCCGCCTCTGGGCGTTCACGGGCATGATGGCTCAGATCCCACTGGCCTG
GTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAATWGCCGTCCTCATGTACGTCCACGAC
TACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCAMACCCGCTGCCAGAGCCCACC
TCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCCCTATGGGGCTCTGTCCTGCA
CCCCTCAGGGATGGCGACAGCAGGCCAGACACAGTCTGATGCCAGCTGGGAGTCTTGCTGACCCTGCCCCGGGTCCGAGGGTGTCAATAAAGTGCTGTCC
AGTGACCTCTTCAGCCTGCCAGGGGCCTGGGGCCTGGTGGGGGGTATGGCCACACCCACAAGGGCGAGTGCCAGAGCTGTGTGGACAGCTGTCCCAGGAC
CTGCCGGGGAGCAGCAGCTCCACTGCAGCAGGGCGGGCATGGCCGGTAGGGGGAGTGCAAGGCCAGGCAGACGCCCCCATTCCCCACACTCCCCTACCTA
GAAAAGCTCAGCTCAGGCGTCCTCTCCTGGTGCTACTCCTGCTGGGTGTGCGGGAATCGGCACTCTGGCCCTCAGTGCAGGATGGTCAACTTGCACCCAC
CGTGCTCAGCTTCAGCTTGGGAAGAGGTCGGCCCTGGGTTTGCGGGAAGTGGGCTCCAGCCAGGATGGCCCAGGGATGGGCAGTCCACAGGGCCTTTCTG
GTGTGGGTCTGGTGAGCCGAGGGGCTACGGTACACAATGGCTATGTCCATGGCTATTCGCCTTGGGGCAGGGCTCGGTTTGGCAGCCTCTTTCCTTCACT
TGGAACCTGGGCAGCCAGGTGGGCTGGTGGCTCTCAGCTGCCCTCCACGAGGTTGGGGCACCCCTGATCCCCAGGCCTGCCTTGCCCTCTGCTCTTCTGG
CACCAGGCTGGGCAGTGCAGACAGCGCAGCCCTGCAGCCTTCAGGACACCTTGTTCCCAGGCCCTGCAATCCACCAAGCTGGATAGATGGGGCCCCCCTT
GATGGTAGCGGGAGGTCAGGGGTAACCCCAGGGCCCTGCTGCTGCCTTACCTTGCTGGGGTGACTGCTTGATTAAAGACCCCAAGACTGGACCAGGCCCT
GGTGTCCCCAGACCTGCAGCTATGGCCCAACAAGGCAGGTGTTTGAGGAGGCCCTGCACAGGGTCCCAGGACTGCACCAGGGGCCTCATCAGCAACCTGC
TGAACTGGTGGTGTGAGGGGAGGGTGGGCTCCCTTGGTGGTATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGC
CCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGGRATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGT
TGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCARGCCCCCTTCCCTTCCTCCACCAGGCTG
AGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAAGACAGTGTGCCCGCCCCGCATCACCTG
TCCGAGTGCGAACACCTTGGGAAGGGGGTTCCTGGTGGTCCTGTGACAACCAGAGACCCCCAGGGCCAAGGAGGCCACTGCAGCCYGGCCCTTCTGTGCC
CTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTG
CCTGTCTTGTCCGTCCATCCACTGKGTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTA
TGAACAACCTGCAGGGTCAGTCCAGGTGTGGCTGTGAAGCCCCAACCAAACCACAGGACACGGGGTTGGGGGAAGGCAGACTGGGGCTATGGCGGCCGAC
CCACCAGTGCCCAAGACCGCGAGGCTGCCCTGCCTCCCCAAGA

Protein Sequence    (SEQ ID NO:1152):
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSN
ARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMA
HTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSK
WMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA


SNP Information

Context             (SEQ ID NO:8666):
GTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCA
M
ACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCC
Celera SNP ID:            hCV8332399
SNP Position Transcript:  1780
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8667):
ATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGG
R
ATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAA
Celera SNP ID:            hCV28959016
SNP Position Transcript:  3042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8668):
TGATGGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAAT
W
GCCGTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACC
Celera SNP ID:            hCV25602578
SNP Position Transcript:  1676
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,1)   caucasian(A,40)   total(A,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1152, 467, (I,ATA)   (I,ATT)   



Context             (SEQ ID NO:8669):
CCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGCCGACGGGCC
Y
GACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGAGGTGGGGCCG
Celera SNP ID:            hCV28949912
SNP Position Transcript:  110
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8670):
ATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCA
R
GCCCCCTTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAA
Celera SNP ID:            hCV2158038
SNP Position Transcript:  3173
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8671):
GCCCCGCATCACCTGTCCGAGTGCGAACACCTTGGGAAGGGGGTTCCTGGTGGTCCTGTGACAACCAGAGACCCCCAGGGCCAAGGAGGCCACTGCAGCC
Y
GGCCCTTCTGTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTG
Celera SNP ID:            hCV2158039
SNP Position Transcript:  3386
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8672):
CACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCATCCACTG
K
GTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTCAGTCCAG
Celera SNP ID:            hCV8332400
SNP Position Transcript:  3525
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1152, None   



Context             (SEQ ID NO:8673):
GCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAGAACTGGAA
S
ATCCCTGTGCACAAGTGGTGCATCAGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGATGGCCAGGACAGGGGTGTTCCTGGCCTCGG
Celera SNP ID:            hCV8332392
SNP Position Transcript:  1409
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1152, 378, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:8674):
CAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGTCTTTGCTGTGGCTGCATTCCAGGTTGAGA
R
GCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATTCTGTGTTTCCCAGCGGCTGTGGTCTTACTG
Celera SNP ID:            hCV25602572
SNP Position Transcript:  730
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1152, 152, (K,AAG)   (R,AGG)   



Gene Number:                 175
Celera Gene:                 hCG24006 - 66000115786940
Celera Transcript:           hCT1961865 - 66000115786987
Public Transcript Accession: NM_012079
Celera Protein:              hCP1773755 - 197000069405281
Public Protein Accession:    NP_036211
Gene Symbol:                 DGAT1
Protein Name:                diacylglycerol O-acyltransferase homolog 1 (mouse);ARGP1;DGAT
Celera Genomic Axis:         GA_x5YUV32W0T1(753101..765779)
Chromosome:                  Chr8
OMIM number:                 140580
OMIM Information:            HEAT-SHOCK TRANSCRIPTION FACTOR 1;HSF1


Transcript Sequence (SEQ ID NO:456):
CAGGCCCCGCCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGC
CGACGGGCCYGACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGA
GGTGGGGCCGCGCGCCTCGGGCGCTACGAACCCGGCAGGCCCACGCTTGGCTGCGGCCGGGTGCGGGCTGAGGCCATGGGCGACCGCGGCAGCTCCCGGC
GCCGGAGGACAGGGTCGCGGCCCTCGAGCCACGGCGGCGGCGGGCCTGCGGCGGCGGAAGAGGAGGTGCGGGACGCCGCTGCGGGCCCCGACGTGGGAGC
CGCGGGGGACGCGCCAGCCCCGGCCCCCAACAAGGACGGAGACGCCGGCGTGGGCAGCGGCCACTGGGAGCTGAGGTGCCATCGCCTGCAGGATTCTTTA
TTCAGCTCTGACAGTGGCTTCAGCAACTACCGTGGCATCCTGAACTGGTGTGTGGTGATGCTGATCTTGAGCAATGCCCGGTTATTTCTGGAGAACCTCA
TCAAGTATGGCATCCTGGTGGACCCCATCCAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGT
CTTTGCTGTGGCTGCATTCCAGGTTGAGARGCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATT
CTGTGTTTCCCAGCGGCTGTGGTCTTACTGGTTGAGTCTATCACTCCAGTGGGCTCCCTGCTGGCGCTGATGGCGCACACCATCCTCTTCCTCAAGCTCT
TCTCCTACCGCGACGTCAACTCATGGTGCCGCAGGGCCAGGGCCAAGGCTGCCTCTGCAGGGAAGAAGGCCAGCAGTGCTGCTGCCCCGCACACCGTGAG
CTACCCGGACAATCTGACCTACCGCGATCTCTACTACTTCCTCTTCGCCCCCACCTTGTGCTACGAGCTCAACTTTCCCCGCTCTCCCCGCATCCGGAAG
CGCTTTCTGCTGCGACGGATCCTTGAGATGCTGTTCTTCACCCAGCTCCAGGTGGGGCTGATCCAGCAGTGGATGGTCCCCACCATCCAGAACTCCATGA
AGCCCTTCAAGGACATGGACTACTCACGCATCATCGAGCGCCTCCTGAAGCTGGCGGTCCCCAATCACCTCATCTGGCTCATCTTCTTCTACTGGCTCTT
CCACTCCTGCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAG
AACTGGAASATCCCTGTGCACAAGTGGTGCATCAGGTAGGTGGGGTGTGTGTGTGTGTGATGTGGAACATGGCTGTGAACCTGAACCGCTTTCCATGCCC
CCTCCTCTGCAGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGATGGCCAGGACAGGGGTGTTCCTGGCCTCGGCCTTCTTCCACGAG
TACCTGGTGAGCGTCCCTCTGCGAATGTTCCGCCTCTGGGCGTTCACGGGCATGATGGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGG
GCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAATWGCCGTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGC
CCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCAMACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCT
GGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCCCTATGGGGCTCTGTCCTGCACCCCTCAGGGATGGCGACAGCAG
GCCAGACACAGTCTGATGCCAGCTGGGAGTCTTGCTGACCCTGCCCCGGGTCCGAGGGTGTCAATAAAGTGCTGTCCAGTGACCTCTTCAGCCTGCCAGG
GGCCTGGGGCCTGGTGGGGGGTATGGCCACACCCACAAGGGCGAGTGCCAGAGCTGTGTGGACAGCTGTCCCAGGACCTGCCGGGGAGCAGCAGCTCCAC
TGCAGCAGGGCGGGCATGGCCGGTAGGGGGAGTGCAAGGCCAGGCAGACGCCCCCATTCCCCACACTCCCCTACCTAGAAAAGCTCAGCTCAGGCGTCCT
CTCCTGGTGCTACTCCTGCTGGGTGTGCGGGAATCGGCACTCTGGCCCTCAGTGCAGGATGGTCAACTTGCACCCACCGTGCTCAGCTTCAGCTTGGGAA
GAGGTCGGCCCTGGGTTTGCGGGAAGTGGGCTCCAGCCAGGATGGCCCAGGGATGGGCAGTCCACAGGGCCTTTCTGGTGTGGGTCTGGTGAGCCGAGGG
GCTACGGTACACAATGGCTATGTCCATGGCTATTCGCCTTGGGGCAGGGCTCGGTTTGGCAGCCTCTTTCCTTCACTTGGAACCTGGGCAGCCAGGTGGG
CTGGTGGCTCTCAGCTGCCCTCCACGAGGTTGGGGCACCCCTGATCCCCAGGCCTGCCTTGCCCTCTGCTCTTCTGGCACCAGGCTGGGCAGTGCAGACA
GCGCAGCCCTGCAGCCTTCAGGACACCTTGTTCCCAGGCCCTGCAATCCACCAAGCTGGATAGATGGGGCCCCCCTTGATGGTAGCGGGAGGTCAGGGGT
AACCCCAGGGCCCTGCTGCTGCCTTACCTTGCTGGGGTGACTGCTTGATTAAAGACCCCAAGACTGGACCAGGCCCTGGTGTCCCCAGACCTGCAGCTAT
GGCCCAACAAGGCAGGTGTTTGAGGAGGCCCTGCACAGGGTCCCAGGACTGCACCAGGGGCCTCATCAGCAACCTGCTGAACTGGTGGTGTGAGGGGAGG
GTGGGCTCCCTTGGTGGTATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGG
GTGAGCTCCTGGTGGGGGRATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAA
ACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCARGCCCCCTTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGG
GACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAAGACAGTGTGCCCGCCCCGCATCACCTGTCCGAGTGCGAACACCTTGGGAA
GGGGGTTCCTGGTGGTCCTGTGACAACCAGAGACCCCCAGGGCCAAGGTGAGGCGCCCACCCCTGGTCCCTCAATAAAGAACTGCAAGCACATGCTGGTC
CTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGGCCACTGCAGCCYGGCCCTTCTGTGCCCTGGGCCCCTCCTCATTG
CAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCAT
CCACTGKGTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTC
AGTCCAGGTGTGGCTGTGAAGCCCCAACCAAACCACAGGACACGGGGTTGGGGGAAGGCAGACTGGCAGGCCAGGGTGACCCTCCTGACCAGAGGTGCTG
CCCAGACCCGAGCCCGTTTGTCCTACTGGGGCTATGGCGGCCGACCCACCAGTGCCCAAGACCGCGAGGCTGCCCTGCCTCCCCAAGACCAGCCCTGCAC
TGGGGGTGGGGGTGGGCGGCTGGCCCAGCTCCTCCGGGGCCTCTAGGAGACAGTGGGGTCCTTGGCTTTGGGAGGCTCCGAGCCTGTCAGCAGGGAGATG
GTGGGGTCCTCGGCGAAGCCGTCCCCTTCGGAGAAGTAGGAGCCCTCTCCCAGCTCAAACAGCACCGGCAGGTCGTTGCTCCCGGTGTCCACGGAGCCGG
GGTCCAGCAGGAACAGCGGCTGCGCTGTGTAGTGCACCAGCTGCTTCCCTG

Protein Sequence    (SEQ ID NO:1153):
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSN
ARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMA
HTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIR


SNP Information

Context             (SEQ ID NO:8675):
ATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCA
R
GCCCCCTTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAA
Celera SNP ID:            hCV2158038
SNP Position Transcript:  3250
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None   



Context             (SEQ ID NO:8676):
CCCTCAATAAAGAACTGCAAGCACATGCTGGTCCTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGGCCACTGCAGCC
Y
GGCCCTTCTGTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTG
Celera SNP ID:            hCV2158039
SNP Position Transcript:  3568
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None   



Context             (SEQ ID NO:8677):
CACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCATCCACTG
K
GTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTCAGTCCAG
Celera SNP ID:            hCV8332400
SNP Position Transcript:  3707
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None   



Context             (SEQ ID NO:8678):
GTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCA
M
ACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCC
Celera SNP ID:            hCV8332399
SNP Position Transcript:  1857
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None   



Context             (SEQ ID NO:8679):
GCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAGAACTGGAA
S
ATCCCTGTGCACAAGTGGTGCATCAGGTAGGTGGGGTGTGTGTGTGTGTGATGTGGAACATGGCTGTGAACCTGAACCGCTTTCCATGCCCCCTCCTCTG
Celera SNP ID:            hCV8332392
SNP Position Transcript:  1409
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1153, 378, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:8680):
ATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGG
R
ATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAA
Celera SNP ID:            hCV28959016
SNP Position Transcript:  3119
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None   



Context             (SEQ ID NO:8681):
TGATGGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAAT
W
GCCGTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACC
Celera SNP ID:            hCV25602578
SNP Position Transcript:  1753
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,1)   caucasian(A,40)   total(A,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1153, None



Context             (SEQ ID NO:8682):
CAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGTCTTTGCTGTGGCTGCATTCCAGGTTGAGA
R
GCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATTCTGTGTTTCCCAGCGGCTGTGGTCTTACTG
Celera SNP ID:            hCV25602572
SNP Position Transcript:  730
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1153, 152, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:8683):
CCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGCCGACGGGCC
Y
GACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGAGGTGGGGCCG
Celera SNP ID:            hCV28949912
SNP Position Transcript:  110
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1153, None   



Gene Number:                 175
Celera Gene:                 hCG24006 - 66000115786940
Celera Transcript:           hCT15120 - 66000115786941
Public Transcript Accession: NM_012079
Celera Protein:              hCP41615 - 197000069405278
Public Protein Accession:    NP_036211
Gene Symbol:                 DGAT1
Protein Name:                diacylglycerol O-acyltransferase homolog 1 (mouse);ARGP1;DGAT
Celera Genomic Axis:         GA_x5YUV32W0T1(753101..765779)
Chromosome:                  Chr8
OMIM number:                 140580
OMIM Information:            HEAT-SHOCK TRANSCRIPTION FACTOR 1;HSF1


Transcript Sequence (SEQ ID NO:457):
CAGGCCCCGCCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGC
CGACGGGCCYGACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGA
GGTGGGGCCGCGCGCCTCGGGCGCTACGAACCCGGCAGGCCCACGCTTGGCTGCGGCCGGGTGCGGGCTGAGGCCATGGGCGACCGCGGCAGCTCCCGGC
GCCGGAGGACAGGGTCGCGGCCCTCGAGCCACGGCGGCGGCGGGCCTGCGGCGGCGGAAGAGGAGGTGCGGGACGCCGCTGCGGGCCCCGACGTGGGAGC
CGCGGGGGACGCGCCAGCCCCGGCCCCCAACAAGGACGGAGACGCCGGCGTGGGCAGCGGCCACTGGGAGCTGAGGTGCCATCGCCTGCAGGATTCTTTA
TTCAGCTCTGACAGTGGCTTCAGCAACTACCGTGGCATCCTGAACTGGTGTGTGGTGATGCTGATCTTGAGCAATGCCCGGTTATTTCTGGAGAACCTCA
TCAAGTATGGCATCCTGGTGGACCCCATCCAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGT
CTTTGCTGTGGCTGCATTCCAGGTTGAGARGCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATT
CTGTGTTTCCCAGCGGCTGTGGTCTTACTGGTTGAGTCTATCACTCCAGTGGGCTCCCTGCTGGCGCTGATGGCGCACACCATCCTCTTCCTCAAGCTCT
TCTCCTACCGCGACGTCAACTCATGGTGCCGCAGGGCCAGGGCCAAGGCTGCCTCTGCAGGGAAGAAGGCCAGCAGTGCTGCTGCCCCGCACACCGTGAG
CTACCCGGACAATCTGACCTACCGCGATCTCTACTACTTCCTCTTCGCCCCCACCTTGTGCTACGAGCTCAACTTTCCCCGCTCTCCCCGCATCCGGAAG
CGCTTTCTGCTGCGACGGATCCTTGAGATGCTGTTCTTCACCCAGCTCCAGGTGGGGCTGATCCAGCAGTGGATGGTCCCCACCATCCAGAACTCCATGA
AGCCCTTCAAGGACATGGACTACTCACGCATCATCGAGCGCCTCCTGAAGCTGGCGGTCCCCAATCACCTCATCTGGCTCATCTTCTTCTACTGGCTCTT
CCACTCCTGCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAG
AACTGGAASATCCCTGTGCACAAGTGGTGCATCAGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGATGGCCAGGACAGGGGTGTTCC
TGGCCTCGGCCTTCTTCCACGAGTACCTGGTGAGCGTCCCTCTGCGAATGTTCCGCCTCTGGGCGTTCACGGGCATGATGGCTCAGATCCCACTGGCCTG
GTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAATWGCCGTCCTCATGTACGTCCACGAC
TACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCAMACCCGCTGCCAGAGCCCACC
TCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCCCTATGGGGCTCTGTCCTGCA
CCCCTCAGGGATGGCGACAGCAGGCCAGACACAGTCTGATGCCAGCTGGGAGTCTTGCTGACCCTGCCCCGGGTCCGAGGGTGTCAATAAAGTGCTGTCC
AGTGACCTCTTCAGCCTGCCAGGGGCCTGGGGCCTGGTGGGGGGTATGGCCACACCCACAAGGGCGAGTGCCAGAGCTGTGTGGACAGCTGTCCCAGGAC
CTGCCGGGGAGCAGCAGCTCCACTGCAGCAGGGCGGGCATGGCCGGTAGGGGGAGTGCAAGGCCAGGCAGACGCCCCCATTCCCCACACTCCCCTACCTA
GAAAAGCTCAGCTCAGGCGTCCTCTCCTGGTGCTACTCCTGCTGGGTGTGCGGGAATCGGCACTCTGGCCCTCAGTGCAGGATGGTCAACTTGCACCCAC
CGTGCTCAGCTTCAGCTTGGGAAGAGGTCGGCCCTGGGTTTGCGGGAAGTGGGCTCCAGCCAGGATGGCCCAGGGATGGGCAGTCCACAGGGCCTTTCTG
GTGTGGGTCTGGTGAGCCGAGGGGCTACGGTACACAATGGCTATGTCCATGGCTATTCGCCTTGGGGCAGGGCTCGGTTTGGCAGCCTCTTTCCTTCACT
TGGAACCTGGGCAGCCAGGTGGGCTGGTGGCTCTCAGCTGCCCTCCACGAGGTTGGGGCACCCCTGATCCCCAGGCCTGCCTTGCCCTCTGCTCTTCTGG
CACCAGGCTGGGCAGTGCAGACAGCGCAGCCCTGCAGCCTTCAGGACACCTTGTTCCCAGGCCCTGCAATCCACCAAGCTGGATAGATGGGGCCCCCCTT
GATGGTAGCGGGAGGTCAGGGGTAACCCCAGGGCCCTGCTGCTGCCTTACCTTGCTGGGGTGACTGCTTGATTAAAGACCCCAAGACTGGACCAGGCCCT
GGTGTCCCCAGACCTGCAGCTATGGCCCAACAAGGCAGGTGTTTGAGGAGGCCCTGCACAGGGTCCCAGGACTGCACCAGGGGCCTCATCAGCAACCTGC
TGAACTGGTGGTGTGAGGGGAGGGTGGGCTCCCTTGGTGGTATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGC
CCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGGRATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGT
TGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCARGCCCCCTTCCCTTCCTCCACCAGGCTG
AGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAAGACAGTGTGCCCGCCCCGCATCACCTG
TCCGAGTGCGAACACCTTGGGAAGGGGGTTCCTGGTGGTCCTGTGACAACCAGAGACCCCCAGGGCCAAGGTGAGGCGCCCACCCCTGGTCCCTCAATAA
AGAACTGCAAGCACATGCTGGTCCTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGGCCACTGCAGCCYGGCCCTTCT
GTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGAT
CTCTGCCTGTCTTGTCCGTCCATCCACTGKGTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCT
GACTATGAACAACCTGCAGGGTCAGTCCAGGTGTGGCTGTGAAGCCCCAACCAAACCACAGGACACGGGGTTGGGGGAAGGCAGACTGGCAGGCCAGGGT
GACCCTCCTGACCAGAGGTGCTGCCCAGACCCGAGCCCGTTTGTCCTACTGGGGCTATGGCGGCCGACCCACCAGTGCCCAAGACCGCGAGGCTGCCCTG
CCTCCCCAAGACCAGCCCTGCACTGGGGGTGGGGGTGGGCGGCTGGCCCAGCTCCTCCGGGGCCTCTAGGAGACAGTGGGGTCCTTGGCTTTGGGAGGCT
CCGAGCCTGTCAGCAGGGAGATGGTGGGGTCCTCGGCGAAGCCGTCCCCTTCGGAGAAGTAGGAGCCCTCTCCCAGCTCAAACAGCACCGGCAGGTCGTT
GCTCCCGGTGTCCACGGAGCCGGGGTCCAGCAGGAACAGCGGCTGCGCTGTGTAGTGCACCAGCTGCTTCCCTG

Protein Sequence    (SEQ ID NO:1154):
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSN
ARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMA
HTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSK
WMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA


SNP Information

Context             (SEQ ID NO:8684):
GTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCA
M
ACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCC
Celera SNP ID:            hCV8332399
SNP Position Transcript:  1780
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8685):
ATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGG
R
ATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAA
Celera SNP ID:            hCV28959016
SNP Position Transcript:  3042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8686):
TGATGGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAAT
W
GCCGTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACC
Celera SNP ID:            hCV25602578
SNP Position Transcript:  1676
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,1)   caucasian(A,40)   total(A,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1154, 467, (I,ATA)   (I,ATT)   



Context             (SEQ ID NO:8687):
CCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGCCGACGGGCC
Y
GACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGAGGTGGGGCCG
Celera SNP ID:            hCV28949912
SNP Position Transcript:  110
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8688):
ATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCA
R
GCCCCCTTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAA
Celera SNP ID:            hCV2158038
SNP Position Transcript:  3173
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8689):
CCCTCAATAAAGAACTGCAAGCACATGCTGGTCCTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGGCCACTGCAGCC
Y
GGCCCTTCTGTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTG
Celera SNP ID:            hCV2158039
SNP Position Transcript:  3491
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8690):
CACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCATCCACTG
K
GTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTCAGTCCAG
Celera SNP ID:            hCV8332400
SNP Position Transcript:  3630
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1154, None   



Context             (SEQ ID NO:8691):
GCCTGAATGCCGTGGCTGAGCTCATGCAGTTTGGAGACCGGGAGTTCTACCGGGACTGGTGGAACTCCGAGTCTGTCACCTACTTCTGGCAGAACTGGAA
S
ATCCCTGTGCACAAGTGGTGCATCAGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGATGGCCAGGACAGGGGTGTTCCTGGCCTCGG
Celera SNP ID:            hCV8332392
SNP Position Transcript:  1409
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1154, 378, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:8692):
CAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGTCTTTGCTGTGGCTGCATTCCAGGTTGAGA
R
GCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATTCTGTGTTTCCCAGCGGCTGTGGTCTTACTG
Celera SNP ID:            hCV25602572
SNP Position Transcript:  730
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1154, 152, (K,AAG)   (R,AGG)   



Gene Number:                 175
Celera Gene:                 hCG24006 - 66000115786940
Celera Transcript:           hCT1961866 - 66000115786968
Public Transcript Accession: NM_012079
Celera Protein:              hCP1773757 - 197000069405280
Public Protein Accession:    NP_036211
Gene Symbol:                 DGAT1
Protein Name:                diacylglycerol O-acyltransferase homolog 1 (mouse);ARGP1;DGAT
Celera Genomic Axis:         GA_x5YUV32W0T1(753101..765779)
Chromosome:                  Chr8
OMIM number:                 140580
OMIM Information:            HEAT-SHOCK TRANSCRIPTION FACTOR 1;HSF1


Transcript Sequence (SEQ ID NO:458):
CAGGCCCCGCCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGC
CGACGGGCCYGACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGA
GGTGGGGCCGCGCGCCTCGGGCGCTACGAACCCGGCAGGCCCACGCTTGGCTGCGGCCGGGTGCGGGCTGAGGCCATGGGCGACCGCGGCAGCTCCCGGC
GCCGGAGGACAGGGTCGCGGCCCTCGAGCCACGGCGGCGGCGGGCCTGCGGCGGCGGAAGAGGAGGTGCGGGACGCCGCTGCGGGCCCCGACGTGGGAGC
CGCGGGGGACGCGCCAGCCCCGGCCCCCAACAAGGACGGAGACGCCGGCGTGGGCAGCGGCCACTGGGAGCTGAGGTGCCATCGCCTGCAGGATTCTTTA
TTCAGCTCTGACAGTGGCTTCAGCAACTACCGTGGCATCCTGAACTGGTGTGTGGTGATGCTGATCTTGAGCAATGCCCGGTTATTTCTGGAGAACCTCA
TCAAGTATGGCATCCTGGTGGACCCCATCCAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGT
CTTTGCTGTGGCTGCATTCCAGGTTGAGARGCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATT
CTGTGTTTCCCAGCGGCTGTGGTCTTACTGGTTGAGTCTATCACTCCAGTGGGCTCCCTGCTGGCGCTGATGGCGCACACCATCCTCTTCCTCAAGCTCT
TCTCCTACCGCGACGTCAACTCATGGTGCCGCAGGGCCAGGGCCAAGGCTGCCTCTGCAGGGAAGAAGGCCAGCAGTGCTGCTGCCCCGCACACCGTGAG
CTACCCGGACAATCTGACCTACCGCGATCTCTACTACTTCCTCTTCGCCCCCACCTTGTGCTACGAGCTCAACTTTCCCCGCTCTCCCCGCATCCGGAAG
CGCTTTCTGCTGCGACGGATCCTTGAGATGCTGTTCTTCACCCAGCTCCAGGTGGGGCTGATCCAGCAGTGGATGGTCCCCACCATCCAGAACTCCATGA
AGCCCTTCAAGGACATGGACTACTCACGCATCATCGAGCGCCTCCTGAAGCTGGCGACACTTCTACAAGCCCATGCTTCGACGGGGCAGCAGCAAGTGGA
TGGCCAGGACAGGGGTGTTCCTGGCCTCGGCCTTCTTCCACGAGTACCTGGTGAGCGTCCCTCTGCGAATGTTCCGCCTCTGGGCGTTCACGGGCATGAT
GGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAATWGCC
GTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCA
MACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCC
CCTATGGGGCTCTGTCCTGCACCCCTCAGGGATGGCGACAGCAGGCCAGACACAGTCTGATGCCAGCTGGGAGTCTTGCTGACCCTGCCCCGGGTCCGAG
GGTGTCAATAAAGTGCTGTCCAGTGACCTCTTCAGCCTGCCAGGGGCCTGGGGCCTGGTGGGGGGTATGGCCACACCCACAAGGGCGAGTGCCAGAGCTG
TGTGGACAGCTGTCCCAGGACCTGCCGGGGAGCAGCAGCTCCACTGCAGCAGGGCGGGCATGGCCGGTAGGGGGAGTGCAAGGCCAGGCAGACGCCCCCA
TTCCCCACACTCCCCTACCTAGAAAAGCTCAGCTCAGGCGTCCTCTCCTGGTGCTACTCCTGCTGGGTGTGCGGGAATCGGCACTCTGGCCCTCAGTGCA
GGATGGTCAACTTGCACCCACCGTGCTCAGCTTCAGCTTGGGAAGAGGTCGGCCCTGGGTTTGCGGGAAGTGGGCTCCAGCCAGGATGGCCCAGGGATGG
GCAGTCCACAGGGCCTTTCTGGTGTGGGTCTGGTGAGCCGAGGGGCTACGGTACACAATGGCTATGTCCATGGCTATTCGCCTTGGGGCAGGGCTCGGTT
TGGCAGCCTCTTTCCTTCACTTGGAACCTGGGCAGCCAGGTGGGCTGGTGGCTCTCAGCTGCCCTCCACGAGGTTGGGGCACCCCTGATCCCCAGGCCTG
CCTTGCCCTCTGCTCTTCTGGCACCAGGCTGGGCAGTGCAGACAGCGCAGCCCTGCAGCCTTCAGGACACCTTGTTCCCAGGCCCTGCAATCCACCAAGC
TGGATAGATGGGGCCCCCCTTGATGGTAGCGGGAGGTCAGGGGTAACCCCAGGGCCCTGCTGCTGCCTTACCTTGCTGGGGTGACTGCTTGATTAAAGAC
CCCAAGACTGGACCAGGCCCTGGTGTCCCCAGACCTGCAGCTATGGCCCAACAAGGCAGGTGTTTGAGGAGGCCCTGCACAGGGTCCCAGGACTGCACCA
GGGGCCTCATCAGCAACCTGCTGAACTGGTGGTGTGAGGGGAGGGTGGGCTCCCTTGGTGGTATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGA
GATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGGRATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCT
CCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCARGCCCCC
TTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAAGACAGT
GTGCCCGCCCCGCATCACCTGTCCGAGTGCGAACACCTTGGGAAGGGGGTTCCTGGTGGTCCTGTGACAACCAGAGACCCCCAGGGCCAAGGTGAGGCGC
CCACCCCTGGTCCCTCAATAAAGAACTGCAAGCACATGCTGGTCCTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGG
CCACTGCAGCCYGGCCCTTCTGTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCAT
AGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCATCCACTGKGTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGT
AAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTCAGTCCAGGTGTGGCTGTGAAGCCCCAACCAAACCACAGGACACGGGGTTGGGGGAA
GGCAGACTGGCAGGCCAGGGTGACCCTCCTGACCAGAGGTGCTGCCCAGACCCGAGCCCGTTTGTCCTACTGGGGCTATGGCGGCCGACCCACCAGTGCC
CAAGACCGCGAGGCTGCCCTGCCTCCCCAAGACCAGCCCTGCACTGGGGGTGGGGGTGGGCGGCTGGCCCAGCTCCTCCGGGGCCTCTAGGAGACAGTGG
GGTCCTTGGCTTTGGGAGGCTCCGAGCCTGTCAGCAGGGAGATGGTGGGGTCCTCGGCGAAGCCGTCCCCTTCGGAGAAGTAGGAGCCCTCTCCCAGCTC
AAACAGCACCGGCAGGTCGTTGCTCCCGGTGTCCACGGAGCCGGGGTCCAGCAGGAACAGCGGCTGCGCTGTGTAGTGCACCAGCTGCTTCCCTG

Protein Sequence    (SEQ ID NO:1155):
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSN
ARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMA
HTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
VPTIQNSMKPFKDMDYSRIIERLLKLATLLQAHASTGQQQVDGQDRGVPGLGLLPRVPGERPSANVPPLGVHGHDGSDPTGLVRGPLFPGQLWQRSCVAV
AHHRTANSRPHVRPRLLRAQL


SNP Information

Context             (SEQ ID NO:8693):
ATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAAGCAGCAAAGCCTGCTCCACTGCCCAGCGCA
R
GCCCCCTTCCCTTCCTCCACCAGGCTGAGTGGAGAACCCTAAAGCTACGGGACAGGCTCCCGTTCCCCGTGCCTACACAGGGTGCTGGCTCTGGCAGAAA
Celera SNP ID:            hCV2158038
SNP Position Transcript:  2994
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1155, None   



Context             (SEQ ID NO:8694):
CCCTCAATAAAGAACTGCAAGCACATGCTGGTCCTGGGGAGTCGGGCAGGCACGGAGCTAGCTGCAAGCATCCGTCTTCCCCCAGGAGGCCACTGCAGCC
Y
GGCCCTTCTGTGCCCTGGGCCCCTCCTCATTGCAGCACCACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTG
Celera SNP ID:            hCV2158039
SNP Position Transcript:  3312
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,8)   total(C,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1155, None   



Context             (SEQ ID NO:8695):
CACCCACCGCACCACCCTGGGACAGAGGAAACACATGGAGGCCATAGCATAGAGCCTGTCTGTTTATAGATCTCTGCCTGTCTTGTCCGTCCATCCACTG
K
GTGTATATATCTGTGTATCTCTGTGGAGCGGGGAACGGGACAGTTGTGTAAAAATCCAAAATACAATTCTGACTATGAACAACCTGCAGGGTCAGTCCAG
Celera SNP ID:            hCV8332400
SNP Position Transcript:  3451
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1155, None   



Context             (SEQ ID NO:8696):
GTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACCTCA
M
ACCCGCTGCCAGAGCCCACCTCTCCTCCTAGGCCTCGAGTGCTGGGGATGGGCCTGGCTGCACAGCATCCTCCTCTGGTCCCAGGGAGGCCTCTCTGCCC
Celera SNP ID:            hCV8332399
SNP Position Transcript:  1601
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1155, None   



Context             (SEQ ID NO:8697):
ATCCTCCCTCTACCCCAGTGGGGGCTGGTGGGCCCTGAGATGGAGGCATCTCCTTGGGCCCTGCTGAGGATGGCAGTAGTGGGTGAGCTCCTGGTGGGGG
R
ATGGGTGTGGGGCCGACTCCTCCATCCCACATGGGCTCCTGTGCCTCTCCCTATCAGTTGGCCAGTGGAGCTCGAGAACAAACTGTTGCTGCCAGATAAA
Celera SNP ID:            hCV28959016
SNP Position Transcript:  2863
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1155, None   



Context             (SEQ ID NO:8698):
TGATGGCTCAGATCCCACTGGCCTGGTTCGTGGGCCGCTTTTTCCAGGGCAACTATGGCAACGCAGCTGTGTGGCTGTCGCTCATCATCGGACAGCCAAT
W
GCCGTCCTCATGTACGTCCACGACTACTACGTGCTCAACTATGAGGCCCCAGCGGCAGAGGCCTGAGCTGCACCTGAGGGCCTGGCTTCTCACTGCCACC
Celera SNP ID:            hCV25602578
SNP Position Transcript:  1497
SNP Source:               Applera
Population(Allele,Count): african american(A,31|T,1)   caucasian(A,40)   total(A,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1155, 408, (S,AGC)   (C,TGC)   



Context             (SEQ ID NO:8699):
CAGGTGGTTTCTCTGTTCCTGAAGGATCCCTATAGCTGGCCCGCCCCATGCCTGGTTATTGCGGCCAATGTCTTTGCTGTGGCTGCATTCCAGGTTGAGA
R
GCGCCTGGCGGTGGGTGCCCTGACGGAGCAGGCGGGACTGCTGCTGCACGTGGCCAACCTGGCCACCATTCTGTGTTTCCCAGCGGCTGTGGTCTTACTG
Celera SNP ID:            hCV25602572
SNP Position Transcript:  730
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1155, 152, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:8700):
CCTCAGGTCGGCCGCGGACTACAAATGGACGAGAGAGGCGGCCGTCCATTAGTTAGCGGCTCCGGAGCAACGCAGCCGTTGTCCTTGAGGCCGACGGGCC
Y
GACGCGGGCGGGTTGAACGCGCTGGTGAGGCGGTCACCCGGGCTACGGCGGCCGGCAGGGGGCAGTGGCGGCCGTTGTCTAGGGCCCGGAGGTGGGGCCG
Celera SNP ID:            hCV28949912
SNP Position Transcript:  110
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1155, None   



Gene Number:                 176
Celera Gene:                 hCG24009 - 66000115797801
Celera Transcript:           hCT15123 - 66000115797802
Public Transcript Accession: NM_005526
Celera Protein:              hCP41594 - 197000069405198
Public Protein Accession:    NP_005517
Gene Symbol:                 HSF1
Protein Name:                heat shock transcription factor 1;HSTF1
Celera Genomic Axis:         GA_x5YUV32W0T1(764380..787346)
Chromosome:                  Chr8
OMIM number:                 140580
OMIM Information:            HEAT-SHOCK TRANSCRIPTION FACTOR 1;HSF1


Transcript Sequence (SEQ ID NO:459):
GTTGCCTGGCAGCAGGCTTGTTTACATGGTCCGACCCTGCAAGACCGGACAGCTCCGGTTTGCAGAAGTAAATCAGTGATTGTCTGGAGTTGGAGATCAG
AATCTGCTGTTCACATCCCGGCTGTGACGTCGTGTCCGAGCGGGAACAGCTTCCACGTGTTCGACCAGGGCCAGTTTGCCAAGGAGGTGCTGCCCAAGTA
CTTCAAGCACAACAACATGGCCAGCTTCGTGCGGCAGCTCAACATGTATGGCTTCCGGAAAGTGGTCCACATCGAGCAGGGCGGCCTGGTCAAGCCAGAG
AGAGACGACACGGAGTTCCAGCACCCATGCTTCCTGCGTGGCCAGGAGCAGCTCCTTGAGAACATCAAGAGGAAAGTGACCAGTGTGTCCACCCTGAAGA
GTGAAGACATAAAGATCCGCCAGGACAGCGTCACCAAGCTGCTGACGGACGTGCAGCTGATGAAGGGGAAGCAGGAGTGCATGGACTCCAAGCTCCTGGC
CATGAAGCATGAGAATGAGGCTCTGTGGCGGGAGGTGGCCAGCCTTCGGCAGAAGCATGCCCAGCAACAGAAAGTCGTCAACAAGCTCATTCAGTTCCTG
ATCTCACTGGTGCAGTCAAACCGGATCCTGGGGGTGAAGAGAAAGATCCCCCTGATGCTGAACGACAGTGGCTCAGCACATTCCATGCCCAAGTATAGCC
GGCAGTTCTCCCTGGAGCACGTCCACGGCTCGGGCCCCTACTCGGCCCCCTCCCCAGCCTACAGCAGCTCCAGCCTCTACGCCCCTGATGCTGTGGCCAG
CTCTGGACCCATCATCTCCGACATCACCGAGCTGGCTCCTGCCAGCCCCATGGCCTCCCCCGGCGGGAGCATAGACGAGAGGCCCCTATCCAGCAGCCCC
CTGGTGCGTGTCAAGGAGGAGCCCCCCAGCCCGCCTCAGAGCCCCCGGGTAGAGGAGGCGAGTCCCGGGCGCCCATCTTCCGTGGACACCCTCTTGTCCC
CGACCGCCCTCATTGACTCCATCCTGCGGGAGAGTGAACCTGCCCCCGCCTCCGTCACAGCCCTCACGGACGCCAGGGGCCACACGGACACCGAGGGCCG
GCCTCCCTCCCCCCCGCCCACCTCCACCCCTGAAAAGTGCCTCAGCGTAGCCTGCCTGGACAAGAATGAGCTCAGTGACCACTTGGATGCTATGGACTCC
AACCTGGATAACCTGCAGACCATGCTGAGCAGCCACGGCTTCAGCGTGGACACCAGTGCCCTGCTGGACCTGTTCAGCCCCTCGGTGACCGTGCCCGACA
TGAGCCTGCCTGACCTTGACAGCAGCCTGGCCAGTATCCAAGAGCTCCTGTCTCCCCAGGAGCCCCCCAGGCCTCCCGAGGCAGAGAACAGCAGCCCGGA
TTCAGGGAAGCAGCTGGTGCACTACACAGCGCAGCCGCTGTTCCTGCTGGACCCCGGCTCCGTGGACACCGGGAGCAACGACCTGCCGGTGCTGTTTGAG
CTGGGAGAGGGCTCCTACTTCTCCGAAGGGGACGGCTTCGCCGAGGACCCCACCATCTCCCTGCTGACAGGCTCGGAGCCTCCCAAAGCCAAGGACCCCA
CTGTCTCCTAGAGGCCCCGGAGGAGCTGGGCCAGCCGCCCACCCCCACCCCCAGTGCAGGGCTGGTCTTGGGGAGGCAGGGCAGCCTCGCGGTCTTGGGC
ACTGGTGGGTCGGCCGCCATAGCCCCAGTAGGACAAACGGGCTCGGGTCTGGGCAGCACCTCTGGTCAGGAGGGTCACCCTGGCCTGCCAGTCTGCCTTC
CCCCAACCCCGTGTCCTGTGGTTTGGTTGGGGCTTCACAGCCACACCTGGACTGACCCTGCAGGTTGTTCATAGTCAGAATTGTATTTTGGATTTTTACA
CAACTGTCCCGTTCCCCGCTCCACAGAGATACACAGATATATACACMCAGTGGATGGACGGACAAGACAGGCAGAGATCTATAAACAGACAGGCTCTATG
CTATGGCCTCCATGTGTTTCCTCTGTCCCAGGGTGGTGCGGTGGGTGGTGCTGCAATGAGGAGGGGCCCAGGGCACAGAAGGGCCRGGCTGCAGTGGCCT
CCTGGGGGAAGACGGATGCTTGCAGCTAGCTCCGTGCCTGCCCGACTCCCCAGGACCAGCATGTGCTTGCAGTTCTTTATTGAGGGACCAGGGGTGGGCG
CCTCACCTTGGCCCTGGGGGTCTCTGGTTGTCACAGGACCACCAGGAACCCCCTTCCCAAGGTGTTCGCACTCGGACAGGTGATGCGGGGCGGGCACACT
GTCTTTCTGCCAGAGCCAGCACCCTGTGTAGGCACGGGGAACGGGAGCCTGTCCCGTAGCTTTAGGGTTCTCCACTCAGCCTGGTGGAGGAAGGGAAGGG
GGCYTGCGCTGGGCAGTGGAGCAGGCTTTGCTGCTTTATCTGGCAGCAACAGTTTGTTCTCGAGCTCCACTGGCCAACTGATAGGGAGAGGCACAGGAGC
CCATGTGGGATGGAGGAGTCGGCCCCACACCCATYCCCCCACCAGGAGCTCACCCACTACTGCCATCCTCAGCAGGGCCCAAGGAGATGCCTCCATCTCA
GGGCCCACCAGCCCCCACTGGGGTAGAGGGAGGATACCACCAAGGGAGCCCACCCTCCCCTCACACCACCAGTTCAGCAGGTTGCTGATGAGGCCCCTGG
TGCAGTCCTGGGACCCTGTGCAGGGCCTCCTCAAACACCTGCCTTGTTGGGCCATAGCTGCAGGTCTGGGGACACCAGGGCCTGGTCCAGTCTTGGGGTC
T

Protein Sequence    (SEQ ID NO:1156):
MASFVRQLNMYGFRKVVHIEQGGLVKPERDDTEFQHPCFLRGQEQLLENIKRKVTSVSTLKSEDIKIRQDSVTKLLTDVQLMKGKQECMDSKLLAMKHEN
EALWREVASLRQKHAQQQKVVNKLIQFLISLVQSNRILGVKRKIPLMLNDSGSAHSMPKYSRQFSLEHVHGSGPYSAPSPAYSSSSLYAPDAVASSGPII
SDITELAPASPMASPGGSIDERPLSSSPLVRVKEEPPSPPQSPRVEEASPGRPSSVDTLLSPTALIDSILRESEPAPASVTALTDARGHTDTEGRPPSPP
PTSTPEKCLSVACLDKNELSDHLDAMDSNLDNLQTMLSSHGFSVDTSALLDLFSPSVTVPDMSLPDLDSSLASIQELLSPQEPPRPPEAENSSPDSGKQL
VHYTAQPLFLLDPGSVDTGSNDLPVLFELGEGSYFSEGDGFAEDPTISLLTGSEPPKAKDPTVS


SNP Information

Context             (SEQ ID NO:8701):
TTTCTGCCAGAGCCAGCACCCTGTGTAGGCACGGGGAACGGGAGCCTGTCCCGTAGCTTTAGGGTTCTCCACTCAGCCTGGTGGAGGAAGGGAAGGGGGC
Y
TGCGCTGGGCAGTGGAGCAGGCTTTGCTGCTTTATCTGGCAGCAACAGTTTGTTCTCGAGCTCCACTGGCCAACTGATAGGGAGAGGCACAGGAGCCCAT
Celera SNP ID:            hCV2158038
SNP Position Transcript:  2404
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1156, None   



Context             (SEQ ID NO:8702):
CAGACAGGCTCTATGCTATGGCCTCCATGTGTTTCCTCTGTCCCAGGGTGGTGCGGTGGGTGGTGCTGCAATGAGGAGGGGCCCAGGGCACAGAAGGGCC
R
GGCTGCAGTGGCCTCCTGGGGGAAGACGGATGCTTGCAGCTAGCTCCGTGCCTGCCCGACTCCCCAGGACCAGCATGTGCTTGCAGTTCTTTATTGAGGG
Celera SNP ID:            hCV2158039
SNP Position Transcript:  2086
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,8)   total(G,8|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1156, None   



Context             (SEQ ID NO:8703):
CTGGACTGACCCTGCAGGTTGTTCATAGTCAGAATTGTATTTTGGATTTTTACACAACTGTCCCGTTCCCCGCTCCACAGAGATACACAGATATATACAC
M
CAGTGGATGGACGGACAAGACAGGCAGAGATCTATAAACAGACAGGCTCTATGCTATGGCCTCCATGTGTTTCCTCTGTCCCAGGGTGGTGCGGTGGGTG
Celera SNP ID:            hCV8332400
SNP Position Transcript:  1947
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1156, None   



Context             (SEQ ID NO:8704):
TTTATCTGGCAGCAACAGTTTGTTCTCGAGCTCCACTGGCCAACTGATAGGGAGAGGCACAGGAGCCCATGTGGGATGGAGGAGTCGGCCCCACACCCAT
Y
CCCCCACCAGGAGCTCACCCACTACTGCCATCCTCAGCAGGGCCCAAGGAGATGCCTCCATCTCAGGGCCCACCAGCCCCCACTGGGGTAGAGGGAGGAT
Celera SNP ID:            hCV28959016
SNP Position Transcript:  2535
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1156, None   



Gene Number:                 177
Celera Gene:                 hCG24062 - 145000147751280
Celera Transcript:           hCT15176 - 145000147751281
Public Transcript Accession: NM_006820
Celera Protein:              hCP41413 - 197000064953255
Public Protein Accession:    NP_006811
Gene Symbol:                 C1orf29
Protein Name:                chromosome 1 open reading frame 29;GS3686
Celera Genomic Axis:         GA_x5YUV32W802(4536610..4559265)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:460):
CTCTGAAGCCACAGATCTSTTAAGAACTTTCTGTCTCCAAACCGTGGCTGCTCGATAAATCAGACAGAACAGTTAATCCTCAATTTAAGCCTGATCTAAC
CCCTAGAAACAGATATAGAACAATGGAAGTGACAACAAGATTGACATGGAATGATGAAAATCATCTGCGCAAGCTGCTTGGAAATGTTTCTTTGAGTCTT
CTCTATAAGTCTAGTGTTCATGGAGGTAGCATTGAAGATATGGTTGAAAGATGCAGCCGTCAGGGATGTACTATAACAATGGCTTACATTGATTACAATA
TGATTGTAGCCTTTATGCTTGGAAATTATATTAATTTACRTGAAAGTTCTACAGAGCCAAATGATTCCCTATGGTTTTCACTTCAAAAGAAAAATGACAC
CACTGAAATAGAAACTTTACTCTTAAATACARCACCAAAAATTATTGATGAGCAACTGGTGTGTCGTTTATCGAAAACGGATATTTTCATTATATGTCGA
GATAATAAAATTTATCTAGATAAAATGATAACAAGAAACTTGAAACTAAGGTTTTATGGCCACYGTCAGTATTTGGAATGTGAAGTTTTTCGAGTTGAAG
GAATTAAGGATAACCTAGACGACATAAAGAGGATAATTAAAGCCAGAGAGCACAGAAATAGGCTTCTAGCAGACATCAGAGACYATAGGCCCTATGCAGA
CTTGGTTTCAGAAATTCGTATTCTTTTGGTGGGTCCAGTTGGGTCTGGAAAGTCCAGTTTTTTCAATTCARTCAAGTCTATTTTTCATGGCCATGTGACT
GGCCAAGCCGTAGTGGGGTCTGATAYCACCAGCATAACCGAGCGGTATAGGATATATTCTGTTAAAGATGGAAAAAATGGAAAATCTCTGCCATTTATGT
TGTGTGACACTATGGGGCTAGATGGGGCAGAAGGAGCAGGACTGTGCATGGATGACATTCCCCACATYTTAAAAGGTTGTATGCCAGACAGATATCAGTT
TAATTCCYRTAAACCAATTACACCTGAGCATTCTACTTTTATCACCTCTCCATCTCTGAAGGACAGGATTCACTGTGTGGCTTATGTCTTAGACATCAAC
TCTATTGACAATCTCTACTCTAAAATGTTGGCAAAAGTGAAGCAAGTTCACAAAGAAGTATTAAACTGTGGTATAGCATATGTGGCCTTGCTTACTAAAG
TGGATGATTGCAGTGAGGTTCTTCAAGACAACTTTTTAAACATGAGTAGATCTATGACTTCTCAAAGCCGGGTCATGAATGTCCATAAAATKCTAGGCAT
TCCTATTTCCAATATTTTGATGGTTGGAAATTATGCTTCAGATTTGGAACTGGACCCCATGAAGGATATTCTCATCCTCTCTGCACTGAGGCAGATGCTG
CGGGCTGCAGATGATTTTTTAGAAGATTTGCCTCTTGARGAAACTGGTGCAATTGAGAGAGCGTTACAGCCCTGCATTTGAGATAAGTTGCCTTGATTCT
GACATTTGGCCCAGCCTGTACTGGTGTGCCGCAATGAGAGTCAATCTCTATTGACAGCCTGCTTCAGATTTTGCTTTTGTTCGTTTTGCCTTCTGTCCTT
GGAACAGTCATATCTCAAGTTCAAAGGCCAAAACCTGAGAAGCGGTGGGCTAAGATAGGTCCTACTGCAAACCACCCCTCCATATTTCCGTACCATTTAC
AATTCAGTTTCTGTGACATCTTTTTAAACCACTGGAGGAAAAATGAGATATTCTCTAATTTATTCTTCTATAACACTCTATATAGAGCTATGTGAGTACT
AATCACATTGAATAATAGTTATAAAATTATTGTATAGACATCTGCTTCTTAAACAGATTGTGAGTTCTTTGAGAAACAGCGTGGATTTTACTTATCTGTG
TATTCACAGAGCTTAGCACAGTGCCTGGTAATGAGCAAGCATACTTGCCATTACTTTTCCTTCCCACTCTCTCCAACRTCACATTCACTTTAAATTTTTC
TGTATATAGAAAGGAAAACTAGCCTGGGCAACATGATGAAACCCCATCTCCACTGCAAAAAAAAAAAAAAAAAATAAGAAAGAACAAAACAAACCCCACA
AAAATTAGCTGGGTATGATGGCACGTGCCTGTAGTCCCAGTTACTCAGGATGATTGATTGAGCCTTGGAGGTGGAGGCTACAGTGAGCTGAGATTGTGCC
ACTGTACTCTAGCCAGGGAGAAAGAGTGAGATCCTGGCTCAAAAAAACCAAATAAAACAAAACAAACAAACGAAAAACAGAAAGGAAGACTGAAAGAGAA
TGAAAAGCTGGGGAGAGGAAATAAAAATAAAGAAGGAAGAGTGTTTCATTTATATCTGAATGAAAATATGAATGACTCTAAGTAATTGAATTAATTAAAA
TGAGCCAACTTTTTTTTAACAATTTACATTTTATTTCTATGGGAAAAAATAAATATTCCTCTTCTAACAAACCCATGCTTGATTTTCATTAATTGAATTC
CAAATCATCCTAGCCATGTGTCCTTCCATTTAGGTTACTGGGGCAAATCAGTAAGAAAGTTCTTATATTTATGCTCCAAATAATTCTGAAGTCCTCTTAC
TAGCTGTGAAAGCTAGTACTATTAAGAAAGAAAACAAAATTCCCAAAAGATAGCTTTCACTTTTTTTTTTCCTTAAAGACTTCCTAATTCTCTTCTCCAA
ATTCTTAGTCTTCTTCAAAATAATATGCTTTGGTTCAATAGTTATCCACATTCTGACAGTCTAATTTAGTTTTAATCAGAATTATACTCATCT

Protein Sequence    (SEQ ID NO:1157):
MEVTTRLTWNDENHLRKLLGNVSLSLLYKSSVHGGSIEDMVERCSRQGCTITMAYIDYNMIVAFMLGNYINLHESSTEPNDSLWFSLQKKNDTTEIETLL
LNTAPKIIDEQLVCRLSKTDIFIICRDNKIYLDKMITRNLKLRFYGHRQYLECEVFRVEGIKDNLDDIKRIIKAREHRNRLLADIRDYRPYADLVSEIRI
LLVGPVGSGKSSFFNSVKSIFHGHVTGQAVVGSDITSITERYRIYSVKDGKNGKSLPFMLCDTMGLDGAEGAGLCMDDIPHILKGCMPDRYQFNSRKPIT
PEHSTFITSPSLKDRIHCVAYVLDINSIDNLYSKMLAKVKQVHKEVLNCGIAYVALLTKVDDCSEVLQDNFLNMSRSMTSQSRVMNVHKMLGIPISNILM
VGNYASDLELDPMKDILILSALRQMLRAADDFLEDLPLEETGAIERALQPCI


SNP Information

Context             (SEQ ID NO:8705):
CACTATGGGGCTAGATGGGGCAGAAGGAGCAGGACTGTGCATGGATGACATTCCCCACATCTTAAAAGGTTGTATGCCAGACAGATATCAGTTTAATTCC
Y
GTAAACCAATTACACCTGAGCATTCTACTTTTATCACCTCTCCATCTCTGAAGGACAGGATTCACTGTGTGGCTTATGTCTTAGACATCAACTCTATTGA
Celera SNP ID:            hCV12110898
SNP Position Transcript:  1008
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,34|T,2)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 296, (R,CGT)   (C,TGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,24|T,2)   total(C,32|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 296, (R,CGT)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 296, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:8706):
TTGGTGGGTCCAGTTGGGTCTGGAAAGTCCAGTTTTTTCAATTCAGTCAAGTCTATTTTTCATGGCCATGTGACTGGCCAAGCCGTAGTGGGGTCTGATA
Y
CACCAGCATAACCGAGCGGTATAGGATATATTCTGTTAAAGATGGAAAAAATGGAAAATCTCTGCCATTTATGTTGTGTGACACTATGGGGCTAGATGGG
Celera SNP ID:            hCV3128080
SNP Position Transcript:  826
SNP Source:               Applera
Population(Allele,Count): african american(T,4)   caucasian(C,7|T,13)   total(C,7|T,17)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 235, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,30)   caucasian(C,13|T,27)   total(C,17|T,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 235, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,8)      total(C,2|T,8) ;JBIC-allele(C,408|T,1075)   total(C,408|T,1075)no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 235, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:8707):
AGTTTTTCGAGTTGAAGGAATTAAGGATAACCTAGACGACATAAAGAGGATAATTAAAGCCAGAGAGCACAGAAATAGGCTTCTAGCAGACATCAGAGAC
Y
ATAGGCCCTATGCAGACTTGGTTTCAGAAATTCGTATTCTTTTGGTGGGTCCAGTTGGGTCTGGAAAGTCCAGTTTTTTCAATTCAGTCAAGTCTATTTT
Celera SNP ID:            hCV25761005
SNP Position Transcript:  684
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,33)   caucasian(T,40)   total(C,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 188, (H,CAT)   (Y,TAT)   



Context             (SEQ ID NO:8708):
AGACATCAGAGACTATAGGCCCTATGCAGACTTGGTTTCAGAAATTCGTATTCTTTTGGTGGGTCCAGTTGGGTCTGGAAAGTCCAGTTTTTTCAATTCA
R
TCAAGTCTATTTTTCATGGCCATGTGACTGGCCAAGCCGTAGTGGGGTCTGATATCACCAGCATAACCGAGCGGTATAGGATATATTCTGTTAAAGATGG
Celera SNP ID:            hCV11873694
SNP Position Transcript:  771
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,2|G,38)   total(A,4|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 217, (I,ATC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 217, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:8709):
ACTATGGGGCTAGATGGGGCAGAAGGAGCAGGACTGTGCATGGATGACATTCCCCACATCTTAAAAGGTTGTATGCCAGACAGATATCAGTTTAATTCCC
R
TAAACCAATTACACCTGAGCATTCTACTTTTATCACCTCTCCATCTCTGAAGGACAGGATTCACTGTGTGGCTTATGTCTTAGACATCAACTCTATTGAC
Celera SNP ID:            hCV25602711
SNP Position Transcript:  1009
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 296, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:8710):
TAATTTACATGAAAGTTCTACAGAGCCAAATGATTCCCTATGGTTTTCACTTCAAAAGAAAAATGACACCACTGAAATAGAAACTTTACTCTTAAATACA
R
CACCAAAAATTATTGATGAGCAACTGGTGTGTCGTTTATCGAAAACGGATATTTTCATTATATGTCGAGATAATAAAATTTATCTAGATAAAATGATAAC
Celera SNP ID:            hCV25602703
SNP Position Transcript:  432
SNP Source:               Applera
Population(Allele,Count): african american(G,2)   caucasian(A,1|G,25)   total(A,1|G,27)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 104, (T,ACA)   (A,GCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,39)   total(A,3|G,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 104, (T,ACA)   (A,GCA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,37)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 104, (T,ACA)   (A,GCA)   



Context             (SEQ ID NO:8711):
ATGGTTGAAAGATGCAGCCGTCAGGGATGTACTATAACAATGGCTTACATTGATTACAATATGATTGTAGCCTTTATGCTTGGAAATTATATTAATTTAC
R
TGAAAGTTCTACAGAGCCAAATGATTCCCTATGGTTTTCACTTCAAAAGAAAAATGACACCACTGAAATAGAAACTTTACTCTTAAATACAGCACCAAAA
Celera SNP ID:            hCV3128078
SNP Position Transcript:  340
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,18)   caucasian(A,26|G,14)   total(A,44|G,32)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 73, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,14)   caucasian(A,23|G,11)   total(A,37|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 73, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,1)   caucasian(A,9|G,7)   total(A,10|G,8)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 73, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,4)      total(G,4|A,4) ;SC_12_A(A,1|G,22)   SC_12_C(A,10|G,10)   SC_12_AA(A,9|G,11)   total(G,43|A,20)ASG_42_AA(A,6|G,77)   total(G,77|A,6)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 73, (H,CAT)   (R,CGT)      73, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:8712):
TTACTAAAGTGGATGATTGCAGTGAGGTTCTTCAAGACAACTTTTTAAACATGAGTAGATCTATGACTTCTCAAAGCCGGGTCATGAATGTCCATAAAAT
K
CTAGGCATTCCTATTTCCAATATTTTGATGGTTGGAAATTATGCTTCAGATTTGGAACTGGACCCCATGAAGGATATTCTCATCCTCTCTGCACTGAGGC
Celera SNP ID:            hCV25602721
SNP Position Transcript:  1292
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(G,38|T,2)   total(G,74|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 390, (M,ATG)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,36|T,2)   total(G,74|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 390, (M,ATG)   (I,ATT)   



Context             (SEQ ID NO:8713):
CAGATTTGGAACTGGACCCCATGAAGGATATTCTCATCCTCTCTGCACTGAGGCAGATGCTGCGGGCTGCAGATGATTTTTTAGAAGATTTGCCTCTTGA
R
GAAACTGGTGCAATTGAGAGAGCGTTACAGCCCTGCATTTGAGATAAGTTGCCTTGATTCTGACATTTGGCCCAGCCTGTACTGGTGTGCCGCAATGAGA
Celera SNP ID:            hCV25602722
SNP Position Transcript:  1439
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,36)   total(A,3|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1157, 439, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(G,38)   total(A,3|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1157, 439, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8714):
ATGGAAAAAATGGAAAATCTCTGCCATTTATGTTGTGTGACACTATGGGGCTAGATGGGGCAGAAGGAGCAGGACTGTGCATGGATGACATTCCCCACAT
Y
TTAAAAGGTTGTATGCCAGACAGATATCAGTTTAATTCCCGTAAACCAATTACACCTGAGCATTCTACTTTTATCACCTCTCCATCTCTGAAGGACAGGA
Celera SNP ID:            hCV7543378
SNP Position Transcript:  968
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1157, 282, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:8715):
CTCTGAAGCCACAGATCT
S
TTAAGAACTTTCTGTCTCCAAACCGTGGCTGCTCGATAAATCAGACAGAACAGTTAATCCTCAATTTAAGCCTGATCTAACCCCTAGAAACAGATATAGA
Celera SNP ID:            hCV942467
SNP Position Transcript:  19
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1157, None   



Context             (SEQ ID NO:8716):
TCGTTTATCGAAAACGGATATTTTCATTATATGTCGAGATAATAAAATTTATCTAGATAAAATGATAACAAGAAACTTGAAACTAAGGTTTTATGGCCAC
Y
GTCAGTATTTGGAATGTGAAGTTTTTCGAGTTGAAGGAATTAAGGATAACCTAGACGACATAAAGAGGATAATTAAAGCCAGAGAGCACAGAAATAGGCT
Celera SNP ID:            hCV942476
SNP Position Transcript:  564
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 148, (R,CGT)   (C,TGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   TSC_42_AA(T,6|C,77)   total(C,77|T,6)   TSC_42_A(T,0|C,84)   TSC_42_C(T,0|C,84)   TSC_42_AA(T,6|C,77)   total(C,245|T,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1157, 148, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:8717):
AGCGTGGATTTTACTTATCTGTGTATTCACAGAGCTTAGCACAGTGCCTGGTAATGAGCAAGCATACTTGCCATTACTTTTCCTTCCCACTCTCTCCAAC
R
TCACATTCACTTTAAATTTTTCTGTATATAGAAAGGAAAACTAGCCTGGGCAACATGATGAAACCCCATCTCCACTGCAAAAAAAAAAAAAAAAAATAAG
Celera SNP ID:            hCV12110903
SNP Position Transcript:  1978
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1157, None   



Gene Number:                 178
Celera Gene:                 hCG24081 - 145000146735184
Celera Transcript:           hCT15195 - 145000146735185
Public Transcript Accession: NM_006284
Celera Protein:              hCP41453 - 197000069374801
Public Protein Accession:    NP_006275
Gene Symbol:                 TAF10
Protein Name:                TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa;TAF2A;TAF2H;TAFII30
Celera Genomic Axis:         GA_x5YUV32VW1T(44265806..44267977)
Chromosome:                  Chr11
OMIM number:                 602366
OMIM Information:            INTEGRIN-LINKED KINASE;ILK


Transcript Sequence (SEQ ID NO:461):
GGGCTTTCCAAATCCACTATGAATCCTTAAAAGGCTGAATAAGGGAACTTGAAACGATGCAGACAGGCAGGCAACCCGTAGTCGAGGGACATAGGGCCAT
AAAYGTCGAAGCCAGGTCTTGAGCGTCAGACAGAATGAGGTGTCCCAGAGCGGCGGAGGAGAGCCAGACGCACGCTGGTTCCGGTCTGGACGGAATCGCC
GCGGAGCACGGCAGAGGCTAGGGCGGAATGGCTACGGCAGCGCAGTTCGCCAAGGMTCGGTCTCCGCCCTGCAGCCTATTTCCTCTAACCCGCAGATCCA
CTATGGGAGGAGGCGGGGAGCGGGCTGGAGAGCACTAACAGAGACAGGCGGGGCGAGTCGTGGGCGCGTGACGTCACCCCGGGGTGTGCGCGGCGCGAGC
GGAAGCGGAAGCGGCTCTGTTCGCCGCCTCTCCCACCGGCCCGATGAGCTGCAGCGGCTCCGGCGCGGACCCCGAGGCGGCGCCGGCCTCCGCCGCCTCG
GCCCCGGGCCCCGCGCCCCCGGTCTCGGCTCCCGCCGCGCTGCCCTCCAGCACCGCCGCGGAGAACAAGGCCAGCCCCGCGGGGACAGCGGGGGGACCTG
GGGCTGGAGCAGCTGCTGGGGGCACGGGACCCTTGGCGGCGCGGGCCGGGGAGCCAGCTGAGCGGCGTGGGGCGGCTCCGGTGTCGGCGGGTGGCGCGGC
GCCCCCGGAGGGGGCCATATCTAACGGGGTTTACGTACTGCCGAGCGCGGCCAACGGAGACGTGAAGCCCGTGGTGTCCAGCACGCCTTTKGTGGACTTC
TTGATGCAGCTGGAAGATTACACGCCTACGATCCCAGATGCAGTGACTGGTTACTACCTGAACCGTGCTGGCTTTGAGGCCTCAGACCCACGCATAATTC
GGCTCATCTCCTTAGCTGCCCAGAAATTCATCTCAGATATTGCCAATGATGCCCTACAGCACTGCAAAATGAAGGGCACRGCCTCCGGCAGCTCCCGGAG
CAAGAGCAAGGACCGCAAGTACACTCTAACCATGGAGGACTTGACCCCTGCCCTCAGCGAGTATGGCATCAATGTGAAGAAGCCGCACTACTTCACCTGA
GCCACCCAACCTAAATGTACTTATCTGTCCCCATGTCCCCACACCAGCCTGTTTTCATAATAAACTTTATTGTGACAGGCGGGGCTGATCCCTCCCATGT
TGGRAGACACCATGTGGCAAGTGACAAAGCTCTGAGCCCGCCCCTCTTGGGGCCACAGTGGTAGGGATGGGGGAAGGGGATGGACCCCATGGCTGGGGTA
GTACCATGACTGGAGGCGGGGGAGGCAACCAGAGGCCTGCTGCTTTGGGGAGGTGCATTCCCCCAACCATGTCCCGACACCTCTGGAGTTCARGCAAGGA
CCTTCCAGTCCTACTTGTCCTGCATCTTCTCAAGGATAGGCACAATCATGTCAAATTTGGGTCGCTTTGCAGGGTCTTCATTCATGCAGATCTTCATGAG
CTTACACACATGAGGGGAAATACCTGGTGGGATGGTAGGCCGAAGGCCTTCCAATGCCAC

Protein Sequence    (SEQ ID NO:1158):
MSCSGSGADPEAAPASAASAPGPAPPVSAPAALPSSTAAENKASPAGTAGGPGAGAAAGGTGPLAARAGEPAERRGAAPVSAGGAAPPEGAISNGVYVLP
SAANGDVKPVVSSTPLVDFLMQLEDYTPTIPDAVTGYYLNRAGFEASDPRIIRLISLAAQKFISDIANDALQHCKMKGTASGSSRSKSKDRKYTLTMEDL
TPALSEYGINVKKPHYFT


SNP Information

Context             (SEQ ID NO:8718):
GTGGCGCGGCGCCCCCGGAGGGGGCCATATCTAACGGGGTTTACGTACTGCCGAGCGCGGCCAACGGAGACGTGAAGCCCGTGGTGTCCAGCACGCCTTT
K
GTGGACTTCTTGATGCAGCTGGAAGATTACACGCCTACGATCCCAGATGCAGTGACTGGTTACTACCTGAACCGTGCTGGCTTTGAGGCCTCAGACCCAC
Celera SNP ID:            hCV9599901
SNP Position Transcript:  791
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1158, 116, (L,TTG)   (F,TTT)      



Context             (SEQ ID NO:8719):
ACCCAACCTAAATGTACTTATCTGTCCCCATGTCCCCACACCAGCCTGTTTTCATAATAAACTTTATTGTGACAGGCGGGGCTGATCCCTCCCATGTTGG
R
AGACACCATGTGGCAAGTGACAAAGCTCTGAGCCCGCCCCTCTTGGGGCCACAGTGGTAGGGATGGGGGAAGGGGATGGACCCCATGGCTGGGGTAGTAC
Celera SNP ID:            hCV15929905
SNP Position Transcript:  1204
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1158, None   



Context             (SEQ ID NO:8720):
GAGGAGAGCCAGACGCACGCTGGTTCCGGTCTGGACGGAATCGCCGCGGAGCACGGCAGAGGCTAGGGCGGAATGGCTACGGCAGCGCAGTTCGCCAAGG
M
TCGGTCTCCGCCCTGCAGCCTATTTCCTCTAACCCGCAGATCCACTATGGGAGGAGGCGGGGAGCGGGCTGGAGAGCACTAACAGAGACAGGCGGGGCGA
Celera SNP ID:            hCV16038075
SNP Position Transcript:  256
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1158, None   



Context             (SEQ ID NO:8721):
CTGGGGTAGTACCATGACTGGAGGCGGGGGAGGCAACCAGAGGCCTGCTGCTTTGGGGAGGTGCATTCCCCCAACCATGTCCCGACACCTCTGGAGTTCA
R
GCAAGGACCTTCCAGTCCTACTTGTCCTGCATCTTCTCAAGGATAGGCACAATCATGTCAAATTTGGGTCGCTTTGCAGGGTCTTCATTCATGCAGATCT
Celera SNP ID:            hCV9599896
SNP Position Transcript:  1393
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1158, None   



Context             (SEQ ID NO:8722):
CCTCAGACCCACGCATAATTCGGCTCATCTCCTTAGCTGCCCAGAAATTCATCTCAGATATTGCCAATGATGCCCTACAGCACTGCAAAATGAAGGGCAC
R
GCCTCCGGCAGCTCCCGGAGCAAGAGCAAGGACCGCAAGTACACTCTAACCATGGAGGACTTGACCCCTGCCCTCAGCGAGTATGGCATCAATGTGAAGA
Celera SNP ID:            hCV9599897
SNP Position Transcript:  980
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(A,10|G,22)   total(A,15|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1158, 179, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,3|G,13)   total(A,7|G,41)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1158, 179, (T,ACA)   (T,ACG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1158, 179, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:8723):
CTTTCCAAATCCACTATGAATCCTTAAAAGGCTGAATAAGGGAACTTGAAACGATGCAGACAGGCAGGCAACCCGTAGTCGAGGGACATAGGGCCATAAA
Y
GTCGAAGCCAGGTCTTGAGCGTCAGACAGAATGAGGTGTCCCAGAGCGGCGGAGGAGAGCCAGACGCACGCTGGTTCCGGTCTGGACGGAATCGCCGCGG
Celera SNP ID:            hCV16058400
SNP Position Transcript:  104
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1158, None   



Gene Number:                 179
Celera Gene:                 hCG24084 - 145000146742679
Celera Transcript:           hCT15198 - 145000146742713
Public Transcript Accession: NM_004517
Celera Protein:              hCP41459 - 197000069374780
Public Protein Accession:    NP_004508
Gene Symbol:                 ILK
Protein Name:                integrin-linked kinase;P59
Celera Genomic Axis:         GA_x5YUV32VW1T(44267567..44274726)
Chromosome:                  Chr11
OMIM number:                 602366
OMIM Information:            INTEGRIN-LINKED KINASE;ILK


Transcript Sequence (SEQ ID NO:462):
CGGAGGCCCGCGCTGCCCAAGAGCGCCACGGGCGGGGCGGGGCCGGCGGCGGGCTGCGGGCGCGGCCGGACGGKAGTTCCCCGGAGAAGGATCCTGCAGC
CCGAGTCCCGTCCTCAGGCTTCCCCAATCCAGGGGACTCGGCGCCGGGACGCTGCTATGGACGACATTTTCACTCAGTGCCGGGAGGGCAACGCAGTCGC
CGTTCGCCTGTGGCTGGACAACACGGAGAACGACCTCAACCAGGGGGACGATCATGGCTTCTCCCCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCT
GTGGTTGAGATGTTGATCATGCGGGGGGCACGGATCAATGTAATGAACCGTGGGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATA
TTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACAYGGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGT
GGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATGGAGAGATGCCTGTGGACAAAGCCAAGGCACCCCTGAGAGAGCTTCTC
CGAGAGCGGGCAGAGAAGATGGGCCAGAATCTCAACCGTATTCCATACAAGGACACATTCTGGAAGGGGACCACCCGCACTCGGCCCCGAAATGGAACCC
TGAACAAACACTCTGGCATTGACTTCAAACAGCTTAACTTCCTGACGAAGCTCAACGAGAATCACTCTGGAGAGCTATGGAAGGGCCGCTGGCAGGGCAA
TGACATTGTCGTGAAGGTGCTGAAGGTTCGAGACTGGAGTACAAGGAAGAGCAGGGACTTCAATGAAGAGTGTCCCCGGCTCAGGATTTTCTCGCATCCA
AATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCCRTATGGATCCCTCTACAATGTACTAC
ATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCYTTCCTACACACACTAGAGCCCCTCAT
CCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATGTCAAGTTCTCTTTCCAATGTCCTGGT
CGCATGTATGCACCTGCCTGGGTAGCCCCCGAAGCTCTGCAGAAGAAGCCTGAAGACACAAACAGACGCTCAGCAGACATGTGGAGTTTTGCAGTGCTTC
TGTGGGAACTGGTGACACGGGAGGTACCCTTTGCTGACCTCTCCAATATGGAGATTGGAATGAAGGTGGCATTGGAAGGCCTTCGGCCTACCATCCCACC
AGGTATTTCCCCTCATGTGTGTAAGCTCATGAAGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAG
ATGCAGGACAAGTAGGACTGGAAGGTCCTTGCYTGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTG
CCTCCCCCGCCTCCAGTCATGGTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTT
GTCACTTGCCACATGGTGTCTYCCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC

Protein Sequence    (SEQ ID NO:1159):
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHG
NVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLN
ENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALD
MARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI
GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK


SNP Information

Context             (SEQ ID NO:8724):
GTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCT
Y
CCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC
Celera SNP ID:            hCV15929905
SNP Position Transcript:  1722
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1159, None   



Context             (SEQ ID NO:8725):
GGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACA
Y
GGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATG
Celera SNP ID:            hCV3215348
SNP Position Transcript:  453
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,33|T,5)   total(C,58|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,9)   caucasian(C,31|T,5)   total(C,50|T,14)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,11)   caucasian(C,32|T,6)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 99, (H,CAC)   (H,CAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 99, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8726):
CGGAGGCCCGCGCTGCCCAAGAGCGCCACGGGCGGGGCGGGGCCGGCGGCGGGCTGCGGGCGCGGCCGGACGG
K
AGTTCCCCGGAGAAGGATCCTGCAGCCCGAGTCCCGTCCTCAGGCTTCCCCAATCCAGGGGACTCGGCGCCGGGACGCTGCTATGGACGACATTTTCACT
Celera SNP ID:            hCV3215333
SNP Position Transcript:  74
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|G,5)   total(G,5|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1159, None   



Context             (SEQ ID NO:8727):
CCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCC
R
TATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCCT
Celera SNP ID:            hCV3215350
SNP Position Transcript:  975
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,6|G,34)   total(A,20|G,58)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,5|G,33)   total(A,19|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,6|G,32)   total(A,18|G,54)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 273, (P,CCA)   (P,CCG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   JBIC-allele(A,541|G,956)   total(G,956|A,541)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 273, (P,CCA)   (P,CCG)      273, (P,CCG)   (P,CCA)      



Context             (SEQ ID NO:8728):
CGTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGC
Y
TTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATG
Celera SNP ID:            hCV3215351
SNP Position Transcript:  1074
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,19|T,19)   total(C,48|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,14)   total(C,53|T,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,18|T,16)   total(C,51|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 306, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,9)      total(C,9|T,2) ;JBIC-allele(T,198|C,1297)   total(C,1297|T,198)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1159, 306, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8729):
AGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGC
Y
TGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAG
Celera SNP ID:            hCV9599896
SNP Position Transcript:  1533
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1159, None   



Gene Number:                 179
Celera Gene:                 hCG24084 - 145000146742679
Celera Transcript:           hCT1969155 - 145000146742696
Public Transcript Accession: NM_004517
Celera Protein:              hCP1783069 - 197000069374779
Public Protein Accession:    NP_004508
Gene Symbol:                 ILK
Protein Name:                integrin-linked kinase;P59
Celera Genomic Axis:         GA_x5YUV32VW1T(44267567..44274611)
Chromosome:                  Chr11
OMIM number:                 602366
OMIM Information:            INTEGRIN-LINKED KINASE;ILK


Transcript Sequence (SEQ ID NO:463):
TGCGAGAGGACCCGCGCCCCCTGTCACCCCTCACTTCTCCTGAGTCCCAAAGGATAAAGCTTGGGGTTCATCCTCCTTCCCTGGATCACTCCACAGTCCT
CAGGCTTCCCCAATCCAGGGGACTCGGCGCCGGGACGCTGCTATGGACGACATTTTCACTCAGTGCCGGGAGGGCAACGCAGTCGCCGTTCGCCTGTGGC
TGGACAACACGGAGAACGACCTCAACCAGGGGGACGATCATGGCTTCTCCCCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCTGTGGTTGAGATGTT
GATCATGCGGGGGGCACGGATCAATGTAATGAACCGTGGGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTA
TTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACAYGGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGG
TGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATGGAGAGATGCCTGTGGACAAAGCCAAGGCACCCCTGAGAGAGCTTCTCCGAGAGCGGGCAGA
GAAGATGGGCCAGAATCTCAACCGTATTCCATACAAGGACACATTCTGGAAGGGGACCACCCGCACTCGGCCCCGAAATGGAACCCTGAACAAACACTCT
GGCATTGACTTCAAACAGCTTAACTTCCTGACGAAGCTCAACGAGAATCACTCTGGAGAGCTATGGAAGGGCCGCTGGCAGGGCAATGACATTGTCGTGA
AGGTGCTGAAGGTTCGAGACTGGAGTACAAGGAAGAGCAGGGACTTCAATGAAGAGTGTCCCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGT
GCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCCRTATGGATCCCTCTACAATGTACTACATGAAGGCACCAAT
TTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCYTTCCTACACACACTAGAGCCCCTCATCCCACGACATGCAC
TCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATGTCAAGTTCTCTTTCCAATGTCCTGGTCGCATGTATGCACC
TGCCTGGGTAGCCCCCGAAGCTCTGCAGAAGAAGCCTGAAGACACAAACAGACGCTCAGCAGACATGTGGAGTTTTGCAGTGCTTCTGTGGGAACTGGTG
ACACGGGAGGTACCCTTTGCTGACCTCTCCAATATGGAGATTGGAATGAAGGTGGCATTGGAAGGCCTTCGGCCTACCATCCCACCAGGTATTTCCCCTC
ATGTGTGTAAGCTCATGAAGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTA
GGACTGGAAGGTCCTTGCYTGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCC
AGTCATGGTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACAT
GGTGTCTYCCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC

Protein Sequence    (SEQ ID NO:1160):
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHG
NVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLN
ENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALD
MARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI
GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK


SNP Information

Context             (SEQ ID NO:8730):
GTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCT
Y
CCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC
Celera SNP ID:            hCV15929905
SNP Position Transcript:  1708
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1160, None   



Context             (SEQ ID NO:8731):
GGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACA
Y
GGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATG
Celera SNP ID:            hCV3215348
SNP Position Transcript:  439
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,33|T,5)   total(C,58|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,9)   caucasian(C,31|T,5)   total(C,50|T,14)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,11)   caucasian(C,32|T,6)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 99, (H,CAC)   (H,CAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 99, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8732):
CCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCC
R
TATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCCT
Celera SNP ID:            hCV3215350
SNP Position Transcript:  961
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,6|G,34)   total(A,20|G,58)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,5|G,33)   total(A,19|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,6|G,32)   total(A,18|G,54)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 273, (P,CCA)   (P,CCG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   JBIC-allele(A,541|G,956)   total(G,956|A,541)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 273, (P,CCA)   (P,CCG)      273, (P,CCG)   (P,CCA)      



Context             (SEQ ID NO:8733):
CGTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGC
Y
TTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATG
Celera SNP ID:            hCV3215351
SNP Position Transcript:  1060
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,19|T,19)   total(C,48|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,14)   total(C,53|T,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,18|T,16)   total(C,51|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 306, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,9)      total(C,9|T,2) ;JBIC-allele(T,198|C,1297)   total(C,1297|T,198)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1160, 306, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8734):
AGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGC
Y
TGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAG
Celera SNP ID:            hCV9599896
SNP Position Transcript:  1519
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1160, None   



Gene Number:                 179
Celera Gene:                 hCG24084 - 145000146742679
Celera Transcript:           hCT1969156 - 145000146742680
Public Transcript Accession: NM_004517
Celera Protein:              hCP1783052 - 197000069374778
Public Protein Accession:    NP_004508
Gene Symbol:                 ILK
Protein Name:                integrin-linked kinase;P59
Celera Genomic Axis:         GA_x5YUV32VW1T(44267567..44274259)
Chromosome:                  Chr11
OMIM number:                 602366
OMIM Information:            INTEGRIN-LINKED KINASE;ILK


Transcript Sequence (SEQ ID NO:464):
AGGATAAAGCTTGGGGTTCATCCTCCTTCCCTGGATCACTCCACAGTCCTCAGGCTTCCCCAATCCAGGGGACTCGGCGCCGGGACGCTGCTATGGACGA
CATTTTCACTCAGTGCCGGGAGGGCAACGCAGTCGCCGTTCGCCTGTGGCTGGACAACACGGAGAACGACCTCAACCAGGGGGACGATCATGGCTTCTCC
CCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCTGTGGTTGAGATGTTGATCATGCGGGGGGCACGGATCAATGTAATGAACCGTGGGGATGACACCC
CCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACAYGGGAATGTGCC
CCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATGGAGAGATGCCT
GTGGACAAAGCCAAGGCACCCCTGAGAGAGCTTCTCCGAGAGCGGGCAGAGAAGATGGGCCAGAATCTCAACCGTATTCCATACAAGGACACATTCTGGA
AGGGGACCACCCGCACTCGGCCCCGAAATGGAACCCTGAACAAACACTCTGGCATTGACTTCAAACAGCTTAACTTCCTGACGAAGCTCAACGAGAATCA
CTCTGGAGAGCTATGGAAGGGCCGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGAAGGTTCGAGACTGGAGTACAAGGAAGAGCAGGGACTTCAAT
GAAGAGTGTCCCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACAC
ACTGGATGCCRTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAG
GGGCATGGCYTTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGC
ATGGCTGATGTCAAGTTCTCTTTCCAATGTCCTGGTCGCATGTATGCACCTGCCTGGGTAGCCCCCGAAGCTCTGCAGAAGAAGCCTGAAGACACAAACA
GACGCTCAGCAGACATGTGGAGTTTTGCAGTGCTTCTGTGGGAACTGGTGACACGGGAGGTACCCTTTGCTGACCTCTCCAATATGGAGATTGGAATGAA
GGTGGCATTGGAAGGCCTTCGGCCTACCATCCCACCAGGTATTTCCCCTCATGTGTGTAAGCTCATGAAGATCTGCATGAATGAAGACCCTGCAAAGCGA
CCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGCYTGAACTCCAGAGGTGTCGGGACATGGTTGGG
GGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTA
CCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCTYCCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTT
ATTATGAAAAC

Protein Sequence    (SEQ ID NO:1161):
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHG
NVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLN
ENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALD
MARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI
GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK


SNP Information

Context             (SEQ ID NO:8735):
GTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCT
Y
CCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC
Celera SNP ID:            hCV15929905
SNP Position Transcript:  1658
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1161, None   



Context             (SEQ ID NO:8736):
GGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACA
Y
GGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATG
Celera SNP ID:            hCV3215348
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,33|T,5)   total(C,58|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,9)   caucasian(C,31|T,5)   total(C,50|T,14)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,11)   caucasian(C,32|T,6)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 99, (H,CAC)   (H,CAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 99, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8737):
CCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCC
R
TATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCCT
Celera SNP ID:            hCV3215350
SNP Position Transcript:  911
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,6|G,34)   total(A,20|G,58)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,5|G,33)   total(A,19|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,6|G,32)   total(A,18|G,54)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 273, (P,CCA)   (P,CCG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   JBIC-allele(A,541|G,956)   total(G,956|A,541)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 273, (P,CCA)   (P,CCG)      273, (P,CCG)   (P,CCA)      



Context             (SEQ ID NO:8738):
CGTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGC
Y
TTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATG
Celera SNP ID:            hCV3215351
SNP Position Transcript:  1010
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,19|T,19)   total(C,48|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,14)   total(C,53|T,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,18|T,16)   total(C,51|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 306, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,9)      total(C,9|T,2) ;JBIC-allele(T,198|C,1297)   total(C,1297|T,198)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1161, 306, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8739):
AGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGC
Y
TGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAG
Celera SNP ID:            hCV9599896
SNP Position Transcript:  1469
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1161, None   



Gene Number:                 179
Celera Gene:                 hCG24084 - 145000146742679
Celera Transcript:           hCT1969153 - 145000146742730
Public Transcript Accession: NM_004517
Celera Protein:              hCP1783064 - 197000069374781
Public Protein Accession:    NP_004508
Gene Symbol:                 ILK
Protein Name:                integrin-linked kinase;P59
Celera Genomic Axis:         GA_x5YUV32VW1T(44267567..44274625)
Chromosome:                  Chr11
OMIM number:                 602366
OMIM Information:            INTEGRIN-LINKED KINASE;ILK


Transcript Sequence (SEQ ID NO:465):
CGAGTCCCGGTGAGTGCGAGAGGACCCGCGCCCCCTGTCACCCCTCACTTCTCCTGAGTCCCAATCCTCAGGCTTCCCCAATCCAGGGGACTCGGCGCCG
GGACGCTGCTATGGACGACATTTTCACTCAGTGCCGGGAGGGCAACGCAGTCGCCGTTCGCCTGTGGCTGGACAACACGGAGAACGACCTCAACCAGGGG
GACGATCATGGCTTCTCCCCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCTGTGGTTGAGATGTTGATCATGCGGGGGGCACGGATCAATGTAATGA
ACCGTGGGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAA
TGAACAYGGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAAC
AAGTATGGAGAGATGCCTGTGGACAAAGCCAAGGCACCCCTGAGAGAGCTTCTCCGAGAGCGGGCAGAGAAGATGGGCCAGAATCTCAACCGTATTCCAT
ACAAGGACACATTCTGGAAGGGGACCACCCGCACTCGGCCCCGAAATGGAACCCTGAACAAACACTCTGGCATTGACTTCAAACAGCTTAACTTCCTGAC
GAAGCTCAACGAGAATCACTCTGGAGAGCTATGGAAGGGCCGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGAAGGTTCGAGACTGGAGTACAAGG
AAGAGCAGGGACTTCAATGAAGAGTGTCCCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTC
ATCCTACTCTCATCACACACTGGATGCCRTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTT
TGCTTTGGACATGGCAAGGGGCATGGCYTTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGAC
ATGACTGCCCGAATTAGCATGGCTGATGTCAAGTTCTCTTTCCAATGTCCTGGTCGCATGTATGCACCTGCCTGGGTAGCCCCCGAAGCTCTGCAGAAGA
AGCCTGAAGACACAAACAGACGCTCAGCAGACATGTGGAGTTTTGCAGTGCTTCTGTGGGAACTGGTGACACGGGAGGTACCCTTTGCTGACCTCTCCAA
TATGGAGATTGGAATGAAGGTGGCATTGGAAGGCCTTCGGCCTACCATCCCACCAGGTATTTCCCCTCATGTGTGTAAGCTCATGAAGATCTGCATGAAT
GAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGCYTGAACTCCAGAGG
TGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAGCCATGGGGTCCAT
CCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCTYCCAACATGGGAGGGATCAGCCCCG
CCTGTCACAATAAAGTTTATTATGAAAAC

Protein Sequence    (SEQ ID NO:1162):
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHG
NVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLN
ENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALD
MARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI
GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK


SNP Information

Context             (SEQ ID NO:8740):
GTACTACCCCAGCCATGGGGTCCATCCCCTTCCCCCATCCCTACCACTGTGGCCCCAAGAGGGGCGGGCTCAGAGCTTTGTCACTTGCCACATGGTGTCT
Y
CCAACATGGGAGGGATCAGCCCCGCCTGTCACAATAAAGTTTATTATGAAAAC
Celera SNP ID:            hCV15929905
SNP Position Transcript:  1676
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1162, None   



Context             (SEQ ID NO:8741):
GGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGGACACCGTGATATTGTACAGAAGCTATTGCAGTACAAGGCAGACATCAATGCAGTGAATGAACA
Y
GGGAATGTGCCCCTGCACTATGCCTGTTTTTGGGGCCAAGATCAAGTGGCAGAGGACCTGGTGGCAAATGGGGCCCTTGTCAGCATCTGTAACAAGTATG
Celera SNP ID:            hCV3215348
SNP Position Transcript:  407
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,11)   caucasian(C,33|T,5)   total(C,58|T,16)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,9)   caucasian(C,31|T,5)   total(C,50|T,14)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 99, (H,CAC)   (H,CAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,11)   caucasian(C,32|T,6)   total(C,53|T,17)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 99, (H,CAC)   (H,CAT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 99, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:8742):
CCCGGCTCAGGATTTTCTCGCATCCAAATGTGCTCCCAGTGCTAGGTGCCTGCCAGTCTCCACCTGCTCCTCATCCTACTCTCATCACACACTGGATGCC
R
TATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGCCT
Celera SNP ID:            hCV3215350
SNP Position Transcript:  929
SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,6|G,34)   total(A,20|G,58)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14|G,24)   caucasian(A,5|G,33)   total(A,19|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 273, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,22)   caucasian(A,6|G,32)   total(A,18|G,54)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 273, (P,CCA)   (P,CCG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   JBIC-allele(A,541|G,956)   total(G,956|A,541)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 273, (P,CCA)   (P,CCG)      273, (P,CCG)   (P,CCA)      



Context             (SEQ ID NO:8743):
CGTATGGATCCCTCTACAATGTACTACATGAAGGCACCAATTTCGTCGTGGACCAGAGCCAGGCTGTGAAGTTTGCTTTGGACATGGCAAGGGGCATGGC
Y
TTCCTACACACACTAGAGCCCCTCATCCCACGACATGCACTCAATAGCCGTAGTGTAATGATTGATGAGGACATGACTGCCCGAATTAGCATGGCTGATG
Celera SNP ID:            hCV3215351
SNP Position Transcript:  1028
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,19|T,19)   total(C,48|T,28)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,24|T,14)   total(C,53|T,19)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 306, (A,GCC)   (A,GCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,18|T,16)   total(C,51|T,21)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 306, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,9)      total(C,9|T,2) ;JBIC-allele(T,198|C,1297)   total(C,1297|T,198)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1162, 306, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8744):
AGATCTGCATGAATGAAGACCCTGCAAAGCGACCCAAATTTGACATGATTGTGCCTATCCTTGAGAAGATGCAGGACAAGTAGGACTGGAAGGTCCTTGC
Y
TGAACTCCAGAGGTGTCGGGACATGGTTGGGGGAATGCACCTCCCCAAAGCAGCAGGCCTCTGGTTGCCTCCCCCGCCTCCAGTCATGGTACTACCCCAG
Celera SNP ID:            hCV9599896
SNP Position Transcript:  1487
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1162, None   



Gene Number:                 180
Celera Gene:                 hCG24334 - 149000145776913
Celera Transcript:           hCT15448 - 149000145776914
Public Transcript Accession: NM_004390
Celera Protein:              hCP41560 - 197000064936872
Public Protein Accession:    NP_004381
Gene Symbol:                 CTSH
Protein Name:                cathepsin H;CPSB;MGC1519
Celera Genomic Axis:         GA_x5YUV32W5LP(3476447..3499791)
Chromosome:                  Chr15
OMIM number:                 116820
OMIM Information:            CATHEPSIN H;CTSH


Transcript Sequence (SEQ ID NO:466):
TCCACGCTCGTGCCGCCCCCCCCCGCGCTCCCAGTTGACGCTCTGGGCCGCCACCTCCGCGGACCCTGAGCGCAAGAGCCAAGCCGCCAGCGCTGCKATG
TGGGCCACGCTGCCGCTGCTCTGCGCCRGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCRCCGAACTGTSCGTGAACTCCTTAGAGAAGTTTCACT
TCAAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCCCA
CAACAATGGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATGAGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCAGAGCCTCAGAAT
TGCTCAGCCACCAAAAGTAACTACCTTCGAGGTACTGGTCCCTACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATC
AGGGTGCCTGCGGCAGTTGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCRATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGSGGAACAGCA
GCTGGTGGACTGCGCCCAGGACTTCAATAATYACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGT
GAAGACACCTACCCCTACCAGGGCAAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATG
ACGAGGAAGCGATGGTGGAGGCTGTGGCCCTCTACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACSGGCATCTACTC
CAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGATCGTGAAAAAC
TCTTGGGGTCCCCAGTGGGGAATGAACGGGTACTTCCTCATCGAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGG
TGTGAGCCGTGGCAGCCGCAGCGCAGACTGGCGGAGAAGKAGAGGAAYGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGARGAAGTTGTGGGGAGA
TCCACTGGGACCCCCAACATTYTGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCMCCATGAGCTCACCCGTGTCTATGACG
CAAAGATCACCAGCCATGTGCCTTAGTGTCCTTYTTAACAGACTCAAACCACATGGACCACRAATATTCTTTCTGTCCAGAAGGRCTACTTTCCACATAT
AGAGCTCCAGGGACTGTYTTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCCCAGATGGAGCATGCTGGTCCTGGGCCATGACTCAAACC
A

Protein Sequence    (SEQ ID NO:1163):
MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQ
NCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIM
GEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVK
NSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV


SNP Information

Context             (SEQ ID NO:8745):
CGCAGACTGGCGGAGAAGGAGAGGAACGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGAGGAAGTTGTGGGGAGATCCACTGGGACCCCCAACATT
Y
TGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCACCATGAGCTCACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCC
Celera SNP ID:            hCV27467378
SNP Position Transcript:  1222
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8746):
ACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCACGAATATTCTTTCTGTCCAGAAGG
R
CTACTTTCCACATATAGAGCTCCAGGGACTGTCTTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCCCAGATGGAGCATGCTGGTCCTGG
Celera SNP ID:            hCV7509790
SNP Position Transcript:  1385
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8747):
GTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCACGAATATTCTTTCTGTCCAGAAGGGCTACTTTCCACATATAGAGCTCCAGGGACTGT
Y
TTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCCCAGATGGAGCATGCTGGTCCTGGGCCATGACTCAAACCA
Celera SNP ID:            hCV7509791
SNP Position Transcript:  1418
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8748):
CACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGACTTCAATAAT
Y
ACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTACCCCTACCAGGGCAAGGATGG
Celera SNP ID:            hCV7509783
SNP Position Transcript:  632
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 179, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:8749):
TCCACGCTCGTGCCGCCCCCCCCCGCGCTCCCAGTTGACGCTCTGGGCCGCCACCTCCGCGGACCCTGAGCGCAAGAGCCAAGCCGCCAGCGCTGC
K
ATGTGGGCCACGCTGCCGCTGCTCTGCGCCGGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCGCCGAACTGTGCGTGAACTCCTTAGAGAAGTTTC
Celera SNP ID:            hCV7509776
SNP Position Transcript:  97
SNP Source:               Applera
Population(Allele,Count): african american(G,13|T,25)   caucasian(G,11|T,27)   total(G,24|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1163, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8750):
AAGAGCCAAGCCGCCAGCGCTGCGATGTGGGCCACGCTGCCGCTGCTCTGCGCCGGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCGCCGAACTGT
S
CGTGAACTCCTTAGAGAAGTTTCACTTCAAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCC
Celera SNP ID:            hCV7509777
SNP Position Transcript:  174
SNP Source:               Applera
Population(Allele,Count): african american(C,12|G,22)   caucasian(C,25|G,15)   total(C,37|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 26, (S,TCC)   (C,TGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   JBIC-allele(C,157|G,1346)   total(G,1346|C,157) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 26, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:8751):
AGGAGGAGTTCCACCATGAGCTCACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCAC
R
AATATTCTTTCTGTCCAGAAGGGCTACTTTCCACATATAGAGCTCCAGGGACTGTCTTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCC
Celera SNP ID:            hCV7509785
SNP Position Transcript:  1362
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8752):
CCTGCCCTGGAGGAAGTTGTGGGGAGATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCC
M
CCATGAGCTCACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCACGAATATTCTTTCT
Celera SNP ID:            hCV27469815
SNP Position Transcript:  1274
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8753):
CCCTGAGCGCAAGAGCCAAGCCGCCAGCGCTGCGATGTGGGCCACGCTGCCGCTGCTCTGCGCCGGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCC
R
CCGAACTGTGCGTGAACTCCTTAGAGAAGTTTCACTTCAAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCA
Celera SNP ID:            hCV25604158
SNP Position Transcript:  164
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 23, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8754):
GTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGG
S
GGAACAGCAGCTGGTGGACTGCGCCCAGGACTTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGG
Celera SNP ID:            hCV25604177
SNP Position Transcript:  591
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 165, (A,GCG)   (G,GGG)   



Context             (SEQ ID NO:8755):
TGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGC
R
ATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGACTTCAATAATCACGGCTGCCAAGGGGGTCTCCCCA
Celera SNP ID:            hCV11943471
SNP Position Transcript:  556
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIG-allele(A,258|G,481)   total(G,481|A,258)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1163, 153, (A,GCA)   (A,GCG)      153, (A,GCG)   (A,GCA)      



Context             (SEQ ID NO:8756):
CGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGTGAGCCGTGGCAGCCGCAGCGCAGACTGGCGGAGAAGGAGAGGAA
Y
GGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGAGGAAGTTGTGGGGAGATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCCCAGCCTGG
Celera SNP ID:            hCV11943480
SNP Position Transcript:  1148
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,39|T,1)   total(C,76|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8757):
TACCCCATCCCTCTGGTGTGAGCCGTGGCAGCCGCAGCGCAGACTGGCGGAGAAGGAGAGGAACGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGA
R
GAAGTTGTGGGGAGATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCACCATGAGCTCA
Celera SNP ID:            hCV11943481
SNP Position Transcript:  1185
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8758):
CTCCCAGTTGACGCTCTGGGCCGCCACCTCCGCGGACCCTGAGCGCAAGAGCCAAGCCGCCAGCGCTGCGATGTGGGCCACGCTGCCGCTGCTCTGCGCC
R
GGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCGCCGAACTGTGCGTGAACTCCTTAGAGAAGTTTCACTTCAAGTCATGGATGTCTAAGCACCGTAA
Celera SNP ID:            hCV15882348
SNP Position Transcript:  128
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,35)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 11, (R,AGG)   (G,GGG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1163, 11, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:8759):
TCACAATCTATGACGAGGAAGCGATGGTGGAGGCTGTGGCCCTCTACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAAC
S
GGCATCTACTCCAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGA
Celera SNP ID:            hCV11943476
SNP Position Transcript:  889
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   Caucasian(G,84)   no_pop(G,-|C,-)   total(G,84)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1163, 264, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:8760):
ATCGAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGTGAGCCGTGGCAGCCGCAGCGCAGACTGGCGGAGAAG
K
AGAGGAACGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGAGGAAGTTGTGGGGAGATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCC
Celera SNP ID:            hCV11943479
SNP Position Transcript:  1140
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Context             (SEQ ID NO:8761):
CTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCACCATGAGCTCACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTT
Y
TTAACAGACTCAAACCACATGGACCACGAATATTCTTTCTGTCCAGAAGGGCTACTTTCCACATATAGAGCTCCAGGGACTGTCTTTTCTGTATTCGCTG
Celera SNP ID:            hCV27468261
SNP Position Transcript:  1334
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1163, None   



Gene Number:                 181
Celera Gene:                 hCG24602 - 66000116051721
Celera Transcript:           hCT15720 - 66000116051777
Public Transcript Accession: NM_033467
Celera Protein:              hCP41722 - 197000069425791
Public Protein Accession:    NP_258428
Gene Symbol:                 MMEL2
Protein Name:                membrane metallo-endopeptidase-like 2;NL2
Celera Genomic Axis:         GA_x5YUV32VTH2(21604..64068)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:467):
GGAAATCCACCCACTTGGCCCAGCTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAA
AGGTTCCTCCGCGGTGCTCTCCCSTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCMGTGGGGATGGTGGAGAGCGCYGGCCGTGCAGGGCAGAAGC
GCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCA
GCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACCWTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAG
GTCTGCACCACCCCTGGCTGCGTGATAGCAGCYGCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCG
GAGGCTGGCTGCGGCGCCACGTGATCCCTGAGACCAACTCAAGATACAGCATCTTTGACGTCCTCCGCGACGAGCTGGAGGTCATCCTCAAAGCGGTGCT
GGAGAATTCGACTGCCAAGGACCGGCCGGCTGTGGAGAAGGCCAGGACGCTGTACCGCTCCTGCATGAACCAGAGTGTGATAGAGAAGCGAGGCTCTCAG
CCCCTGCTGGACATCTTGGAGGTGGTGGGAGGCTGGCCGGTGGCGATGGACAGGTGGAACGAGACCGTAGGACTCGAGTGGGAGCTGGAGCGGCAGCTGG
CGCTGATGAACTCACAGTTCAACAGGCGCGTCCTCATCGACCTCTTCATCTGGAACGACGACCAGAACTCCAGCCGGCACATCATCTACATAGACCAGCC
CACCTTGGGCATGCCCTCCCGAGAGTACTACTTCAACGGCGGCAGCAACCGGAAGGTGCGGGAAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTG
CTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGTKCTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTAC
CCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAAGCCAGTTTGGCCTGAAGGGATTTAACTGGACTCTGTT
CATACAAACTGTGCTATCCTCTGTCAAAATCAAGCTGCTGCCAGATGAGGAAGTGGTGGTCTATGGCATCCCCTACCTGCAGAACCTTGAAAACATCATC
GACACCTACTCAGCCAGGACCATACAGAACTACCTGGTCTGGCGCCTGGTGCTGGACCGCATTGGTAGCCTAAGCCAGAGATTCAAGGACACACGAGTGA
ACTACCGCAAGGCGCTGTTTGGCACAATGGTGGAGGAGGTGCGCTGGCGTGAATGTGTGGGCTACGTCAACAGCAACATGGAGAACGCCGTGGGCTCCCT
CTACGTCAGGGAGGCGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGC
TGGATGGACGAGGARTCCAAGAAGAAGGCRCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGAYGAACAGGC
GCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGCCTCAGGAA
GCTTCGGGAAAAGGTGGACCCAAATCTCTGGATCATCGGGGCGGCGGTGGTCAATGCGTTCTACTCCCCAAACCGAAACCAGATTGTATTCCCTGCCGGG
ATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCACRCACGGCTTTGACG
ACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGTGCATGATCTACCA
GTACGGCAACTACTCCTGGGACCTGGCAGACGAACAGAACGTGAACGGATTCAACACCCTTGGGGAAAACATTGCTGACAACGGAGGGGTGCGGCAAGCC
TATAAGGCCTACCTCAAGTGGATGGCAGAGGGTGGCAAGGACCAGCAGCTGCCCGGCCTGGATCTCACCCATGAGCAGCTCTTCTTCATCAACTATGCCC
AGGTGTGGTGCGGGTCCTACCGGCCCGAGTTCGCCATCCAATCCATCAAGACAGACGTCCACAGTCCCCTGAAGTACAGGCAAGGTACTGGGGTCGCTGC
AGAACCTGGCCGCCTTCGCAGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGC
TGTGCGGCCCACGCCCACCYGCTGCTCRGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCT
GCCTGCCAGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCAC
AGACACCMGCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGC
TTCAGACTTGAGCTAAGTAAATGCTTCAAAGAAATCAGAGGCCTTGCTTGTCTGGGAGGGACCAGGGTGGGTAAACAGGTAGCAGTGGTCTTGGGCAAAA
CAGCTGCCCGGGGGTGGGAGAGAGTGACAGCTGGGAGCTGATGGGGAGGGAGCCAGTTCCAGTCAGGTCTCCTAGGGTCC

Protein Sequence    (SEQ ID NO:1164):
MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAAR
ILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWP
VAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLV
WRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEK
AMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRQGTGVAAEPGRLRRHVPLCPGHPHAPQGAMPRVVAKALPRCAAHAHPLLGGIC
AKVQLAATQCTSRPGQPCQACLPGLCAWPRVQPPA


SNP Information

Context             (SEQ ID NO:8762):
AGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACC
Y
GCTGCTCGGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCC
Celera SNP ID:            hCV1974931
SNP Position Transcript:  2520
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,2|T,2)   total(C,34|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 794, (R,CGG)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   JBIG-allele(A,545|G,936)   total(G,936|A,545)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 794, (R,CGG)   (Q,CAG)      794, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:8763):
AGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGC
Y
GGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACG
Celera SNP ID:            hCV403761
SNP Position Transcript:  181
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,2)   total(C,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 14, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8764):
CGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCAGCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACC
W
TTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGCTGCCAGGATCCTCCAGAA
Celera SNP ID:            hCV26678896
SNP Position Transcript:  350
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|T,9)      total(A,1|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 71, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:8765):
GAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGA
Y
GAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGC
Celera SNP ID:            hCV1974927
SNP Position Transcript:  1692
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(T,2)   total(C,20|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 518, (T,ACG)   (M,ATG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 518, (T,ACG)   (M,ATG)      518, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:8766):
CTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCC
S
TCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGC
Celera SNP ID:            hCV27846354
SNP Position Transcript:  124
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,29)   total(C,1|G,59)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1164, None



Context             (SEQ ID NO:8767):
AGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCACAGACACC
M
GCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGCTTCAGACT
Celera SNP ID:            hCV8861420
SNP Position Transcript:  2708
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,9)   total(A,1|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1164, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,3)      total(T,1|G,3) ;JBIC-allele(T,266|G,1229)   total(G,1229|T,266)no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1164, None   



Context             (SEQ ID NO:8768):
TACAGGAGGAGAGGACCTTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGC
Y
GCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCGGAGGCTGGCTGCGGCGCCACGTGATCCCTGAGA
Celera SNP ID:            hCV403768
SNP Position Transcript:  433
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,8)   caucasian(T,6)   total(C,20|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 98, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 98, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8769):
CGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGA
R
TCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGT
Celera SNP ID:            hCV25602535
SNP Position Transcript:  1615
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 492, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8770):
TCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACCCGCTGCTC
R
GAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCCTGGCCTAG
Celera SNP ID:            hCV25602546
SNP Position Transcript:  2528
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,4)   total(A,1|G,33)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1164, 797, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:8771):
AGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCC
M
GTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGG
Celera SNP ID:            hCV11612949
SNP Position Transcript:  160
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 7, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:8772):
AAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTGCTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGT
K
CTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTACCCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAA
Celera SNP ID:            hCV9688496
SNP Position Transcript:  1063
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 308, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:8773):
TATTCCCTGCCGGGATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCAC
R
CACGGCTTTGACGACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGT
Celera SNP ID:            hCV25602556
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,8)   total(A,1|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 616, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8774):
GCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGC
R
CAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACT
Celera SNP ID:            hCV26678910
SNP Position Transcript:  1630
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1164, 497, (A,GCA)   (A,GCG)      



Gene Number:                 181
Celera Gene:                 hCG24602 - 66000116051721
Celera Transcript:           hCT2336580 - 66000116051722
Public Transcript Accession: NM_033467
Celera Protein:              hCP1882525 - 197000069425789
Public Protein Accession:    NP_258428
Gene Symbol:                 MMEL2
Protein Name:                membrane metallo-endopeptidase-like 2;NL2
Celera Genomic Axis:         GA_x5YUV32VTH2(25045..63925)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:468):
GTTCCTCCGCGGTGCTCTCCCSTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCMGTGGGGATGGTGGAGAGCGCYGGCCGTGCAGGGCAGAAGCGC
CCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCAGC
TGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACCWTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGT
CTGCACCACCCCTGGCTGCGTGATAGCAGCYGCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCGGA
GGCTGGCTGCGGCGCCACGTGATCCCTGAGACCAACTCAAGATACAGCATCTTTGACGTCCTCCGCGACGAGCTGGAGGTCATCCTCAAAGCGGTGCTGG
AGAATTCGACTGCCAAGGACCGGCCGGCTGTGGAGAAGGCCAGGACGCTGTACCGCTCCTGCATGAACCAGAGTGTGATAGAGAAGCGAGGCTCTCAGCC
CCTGCTGGACATCTTGGAGGTGGTGGGAGGCTGGCCGGTGGCGATGGACAGGTGGAACGAGACCGTAGGACTCGAGTGGGAGCTGGAGCGGCAGCTGGCG
CTGATGAACTCACAGTTCAACAGGCGCGTCCTCATCGACCTCTTCATCTGGAACGACGACCAGAACTCCAGCCGGCACATCATCTACATAGACCAGCCCA
CCTTGGGCATGCCCTCCCGAGAGTACTACTTCAACGGCGGCAGCAACCGGAAGGTGCGGGAAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTGCT
GCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGTKCTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTACCC
CAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAAGCCAGTTTGGCCTGAAGGGATTTAACTGGACTCTGTTCA
TACAAACTGTGCTATCCTCTGTCAAAATCAAGCTGCTGCCAGATGAGGAAGTGGTGGTCTATGGCATCCCCTACCTGCAGAACCTTGAAAACATCATCGA
CACCTACTCAGCCAGGACCATACAGAACTACCTGGTCTGGCGCCTGGTGCTGGACCGCATTGGTAGCCTAAGCCAGAGATTCAAGGACACACGAGTGAAC
TACCGCAAGGCGCTGTTTGGCACAATGGTGGAGGAGGTGCGCTGGCGTGAATGTGTGGGCTACGTCAACAGCAACATGGAGAACGCCGTGGGCTCCCTCT
ACGTCAGGGAGGCGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTG
GATGGACGAGGARTCCAAGAAGAAGGCRCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGAYGAACAGGCGC
CTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGCCTCAGGAAGC
TTCGGGAAAAGGTGGACCCAAATCTCTGGATCATCGGGGCGGCGGTGGTCAATGCGTTCTACTCCCCAAACCGAAACCAGATTGTATTCCCTGCCGGGAT
CCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCACRCACGGCTTTGACGAC
AATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGTGCATGATCTACCAGT
ACGGCAACTACTCCTGGGACCTGGCAGACGAACAGAACGTGAACGGATTCAACACCCTTGGGGAAAACATTGCTGACAACGGAGGGGTGCGGCAAGCCTA
TAAGGCCTACCTCAAGTGGATGGCAGAGGGTGGCAAGGACCAGCAGCTGCCCGGCCTGGATCTCACCCATGAGCAGCTCTTCTTCATCAACTATGCCCAG
GTGTGGTGCGGGTCCTACCGGCCCGAGTTCGCCATCCAATCCATCAAGACAGACGTCCACAGTCCCCTGAAGTACAGGGTACTGGGGTCGCTGCAGAACC
TGGCCGCCTTCGCAGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCG
GCCCACGCCCACCYGCTGCTCRGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGC
CAGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCACAGACAC
CMGCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGCTTCAGA
CTTGAGCTAAGTAAATGCTTCAAAGAAATCA

Protein Sequence    (SEQ ID NO:1165):
MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAAR
ILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWP
VAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLV
WRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEK
AMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW


SNP Information

Context             (SEQ ID NO:8775):
AGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACC
Y
GCTGCTCGGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCC
Celera SNP ID:            hCV1974931
SNP Position Transcript:  2414
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,2|T,2)   total(C,34|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1165, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   JBIG-allele(A,545|G,936)   total(G,936|A,545)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1165, None   



Context             (SEQ ID NO:8776):
GTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGC
Y
GGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACG
Celera SNP ID:            hCV403761
SNP Position Transcript:  79
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,2)   total(C,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 14, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8777):
CGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCAGCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACC
W
TTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGCTGCCAGGATCCTCCAGAA
Celera SNP ID:            hCV26678896
SNP Position Transcript:  248
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|T,9)      total(A,1|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1165, 71, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:8778):
GAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGA
Y
GAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGC
Celera SNP ID:            hCV1974927
SNP Position Transcript:  1590
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(T,2)   total(C,20|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1165, 518, (T,ACG)   (M,ATG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1165, 518, (T,ACG)   (M,ATG)      518, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:8779):
GTTCCTCCGCGGTGCTCTCCC
S
TCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGC
Celera SNP ID:            hCV27846354
SNP Position Transcript:  22
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,29)   total(C,1|G,59)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1165, None



Context             (SEQ ID NO:8780):
AGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCACAGACACC
M
GCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGCTTCAGACT
Celera SNP ID:            hCV8861420
SNP Position Transcript:  2602
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,9)   total(A,1|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1165, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,3)      total(T,1|G,3) ;JBIC-allele(T,266|G,1229)   total(G,1229|T,266)no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1165, None   



Context             (SEQ ID NO:8781):
TACAGGAGGAGAGGACCTTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGC
Y
GCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCGGAGGCTGGCTGCGGCGCCACGTGATCCCTGAGA
Celera SNP ID:            hCV403768
SNP Position Transcript:  331
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,8)   caucasian(T,6)   total(C,20|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 98, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 98, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8782):
CGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGA
R
TCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGT
Celera SNP ID:            hCV25602535
SNP Position Transcript:  1513
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 492, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8783):
TCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACCCGCTGCTC
R
GAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCCTGGCCTAG
Celera SNP ID:            hCV25602546
SNP Position Transcript:  2422
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,4)   total(A,1|G,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1165, None



Context             (SEQ ID NO:8784):
GTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCC
M
GTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGG
Celera SNP ID:            hCV11612949
SNP Position Transcript:  58
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 7, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:8785):
AAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTGCTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGT
K
CTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTACCCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAA
Celera SNP ID:            hCV9688496
SNP Position Transcript:  961
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 308, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:8786):
TATTCCCTGCCGGGATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCAC
R
CACGGCTTTGACGACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGT
Celera SNP ID:            hCV25602556
SNP Position Transcript:  1885
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,8)   total(A,1|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 616, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8787):
GCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGC
R
CAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACT
Celera SNP ID:            hCV26678910
SNP Position Transcript:  1528
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1165, 497, (A,GCA)   (A,GCG)      



Gene Number:                 181
Celera Gene:                 hCG24602 - 66000116051721
Celera Transcript:           hCT2336579 - 66000116051805
Public Transcript Accession: NM_033467
Celera Protein:              hCP1882528 - 197000069425792
Public Protein Accession:    NP_258428
Gene Symbol:                 MMEL2
Protein Name:                membrane metallo-endopeptidase-like 2;NL2
Celera Genomic Axis:         GA_x5YUV32VTH2(21604..63568)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:469):
GGAAATCCACCCACTTGGCCCAGCTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAA
AGGTTCCTCCGCGGTGCTCTCCCSTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCMGTGGGGATGGTGGAGAGCGCYGGCCGTGCAGGGCAGAAGC
GCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCA
GCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACCWTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAG
GTCTGCACCACCCCTGGCTGCGTGATAGCAGCYGCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCG
GAGGCTGGCTGCGGCGCCACGTGATCCCTGAGACCAACTCAAGATACAGCATCTTTGACGTCCTCCGCGACGAGCTGGAGGTCATCCTCAAAGCGGTGCT
GGAGAATTCGACTGCCAAGGACCGGCCGGCTGTGGAGAAGGCCAGGACGCTGTACCGCTCCTGCATGAACCAGAGTGTGATAGAGAAGCGAGGCTCTCAG
CCCCTGCTGGACATCTTGGAGGTGGTGGGAGGCTGGCCGGTGGCGATGGACAGGTGGAACGAGACCGTAGGACTCGAGTGGGAGCTGGAGCGGCAGCTGG
CGCTGATGAACTCACAGTTCAACAGGCGCGTCCTCATCGACCTCTTCATCTGGAACGACGACCAGAACTCCAGCCGGCACATCATCTACATAGACCAGCC
CACCTTGGGCATGCCCTCCCGAGAGTACTACTTCAACGGCGGCAGCAACCGGAAGGTGCGGGAAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTG
CTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGTKCTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTAC
CCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAAGCCAGTTTGGCCTGAAGGGATTTAACTGGACTCTGTT
CATACAAACTGTGCTATCCTCTGTCAAAATCAAGCTGCTGCCAGATGAGGAAGTGGTGGTCTATGGCATCCCCTACCTGCAGAACCTTGAAAACATCATC
GACACCTACTCAGCCAGGACCATACAGAACTACCTGGTCTGGCGCCTGGTGCTGGACCGCATTGGTAGCCTAAGCCAGAGATTCAAGGACACACGAGTGA
ACTACCGCAAGGCGCTGTTTGGCACAATGGTGGAGGAGGTGCGCTGGCGTGAATGTGTGGGCTACGTCAACAGCAACATGGAGAACGCCGTGGGCTCCCT
CTACGTCAGGGAGGCGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGC
TGGATGGACGAGGARTCCAAGAAGAAGGCRCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGAYGAACAGGC
GCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGCCTCAGGAA
GCTTCGGGAAAAGGTGGACCCAAATCTCTGGATCATCGGGGCGGCGGTGGTCAATGCGTTCTACTCCCCAAACCGAAACCAGATTGTATTCCCTGCCGGG
ATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCACRCACGGCTTTGACG
ACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGTGCATGATCTACCA
GTACGGCAACTACTCCTGGGACCTGGCAGACGAACAGAACGTGAACGGATTCAACACCCTTGGGGAAAACATTGCTGACAACGGAGGGGTGCGGCAAGCC
TATAAGGCCTACCTCAAGTGGATGGCAGAGGGTGGCAAGGACCAGCAGCTGCCCGGCCTGGATCTCACCCATGAGCAGCTCTTCTTCATCAACTATGCCC
AGGTGTGGTGCGGGTCCTACCGGCCCGAGTTCGCCATCCAATCCATCAAGACAGACGTCCACAGTCCCCTGAAGGTACTGGGGTCGCTGCAGAACCTGGC
CGCCTTCGCAGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGG

Protein Sequence    (SEQ ID NO:1166):
MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAAR
ILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWP
VAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLV
WRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEK
AMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKVLGSLQNLAAFADTFHCARGTPMHPKERCRVW


SNP Information

Context             (SEQ ID NO:8788):
AGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGC
Y
GGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACG
Celera SNP ID:            hCV403761
SNP Position Transcript:  181
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,2)   total(C,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 14, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8789):
CGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCAGCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACC
W
TTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGCTGCCAGGATCCTCCAGAA
Celera SNP ID:            hCV26678896
SNP Position Transcript:  350
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|T,9)      total(A,1|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1166, 71, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:8790):
GAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGA
Y
GAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGC
Celera SNP ID:            hCV1974927
SNP Position Transcript:  1692
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(T,2)   total(C,20|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1166, 518, (T,ACG)   (M,ATG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1166, 518, (T,ACG)   (M,ATG)      518, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:8791):
CTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCC
S
TCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGC
Celera SNP ID:            hCV27846354
SNP Position Transcript:  124
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,29)   total(C,1|G,59)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1166, None



Context             (SEQ ID NO:8792):
TACAGGAGGAGAGGACCTTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGC
Y
GCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCGGAGGCTGGCTGCGGCGCCACGTGATCCCTGAGA
Celera SNP ID:            hCV403768
SNP Position Transcript:  433
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,8)   caucasian(T,6)   total(C,20|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 98, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 98, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8793):
CGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGA
R
TCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGT
Celera SNP ID:            hCV25602535
SNP Position Transcript:  1615
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 492, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8794):
AGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCC
M
GTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGG
Celera SNP ID:            hCV11612949
SNP Position Transcript:  160
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 7, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:8795):
AAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTGCTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGT
K
CTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTACCCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAA
Celera SNP ID:            hCV9688496
SNP Position Transcript:  1063
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 308, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:8796):
TATTCCCTGCCGGGATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCAC
R
CACGGCTTTGACGACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGT
Celera SNP ID:            hCV25602556
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,8)   total(A,1|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 616, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8797):
GCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGC
R
CAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACT
Celera SNP ID:            hCV26678910
SNP Position Transcript:  1630
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1166, 497, (A,GCA)   (A,GCG)      



Gene Number:                 181
Celera Gene:                 hCG24602 - 66000116051721
Celera Transcript:           hCT2336578 - 66000116051749
Public Transcript Accession: NM_033467
Celera Protein:              hCP1882526 - 197000069425790
Public Protein Accession:    NP_258428
Gene Symbol:                 MMEL2
Protein Name:                membrane metallo-endopeptidase-like 2;NL2
Celera Genomic Axis:         GA_x5YUV32VTH2(21604..63925)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:470):
GGAAATCCACCCACTTGGCCCAGCTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAA
AGGTTCCTCCGCGGTGCTCTCCCSTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCMGTGGGGATGGTGGAGAGCGCYGGCCGTGCAGGGCAGAAGC
GCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCA
GCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACCWTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAG
GTCTGCACCACCCCTGGCTGCGTGATAGCAGCYGCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCG
GAGGCTGGCTGCGGCGCCACGTGATCCCTGAGACCAACTCAAGATACAGCATCTTTGACGTCCTCCGCGACGAGCTGGAGGTCATCCTCAAAGCGGTGCT
GGAGAATTCGACTGCCAAGGACCGGCCGGCTGTGGAGAAGGCCAGGACGCTGTACCGCTCCTGCATGAACCAGAGTGTGATAGAGAAGCGAGGCTCTCAG
CCCCTGCTGGACATCTTGGAGGTGGTGGGAGGCTGGCCGGTGGCGATGGACAGGTGGAACGAGACCGTAGGACTCGAGTGGGAGCTGGAGCGGCAGCTGG
CGCTGATGAACTCACAGTTCAACAGGCGCGTCCTCATCGACCTCTTCATCTGGAACGACGACCAGAACTCCAGCCGGCACATCATCTACATAGACCAGCC
CACCTTGGGCATGCCCTCCCGAGAGTACTACTTCAACGGCGGCAGCAACCGGAAGGTGCGGGAAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTG
CTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGTKCTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTAC
CCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAAGCCAGTTTGGCCTGAAGGGATTTAACTGGACTCTGTT
CATACAAACTGTGCTATCCTCTGTCAAAATCAAGCTGCTGCCAGATGAGGAAGTGGTGGTCTATGGCATCCCCTACCTGCAGAACCTTGAAAACATCATC
GACACCTACTCAGCCAGGACCATACAGAACTACCTGGTCTGGCGCCTGGTGCTGGACCGCATTGGTAGCCTAAGCCAGAGATTCAAGGACACACGAGTGA
ACTACCGCAAGGCGCTGTTTGGCACAATGGTGGAGGAGGTGCGCTGGCGTGAATGTGTGGGCTACGTCAACAGCAACATGGAGAACGCCGTGGGCTCCCT
CTACGTCAGGGAGGCGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGC
TGGATGGACGAGGARTCCAAGAAGAAGGCRCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGAYGAACAGGC
GCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGCCTCAGGAA
GCTTCGGGAAAAGGTGGACCCAAATCTCTGGATCATCGGGGCGGCGGTGGTCAATGCGTTCTACTCCCCAAACCGAAACCAGATTGTATTCCCTGCCGGG
ATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCACRCACGGCTTTGACG
ACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGTGCATGATCTACCA
GTACGGCAACTACTCCTGGGACCTGGCAGACGAACAGAACGTGAACGGATTCAACACCCTTGGGGAAAACATTGCTGACAACGGAGGGGTGCGGCAAGCC
TATAAGGCCTACCTCAAGTGGATGGCAGAGGGTGGCAAGGACCAGCAGCTGCCCGGCCTGGATCTCACCCATGAGCAGCTCTTCTTCATCAACTATGCCC
AGGTGTGGTGCGGGTCCTACCGGCCCGAGTTCGCCATCCAATCCATCAAGACAGACGTCCACAGTCCCCTGAAGTACAGGGTACTGGGGTCGCTGCAGAA
CCTGGCCGCCTTCGCAGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTG
CGGCCCACGCCCACCYGCTGCTCRGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCT
GCCAGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCACAGAC
ACCMGCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGCTTCA
GACTTGAGCTAAGTAAATGCTTCAAAGAAATCA

Protein Sequence    (SEQ ID NO:1167):
MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAAR
ILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWP
VAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLV
WRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEK
AMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW


SNP Information

Context             (SEQ ID NO:8798):
AGACACGTTCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACC
Y
GCTGCTCGGAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCC
Celera SNP ID:            hCV1974931
SNP Position Transcript:  2516
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,2|T,2)   total(C,34|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1167, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   JBIG-allele(A,545|G,936)   total(G,936|A,545)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1167, None   



Context             (SEQ ID NO:8799):
AGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGC
Y
GGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGGTGGCCTTGGGTGTCCTCTACG
Celera SNP ID:            hCV403761
SNP Position Transcript:  181
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,2)   total(C,2|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 14, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8800):
CGCTGCCCTGGTGGCCTTGGGTGTCCTCTACGCCGACCGCAGAGGGAAGCAGCTGCCACGCCTTGCTAGCCGGCTGTGCTTCTTACAGGAGGAGAGGACC
W
TTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGCTGCCAGGATCCTCCAGAA
Celera SNP ID:            hCV26678896
SNP Position Transcript:  350
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|T,9)      total(A,1|T,9) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1167, 71, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:8801):
GAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGA
Y
GAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACTTCTCAGAGGACCTGTACTTTGAGAACAGTCTGCAGAACCTCAAGGTGGGCGCCCAGCGGAGC
Celera SNP ID:            hCV1974927
SNP Position Transcript:  1692
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,6)   caucasian(T,2)   total(C,20|T,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1167, 518, (T,ACG)   (M,ATG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1167, 518, (T,ACG)   (M,ATG)      518, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:8802):
CTCACCCCAACTCCAACCCACTGGGACCCAGTCTCCAGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCC
S
TCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCCAGTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGC
Celera SNP ID:            hCV27846354
SNP Position Transcript:  124
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(C,1|G,29)   total(C,1|G,59)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1167, None



Context             (SEQ ID NO:8803):
AGGCCTCTGCGCCTGGCCTAGGGTGCAGCCACCTGCCTGACACCCAGGGATGAGCAGTGTCCAGTGCAGTACCTGGACCGGAGCCCCCTCCACAGACACC
M
GCGGGGCTCAGTGCCCCCGTCACAGCTCTGTAGAGACAATCAACTGTGTCCTGCCCACCCTCCAAGGTGCATTGTCTTCCAGTATCTACAGCTTCAGACT
Celera SNP ID:            hCV8861420
SNP Position Transcript:  2704
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,9)   total(A,1|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1167, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,3)      total(T,1|G,3) ;JBIC-allele(T,266|G,1229)   total(G,1229|T,266)no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1167, None   



Context             (SEQ ID NO:8804):
TACAGGAGGAGAGGACCTTTGTAAAACGAAAACCCCGAGGGATCCCAGAGGCCCAAGAGGTGAGCGAGGTCTGCACCACCCCTGGCTGCGTGATAGCAGC
Y
GCCAGGATCCTCCAGAACATGGACCCGACCACGGAACCGTGTGACGACTTCTACCAGTTTGCATGCGGAGGCTGGCTGCGGCGCCACGTGATCCCTGAGA
Celera SNP ID:            hCV403768
SNP Position Transcript:  433
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,8)   caucasian(T,6)   total(C,20|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 98, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,2)   total(C,1|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 98, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:8805):
CGTTCCCTGGAGACAGCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGA
R
TCCAAGAAGAAGGCGCAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGT
Celera SNP ID:            hCV25602535
SNP Position Transcript:  1615
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 492, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:8806):
TCCACTGTGCCCGGGGCACCCCCATGCACCCCAAGGAGCGATGCCGCGTGTGGTAGCCAAGGCCCTGCCGCGCTGTGCGGCCCACGCCCACCCGCTGCTC
R
GAGGCATCTGTGCGAAGGTGCAGCTAGCGGCGACCCAGTGTACGTCCCGCCCCGGCCAACCATGCCAAGCCTGCCTGCCAGGCCTCTGCGCCTGGCCTAG
Celera SNP ID:            hCV25602546
SNP Position Transcript:  2524
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,4)   total(A,1|G,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1167, None



Context             (SEQ ID NO:8807):
AGGGGCCTGACTGTGGGCGGCAGCCACTCCTGAGTGAGCAAAGGTTCCTCCGCGGTGCTCTCCCGTCCAGAGCCCTGCTGATGGGGAAGTCCGAAGGCCC
M
GTGGGGATGGTGGAGAGCGCCGGCCGTGCAGGGCAGAAGCGCCCGGGGTTCCTGGAGGGGGGGCTGCTGCTGCTGCTGCTGCTGGTGACCGCTGCCCTGG
Celera SNP ID:            hCV11612949
SNP Position Transcript:  160
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,2)   total(A,2|C,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 7, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:8808):
AAGCCTACCTGCAGTTCATGGTGTCAGTGGCCACGTTGCTGCGGGAGGATGCAAACCTGCCCAGGGACAGCTGCCTGGTGCAGGAGGACATGGTGCAGGT
K
CTGGAGCTGGAGACACAGCTGGCCAAGGCCACGGTACCCCAGGAGGAGAGACACGACGTCATCGCCTTGTACCACCGGATGGGACTGGAGGAGCTGCAAA
Celera SNP ID:            hCV9688496
SNP Position Transcript:  1063
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,2)      total(G,2|T,1) ;no_pop(G,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 308, (V,GTG)   (V,GTT)      



Context             (SEQ ID NO:8809):
TATTCCCTGCCGGGATCCTCCAGCCCCCCTTCTTCAGCAAGGAGCAGCCACAGGCCTTGAACTTTGGAGGCATTGGGATGGTGATCGGGCACGAGATCAC
R
CACGGCTTTGACGACAATGGCCGGAACTTCGACAAGAATGGCAACATGATGGATTGGTGGAGTAACTTCTCCACCCAGCACTTCCGGGAGCAGTCAGAGT
Celera SNP ID:            hCV25602556
SNP Position Transcript:  1987
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,8)   total(A,1|G,37)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 616, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:8810):
GCAAGAGCATGGTCAGAGAACTCATTGACAAGGTGCGGACAGTGTTTGTGGAGACGCTGGACGAGCTGGGCTGGATGGACGAGGAGTCCAAGAAGAAGGC
R
CAGGAGAAGGCCATGAGCATCCGGGAGCAGATCGGGCACCCTGACTACATCCTGGAGGAGATGAACAGGCGCCTGGACGAGGAGTACTCCAATCTGAACT
Celera SNP ID:            hCV26678910
SNP Position Transcript:  1630
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,2)   total(G,2|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1167, 497, (A,GCA)   (A,GCG)      



Gene Number:                 182
Celera Gene:                 hCG24605 - 206000046222808
Celera Transcript:           hCT15723 - 206000046222809
Public Transcript Accession: NM_152371
Celera Protein:              hCP41726 - 197000069425771
Public Protein Accession:    NP_689584
Gene Symbol:                 MGC26818
Protein Name:                hypothetical protein MGC26818
Celera Genomic Axis:         GA_x5YUV32VTH2(63097..67755)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:471):
AGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTGC
TCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGG
CGCTTCGGGTGCGTGGTGTGCCGCTGGATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCG
AGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCG
GTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGG
GACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGGTGGTGATAAAGTGCTCCTGCATTTCGTCCAGAAGTCCCCAGGCGACTACGTCCCCAAGG
AGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCC
GAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCC
GCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTT
GGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTG
GGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTC
AGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTC
AGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTYAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCT
TAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTC
AGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGC
TCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTC
AGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGG
TGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACT
CTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGC
ATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGG
GCACTGAGCCCCGCKGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGC
CAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCYGAGCA
GCRGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTG
TCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTA
AGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCA
GAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTA
GGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAA
CCTGTCTCTGTTG

Protein Sequence    (SEQ ID NO:1168):
MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQHGVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLY
KELGFKRYNSLSILPAALGKPVRDVAAKAKAVGIQGNLSGDLLQSGGLLVVSKGGDKVLLHFVQKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV


SNP Information

Context             (SEQ ID NO:8811):
GGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGC
R
GGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCT
Celera SNP ID:            hCV1974931
SNP Position Transcript:  2203
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,2)   total(A,2|G,34)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(G,-|A,-)   JBIC-allele(A,545|G,936)   total(G,936|A,545)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None   



Context             (SEQ ID NO:8812):
AGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGC
K
GGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCT
Celera SNP ID:            hCV8861420
SNP Position Transcript:  2015
SNP Source:               Applera
Population(Allele,Count): african american(G,9|T,1)   total(G,9|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,3)      total(G,3|T,1) ;JBIG-allele(T,266|G,1229)   total(T,266|G,1229)no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None   



Context             (SEQ ID NO:8813):
TTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGT
Y
AGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCC
Celera SNP ID:            hCV11612148
SNP Position Transcript:  1241
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None   



Context             (SEQ ID NO:8814):
CTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTC
Y
GAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGA
Celera SNP ID:            hCV25602546
SNP Position Transcript:  2195
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,4)   total(C,33|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1168, None



Gene Number:                 183
Celera Gene:                 hCG24778 - 66000115967167
Celera Transcript:           hCT15898 - 66000115967168
Public Transcript Accession: NM_018438
Celera Protein:              hCP41831 - 197000064927362
Public Protein Accession:    NP_060908
Gene Symbol:                 FBXO6
Protein Name:                F-box only protein 6;FBG2;FBX6
Celera Genomic Axis:         GA_x5YUV32VY08(8405558..8415798)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:472):
CGGCCGCGCGTTCGGGAGCTTCGGCCCTGCGTAGGAGGCGGGTGCAGGTGTGGGTGCTGAGCCGCCCGCCGCCTGGAGGGGGAGACAGCTTCAGGACACG
CAGGCCGCAGCGAGGGCCCGGGCCCTGGGGATCCCAGGCCATGGATGCTCCCCACTCCAAAGCAGCCCTGGACAGCATTAACGAGCTGCCCGAGAACATC
CTGCTGGAGCTGTTCACGCACGTGCCCGCCCGCCAGCTGCTGCTGAACTGCCGCCTGGTCTGCAGCCTCTGGCGGGACCTCATCGACCTCATGACCCTCT
GGAAACGCAAGTGCCTGCRAGAGGGCTTCATCACCAAGGACTGGGACCAGCCCGTGGCCGACTGGAAAATCTTCTAYTTCCTACGGAGCCTGCATAGGAA
CCTCCTGCGCAACCCGTGTGCTGAAGAGGATATGTTTGCATGGCAAATTGATTTCAATGGTGGGGACCGCTGGAAGGTGGAGAGCCTCCCTGGAGCCCAC
GGGACAGATTTTCCTGACCCCAAAGTCAAGAAGTATTTTGTCACATCCTACGAAATGTGCCTCAAGTCCCAGCTGGTGGACCTTGTAGCCGAGGGCTACT
GGGAGGAGCTACTAGACACATTCCGGCCGGACATCGTGGTTAAGGACTGGTTTGCTGCCAGAGCCGACTGTGGCTGCACCTACCAACTCAAAGTGCAGCT
GGCCTCGGCTGACTACTTCGTGTTGGCCTCCTTCGAGCCCMCACCTGTGACCATCCAACAGTGGAACAATGCCACATGGACAGAGGTCTCCTACACCTTC
TCAGACTACCCCCGGGGTGTCCGCTACATCCTCTTCCAGCATGGGGGCAGGGACACCCAGTACTGGGCAGGCTGGTATGGGCCCCGAGTCACCAACAGCA
GCATTGTCGTCAGCCCCAAGATGACCAGGAACCAGGCCTCCTCCGAGGCTCAGCCTGGGCAGAAGCATGGACAGGAGGAGGCTGCCCAATCGCCCTACCG
AGCTGTTGTCCAGATTTTCTGACAGCTGTCCATCCTGTGTCTGGGTCAGCCAGAGGTTCCTCCAGGCAGGAGCTGAGCATGGGGTGGGCAGTGAGGTCCC
TGTACCAGCGACTCCTGCCCCGGTTCAACCCTACCAGCTTGTGGTAACTTACTGTCACATAGSTCTGACGTTTTGTTGTAATAAATGTTTTCAGGCCGGG
CACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCCAACACGGTGAAACC
CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGATGCAGAAGAATGGCGTGAACCCG
GAAGGCRGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGCTCATAAAATAATAATAATAATAAATAAA
TAAAAAATAAATGTTTTCAGTA

Protein Sequence    (SEQ ID NO:1169):
MDAPHSKAALDSINELPENILLELFTHVPARQLLLNCRLVCSLWRDLIDLMTLWKRKCLREGFITKDWDQPVADWKIFYFLRSLHRNLLRNPCAEEDMFA
WQIDFNGGDRWKVESLPGAHGTDFPDPKVKKYFVTSYEMCLKSQLVDLVAEGYWEELLDTFRPDIVVKDWFAARADCGCTYQLKVQLASADYFVLASFEP
PPVTIQQWNNATWTEVSYTFSDYPRGVRYILFQHGGRDTQYWAGWYGPRVTNSSIVVSPKMTRNQASSEAQPGQKHGQEEAAQSPYRAVVQIF


SNP Information

Context             (SEQ ID NO:8815):
CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGATGCAGAAGAATGGCGTGAACCCGGAAGGC
R
GAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGCTCATAAAATAATAATAATAATAAATAAATAAAAAA
Celera SNP ID:            hCV27468971
SNP Position Transcript:  1407
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1169, None   



Context             (SEQ ID NO:8816):
CAGGCAGGAGCTGAGCATGGGGTGGGCAGTGAGGTCCCTGTACCAGCGACTCCTGCCCCGGTTCAACCCTACCAGCTTGTGGTAACTTACTGTCACATAG
S
TCTGACGTTTTGTTGTAATAAATGTTTTCAGGCCGGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTC
Celera SNP ID:            hCV8862314
SNP Position Transcript:  1163
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1169, None   



Context             (SEQ ID NO:8817):
CACGTGCCCGCCCGCCAGCTGCTGCTGAACTGCCGCCTGGTCTGCAGCCTCTGGCGGGACCTCATCGACCTCATGACCCTCTGGAAACGCAAGTGCCTGC
R
AGAGGGCTTCATCACCAAGGACTGGGACCAGCCCGTGGCCGACTGGAAAATCTTCTACTTCCTACGGAGCCTGCATAGGAACCTCCTGCGCAACCCGTGT
Celera SNP ID:            hCV25604102
SNP Position Transcript:  319
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,2|G,38)   total(A,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1169, 60, (Q,CAA)   (R,CGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1169, 60, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:8818):
TAAGGACTGGTTTGCTGCCAGAGCCGACTGTGGCTGCACCTACCAACTCAAAGTGCAGCTGGCCTCGGCTGACTACTTCGTGTTGGCCTCCTTCGAGCCC
M
CACCTGTGACCATCCAACAGTGGAACAATGCCACATGGACAGAGGTCTCCTACACCTTCTCAGACTACCCCCGGGGTGTCCGCTACATCCTCTTCCAGCA
Celera SNP ID:            hCV16187720
SNP Position Transcript:  741
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,10|C,1489)   total(A,10|C,1489) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1169, 201, (T,ACA)   (P,CCA)      



Context             (SEQ ID NO:8819):
ACCTCATCGACCTCATGACCCTCTGGAAACGCAAGTGCCTGCGAGAGGGCTTCATCACCAAGGACTGGGACCAGCCCGTGGCCGACTGGAAAATCTTCTA
Y
TTCCTACGGAGCCTGCATAGGAACCTCCTGCGCAACCCGTGTGCTGAAGAGGATATGTTTGCATGGCAAATTGATTTCAATGGTGGGGACCGCTGGAAGG
Celera SNP ID:            hCV25604095
SNP Position Transcript:  377
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,38|T,2)   total(C,68|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1169, 79, (Y,TAC)   (Y,TAT)   



Gene Number:                 184
Celera Gene:                 hCG24868 - 104000117691455
Celera Transcript:           hCT15989 - 104000117691456
Public Transcript Accession: NM_003921
Celera Protein:              hCP41880 - 197000064921108
Public Protein Accession:    NP_003912
Gene Symbol:                 BCL10
Protein Name:                B-cell CLL/lymphoma 10;CARMEN;CIPER;CLAP;c-E10;mE10
Celera Genomic Axis:         GA_x5YUV32VY6P(18351137..18363081)
Chromosome:                  Chr1
OMIM number:                 603517
OMIM Information:            B-CELL CLL/LYMPHOMA 10;BCL10


Transcript Sequence (SEQ ID NO:473):
TTCCATGAGGAAAGAGATTTTTATTGGTTTTGTTCACAGCTGTTTTCCTAGCACCTAGAACAGTGTCTGGCACATAGTGGACATTCAAAACACATTTGTT
AAATGAARGGATTCATCCTAAAGTTAAGGATGGTTMAGTAAATCGGATGGAAGATGATGAAAAATTAAGCAATTAGAAAAAAACTGTYCTTGTGTAATGT
GTCAACATGGAAACAGGACATAATGTAAACATCAGAATCCCTTGCTGTGATTCTGGTTTTTGTGGCTCTGGTTACATTGTTTTTTTGTGTGTTTTTTTTT
TTTTTTTGCTTTCCCGTTTCTTAAACATTGGCGTTCCCAAGTTTCTCCTTGGTCCTCCTGTCATTTTTATCTACTCTCGTAGCTTCAAATACCATCTAGT
TTATAGTTTATTTAGCATGTTGTCCAAGCCACCGTCTTGGGCCCAGGGCTCTACCTGTAGCTTTTCATCCACACTTCTCAGGTTGCTTCTTACACAGCGC
CATAGTAGTTAAAATACGGTCTGGGGATAGTCGTCTCTTCATCAGTCTCCCCCGACGACCTGCGCAGGCGTGGCTTGAGGAAACGCCCGCTGTGGGCGGA
GCCACCCGAAAGGCTCCGGTCGGGGGCGGGAACAGGATCGGCCYGCGGGCTGGCGTCGATAGGCTGCCGCARAGACAGGGCGGGCTCTGCTAAGSGACGC
GCCTCGCCGTGGGGCGGTGCCTGCGCCTGAGCCTCTACGAGAGGGAAGGAACGCTGCTCCGAGCTCCGSGTCGCGTCGCGTAGATTCGCGTCGCCGTCGA
CCTCAGAGGCGGGGCCGGAAGCGCTACGGTTTGACCCCCGAGTCCCTCTGTTCCCGAAGGGGCGGCCGTCTTTCTSCCGACCCGCTCCGCCTCCTCTCCT
TCTTCCCCATTACCCGGAGGCCGAAGCCCCCAGCCAGGGCGGGGCGGCGCAGCCCGAGCTCCCGGACCCGGAAGAAGCGCCATCTCCCGCCTCCACCATG
GAGCCCACCGCACCGTCCCTSACCGAGGAGGACCTCACTGAAGTGAAGAAGGACGCCTTAGAAAATTTACGTGTATACCTGTGTGAGAAAATCATAGCTG
AGAGACATTTTGATCATCTACGTGCAAAAAAAATACTCAGTAGAGAAGACACTGAAGAAATTTCTTGTCGAACATCAAGTAGAAAAAGGGCTGGAAAATT
GTTAGACTACTTACAGGAAAACCCAAAAGGTCTGGACACCCTTGTTGAATCTATTCGGCGAGAAAAAACACAGAACTTCCTGATACAGAAGATTACAGAT
GAAGTGCTGAAACTTAGAAATATAAAACTAGAACATCTGAAAGGACTAAAATGTAGCAGTTGTGAACCTTTTCCAGATGGAGCCACGAACAACCTCTCCA
GATCAAATTCAGATGAGAGTAATTTCTCTGAAAAACTGAGGGCATCCACTGTCATGTACCATCCAGAAGGAGAATCCAGCACGACGCCCTTTTTTTCTAC
TAATTCTTCTCTGAATTTGCCTGTTCTAGAAGWAGGCAGAACTGAAAATACCATCTTCTCTTCAACTACACTTCCCAGACCTGGGGACCCAGGGGCTCCT
CCTTTGCCACCAGATCTACAGTTAGAAGAAGAAGRAACTTGTGCAAACTCTAGTGAGATGTTTCTTCCCTTAAGATCACGTACTGTTTCACGACAATGAC
ACTTYATTGCCTTTTAATTTTTAATGATGACAAAAAATGTTTTAAAGAATATGACTTTTTATAAAATGGCTGTAATCATTTGTTTACATTTGATGCATGT
CTTTTAAAATGCAATGTAAGCATACTTTGTAAATAGGATTTTTAGAATTAAAAAAGCATACTTCTAGGATAGCTAACTGTAAATCATGTTGATCATGTAC
TTTTTAGTAATTTCTTTTTTTCCTTTTTAAGGTCTTTCAGTACTTTTTTAAATATTTTCTATTTTAAGACTGATTTTAATAGGGAATATATCTCTATTTG
AGAATAGACCCTTACTAGGAAGAACGTTTTTTCCTCAGTGCATTTGTGCTAGAAATTTTCAAGAGTCKAATAGTCTTTGCCAGTCATTCAGCAGCAAATT
TTCAGCATTAAGCTGTTCCTGTTCAGTAATAAAACCGGTCACTGATGGGAAAACTGCCAATATAGAAAAATAAAAATCTCTTTTCCACTCCATTGTCGTA
TAGGCATGTAAACAGCCTCTTTTTGATACTGGAGGAACACTTGATGGAGTGTGAGCCACCTAAGATCTCGGTTTGCCAAAATTCATTTCTAATTAACCTT
ACTAATTATACTACTTTGTTAGGATTTTCACATTCTTGGCTTAATCATTTTCATTCCTAAAGAAAAATATCTTGGCCTAAACCTCAGTTATTACATGTAA
TTTGATGAGGTATTTTTTCCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGCGCATTCTAGG
CTCACTGCAACTTCTGCCTCCCATGCTTACGTGATCCTCTCACCTCAGCCTCTCAAGTAATATAGCTGAGACTACAAGTGTGTGCCACCATGCCTCACTA
ATTTTTGTATTATTTTTGTAGAGACGGTGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGACTCAAGCAACCTACCCAGCGTGGCCTCCCAAAG
TGCTGGGATTACAGACACGAGCCACCTCACCTAGCCTGATGAGATTTTTAAAAAATATTTTCTCTGTACTTTTCATTCTCTTTTAATGAGGACCAATGTA
CAGTTGAAATAACTGGAACAAATTATTTTTGGTGTGTGTGACAATTCTGTTTTTAATGCTATTTGAACAAGTGGGYCATTAGCCAGATTTGTCTTTTTGT
TGTAAAACAAAATTTGACTAATTTTACRTGTTTATAAATCTTAYGCTCTCACTGTTTGTTTTTATTTAAATTACAATTTTATCTGTTTCCTGACATTGTC
TCCTATATATTTCTATTATTAATTGCAAAAACATAGAAATGGAAATTTTGCTATCAACAATAAAATTTTTTTAAAGT

Protein Sequence    (SEQ ID NO:1170):
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKIT
DEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGA
PPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ


SNP Information

Context             (SEQ ID NO:8820):
GGCGGAGCCACCCGAAAGGCTCCGGTCGGGGGCGGGAACAGGATCGGCCCGCGGGCTGGCGTCGATAGGCTGCCGCAGAGACAGGGCGGGCTCTGCTAAG
S
GACGCGCCTCGCCGTGGGGCGGTGCCTGCGCCTGAGCCTCTACGAGAGGGAAGGAACGCTGCTCCGAGCTCCGCGTCGCGTCGCGTAGATTCGCGTCGCC
Celera SNP ID:            hCV16285701
SNP Position Transcript:  695
SNP Source:               Applera
Population(Allele,Count): african american(C,5|G,33)   caucasian(C,7|G,29)   total(C,12|G,62)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8821):
TTCTCTTTTAATGAGGACCAATGTACAGTTGAAATAACTGGAACAAATTATTTTTGGTGTGTGTGACAATTCTGTTTTTAATGCTATTTGAACAAGTGGG
Y
CATTAGCCAGATTTGTCTTTTTGTTGTAAAACAAAATTTGACTAATTTTACATGTTTATAAATCTTATGCTCTCACTGTTTGTTTTTATTTAAATTACAA
Celera SNP ID:            hCV8863646
SNP Position Transcript:  2876
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8822):
CCGAAGCCCCCAGCCAGGGCGGGGCGGCGCAGCCCGAGCTCCCGGACCCGGAAGAAGCGCCATCTCCCGCCTCCACCATGGAGCCCACCGCACCGTCCCT
S
ACCGAGGAGGACCTCACTGAAGTGAAGAAGGACGCCTTAGAAAATTTACGTGTATACCTGTGTGAGAAAATCATAGCTGAGAGACATTTTGATCATCTAC
Celera SNP ID:            hCV22274531
SNP Position Transcript:  1021
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,9)   caucasian(C,14|G,14)   total(C,39|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1170, 8, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:8823):
GCAGAGACAGGGCGGGCTCTGCTAAGGGACGCGCCTCGCCGTGGGGCGGTGCCTGCGCCTGAGCCTCTACGAGAGGGAAGGAACGCTGCTCCGAGCTCCG
S
GTCGCGTCGCGTAGATTCGCGTCGCCGTCGACCTCAGAGGCGGGGCCGGAAGCGCTACGGTTTGACCCCCGAGTCCCTCTGTTCCCGAAGGGGCGGCCGT
Celera SNP ID:            hCV25604698
SNP Position Transcript:  769
SNP Source:               Applera
Population(Allele,Count): african american(C,33|G,3)   caucasian(C,33|G,3)   total(C,66|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None

SNP Source:               Applera
Population(Allele,Count): african american(C,27|G,3)   caucasian(C,24|G,2)   total(C,51|G,5)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None



Context             (SEQ ID NO:8824):
AAACTGAGGGCATCCACTGTCATGTACCATCCAGAAGGAGAATCCAGCACGACGCCCTTTTTTTCTACTAATTCTTCTCTGAATTTGCCTGTTCTAGAAG
W
AGGCAGAACTGAAAATACCATCTTCTCTTCAACTACACTTCCCAGACCTGGGGACCCAGGGGCTCCTCCTTTGCCACCAGATCTACAGTTAGAAGAAGAA
Celera SNP ID:            hCV25604699
SNP Position Transcript:  1533
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,1|T,39)   total(A,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1170, 179, (E,GAA)   (V,GTA)   



Context             (SEQ ID NO:8825):
AGTCTCCCCCGACGACCTGCGCAGGCGTGGCTTGAGGAAACGCCCGCTGTGGGCGGAGCCACCCGAAAGGCTCCGGTCGGGGGCGGGAACAGGATCGGCC
Y
GCGGGCTGGCGTCGATAGGCTGCCGCAGAGACAGGGCGGGCTCTGCTAAGGGACGCGCCTCGCCGTGGGGCGGTGCCTGCGCCTGAGCCTCTACGAGAGG
Celera SNP ID:            hCV27856450
SNP Position Transcript:  644
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None



Context             (SEQ ID NO:8826):
GGCTTGAGGAAACGCCCGCTGTGGGCGGAGCCACCCGAAAGGCTCCGGTCGGGGGCGGGAACAGGATCGGCCCGCGGGCTGGCGTCGATAGGCTGCCGCA
R
AGACAGGGCGGGCTCTGCTAAGGGACGCGCCTCGCCGTGGGGCGGTGCCTGCGCCTGAGCCTCTACGAGAGGGAAGGAACGCTGCTCCGAGCTCCGCGTC
Celera SNP ID:            hCV27856451
SNP Position Transcript:  672
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,34)   total(A,1|G,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None



Context             (SEQ ID NO:8827):
GGCAGAACTGAAAATACCATCTTCTCTTCAACTACACTTCCCAGACCTGGGGACCCAGGGGCTCCTCCTTTGCCACCAGATCTACAGTTAGAAGAAGAAG
R
AACTTGTGCAAACTCTAGTGAGATGTTTCTTCCCTTAAGATCACGTACTGTTTCACGACAATGACACTTTATTGCCTTTTAATTTTTAATGATGACAAAA
Celera SNP ID:            hCV25604700
SNP Position Transcript:  1635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,2|G,38)   total(A,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1170, 213, (E,GAA)   (G,GGA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,2|G,36)   total(A,3|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1170, 213, (E,GAA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,209|G,1262)   total(G,1262|A,209) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1170, 213, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:8828):
TGCCACCAGATCTACAGTTAGAAGAAGAAGGAACTTGTGCAAACTCTAGTGAGATGTTTCTTCCCTTAAGATCACGTACTGTTTCACGACAATGACACTT
Y
ATTGCCTTTTAATTTTTAATGATGACAAAAAATGTTTTAAAGAATATGACTTTTTATAAAATGGCTGTAATCATTTGTTTACATTTGATGCATGTCTTTT
Celera SNP ID:            hCV25604710
SNP Position Transcript:  1705
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None



Context             (SEQ ID NO:8829):
AAACACATTTGTTAAATGAAAGGATTCATCCTAAAGTTAAGGATGGTTAAGTAAATCGGATGGAAGATGATGAAAAATTAAGCAATTAGAAAAAAACTGT
Y
CTTGTGTAATGTGTCAACATGGAAACAGGACATAATGTAAACATCAGAATCCCTTGCTGTGATTCTGGTTTTTGTGGCTCTGGTTACATTGTTTTTTTGT
Celera SNP ID:            hCV2720580
SNP Position Transcript:  188
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,13)   total(C,13|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8830):
TCGCGTAGATTCGCGTCGCCGTCGACCTCAGAGGCGGGGCCGGAAGCGCTACGGTTTGACCCCCGAGTCCCTCTGTTCCCGAAGGGGCGGCCGTCTTTCT
S
CCGACCCGCTCCGCCTCCTCTCCTTCTTCCCCATTACCCGGAGGCCGAAGCCCCCAGCCAGGGCGGGGCGGCGCAGCCCGAGCTCCCGGACCCGGAAGAA
Celera SNP ID:            hCV2720581
SNP Position Transcript:  876
SNP Source:               Applera
Population(Allele,Count): african american(C,27|G,3)   caucasian(C,22|G,2)   total(C,49|G,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|C,6)      total(G,2|C,6) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8831):
TTTGGTGTGTGTGACAATTCTGTTTTTAATGCTATTTGAACAAGTGGGCCATTAGCCAGATTTGTCTTTTTGTTGTAAAACAAAATTTGACTAATTTTAC
R
TGTTTATAAATCTTATGCTCTCACTGTTTGTTTTTATTTAAATTACAATTTTATCTGTTTCCTGACATTGTCTCCTATATATTTCTATTATTAATTGCAA
Celera SNP ID:            hCV2720590
SNP Position Transcript:  2928
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,4)   total(G,1|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8832):
ATTCTGTTTTTAATGCTATTTGAACAAGTGGGCCATTAGCCAGATTTGTCTTTTTGTTGTAAAACAAAATTTGACTAATTTTACATGTTTATAAATCTTA
Y
GCTCTCACTGTTTGTTTTTATTTAAATTACAATTTTATCTGTTTCCTGACATTGTCTCCTATATATTTCTATTATTAATTGCAAAAACATAGAAATGGAA
Celera SNP ID:            hCV2720591
SNP Position Transcript:  2944
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8833):
ACAGCTGTTTTCCTAGCACCTAGAACAGTGTCTGGCACATAGTGGACATTCAAAACACATTTGTTAAATGAAAGGATTCATCCTAAAGTTAAGGATGGTT
M
AGTAAATCGGATGGAAGATGATGAAAAATTAAGCAATTAGAAAAAAACTGTCCTTGTGTAATGTGTCAACATGGAAACAGGACATAATGTAAACATCAGA
Celera SNP ID:            hCV16285694
SNP Position Transcript:  136
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8834):
TGTAATGTGTCAACATGGAAACAGGACATAATGTAAACATCAGAATCCCTTGCTGTGATTCTGGTTTTTGTGGCTCTGGTTACATTGTTTTTTTGTGTGT
T
TTTTTTTTTTTTTTGCTTTCCCGTTTCTTAAACATTGGCGTTCCCAAGTTTCTCCTTGGTCCTCCTGTCATTTTTATCTACTCTCGTAGCTTCAAATACC
Celera SNP ID:            hCV26896715
SNP Position Transcript:  293
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|-,9)   total(-,9|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8835):
AGGAAAGAGATTTTTATTGGTTTTGTTCACAGCTGTTTTCCTAGCACCTAGAACAGTGTCTGGCACATAGTGGACATTCAAAACACATTTGTTAAATGAA
R
GGATTCATCCTAAAGTTAAGGATGGTTAAGTAAATCGGATGGAAGATGATGAAAAATTAAGCAATTAGAAAAAAACTGTCCTTGTGTAATGTGTCAACAT
Celera SNP ID:            hCV8863643
SNP Position Transcript:  108
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1170, None   



Context             (SEQ ID NO:8836):
GACTGATTTTAATAGGGAATATATCTCTATTTGAGAATAGACCCTTACTAGGAAGAACGTTTTTTCCTCAGTGCATTTGTGCTAGAAATTTTCAAGAGTC
K
AATAGTCTTTGCCAGTCATTCAGCAGCAAATTTTCAGCATTAAGCTGTTCCTGTTCAGTAATAAAACCGGTCACTGATGGGAAAACTGCCAATATAGAAA
Celera SNP ID:            hCV8863645
SNP Position Transcript:  2068
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,15)   caucasian(G,9|T,9)   total(G,16|T,24)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1170, None   



Gene Number:                 185
Celera Gene:                 hCG25085 - 83000099466909
Celera Transcript:           hCT1953619 - 83000099466928
Public Transcript Accession: NM_014021
Celera Protein:              hCP1762700 - 197000064921133
Public Protein Accession:    NP_054740
Gene Symbol:                 SSX2IP
Protein Name:                synovial sarcoma, X breakpoint 2 interacting protein;ADIP;KIAA0923
Celera Genomic Axis:         GA_x5YUV32VY6P(18939057..18985388)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:474):
AGGCGTCAGAAGGGGGCGGGGAGCAGAAAACGGCCGGGTGAATCACTGGGCGTAACAGGTGCCGCAGCCGCAGCTGCGCCCGCAGCGCGCGCGGACCGCA
GGGATAAGGTCTTCTTTTTCTCCGGGTTTTTTTGGAGGAGATGCCTACATAGAAGAGTGACAGCAGCTAGACTAAATGTTTAACTGCTGAACTAGTTCCT
CAGGTATCCTGGCTCTAGAGATTGCTATGGGAGATTGGATGACTGTTACAGATCCAGGTCTGTCTTCAGAAAGCAAAACTATCTCTCAATATACCTCAGA
AACAAAGATGTCTCCATCAAGTTTATACTCACAGCAAGTGCTATGTTCTTCAATACCTTTATCGAAAAAYGTGCACAGTTTTTTCAGTGCCTTCTGCACA
GAAGATAATATTGAACAGAGTATCTCATATCTTGATCAGGAATTGACTACTTTTGGTTTTCCTTCATTATATGAAGAATCCAAAGGTAAAGAGACAAAGA
GAGAGTTAAATATAGTAGCTGTACTAAATTGTATGAATGAGCTGCTTGTGCTTCAGCGGAAGAACCTTCTAGCTCAGGAAAATGTGGAGACACAGAATTT
GAAGCTGGGAAGTGATATGGACCATCTACAGAGCTGCTACTCAAAACTTAAGGAACAACTGGAAACCTCCAGGAGGGAAATGATTGGGCTTCAGGAAAGA
GACAGACAGTTACAATGTAAGAACAGGAATTTGCATCAGCTACTAAAGAATGAGAAAGATGAGGTGCAAAAATTACAAAATATCATTGCAAGTCGARCTA
CTCAGTATAATCATGATATGAAGAGAAAAGAGCGTGAATATAATAAACTGAAGGAACGTCTACATCAACTTGTTATGAACAAGAAAGATAAGAAAATAGC
TATGGACATTTTGAATTATGTCGGGAGAGCTGATGGAAAAAGAGGCTCCTGGAGGACTGGTAAAACTGAAGCCAGGAATGAAGATGAAATGTATAAAATT
CTCTTGAATGATTATGAATATCGTCAGAAACAAATCCTAATGGAAAATGCAGAACTTAAGAARGTTCTTCAACAAATGAAAAAGGAAATGATTTCTCTTC
TTTCTCCCCAAAAGAAGAAACCTAGAGAAAGAGTAGATGATAGTACAGGAACTGTTATTTCCGATGTTGAAGAAGATGCCGGGGAACTAAGCAGAGAGAG
TATGTGGGACCTTTCCTGTGAAACTGTGAGAGAGCAGCTTACAAACAGCATCAGAAAACAGTGGAGAATTTTGAAAAGTCATGTAGAAAAGCTTGATAAC
CAAGTTTCAAAGGTACACCTGGAAGGTTTTAATGATGAAGATGTAATCTCACGACAAGACCATGAACAAGAAACTGAAAAACTCGAGTTAGAAATTCAGC
AGTGTAAAGAAATGATTAAAACTCAGCAACAGCTTTTACAGCAGCAGCTCGCTACTGCATATGATGATGATACCACTTCACTATTACGAGACTGTTATTT
GTTGGAAGAAAAGGAACGTCTCAAAGAAGAATGGTCCCTTTTTAAAGAGCAGAAAAAGAATTTTGAGAGGGAGAGACGAAGCTTTACAGAAGCCGCTATT
CGCCTGGGATTGGAGAGAAAGGCATTTGAAGAAGAAAGAGCCAGTTGGTTAAAGCAGCAGTTTCTAAATATGACTACCTTTGACCACCAGAACTCAGAAA
ATGTGAAACTTTTCAGTGCCTTCTCAGGAAGTTCTGATTGGGACAATCTTATAGTGCACTCGAGGCAGCCGCAAAAGAAGCCTCACAGTGTGTCTAATGG
GTCTCCAGTTTGCATGTCTAAACTTACTAAATCTCTTCCTGCTTCACCTTCCACTTCAGACTTTTGCCAGACACGTTCCTGCATATCTGAACATAGTTCA
ATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAAYGTACAAATCAAAAATGGAGTGTGGCRTCAAGACCTGGATCAC
AGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGATGACTTACCTTAGACATGTGGACTGGAATTTTTTTCATTAAT
GTGTTCATCAAGTTTCACATCTAAGTTGAAACAGGGTGTGTCATAAAGTCAGTTATCTCTAATAACTTAAGATGGTCTGAGTTGTTTGTTTGGACTTCCC
TGTCTTCCCCCAAAGAGTTGAAATCTTAAATCTATTTAAAAGGATATAAAAGCTTTGGATATGTATTTTTAGTAACAGAAGCATCTGGTTCTGTGAATAA
AGGAATGTATAGATGTTTGGATGGAAACAAAAGCACTAGACTGAGTTTCCTCTTATAGGTATTAAAAATAGCACTTTTAGGAAACTGATTATTGTAAATG
TTTAATTTTGTCTCAAATATAGTTGGCATTGGAAGTTTAGCCTTTACTTGAATGTATACTGTAGATTTTTAACAAAGCGAGTTCTATATTTATTATGTTT
AGTGTGGTTTGAAATTACCTCTTTCATATGTTTTAAATAAAGTGAAATTTATGTATGTTTTGTACATAGATACACATGATTATGTTAAGAGGCTTTAAGA
TTTAAAAGTTTCACACAACCATAAGTATAGTATTTCATGCCAGTAAAATTTTTTTAGTGGTATTCTGTTTACAGATRTATTAGGACCATTGATGCATTAC
ATTTAAGAATTCTCTTTAATACATCTGGGCAATAAATATTGAAAGGTATTCCATGAAGCTGAGTTCTTTAGATAATCAACACTACTAACATTACATTTTT
GAGATTTTTATGACATTAGATTTTTATTTTGTATATGTAGAATATTATAATTTTTAAAAGGACTATTGATGATAGAAGAATAGGGGCAAGACGACAAAAG
TACCTTTGAATAAAACAATTTAAGAARTTGGTTTAAGATATTGGATGATAGAAGATATTTAAGATATCTAGATGGTGATATTTTCCTTACAAGATGGGAG
GTATTTACCACTGAAGAAATATGATAATATAAAACCATCAAATTTTATAATTGAGATGATACTCTGGAAAAACATGTCATTTCATTTTCAGAAAACTCTT
AAGCTCTCTTCAGTCTCTGTAATGTTTCTGATTGCATGTTTCTTCATGAAAAGTATGTTGTTGTTTTGATAGTAATAATAATAAATGTAGGCTCAGCTCT
TTCCCAGGATTTTCATCAAAAAGCTTTAAGTGCCTAACCCTGCTTGTCTCTGTACATAGAAGCCTGCACAGATCCAACCCTTGCTAGGTATCATAGTTTA
GGCCCATTTACCTTCCCCTGTACTGGCAGTTCAGCCGCTTACATGCACTCACCCTGTTTGTGGCTATTTTAAATTCATATTATTAAAAAACAAAAAAAAC
CCACCTATTTGTGTTGTCCATTCACTATACGTAACTATGTAACTCTTTGGAGTTGCATAGCAGCAGCCATTTTTTCAGGGCTGATAGGATATCATTAAGA
GTGTCTTATGAGACATTAGTGGATATACTCATAGTAACCATATTTATAGTTTTAAAGAGCTAGCTCTTGAGCATTAGTCACTACCTTCAGCTTGATGCAT
GGTCACTTCTTTACTATTTAAAATACTACACATTGTACAAAATATCGAAGACACTACCATATGCTAAAGGAAGAAATCTAGCTGGGATATAGGATTTTTG
TTGTTTTTGTTTTTGTTTGTTTTGCTATTTAGCAATAACATGGTCAAAAAGGCAATCAGAAATTTTAAATACAGTTAATGGATACATTTGGCAACAATTT
TCCCCCGAGGGTTTTCCATGGTGTACTTTGCAAGAAATAAGCACTCTAATTTTTAAAGTAAATCTCTTATTTTAGCAAATATTATATTTCATGACAATGG
AGTTCTAGAAAGCAGCATCTGTTTTTTGTTGCGTGTTTCCATTTTAAAGTGAGTTGAGTTCTCAAATTGGAAAGAAAGATTCCTTGAGACKTACTTTTAA
AATCTAAAGTGTGAAAGAAACAGCAGAGTAAAAGCCAGACTCATTGCACCTTCAATGTCTGCATAGATCCAGAAGTTGTACATTTTACCTAACAACATCA
CTTTTGTTGAACATTCCAACTCCAGAATGATCCCCAATCACCCTAATCTCAGAATGCTGGAATGATGTCTGTTGGAAAACCCAGGACTCCACACACAAAA
CTCCTGGGATTTTGTTTCCCATCTCTTTCTAGGTGTTTGCAATGTACAAATAATACAGCTGTGCTAATCTCACATTTAGCCATGATAGATGATGGTTCTA
GAGTGTACTTCCATTTGTAAGTCCTCCTGATAAGTGCTTTCTTGTTTATCACTATGTAAATCTGAAATATTTTGTACTTCATTTGTTTTTATCCATTCTG
AATTTTCAAAGCATAAAAATGTCAAAGAAAAATTGAGATAAACATTTTGTTCACCATTAAATGTTTGCATCTGCAGTCTATGATGAGAAACAATGAAATT
ATGACTAAAATTTAACAAATAGTATTTTCTTATAGAAGCAATGTATTAAATGATTAGATACACAGGACAGTTCACAGCAAATTGTTTACTTACATGGCAT
AATTGAAATACTGTTATTTGTAAAGAGTTCTATACTGCCTACCTTAGCTAACCAGAATTGTTCATAGACTTGTGATAATATGGTGTTATGGGAAAACACA
TTTTGTGCGCATGATGAAGAGAGCACCGTGAATCTAGTCTTGACTGCCCCTGGTGGAACATTTGAAAGCCCTTGGGACTCCAGGAGAGAKGTTTTTGCAG
CATGTATGCTAAATTTGTGAGTTAGCAAGACCCTGCTGTGATTACTATGTTGTACAGATCTTCAAAGTATATTGCCTAATATGAGTCATGTTATTTCTAG
ATTGAATTTAAAGTAAGTATGGATTATGGAAGTCTAGTAAATATACTTTTCCCTAT

Protein Sequence    (SEQ ID NO:1171):
MGDWMTVTDPGLSSESKTISQYTSETKMSPSSLYSQQVLCSSIPLSKNVHSFFSAFCTEDNIEQSISYLDQELTTFGFPSLYEESKGKETKRELNIVAVL
NCMNELLVLQRKNLLAQENVETQNLKLGSDMDHLQSCYSKLKEQLETSRREMIGLQERDRQLQCKNRNLHQLLKNEKDEVQKLQNIIASRATQYNHDMKR
KEREYNKLKERLHQLVMNKKDKKIAMDILNYVGRADGKRGSWRTGKTEARNEDEMYKILLNDYEYRQKQILMENAELKKVLQQMKKEMISLLSPQKKKPR
ERVDDSTGTVISDVEEDAGELSRESMWDLSCETVREQLTNSIRKQWRILKSHVEKLDNQVSKVHLEGFNDEDVISRQDHEQETEKLELEIQQCKEMIKTQ
QQLLQQQLATAYDDDTTSLLRDCYLLEEKERLKEEWSLFKEQKKNFERERRSFTEAAIRLGLERKAFEEERASWLKQQFLNMTTFDHQNSENVKLFSAFS
GSSDWDNLIVHSRQPQKKPHSVSNGSPVCMSKLTKSLPASPSTSDFCQTRSCISEHSSINVLNITAEEIKPNQVGGECTNQKWSVASRPGSQEGCYSGCS
LSYTNSHVEKDDLP


SNP Information

Context             (SEQ ID NO:8837):
AAACTGAAGCCAGGAATGAAGATGAAATGTATAAAATTCTCTTGAATGATTATGAATATCGTCAGAAACAAATCCTAATGGAAAATGCAGAACTTAAGAA
R
GTTCTTCAACAAATGAAAAAGGAAATGATTTCTCTTCTTTCTCCCCAAAAGAAGAAACCTAGAGAAAGAGTAGATGATAGTACAGGAACTGTTATTTCCG
Celera SNP ID:            hCV16183650
SNP Position Transcript:  1063
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1171, 279, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:8838):
AAGAGACAGACAGTTACAATGTAAGAACAGGAATTTGCATCAGCTACTAAAGAATGAGAAAGATGAGGTGCAAAAATTACAAAATATCATTGCAAGTCGA
R
CTACTCAGTATAATCATGATATGAAGAGAAAAGAGCGTGAATATAATAAACTGAAGGAACGTCTACATCAACTTGTTATGAACAAGAAAGATAAGAAAAT
Celera SNP ID:            hCV27498065
SNP Position Transcript:  797
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1171, 191, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:8839):
ATGACAATGGAGTTCTAGAAAGCAGCATCTGTTTTTTGTTGCGTGTTTCCATTTTAAAGTGAGTTGAGTTCTCAAATTGGAAAGAAAGATTCCTTGAGAC
K
TACTTTTAAAATCTAAAGTGTGAAAGAAACAGCAGAGTAAAAGCCAGACTCATTGCACCTTCAATGTCTGCATAGATCCAGAAGTTGTACATTTTACCTA
Celera SNP ID:            hCV26334529
SNP Position Transcript:  3991
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1171, None   



Context             (SEQ ID NO:8840):
GGGAAAACACATTTTGTGCGCATGATGAAGAGAGCACCGTGAATCTAGTCTTGACTGCCCCTGGTGGAACATTTGAAAGCCCTTGGGACTCCAGGAGAGA
K
GTTTTTGCAGCATGTATGCTAAATTTGTGAGTTAGCAAGACCCTGCTGTGATTACTATGTTGTACAGATCTTCAAAGTATATTGCCTAATATGAGTCATG
Celera SNP ID:            hCV8863783
SNP Position Transcript:  4790
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(G,-|T,-)   SG_12_T(G,3|T,21)   SG_12_G(G,3|T,21)   SG_12_TT(G,5|T,18)   SG_95_G(G,9|T,180)   total(T,240|G,20)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1171, None   



Context             (SEQ ID NO:8841):
AAAGCAAAACTATCTCTCAATATACCTCAGAAACAAAGATGTCTCCATCAAGTTTATACTCACAGCAAGTGCTATGTTCTTCAATACCTTTATCGAAAAA
Y
GTGCACAGTTTTTTCAGTGCCTTCTGCACAGAAGATAATATTGAACAGAGTATCTCATATCTTGATCAGGAATTGACTACTTTTGGTTTTCCTTCATTAT
Celera SNP ID:            hCV27513299
SNP Position Transcript:  370
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1171, 48, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:8842):
TATCTGAACATAGTTCAATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAATGTACAAATCAAAAATGGAGTGTGGC
R
TCAAGACCTGGATCACAGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGATGACTTACCTTAGACATGTGGACTGG
Celera SNP ID:            hCV16190510
SNP Position Transcript:  1984
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,3)   caucasian(A,6|G,32)   total(A,11|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1171, 586, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1171, 586, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8843):
AGACTTTTGCCAGACACGTTCCTGCATATCTGAACATAGTTCAATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAA
Y
GTACAAATCAAAAATGGAGTGTGGCATCAAGACCTGGATCACAGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGA
Celera SNP ID:            hCV8863782
SNP Position Transcript:  1958
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,24|T,12)   total(C,24|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1171, 578, (R,CGT)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1171, 578, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:8844):
TGATTATGTTAAGAGGCTTTAAGATTTAAAAGTTTCACACAACCATAAGTATAGTATTTCATGCCAGTAAAATTTTTTTAGTGGTATTCTGTTTACAGAT
R
TATTAGGACCATTGATGCATTACATTTAAGAATTCTCTTTAATACATCTGGGCAATAAATATTGAAAGGTATTCCATGAAGCTGAGTTCTTTAGATAATC
Celera SNP ID:            hCV2855701
SNP Position Transcript:  2677
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1171, None   



Context             (SEQ ID NO:8845):
TTTTGTATATGTAGAATATTATAATTTTTAAAAGGACTATTGATGATAGAAGAATAGGGGCAAGACGACAAAAGTACCTTTGAATAAAACAATTTAAGAA
R
TTGGTTTAAGATATTGGATGATAGAAGATATTTAAGATATCTAGATGGTGATATTTTCCTTACAAGATGGGAGGTATTTACCACTGAAGAAATATGATAA
Celera SNP ID:            hCV16190511
SNP Position Transcript:  2927
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1171, None   



Gene Number:                 185
Celera Gene:                 hCG25085 - 83000099466909
Celera Transcript:           hCT16207 - 83000099466910
Public Transcript Accession: NM_014021
Celera Protein:              hCP41979 - 197000064921132
Public Protein Accession:    NP_054740
Gene Symbol:                 SSX2IP
Protein Name:                synovial sarcoma, X breakpoint 2 interacting protein;ADIP;KIAA0923
Celera Genomic Axis:         GA_x5YUV32VY6P(18939322..18986157)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:475):
CCTCGGAAACCTGCGGAGGCCGGGAGGCGGCTGCAAGGGGCGGGGAAGGCGGGAGCCCGCAGCGGAGGAGGGGCCGCGGGCGGGAGGCGCTGCGAGGCGC
TGCTGGCCCTCGGGCTGCGGGAGCCGGGCTAGGACGCCGAGCGGTGACTCCCCGCCGCTCCCGGGGGCCGTGACGGAGATGCCTACATAGAAGAGTGACA
GCAGCTAGACTAAATGTTTAACTGCTGAACTAGTTCCTCAGGTATCCTGGCTCTAGAGATTGCTATGGGAGATTGGATGACTGTTACAGATCCAGGTCTG
TCTTCAGAAAGCAAAACTATCTCTCAATATACCTCAGAAACAAAGATGTCTCCATCAAGTTTATACTCACAGCAAGTGCTATGTTCTTCAATACCTTTAT
CGAAAAAYGTGCACAGTTTTTTCAGTGCCTTCTGCACAGAAGATAATATTGAACAGAGTATCTCATATCTTGATCAGGAATTGACTACTTTTGGTTTTCC
TTCATTATATGAAGAATCCAAAGGTAAAGAGACAAAGAGAGAGTTAAATATAGTAGCTGTACTAAATTGTATGAATGAGCTGCTTGTGCTTCAGCGGAAG
AACCTTCTAGCTCAGGAAAATGTGGAGACACAGAATTTGAAGCTGGGAAGTGATATGGACCATCTACAGAGCTGCTACTCAAAACTTAAGGAACAACTGG
AAACCTCCAGGAGGGAAATGATTGGGCTTCAGGAAAGAGACAGACAGTTACAATGTAAGAACAGGAATTTGCATCAGCTACTAAAGAATGAGAAAGATGA
GGTGCAAAAATTACAAAATATCATTGCAAGTCGARCTACTCAGTATAATCATGATATGAAGAGAAAAGAGCGTGAATATAATAAACTGAAGGAACGTCTA
CATCAACTTGTTATGAACAAGAAAGATAAGAAAATAGCTATGGACATTTTGAATTATGTCGGGAGAGCTGATGGAAAAAGAGGCTCCTGGAGGACTGGTA
AAACTGAAGCCAGGAATGAAGATGAAATGTATAAAATTCTCTTGAATGATTATGAATATCGTCAGAAACAAATCCTAATGGAAAATGCAGAACTTAAGAA
RGTTCTTCAACAAATGAAAAAGGAAATGATTTCTCTTCTTTCTCCCCAAAAGAAGAAACCTAGAGAAAGAGTAGATGATAGTACAGGAACTGTTATTTCC
GATGTTGAAGAAGATGCCGGGGAACTAAGCAGAGAGAGTATGTGGGACCTTTCCTGTGAAACTGTGAGAGAGCAGCTTACAAACAGCATCAGAAAACAGT
GGAGAATTTTGAAAAGTCATGTAGAAAAGCTTGATAACCAAGTTTCAAAGGTACACCTGGAAGGTTTTAATGATGAAGATGTAATCTCACGACAAGACCA
TGAACAAGAAACTGAAAAACTCGAGTTAGAAATTCAGCAGTGTAAAGAAATGATTAAAACTCAGCAACAGCTTTTACAGCAGCAGCTCGCTACTGCATAT
GATGATGATACCACTTCACTATTACGAGACTGTTATTTGTTGGAAGAAAAGGAACGTCTCAAAGAAGAATGGTCCCTTTTTAAAGAGCAGAAAAAGAATT
TTGAGAGGGAGAGACGAAGCTTTACAGAAGCCGCTATTCGCCTGGGATTGGAGAGAAAGGCATTTGAAGAAGAAAGAGCCAGTTGGTTAAAGCAGCAGTT
TCTAAATATGACTACCTTTGACCACCAGAACTCAGAAAATGTGAAACTTTTCAGTGCCTTCTCAGGAAGTTCTGATTGGGACAATCTTATAGTGCACTCG
AGGCAGCCGCAAAAGAAGCCTCACAGTGTGTCTAATGGGTCTCCAGTTTGCATGTCTAAACTTACTAAATCTCTTCCTGCTTCACCTTCCACTTCAGACT
TTTGCCAGACACGTTCCTGCATATCTGAACATAGTTCAATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAAYGTAC
AAATCAAAAATGGAGTGTGGCRTCAAGACCTGGATCACAGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGATGAC
TTACCTTAGACATGTGGACTGGAATTTTTTTCATTAATGTGTTCATCAAGTTTCACATCTAAGTTGAAACAGGGTGTGTCATAAAGTCAGTTATCTCTAA
TAACTTAAGATGGTCTGAGTTGTTTGTTTGGACTTCCCTGTCTTCCCCCAAAGAGTTGAAATCTTAAATCTATTTAAAAGGATATAAAAGCTTTGGATAT
GTATTTTTAGTAACAGAAGCATCTGGTTCTGTGAATAAAGGAATGTATAGATGTTTGGATGGAAACAAAAGCACTAGACTGAGTTTCCTCTTATAGGTAT
TAAAAATAGCACTTTTAGGAAACTGATTATTGTAAATGTTTAATTTTGTCTCAAATATAGTTGGCATTGGAAGTTTAGCCTTTACTTGAATGTATACTGT
AGATTTTTAACAAAGCGAGTTCTATATTTATTATGTTTAGTGTGGTTTGAAATTACCTCTTTCATATGTTTTAAATAAAGTGAAATTTATGTATGTTTTG
TACATAGATACACATGATTATGTTAAGAGGCTTTAAGATTTAAAAGTTTCACACAACCATAAGTATAGTATTTCATGCCAGTAAAATTTTTTTAGTGGTA
TTCTGTTTACAGATRTATTAGGACCATTGATGCATTACATTTAAGAATTCTCTTTAATACATCTGGGCAATAAATATTGAAAGGTATTCCATGAAGCTGA
GTTCTTTAGATAATCAACACTACTAACATTACATTTTTGAGATTTTTATGACATTAGATTTTTATTTTGTATATGTAGAATATTATAATTTTTAAAAGGA
CTATTGATGATAGAAGAATAGGGGCAAGACGACAAAAGTACCTTTGAATAAAACAATTTAAGAARTTGGTTTAAGATATTGGATGATAGAAGATATTTAA
GATATCTAGATGGTGATATTTTCCTTACAAGATGGGTACCAGTAYAGTAATATCTGTATACTAACTAGGGCTTTGTATTGTCAATAATTTTTTAATAATT
TTTTAATGAGGTATTTACCACTGAAGAAATATGATAATATAAAACCATCAAATTTTATAATTGAGATGATACTCTGGAAAAACATGTCATTTCATTTTCA
GAAAACTCTTAAGCTCTCTTCAGTCTCTGTAATGTTTCTGATTGCATGTTTCTTCATGAAAAGTATGTTGTTGTTTTGATAGTAATAATAATAAATGTAG
GCTCAGCTCTTTCCCAGGATTTTCATCAAAAAGCTTTAAGTGCCTAACCCTGCTTGTCTCTGTACATAGAAGCCTGCACAGATCCAACCCTTGCTAGGTA
TCATAGTTTAGGCCCATTTACCTTCCCCTGTACTGGCAGTTCAGCCGCTTACATGCACTCACCCTGTTTGTGGCTATTTTAAATTCATATTATTAAAAAA
CAAAAAAAACCCACCTATTTGTGTTGTCCATTCACTATACGTAACTATGTAACTCTTTGGAGTTGCATAGCAGCAGCCATTTTTTCAGGGCTGATAGGAT
ATCATTAAGAGTGTCTTATGAGACATTAGTGGATATACTCATAGTAACCATATTTATAGTTTTAAAGAGCTAGCTCTTGAGCATTAGTCACTACCTTCAG
CTTGATGCATGGTCACTTCTTTACTATTTAAAATACTACACATTGTACAAAATATCGAAGACACTACCATATGCTAAAGGAAGAAATCTAGCTGGGATAT
AGGATTTTTGTTGTTTTTGTTTTTGTTTGTTTTGCTATTTAGCAATAACATGGTCAAAAAGGCAATCAGAAATTTTAAATACAGTTAATGGATACATTTG
GCAACAATTTTCCCCCGAGGGTTTTCCATGGTGTACTTTGCAAGAAATAAGCACTCTAATTTTTAAAGTAAATCTCTTATTTTAGCAAATATTATATTTC
ATGACAATGGAGTTCTAGAAAGCAGCATCTGTTTTTTGTTGCGTGTTTCCATTTTAAAGTGAGTTGAGTTCTCAAATTGGAAAGAAAGATTCCTTGAGAC
KTACTTTTAAAATCTAAAGTGTGAAAGAAACAGCAGAGTAAAAGCCAGACTCATTGCACCTTCAATGTCTGCATAGATCCAGAAGTTGTACATTTTACCT
AACAACATCACTTTTGTTGAACATTCCAACTCCAGAATGATCCCCAATCACCCTAATCTCAGAATGCTGGAATGATGTCTGTTGGAAAACCCAGGACTCC
ACACACAAAACTCCTGGGATTTTGTTTCCCATCTCTTTCTAGGTGTTTGCAATGTACAAATAATACAGCTGTGCTAATCTCACATTTAGCCATGATAGAT
GATGGTTCTAGAGTGTACTTCCATTTGTAAGTCCTCCTGATAAGTGCTTTCTTGTTTATCACTATGTAAATCTGAAATATTTTGTACTTCATTTGTTTTT
ATCCATTCTGAATTTTCAAAGCATAAAAATGTCAAAGAAAAATTGAGATAAACATTTTGTTCACCATTAAATGTTTGCATCTGCAGTCTATGATGAGAAA
CAATGAAATTATGACTAAAATTTAACAAATAGTATTTTCTTATAGAAGCAATGTATTAAATGATTAGATACACAGGACAGTTCACAGCAAATTGTTTACT
TACATGGCATAATTGAAATACTGTTATTTGTAAAGAGTTCTATACTGCCTACCTTAGCTAACCAGAATTGTTCATAGACTTGTGATAATATGGTGTTATG
GGAAAACACATTTTGTGCGCATGATGAAGAGAGCACCGTGAATCTAGTCTTGACTGCCCCTGGTGGAACATTTGAAAGCCCTTGGGACTCCAGGAGAGAK
GTTTTTGCAGCATGTATGCTAAATTTGTGAGTTAGCAAGACCCTGCTGTGATTACTATGTTGTACAGATCTTCAAAGTATATTGCCTAATATGAGTCATG
TTATTTCTAGATTGAATTTAAAGTAAGTATGGATTATGGAAGTCTAGTAAATATACTTTTCCCTATTTTTGTCCTTTTTCAGTCTTTTGGTAAGCATTTA
TTAAGTACCTGCTGTATGTCAAGGCTTACTACTGCTTTCCAATCCTTGGTGATATGAAGACAGATAAGCACGCTGCCTGCTATTAGGAATCTGAGCTGAG
TGGAAGGCCAACTATTAAACCTACATTGTAATAAACAATGGTGGATGCTACGGACACATTCAGTCTGTTCATAAAACATGGACTGATGGGTCTGCTCCAG
GCCACATTTGTTTTTTAACAGTAACGTGGCTAGGCTTCCATTTATAAGTCTTAGCATTATTTCCTTTGTGAAGTACTATGTAACAGATGATTGTTTGCTA
GATTTTGTTTTCTACAATCAAAATGTTGACCTGCAAAGCAGTGTAGGATTTTCTCTCCTCAAGAGCGTGTATTATTATCTAGTAGAAAAAGCATTCCCAA
AGACTTGGTCCATGCAGATAAGGATAATGAAATTGCTCACTCTAATCCTTTTTCTAAATACAGTGTTTTTCAAGCTGGATGTAAATTAGAGTGGGTGGAT
ATTGATTAAATTATTTGATTTATATGAAATCAAATGACTGGTTGAGGTTTTTTTGAACATTTACAAATAATGGATTCCTGAGAGCTCAGGAAGTACTGTA
ATGTCAGTGACATATGAAGCTCCTGATAAAGATCCACCTCATTCATATATTTGAGCTTCAGAAATACATGTACCTAGTATAATGCTTAACAGCACATAAT
ATTTGTTGATGAGAAATACACTGATGAAACAACAC

Protein Sequence    (SEQ ID NO:1172):
MGDWMTVTDPGLSSESKTISQYTSETKMSPSSLYSQQVLCSSIPLSKNVHSFFSAFCTEDNIEQSISYLDQELTTFGFPSLYEESKGKETKRELNIVAVL
NCMNELLVLQRKNLLAQENVETQNLKLGSDMDHLQSCYSKLKEQLETSRREMIGLQERDRQLQCKNRNLHQLLKNEKDEVQKLQNIIASRATQYNHDMKR
KEREYNKLKERLHQLVMNKKDKKIAMDILNYVGRADGKRGSWRTGKTEARNEDEMYKILLNDYEYRQKQILMENAELKKVLQQMKKEMISLLSPQKKKPR
ERVDDSTGTVISDVEEDAGELSRESMWDLSCETVREQLTNSIRKQWRILKSHVEKLDNQVSKVHLEGFNDEDVISRQDHEQETEKLELEIQQCKEMIKTQ
QQLLQQQLATAYDDDTTSLLRDCYLLEEKERLKEEWSLFKEQKKNFERERRSFTEAAIRLGLERKAFEEERASWLKQQFLNMTTFDHQNSENVKLFSAFS
GSSDWDNLIVHSRQPQKKPHSVSNGSPVCMSKLTKSLPASPSTSDFCQTRSCISEHSSINVLNITAEEIKPNQVGGECTNQKWSVASRPGSQEGCYSGCS
LSYTNSHVEKDDLP


SNP Information

Context             (SEQ ID NO:8846):
AAAGCAAAACTATCTCTCAATATACCTCAGAAACAAAGATGTCTCCATCAAGTTTATACTCACAGCAAGTGCTATGTTCTTCAATACCTTTATCGAAAAA
Y
GTGCACAGTTTTTTCAGTGCCTTCTGCACAGAAGATAATATTGAACAGAGTATCTCATATCTTGATCAGGAATTGACTACTTTTGGTTTTCCTTCATTAT
Celera SNP ID:            hCV27513299
SNP Position Transcript:  408
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1172, 48, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:8847):
TATCTGAACATAGTTCAATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAATGTACAAATCAAAAATGGAGTGTGGC
R
TCAAGACCTGGATCACAGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGATGACTTACCTTAGACATGTGGACTGG
Celera SNP ID:            hCV16190510
SNP Position Transcript:  2022
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,3)   caucasian(A,6|G,32)   total(A,11|G,35)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1172, 586, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1172, 586, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8848):
AGACTTTTGCCAGACACGTTCCTGCATATCTGAACATAGTTCAATCAATGTACTGAATATAACTGCTGAAGAAATTAAACCAAATCAGGTTGGAGGAGAA
Y
GTACAAATCAAAAATGGAGTGTGGCATCAAGACCTGGATCACAGGAAGGTTGCTATAGTGGATGCTCCTTGAGCTACACAAATTCTCATGTAGAAAAAGA
Celera SNP ID:            hCV8863782
SNP Position Transcript:  1996
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,24|T,12)   total(C,24|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1172, 578, (R,CGT)   (C,TGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1172, 578, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:8849):
TTTTGTATATGTAGAATATTATAATTTTTAAAAGGACTATTGATGATAGAAGAATAGGGGCAAGACGACAAAAGTACCTTTGAATAAAACAATTTAAGAA
R
TTGGTTTAAGATATTGGATGATAGAAGATATTTAAGATATCTAGATGGTGATATTTTCCTTACAAGATGGGTACCAGTATAGTAATATCTGTATACTAAC
Celera SNP ID:            hCV16190511
SNP Position Transcript:  2965
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1172, None   



Context             (SEQ ID NO:8850):
GGGAAAACACATTTTGTGCGCATGATGAAGAGAGCACCGTGAATCTAGTCTTGACTGCCCCTGGTGGAACATTTGAAAGCCCTTGGGACTCCAGGAGAGA
K
GTTTTTGCAGCATGTATGCTAAATTTGTGAGTTAGCAAGACCCTGCTGTGATTACTATGTTGTACAGATCTTCAAAGTATATTGCCTAATATGAGTCATG
Celera SNP ID:            hCV8863783
SNP Position Transcript:  4900
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(G,-|T,-)   SG_12_T(G,3|T,21)   SG_12_G(G,3|T,21)   SG_12_TT(G,5|T,18)   SG_95_G(G,9|T,180)   total(T,240|G,20)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1172, None   



Context             (SEQ ID NO:8851):
ATGACAATGGAGTTCTAGAAAGCAGCATCTGTTTTTTGTTGCGTGTTTCCATTTTAAAGTGAGTTGAGTTCTCAAATTGGAAAGAAAGATTCCTTGAGAC
K
TACTTTTAAAATCTAAAGTGTGAAAGAAACAGCAGAGTAAAAGCCAGACTCATTGCACCTTCAATGTCTGCATAGATCCAGAAGTTGTACATTTTACCTA
Celera SNP ID:            hCV26334529
SNP Position Transcript:  4101
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1172, None   



Context             (SEQ ID NO:8852):
AAGAGACAGACAGTTACAATGTAAGAACAGGAATTTGCATCAGCTACTAAAGAATGAGAAAGATGAGGTGCAAAAATTACAAAATATCATTGCAAGTCGA
R
CTACTCAGTATAATCATGATATGAAGAGAAAAGAGCGTGAATATAATAAACTGAAGGAACGTCTACATCAACTTGTTATGAACAAGAAAGATAAGAAAAT
Celera SNP ID:            hCV27498065
SNP Position Transcript:  835
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1172, 191, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:8853):
AAACTGAAGCCAGGAATGAAGATGAAATGTATAAAATTCTCTTGAATGATTATGAATATCGTCAGAAACAAATCCTAATGGAAAATGCAGAACTTAAGAA
R
GTTCTTCAACAAATGAAAAAGGAAATGATTTCTCTTCTTTCTCCCCAAAAGAAGAAACCTAGAGAAAGAGTAGATGATAGTACAGGAACTGTTATTTCCG
Celera SNP ID:            hCV16183650
SNP Position Transcript:  1101
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1172, 279, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:8854):
TGAATAAAACAATTTAAGAAATTGGTTTAAGATATTGGATGATAGAAGATATTTAAGATATCTAGATGGTGATATTTTCCTTACAAGATGGGTACCAGTA
Y
AGTAATATCTGTATACTAACTAGGGCTTTGTATTGTCAATAATTTTTTAATAATTTTTTAATGAGGTATTTACCACTGAAGAAATATGATAATATAAAAC
Celera SNP ID:            hCV12003202
SNP Position Transcript:  3045
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1172, None   



Context             (SEQ ID NO:8855):
TGATTATGTTAAGAGGCTTTAAGATTTAAAAGTTTCACACAACCATAAGTATAGTATTTCATGCCAGTAAAATTTTTTTAGTGGTATTCTGTTTACAGAT
R
TATTAGGACCATTGATGCATTACATTTAAGAATTCTCTTTAATACATCTGGGCAATAAATATTGAAAGGTATTCCATGAAGCTGAGTTCTTTAGATAATC
Celera SNP ID:            hCV2855701
SNP Position Transcript:  2715
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1172, None   



Gene Number:                 186
Celera Gene:                 hCG25124 - 115000158384717
Celera Transcript:           hCT16248 - 115000158384718
Public Transcript Accession: NM_016233
Celera Protein:              hCP42047 - 197000069368113
Public Protein Accession:    NP_057317
Gene Symbol:                 PADI3
Protein Name:                peptidyl arginine deiminase, type III;PDI3
Celera Genomic Axis:         GA_x5YUV32W3P1(374727..409857)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:476):
GCAGTGTTGRGGTTGGCGGCCACAGCTAAGTCCAACACCAGCATGTCGCTGCAGMGAATCGTGCGTGTGTCCCTGGAGCATCCCACCAGCGCGGTGTGTG
TGGCTGGCGTGGAGACCCTCGTGGACATTTATGGGTCAGTGCCTGAGGGCACAGAAATGTTTGAGGTCTATGGGACGCCTGGCGTGGACATCTACRTCTC
TCCCAACATGGAGAGGGGCCGGGAGCGTGCAGACACCAGGCGGTGGCGCTTTGACGCGACTTTGGAGATCATCGTGGTCATGAACTCCCCCAGCAATGAC
CTCAACGACAGCCATGTTCAGATTTCCTACCACTCCAGCCATGAGCCTCTGCCCCTGGCCTATGCGGTGCTCTACCTCACCTGTGTTGACATCTCTCTGG
ATTGCGACCTGAACTGTGAGGGAAGGCAGGACAGGAACTTTGTAGACAAGCGGCAGTGGGTCTGGGGGCCCAGTGGGTATGGCGGCATCTTGCTGGTGAA
CTGTGACCGTGATGATCCGAGCTGTGATGTCCAGGACAATTGTGACCAGCACRTGCACTGCCTGCAAGACCTGGAAGACATGTCTGTCATGGTCCTGCGG
ACGCAGGGCCCTGCAGCCCTCTTTGATGACCACAAACTTGTCCTCCATACCTCCAGCTATGATGCCAAACGGGCACAGGTCTTCCACATCTGCGGTCCTG
AGGATGTGTGTGAGGCCTATAGGCATGTGCTGGGCCAARATAAGGTGTCCTATGAGGTACCCCGCTTGCATGGGGATGAGGAGCGCTTCTTCGTGGAAGG
CCTGTCCTTCCCTGATGCCGGCTTCACAGGACTCATCTCCTTCCATGTCACTCTGCTGGACGACTCCAACGAGGATTTCTCGGCATCCCCTATCTTCACT
GACACTGTGGTGTTCCGAGTGGCACCCTGGATCATGACGCCCAGCACTCTGCCACCCCTAGAGGTGTATGTGTGCCGTGTGAGGAACAACACGTRTTTTG
TGGATGCGGTGGCAGAGCTGGCCAGGAAGGCCGGCTGCAAGCTGACCATCTGCCCACAGGCCGAGAACCGYAACGACCGCTGGATCCAGGATGAGATGGA
GCTGGGCTACGTTCAGGCGCCGCACAAGACCCTCCCGGTGGTCTTTGACTCYCCAAGGAATGGGGAACTGCAGGATTTCCCTTACAAAAGAATCCTGGGT
CCAGATTTTGGTTACGTGACTCGGGAACCACGYGACAGGTCTGTGAGTGGCCTGGACTCCTTTGGGAACCTGGAGGTCAGCCCTCCAGTGGTGGCCAATG
GGAAAGAGTACCCCCTGGGGAGGATCCTCATTGGGGRCAACCTGCCTGGGTCAAGTGGCCGCAGGGTCACCCAGGTGGTGCGGGACTTCCTCCATGCCCA
GAAGGTGCAGCCCCCCGTGGAGCTCTTTGTGGACTGGTTGGCCGTGGGCCATGTGGATGAGTTTCTGAGCTTTGTCCCTGCCCCCGATGGGAAGGGCTTC
CGGATGCTCCTGGCCAGCCCTGGGGCCTGCTTCAAGCTCTTCCAGGAAAAGCAGAAGTGTGGCCAYGGGAGGGCCCTCCTGTTCCAGGGGGTTGTTGATG
ATGAGCAGGTCAAGACCATCTCCATCAACCAGGTGCTCTCCAATAAAGACCTCATCAACTACAATAAGTTTGTGCAGAGCTGCATCGACTGGAACCGTGA
GGTGCTGAAGCGGGAGCTGGGCCTGGCAGAGTGTGACATCATTGACATCCCACAGCTCTTCAAGACCGAGAGGAAAAAAGCAACGRCCTTCTTCCCTGAC
TTGGTGAACATGCTGGTGCTGGGGAAGCACCTGGGCATCCCCAAGCCCTTTGGGCCCATCATCAATGGCTGCTGCTGCCTGGAGGAGAAGGTGCRGTCCC
TGCTGGAGCCKCTGGGCCTCCACTGCACCTTCATTGATGACTTCACTCCATACCACATGCTGCATGGGGAGGTGCACTGTGGCACCAATGTGTGCAGAAA
GCCCTTCTCTTTCAAGTGGTGGMACATGGTGCCCTGAGACAGCTCCCACCCACCATCCTGTCCCCCTGGGGCGGGCATTGGCCCAGGTGGTGGAGACAGA
GACAGGCCCCTGAACGATAAGCACCAAGAGACCCCAAGGCTCCAGATGGAACACTGAGGGTGACCGTCCCTCTCAGAAGCCTTTTCCCTGGAAGTGTCCA
TGCCTCACCTGCAACCCATGTGGTTCTCAGACTTGAATCTTCTCGGCCCCCCAAAAAGAAGGACCTCATTTCTTATAGCCTCTCCTGTGATTCAACACAA
CCCATGGAGATGTCCCCTTCTCACTCTGAAATCATCCATTTGGGGACAAATCCACATTGGGGTCTAGAAACATCCACGTATCTCATCAGCCATCTTGTCC
TGTGCATCCTAACAGAGGAAGGATCCATGATTCTGCTTTGGTCCAATTGCTTCCTCTCTGCAGAGGAACAACCCTAAAACCAGACCACTCCACGCAGGAC
AGGCAGGAGAGATTCTTCCTAAAGCCTCCCCCATAAAAAGGGAGCTGTGGATCCACTTAGATCAGGGCGGAACCATCTTTCACCCGGCCAAGCTCCTGCC
CAGATGTTGACCCTCACCCAGCGTGAGCTGTCACATAGTAGGAGCTTCTAGATGCATGTGGAAGCAATGAGAGTTGTCCCTTAGCCTTATAAACTCCCCA
TGATCTGACATGCAGAAATCCAGCCTTGTCCAGAATCCTCCTGGAATTTCTTGGAGACGAAAGTATCTGGGGGATTGTTGGGTACTAGGGAGACTGGGTA
CAAGGGTGAAAAGTAGTTCCCATAATACACATGGTTGACTATGGTGATCCACCTTGTGATGGTTAATATTAGGTGTCTGGAGAAGGTTGCTTCATTGGCC
CTGGGACTTCTCTCTGCAGGAGGAGAGAMCGCTGCCTCTCCTCTGGATTGGTCTCAGGCTCTCTGTTGGCCTTTGGTCAGCGTTTCCACATCCTGCTCTG
CTGCAGGAGAGGGGGCTAAGGGGCTGGATCCACCAAGGCAGCTCACAGCGGGAAAACTCTGGGAMTGAACCACTGAATTCAGGGGATGGGGGTGGGGGGG
CGGTTCTCGAGGTGTGTGCCAGCTACACGTGTGTTCTGTATGGGTCCAGCTGCGTTTCCATCACTCGCTAATAAATCAACAGAAACAC

Protein Sequence    (SEQ ID NO:1173):
MSLQRIVRVSLEHPTSAVCVAGVETLVDIYGSVPEGTEMFEVYGTPGVDIYISPNMERGRERADTRRWRFDATLEIIVVMNSPSNDLNDSHVQISYHSSH
EPLPLAYAVLYLTCVDISLDCDLNCEGRQDRNFVDKRQWVWGPSGYGGILLVNCDRDDPSCDVQDNCDQHVHCLQDLEDMSVMVLRTQGPAALFDDHKLV
LHTSSYDAKRAQVFHICGPEDVCEAYRHVLGQDKVSYEVPRLHGDEERFFVEGLSFPDAGFTGLISFHVTLLDDSNEDFSASPIFTDTVVFRVAPWIMTP
STLPPLEVYVCRVRNNTCFVDAVAELARKAGCKLTICPQAENRNDRWIQDEMELGYVQAPHKTLPVVFDSPRNGELQDFPYKRILGPDFGYVTREPRDRS
VSGLDSFGNLEVSPPVVANGKEYPLGRILIGGNLPGSSGRRVTQVVRDFLHAQKVQPPVELFVDWLAVGHVDEFLSFVPAPDGKGFRMLLASPGACFKLF
QEKQKCGHGRALLFQGVVDDEQVKTISINQVLSNKDLINYNKFVQSCIDWNREVLKRELGLAECDIIDIPQLFKTERKKATAFFPDLVNMLVLGKHLGIP
KPFGPIINGCCCLEEKVRSLLEPLGLHCTFIDDFTPYHMLHGEVHCGTNVCRKPFSFKWWNMVP


SNP Information

Context             (SEQ ID NO:8856):
TGCTGGTGCTGGGGAAGCACCTGGGCATCCCCAAGCCCTTTGGGCCCATCATCAATGGCTGCTGCTGCCTGGAGGAGAAGGTGCGGTCCCTGCTGGAGCC
K
CTGGGCCTCCACTGCACCTTCATTGATGACTTCACTCCATACCACATGCTGCATGGGGAGGTGCACTGTGGCACCAATGTGTGCAGAAAGCCCTTCTCTT
Celera SNP ID:            hCV1296890
SNP Position Transcript:  1911
SNP Source:               Applera
Population(Allele,Count): african american(G,8|T,14)   caucasian(G,14|T,22)   total(G,22|T,36)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 623, (P,CCG)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|G,7)      total(G,7|T,5) ;JBIC-allele(G,498|T,997)   total(G,498|T,997)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 623, (P,CCG)   (P,CCT)      



Context             (SEQ ID NO:8857):
TGAGCTTTGTCCCTGCCCCCGATGGGAAGGGCTTCCGGATGCTCCTGGCCAGCCCTGGGGCCTGCTTCAAGCTCTTCCAGGAAAAGCAGAAGTGTGGCCA
Y
GGGAGGGCCCTCCTGTTCCAGGGGGTTGTTGATGATGAGCAGGTCAAGACCATCTCCATCAACCAGGTGCTCTCCAATAAAGACCTCATCAACTACAATA
Celera SNP ID:            hCV25604783
SNP Position Transcript:  1566
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 508, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:8858):
CTGCACCTTCATTGATGACTTCACTCCATACCACATGCTGCATGGGGAGGTGCACTGTGGCACCAATGTGTGCAGAAAGCCCTTCTCTTTCAAGTGGTGG
M
ACATGGTGCCCTGAGACAGCTCCCACCCACCATCCTGTCCCCCTGGGGCGGGCATTGGCCCAGGTGGTGGAGACAGAGACAGGCCCCTGAACGATAAGCA
Celera SNP ID:            hCV25604805
SNP Position Transcript:  2023
SNP Source:               Applera
Population(Allele,Count): african american(A,22)   caucasian(A,35|C,1)   total(A,57|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 661, (N,AAC)   (H,CAC)   



Context             (SEQ ID NO:8859):
CGACTGGAACCGTGAGGTGCTGAAGCGGGAGCTGGGCCTGGCAGAGTGTGACATCATTGACATCCCACAGCTCTTCAAGACCGAGAGGAAAAAAGCAACG
R
CCTTCTTCCCTGACTTGGTGAACATGCTGGTGCTGGGGAAGCACCTGGGCATCCCCAAGCCCTTTGGGCCCATCATCAATGGCTGCTGCTGCCTGGAGGA
Celera SNP ID:            hCV25604795
SNP Position Transcript:  1786
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 582, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:8860):
TTCACTGACACTGTGGTGTTCCGAGTGGCACCCTGGATCATGACGCCCAGCACTCTGCCACCCCTAGAGGTGTATGTGTGCCGTGTGAGGAACAACACGT
R
TTTTGTGGATGCGGTGGCAGAGCTGGCCAGGAAGGCCGGCTGCAAGCTGACCATCTGCCCACAGGCCGAGAACCGCAACGACCGCTGGATCCAGGATGAG
Celera SNP ID:            hCV25604831
SNP Position Transcript:  995
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 318, (Y,TAT)   (C,TGT)   



Context             (SEQ ID NO:8861):
CCTGACTTGGTGAACATGCTGGTGCTGGGGAAGCACCTGGGCATCCCCAAGCCCTTTGGGCCCATCATCAATGGCTGCTGCTGCCTGGAGGAGAAGGTGC
R
GTCCCTGCTGGAGCCGCTGGGCCTCCACTGCACCTTCATTGATGACTTCACTCCATACCACATGCTGCATGGGGAGGTGCACTGTGGCACCAATGTGTGC
Celera SNP ID:            hCV25604807
SNP Position Transcript:  1895
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,33)   total(A,2|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 618, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8862):
AGGTCTGTGAGTGGCCTGGACTCCTTTGGGAACCTGGAGGTCAGCCCTCCAGTGGTGGCCAATGGGAAAGAGTACCCCCTGGGGAGGATCCTCATTGGGG
R
CAACCTGCCTGGGTCAAGTGGCCGCAGGGTCACCCAGGTGGTGCGGGACTTCCTCCATGCCCAGAAGGTGCAGCCCCCCGTGGAGCTCTTTGTGGACTGG
Celera SNP ID:            hCV16185494
SNP Position Transcript:  1337
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 432, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:8863):
GTGTGTGGCTGGCGTGGAGACCCTCGTGGACATTTATGGGTCAGTGCCTGAGGGCACAGAAATGTTTGAGGTCTATGGGACGCCTGGCGTGGACATCTAC
R
TCTCTCCCAACATGGAGAGGGGCCGGGAGCGTGCAGACACCAGGCGGTGGCGCTTTGACGCGACTTTGGAGATCATCGTGGTCATGAACTCCCCCAGCAA
Celera SNP ID:            hCV25604817
SNP Position Transcript:  196
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,39|G,1)   total(A,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 52, (I,ATC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,232|A,1261)   total(G,232|A,1261) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 52, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:8864):
GCAGTGTTGGGGTTGGCGGCCACAGCTAAGTCCAACACCAGCATGTCGCTGCAG
M
GAATCGTGCGTGTGTCCCTGGAGCATCCCACCAGCGCGGTGTGTGTGGCTGGCGTGGAGACCCTCGTGGACATTTATGGGTCAGTGCCTGAGGGCACAGA
Celera SNP ID:            hCV9779109
SNP Position Transcript:  55
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,11)      total(A,11|C,1) ;JBIC-allele(C,229|A,1236)   total(A,1236|C,229)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 5, (R,AGA)   (R,CGA)      



Context             (SEQ ID NO:8865):
TGTCCTCCATACCTCCAGCTATGATGCCAAACGGGCACAGGTCTTCCACATCTGCGGTCCTGAGGATGTGTGTGAGGCCTATAGGCATGTGCTGGGCCAA
R
ATAAGGTGTCCTATGAGGTACCCCGCTTGCATGGGGATGAGGAGCGCTTCTTCGTGGAAGGCCTGTCCTTCCCTGATGCCGGCTTCACAGGACTCATCTC
Celera SNP ID:            hCV27268797
SNP Position Transcript:  739
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 233, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:8866):
GCAGTGTTG
R
GGTTGGCGGCCACAGCTAAGTCCAACACCAGCATGTCGCTGCAGAGAATCGTGCGTGTGTCCCTGGAGCATCCCACCAGCGCGGTGTGTGTGGCTGGCGT
Celera SNP ID:            hCV27857004
SNP Position Transcript:  10
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,38)   total(A,5|G,69)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1173, None



Context             (SEQ ID NO:8867):
GCCCACAGGCCGAGAACCGCAACGACCGCTGGATCCAGGATGAGATGGAGCTGGGCTACGTTCAGGCGCCGCACAAGACCCTCCCGGTGGTCTTTGACTC
Y
CCAAGGAATGGGGAACTGCAGGATTTCCCTTACAAAAGAATCCTGGGTCCAGATTTTGGTTACGTGACTCGGGAACCACGCGACAGGTCTGTGAGTGGCC
Celera SNP ID:            hCV25604770
SNP Position Transcript:  1152
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 370, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:8868):
TCCCGGTGGTCTTTGACTCCCCAAGGAATGGGGAACTGCAGGATTTCCCTTACAAAAGAATCCTGGGTCCAGATTTTGGTTACGTGACTCGGGAACCACG
Y
GACAGGTCTGTGAGTGGCCTGGACTCCTTTGGGAACCTGGAGGTCAGCCCTCCAGTGGTGGCCAATGGGAAAGAGTACCCCCTGGGGAGGATCCTCATTG
Celera SNP ID:            hCV22274699
SNP Position Transcript:  1233
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,34|T,6)   total(C,70|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 397, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:8869):
ACATGGTTGACTATGGTGATCCACCTTGTGATGGTTAATATTAGGTGTCTGGAGAAGGTTGCTTCATTGGCCCTGGGACTTCTCTCTGCAGGAGGAGAGA
M
CGCTGCCTCTCCTCTGGATTGGTCTCAGGCTCTCTGTTGGCCTTTGGTCAGCGTTTCCACATCCTGCTCTGCTGCAGGAGAGGGGGCTAAGGGGCTGGAT
Celera SNP ID:            hCV16181588
SNP Position Transcript:  2929
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,302|A,1183)   total(A,1183|C,302)no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1173, None   



Context             (SEQ ID NO:8870):
GCAGTGGGTCTGGGGGCCCAGTGGGTATGGCGGCATCTTGCTGGTGAACTGTGACCGTGATGATCCGAGCTGTGATGTCCAGGACAATTGTGACCAGCAC
R
TGCACTGCCTGCAAGACCTGGAAGACATGTCTGTCATGGTCCTGCGGACGCAGGGCCCTGCAGCCCTCTTTGATGACCACAAACTTGTCCTCCATACCTC
Celera SNP ID:            hCV15963388
SNP Position Transcript:  553
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,2|G,38)   total(A,3|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 171, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,235|G,1256)   total(G,1256|A,235) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1173, 171, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:8871):
GTTGGCCTTTGGTCAGCGTTTCCACATCCTGCTCTGCTGCAGGAGAGGGGGCTAAGGGGCTGGATCCACCAAGGCAGCTCACAGCGGGAAAACTCTGGGA
M
TGAACCACTGAATTCAGGGGATGGGGGTGGGGGGGCGGTTCTCGAGGTGTGTGCCAGCTACACGTGTGTTCTGTATGGGTCCAGCTGCGTTTCCATCACT
Celera SNP ID:            hCV16181589
SNP Position Transcript:  3065
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1173, None   



Context             (SEQ ID NO:8872):
TGTGCCGTGTGAGGAACAACACGTGTTTTGTGGATGCGGTGGCAGAGCTGGCCAGGAAGGCCGGCTGCAAGCTGACCATCTGCCCACAGGCCGAGAACCG
Y
AACGACCGCTGGATCCAGGATGAGATGGAGCTGGGCTACGTTCAGGCGCCGCACAAGACCCTCCCGGTGGTCTTTGACTCCCCAAGGAATGGGGAACTGC
Celera SNP ID:            hCV1296871
SNP Position Transcript:  1071
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,39|T,1)   total(C,72|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 343, (R,CGC)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,11)      total(C,11|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1173, 343, (R,CGC)   (R,CGT)      



Gene Number:                 187
Celera Gene:                 hCG25127 - 115000158384456
Celera Transcript:           hCT16251 - 115000158384457
Public Transcript Accession: 
Celera Protein:              hCP42050 - 197000069368099
Public Protein Accession:    
Gene Symbol:                 LOC81569
Protein Name:                actin like protein
Celera Genomic Axis:         GA_x5YUV32W3P1(884317..956060)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:477):
TGCTCACAGAGTAGGCTGCGGCACCACGTGCAGCCGCTCTCGTGCAGGCGTTTGCAGTGTGCAGCTGAGTTCGGCAGCTCACACAGCACCCCTTTCAAGT
TGTTTTGCAGTGGGTGCCTCTTGTGAGACACTGTTTCTGAGAGCAGCTTTTGTGGCATCTTACAGGGCAGATTTCTGGTCCCACCCACCTCTGCCTCCGC
CATGGCTKCAAGAACCGTTATCATTGACCACGGGTCTGGCTTTTTGAAGGCTGGCACGGCCGGMTGGAATGAGCCTCAGATGGTCTTCCCRAACATCGTG
AACTACCTACCGTGCAAGGAGAACCCTGGCCCCAGCTATGCCCGTAGGCGTGTGAGCCTGGGCRTCGACATTTGCCATCCTGACACCTTTAGCTACCCCA
TCGAGCGGGGCCGCATCCTCAACTGGGAGGGTGTGCAGTACCTCTGGTCATTTGTGTTGGAGAACCACAGACGGGAGCAAGAGGTCCCCCCTGTGATCAT
CACGGAGACACCCTTGAGGGAGCCTGCGGACCGAAAGAAGATGCTGGAGATCCTGTTTGAGTTGCTGCATGTCCCATCGGTCCTCCTGGCCGACCAGCTG
CAGATGTCCCTGTATGCCTCTGGCCTCCTGACCGGAGTGGTGGTTGATTCTGGCTATGGCCTGACCCGCGTGCAGCCTTTCCACCAGGGCCGCCCCTTGC
CCGCCAGCGGCAAGACGCTGGAGTTCGCCGGCCAGGATCTCTCCGCCTATCTCCTCAAGAGTCTCTTTAAGGAAGATTGCGATAGACGCTGCCTGTTTCA
GCTGGAGACAGTCGCCGTGACTCAGATGAACAAGTGCTACGTGCCGCAGAATCTGGGGGAGGCCCTGGAYTTTCGTGAGAGGCAGCAGAGTGCCTTGGAT
GAGAGCAACACCTATCAGCTCCCAGACGGCTCCYGCGTGGAGCTGACCCCCATGCAGCGGGTGGCTCCTGAGATGTTCTTTAGCCCGCAGGTGTTCGAGC
AGCCGGGGCCCAGCATCCCACGGGCCATTGTGGAATCCGTGGAGTCCTGCGAGATCTCCCTGCGCCCCCTGCTGGTCTCCCACGTGATGGCCTGCGGGGG
CAACACCCTCTATCCCGGGTTCACAAAGCGCCTGTTCAGGGAGCTGATGGGGGATCACGTCTCCTCCACCAAGGCCACAGTCTGGGAGGGTTCCAATAGA
AACTTTAGTGTCTGGCTAGGAGCGTCCGTGGTGGCTCACCTTTCTACCTACCAGTCTGAGTGGATGTCCCGAGAGGAGTATGGTGAGCATATGAGGATGT
GACCCTACTGGCTCACTCCTGAGAATGGGCTCCTGTTAGATGGGCACGGGCGGATTAATTTTAGCAAAATGTTCTGGGTGGGGGTAGAATGAGGTGGGGT
GGGGTGAGCTGGCTTTGGAATTCTAGGGGCATGAGGGTATTTTTTAGGTTCTAAGGTTTTATCTTGTTGCAAGAGTGGGACCTACCCAAGGGGGAAGACA
AGATGTCATCCTTGGAAAYCCTGCAGGGGACAGTTTTTCCAGGGTGGCCTATCATTGGGGTATGAGTGGCTGACTGCCATCTCCATGCCTGAGAGCCACT
GATTTTTCATTGGCATTTCCCCTGGTTTGTCTCATTCTTCTTGGTTGAGTAGGTTTTAACTGGGGTAGCACTCCTGCTAGGAGTCCCAATTATTTTTGAC
TAGGGGATGGGGGACAGTTGACATTTCTGGTCCTACAGGCCCTTTCTGGCCAGGGAGGCATTGCTGCAGGTGAGCCTGGGATGCCCTTGCCACCCGTGGT
TGGATCTTGTTTTATATCTGCAAATAAATAGCTTGTTTGGAAGCAATG

Protein Sequence    (SEQ ID NO:1174):
MAARTVIIDHGSGFLKAGTAGWNEPQMVFPNIVNYLPCKENPGPSYARRRVSLGIDICHPDTFSYPIERGRILNWEGVQYLWSFVLENHRREQEVPPVII
TETPLREPADRKKMLEILFELLHVPSVLLADQLQMSLYASGLLTGVVVDSGYGLTRVQPFHQGRPLPASGKTLEFAGQDLSAYLLKSLFKEDCDRRCLFQ
LETVAVTQMNKCYVPQNLGEALDFRERQQSALDESNTYQLPDGSRVELTPMQRVAPEMFFSPQVFEQPGPSIPRAIVESVESCEISLRPLLVSHVMACGG
NTLYPGFTKRLFRELMGDHVSSTKATVWEGSNRNFSVWLGASVVAHLSTYQSEWMSREEYGEHMRM


SNP Information

Context             (SEQ ID NO:8873):
CTGCCTCCGCCATGGCTGCAAGAACCGTTATCATTGACCACGGGTCTGGCTTTTTGAAGGCTGGCACGGCCGGCTGGAATGAGCCTCAGATGGTCTTCCC
R
AACATCGTGAACTACCTACCGTGCAAGGAGAACCCTGGCCCCAGCTATGCCCGTAGGCGTGTGAGCCTGGGCATCGACATTTGCCATCCTGACACCTTTA
Celera SNP ID:            hCV3041942
SNP Position Transcript:  291
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,10)   total(G,10|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 30, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:8874):
AGGAAGATTGCGATAGACGCTGCCTGTTTCAGCTGGAGACAGTCGCCGTGACTCAGATGAACAAGTGCTACGTGCCGCAGAATCTGGGGGAGGCCCTGGA
Y
TTTCGTGAGAGGCAGCAGAGTGCCTTGGATGAGAGCAACACCTATCAGCTCCCAGACGGCTCCCGCGTGGAGCTGACCCCCATGCAGCGGGTGGCTCCTG
Celera SNP ID:            hCV778921
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,1)   caucasian(C,31|T,5)   total(C,36|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 223, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 223, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:8875):
CAGTGGGTGCCTCTTGTGAGACACTGTTTCTGAGAGCAGCTTTTGTGGCATCTTACAGGGCAGATTTCTGGTCCCACCCACCTCTGCCTCCGCCATGGCT
K
CAAGAACCGTTATCATTGACCACGGGTCTGGCTTTTTGAAGGCTGGCACGGCCGGCTGGAATGAGCCTCAGATGGTCTTCCCGAACATCGTGAACTACCT
Celera SNP ID:            hCV3041943
SNP Position Transcript:  208
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,3)   caucasian(G,6|T,8)   total(G,31|T,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1174, 3, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,1)   caucasian(G,16|T,22)   total(G,23|T,23)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1174, 3, (A,GCA)   (S,TCA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|G,10)      total(G,10|T,1) ;JBIG-allele(T,643|G,834)   total(T,643|G,834)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1174, 3, (A,GCA)   (S,TCA)      3, (S,TCA)   (A,GCA)      



Context             (SEQ ID NO:8876):
GTGCTACGTGCCGCAGAATCTGGGGGAGGCCCTGGACTTTCGTGAGAGGCAGCAGAGTGCCTTGGATGAGAGCAACACCTATCAGCTCCCAGACGGCTCC
Y
GCGTGGAGCTGACCCCCATGCAGCGGGTGGCTCCTGAGATGTTCTTTAGCCCGCAGGTGTTCGAGCAGCCGGGGCCCAGCATCCCACGGGCCATTGTGGA
Celera SNP ID:            hCV27484144
SNP Position Transcript:  934
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1174, 245, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:8877):
AATTCTAGGGGCATGAGGGTATTTTTTAGGTTCTAAGGTTTTATCTTGTTGCAAGAGTGGGACCTACCCAAGGGGGAAGACAAGATGTCATCCTTGGAAA
Y
CCTGCAGGGGACAGTTTTTCCAGGGTGGCCTATCATTGGGGTATGAGTGGCTGACTGCCATCTCCATGCCTGAGAGCCACTGATTTTTCATTGGCATTTC
Celera SNP ID:            hCV27484145
SNP Position Transcript:  1519
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,49|C,1434)   total(C,1434|T,49) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1174, None   



Context             (SEQ ID NO:8878):
CTGGAATGAGCCTCAGATGGTCTTCCCGAACATCGTGAACTACCTACCGTGCAAGGAGAACCCTGGCCCCAGCTATGCCCGTAGGCGTGTGAGCCTGGGC
R
TCGACATTTGCCATCCTGACACCTTTAGCTACCCCATCGAGCGGGGCCGCATCCTCAACTGGGAGGGTGTGCAGTACCTCTGGTCATTTGTGTTGGAGAA
Celera SNP ID:            hCV25982841
SNP Position Transcript:  364
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1174, 55, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:8879):
AGGGCAGATTTCTGGTCCCACCCACCTCTGCCTCCGCCATGGCTGCAAGAACCGTTATCATTGACCACGGGTCTGGCTTTTTGAAGGCTGGCACGGCCGG
M
TGGAATGAGCCTCAGATGGTCTTCCCGAACATCGTGAACTACCTACCGTGCAAGGAGAACCCTGGCCCCAGCTATGCCCGTAGGCGTGTGAGCCTGGGCA
Celera SNP ID:            hCV15751611
SNP Position Transcript:  264
SNP Source:               Applera
Population(Allele,Count): african american(C,6)   caucasian(A,26|C,12)   total(A,26|C,18)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 21, (G,GGA)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,15)   caucasian(A,11|C,3)   total(A,24|C,18)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 21, (G,GGA)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1174, 21, (G,GGA)   (G,GGC)      



Gene Number:                 188
Celera Gene:                 hCG25147 - 146000220816878
Celera Transcript:           hCT16272 - 146000220816879
Public Transcript Accession: NM_017821
Celera Protein:              hCP42065 - 197000064953228
Public Protein Accession:    NP_060291
Gene Symbol:                 RHBDL2
Protein Name:                rhomboid, veinlet-like 2 (Drosophila);FLJ20435;MGC16997;RRP2
Celera Genomic Axis:         GA_x5YUV32W802(44198866..44254836)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:478):
ACGGAGGAGCGCCTGGCAGAGCGGGATCTTCAGGGCAGCGGGCAACCCCTTGGCCCAGGAAGCCTGGAACGCAAGGACCGGAGGGCGTGGGCTGGGACGC
CCCTACCTTGGTCTTTCAGGGAAAGGCCTTGGAAAGCAGTCGTTGCGCCAGACAGCCCAGGGAAGAGCGGCAGCCTGAGGACCTAGGGCCACCTGCTGTT
CCCTGGGATTCATGTCCTTCTGGGGAGGAGGGAGGACCCAGGACAATGGCTGCTGTTCATGATCTGGAGATGGAGAGCATGAATCTGAATATGGGGAGAG
AGATGAAAGAAGAGCTGGAGGAAGAGGAGAAAATGAGAGAGGATGGGGGAGGTAAAGATCGGGCCAAGAGTAAAAAGGTCCACAGGATTGTCTCAAAATG
GATGCTGCCCGAAAAGTCCCRAGGAACATACTTGGAGAGAGCTAACTGCTTCCCGCCTCCCGTGTTCATCATCTCCATCAGCCTGGCCGAGCTGGCAGTG
TTTATTTACTATGCTGTGTGGAAGCCTCAGAAACAGTGGATCACGTTGGACACAGGCATCTTGGAGAGTCCCTTTATCTACAGTCCTGAGAAGAGGGAGG
AAGCCTGGAGGTTTATCTCATACATGCTGGTACATGCTGGAGTTCAGCACATCTTGGGGAATCTTTGTATGCAGCTTGTTTTGGGTATTCCCTTGGAAAT
GGTCCACAAAGGCCTCCGTGTGGGGCTGGTGTACCTGGCAGGAGTGATTGCAGGGTCCCTTGCCAGCTCCATCTTTGACCCACTCAGATATCTTGTGGGA
GCTTCAGGAGGAGTCTATGCTCTGATGGGAGGCTATTTTATGAATGTTCTGGTGAATTTTCAAGAAATGATTCCTGCCTTTGGAATTTTCAGACTGCTGA
TCATCATCCTGATAATTGTGTTGGACATGGGATTTGCTCTCTATAGAAGGTTCTTTGTTCCTGAAGATGGGTCTCCGGTGTCTTTTGCAGCTCACATTGC
AGGTGGATTTGCTGGAATGTCCATTGGCTACACGGTGTTTAGCTGCTTTGATAAAGCACTGMTGAAAGATCCAAGGTTTTGGATAGCAATTGCTGCATAT
TTAGCTTGTGTCTTATTTGCTGTGTTTTTCAACATTTTCCTATCTCCAGCAAACTGACCTGCCCCTATTGTAAGTCAATTAATAAAAAGAGCCATCTGGA
GGAAATAAAAAAAAAAGGAAGACTCTATGAAGAAACAGAGAAGTCTCAGMAAAGGCTAACAATTTTATATAGAGGACAAAACAGCATTAAACTCATCAGT
TGCAAAGATTGCCTATAAAAGGACCTTAGGATTTAAGGAAGGGGCTTCTTAATGTAGAAAGGGAAGAAGAAGAGAGAAAAGAAGGGTAGTAAAAACTAGA
GATTGGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAAATCACCTGAGGTCATGAGTTCAAGACCAGCCTGA
CCAATATGGTGAAACCCTGTCTCTACTAAAGAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGCGAGGCTGAGGCAG
GAGAATTGCTTGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGACACTCGGTCTCAAAAAACA
AAACAAAACAAAACAAAATTAGAGATTGGGTCTTTCCCAGGCATATGGTATTCTATAAAACAGACTTACTCTCCTTGGAGGATATATTTTGGAGAATGCT
TCATAAAATCTATGAATACTGTACAATGCTGATAATAAAAACTTTTTATACCTGT

Protein Sequence    (SEQ ID NO:1175):
MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRGTYLERANCFPPPVFIISISLAELAVFIYYAVWKPQKQWIT
LDTGILESPFIYSPEKREEAWRFISYMLVHAGVQHILGNLCMQLVLGIPLEMVHKGLRVGLVYLAGVIAGSLASSIFDPLRYLVGASGGVYALMGGYFMN
VLVNFQEMIPAFGIFRLLIIILIIVLDMGFALYRRFFVPEDGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALMKDPRFWIAIAAYLACVLFAVFFNIFLS
PAN


SNP Information

Context             (SEQ ID NO:8880):
TGAAGATGGGTCTCCGGTGTCTTTTGCAGCTCACATTGCAGGTGGATTTGCTGGAATGTCCATTGGCTACACGGTGTTTAGCTGCTTTGATAAAGCACTG
M
TGAAAGATCCAAGGTTTTGGATAGCAATTGCTGCATATTTAGCTTGTGTCTTATTTGCTGTGTTTTTCAACATTTTCCTATCTCCAGCAAACTGACCTGC
Celera SNP ID:            hCV1976610
SNP Position Transcript:  1062
SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,21)   caucasian(A,5|C,7)   total(A,14|C,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1175, 273, (M,ATG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,5)      total(A,5|C,2) ;no_pop(C,-|A,-)   JBIC-allele(A,396|C,1049)   total(C,1049|A,396) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1175, 273, (M,ATG)   (L,CTG)      273, (L,CTG)   (M,ATG)      



Context             (SEQ ID NO:8881):
GAAGAGGAGAAAATGAGAGAGGATGGGGGAGGTAAAGATCGGGCCAAGAGTAAAAAGGTCCACAGGATTGTCTCAAAATGGATGCTGCCCGAAAAGTCCC
R
AGGAACATACTTGGAGAGAGCTAACTGCTTCCCGCCTCCCGTGTTCATCATCTCCATCAGCCTGGCCGAGCTGGCAGTGTTTATTTACTATGCTGTGTGG
Celera SNP ID:            hCV27837893
SNP Position Transcript:  421
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1175, 59, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:8882):
CAAACTGACCTGCCCCTATTGTAAGTCAATTAATAAAAAGAGCCATCTGGAGGAAATAAAAAAAAAAGGAAGACTCTATGAAGAAACAGAGAAGTCTCAG
M
AAAGGCTAACAATTTTATATAGAGGACAAAACAGCATTAAACTCATCAGTTGCAAAGATTGCCTATAAAAGGACCTTAGGATTTAAGGAAGGGGCTTCTT
Celera SNP ID:            hCV1976611
SNP Position Transcript:  1250
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|C,4)   total(A,2|C,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1175, None   



Gene Number:                 188
Celera Gene:                 hCG25147 - 146000220816878
Celera Transcript:           hCT2333657 - 146000220816891
Public Transcript Accession: NM_017821
Celera Protein:              hCP1810588 - 197000064953229
Public Protein Accession:    NP_060291
Gene Symbol:                 RHBDL2
Protein Name:                rhomboid, veinlet-like 2 (Drosophila);FLJ20435;MGC16997;RRP2
Celera Genomic Axis:         GA_x5YUV32W802(44221329..44254836)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:479):
GAAAGGCCTTGGAAAGCAGTCGTTGCGCCAGACAGCCCAGGGAAGAGCGGCAGCCTGAGGACCTAGGGCCACCTGCTGTTCCCTGGGATTCATGTCCTTC
TGGGGAGGAGGGAGGACCCAGGACAATGGCTGCTGTTCATGATCTGGAGATGGAGAGCATGAATCTGAATATGGGGAGAGAGATGAAAGAAGAGCTGGAG
GAAGAGGAGAAAATGAGAGAGGATGGGGGAGGTAAAGATCGGGCCAAGAGTAAAAAGGTCCACAGGATTGTCTCAAAATGGATGCTGCCCGAAAAGTCCC
RAGGAACATACTTGGAGAGAGCTAACTGCTTCCCGCCTCCCGTGTTCATCATCTCCATCAGCCTGGCCGAGCTGGCAGTGTTTATTTACTATGCTGTGTG
GAAGCCTCAGAAACAGTGGATCACGTTGGACACAGGCATCTTGGAGAGTCCCTTTATCTACAGTCCTGAGAAGAGGGAGGAAGCCTGGAGGTTTATCTCA
TACATGCTGGTACATGCTGGAGTTCAGCACATCTTGGGGAATCTTTGTATGCAGCTTGTTTTGGGTATTCCCTTGGAAATGGTCCACAAAGGCCTCCGTG
TGGGGCTGGTGTACCTGGCAGGAGTGATTGCAGGGTCCCTTGCCAGCTCCATCTTTGACCCACTCAGATATCTTGTGGGAGCTTCAGGAGGAGTCTATGC
TCTGATGGGAGGCTATTTTATGAATGTTCTGGTGAATTTTCAAGAAATGATTCCTGCCTTTGGAATTTTCAGACTGCTGATCATCATCCTGATAATTGTG
TTGGACATGGGATTTGCTCTCTATAGAAGGTTCTTTGTTCCTGAAGATGGGTCTCCGGTGTCTTTTGCAGCTCACATTGCAGGTGGATTTGCTGGAATGT
CCATTGGCTACACGGTGTTTAGCTGCTTTGATAAAGCACTGMTGAAAGATCCAAGGTTTTGGATAGCAATTGCTGCATATTTAGCTTGTGTCTTATTTGC
TGTGTTTTTCAACATTTTCCTATCTCCAGCAAACTGACCTGCCCCTATTGTAAGTCAATTAATAAAAAGAGCCATCTGGAGGAAATAAAAAAAAAAGGAA
GACTCTATGAAGAAACAGAGAAGTCTCAGMAAAGGCTAACAATTTTATATAGAGGACAAAACAGCATTAAACTCATCAGTTGCAAAGATTGCCTATAAAA
GGACCTTAGGATTTAAGGAAGGGGCTTCTTAATGTAGAAAGGGAAGAAGAAGAGAGAAAAGAAGGGTAGTAAAAACTAGAGATTGGGGCCAGGCGCAGTG
GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAAATCACCTGAGGTCATGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGT
CTCTACTAAAGAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGCGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGG
AGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGACACTCGGTCTCAAAAAACAAAACAAAACAAAACAAAATT
AGAGATTGGGTCTTTCCCAGGCATATGGTATTCTATAAAACAGACTTACTCTCCTTGGAGGATATATTTTGGAGAATGCTTCATAAAATCTATGAATACT
GTACAATGCTGATAATAAAAACTTTTTATACCTGT

Protein Sequence    (SEQ ID NO:1176):
MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRGTYLERANCFPPPVFIISISLAELAVFIYYAVWKPQKQWIT
LDTGILESPFIYSPEKREEAWRFISYMLVHAGVQHILGNLCMQLVLGIPLEMVHKGLRVGLVYLAGVIAGSLASSIFDPLRYLVGASGGVYALMGGYFMN
VLVNFQEMIPAFGIFRLLIIILIIVLDMGFALYRRFFVPEDGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALMKDPRFWIAIAAYLACVLFAVFFNIFLS
PAN


SNP Information

Context             (SEQ ID NO:8883):
TGAAGATGGGTCTCCGGTGTCTTTTGCAGCTCACATTGCAGGTGGATTTGCTGGAATGTCCATTGGCTACACGGTGTTTAGCTGCTTTGATAAAGCACTG
M
TGAAAGATCCAAGGTTTTGGATAGCAATTGCTGCATATTTAGCTTGTGTCTTATTTGCTGTGTTTTTCAACATTTTCCTATCTCCAGCAAACTGACCTGC
Celera SNP ID:            hCV1976610
SNP Position Transcript:  942
SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,21)   caucasian(A,5|C,7)   total(A,14|C,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1176, 273, (M,ATG)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,5)      total(A,5|C,2) ;no_pop(C,-|A,-)   JBIC-allele(A,396|C,1049)   total(C,1049|A,396) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1176, 273, (M,ATG)   (L,CTG)      273, (L,CTG)   (M,ATG)      



Context             (SEQ ID NO:8884):
GAAGAGGAGAAAATGAGAGAGGATGGGGGAGGTAAAGATCGGGCCAAGAGTAAAAAGGTCCACAGGATTGTCTCAAAATGGATGCTGCCCGAAAAGTCCC
R
AGGAACATACTTGGAGAGAGCTAACTGCTTCCCGCCTCCCGTGTTCATCATCTCCATCAGCCTGGCCGAGCTGGCAGTGTTTATTTACTATGCTGTGTGG
Celera SNP ID:            hCV27837893
SNP Position Transcript:  301
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1176, 59, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:8885):
CAAACTGACCTGCCCCTATTGTAAGTCAATTAATAAAAAGAGCCATCTGGAGGAAATAAAAAAAAAAGGAAGACTCTATGAAGAAACAGAGAAGTCTCAG
M
AAAGGCTAACAATTTTATATAGAGGACAAAACAGCATTAAACTCATCAGTTGCAAAGATTGCCTATAAAAGGACCTTAGGATTTAAGGAAGGGGCTTCTT
Celera SNP ID:            hCV1976611
SNP Position Transcript:  1130
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|C,4)   total(A,2|C,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1176, None   



Gene Number:                 189
Celera Gene:                 hCG25509 - 209000105734216
Celera Transcript:           hCT16636 - 209000105734200
Public Transcript Accession: 
Celera Protein:              hCP42301 - 209000105734203
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W0QP(50373744..50385090)
Chromosome:                  Chr14
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:480):
CTCCATCCAGCTGCTTAGCCGCCTCTGGGAACCTCAAGGAAGCTCTCCTGCTGCCAAGATGCCATCACCACAGACAGACACTCCYGGGCCGGAGCTGCAG
AGTCCCAAGGAGGCTGAGGAGCCACAGACTCCAGCTCAGGGCTCCCGGCGAACAAGCAGCAGGAAAGAGCCCAATGCCCACCGCAAGGATGGCACAAGGC
TGGGCCTGGGCTCCCTGAGGCAGGCCTTCTCCCGGGCCAGCCAGCGGGCTTTGACCCAGGTCTCCAAGGAAGATAYGGGCCTGTTCYRGCGAAGCTCCTG
CTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGASGGCCCAGCTACCGGCCATTCCCAGGCSACTCCTGAGGTGCCCTCGGGGGTCATGAATGGTGTC
AGCCARCAGGCATCCACTGGGGCAGCGTCTGAGGAACTGAAACCCGAGGCAGGTGACTCTAAGGGAGGGCTCCTGGCAGCTGGGGCCTGTTGTTCCTGGA
GCAGGCCTTCAGCTGTGCTGGGGCATCTGGCAGAGGACAGACAATCCAGCCCCGATGGATTGAGCCGTGGCCTGCAGGTCTTCGTCCAGGTTCGGGTCTT
GGGGCGGTCCCTCTCACCGCCCTTCTCGCCCGCCTGTGCAGAAGGCAAATCCGTGGCCGACCTCATTACTGAACGGCAACTGCTGGCGGCCTTCGAACAG
CTTCTGCGCCTGGAGACGCTGCTGGTGGCCGAGAAGGCCTCGCGCACCTTTGAGCAGGACCCTACGGCCTTCGCGCGGCGCGCTATGGACGTGTGCCTGC
TTTACGACGGGCTGGCAGCCGAGATCGGCGCCATCGTGCGCGAGACGCTGGACAGCGACGGTGTGGACGCGGCCGCGCTGGCCGAGCTGGCCCGCGTGGT
GAGCGCGGAGGAGGARGCCCACCCTTCTCCCCCCGACGACGGCGACTTCCTGCGCACGCCGCGCCGCTGGCGCCAGCACTGGGAGGAGGCGGTGCGGCGA
AGCGCTCAGGAGCGCGTGCGGCGGCCGGGCGCGGGGTGGGCCTTCGGGGAGGCGGAGGGCGCGTCGGGTTTGGCCCAGCTTCTGGCCGAGCTGGGTGGCT
TGGTTCGCCGCGACCTGCAGAAGGTGCGGCAGGAGGTGCAGCCCGCGTATGCGGCGGCCGGCTTCCCAGCGTGGGAGGTCTATCTGCGTGCCTTCCACAG
CGCCGTGGCCCAGCGCCTCCAGGAGCTCGCGCGCGACGCCCGCGGCTGCGAGCAGCTCTATATCCTGCTGGACTGGGCCGCCAACGTCTACGGCAGTCCT
GACTTCCTGGGCGCCCCGGGGCTGGCGCTGCCCGCCGAGCCGCTGCCTCCGCTCCTGGCGCCGGACGTGTGGGCCCGACTGGAGAGCGACTACACCAGCT
TCCTGGAGGCCAAGATCGCAAGCTGCTTCGACAGCATCTTGCAGCTGGAGCAGAGTCACTGGGCGGCCGCCGAGGTCCCCGAGGTGCTGCAGGGCCTCTA
CCAGGCGCCGCTGTCCATGGACGTCCATATGCTCGTGGCCGAGCACGTGAAGGCGGCCGGCGCCATCTCCGCGGAGCTGGAGGCCACCACCCTGCGAATC
TGCACGCGGGCGCTCGGCCTCTTCGTGCCCAGGTTTGAAAAGGCTTTTCTGGCGTCGGAGGCGGTGAGCGAGCCGCACCTGGGCGCCTACATCAACGCCT
GCGAGGAGCTCAGGACCAGTCTTCTCTCCAGGTTCCCAGGAACCCAAGAGGAGCTGGAGAAGCCCCTGGTGACGGCCACCTGCAGCTTCCAGAAGCACTT
GCTTCAGGGCTTGCAGCGTGAGTTGCAGCCGCTCTTCAGGGTTGTGTGCACCAGGGACTGGCTGACGCAGGACTGGCTGCATCCCCTCATGGACAAGGTG
GTGACCTTCGCCGGTCATCTCCAGCGTGTGGCCCGGCCGCGGGCACAGGAGACTCTGCAGGAGGTGCACCGGTTCGTGGTCCGCGAGTACCTGGCGCGGG
CGCTGAGGCCACGGGAGCGGTTCCGGGGCATGGAGCGCATGCATGGCTCCCAGAAGATGAGCCTGGATGCCCAGGCCATCAGCGACACCTTCCAGGGCCT
GGGTTCCGAGGCCACATGGTTGGACCAAGCCATCCAGTGCGTGGCTGAGATCCTGGGCGAGACCTACAAAGATGACATCCAGCGGCACCTGGAGACTCTT
ATCCGGAGCTACCCCGACATCAGGCGGGACCACATACTGGCCATTCTGGCRCTGCGCCGACTGGGCCGCCRGCGGAACCAGCATCTCTTGCAGCACACYS
AAGACCTGCTGAGAGCTGCGGCCGGGRCGGCGGGTGCGGAGGCCCCTCGGGGCCGCGTGCTCTTCGAGGAGATCAAGGTGCCCAGTGCCATGGCTGTGCT
GATCACCTGCGTCTAG

Protein Sequence    (SEQ ID NO:1177):
MPSPQTDTPGPELQSPKEAEEPQTPAQGSRRTSSRKEPNAHRKDGTRLGLGSLRQAFSRASQRALTQVSKEDTGLFRRSSCSLFRSFRQALNDGPATGHS
QATPEVPSGVMNGVSQQASTGAASEELKPEAGDSKGGLLAAGACCSWSRPSAVLGHLAEDRQSSPDGLSRGLQVFVQVRVLGRSLSPPFSPACAEGKSVA
DLITERQLLAAFEQLLRLETLLVAEKASRTFEQDPTAFARRAMDVCLLYDGLAAEIGAIVRETLDSDGVDAAALAELARVVSAEEEAHPSPPDDGDFLRT
PRRWRQHWEEAVRRSAQERVRRPGAGWAFGEAEGASGLAQLLAELGGLVRRDLQKVRQEVQPAYAAAGFPAWEVYLRAFHSAVAQRLQELARDARGCEQL
YILLDWAANVYGSPDFLGAPGLALPAEPLPPLLAPDVWARLESDYTSFLEAKIASCFDSILQLEQSHWAAAEVPEVLQGLYQAPLSMDVHMLVAEHVKAA
GAISAELEATTLRICTRALGLFVPRFEKAFLASEAVSEPHLGAYINACEELRTSLLSRFPGTQEELEKPLVTATCSFQKHLLQGLQRELQPLFRVVCTRD
WLTQDWLHPLMDKVVTFAGHLQRVARPRAQETLQEVHRFVVREYLARALRPRERFRGMERMHGSQKMSLDAQAISDTFQGLGSEATWLDQAIQCVAEILG
ETYKDDIQRHLETLIRSYPDIRRDHILAILALRRLGRRRNQHLLQHTQDLLRAAAGAAGAEAPRGRVLFEEIKVPSAMAVLITCV


SNP Information

Context             (SEQ ID NO:8886):
GATGACATCCAGCGGCACCTGGAGACTCTTATCCGGAGCTACCCCGACATCAGGCGGGACCACATACTGGCCATTCTGGCGCTGCGCCGACTGGGCCGCC
R
GCGGAACCAGCATCTCTTGCAGCACACTCAAGACCTGCTGAGAGCTGCGGCCGGGGCGGCGGGTGCGGAGGCCCCTCGGGGCCGCGTGCTCTTCGAGGAG
Celera SNP ID:            hCV2206751
SNP Position Transcript:  2271
SNP Source:               Applera
Population(Allele,Count): african american(A,12|G,26)   caucasian(A,2|G,28)   total(A,14|G,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 738, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 738, (R,CGG)   (Q,CAG)      738, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:8887):
CCAAGGAAGATACGGGCCTGTTCCGGCGAAGCTCCTGCTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGACGGCCCAGCTACCGGCCATTCCCAGGC
S
ACTCCTGAGGTGCCCTCGGGGGTCATGAATGGTGTCAGCCAGCAGGCATCCACTGGGGCAGCGTCTGAGGAACTGAAACCCGAGGCAGGTGACTCTAAGG
Celera SNP ID:            hCV8901227
SNP Position Transcript:  364
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 102, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:8888):
TCCTGGGCGAGACCTACAAAGATGACATCCAGCGGCACCTGGAGACTCTTATCCGGAGCTACCCCGACATCAGGCGGGACCACATACTGGCCATTCTGGC
R
CTGCGCCGACTGGGCCGCCGGCGGAACCAGCATCTCTTGCAGCACACTCAAGACCTGCTGAGAGCTGCGGCCGGGGCGGCGGGTGCGGAGGCCCCTCGGG
Celera SNP ID:            hCV2206752
SNP Position Transcript:  2251
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,13)   caucasian(A,2|G,26)   total(A,7|G,39)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 731, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 731, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:8889):
GATGGCACAAGGCTGGGCCTGGGCTCCCTGAGGCAGGCCTTCTCCCGGGCCAGCCAGCGGGCTTTGACCCAGGTCTCCAAGGAAGATACGGGCCTGTTCC
R
GCGAAGCTCCTGCTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGACGGCCCAGCTACCGGCCATTCCCAGGCCACTCCTGAGGTGCCCTCGGGGGTC
Celera SNP ID:            hCV25609176
SNP Position Transcript:  288
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,24)   total(A,1|G,55)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 77, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:8890):
GCCCACCGCAAGGATGGCACAAGGCTGGGCCTGGGCTCCCTGAGGCAGGCCTTCTCCCGGGCCAGCCAGCGGGCTTTGACCCAGGTCTCCAAGGAAGATA
Y
GGGCCTGTTCCGGCGAAGCTCCTGCTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGACGGCCCAGCTACCGGCCATTCCCAGGCCACTCCTGAGGTG
Celera SNP ID:            hCV25609177
SNP Position Transcript:  276
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,36)   total(C,68|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 73, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:8891):
CAGCCGAGATCGGCGCCATCGTGCGCGAGACGCTGGACAGCGACGGTGTGGACGCGGCCGCGCTGGCCGAGCTGGCCCGCGTGGTGAGCGCGGAGGAGGA
R
GCCCACCCTTCTCCCCCCGACGACGGCGACTTCCTGCGCACGCCGCGCCGCTGGCGCCAGCACTGGGAGGAGGCGGTGCGGCGAAGCGCTCAGGAGCGCG
Celera SNP ID:            hCV2434898
SNP Position Transcript:  916
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,5)   total(G,2|A,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 286, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:8892):
TATCCGGAGCTACCCCGACATCAGGCGGGACCACATACTGGCCATTCTGGCGCTGCGCCGACTGGGCCGCCGGCGGAACCAGCATCTCTTGCAGCACACT
S
AAGACCTGCTGAGAGCTGCGGCCGGGGCGGCGGGTGCGGAGGCCCCTCGGGGCCGCGTGCTCTTCGAGGAGATCAAGGTGCCCAGTGCCATGGCTGTGCT
Celera SNP ID:            hCV2206749
SNP Position Transcript:  2300
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,24)   caucasian(C,15|G,1)   total(C,19|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 748, (Q,CAA)   (E,GAA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 748, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:8893):
GGACCACATACTGGCCATTCTGGCGCTGCGCCGACTGGGCCGCCGGCGGAACCAGCATCTCTTGCAGCACACTCAAGACCTGCTGAGAGCTGCGGCCGGG
R
CGGCGGGTGCGGAGGCCCCTCGGGGCCGCGTGCTCTTCGAGGAGATCAAGGTGCCCAGTGCCATGGCTGTGCTGATCACCTGCGTCTAG
Celera SNP ID:            hCV25760313
SNP Position Transcript:  2327
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,36)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 757, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:8894):
GGATGGCACAAGGCTGGGCCTGGGCTCCCTGAGGCAGGCCTTCTCCCGGGCCAGCCAGCGGGCTTTGACCCAGGTCTCCAAGGAAGATACGGGCCTGTTC
Y
GGCGAAGCTCCTGCTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGACGGCCCAGCTACCGGCCATTCCCAGGCCACTCCTGAGGTGCCCTCGGGGGT
Celera SNP ID:            hCV16185763
SNP Position Transcript:  287
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,27|T,9)   total(C,61|T,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 77, (R,CGG)   (W,TGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 77, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:8895):
CTCCATCCAGCTGCTTAGCCGCCTCTGGGAACCTCAAGGAAGCTCTCCTGCTGCCAAGATGCCATCACCACAGACAGACACTCC
Y
GGGCCGGAGCTGCAGAGTCCCAAGGAGGCTGAGGAGCCACAGACTCCAGCTCAGGGCTCCCGGCGAACAAGCAGCAGGAAAGAGCCCAATGCCCACCGCA
Celera SNP ID:            hCV16185764
SNP Position Transcript:  85
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,22)   caucasian(T,38)   total(C,4|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 9, (P,CCC)   (P,CCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 9, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:8896):
CCAGCCAGCGGGCTTTGACCCAGGTCTCCAAGGAAGATACGGGCCTGTTCCGGCGAAGCTCCTGCTCCCTGTTCCGGTCCTTCCGGCAAGCCCTGAATGA
S
GGCCCAGCTACCGGCCATTCCCAGGCCACTCCTGAGGTGCCCTCGGGGGTCATGAATGGTGTCAGCCAGCAGGCATCCACTGGGGCAGCGTCTGAGGAAC
Celera SNP ID:            hCV16185694
SNP Position Transcript:  337
SNP Source:               Applera
Population(Allele,Count): african american(C,26|G,8)   caucasian(C,25|G,7)   total(C,51|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 93, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,200|C,543)   total(G,200|C,543) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 93, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:8897):
TGTTCCGGTCCTTCCGGCAAGCCCTGAATGACGGCCCAGCTACCGGCCATTCCCAGGCCACTCCTGAGGTGCCCTCGGGGGTCATGAATGGTGTCAGCCA
R
CAGGCATCCACTGGGGCAGCGTCTGAGGAACTGAAACCCGAGGCAGGTGACTCTAAGGGAGGGCTCCTGGCAGCTGGGGCCTGTTGTTCCTGGAGCAGGC
Celera SNP ID:            hCV2434901
SNP Position Transcript:  406
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,24)   caucasian(A,2|G,26)   total(A,4|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 116, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,2)      total(G,2|A,1) ;no_pop(A,-|G,-)   JBIG-allele(A,272|G,455)   total(G,455|A,272)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1177, 116, (Q,CAA)   (Q,CAG)      116, (Q,CAG)   (Q,CAA)      



Context             (SEQ ID NO:8898):
TTATCCGGAGCTACCCCGACATCAGGCGGGACCACATACTGGCCATTCTGGCGCTGCGCCGACTGGGCCGCCGGCGGAACCAGCATCTCTTGCAGCACAC
Y
CAAGACCTGCTGAGAGCTGCGGCCGGGGCGGCGGGTGCGGAGGCCCCTCGGGGCCGCGTGCTCTTCGAGGAGATCAAGGTGCCCAGTGCCATGGCTGTGC
Celera SNP ID:            hCV2206750
SNP Position Transcript:  2299
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,5)   caucasian(C,1|T,15)   total(C,26|T,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 747, (T,ACC)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1177, 747, (T,ACT)   (T,ACC)      747, (T,ACC)   (T,ACT)      



Gene Number:                 190
Celera Gene:                 hCG25667 - 62000133463573
Celera Transcript:           hCT1958241 - 62000133463589
Public Transcript Accession: NM_000609
Celera Protein:              hCP1762509 - 197000069388980
Public Protein Accession:    NP_000600
Gene Symbol:                 CXCL12
Protein Name:                chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1);PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF-a;TLSF-b;TPAR1
Celera Genomic Axis:         GA_x5YUV32W1HM(2280308..2295250)
Chromosome:                  Chr10
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:481):
ACCGCCGCACTTTCACTCTCCGTCAGCCGCATTGCCCGCTCGGCGTCCGGCCCCCGACCCGCGCTCGTCCGCCCGCCCGCCCGCCCGCCCGCGCCATGAA
CGCCAAGGTCGTGGTCGTGCTGGTCCTCGTGCTGACCGCGCTCTGCCTCAGCGACGGGAAGCCCGTCAGCCTGAGCTACAGATGCCCATGCCGATTCTTC
GAAAGCCATGTTGCCAGAGCCAACGTCAAGCATCTCAAAATTCTCAACACTCCAAACTGTGCCCTTCAGATTGTAGCCCGGCTGAAGAACAACAACAGAC
AAGTGTGCATTGACCCGAAGCTAAAGTGGATTCAGGAGTACCTGGAGAAAGCTTTAAACAAGAGGTTCAAGATGTGAGAGGGTCAGACGCCTGAGGAACC
CTTACAGTAGGAGCCCAGCTCTGAAACCAGTGTTAGGGAAGGGCCTGCCACAGCCTCCCCTGCCAGGGCAGGGCCCCAGGCATTGCCAAGGGCTTTGTTT
TGCACACTTTGCCATATTTTCACCATTTGATTATGTAGCAAAATACATGACATTTATTTTTCATTTAGTTTGATTATTCAGTGTCACTGGCGACACGTAG
CAGCTTAGACTAAGGCCATTATTGTACTTGCCTTATTAGAGTGTCTTTCCACGGAGCCACTCCTCTGACTCAGGGCTCCTGGGTTTTGTATTCTCTGAGC
TGTGCAGGTGGGGAGACTGGGCTGAGGGAGCCTGGCCCCATGGTCAGCCCTAGGGTGGAGAGCCACCAAGAGGGACGCCTGGGGGTGCCAGGACCAGTCA
ACCTGGGCAAAGCCTAGTGAAGGCTTCTCTCTGTGGGATGGGATGGTGGAGGGCCACATGGGAGGCTCACCCCCTTCTCCATCCACATGGGAGCCRGGTC
TGCCTCTTCTGGGAGGGCAGCAGGGCTACCCTGAGCTGAGGCAGCAGTGTGAGGCCAGGGCAGAGTGAGACCCAGCCCTCATCCCGAGCACCTCCACATC
CTCCACGTTCTGCTCATCATTCTCTGTCTCATCCATCATCATGTGTGTCCACGACTGTCTCCATGGCCCYGCAAAAGGACTCTCAGGACCAAAGCTTTCA
TGTAAACTGTGCACCAAGCAGGAAATGAAAATGTCTTGTGTTACCTGAAAACACTGTGCACATCTGTGTCTTGTTTGGAATATTGTCCATTGTCCAATCC
TATGTTTTTGTTCAAAGCCAGCGTCCTCCTCTGTGACCAATGTCTTGATGCATGCACTGTTCCCCCTGTGCAGCCGCTGAGCGAGGAGATGCTCCTTGGG
CCCTTTGAGTGCAGTCCTGATCAGAGCCGTGGTCCTTTGGGGTGAACTACCTTGGTTCCCCCACTGATCACAAAAACATGGTGSGTCCATGGGCAGAGCC
CAAGGGAATTCGGTGTGCACCAGGGTTGACCCCAGAGGATTGCTGCCCCATCAGTGCTCCCTCACATGTCAGTACCTTCAAACTAGGGCCAAGCCCAGCA
CTGCTTGAGGAAAACAAGCATTCACAACTTGTTTTTGGTTTTTAAAACCCAGTCCACAAAATAACCAATCCTGGACATGAAGATTCTTTCCCAATTCACA
TCTAACCTCATCTTCTTCACCATTTGGCAATGCCATCATCTCCTGCCTTCCTCCTGGGCCCTCTCTGCTCTGCGTGTCACCTGTGCTTCGGGCCCTTCCC
ACAGGACATTTCTCTAAGAGAACAATGTGCTATGTGAAGAGTAAGTCAACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGC
TGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGCACTTGYGGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGA
TTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTA
TAGTGAYGTAATCTTGAATTGTAACTGTTCTTGAATTTAATAATCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAG
CTTCATGGCAGAAGGCAAACCCATCAACAAAAATTGTCCCTTAAACAAAAATTAAAATCCTCAATCCAGCTATGTTATATTGAAAAAATAGAGCCTGAGG
GATCTTTACTAGTTATAAAGATACAGAACTCTTTCAAAACCTTTTGAAATTAACCTCTCACTATACCAGTATAATTGAGTTTTCAGTGGGGCAGTCATTA
TCCAGGTAATCCAAGATATTTTAAAATCTGTCACGTAGAACTTGGATGTACCTGCCCCCAATCCATGAACCAAGACCATTGAATTCTTGGTTGAGGAAAC
AAACATGACCCTAAATCTTGACTACAGTCAGGAAAGGAATCATTTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTA
TTTGCATAACAATTCCTCTACTAAYAATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATGCATTTAAATACAGTCTTCCATTTGCAAGGGAAAA
TCTCTGAGCAGTGAAKGATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAA
GGCCRATTCCTATACGCRGYGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTA
TATGCACTTATAATTTTCCTAATAAAGTTCTGTACTCAAATGTA

Protein Sequence    (SEQ ID NO:1178):
PPHFHSPSAALPARRPAPDPRSSARPPARPRHERQGRGRAGPRADRALPQRREARQPELQMPMPILRKPCCQSQRQASQNSQHSKLCPSDCSPAEEQQQT
SVH


SNP Information

Context             (SEQ ID NO:8899):
TGAGCAGTGAATGATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCC
R
ATTCCTATACGCAGCGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGC
Celera SNP ID:            hCV12007796
SNP Position Transcript:  2705
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8900):
ACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGCTGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGCACTTG
Y
GGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGATTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAG
Celera SNP ID:            hCV12007799
SNP Position Transcript:  1849
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8901):
CAGTCAGGAAAGGAATCATTTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTATTTGCATAACAATTCCTCTACTAA
Y
AATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATGCATTTAAATACAGTCTTCCATTTGCAAGGGAAAATCTCTGAGCAGTGAATGATTCAGTG
Celera SNP ID:            hCV15833580
SNP Position Transcript:  2525
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   UK(T,7|C,393)   total(C,393|T,7)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8902):
ACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTATAGTGA
Y
GTAATCTTGAATTGTAACTGTTCTTGAATTTAATAATCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAGCTTCATG
Celera SNP ID:            hCV7550610
SNP Position Transcript:  2007
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,11)      total(C,2|T,11) ;no_pop(T,-|C,-)   UK(C,8|T,392)   total(C,8|T,392) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8903):
ATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACGC
R
GCGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGCACTTATAATTTTC
Celera SNP ID:            hCV7550603
SNP Position Transcript:  2718
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8904):
CTCTACTAACAATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATGCATTTAAATACAGTCTTCCATTTGCAAGGGAAAATCTCTGAGCAGTGAA
K
GATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACG
Celera SNP ID:            hCV7550604
SNP Position Transcript:  2616
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8905):
AGGAGATGCTCCTTGGGCCCTTTGAGTGCAGTCCTGATCAGAGCCGTGGTCCTTTGGGGTGAACTACCTTGGTTCCCCCACTGATCACAAAAACATGGTG
S
GTCCATGGGCAGAGCCCAAGGGAATTCGGTGTGCACCAGGGTTGACCCCAGAGGATTGCTGCCCCATCAGTGCTCCCTCACATGTCAGTACCTTCAAACT
Celera SNP ID:            hCV3223114
SNP Position Transcript:  1384
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,15)      total(G,15|C,1) ;no_pop(G,-|C,-)   JBIC-allele(C,207|G,1292)   total(G,1292|C,207) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8906):
TCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACGCAG
Y
GTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGCACTTATAATTTTCCT
Celera SNP ID:            hCV12007795
SNP Position Transcript:  2720
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8907):
ACCCAGCCCTCATCCCGAGCACCTCCACATCCTCCACGTTCTGCTCATCATTCTCTGTCTCATCCATCATCATGTGTGTCCACGACTGTCTCCATGGCCC
Y
GCAAAAGGACTCTCAGGACCAAAGCTTTCATGTAAACTGTGCACCAAGCAGGAAATGAAAATGTCTTGTGTTACCTGAAAACACTGTGCACATCTGTGTC
Celera SNP ID:            hCV1033718
SNP Position Transcript:  1070
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Context             (SEQ ID NO:8908):
AGTCAACCTGGGCAAAGCCTAGTGAAGGCTTCTCTCTGTGGGATGGGATGGTGGAGGGCCACATGGGAGGCTCACCCCCTTCTCCATCCACATGGGAGCC
R
GGTCTGCCTCTTCTGGGAGGGCAGCAGGGCTACCCTGAGCTGAGGCAGCAGTGTGAGGCCAGGGCAGAGTGAGACCCAGCCCTCATCCCGAGCACCTCCA
Celera SNP ID:            hCV3223115
SNP Position Transcript:  896
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,3|G,6)      total(G,6|A,3) ;Asian AI|S patients(G,-|A,-)   African American AI|S patients(A,446|G,1271)   Hispanic AI|S patients(G,-|A,-)   Caucasians AI|S patients(G,-|A,-)      total(G,1271|A,446);no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1178, None   



Gene Number:                 190
Celera Gene:                 hCG25667 - 62000133463573
Celera Transcript:           hCT2293941 - 62000133463598
Public Transcript Accession: NM_000609
Celera Protein:              hCP1865847 - 197000069388981
Public Protein Accession:    NP_000600
Gene Symbol:                 CXCL12
Protein Name:                chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1);PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF-a;TLSF-b;TPAR1
Celera Genomic Axis:         GA_x5YUV32W1HM(2281282..2295250)
Chromosome:                  Chr10
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:482):
ACCGCCGCACTTTCACTCTCCGTCAGCCGCATTGCCCGCTCGGCGTCCGGCCCCCGACCCGCGCTCGTCCGCCCGCCCGCCCGCCCGCCCGCGCCATGAA
CGCCAAGGTCGTGGTCGTGCTGGTCCTCGTGCTGACCGCGCTCTGCCTCAGCGACGGGAAGCCCGTCAGCCTGAGCTACAGATGCCCATGCCGATTCTTC
GAAAGCCATGTTGCCAGAGCCAACGTCAAGCATCTCAAAATTCTCAACACTCCAAACTGTGCCCTTCAGATTGTAGCCCGGCTGAAGAACAACAACAGAC
AAGTGTGCATTGACCCGAAGCTAAAGTGGATTCAGGAGTACCTGGAGAAAGCTTTAAACAAGACATTTCTCTAAGAGAACAATGTGCTATGTGAAGAGTA
AGTCAACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGCTGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGC
ACTTGYGGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGATTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAA
AACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTATAGTGAYGTAATCTTGAATTGTAACTGTTCTTGAATTTAATAA
TCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAGCTTCATGGCAGAAGGCAAACCCATCAACAAAAATTGTCCCTTA
AACAAAAATTAAAATCCTCAATCCAGCTATGTTATATTGAAAAAATAGAGCCTGAGGGATCTTTACTAGTTATAAAGATACAGAACTCTTTCAAAACCTT
TTGAAATTAACCTCTCACTATACCAGTATAATTGAGTTTTCAGTGGGGCAGTCATTATCCAGGTAATCCAAGATATTTTAAAATCTGTCACGTAGAACTT
GGATGTACCTGCCCCCAATCCATGAACCAAGACCATTGAATTCTTGGTTGAGGAAACAAACATGACCCTAAATCTTGACTACAGTCAGGAAAGGAATCAT
TTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTATTTGCATAACAATTCCTCTACTAAYAATCAGCTCCTTCCTGGA
GACTGCCCAGCTAAAGCAATATG

Protein Sequence    (SEQ ID NO:1179):
PPHFHSPSAALPARRPAPDPRSSARPPARPRHERQGRGRAGPRADRALPQRREARQPELQMPMPILRKPCCQSQRQASQNSQHSKLCPSDCSPAEEQQQT
SVH


SNP Information

Context             (SEQ ID NO:8909):
ACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTATAGTGA
Y
GTAATCTTGAATTGTAACTGTTCTTGAATTTAATAATCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAGCTTCATG
Celera SNP ID:            hCV7550610
SNP Position Transcript:  664
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,11)      total(C,2|T,11) ;no_pop(T,-|C,-)   UK(C,8|T,392)   total(C,8|T,392) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1179, None   



Context             (SEQ ID NO:8910):
ACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGCTGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGCACTTG
Y
GGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGATTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAG
Celera SNP ID:            hCV12007799
SNP Position Transcript:  506
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1179, None   



Context             (SEQ ID NO:8911):
CAGTCAGGAAAGGAATCATTTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTATTTGCATAACAATTCCTCTACTAA
Y
AATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATG
Celera SNP ID:            hCV15833580
SNP Position Transcript:  1182
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   UK(T,7|C,393)   total(C,393|T,7)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1179, None   



Gene Number:                 190
Celera Gene:                 hCG25667 - 62000133463573
Celera Transcript:           hCT1958240 - 62000133463582
Public Transcript Accession: NM_000609
Celera Protein:              hCP1762508 - 197000069388979
Public Protein Accession:    NP_000600
Gene Symbol:                 CXCL12
Protein Name:                chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1);PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF-a;TLSF-b;TPAR1
Celera Genomic Axis:         GA_x5YUV32W1HM(2286150..2295250)
Chromosome:                  Chr10
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:483):
ACCGCCGCACTTTCACTCTCCGTCAGCCGCATTGCCCGCTCGGCGTCCGGCCCCCGACCCGCGCTCGTCCGCCCGCCCGCCCGCCCGCCCGCGCCATGAA
CGCCAAGGTCGTGGTCGTGCTGGTCCTCGTGCTGACCGCGCTCTGCCTCAGCGACGGGAAGCCCGTCAGCCTGAGCTACAGATGCCCATGCCGATTCTTC
GAAAGCCATGTTGCCAGAGCCAACGTCAAGCATCTCAAAATTCTCAACACTCCAAACTGTGCCCTTCAGATTGTAGCCCGGCTGAAGAACAACAACAGAC
AAGTGTGCATTGACCCGAAGCTAAAGTGGATTCAGGAGTACCTGGAGAAAGCTTTAAACAAGTAAGCACAACAGCCAAAAAGGACTTTCCGCTAGACCCA
CTCGAGGAAAACTAAAACCTTGTGAGAGATGAAAGGGCAAAGACGTGGGGGAGGGGGCCTTAACCATGAGGACCAGGTGTGTGTGTGGGGTGGGCACATT
GATCTGGGATCGGGCCTGAGGTTTGCCAGCATTTAGACCCTGCATTTATAGCATACGGTATGATATTGCAGCTTATATTCATCCATGCCCTGTACCYGTG
CACGTTGGAACTTTTATTACTGGGGTTTTTCTAAGAAAGAAATTGTATTATCAACAGCATTTTCAAGCAGTTAGTTCCTTCATGATCATCACAATCATCA
TCATTCTCATTCTCATTTTTTAAATCAACGAGTACTTCAAGATCTGAATTTGGCTTGTTTGGAGCATCTCCTCTGCTCCCCTGGGGAGTCTGGGCACAGT
CAGGTGGTGGCTTAACAGGGAGCTGGAAAAAGTGTCCTTTCTTCAGACACTGAGGCTCCCGCAGCAGCGCCCCTCCCAAGAGGAAGGCCTCTGTGGCACT
CAGATACCGACTGGGGCTGGGCGCCGCCACTGCCTTCACCTCCTCTTTCAACCTCAGTGATTGGCTCTGTGGGCTCCATGTAGAAGCCACTATTACTGGG
ACTGTGCTCAGAGACCCCTCTCCCAGCTATTCCTACTCTCTCCCCGACTCCGAGAGCATGCTTAATCTTGCTTCTGCTTCTCATTTCTGTAGCCTGATCA
GCGCCGCACCAGCCGGGAAGAGGGTGATTGCTGGGGCTCGTGCCCTGCATCCCTCTCCTCCCAGGGCCTGCCCCACAGCTCGGGCCCTCTGTGAGATCCG
TCTWTGGCCTCCTCCAGAATGGAGCTGGCCCTCTCCTGGGGATGTGTAATGGTCCCCCTGCTTACCCGCAAAAGACAAGTCTTTACAGAATCAAATGCAA
TTTTAAATCTGAGAGCTCGCTTTGAGTGACTGGGTTTTGTGATTGCCTCTGAAGCCTATGTATGCCATGGAGGCACTAACAAACTCTGAGGTTTCCGAAA
TCAGAAGCGAAAAAATCAGTGAATAAACCATCATCTTGCCACTACCCCCTCCTGAAGCCACAGCAGGGTTTCAGGTTCCAATCAGAACTGTTGGCAAGGT
GACATTTCCATGCATAAATGCGATCCACAGARGGTCCTGGTGGTATTTGTAACTTTTTGCAAGGCATTTTTTTATATATATTTTTGTGCACATTTTTTTT
TACGTTTCTTTAGAAAACAAATGTATTTCAAAATATATTTATAGTCGAACAATTCATATATTTGAAGTGGAGCCATATGAATGTCAGTAGTTTATACTTC
TCTATTATCTCAAACTACTGGCAATTTGTAAAGAAATATATATGATATATAAATGTGATTGCAGCTTTTCAATGTTAGCCACAGTGTATTTTTTCACTTG
TACTAAAATTGTATCAAATGTGACATTATATGCACTAGCAATAAAATGCTAATTGTTTCATGGTATAAACGTCCTACTGTATGTGGGAATTTATTTACCT
GAAATAAAATTCATTAGTTGTTAGTGATGGAGCTTATAGACGTTTCTGGTTTATATAGTTAAGCCTGCCTGCAGTCAGGTGTCTGAGACCCCTTCTCACA
GCCCATGTGTGACAGTGTATGGGCTTTTCTCACGAGCAGATTAGATCTGCAGCTCAAGTTTTTGGATCTTTTTTTTTTTTTTTTAACCCGATTGAAATAG
CAGTGCTGGTTTTCTGAAGAATAATATTTGACTCACTAATTCGTCTTCCCTCCCTCCTCCTCCTTGGTTCTCCTAACTTCCCCATGTAATCCCCAGAGAC
TCAACCCTAGTAATATCAACCTTTTACATTTTCCCATGTAAAAATCCCATGACTCCAGGCCATGGTTAATATGAAGCTTTCACAGGGACAGGTGGCCTCA
CCCCATAAATCATTAAATACCATTCAGCTTGAATCATTTTAATGTGACAGTCACGAGCCAGTTGCTCTAATAAAATTCTGCTAACCAGCTCTCTCCCTTG
CTCTCCAGAACAATCGCATTCATTCCCAGGAGTGTTCACAGGCGTCTAGAAAGGGGAAGGTGGGACCACTGCCTTTTTTCTCCTCTTCTGAATGGCAGTC
TGAACCTGGGGCCTGCAGCCTCCAAAACGTTATTCAATTTGAAATGCAGACATTTCTTAGAGAAAGCTAAGAGTTCAGCCCTGCATTGAGAAGAAGAAAA
AGTCCCATGAGARCAGGGCAGGGTGGGGTGACAAGGACCACGATGGCCAGCCTGGCCCTGGGTGTACCCTGAGATGTGGATTCCTTGTCCCCAGTGGGAA
TCRGGTTCAGGTTGGCAGATTGGCAGTCGCTGTAACCCATTCACAAAGGTGTTCTAGGAGCCCATTGAACATTTGTTTGAATGGAAGGAAATGTCCAATT
TATTTTAATGAATTACTGATAAACAGTGCTTTGACCAGGGGCCTCCAGGCCTGAGACTGAAGGCACAGTTTAACCAGTACACGGGCCAGTGTTAAATYTT
ATGCAGACTGAGACGAACTTTTGTTTATTTCCACATTATTAATGGTWCTACTAATTTTATCTAAGGGGGCGCAGAGAAGAAAAAGTGGGGAAAAAA

Protein Sequence    (SEQ ID NO:1180):
MNAKVVVVLVLVLTALCLSDGKPVSLSYRCPCRFFESHVARANVKHLKILNTPNCALQIVARLKNNNRQVCIDPKLKWIQEYLEKALNK


SNP Information

Context             (SEQ ID NO:8912):
TCCCATGAGAGCAGGGCAGGGTGGGGTGACAAGGACCACGATGGCCAGCCTGGCCCTGGGTGTACCCTGAGATGTGGATTCCTTGTCCCCAGTGGGAATC
R
GGTTCAGGTTGGCAGATTGGCAGTCGCTGTAACCCATTCACAAAGGTGTTCTAGGAGCCCATTGAACATTTGTTTGAATGGAAGGAAATGTCCAATTTAT
Celera SNP ID:            hCV16187084
SNP Position Transcript:  2703
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,130|A,1369)   total(G,130|A,1369) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8913):
CATTGATCTGGGATCGGGCCTGAGGTTTGCCAGCATTTAGACCCTGCATTTATAGCATACGGTATGATATTGCAGCTTATATTCATCCATGCCCTGTACC
Y
GTGCACGTTGGAACTTTTATTACTGGGGTTTTTCTAAGAAAGAAATTGTATTATCAACAGCATTTTCAAGCAGTTAGTTCCTTCATGATCATCACAATCA
Celera SNP ID:            hCV2086912
SNP Position Transcript:  597
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,5)      total(C,1|T,5) ;UK(C,65|T,335)   total(C,65|T,335)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8914):
CTGCAGCCTCCAAAACGTTATTCAATTTGAAATGCAGACATTTCTTAGAGAAAGCTAAGAGTTCAGCCCTGCATTGAGAAGAAGAAAAAGTCCCATGAGA
R
CAGGGCAGGGTGGGGTGACAAGGACCACGATGGCCAGCCTGGCCCTGGGTGTACCCTGAGATGTGGATTCCTTGTCCCCAGTGGGAATCAGGTTCAGGTT
Celera SNP ID:            hCV1033723
SNP Position Transcript:  2613
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8915):
AGGCCTGAGACTGAAGGCACAGTTTAACCAGTACACGGGCCAGTGTTAAATCTTATGCAGACTGAGACGAACTTTTGTTTATTTCCACATTATTAATGGT
W
CTACTAATTTTATCTAAGGGGGCGCAGAGAAGAAAAAGTGGGGAAAAAA
Celera SNP ID:            hCV7550622
SNP Position Transcript:  2947
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8916):
ATTTATTTTAATGAATTACTGATAAACAGTGCTTTGACCAGGGGCCTCCAGGCCTGAGACTGAAGGCACAGTTTAACCAGTACACGGGCCAGTGTTAAAT
Y
TTATGCAGACTGAGACGAACTTTTGTTTATTTCCACATTATTAATGGTTCTACTAATTTTATCTAAGGGGGCGCAGAGAAGAAAAAGTGGGGAAAAAA
Celera SNP ID:            hCV3223122
SNP Position Transcript:  2898
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,9)      total(C,9|T,2) ;JBIC-allele(T,188|C,1293)   total(C,1293|T,188)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8917):
CCGCACCAGCCGGGAAGAGGGTGATTGCTGGGGCTCGTGCCCTGCATCCCTCTCCTCCCAGGGCCTGCCCCACAGCTCGGGCCCTCTGTGAGATCCGTCT
W
TGGCCTCCTCCAGAATGGAGCTGGCCCTCTCCTGGGGATGTGTAATGGTCCCCCTGCTTACCCGCAAAAGACAAGTCTTTACAGAATCAAATGCAATTTT
Celera SNP ID:            hCV7550630
SNP Position Transcript:  1204
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Context             (SEQ ID NO:8918):
CATCTTGCCACTACCCCCTCCTGAAGCCACAGCAGGGTTTCAGGTTCCAATCAGAACTGTTGGCAAGGTGACATTTCCATGCATAAATGCGATCCACAGA
R
GGTCCTGGTGGTATTTGTAACTTTTTGCAAGGCATTTTTTTATATATATTTTTGTGCACATTTTTTTTTACGTTTCTTTAGAAAACAAATGTATTTCAAA
Celera SNP ID:            hCV7550623
SNP Position Transcript:  1532
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1180, None   



Gene Number:                 190
Celera Gene:                 hCG25667 - 62000133463573
Celera Transcript:           hCT16792 - 62000133463574
Public Transcript Accession: NM_000609
Celera Protein:              hCP42343 - 197000069388978
Public Protein Accession:    NP_000600
Gene Symbol:                 CXCL12
Protein Name:                chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1);PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF-a;TLSF-b;TPAR1
Celera Genomic Axis:         GA_x5YUV32W1HM(2280298..2295250)
Chromosome:                  Chr10
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:484):
ACCGCCGCACTTTCACTCTCCGTCAGCCGCATTGCCCGCTCGGCGTCCGGCCCCCGACCCGCGCTCGTCCGCCCGCCCGCCCGCCCGCCCGCGCCATGAA
CGCCAAGGTCGTGGTCGTGCTGGTCCTCGTGCTGACCGCGCTCTGCCTCAGCGACGGGAAGCCCGTCAGCCTGAGCTACAGATGCCCATGCCGATTCTTC
GAAAGCCATGTTGCCAGAGCCAACGTCAAGCATCTCAAAATTCTCAACACTCCAAACTGTGCCCTTCAGATTGTAGCCCGGCTGAAGAACAACAACAGAC
AAGTGTGCATTGACCCGAAGCTAAAGTGGATTCAGGAGTACCTGGAGAAAGCTTTAAACAAGAGGTTCAAGATGTGAGAGGGTCAGACGCCTGAGGAACC
CTTACAGTAGGAGCCCAGCTCTGAAACCAGTGTTAGGGAAGGGCCTGCCACAGCCTCCCCTGCCAGGGCAGGGCCCCAGGCATTGCCAAGGGCTTTGTTT
TGCACACTTTGCCATATTTTCACCATTTGATTATGTAGCAAAATACATGACATTTATTTTTCATTTAGTTTGATTATTCAGTGTCACTGGCGACACGTAG
CAGCTTAGACTAAGGCCATTATTGTACTTGCCTTATTAGAGTGTCTTTCCACGGAGCCACTCCTCTGACTCAGGGCTCCTGGGTTTTGTATTCTCTGAGC
TGTGCAGGTGGGGAGACTGGGCTGAGGGAGCCTGGCCCCATGGTCAGCCCTAGGGTGGAGAGCCACCAAGAGGGACGCCTGGGGGTGCCAGGACCAGTCA
ACCTGGGCAAAGCCTAGTGAAGGCTTCTCTCTGTGGGATGGGATGGTGGAGGGCCACATGGGAGGCTCACCCCCTTCTCCATCCACATGGGAGCCRGGTC
TGCCTCTTCTGGGAGGGCAGCAGGGCTACCCTGAGCTGAGGCAGCAGTGTGAGGCCAGGGCAGAGTGAGACCCAGCCCTCATCCCGAGCACCTCCACATC
CTCCACGTTCTGCTCATCATTCTCTGTCTCATCCATCATCATGTGTGTCCACGACTGTCTCCATGGCCCYGCAAAAGGACTCTCAGGACCAAAGCTTTCA
TGTAAACTGTGCACCAAGCAGGAAATGAAAATGTCTTGTGTTACCTGAAAACACTGTGCACATCTGTGTCTTGTTTGGAATATTGTCCATTGTCCAATCC
TATGTTTTTGTTCAAAGCCAGCGTCCTCCTCTGTGACCAATGTCTTGATGCATGCACTGTTCCCCCTGTGCAGCCGCTGAGCGAGGAGATGCTCCTTGGG
CCCTTTGAGTGCAGTCCTGATCAGAGCCGTGGTCCTTTGGGGTGAACTACCTTGGTTCCCCCACTGATCACAAAAACATGGTGSGTCCATGGGCAGAGCC
CAAGGGAATTCGGTGTGCACCAGGGTTGACCCCAGAGGATTGCTGCCCCATCAGTGCTCCCTCACATGTCAGTACCTTCAAACTAGGGCCAAGCCCAGCA
CTGCTTGAGGAAAACAAGCATTCACAACTTGTTTTTGGTTTTTAAAACCCAGTCCACAAAATAACCAATCCTGGACATGAAGATTCTTTCCCAATTCACA
TCTAACCTCATCTTCTTCACCATTTGGCAATGCCATCATCTCCTGCCTTCCTCCTGGGCCCTCTCTGCTCTGCGTGTCACCTGTGCTTCGGGCCCTTCCC
ACAGGACATTTCTCTAAGAGAACAATGTGCTATGTGAAGAGTAAGTCAACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGC
TGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGCACTTGYGGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGA
TTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTA
TAGTGAYGTAATCTTGAATTGTAACTGTTCTTGAATTTAATAATCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAG
CTTCATGGCAGAAGGCAAACCCATCAACAAAAATTGTCCCTTAAACAAAAATTAAAATCCTCAATCCAGCTATGTTATATTGAAAAAATAGAGCCTGAGG
GATCTTTACTAGTTATAAAGATACAGAACTCTTTCAAAACCTTTTGAAATTAACCTCTCACTATACCAGTATAATTGAGTTTTCAGTGGGGCAGTCATTA
TCCAGGTAATCCAAGATATTTTAAAATCTGTCACGTAGAACTTGGATGTACCTGCCCCCAATCCATGAACCAAGACCATTGAATTCTTGGTTGAGGAAAC
AAACATGACCCTAAATCTTGACTACAGTCAGGAAAGGAATCATTTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTA
TTTGCATAACAATTCCTCTACTAAYAATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATGCATTTAAATACAGTCTTCCATTTGCAAGGGAAAA
GTCTCTTGTAATCCGAATCTCTTTTTGCTTTCGAACTGCTAGTCAAGTGCGTCCACGAGCTGTTTACTAGGGATCCCTCATCTGTCCCTCCGGGACCTGG
TGCTGCCTCTACCTGACACTCCCTTGGGCTCCCTGTAACCTCTTCAGAGGCCCTCGCTGCCAGCTCTGTATCAGGACCCAGAGGAAGGGGCCAGAGGCTC
GTTGACTGGCTGTGTGTTGGGATTGAGTCTGTGCCACGTGTTTGTGCTGTGGTGTGTCCCCCTCTGTCCAGGCACTGWGATACCAGCGAGGAGGCTCCAG
AGGGCACTCTGCTTGTTATTAGAGATTACCTCCTGAGAAAAAAGSTTCCGCTTGGAGCAGAGGGGCTGAATAGCAGAAGGTTGCACCTCCCCCAACCTTA
GATGTTCTAAGTCTTTCCATTGGATCTCATTGGACCCTTCCATGGTGTGATCGTCTGACTGGTGTTATCACCGTGGGCTCCCTGACTGGGAGTTGATCGC
CTTTCCCAGGTGCTACACCCTTTTCCAGCTGGATGAGAATTTGAGTGCTCTGATCCCTCTACAGAGCTTCCCTGACYCATTCTGAAGGAGCCCCATTCCT
GGGAAATATTCCCTAGAAACTTCCAAATCCCCTAAGCAGACCACTGATAAAACCATGTAGAAAATTTGTTATTTTGCAACCTCGCTGGACTCTCAGTCTC
TGAGCAGTGAAKGATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCC
RATTCCTATACGCRGYGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATG
CACTTATAATTTTCCTAATAAAGTTCTGTACTCAAATGTAGCCACCAACA

Protein Sequence    (SEQ ID NO:1181):
PPHFHSPSAALPARRPAPDPRSSARPPARPRHERQGRGRAGPRADRALPQRREARQPELQMPMPILRKPCCQSQRQASQNSQHSKLCPSDCSPAEEQQQT
SVH


SNP Information

Context             (SEQ ID NO:8919):
TGAGCAGTGAATGATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCC
R
ATTCCTATACGCAGCGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGC
Celera SNP ID:            hCV12007796
SNP Position Transcript:  3401
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8920):
ACCTGCCTGACATTTGGAGTGTTCCCCTTCCACTGAGGGCAGTCGATAGAGCTGTATTAAGCCACTTAAAATGTTCACTTTTGACAAAGGCAAGCACTTG
Y
GGGTTTTTGTTTTGTTTTTCATTCAGTCTTACGAATACTTTTGCCCTTTGATTAAAGACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAG
Celera SNP ID:            hCV12007799
SNP Position Transcript:  1849
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8921):
CAGTCAGGAAAGGAATCATTTCTATTTCTCCTCCATGGGAGAAAATAGATAAGAGTAGAAACTGCAGGGAAAATTATTTGCATAACAATTCCTCTACTAA
Y
AATCAGCTCCTTCCTGGAGACTGCCCAGCTAAAGCAATATGCATTTAAATACAGTCTTCCATTTGCAAGGGAAAAGTCTCTTGTAATCCGAATCTCTTTT
Celera SNP ID:            hCV15833580
SNP Position Transcript:  2525
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   UK(T,7|C,393)   total(C,393|T,7)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8922):
ACTCCAGTTAAAAAAAATTTTAATGAAGAAAGTGGAAAACAAGGAAGTCAAAGCAAGGAAACTATGTAACATGTAGGAAGTAGGAAGTAAATTATAGTGA
Y
GTAATCTTGAATTGTAACTGTTCTTGAATTTAATAATCTGTAGGGTAATTAGTAACATGTGTTAAGTATTTTCATAAGTATTTCAAATTGGAGCTTCATG
Celera SNP ID:            hCV7550610
SNP Position Transcript:  2007
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,11)      total(C,2|T,11) ;no_pop(T,-|C,-)   UK(C,8|T,392)   total(C,8|T,392) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8923):
ATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACGC
R
GCGTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGCACTTATAATTTTC
Celera SNP ID:            hCV7550603
SNP Position Transcript:  3414
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8924):
CCTAGAAACTTCCAAATCCCCTAAGCAGACCACTGATAAAACCATGTAGAAAATTTGTTATTTTGCAACCTCGCTGGACTCTCAGTCTCTGAGCAGTGAA
K
GATTCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACG
Celera SNP ID:            hCV7550604
SNP Position Transcript:  3312
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8925):
TGCTGTGGTGTGTCCCCCTCTGTCCAGGCACTGAGATACCAGCGAGGAGGCTCCAGAGGGCACTCTGCTTGTTATTAGAGATTACCTCCTGAGAAAAAAG
S
TTCCGCTTGGAGCAGAGGGGCTGAATAGCAGAAGGTTGCACCTCCCCCAACCTTAGATGTTCTAAGTCTTTCCATTGGATCTCATTGGACCCTTCCATGG
Celera SNP ID:            hCV1033715
SNP Position Transcript:  2945
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8926):
CCAGAGGAAGGGGCCAGAGGCTCGTTGACTGGCTGTGTGTTGGGATTGAGTCTGTGCCACGTGTTTGTGCTGTGGTGTGTCCCCCTCTGTCCAGGCACTG
W
GATACCAGCGAGGAGGCTCCAGAGGGCACTCTGCTTGTTATTAGAGATTACCTCCTGAGAAAAAAGCTTCCGCTTGGAGCAGAGGGGCTGAATAGCAGAA
Celera SNP ID:            hCV1033716
SNP Position Transcript:  2878
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8927):
GCTCCCTGACTGGGAGTTGATCGCCTTTCCCAGGTGCTACACCCTTTTCCAGCTGGATGAGAATTTGAGTGCTCTGATCCCTCTACAGAGCTTCCCTGAC
Y
CATTCTGAAGGAGCCCCATTCCTGGGAAATATTCCCTAGAAACTTCCAAATCCCCTAAGCAGACCACTGATAAAACCATGTAGAAAATTTGTTATTTTGC
Celera SNP ID:            hCV7550605
SNP Position Transcript:  3177
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8928):
AGGAGATGCTCCTTGGGCCCTTTGAGTGCAGTCCTGATCAGAGCCGTGGTCCTTTGGGGTGAACTACCTTGGTTCCCCCACTGATCACAAAAACATGGTG
S
GTCCATGGGCAGAGCCCAAGGGAATTCGGTGTGCACCAGGGTTGACCCCAGAGGATTGCTGCCCCATCAGTGCTCCCTCACATGTCAGTACCTTCAAACT
Celera SNP ID:            hCV3223114
SNP Position Transcript:  1384
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,15)      total(G,15|C,1) ;no_pop(G,-|C,-)   JBIC-allele(C,207|G,1292)   total(G,1292|C,207) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8929):
TCAGTGTTAAATGTGATGAATACTGTATTTTGTATTGTTTCAATTGCATCTCCCAGATAATGTGAAAATGGTCCAGGAGAAGGCCAATTCCTATACGCAG
Y
GTGCTTTAAAAAATAAATAAGAAACAACTCTTTGAGAAACAACAATTTCTACTTTGAAGTCATACCAATGAAAAAATGTATATGCACTTATAATTTTCCT
Celera SNP ID:            hCV12007795
SNP Position Transcript:  3416
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8930):
ACCCAGCCCTCATCCCGAGCACCTCCACATCCTCCACGTTCTGCTCATCATTCTCTGTCTCATCCATCATCATGTGTGTCCACGACTGTCTCCATGGCCC
Y
GCAAAAGGACTCTCAGGACCAAAGCTTTCATGTAAACTGTGCACCAAGCAGGAAATGAAAATGTCTTGTGTTACCTGAAAACACTGTGCACATCTGTGTC
Celera SNP ID:            hCV1033718
SNP Position Transcript:  1070
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Context             (SEQ ID NO:8931):
AGTCAACCTGGGCAAAGCCTAGTGAAGGCTTCTCTCTGTGGGATGGGATGGTGGAGGGCCACATGGGAGGCTCACCCCCTTCTCCATCCACATGGGAGCC
R
GGTCTGCCTCTTCTGGGAGGGCAGCAGGGCTACCCTGAGCTGAGGCAGCAGTGTGAGGCCAGGGCAGAGTGAGACCCAGCCCTCATCCCGAGCACCTCCA
Celera SNP ID:            hCV3223115
SNP Position Transcript:  896
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,3|G,6)      total(G,6|A,3) ;Asian AI|S patients(G,-|A,-)   African American AI|S patients(A,446|G,1271)   Hispanic AI|S patients(G,-|A,-)   Caucasians AI|S patients(G,-|A,-)      total(G,1271|A,446);no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1181, None   



Gene Number:                 191
Celera Gene:                 hCG26008 - 30000035920872
Celera Transcript:           hCT17136 - 30000035920946
Public Transcript Accession: NM_003587
Celera Protein:              hCP42563 - 197000069367071
Public Protein Accession:    NP_003578
Gene Symbol:                 DHX16
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 16;DBP2;DDX16;PRP8
Celera Genomic Axis:         GA_x5YUV32W6W6(3682854..3703241)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:485):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGACYTGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCTSTG
ACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGTCGCCATGGCGACGCCGGCGGGTCTGGAGCGCTGGGTTCA
GGACGAGCTGCACTCGGTGTTGGGGCTGAGCGAGCGGCACGTCGCCCAGTTTCTGATCGGTACCGCACAGCGCTGCACCTCTGCCGAGGAGTTCGTGCAG
CGCCTRCGAGACACTGATACCTTGGATCTCAGTGGGCCGGCCCGGGACTTCGCCCTGAGACTCTGGAACAAGGTACCACGAAAGGCAGTGGTAGAAAAGC
CAGCTCGGGCAGCAGAGCGAGAGGCCCGGGCCCTGCTGGAGAAGAACCGATCTTATAGGTTACTGGAAGACAGTGAAGAGAGCAGTGAGGAGACTGTGAG
TAGGGCTGGAAGCAGCCTCCAGAAGAAACGTAAAAAGCGGAAACACCTCAGGAAGAAGCGTGAGGAAGAAGAGGAGGAAGAGGCTTCTGAGAAAGGGAAG
AAGAAAACAGGGGGGAGTAAACAGCAGACAGAGAAGCCAGAGTCGGAAGATGAGTGGGAACGGACAGAGCGTGAACGCCTTCAGGACCTGGAGGAGCGTG
ATGCCTTTGCTGAGCGGGTTCGACAGCGGGACAAGGATCGGACTCGAAATGTCCTGGAACGGTCAGACAAGAAGGCTTATGAAGAGGCTCAGAAGCGCCT
CAAGATGGCCGAGGAAGACCGGAAGGCCATGGTCCCTGAGCTGCGGAAGAAATCTCGCCGAGAGTACCTGGCTAAGCGGGAGCGAGAGAAGCTTGAGGAC
CTGGAGGCGGAGCTGGCTGATGAGGAGTTCCTTTTTGGGGACGTGGAGCTGAGCCGGCACGAGCGGCAGGAGCTCAAATATAAGCGGCGAGTGCGGGATC
TCGCCCGGGAGTACCGGGCAGCTGGGGAGCAGGAGAAGCTGGAGGCCACCAATCGCTACCACATGCCCAAGGAAACCCGARGACAGCCAGCCCGAGCTGT
GGATCTAGTGGAGGAGGAATCAGGAGCCCCTGGGGAGGAGCAGCGGCGCTGGGAGGAGGCGCGGCTTGGGGCAGCGTCCCTGAAGTTTGGGGCCCGAGAT
GCTGCCTCTCAGGAGCCCRAGTATCAACTGGTGCTGGAGGAGGAGGAGACCATTGAGTTTGTCCGGGCCACTCAGCTCCAGGGTGATGAGGAGCCRTCAG
CTCCACCCACTTCAACTCAGGCCCAGCAGAAAGAGTCCATCCAGGCCGTCCGCCGCAGCCTCCCGGTGTTCCCATTTCGAGAGGAGCTCCTGGCTGCTAT
TGCARATCACCAAGTCCTCATCATTGAAGGCGAGACAGGCTCAGGGAAGACCACCCAGATCCCGCAGTATCTCTTTGAGGAGGGTTATACAAACAAGGGT
ATGAAGATTGCCTGCACCCAACCCCGGAGAGTGGCTGCCATGAGTGTGGCCGCCCGAGTGGCCCGGGAGATGGGTGTGAAGCTTGGGAATGAGGTTGGCT
ACAGCATCCGCTTTGAGGACTGCACATCAGAGCGAACTGTCCTCCGCTACATGACAGATGGGATGCTTCTCCGGGAGTTCCTCTCTGAGCCTGACCTGGC
GAGTTACAGCGTGGTGATGGTGGATGAGGCACACGAAAGGACCCTACACACAGACATTCTCTTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAG
CTCAAGGTCCTGGTGGCTTCAGCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATGRCGCCCCTGTGTTTCGAATCCCCGGACGCAGGTTTCCTG
TGGACATCTTCTACACCAAGGCTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTGTTGCAGATCCATGTGACCCAGCCCCCTGGGGATATCCT
GGTGTTCCTGACAGGACAGGAGGAGATTGAGGCTGCCTGTGAGATGCTCCAGGATCGCTGCCGCCGCCTGGGCTCCAAAATCCGGGAGCTCCTGGTGCTG
CCCATTTATGCCAATCTGCCCTCTGACATGCAGGCCCGTATCTTCCAGCCCACACCACCTGGGGCACGAAAKGTGGTTGTGGCAACGAACATTGCTGAGA
CATCACTCACCATTGAGGGCATCATTTATGTGCTGGATCCAGGGTTCTGTAAGCAGAAGAGCTACAACCCCCGCACAGGCATGGAATCGCTCACTGTCAC
ACCCTGCAGCAAGGCCTCAGCCAATCAGCGAGCTGGCAGGGCAGGTCGGGTGGCTGCAGGGAAGTGCTTCCGCCTGTATACCGCCTGGGCCTATCAGCAC
GAGCTTGAGGAAACCACAGTGCCTGAGATCCAGAGGACCAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATCCATGACCTAATGCACTTTG
ATTTCCTGGACCCTCCACCATATGAGACACTGCTGCTGRCTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTGGGGAGCTCACCACGTCTGG
TCGAAAGATGGCAGAGCTGCCGGTGGACCCCATGCTGTCCAAAATGATCTTAGCCTCTGAGAAGTACAGCTGTTCAGAGGAGATCCTGACAGTGGCTGCC
ATGCTCTCTGTCAACAACTCCATCTTCTACCGACCAAAGGACAAGGTCGTCCATGCTGACAATGCCCGTGTCAACTTCTTTCTCCCTGGCGGTGACCACC
TGGTTCTGCTAAATGTTTACACACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGCTATGAGAACTTYGTACAGTTCAGATCGATGCGCCGAGCCCG
GGATGTGCGGGAACAGCTGGAAGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTGCCAGGGGGACTATATCCGTGTACGCAAGGCCATCACTGCT
GGTTACTTTTACCACACGGCACGGTTGACTCGGAGTGGCTACCGCACAGTGAAACAGCAGCAGACAGTCTTCATTCATCCCAACTCCTCCCTCTTTGAGC
AACAGCCACGCTGGCTGCTCTACCACGAACTTGTCTTGACCACCAAAGAGTTCATGAGACAGGTACTGGAGATTGAGAGCAGTTGGCTTCTGGAGGTGGC
TCCCCATTATTATAAGGCCAAGGAGCTAGAAGATCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGAGCTAGGGTAAGAGAAGGAC
GTAAACAGAACCTGACACCAGCTCCTTTTCCTTYTATACATTATTTAATACCTATTAAATAAAATTATTTTTGGAATAAAGCTTGTGGGAACATTTGGGA
TCTAGAGAAAGTGATATGTGAAATTCTATCTCATATAGTCAGTTAAACTTTATTATTTACAAGTTAAATTACACAGCAGCTTTACACAGCATGAGATGGA
AAGGAAGGAAGGAGAGAAACGAGGAGAGGAAGCTGGCTCCTGAGATTCTTGGCTGCCTCCACCTCCTTCTCTTGGGCGTAGCAGTCTTCAGTGCTGCCTC
CACTCCAAGGTCAAGGATCAGGGCTTGGAACACAGGTTTAAGTCAGGTTCTGGCTCTGACAGCCCCAGGGCCACCAGGGCTCCCACTAGCAGCTTCTTCA
CAGGCGTTGGAGGTGAGTGTGAAGGCATCAGCTGCAGGGAGAAAGGTTAATGCCAGTTGGGGGAGGCACACAAATGTTCTACCCTTTACCCCACCCAGCC
CTACCTAGGACTCAMTTTATCTAGACGATGGCGACAAATGAGGCCACTGGAATTCAGGTAGAAAGTGGAGTAGGCATCATAGGTC

Protein Sequence    (SEQ ID NO:1182):
MATPAGLERWVQDELHSVLGLSERHVAQFLIGTAQRCTSAEEFVQRLRDTDTLDLSGPARDFALRLWNKVPRKAVVEKPARAAEREARALLEKNRSYRLL
EDSEESSEETVSRAGSSLQKKRKKRKHLRKKREEEEEEEASEKGKKKTGGSKQQTEKPESEDEWERTERERLQDLEERDAFAERVRQRDKDRTRNVLERS
DKKAYEEAQKRLKMAEEDRKAMVPELRKKSRREYLAKREREKLEDLEAELADEEFLFGDVELSRHERQELKYKRRVRDLAREYRAAGEQEKLEATNRYHM
PKETRGQPARAVDLVEEESGAPGEEQRRWEEARLGAASLKFGARDAASQEPKYQLVLEEEETIEFVRATQLQGDEEPSAPPTSTQAQQKESIQAVRRSLP
VFPFREELLAAIANHQVLIIEGETGSGKTTQIPQYLFEEGYTNKGMKIACTQPRRVAAMSVAARVAREMGVKLGNEVGYSIRFEDCTSERTVLRYMTDGM
LLREFLSEPDLASYSVVMVDEAHERTLHTDILFGLIKDVARFRPELKVLVASATMDTARFSTFFDDAPVFRIPGRRFPVDIFYTKAPEADYLEACVVSVL
QIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIFQPTPPGARKVVVATNIAETSLTIEGIIYVLDPGFCKQKSY
NPRTGMESLTVTPCSKASANQRAGRAGRVAAGKCFRLYTAWAYQHELEETTVPEIQRTSLGNVVLLLKSLGIHDLMHFDFLDPPPYETLLLALEQLYALG
ALNHLGELTTSGRKMAELPVDPMLSKMILASEKYSCSEEILTVAAMLSVNNSIFYRPKDKVVHADNARVNFFLPGGDHLVLLNVYTQWAESGYSSQWCYE
NFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYRTVKQQQTVFIHPNSSLFEQQPRWLLYHELVLTTKEFMRQV
LEIESSWLLEVAPHYYKAKELEDPHAKKMPKKIGKTREELG


SNP Information

Context             (SEQ ID NO:8932):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGACTTGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCT
S
TGACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGTCGCCATGGCGACGCCGGCGGGTCTGGAGCGCTGGGTT
Celera SNP ID:            hCV15963165
SNP Position Transcript:  98
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,138|C,1359)   total(G,138|C,1359) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1182, None   



Context             (SEQ ID NO:8933):
TTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCAGCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATG
R
CGCCCCTGTGTTTCGAATCCCCGGACGCAGGTTTCCTGTGGACATCTTCTACACCAAGGCTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTG
Celera SNP ID:            hCV2436946
SNP Position Transcript:  1862
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,38|G,2)   total(A,76|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 566, (D,GAC)   (G,GGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,16)   total(G,1|A,16)Gaucasian(G,27|A,281)   Ghinese(G,0|A,60)   Japanese(G,0|A,20)   African(G,4|A,96)   total(G,31|A,457)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 566, (D,GAC)   (G,GGC)      566, (G,GGC)   (D,GAC)      



Context             (SEQ ID NO:8934):
TC
K

Celera SNP ID:            hCV25967832
SNP Position Transcript:  3984
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,38)   total(G,1|T,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1182, None



Context             (SEQ ID NO:8935):
ACCCACTTCAACTCAGGCCCAGCAGAAAGAGTCCATCCAGGCCGTCCGCCGCAGCCTCCCGGTGTTCCCATTTCGAGAGGAGCTCCTGGCTGCTATTGCA
R
ATCACCAAGTCCTCATCATTGAAGGCGAGACAGGCTCAGGGAAGACCACCCAGATCCCGCAGTATCTCTTTGAGGAGGGTTATACAAACAAGGGTATGAA
Celera SNP ID:            hCV25606194
SNP Position Transcript:  1405
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 414, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:8936):
TCAACTTCTTTCTCCCTGGCGGTGACCACCTGGTTCTGCTAAATGTTTACACACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGCTATGAGAACTT
Y
GTACAGTTCAGATCGATGCGCCGAGCCCGGGATGTGCGGGAACAGCTGGAAGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTGCCAGGGGGACT
Celera SNP ID:            hCV25606213
SNP Position Transcript:  2871
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,2|T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1182, 902, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:8937):
TCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGAGCTAGGGTAAGAGAAGGACGTAAACAGAACCTGACACCAGCTCCTTTTCCTT
Y
TATACATTATTTAATACCTATTAAATAAAATTATTTTTGGAATAAAGCTTGTGGGAACATTTGGGATCTAGAGAAAGTGATATGTGAAATTCTATCTCAT
Celera SNP ID:            hCV8692892
SNP Position Transcript:  3334
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1182, None   



Context             (SEQ ID NO:8938):
AGCTGCACTCGGTGTTGGGGCTGAGCGAGCGGCACGTCGCCCAGTTTCTGATCGGTACCGCACAGCGCTGCACCTCTGCCGAGGAGTTCGTGCAGCGCCT
R
CGAGACACTGATACCTTGGATCTCAGTGGGCCGGCCCGGGACTTCGCCCTGAGACTCTGGAACAAGGTACCACGAAAGGCAGTGGTAGAAAAGCCAGCTC
Celera SNP ID:            hCV25606206
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1182, 47, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:8939):
CAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATCCATGACCTAATGCACTTTGATTTCCTGGACCCTCCACCATATGAGACACTGCTGCTG
R
CTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTGGGGAGCTCACCACGTCTGGTCGAAAGATGGCAGAGCTGCCGGTGGACCCCATGCTGTC
Celera SNP ID:            hCV8692884
SNP Position Transcript:  2539
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 792, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:8940):
GAGTGTGAAGGCATCAGCTGCAGGGAGAAAGGTTAATGCCAGTTGGGGGAGGCACACAAATGTTCTACCCTTTACCCCACCCAGCCCTACCTAGGACTCA
M
TTTATCTAGACGATGGCGACAAATGAGGCCACTGGAATTCAGGTAGAAAGTGGAGTAGGCATCATAGGTC
Celera SNP ID:            hCV8692893
SNP Position Transcript:  3815
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1182, None   



Context             (SEQ ID NO:8941):
GAGATGCTGCCTCTCAGGAGCCCAAGTATCAACTGGTGCTGGAGGAGGAGGAGACCATTGAGTTTGTCCGGGCCACTCAGCTCCAGGGTGATGAGGAGCC
R
TCAGCTCCACCCACTTCAACTCAGGCCCAGCAGAAAGAGTCCATCCAGGCCGTCCGCCGCAGCCTCCCGGTGTTCCCATTTCGAGAGGAGCTCCTGGCTG
Celera SNP ID:            hCV25606198
SNP Position Transcript:  1296
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1182, 377, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1182, 377, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:8942):
ATCAGGAGCCCCTGGGGAGGAGCAGCGGCGCTGGGAGGAGGCGCGGCTTGGGGCAGCGTCCCTGAAGTTTGGGGCCCGAGATGCTGCCTCTCAGGAGCCC
R
AGTATCAACTGGTGCTGGAGGAGGAGGAGACCATTGAGTTTGTCCGGGCCACTCAGCTCCAGGGTGATGAGGAGCCGTCAGCTCCACCCACTTCAACTCA
Celera SNP ID:            hCV25606199
SNP Position Transcript:  1219
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 352, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:8943):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGAC
Y
TGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCTCTGACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGT
Celera SNP ID:            hCV26546034
SNP Position Transcript:  61
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1182, None   



Context             (SEQ ID NO:8944):
TAAGCGGCGAGTGCGGGATCTCGCCCGGGAGTACCGGGCAGCTGGGGAGCAGGAGAAGCTGGAGGCCACCAATCGCTACCACATGCCCAAGGAAACCCGA
R
GACAGCCAGCCCGAGCTGTGGATCTAGTGGAGGAGGAATCAGGAGCCCCTGGGGAGGAGCAGCGGCGCTGGGAGGAGGCGCGGCTTGGGGCAGCGTCCCT
Celera SNP ID:            hCV26546026
SNP Position Transcript:  1081
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1182, 306, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8945):
GCTCCAAAATCCGGGAGCTCCTGGTGCTGCCCATTTATGCCAATCTGCCCTCTGACATGCAGGCCCGTATCTTCCAGCCCACACCACCTGGGGCACGAAA
K
GTGGTTGTGGCAACGAACATTGCTGAGACATCACTCACCATTGAGGGCATCATTTATGTGCTGGATCCAGGGTTCTGTAAGCAGAAGAGCTACAACCCCC
Celera SNP ID:            hCV25606218
SNP Position Transcript:  2172
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1182, None



Gene Number:                 191
Celera Gene:                 hCG26008 - 30000035920872
Celera Transcript:           hCT1808903 - 30000035920875
Public Transcript Accession: NM_003587
Celera Protein:              hCP1712858 - 30000035920861
Public Protein Accession:    NP_003578
Gene Symbol:                 DHX16
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 16;DBP2;DDX16;PRP8
Celera Genomic Axis:         GA_x5YUV32W6W6(3683008..3703241)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:486):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTACCACGAYAGGCAGTGGTAGAAAAGCCAGCTCGGGCAGCAGAGCSAG
AGGCCCGGGCCCTGCTGGAGAAGAACCGATCTTATAGGTTACTGGAAGACAGTGAAGAGAGCAGTGAGGAGACTGTGAGTAGGGCTGGAAGCAGCCTCCA
GAAGAAACGTAAAAAGCGGAAACACCTCAGGAAGAAGCGTGAGGAAGAAGAGGAGGAAGAGGCTTCTGAGAAAGGGAAGAAGAAAACAGGGGGGAGTAAA
CAGCAYACAGAGAAGCCAGAGTCGGAAGATGAGTGGGAACGGACAGAGCGTGAACGCCTTCAGGACCTGGAGGAGCGTGATGCCTTTGCTGAGCGGGTTC
GACAGCGGGACAAGGATCGGACTCGAAATGTCCTGGAACGGTCAGACAAGAAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCG
GAAGGCCATGGTCCCTGAGCTGCGGAAGAAATCTCGCCGAGAGTACCTGGCTAAGCGGGAGCGAGAGAAGCTTGAGGACCTGGAGGCGGAGCTGGCTGAT
GAGGAGTTCCTTTTTGGGGACGTGGAGCTGAGCCGGCACGAGCGGCAGGAGCTCAAATATAAGCGGCGAGTGCGGGATCTCGCCCGGGAGTACCGGGCAG
CTGGGGAGCAGGAGAAGCTGGAGGCCACCAATCGCTACCACATGCCCAAGGAAACCCGAGGACAGCCAGCCCGAGCTGTGGATCTAGTGGAGGAGGAATC
AGGAGCCCCTGGGGAGGAGCAGCGGCGCTGGGAGGAGGCGCGGCTTGGGGCAGCGTCCCTGAAGTTTGGGGCCCGAGATGCTGCCTCTCAGGAGCCCAAG
TATCAACTGGTGCTGGAGGAGGAGGAGACCATTGAGTTTGTCCGGGCCACTCAGCTCCAGGGTGATGAGGAGCCGTCAGCTCCACCCACTTCAACTCAGG
CCCAGCAGAAAGAGTCCATCCAGGCCGTCCGCCGCAGCCTCCCGGTGTTCCCATTTCGAGAGGAGCTCCTGGCTGCTATTRCAAATCACCAAGTCCTCAT
CATTGAAGGCGAGACAGGCTCAGGGAAGACCACCCAGATCCCGCAGTATCTCTTTGAGGAGGGTTATACAAACAAGGGTATGAAGATTGCCTGCACCCAA
CCCCGGAGAGTGGCTGCCRTGAGTGTGGCCGCCCGAGTGGCCCGGGAGATGGGTGTGAAGCTTGGGAATGAGGTTGGCTACAGCATCCGCTTTGARGACT
GCACATCAGAGCGAACTGTCCTCCGCTACATGACAGATGGGATGCTTCTCCGGGAGTTCCTCTCTGAGCCTGACCTGGCGAGTTACAGCGTGGTGATGGT
GGATRAGGCACACGAAAGGACCCTACACACAGACATTCTCTTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCA
GCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATGACGCCCCTGTGTTTCGAATCCCCGGACGCAGGTTTCCTGTGGACATCTTCTACACCAAGG
CTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTGTTGCAGATCCATGTGACCCAGCCCCCTGGGGATATCCTGGTGTTCCTGACAGGACAGGA
GGAGATTGAGGCTGCCTGTGAGATGCTCCAGGATCGCTGCCGCCGCCTGGGCTCCAAAATCCGGGAGCTCCTGGTGCTGCCCATTTATGCCAATCTGCCC
TCTGACATGCAGGCCCGTATCTTCCAGCCCACACCACCTGGGGCACGAAAGGTGGTTGTGGNAACGAACATTGCTGAGACATCACTCACCATTGAGGGCA
TCATTTATGTGCTGGATCCAGGGTTCTGTAAGCAGAAGAGCTACAACCCCCGCACAGGCATGGAATCGCTCACTGTCACACCCTGCAGCAAGGCCTCAGC
CAATCAGCGAGCTGGCAGGGCAGGTCGGGTGGCTGCAGGGAAGTGCTTCCGCCTGTATACCGCCTGGGCCTATCAGCACGAGCTTGAGGAAACCACAGTG
CCTGAGATCCAGAGGACCAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATCCATGACCTAATKCACTTTGATTTCCTGGACCCTCCACCAT
ATGAGACACTGCTGCTGGCTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTGGGGAGCTCACCACGTCTGGTCGAAAGATGGCAGAGCTGCC
GGTGGACCCCATGCTGTCCAAAATGATCTTAGCCTCTGAGAAGTACAGCTGTTCAGAGGAGATCCTGACAGTGGCTGCCATGCTCTCTGTCAACAACTCC
ATCTTCTACCGACCAAAGGACAAGGTCGTCCATGCTGACAATGCCCGTGTCAACTTCTTTCTCCCTGGCGGTGACCACCTGGTTCTGCTAAATGTTTACA
CACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGCRATGAGAACTTTGTACAGTTCAGATCGATGCGCCGAGCCCGGGATGTGCGGGAACAGCTGGA
AGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTGCCAGGGGGACTATATCCGTGTACGCAAGGCCATCACTGCTGGTTACTTTTACCACACGGCA
CGGTTGACTCGGAGTGGCTACCGCACAGTGAAACAGCAGCAGACAGTCTTCATTCATCCCAACTCCTCCCTCTTTGAGCAACAGCCACGCTGGCTGCTCT
ACCACGAACTTGTCTTGACCACCAAAGAGTTCATGAGACAGGTACTGGAGATTGAGAGCAGTTGGCTTCTYGAGGTGGCTCCCCATTATTATAAGGCCAA
GGAGCTAGAAGATCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGAGCTAGGGTAAGAGAAGGACGTAAACAGAACCTGACACCAG
CTCCTTTTCCTTCTATACATTATTTAATACCTATTAAATAAAATTATTTTTGGAATAAAGCTTGTGGGAACATTTGGGATCTAGAGAAAGTGATATGTGA
AATTCTATCTCATATAGTCAGTTAAACTTTATTATTTACAAGTTAAATTACACAGCAGCTTTACACAGCATGAGATGGAAAGGAAGGAAGGAGAGAAACG
AGGAGAGGAAGCTGGCTCCTGAGATTCTTGGCTGCCTCCACCTCCTTCTCTTGGGCGTAGCAGTCTTCAGTGCTGCCTCCACTCCAAGGTCAAGGATCAG
GGCTTGGAACACAGGTTTAAGTCAGGTTCTGGCYCTGACAGCCCCAGGGCCACCAGGGCTCCCACTAGCAGCTTCTTCACAGGCGTTGGAGGTGAGTGTG
AAGGCATCAG

Protein Sequence    (SEQ ID NO:1183):
MSEDPRGPKVPRKAVVEKPARAAEREARALLEKNRSYRLLEDSEESSEETVSRAGSSLQKKRKKRKHLRKKREEEEEEEASEKGKKKTGGSKQQTEKPES
EDEWERTERERLQDLEERDAFAERVRQRDKDRTRNVLERSDKKAYEEAQKRLKMAEEDRKAMVPELRKKSRREYLAKREREKLEDLEAELADEEFLFGDV
ELSRHERQELKYKRRVRDLAREYRAAGEQEKLEATNRYHMPKETRGQPARAVDLVEEESGAPGEEQRRWEEARLGAASLKFGARDAASQEPKYQLVLEEE
ETIEFVRATQLQGDEEPSAPPTSTQAQQKESIQAVRRSLPVFPFREELLAAIANHQVLIIEGETGSGKTTQIPQYLFEEGYTNKGMKIACTQPRRVAAMS
VAARVAREMGVKLGNEVGYSIRFEDCTSERTVLRYMTDGMLLREFLSEPDLASYSVVMVDEAHERTLHTDILFGLIKDVARFRPELKVLVASATMDTARF
STFFDDAPVFRIPGRRFPVDIFYTKAPEADYLEACVVSVLQIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIF
QPTPPGARKVVVATNIAETSLTIEGIIYVLDPGFCKQKSYNPRTGMESLTVTPCSKASANQRAGRAGRVAAGKCFRLYTAWAYQHELEETTVPEIQRTSL
GNVVLLLKSLGIHDLMHFDFLDPPPYETLLLALEQLYALGALNHLGELTTSGRKMAELPVDPMLSKMILASEKYSCSEEILTVAAMLSVNNSIFYRPKDK
VVHADNARVNFFLPGGDHLVLLNVYTQWAESGYSSQWCYENFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYR
TVKQQQTVFIHPNSSLFEQQPRWLLYHELVLTTKEFMRQVLEIESSWLLEVAPHYYKAKELEDPHAKKMPKKIGKTREELG


SNP Information

Context             (SEQ ID NO:8946):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTACCACGAAAGGCAGTGGTAGAAAAGCCAGCTCGGGCAGCAGAGC
S
AGAGGCCCGGGCCCTGCTGGAGAAGAACCGATCTTATAGGTTACTGGAAGACAGTGAAGAGAGCAGTGAGGAGACTGTGAGTAGGGCTGGAAGCAGCCTC
Celera SNP ID:            hCV15963165
SNP Position Transcript:  98
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,138|C,1359)   total(G,138|C,1359) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1183, None   



Context             (SEQ ID NO:8947):
TTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCAGCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATG
R
CGCCCCTGTGTTTCGAATCCCCGGACGCAGGTTTCCTGTGGACATCTTCTACACCAAGGCTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTG
Celera SNP ID:            hCV2436946
SNP Position Transcript:  1541
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,38|G,2)   total(A,76|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 566, (D,GAC)   (G,GGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,16)   total(G,1|A,16)Gaucasian(G,27|A,281)   Ghinese(G,0|A,60)   Japanese(G,0|A,20)   African(G,4|A,96)   total(G,31|A,457)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 566, (D,GAC)   (G,GGC)      566, (G,GGC)   (D,GAC)      



Context             (SEQ ID NO:8948):
ATCAGAGCGAACTGTCCTCCGCTACATGACAGATGGGATGCTTCTCCGGGAGTTCCTCTCTGAGCCTGACCTGGCGAGTTACAGCGTGGTGATGGTGGAT
R
AGGCACACGAAAGGACCCTACACACAGACATTCTCTTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCAGCCAC
Celera SNP ID:            hCV25606194
SNP Position Transcript:  1405
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 414, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:8949):
TCTTTGAGCAACAGCCACGCTGGCTGCTCTACCACGAACTTGTCTTGACCACCAAAGAGTTCATGAGACAGGTACTGGAGATTGAGAGCAGTTGGCTTCT
Y
GAGGTGGCTCCCCATTATTATAAGGCCAAGGAGCTAGAAGATCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGAGCTAGGGTAAG
Celera SNP ID:            hCV25606213
SNP Position Transcript:  2871
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,2|T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1183, 902, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:8950):
GCCTCCACCTCCTTCTCTTGGGCGTAGCAGTCTTCAGTGCTGCCTCCACTCCAAGGTCAAGGATCAGGGCTTGGAACACAGGTTTAAGTCAGGTTCTGGC
Y
CTGACAGCCCCAGGGCCACCAGGGCTCCCACTAGCAGCTTCTTCACAGGCGTTGGAGGTGAGTGTGAAGGCATCAG
Celera SNP ID:            hCV8692892
SNP Position Transcript:  3334
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1183, None   



Context             (SEQ ID NO:8951):
AACGTAAAAAGCGGAAACACCTCAGGAAGAAGCGTGAGGAAGAAGAGGAGGAAGAGGCTTCTGAGAAAGGGAAGAAGAAAACAGGGGGGAGTAAACAGCA
Y
ACAGAGAAGCCAGAGTCGGAAGATGAGTGGGAACGGACAGAGCGTGAACGCCTTCAGGACCTGGAGGAGCGTGATGCCTTTGCTGAGCGGGTTCGACAGC
Celera SNP ID:            hCV25606206
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1183, 47, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:8952):
CAATGCCCGTGTCAACTTCTTTCTCCCTGGCGGTGACCACCTGGTTCTGCTAAATGTTTACACACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGC
R
ATGAGAACTTTGTACAGTTCAGATCGATGCGCCGAGCCCGGGATGTGCGGGAACAGCTGGAAGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTG
Celera SNP ID:            hCV8692884
SNP Position Transcript:  2539
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 792, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:8953):
CCCAACCCCGGAGAGTGGCTGCCATGAGTGTGGCCGCCCGAGTGGCCCGGGAGATGGGTGTGAAGCTTGGGAATGAGGTTGGCTACAGCATCCGCTTTGA
R
GACTGCACATCAGAGCGAACTGTCCTCCGCTACATGACAGATGGGATGCTTCTCCGGGAGTTCCTCTCTGAGCCTGACCTGGCGAGTTACAGCGTGGTGA
Celera SNP ID:            hCV25606198
SNP Position Transcript:  1296
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,38)   total(A,2|G,72)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1183, 377, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(G,40)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1183, 377, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:8954):
CTCAGGGAAGACCACCCAGATCCCGCAGTATCTCTTTGAGGAGGGTTATACAAACAAGGGTATGAAGATTGCCTGCACCCAACCCCGGAGAGTGGCTGCC
R
TGAGTGTGGCCGCCCGAGTGGCCCGGGAGATGGGTGTGAAGCTTGGGAATGAGGTTGGCTACAGCATCCGCTTTGAGGACTGCACATCAGAGCGAACTGT
Celera SNP ID:            hCV25606199
SNP Position Transcript:  1219
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 352, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:8955):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTACCACGA
Y
AGGCAGTGGTAGAAAAGCCAGCTCGGGCAGCAGAGCGAGAGGCCCGGGCCCTGCTGGAGAAGAACCGATCTTATAGGTTACTGGAAGACAGTGAAGAGAG
Celera SNP ID:            hCV26546034
SNP Position Transcript:  61
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1183, None   



Context             (SEQ ID NO:8956):
TCCACCCACTTCAACTCAGGCCCAGCAGAAAGAGTCCATCCAGGCCGTCCGCCGCAGCCTCCCGGTGTTCCCATTTCGAGAGGAGCTCCTGGCTGCTATT
R
CAAATCACCAAGTCCTCATCATTGAAGGCGAGACAGGCTCAGGGAAGACCACCCAGATCCCGCAGTATCTCTTTGAGGAGGGTTATACAAACAAGGGTAT
Celera SNP ID:            hCV26546026
SNP Position Transcript:  1081
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1183, 306, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:8957):
ATCAGCACGAGCTTGAGGAAACCACAGTGCCTGAGATCCAGAGGACCAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATCCATGACCTAAT
K
CACTTTGATTTCCTGGACCCTCCACCATATGAGACACTGCTGCTGGCTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTGGGGAGCTCACCA
Celera SNP ID:            hCV25606218
SNP Position Transcript:  2172
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1183, None



Gene Number:                 191
Celera Gene:                 hCG26008 - 30000035920872
Celera Transcript:           hCT2294072 - 30000035920868
Public Transcript Accession: NM_003587
Celera Protein:              hCP1853947 - 30000035920857
Public Protein Accession:    NP_003578
Gene Symbol:                 DHX16
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 16;DBP2;DDX16;PRP8
Celera Genomic Axis:         GA_x5YUV32W6W6(3698263..3703241)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:487):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGACYTGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCTSTG
ACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGTCGCCATGGCGACGCCGGCGGGTCTGGAGCGCTGGGTTCA
GGACGAGCTGCACTCGGTGTTGGGGCTGAGCGAGCGGCACGTCGCCCAGTTTCTGATCGGTACCGCACAGCGCTGCACCTCTGCCGAGGAGTTCGTGCAG
CGCCTRCGAGACACTGATACCTTGGATCTCAGTGGGCCGGCCCGGGACTTCGCCCTGAGACTCTGGAACAAGGTACCACGAAAGGCAGTGGTAGAAAAGC
CAGCTCGGGCAGCAGAGCGAGAGGCCCGGGCCCTGCTGGAGAAGAACCGATCTTATAGGTTACTGGAAGACAGTGAAGAGAGCAGTGAGGAGACTGTGAG
TAGGGCTGGAAGCAGCCTCCAGAAGAAACGTAAAAAGCGGAAACACCTCAGGAAGAAGCGTGAGGAAGAAGAGGAGGAAGAGGCTTCTGAGAAAGGGAAG
AAGAAAACAGGGGGGAGTAAACAGCAGACAGAGAAGCCAGAGTCGGAAGATGAGTGGGAACGGACAGAGCGTGAACGCCTTCAGGACCTGGAGGAGCGTG
ATGCCTTTGCTGAGCGGGTTCGACAGCGGGACAAGGATCGGACTCGAAATGTCCTGGAACGGTCAGACAAGAAGGCTTATGAAGAGGCTCAGAAGCGCCT
CAAGATGGCCGAGGAAGACCGGAAGGCCATGACCATTTAAAAGAGTCTTAGACATCATGGCGTTTTATCTCTAAGTACATCAGTGTGTACCTGCTAAGGA
TAAAGATATTGTCCTCTAAAATCAGAATGCTCTTGTCACAGTCAGGAAGTTGAACAGTAATTCTTATGTATCGACTAAGATCTCTCTACAATAAAAGATA
CCCTCATTACCCTC

Protein Sequence    (SEQ ID NO:1184):
MATPAGLERWVQDELHSVLGLSERHVAQFLIGTAQRCTSAEEFVQRLRDTDTLDLSGPARDFALRLWNKVPRKAVVEKPARAAEREARALLEKNRSYRLL
EDSEESSEETVSRAGSSLQKKRKKRKHLRKKREEEEEEEASEKGKKKTGGSKQQTEKPESEDEWERTERERLQDLEERDAFAERVRQRDKDRTRNVLERS
DKKAYEEAQKRLKMAEEDRKAMTI


SNP Information

Context             (SEQ ID NO:8958):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGACTTGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCT
S
TGACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGTCGCCATGGCGACGCCGGCGGGTCTGGAGCGCTGGGTT
Celera SNP ID:            hCV15963165
SNP Position Transcript:  98
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,138|C,1359)   total(G,138|C,1359) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1184, None   



Context             (SEQ ID NO:8959):
AGCTGCACTCGGTGTTGGGGCTGAGCGAGCGGCACGTCGCCCAGTTTCTGATCGGTACCGCACAGCGCTGCACCTCTGCCGAGGAGTTCGTGCAGCGCCT
R
CGAGACACTGATACCTTGGATCTCAGTGGGCCGGCCCGGGACTTCGCCCTGAGACTCTGGAACAAGGTACCACGAAAGGCAGTGGTAGAAAAGCCAGCTC
Celera SNP ID:            hCV25606206
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1184, 47, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:8960):
GCGGTACGGGAAGACAGCTTTGGGATGTCGGAAGATCCTAGAGGTCCCAAGGTAGCTGAC
Y
TGCGAAGCTGAGGCTCCAGCCGAGGGCTCCAGGCCTCTGACCGGCCCAGCAGTGAGCGCGGCTGCCCGACGCTTCAGGGCCGGGAGCAGGGAGCGTGAGT
Celera SNP ID:            hCV26546034
SNP Position Transcript:  61
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1184, None   



Context             (SEQ ID NO:8961):
TCTCTCTACAATAAAAGATACCCTCATTACCCTC
R

Celera SNP ID:            hCV26546026
SNP Position Transcript:  1081
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,3)   total(G,3|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1184, 306, (R,AGA)   (G,GGA)      



Gene Number:                 191
Celera Gene:                 hCG26008 - 30000035920872
Celera Transcript:           hCT2294069 - 30000035920828
Public Transcript Accession: NM_003587
Celera Protein:              hCP1853948 - 197000069367082
Public Protein Accession:    NP_003578
Gene Symbol:                 DHX16
Protein Name:                DEAH (Asp-Glu-Ala-His) box polypeptide 16;DBP2;DDX16;PRP8
Celera Genomic Axis:         GA_x5YUV32W6W6(3683008..3692221)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:488):
CTGAACAATATGTGCCTTTTTGACTCTTCAGAGGCTGTGAATTTCTGGTCTTGGAAGATCACAGTGGAGCAATTGGACAGATAGGATTTTATCCTTCATA
TCCCTTGCAAAARATCTCTAAGAACCCATGGAGAGCCAGCCAGCGCAAGAGTGTCTGATGCAGATGTTTTTGCCCATCGAGCCAGCCTGCTTTGTGGAAT
GGCTGGGGACTTCACCATCACAGTTAGGCGTGGTGATGGTGGATGAGGCACACGAAAGGACCCTACACACAGACATTCTCTTTGGATTGATCAAGGATGT
TGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCAGCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATGRCGCCCCTGTGTTTCGAATC
CCCGGACGCAGGTTTCCTGTGGACATCTTCTACACCAAGGCTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTGTTGCAGATCCATGTGACCC
AGCCCCCTGGGGATATCCTGGTGTTCCTGACAGGACAGGAGGAGATTGAGGCTGCCTGTGAGATGCTCCAGGATCGCTGCCGCCGCCTGGGCTCCAAAAT
CCGGGAGCTCCTGGTGCTGCCCATTTATGCCAATCTGCCCTCTGACATGCAGGCCCGTATCTTCCAGCCCACACCACCTGGGGCACGAAAKGTGGTTGTG
GCAACGAACATTGCTGAGACATCACTCACCATTGAGGGCATCATTTATGTGCTGGATCCAGGGTTCTGTAAGCAGAAGAGCTACAACCCCCGCACAGGCA
TGGAATCGCTCACTGTCACACCCTGCAGCAAGGCCTCAGCCAATCAGCGAGCTGGCAGGGCAGGTCGGGTGGCTGCAGGGAAGTGCTTCCGCCTGTATAC
CGCCTGGGCCTATCAGCACGAGCTTGAGGAAACCACAGTGCCTGAGATCCAGAGGACCAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATC
CATGACCTAATGCACTTTGATTTCCTGGACCCTCCACCATATGAGACACTGCTGCTGRCTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTG
GGGAGCTCACCACGTCTGGTCGAAAGATGGCAGAGCTGCCGGTGGACCCCATGCTGTCCAAAATGATCTTAGCCTCTGAGAAGTACAGCTGTTCAGAGGA
GATCCTGACAGTGGCTGCCATGCTCTCTGTCAACAACTCCATCTTCTACCGACCAAAGGACAAGGTCGTCCATGCTGACAATGCCCGTGTCAACTTCTTT
CTCCCTGGCGGTGACCACCTGGTTCTGCTAAATGTTTACACACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGCTATGAGAACTTYGTACAGTTCA
GATCGATGCGCCGAGCCCGGGATGTGCGGGAACAGCTGGAAGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTGCCAGGGGGACTATATCCGTGT
ACGCAAGGCCATCACTGCTGGTTACTTTTACCACACGGCACGGTTGACTCGGAGTGGCTACCGCACAGTGAAACAGCAGCAGACAGTCTTCATTCATCCC
AACTCCTCCCTCTTTGAGCAACAGCCACGCTGGCTGCTCTACCACGAACTTGTCTTGACCACCAAAGAGTTCATGAGACAGGTACTGGAGATTGAGAGCA
GTTGGCTTCTGGAGGTGGCTCCCCATTATTATAAGGCCAAGGAGCTAGAAGATCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGA
GCTAGGGTAAGAGAAGGACGTAAACAGAACCTGACACCAGCTCCTTTTCCTTYTATACATTATTTAATACCTATTAAATAAAATTATTTTTGGAATAAAG
CTTGTGGGAACATTTGGGATCTAGAGAAAGTGATATGTGAAATTCTATCTCATATAGTCAGTTAAACTTTATTATTTACAAGTTAAATTACACAGCAGCT
TTACACAGCATGAGATGGAAAGGAAGGAAGGAGAGAAACGAGGAGAGGAAGCTGGCTCCTGAGATTCTTGGCTGCCTCCACCTCCTTCTCTTGGGCGTAG
CAGTCTTCAGTGCTGCCTCCACTCCAAGGTCAAGGATCAGGGCTTGGAACACAGGTTTAAGTCAGGTTCTGGCTCTGACAGCCCCAGGGCCACCAGGGCT
CCCACTAGCAGCTTCTTCACAGGCGTTGGAGGTGAGTGTGAAGGCATCAG

Protein Sequence    (SEQ ID NO:1185):
MESQPAQECLMQMFLPIEPACFVEWLGTSPSQLGVVMVDEAHERTLHTDILFGLIKDVARFRPELKVLVASATMDTARFSTFFDDAPVFRIPGRRFPVDI
FYTKAPEADYLEACVVSVLQIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIFQPTPPGARKVVVATNIAETSL
TIEGIIYVLDPGFCKQKSYNPRTGMESLTVTPCSKASANQRAGRAGRVAAGKCFRLYTAWAYQHELEETTVPEIQRTSLGNVVLLLKSLGIHDLMHFDFL
DPPPYETLLLALEQLYALGALNHLGELTTSGRKMAELPVDPMLSKMILASEKYSCSEEILTVAAMLSVNNSIFYRPKDKVVHADNARVNFFLPGGDHLVL
LNVYTQWAESGYSSQWCYENFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYRTVKQQQTVFIHPNSSLFEQQP
RWLLYHELVLTTKEFMRQVLEIESSWLLEVAPHYYKAKELEDPHAKKMPKKIGKTREELG


SNP Information

Context             (SEQ ID NO:8962):
TCAACTTCTTTCTCCCTGGCGGTGACCACCTGGTTCTGCTAAATGTTTACACACAGTGGGCTGAGAGTGGTTACTCTTCCCAGTGGTGCTATGAGAACTT
Y
GTACAGTTCAGATCGATGCGCCGAGCCCGGGATGTGCGGGAACAGCTGGAAGGGCTCTTGGAACGTGTGGAAGTTGGTCTCAGTTCCTGCCAGGGGGACT
Celera SNP ID:            hCV25606213
SNP Position Transcript:  1390
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(C,2|T,38)   total(C,2|T,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1185, 421, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:8963):
TGCCTTTTTGACTCTTCAGAGGCTGTGAATTTCTGGTCTTGGAAGATCACAGTGGAGCAATTGGACAGATAGGATTTTATCCTTCATATCCCTTGCAAAA
R
ATCTCTAAGAACCCATGGAGAGCCAGCCAGCGCAAGAGTGTCTGATGCAGATGTTTTTGCCCATCGAGCCAGCCTGCTTTGTGGAATGGCTGGGGACTTC
Celera SNP ID:            hCV8692883
SNP Position Transcript:  113
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,14)      total(G,14|A,1) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1185, None   



Context             (SEQ ID NO:8964):
CAGCTTGGGCAATGTCGTGTTGCTGCTCAAGAGCTTAGGGATCCATGACCTAATGCACTTTGATTTCCTGGACCCTCCACCATATGAGACACTGCTGCTG
R
CTTTGGAGCAGCTGTATGCTCTGGGAGCCCTCAACCACCTTGGGGAGCTCACCACGTCTGGTCGAAAGATGGCAGAGCTGCCGGTGGACCCCATGCTGTC
Celera SNP ID:            hCV8692884
SNP Position Transcript:  1058
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1185, 311, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:8965):
TCCCCATGCTAAGAAAATGCCCAAAAAAATAGGCAAAACACGAGAAGAGCTAGGGTAAGAGAAGGACGTAAACAGAACCTGACACCAGCTCCTTTTCCTT
Y
TATACATTATTTAATACCTATTAAATAAAATTATTTTTGGAATAAAGCTTGTGGGAACATTTGGGATCTAGAGAAAGTGATATGTGAAATTCTATCTCAT
Celera SNP ID:            hCV8692892
SNP Position Transcript:  1853
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1185, None   



Context             (SEQ ID NO:8966):
TTTGGATTGATCAAGGATGTTGCTCGCTTCCGACCTGAGCTCAAGGTCCTGGTGGCTTCAGCCACAATGGACACTGCCCGTTTTTCCACCTTCTTTGATG
R
CGCCCCTGTGTTTCGAATCCCCGGACGCAGGTTTCCTGTGGACATCTTCTACACCAAGGCTCCAGAGGCTGACTACTTGGAAGCTTGTGTAGTATCTGTG
Celera SNP ID:            hCV2436946
SNP Position Transcript:  381
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,38|G,2)   total(A,76|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1185, 85, (D,GAC)   (G,GGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,16)   total(G,1|A,16)Gaucasian(G,27|A,281)   Ghinese(G,0|A,60)   Japanese(G,0|A,20)   African(G,4|A,96)   total(G,31|A,457)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1185, 85, (D,GAC)   (G,GGC)      85, (G,GGC)   (D,GAC)      



Context             (SEQ ID NO:8967):
GCTCCAAAATCCGGGAGCTCCTGGTGCTGCCCATTTATGCCAATCTGCCCTCTGACATGCAGGCCCGTATCTTCCAGCCCACACCACCTGGGGCACGAAA
K
GTGGTTGTGGCAACGAACATTGCTGAGACATCACTCACCATTGAGGGCATCATTTATGTGCTGGATCCAGGGTTCTGTAAGCAGAAGAGCTACAACCCCC
Celera SNP ID:            hCV25606218
SNP Position Transcript:  691
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1185, None



Gene Number:                 192
Celera Gene:                 hCG26604 - 104000117072315
Celera Transcript:           hCT17735 - 104000117072316
Public Transcript Accession: NM_001946
Celera Protein:              hCP43167 - 197000069413721
Public Protein Accession:    NP_001937
Gene Symbol:                 DUSP6
Protein Name:                dual specificity phosphatase 6;MKP-3;MKP3;PYST1
Celera Genomic Axis:         GA_x5YUV32W46Y(37036529..37042570)
Chromosome:                  Chr12
OMIM number:                 602748
OMIM Information:            DUAL-SPECIFICITY PHOSPHATASE 6;DUSP6


Transcript Sequence (SEQ ID NO:489):
TGTTTCTGCACTCTACATTGTTTTAATGAAAATAAAATGTTATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGC
TTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATAYGTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCA
ACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTGGGCCTTTAAAAGTGGCAAACAAATGCCACACACCGCCTAAAGAAGGGGGGTTGGGGGAG
GGGAGGGTTAAGGCGAACTTGGGTCCAAATGAGTTTGAAGGGAATACAAAGAACGAAAAGTCAGCACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGC
GTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAGKGTGAACTCTCAACAGAAGGAAACATGAGACAACT
GAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCCCGCCGAGCCCGCTGTTGCAGCTTGTTTGCACTGG
GGCTTATCCGGAGCGGAAATTCCTTTCCGTTTTTGTGAATGACAAACTCATTAACAATTCATCAACACAACCTGTTCCAGCCGGCCCGTCCCCACGGCAA
CAGCCCCTTCCGCAGCACGCTCATTGGCTGGCCCGGAGAATGTATCCATTGAGACGCTCGCTGTTTGTATCCATTGAGGAGCTGCCTCGCGCAGGGGGTG
TGCGAGGCTGAGTCCAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAG
AAGCCGCTAGACTTYTTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCA
TTGAGAGAGATTCATTGACACTAAGAGCCAGCGGCTGCAGCTGGGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTC
GGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGCRGCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGG
CACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCTCAGACCCGTGCCCTTCGCGTCGGAAATGGCGATCAGCAAGACGGTGGCGTGGCTCA
ACGAGCAGCTGGAGCTGGGCAACGAGCGGCTGCTGCTGATGGACTGCCGGCCGCAGGAGCTATACGAGTCGTCGCACATCGAGTCGGCCATCAACGTGGC
CATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCAYCCGGCGCTGT
GGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGKTGCTCGGGCTGCTGCTCAAGAAGCTCAAGG
ACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTCKCCCTGCATTGCGAGACCAATCTAGACGGCTCGTGTAGCAG
CAGCTCGCCGCCGTTGCCAGTGCTGGGGCTCGGGGGCCTGCGGATCAGCTCTGACTCTTCCTCGGACATCGAGTCTGACCTTGACCGAGACCCCAATAGT
GCAACAGACTCGGATGGTAGTCCGCTGTCCAACAGCCAGCCTTCCTTCCCAGTGGAGATCTTGCCCTTCCTCTACTTGGGCTGTGCCAAAGACTCCACCA
ACTTGGACGTGTTGGAGGAATTCGGCATCAAGTACATCTTGAACGTCACCCCCAATTTGCCGAATCTCTTTGAGAACGCAGGAGAGTTTAAATACAAGCA
AATCCCCATCTCGGATCACTGGAGCCAAAACCTGTCCCAGTTTTTCCCTGAGGCCATTTCTTTCATAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTG
GTACATTGCTTGGCTGGCATTAGCCGCKCAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGAYGCCTATGACATTGTCA
AAATGAAAAAATCCAACATATCCCCTAACTTCAACTTCATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCCCATGTGACAACAGGGT
TCCAGCACAGCAGCTGTATTTTACCACCCCTTCCAACCAGAATGTATACCAGGTGGACTCTCTGCAATCTACGTGAAAGACCCCACACCCCTCCTTGCTG
GAATGTGTCTGGCCCTTCAGCAGTTTCTCTTGGCAGCATCAGCTGGGCTGCTTTCTTTGTGTGTGGCCCCAGGTGTCAAAATGACACCAGCTGTCTGTAC
TAGACAAGGTTACCAAGTGCGGAATTGGTTAATACTAACAGAGAGATTTGCTCCATTCTCTTTGGAATAACAGGACATGCTGTATAGATACAGGCAGTAG
GTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAGGGACTGGGATTCGAGGACTTCCAGGCGCATAGGGTAGRACCAAATGATAGGGTAGGAGCATG
TGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCATCTGGAACTGACTATATAATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCC
AAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTTGGAAAARAAAATCTGATACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACA
GTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAA
CAAAAAAAGAAAATTGTGCTCTKTTSTAATCCAAAGGGKAKATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCAC
TAAGACCTTGTTATGGCGAASTCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGASTATGCCTTACCTTTGTAAATATT
TTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAARAAAGAATAAAAAAACCTTCAGCTGTGCTAAA
CAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGTCACCTCAAATGCAATACTTTGGGTTGGTTTCTTTCCTTTAAAAAAATTTGTATAAAACTGGA
AGTGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGAGAAATGCATTTGATTGTGAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGT
TTWGAGCTGGAATTTATTATAAGAATGTAAAACCTTAAATTATTAATAAATAACTATTTTGGCTATTGAATGTGTGTTTTTAAAAACTCAGTTATACCTA
TGTGTGAAGTGACACATTTTAGAACTTTTTCATTCAGGGATTGATTTTGACTTGTAGGCATAGTAGGGCAAGGTTCTTTTAAGCTTTTCCTAGAAYGTTT
TTCAGCAGCAGTTTATGAAATTCATCGTTTGCCACGAATAAAGATGACATCCTAGAATGGACCGACTGTACCGTGTATATGAACAATACCTCTTATGAGT
ATAGTTCCGGCTTAAGATTTTAAAGCCCCTGAAGAAAAATGAACCTATAGAGCATAGCTTGCTGAGGAATACAATTTGGATATTAACCACAGAGAGGTGT
AGCAGAATACCAAGATGACAGCCACATGTTAACCTCCTCCCTATCCTTCACTGTCAGGATCTTCTGCTYTATAATGCTGAGATAATGCCAAAGAGGAAGT
AGGGATAATTCTTTTTCCAGTCTGTTGTCATGGGCAATTCTACCTGCAGATATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCC
CTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCACYGTGTCAGGATAYGGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCT
GTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGTGGGTCAGAAACCCTTATTGAAACTTGTGGGGATTATTTTAGTTTCTTTTCAAGCTAAAGACT
TTATATCTTGCCATTTTTCTTGGGACCTACCCTCTCCTTACCTCAAATGTAAAAATACACAAACCAAAATAAAAGGCAGGTGTATGGAATCAAAAGAACT
A

Protein Sequence    (SEQ ID NO:1186):
MIDTLRPVPFASEMAISKTVAWLNEQLELGNERLLLMDCRPQELYESSHIESAINVAIPGIMLRRLQKGNLPVRALFTRGEDRDRFTRRCGTDTVVLYDE
SSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEGGFSKFQAEFSLHCETNLDGSCSSSSPPLPVLGLGGLRISSDSSSDIESDLDRDPNSATDSDGSPLS
NSQPSFPVEILPFLYLGCAKDSTNLDVLEEFGIKYILNVTPNLPNLFENAGEFKYKQIPISDHWSQNLSQFFPEAISFIDEARGKNCGVLVHCLAGISRS
VTVTVAYLMQKLNLSMNDAYDIVKMKKSNISPNFNFMGQLLDFERTLGLSSPCDNRVPAQQLYFTTPSNQNVYQVDSLQST


SNP Information

Context             (SEQ ID NO:8968):
TATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGCTTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATA
Y
GTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCAACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTG
Celera SNP ID:            hCV27837517
SNP Position Transcript:  141
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,33)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1186, None



Context             (SEQ ID NO:8969):
GGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTCGGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGC
R
GCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGGCACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCT
Celera SNP ID:            hCV25606791
SNP Position Transcript:  1144
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,34)   total(A,4|G,66)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1186, None



Context             (SEQ ID NO:8970):
ATCAACGTGGCCATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCA
Y
CCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGGTGCTCGGGCTGCTGCTCAAG
Celera SNP ID:            hCV25606792
SNP Position Transcript:  1490
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 87, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 87, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:8971):
ATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCCCTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCACCGTGTCAGGATA
Y
GGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCTGTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGTGGGTCAGAAACCCT
Celera SNP ID:            hCV1986660
SNP Position Transcript:  4152
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,8)      total(C,3|T,8) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8972):
AAACCTGTCCCAGTTTTTCCCTGAGGCCATTTCTTTCATAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGC
K
CAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGATGCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAA
Celera SNP ID:            hCV25606793
SNP Position Transcript:  2128
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(G,1|T,35)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 300, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:8973):
ACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGCGTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAG
K
GTGAACTCTCAACAGAAGGAAACATGAGACAACTGAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCC
Celera SNP ID:            hCV27831612
SNP Position Transcript:  466
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,22)   caucasian(T,32)   total(G,2|T,54)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1186, None

SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,27)   caucasian(T,34)   total(G,3|T,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1186, None



Context             (SEQ ID NO:8974):
ATACAATTTGGATATTAACCACAGAGAGGTGTAGCAGAATACCAAGATGACAGCCACATGTTAACCTCCTCCCTATCCTTCACTGTCAGGATCTTCTGCT
Y
TATAATGCTGAGATAATGCCAAAGAGGAAGTAGGGATAATTCTTTTTCCAGTCTGTTGTCATGGGCAATTCTACCTGCAGATATCCTAGTGTGAGAATGC
Celera SNP ID:            hCV1986661
SNP Position Transcript:  3969
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   JBIC-allele(C,39|T,1402)   total(C,39|T,1402)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8975):
CAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAGAAGCCGCTAGACTT
Y
TTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCATTGAGAGAGATTCAT
Celera SNP ID:            hCV27839371
SNP Position Transcript:  915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,28)   total(C,1|T,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1186, None



Context             (SEQ ID NO:8976):
TAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAA
R
AAAGAATAAAAAAACCTTCAGCTGTGCTAAACAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGTCACCTCAAATGCAATACTTTGGGTTGGTTTC
Celera SNP ID:            hCV8716753
SNP Position Transcript:  3269
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8977):
TTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGGTA
K
ATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTA
Celera SNP ID:            hCV8716762
SNP Position Transcript:  3041
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8978):
CATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGA
S
TATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAAGAAAGAATA
Celera SNP ID:            hCV8716754
SNP Position Transcript:  3177
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8979):
TTTTTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCT
K
TTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTC
Celera SNP ID:            hCV8716771
SNP Position Transcript:  3023
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8980):
GCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGG
K
ATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATG
Celera SNP ID:            hCV8716763
SNP Position Transcript:  3039
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8981):
CTTTTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAA
S
TCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAG
Celera SNP ID:            hCV8716755
SNP Position Transcript:  3121
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8982):
CTGACTATATAATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCCAAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTTGGAAAA
R
AAAATCTGATACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACAGTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGGGCTTAAA
Celera SNP ID:            hCV8716772
SNP Position Transcript:  2845
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8983):
TTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTT
S
TAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTT
Celera SNP ID:            hCV8716764
SNP Position Transcript:  3026
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8984):
CTACCTGCAGATATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCCCTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCAC
Y
GTGTCAGGATATGGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCTGTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGTGG
Celera SNP ID:            hCV15965878
SNP Position Transcript:  4140
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,19|C,1480)   total(C,1480|T,19) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8985):
ACCTATGTGTGAAGTGACACATTTTAGAACTTTTTCATTCAGGGATTGATTTTGACTTGTAGGCATAGTAGGGCAAGGTTCTTTTAAGCTTTTCCTAGAA
Y
GTTTTTCAGCAGCAGTTTATGAAATTCATCGTTTGCCACGAATAAAGATGACATCCTAGAATGGACCGACTGTACCGTGTATATGAACAATACCTCTTAT
Celera SNP ID:            hCV8716748
SNP Position Transcript:  3696
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8986):
TGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGAGAAATGCATTTGATTGTGAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGTTT
W
GAGCTGGAATTTATTATAAGAATGTAAAACCTTAAATTATTAATAAATAACTATTTTGGCTATTGAATGTGTGTTTTTAAAAACTCAGTTATACCTATGT
Celera SNP ID:            hCV8716749
SNP Position Transcript:  3503
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8987):
CATGCTGTATAGATACAGGCAGTAGGTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAGGGACTGGGATTCGAGGACTTCCAGGCGCATAGGGTAG
R
ACCAAATGATAGGGTAGGAGCATGTGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCATCTGGAACTGACTATATAATTGTCTTCAATGAAGACTAA
Celera SNP ID:            hCV8716773
SNP Position Transcript:  2676
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1186, None   



Context             (SEQ ID NO:8988):
AGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGCTCAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGA
Y
GCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAACTTCAACTTCATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCC
Celera SNP ID:            hCV8716782
SNP Position Transcript:  2184
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,34)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1186, 318, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(T,26)   total(C,3|T,55)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1186, 318, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1186, 318, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:8989):
CGGCGAGTCGGTGCTCGGGCTGCTGCTCAAGAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTC
K
CCCTGCATTGCGAGACCAATCTAGACGGCTCGTGTAGCAGCAGCTCGCCGCCGTTGCCAGTGCTGGGGCTCGGGGGCCTGCGGATCAGCTCTGACTCTTC
Celera SNP ID:            hCV8716792
SNP Position Transcript:  1660
SNP Source:               Applera
Population(Allele,Count): african american(G,21|T,17)   caucasian(G,11|T,27)   total(G,32|T,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 144, (A,GCC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(T,-|G,-)   JBIG-allele(G,22|T,895)   total(T,895|G,22)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 144, (S,TCC)   (A,GCC)      144, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:8990):
CGAGGACCGGGACCGCTTCACCCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCG
K
TGCTCGGGCTGCTGCTCAAGAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTCTCCCTGCATTG
Celera SNP ID:            hCV3162589
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(G,27|T,9)   caucasian(G,25|T,15)   total(G,52|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 114, (V,GTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(T,126|G,144)   Chinese(G,26|T,30)   Japanese(T,7|G,11)   African(T,31|G,59)   no_pop(T,5|G,5)      total(G,5|T,5) ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1186, 114, (V,GTG)   (L,TTG)      



Gene Number:                 192
Celera Gene:                 hCG26604 - 104000117072315
Celera Transcript:           hCT2307456 - 104000117072329
Public Transcript Accession: NM_001946
Celera Protein:              hCP1880460 - 197000069413724
Public Protein Accession:    NP_001937
Gene Symbol:                 DUSP6
Protein Name:                dual specificity phosphatase 6;MKP-3;MKP3;PYST1
Celera Genomic Axis:         GA_x5YUV32W46Y(37037359..37042570)
Chromosome:                  Chr12
OMIM number:                 602748
OMIM Information:            DUAL-SPECIFICITY PHOSPHATASE 6;DUSP6


Transcript Sequence (SEQ ID NO:490):
TGTTTCTGCACTCTACATTGTTTTAATGAAAATAAAATGTTATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGC
TTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATAYGTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCA
ACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTGGGCCTTTAAAAGTGGCAAACAAATGCCACACACCGCCTAAAGAAGGGGGGTTGGGGGAG
GGGAGGGTTAAGGCGAACTTGGGTCCAAATGAGTTTGAAGGGAATACAAAGAACGAAAAGTCAGCACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGC
GTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAGKGTGAACTCTCAACAGAAGGAAACATGAGACAACT
GAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCCCGCCGAGCCCGCTGTTGCAGCTTGTTTGCACTGG
GGCTTATCCGGAGCGGAAATTCCTTTCCGTTTTTGTGAATGACAAACTCATTAACAATTCATCAACACAACCTGTTCCAGCCGGCCCGTCCCCACGGCAA
CAGCCCCTTCCGCAGCACGCTCATTGGCTGGCCCGGAGAATGTATCCATTGAGACGCTCGCTGTTTGTATCCATTGAGGAGCTGCCTCGCGCAGGGGGTG
TGCGAGGCTGAGTCCAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAG
AAGCCGCTAGACTTYTTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCA
TTGAGAGAGATTCATTGACACTAAGAGCCAGCGGCTGCAGCTGGGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTC
GGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGCRGCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGG
CACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCTCAGACCCGTGCCCTTCGCGTCGGAAATGGCGATCAGCAAGACGGTGGCGTGGCTCA
ACGAGCAGCTGGAGCTGGGCAACGAGCGGCTGCTGCTGATGGACTGCCGGCCGCAGGAGCTATACGAGTCGTCGCACATCGAGTCGGCCATCAACGTGGC
CATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCAYCCGGCGCTGT
GGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGKTGCTCGGGCTGCTGCTCAAGAAGCTCAAGG
ACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTCKCCCTGCATTGCGAGACCAATCTAGACGGCTCGTGTAGCAG
CAGCTCGCCGCCGTTGCCAGTGCTGGGGCTCGGGGGCCTGCGGATCAGCTCTGACTCTTCCTCGGACATCGAGTCTGACCTTGACCGAGACCCCAATAGT
GCAACAGACTCGGATGGTAGTCCGCTGTCCAACAGCCAGCCTTCCTTCCCAGTGGAGATCTTGCCCTTCCTCTACTTGGGCTGTGCCAAAGACTCCACCA
ACTTGGACGTGTTGGAGGAATTCGGCATCAAGTACATCTTGAACGTCACCCCCAATTTGCCGAATCTCTTTGAGAACGCAGGAGAGTTTAAATACAAGCA
AATCCCCATCTCGGATCACTGGAGCCAAAACCTGTCCCAGTTTTTCCCTGAGGCCATTTCTTTCATAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTG
GTACATTGCTTGGCTGGCATTAGCCGCKCAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGAYGCCTATGACATTGTCA
AAATGAAAAAATCCAACATATCCCCTAACTTCAACTTCATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCCCATGTGACAACAGGGT
TCCAGCACAGCAGCTGTATTTTACCACCCCTTCCAACCAGAATGTATACCAGGTGGACTCTCTGCAATCTACGTGAAAGACCCCACACCCCTCCTTGCTG
GAATGTGTCTGGCCCTTCAGCAGTTTCTCTTGGCAGCATCAGCTGGGCTGCTTTCTTTGTGTGTGGCCCCAGGTTAATACTAACAGAGAGATTTGCTCCA
TTCTCTTTGGAATAACAGGACATGCTGTATAGATACAGGCAGTAGGTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAGGGACTGGGATTCGAGGA
CTTCCAGGCGCATAGGGTAGRACCAAATGATAGGGTAGGAGCATGTGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCATCTGGAACTGACTATATA
ATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCCAAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTTGGAAAARAAAATCTGAT
ACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACAGTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGGGCTTAAAAGAAATTATC
CAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTKTTSTAATCCAAAGGGKAKATTTGCAGCATGCT
TGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAASTCTTTAGTCTTTTTCATGTATTTTCCTCATGATT
TTTTCTCTTTATGTAGTTTGASTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCT
CACTTTAAAAAAARAAAGAATAAAAAAACCTTCAGCTGTGCTAAACAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGTCACCTCAAATGCAATAC
TTTGGGTTGGTTTCTTTCCTTTAAAAAAATTTGTATAAAACTGGAAGTGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGAGAAATGCATTTGATTGT
GAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGTTTWGAGCTGGAATTTATTATAAGAATGTAAAACCTTAAATTATTAATAAATAACT
ATTTTGGCTATTGAAT

Protein Sequence    (SEQ ID NO:1187):
MIDTLRPVPFASEMAISKTVAWLNEQLELGNERLLLMDCRPQELYESSHIESAINVAIPGIMLRRLQKGNLPVRALFTRGEDRDRFTRRCGTDTVVLYDE
SSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEGGFSKFQAEFSLHCETNLDGSCSSSSPPLPVLGLGGLRISSDSSSDIESDLDRDPNSATDSDGSPLS
NSQPSFPVEILPFLYLGCAKDSTNLDVLEEFGIKYILNVTPNLPNLFENAGEFKYKQIPISDHWSQNLSQFFPEAISFIDEARGKNCGVLVHCLAGISRS
VTVTVAYLMQKLNLSMNDAYDIVKMKKSNISPNFNFMGQLLDFERTLGLSSPCDNRVPAQQLYFTTPSNQNVYQVDSLQST


SNP Information

Context             (SEQ ID NO:8991):
TATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGCTTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATA
Y
GTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCAACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTG
Celera SNP ID:            hCV27837517
SNP Position Transcript:  141
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,33)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1187, None



Context             (SEQ ID NO:8992):
GGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTCGGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGC
R
GCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGGCACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCT
Celera SNP ID:            hCV25606791
SNP Position Transcript:  1144
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,34)   total(A,4|G,66)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1187, None



Context             (SEQ ID NO:8993):
ATCAACGTGGCCATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCA
Y
CCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGGTGCTCGGGCTGCTGCTCAAG
Celera SNP ID:            hCV25606792
SNP Position Transcript:  1490
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 87, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 87, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:8994):
AAACCTGTCCCAGTTTTTCCCTGAGGCCATTTCTTTCATAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGC
K
CAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGATGCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAA
Celera SNP ID:            hCV25606793
SNP Position Transcript:  2128
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(G,1|T,35)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 300, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:8995):
ACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGCGTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAG
K
GTGAACTCTCAACAGAAGGAAACATGAGACAACTGAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCC
Celera SNP ID:            hCV27831612
SNP Position Transcript:  466
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,22)   caucasian(T,32)   total(G,2|T,54)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1187, None

SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,27)   caucasian(T,34)   total(G,3|T,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1187, None



Context             (SEQ ID NO:8996):
CAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAGAAGCCGCTAGACTT
Y
TTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCATTGAGAGAGATTCAT
Celera SNP ID:            hCV27839371
SNP Position Transcript:  915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,28)   total(C,1|T,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1187, None



Context             (SEQ ID NO:8997):
TAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAA
R
AAAGAATAAAAAAACCTTCAGCTGTGCTAAACAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGTCACCTCAAATGCAATACTTTGGGTTGGTTTC
Celera SNP ID:            hCV8716753
SNP Position Transcript:  3214
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:8998):
CATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGA
S
TATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAAGAAAGAATA
Celera SNP ID:            hCV8716754
SNP Position Transcript:  3122
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:8999):
TTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGGTA
K
ATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTA
Celera SNP ID:            hCV8716762
SNP Position Transcript:  2986
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9000):
TTTTTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCT
K
TTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTC
Celera SNP ID:            hCV8716771
SNP Position Transcript:  2968
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9001):
CTTTTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAA
S
TCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAG
Celera SNP ID:            hCV8716755
SNP Position Transcript:  3066
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9002):
GCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGG
K
ATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATG
Celera SNP ID:            hCV8716763
SNP Position Transcript:  2984
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9003):
CTGACTATATAATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCCAAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTTGGAAAA
R
AAAATCTGATACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACAGTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGGGCTTAAA
Celera SNP ID:            hCV8716772
SNP Position Transcript:  2790
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9004):
TTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTT
S
TAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTT
Celera SNP ID:            hCV8716764
SNP Position Transcript:  2971
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9005):
CATGCTGTATAGATACAGGCAGTAGGTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAGGGACTGGGATTCGAGGACTTCCAGGCGCATAGGGTAG
R
ACCAAATGATAGGGTAGGAGCATGTGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCATCTGGAACTGACTATATAATTGTCTTCAATGAAGACTAA
Celera SNP ID:            hCV8716773
SNP Position Transcript:  2621
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9006):
TGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGAGAAATGCATTTGATTGTGAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGTTT
W
GAGCTGGAATTTATTATAAGAATGTAAAACCTTAAATTATTAATAAATAACTATTTTGGCTATTGAAT
Celera SNP ID:            hCV8716749
SNP Position Transcript:  3448
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1187, None   



Context             (SEQ ID NO:9007):
AGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGCTCAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGA
Y
GCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAACTTCAACTTCATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCC
Celera SNP ID:            hCV8716782
SNP Position Transcript:  2184
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,34)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1187, 318, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(T,26)   total(C,3|T,55)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1187, 318, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1187, 318, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:9008):
CGGCGAGTCGGTGCTCGGGCTGCTGCTCAAGAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTC
K
CCCTGCATTGCGAGACCAATCTAGACGGCTCGTGTAGCAGCAGCTCGCCGCCGTTGCCAGTGCTGGGGCTCGGGGGCCTGCGGATCAGCTCTGACTCTTC
Celera SNP ID:            hCV8716792
SNP Position Transcript:  1660
SNP Source:               Applera
Population(Allele,Count): african american(G,21|T,17)   caucasian(G,11|T,27)   total(G,32|T,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 144, (A,GCC)   (S,TCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(T,-|G,-)   JBIG-allele(G,22|T,895)   total(T,895|G,22)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 144, (S,TCC)   (A,GCC)      144, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9009):
CGAGGACCGGGACCGCTTCACCCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCG
K
TGCTCGGGCTGCTGCTCAAGAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGGTGGCTTCAGTAAGTTCCAAGCCGAGTTCTCCCTGCATTG
Celera SNP ID:            hCV3162589
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(G,27|T,9)   caucasian(G,25|T,15)   total(G,52|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 114, (V,GTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(T,126|G,144)   Chinese(G,26|T,30)   Japanese(T,7|G,11)   African(T,31|G,59)   no_pop(T,5|G,5)      total(G,5|T,5) ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1187, 114, (V,GTG)   (L,TTG)      



Gene Number:                 192
Celera Gene:                 hCG26604 - 104000117072315
Celera Transcript:           hCT2307454 - 104000117072323
Public Transcript Accession: NM_001946
Celera Protein:              hCP1880458 - 197000069413722
Public Protein Accession:    NP_001937
Gene Symbol:                 DUSP6
Protein Name:                dual specificity phosphatase 6;MKP-3;MKP3;PYST1
Celera Genomic Axis:         GA_x5YUV32W46Y(37036529..37042570)
Chromosome:                  Chr12
OMIM number:                 602748
OMIM Information:            DUAL-SPECIFICITY PHOSPHATASE 6;DUSP6


Transcript Sequence (SEQ ID NO:491):
TGTTTCTGCACTCTACATTGTTTTAATGAAAATAAAATGTTATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGC
TTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATAYGTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCA
ACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTGGGCCTTTAAAAGTGGCAAACAAATGCCACACACCGCCTAAAGAAGGGGGGTTGGGGGAG
GGGAGGGTTAAGGCGAACTTGGGTCCAAATGAGTTTGAAGGGAATACAAAGAACGAAAAGTCAGCACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGC
GTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAGKGTGAACTCTCAACAGAAGGAAACATGAGACAACT
GAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCCCGCCGAGCCCGCTGTTGCAGCTTGTTTGCACTGG
GGCTTATCCGGAGCGGAAATTCCTTTCCGTTTTTGTGAATGACAAACTCATTAACAATTCATCAACACAACCTGTTCCAGCCGGCCCGTCCCCACGGCAA
CAGCCCCTTCCGCAGCACGCTCATTGGCTGGCCCGGAGAATGTATCCATTGAGACGCTCGCTGTTTGTATCCATTGAGGAGCTGCCTCGCGCAGGGGGTG
TGCGAGGCTGAGTCCAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAG
AAGCCGCTAGACTTYTTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCA
TTGAGAGAGATTCATTGACACTAAGAGCCAGCGGCTGCAGCTGGGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTC
GGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGCRGCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGG
CACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCTCAGACCCGTGCCCTTCGCGTCGGAAATGGCGATCAGCAAGACGGTGGCGTGGCTCA
ACGAGCAGCTGGAGCTGGGCAACGAGCGGCTGCTGCTGATGGACTGCCGGCCGCAGGAGCTATACGAGTCGTCGCACATCGAGTCGGCCATCAACGTGGC
CATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCAYCCGGCGCTGT
GGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGKTGCTCGGGCTGCTGCTCAAGAAGCTCAAGG
ACGAGGGCTGCCGGGCGTTCTACCTGGAAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGCKCAGTCACTGT
GACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGAYGCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAACTTCAACTTC
ATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCCCATGTGACAACAGGGTTCCAGCACAGCAGCTGTATTTTACCACCCCTTCCAACC
AGAATGTATACCAGGTGGACTCTCTGCAATCTACGTGAAAGACCCCACACCCCTCCTTGCTGGAATGTGTCTGGCCCTTCAGCAGTTTCTCTTGGCAGCA
TCAGCTGGGCTGCTTTCTTTGTGTGTGGCCCCAGGTGTCAAAATGACACCAGCTGTCTGTACTAGACAAGGTTACCAAGTGCGGAATTGGTTAATACTAA
CAGAGAGATTTGCTCCATTCTCTTTGGAATAACAGGACATGCTGTATAGATACAGGCAGTAGGTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAG
GGACTGGGATTCGAGGACTTCCAGGCGCATAGGGTAGRACCAAATGATAGGGTAGGAGCATGTGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCAT
CTGGAACTGACTATATAATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCCAAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTT
GGAAAARAAAATCTGATACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACAGTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGG
GCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTKTTSTAATCCAAAGGG
KAKATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAASTCTTTAGTCTTTTTCAT
GTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGASTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAG
ACACCAAATCATGGGCTCACTTTAAAAAAARAAAGAATAAAAAAACCTTCAGCTGTGCTAAACAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGT
CACCTCAAATGCAATACTTTGGGTTGGTTTCTTTCCTTTAAAAAAATTTGTATAAAACTGGAAGTGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGA
GAAATGCATTTGATTGTGAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGTTTWGAGCTGGAATTTATTATAAGAATGTAAAACCTTAA
ATTATTAATAAATAACTATTTTGGCTATTGAATGTGTGTTTTTAAAAACTCAGTTATACCTATGTGTGAAGTGACACATTTTAGAACTTTTTCATTCAGG
GATTGATTTTGACTTGTAGGCATAGTAGGGCAAGGTTCTTTTAAGCTTTTCCTAGAAYGTTTTTCAGCAGCAGTTTATGAAATTCATCGTTTGCCACGAA
TAAAGATGACATCCTAGAATGGACCGACTGTACCGTGTATATGAACAATACCTCTTATGAGTATAGTTCCGGCTTAAGATTTTAAAGCCCCTGAAGAAAA
ATGAACCTATAGAGCATAGCTTGCTGAGGAATACAATTTGGATATTAACCACAGAGAGGTGTAGCAGAATACCAAGATGACAGCCACATGTTAACCTCCT
CCCTATCCTTCACTGTCAGGATCTTCTGCTYTATAATGCTGAGATAATGCCAAAGAGGAAGTAGGGATAATTCTTTTTCCAGTCTGTTGTCATGGGCAAT
TCTACCTGCAGATATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCCCTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCA
CYGTGTCAGGATAYGGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCTGTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGT
GGGTCAGAAACCCTTATTGAAACTTGTGGGGATTATTTTAGTTTCTTTTCAAGCTAAAGACTTTATATCTTGCCATTTTTCTTGGGACCTACCCTCTCCT
TACCTCAAATGTAAAAATACACAAACCAAAATAAAAGGCAGGTGTATGGAATCAAAAGAACTA

Protein Sequence    (SEQ ID NO:1188):
MIDTLRPVPFASEMAISKTVAWLNEQLELGNERLLLMDCRPQELYESSHIESAINVAIPGIMLRRLQKGNLPVRALFTRGEDRDRFTRRCGTDTVVLYDE
SSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEDEARGKNCGVLVHCLAGISRSVTVTVAYLMQKLNLSMNDAYDIVKMKKSNISPNFNFMGQLLDFERT
LGLSSPCDNRVPAQQLYFTTPSNQNVYQVDSLQST


SNP Information

Context             (SEQ ID NO:9010):
TATTTTAAGAAAAAAGGTTTTCTTCTGATTTTCTGCACAACCAGACGTTTGTTTGTTTGCTTTAAAATGTTTCAACAAAATCCTGGTTTGTTTCGAAATA
Y
GTTGGATTAGCATTTAACACCTCATCGGTCACTAAAGCCCAGTCAGTTCACCAGCCCCAACACAGCCTCGGCTAAAAGAACATCAGAGCAAACAGAGCTG
Celera SNP ID:            hCV27837517
SNP Position Transcript:  141
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,33)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1188, None



Context             (SEQ ID NO:9011):
GGTGCAGAGAGAACCTCCGGCTTTACTTCTGTCTCGTCTGCCCCAACCGCTAGCCTCGGCTTGGGTAAGGCGAGGCGGAATTAAACCCCGCTCCGAGAGC
R
GCAGCTTCGCGCGCGGTGCGCTCGGCCTATGCCTGCCCCGAGGGGCGTCTGGTAGGCACCCCGCCCTCTCCCGCAGCTCGACCCCCATGATAGATACGCT
Celera SNP ID:            hCV25606791
SNP Position Transcript:  1144
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,34)   total(A,4|G,66)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1188, None



Context             (SEQ ID NO:9012):
ATCAACGTGGCCATCCCGGGCATCATGCTGCGGCGCCTGCAGAAGGGTAACCTGCCGGTGCGCGCGCTCTTCACGCGCGGCGAGGACCGGGACCGCTTCA
Y
CCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCGGTGCTCGGGCTGCTGCTCAAG
Celera SNP ID:            hCV25606792
SNP Position Transcript:  1490
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,33|T,1)   total(C,67|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1188, 87, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1188, 87, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9013):
ATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCCCTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCACCGTGTCAGGATA
Y
GGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCTGTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGTGGGTCAGAAACCCT
Celera SNP ID:            hCV1986660
SNP Position Transcript:  3714
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,8)      total(C,3|T,8) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9014):
GAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGC
K
CAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGATGCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAA
Celera SNP ID:            hCV25606793
SNP Position Transcript:  1690
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(G,1|T,35)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1188, 154, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:9015):
ACAAGTTTTCCTAAAGCTAGCTCGCGAACGCAAGCGTCGCGAACAAGGGCTTTTGTGCATGCTAATTGCGCCATTGGTGCGCAAAAGTTCCGACGCGAAG
K
GTGAACTCTCAACAGAAGGAAACATGAGACAACTGAAGTGCCCTGGTTTATGTGCCCTGCTCCTCCTCCGCTGCCGCCTCCCCTTCTTTCTCCTTCCTCC
Celera SNP ID:            hCV27831612
SNP Position Transcript:  466
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,22)   caucasian(T,32)   total(G,2|T,54)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1188, None

SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,27)   caucasian(T,34)   total(G,3|T,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1188, None



Context             (SEQ ID NO:9016):
ATACAATTTGGATATTAACCACAGAGAGGTGTAGCAGAATACCAAGATGACAGCCACATGTTAACCTCCTCCCTATCCTTCACTGTCAGGATCTTCTGCT
Y
TATAATGCTGAGATAATGCCAAAGAGGAAGTAGGGATAATTCTTTTTCCAGTCTGTTGTCATGGGCAATTCTACCTGCAGATATCCTAGTGTGAGAATGC
Celera SNP ID:            hCV1986661
SNP Position Transcript:  3531
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(C,-|T,-)   JBIC-allele(C,39|T,1402)   total(C,39|T,1402)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9017):
CAAGAGATAGCAAATCGAGTCTTAAATAATCCGGGGAGAAAGACGCCCGGGTAGATTTGAGGTGCAGCCTTGGAGGGAGGGATTAGAAGCCGCTAGACTT
Y
TTTTCCTCCCCTCTCAGTAGCACGGAGTCCGAATTAATTGGATTTCATTCACTGGGGAGGAACAAAAACTATCTGGGCAGCTTCATTGAGAGAGATTCAT
Celera SNP ID:            hCV27839371
SNP Position Transcript:  915
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,28)   total(C,1|T,65)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1188, None



Context             (SEQ ID NO:9018):
TAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAA
R
AAAGAATAAAAAAACCTTCAGCTGTGCTAAACAGTATATTACCTCTGTATAAAATTCTTCAGGGAGTGTCACCTCAAATGCAATACTTTGGGTTGGTTTC
Celera SNP ID:            hCV8716753
SNP Position Transcript:  2831
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9019):
TTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGGTA
K
ATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTA
Celera SNP ID:            hCV8716762
SNP Position Transcript:  2603
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9020):
CATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGA
S
TATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAGGGGATAATCTGGGAAAGACACCAAATCATGGGCTCACTTTAAAAAAAGAAAGAATA
Celera SNP ID:            hCV8716754
SNP Position Transcript:  2739
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9021):
TTTTTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCT
K
TTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTC
Celera SNP ID:            hCV8716771
SNP Position Transcript:  2585
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9022):
GCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTTCTAATCCAAAGGG
K
ATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTTAGTCTTTTTCATG
Celera SNP ID:            hCV8716763
SNP Position Transcript:  2601
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9023):
CTTTTCTAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAA
S
TCTTTAGTCTTTTTCATGTATTTTCCTCATGATTTTTTCTCTTTATGTAGTTTGACTATGCCTTACCTTTGTAAATATTTTTGCTTGTGTTGTCGCAAAG
Celera SNP ID:            hCV8716755
SNP Position Transcript:  2683
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9024):
CTGACTATATAATTGTCTTCAATGAAGACTAATTCAATTTTGCATATAGAGGAGCCAAAGAGAGATTTCAGCTCTGTATTTGTGGTATCAGTTTGGAAAA
R
AAAATCTGATACTCCATTTGATTATTGTAAATATTTGATCTTGAATCACTTGACAGTGTTTGTTTGAATTGTGTTTGTTTTTTCCTTTGATGGGCTTAAA
Celera SNP ID:            hCV8716772
SNP Position Transcript:  2407
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9025):
TTTCCTTTGATGGGCTTAAAAGAAATTATCCAAAGGGAGAAAGAGCAGTATGCCACTTCTTAAAACAGAACAAAACAAAAAAAGAAAATTGTGCTCTTTT
S
TAATCCAAAGGGTATATTTGCAGCATGCTTGACTTTACCAATTCTGATGACATCTTTACGGACACTATTATCACTAAGACCTTGTTATGGCGAAGTCTTT
Celera SNP ID:            hCV8716764
SNP Position Transcript:  2588
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9026):
CTACCTGCAGATATCCTAGTGTGAGAATGCTGAATCCAGAATGATGTCTCCACTTTTTCCCCTAGCATGCGCATGGCAAGGCATATCTAAGCTTCCTCAC
Y
GTGTCAGGATATGGCTTTAGAATTTTACATTGGCACTTAGGAGGCAACTTTGTCATCCCTGTTGTAATGTGCTTTTTTGTTTAACTGGCTTGGGATGTGG
Celera SNP ID:            hCV15965878
SNP Position Transcript:  3702
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,19|C,1480)   total(C,1480|T,19) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9027):
ACCTATGTGTGAAGTGACACATTTTAGAACTTTTTCATTCAGGGATTGATTTTGACTTGTAGGCATAGTAGGGCAAGGTTCTTTTAAGCTTTTCCTAGAA
Y
GTTTTTCAGCAGCAGTTTATGAAATTCATCGTTTGCCACGAATAAAGATGACATCCTAGAATGGACCGACTGTACCGTGTATATGAACAATACCTCTTAT
Celera SNP ID:            hCV8716748
SNP Position Transcript:  3258
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9028):
TGTGTGTGTGTGAGCATGGGTACCCATTTGATAAGAGAAATGCATTTGATTGTGAAGAAGGGAGAGTTAAATTCTCCATTATGTTCGTGGTGTAAAGTTT
W
GAGCTGGAATTTATTATAAGAATGTAAAACCTTAAATTATTAATAAATAACTATTTTGGCTATTGAATGTGTGTTTTTAAAAACTCAGTTATACCTATGT
Celera SNP ID:            hCV8716749
SNP Position Transcript:  3065
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9029):
CATGCTGTATAGATACAGGCAGTAGGTTTGCTCTGTACCCATGTGTACAGCCTACCCATGCAGGGACTGGGATTCGAGGACTTCCAGGCGCATAGGGTAG
R
ACCAAATGATAGGGTAGGAGCATGTGTTCTTTAGGGCCTTGTAAGGCTGTTTCCTTTTGCATCTGGAACTGACTATATAATTGTCTTCAATGAAGACTAA
Celera SNP ID:            hCV8716773
SNP Position Transcript:  2238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1188, None   



Context             (SEQ ID NO:9030):
AGAACTGTGGTGTCTTGGTACATTGCTTGGCTGGCATTAGCCGCTCAGTCACTGTGACTGTGGCTTACCTTATGCAGAAGCTCAATCTGTCGATGAACGA
Y
GCCTATGACATTGTCAAAATGAAAAAATCCAACATATCCCCTAACTTCAACTTCATGGGTCAGCTGCTGGACTTCGAGAGGACGCTGGGACTCAGCAGCC
Celera SNP ID:            hCV8716782
SNP Position Transcript:  1746
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,34)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1188, 172, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(T,26)   total(C,3|T,55)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1188, 172, (D,GAC)   (D,GAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1188, 172, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:9031):
CGAGGACCGGGACCGCTTCACCCGGCGCTGTGGCACCGACACAGTGGTGCTCTACGACGAGAGCAGCAGCGACTGGAACGAGAATACGGGCGGCGAGTCG
K
TGCTCGGGCTGCTGCTCAAGAAGCTCAAGGACGAGGGCTGCCGGGCGTTCTACCTGGAAGATGAAGCCCGGGGCAAGAACTGTGGTGTCTTGGTACATTG
Celera SNP ID:            hCV3162589
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(G,27|T,9)   caucasian(G,25|T,15)   total(G,52|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1188, 114, (V,GTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): Caucasian(T,126|G,144)   Chinese(G,26|T,30)   Japanese(T,7|G,11)   African(T,31|G,59)   no_pop(T,5|G,5)      total(G,5|T,5) ;no_pop(T,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1188, 114, (V,GTG)   (L,TTG)      



Gene Number:                 193
Celera Gene:                 hCG26677 - 30000054185227
Celera Transcript:           hCT17809 - 30000054185229
Public Transcript Accession: 
Celera Protein:              hCP42694 - 30000054185228
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VY4T(2333784..2335904)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:492):
AGCACTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAGAAAGAAAAAATTTCTTCTGGTGTGAAAACTCA
CGTTAATAAATGTAAGTGGTGATTTTTTTGATTCTCCATTGCTCCCACAAGAACAGAAAACACACATTAGGGAAAAATCTTATGAATGTAATGAGCATGG
CAAAGTCTTTAGAGTGTCTTYAAGCCTTGGTAACCATGACATAATCCTGGATCCAGATAAACTTTACAAATGTAATGAGTGTGGTAAAGTCTTTAGGAAA
AATTCATACATTGTACAACATCACAGAATTCATATAGGAGAGAAATCTTACAAACGTAATGAATGTGCAAGGTCTTTAATCGCAATTCACATCTTGCAGA
ACATCTGAGAATTCATACTGGAGAGAAACCTTACAAATGTATGGAATGTGGCAAAGTCTTTAGTCGCAATTCACACCTTACAGAGTATTAGTGAGTGAAY
ACAGGACAGAAACCTTACAAATGTAATGAATGCGGCAAGTTCTTTAGTTGCAATTCAAACCTTGCACAAAATCGAAGAATTCATACTGGAGAAAGTCTCA
GAAACAGAATGAATGTGGCAAAATATTTAACGAGTGGTTAGACCTCACTGCCCATCTTGTAATTCATACTGGAGAGAACCTTACAAATGTAAAAAAATTT
GGCAAAGTCTTCAGGTATGAGTTATCCCTTATCAATCATCAGAGAATTCATACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGTAAAGTCTTCAGGA
ATAATTCATACCTTGCATGACATCAGAGAATTCATACCGGAGAGAAACCTTACAAATGTAATGAATGTTACAAGGTCTTTACTCAGAGTTCACACCTTGC
AGAACATTGGATAATTCATACTGGAGAGAAGCCTTACAAATGTAATGAATGTGGCAAAGTTTTTAGCCCGAGACTGAGTTATTTCTTACTGGAGAGAAAC
CTTACAAATWTAATGAATGTTACAAGGTCTTTACTCACAGTTCACACTTTATAGAACATTGGATAATTCATACCAGAGAAAAGCCTTACAAATGTAATGA
ATGTGGCAAAGTTTTTAGTCAACTTTCATACCTTGTATGACATCGAAGAATTCATACTGGAGAGAAGTGTTACAAATATATTGAATGTGGCAAAGCATTT
AGTGACTATTCAGGCCTTATTGCCCATCTTCTAATTCATAGTGGAAAGAAACCTTACAAATGTCATGAACGTGGCAAGGTCTTCAGGCATAGTTTATCCC
TAARCAATCATCAGAGAATTCAYACTGGRGAGAGGCCTTACAAATGTTATGAATGTGGCAAGGTCTTCAATCAAATTGCACACCTTGCACGACATTGGAG
AACTCATACTGGAGAGAAACCTTACAAAAGTAATGAATGTGGTAAGATCTTTAGTCACAATTCACACTTTACAGAACACTGGATAATTCATATGGAAGAG
AAACCTTATAGATGTAATGAATGTGGCAAGGTCTATAGTAGCTATTCATACCTAGCACAATGTTGGAGAATTCATACAGGAGAGAAACTTTACAAATGCA
ATAAATGTGCCAAAGAATTTGGTGGGCATTCAAGCCTCACTACCCATCTGTTAATCCACACTGGAAAGAAACCTTATACATGTAAGGAATGTGATAAGGA
CTTCAGGAACAAGTTCTCCTTAACAATTCATCAGAGAATTCATACTGGAGAGAGACATAAATGTAACGAATGTGGCAGAGCCTTTAATCAAATTTCACAC
CTTGCAAAACATCAGATAGTTCATACTGGAGAGAAATCTTACAAATGTAATTAATATAGCTAAGCATTTAGTGTGCATTCAAGCCTCGCCTTTCATAAAA
TAATCCATAATGCACAGAAACCTTAAAAATGTAGTGAGTGAGACTAGGTTTTTAGACAAAAGTTCCACCTTACAAGTTATCACAGAGTCCATTCTGGAGA
GAAACCTTACAAATATAATGAGTGTGGTAAGGTCTTCACTCAGATTTCACATCTTGCAAATCATCACAGAATCCATACTGAAGAGAAACATTACAAATGC
CATGTATGTGGTAAGGTCTT

Protein Sequence    (SEQ ID NO:1189):
HRRIHTGEKCYKYIECGKAFSDYSGLIAHLLIHSGKKPYKCHERGKVFRHSLSLSNHQRIHTGERPYKCYECGKVFNQIAHLARHWRTHTGEKPYKSNEC
GKIFSHNSHFTEHWIIHMEEKPYRCNECGKVYSSYSYLAQCWRIHTGEKLYKCNKCAKEFGGHSSLTTHLLIHTGKKPYTCKECDKDFRNKFSLTIHQRI
HTGERHKCNECGRAFNQISHLAKHQIVHTGEKSYKCN


SNP Information

Context             (SEQ ID NO:9032):
TTCTAATTCATAGTGGAAAGAAACCTTACAAATGTCATGAACGTGGCAAGGTCTTCAGGCATAGTTTATCCCTAAGCAATCATCAGAGAATTCATACTGG
R
GAGAGGCCTTACAAATGTTATGAATGTGGCAAGGTCTTCAATCAAATTGCACACCTTGCACGACATTGGAGAACTCATACTGGAGAGAAACCTTACAAAA
Celera SNP ID:            hCV11467380
SNP Position Transcript:  1329
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1189, 59, (K,AAG)   (R,AGG)      



Context             (SEQ ID NO:9033):
GATAATTCATACTGGAGAGAAGCCTTACAAATGTAATGAATGTGGCAAAGTTTTTAGCCCGAGACTGAGTTATTTCTTACTGGAGAGAAACCTTACAAAT
W
TAATGAATGTTACAAGGTCTTTACTCACAGTTCACACTTTATAGAACATTGGATAATTCATACCAGAGAAAAGCCTTACAAATGTAATGAATGTGGCAAA
Celera SNP ID:            hCV26639130
SNP Position Transcript:  1010
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1189, None   



Context             (SEQ ID NO:9034):
CCCATCTTCTAATTCATAGTGGAAAGAAACCTTACAAATGTCATGAACGTGGCAAGGTCTTCAGGCATAGTTTATCCCTAAGCAATCATCAGAGAATTCA
Y
ACTGGAGAGAGGCCTTACAAATGTTATGAATGTGGCAAGGTCTTCAATCAAATTGCACACCTTGCACGACATTGGAGAACTCATACTGGAGAGAAACCTT
Celera SNP ID:            hCV11467381
SNP Position Transcript:  1323
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1189, 57, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:9035):
AACATCTGAGAATTCATACTGGAGAGAAACCTTACAAATGTATGGAATGTGGCAAAGTCTTTAGTCGCAATTCACACCTTACAGAGTATTAGTGAGTGAA
Y
ACAGGACAGAAACCTTACAAATGTAATGAATGCGGCAAGTTCTTTAGTTGCAATTCAAACCTTGCACAAAATCGAAGAATTCATACTGGAGAAAGTCTCA
Celera SNP ID:            hCV26639131
SNP Position Transcript:  500
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1189, None   



Context             (SEQ ID NO:9036):
GACTATTCAGGCCTTATTGCCCATCTTCTAATTCATAGTGGAAAGAAACCTTACAAATGTCATGAACGTGGCAAGGTCTTCAGGCATAGTTTATCCCTAA
R
CAATCATCAGAGAATTCATACTGGAGAGAGGCCTTACAAATGTTATGAATGTGGCAAGGTCTTCAATCAAATTGCACACCTTGCACGACATTGGAGAACT
Celera SNP ID:            hCV11467382
SNP Position Transcript:  1304
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1189, 51, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:9037):

A
GCACTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAGAAAGAAAAAATTTCTTCTGGTGTGAAAACTCAC
Celera SNP ID:            hCV26639133
SNP Position Transcript:  1
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|A,12)   total(A,12|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1189, None   



Context             (SEQ ID NO:9038):
GATTTTTTTGATTCTCCATTGCTCCCACAAGAACAGAAAACACACATTAGGGAAAAATCTTATGAATGTAATGAGCATGGCAAAGTCTTTAGAGTGTCTT
Y
AAGCCTTGGTAACCATGACATAATCCTGGATCCAGATAAACTTTACAAATGTAATGAGTGTGGTAAAGTCTTTAGGAAAAATTCATACATTGTACAACAT
Celera SNP ID:            hCV8706960
SNP Position Transcript:  221
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,14)      total(C,3|T,14) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1189, None   



Gene Number:                 194
Celera Gene:                 hCG27243 - 110000085683589
Celera Transcript:           hCT18381 - 110000085683590
Public Transcript Accession: NM_012275
Celera Protein:              hCP42841 - 197000064937336
Public Protein Accession:    NP_036407
Gene Symbol:                 IL1F5
Protein Name:                interleukin 1 family, member 5 (delta);FIL1;FIL1(DELTA);FIL1D;IL-1F5;IL-1RP3;IL1HY1;IL1L1;IL1RP3;MGC29840
Celera Genomic Axis:         GA_x5YUV32VY9Y(623991..629631)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:493):
CGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAAAGGCTGAGGCATCCTTGGAGGAACAGGCAGACTC
CACAGCTCCCGCCAGGAGAAAGGAACATTCTGAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTCCTGAGTGGGGCGCTGTGCTTCCGAATGAAGGAC
TCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTGAAGAGATCAGCGTGGTCCCCA
ATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACT
AGAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCG
GCTGCCTACCCGGGCTGGTTCCTGTGCACSGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCA
CAGACTTCTACTTCCAGCAGTGTGACTAGGGCAAYGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGC
GGACAATCACTCTCTCTGCTCTCAGGACCCCCASGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTT
GGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAAYCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCT
GTGGRGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACMAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCC
TTATAGGGTCAGTAGCTCTCCACATGAAGWCCTSTCACTCACCACTRTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGC
CCCACCYCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGSTGATGTCAGAA
GAAATGGYTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTC
CCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATTTTAATTAAAAGATACCTATTTATATATTTCTTT
ATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTAYCTGTATTT
CCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGYAGACATCATCTCTGATTGTCCTCAG
CCTCCAMTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAWCAGATCTCAGCAAAGCCACTGAGGA
GGAGGCTGTGMTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGG
GATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAATTCACATCCTTCTTGGAATCTCAGTCTGTGAGT
TTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAA
AAGGAGAGGACACAGAGACAGAGGAGAYGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGAT
TGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGAMACCTTAATCTCAGACTTCCA
GCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTAYRGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATC
CCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGACCAATAGAATATGGCAGAAGTGATGGCATGCCAC
TTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGG
AAGCTAGCTKCCATGCTATGAGCAGGCCTATAAAGAGACTTAYGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGA
CTCTGTGAGATAATCRATGTTTGTTGTTTTAAGTTGCTCAGTTTTGGTCTAACTTGTTATGCAGCAATAGATAAATAATATGCAGAGAAAGAGAAACAA

Protein Sequence    (SEQ ID NO:1190):
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTLEPVNIMELYLGAKESKSFTF
YRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD


SNP Information

Context             (SEQ ID NO:9039):
TAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCT
K
CCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGA
Celera SNP ID:            hCV8737829
SNP Position Transcript:  2510
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|G,7)      total(G,7|T,5) ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9040):
GCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTA
Y
GTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGATAATCGATGTTTGTTGTTTTAAGTTGCTCAGTT
Celera SNP ID:            hCV15836405
SNP Position Transcript:  2543
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,7)      total(C,7|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9041):
CAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAA
W
CAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCT
Celera SNP ID:            hCV15824002
SNP Position Transcript:  1675
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9042):
ACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCA
S
GTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGG
Celera SNP ID:            hCV27479354
SNP Position Transcript:  734
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9043):
AAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGA
M
ACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTA
Celera SNP ID:            hCV15824003
SNP Position Transcript:  2180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9044):
TTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGCAGACATCATCTCTGATTGTCCTCAGCCTCCA
M
TTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCT
Celera SNP ID:            hCV27479355
SNP Position Transcript:  1607
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9045):
TAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACT
R
TGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCC
Celera SNP ID:            hCV27466858
SNP Position Transcript:  1047
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9046):
GTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGA
Y
GCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAG
Celera SNP ID:            hCV3252470
SNP Position Transcript:  2028
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,9)      total(C,9|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9047):
CCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGGTGATGTCAGAAGAAATGG
Y
TCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAA
Celera SNP ID:            hCV27466698
SNP Position Transcript:  1208
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9048):
ACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAA
Y
CTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGGGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACT
Celera SNP ID:            hCV16025875
SNP Position Transcript:  851
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9049):
GTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGGGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGAC
M
AGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACTGTGCAGGAG
Celera SNP ID:            hCV16025876
SNP Position Transcript:  955
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9050):
GGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACC
Y
CCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGGTGATGTCAGAAGAAATGG
Celera SNP ID:            hCV16025877
SNP Position Transcript:  1107
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   JBIC-allele(T,361|C,1128)   total(C,1128|T,361) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9051):
TATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTA
Y
CTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGCAGACATCATCTCTGATT
Celera SNP ID:            hCV16025878
SNP Position Transcript:  1492
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9052):
CCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTG
S
TGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCT
Celera SNP ID:            hCV16234851
SNP Position Transcript:  1189
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,361|G,1134)   total(G,1134|C,361)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9053):
GGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTA
Y
AGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTT
Celera SNP ID:            hCV16025879
SNP Position Transcript:  2262
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9054):
CTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAA
Y
GTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACG
Celera SNP ID:            hCV25605460
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None



Context             (SEQ ID NO:9055):
TTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCAC
S
GTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGG
Celera SNP ID:            hCV25605461
SNP Position Transcript:  530
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1190, 123, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:9056):
GATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTAC
R
GCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTG
Celera SNP ID:            hCV16234858
SNP Position Transcript:  2263
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9057):
CTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAACCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGG
R
GGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATA
Celera SNP ID:            hCV11948062
SNP Position Transcript:  905
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): England(A,238|G,343)      total(G,343|A,238) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9058):
TCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCT
S
TCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCAT
Celera SNP ID:            hCV27467450
SNP Position Transcript:  1034
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9059):
TCATTCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAG
W
CCTGTCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTG
Celera SNP ID:            hCV27469128
SNP Position Transcript:  1030
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9060):
CCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTG
M
TGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGC
Celera SNP ID:            hCV8737833
SNP Position Transcript:  1711
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9061):
TTAATTCTGTTAATTTATCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAG
Y
AGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAA
Celera SNP ID:            hCV8737834
SNP Position Transcript:  1575
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Context             (SEQ ID NO:9062):
CTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGATAATC
R
ATGTTTGTTGTTTTAAGTTGCTCAGTTTTGGTCTAACTTGTTATGCAGCAATAGATAAATAATATGCAGAGAAAGAGAAACAA
Celera SNP ID:            hCV8737828
SNP Position Transcript:  2616
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,9)      total(G,9|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1190, None   



Gene Number:                 194
Celera Gene:                 hCG27243 - 110000085683589
Celera Transcript:           hCT1953720 - 110000085683599
Public Transcript Accession: NM_012275
Celera Protein:              hCP1765563 - 197000064937337
Public Protein Accession:    NP_036407
Gene Symbol:                 IL1F5
Protein Name:                interleukin 1 family, member 5 (delta);FIL1;FIL1(DELTA);FIL1D;IL-1F5;IL-1RP3;IL1HY1;IL1L1;IL1RP3;MGC29840
Celera Genomic Axis:         GA_x5YUV32VY9Y(623560..629631)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:494):
TGGCAGGCAGGAAAGACAGAGGAAGGAAGGAGGGAGAAGGGAAGGAGTGAAGGAAGGAGTGAAAAAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTC
CTGAGTGGGGCGCTGTGCTTCCGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGG
TCATTAAAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTC
ATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGG
CGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACSGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGC
TTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAAYGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGC
TCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCASGTCTGACTTAGTGGGCACCTGACCACTTTGTCT
TCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAAYCTTGTAAAAACCATGT
GGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGRGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACMAGTGTTACCCTG
AGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGWCCTSTCACTCACCACTRTGCAGGAGAGGGAGGTGGTC
ATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCYCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCT
TGTTGTGGGCATGAGGAGGTGSTGATGTCAGAAGAAATGGYTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGA
TACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATT
TTAATTAAAAGATACCTATTTATATATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGAT
TTTTCTTTTAATTCTGTTAATTTAYCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTA
AGCAGAGYAGACATCATCTCTGATTGTCCTCAGCCTCCAMTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGA
TCAGGAAWCAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGMTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTG
GTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAA
TTCACATCCTTCTTGGAATCTCAGTCTGTGAGTTTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGAC
CTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGAYGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAG
TTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAA
CGGCTCTGCTGAMACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTAYRGCAG
CTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGAC
CAATAGAATATGGCAGAAGTGATGGCATGCCACTTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGC
CCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTKCCATGCTATGAGCAGGCCTATAAAGAGACTTAYGTGGTAAAAAATGAAGTCTCCTGC
CCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGATAATCRATGTTTGTTGTTTTAAGTTGCTCAGTTTTGGTCTAACTTGTTATGCAGCAA
TAGATAAATAATATGCAGAGAAAGAGAAACAA

Protein Sequence    (SEQ ID NO:1191):
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTLEPVNIMELYLGAKESKSFTF
YRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD


SNP Information

Context             (SEQ ID NO:9063):
TAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCT
K
CCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGA
Celera SNP ID:            hCV8737829
SNP Position Transcript:  2443
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|G,7)      total(G,7|T,5) ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9064):
GCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTA
Y
GTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGATAATCGATGTTTGTTGTTTTAAGTTGCTCAGTT
Celera SNP ID:            hCV15836405
SNP Position Transcript:  2476
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,7)      total(C,7|T,5) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9065):
CAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAA
W
CAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCT
Celera SNP ID:            hCV15824002
SNP Position Transcript:  1608
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9066):
ACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCA
S
GTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGG
Celera SNP ID:            hCV27479354
SNP Position Transcript:  667
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9067):
AAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGA
M
ACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTA
Celera SNP ID:            hCV15824003
SNP Position Transcript:  2113
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9068):
TTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGCAGACATCATCTCTGATTGTCCTCAGCCTCCA
M
TTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCT
Celera SNP ID:            hCV27479355
SNP Position Transcript:  1540
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9069):
TAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACT
R
TGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCC
Celera SNP ID:            hCV27466858
SNP Position Transcript:  980
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9070):
GTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGA
Y
GCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAG
Celera SNP ID:            hCV3252470
SNP Position Transcript:  1961
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,9)      total(C,9|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9071):
CCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGGTGATGTCAGAAGAAATGG
Y
TCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAA
Celera SNP ID:            hCV27466698
SNP Position Transcript:  1141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9072):
ACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAA
Y
CTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGGGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACT
Celera SNP ID:            hCV16025875
SNP Position Transcript:  784
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9073):
GTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGGGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGAC
M
AGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACTGTGCAGGAG
Celera SNP ID:            hCV16025876
SNP Position Transcript:  888
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9074):
GGTCAGTAGCTCTCCACATGAAGTCCTGTCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACC
Y
CCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGGTGATGTCAGAAGAAATGG
Celera SNP ID:            hCV16025877
SNP Position Transcript:  1040
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   JBIC-allele(T,361|C,1128)   total(C,1128|T,361) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9075):
TATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTA
Y
CTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGCAGACATCATCTCTGATT
Celera SNP ID:            hCV16025878
SNP Position Transcript:  1425
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9076):
CCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTG
S
TGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCT
Celera SNP ID:            hCV16234851
SNP Position Transcript:  1122
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)   JBIC-allele(C,361|G,1134)   total(G,1134|C,361)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9077):
GGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTA
Y
AGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTT
Celera SNP ID:            hCV16025879
SNP Position Transcript:  2195
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9078):
CTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAA
Y
GTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACG
Celera SNP ID:            hCV25605460
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None



Context             (SEQ ID NO:9079):
TTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCAC
S
GTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGG
Celera SNP ID:            hCV25605461
SNP Position Transcript:  463
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,40)   total(C,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1191, 123, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:9080):
GATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTAC
R
GCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTG
Celera SNP ID:            hCV16234858
SNP Position Transcript:  2196
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9081):
CTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAACCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGG
R
GGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATA
Celera SNP ID:            hCV11948062
SNP Position Transcript:  838
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): England(A,238|G,343)      total(G,343|A,238) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9082):
TCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGTCCT
S
TCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTGTCAT
Celera SNP ID:            hCV27467450
SNP Position Transcript:  967
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9083):
TCATTCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAG
W
CCTGTCACTCACCACTGTGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCCCCTTCCCTTTAATCCTGCCACTG
Celera SNP ID:            hCV27469128
SNP Position Transcript:  963
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9084):
CCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTG
M
TGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGC
Celera SNP ID:            hCV8737833
SNP Position Transcript:  1644
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9085):
TTAATTCTGTTAATTTATCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAG
Y
AGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAA
Celera SNP ID:            hCV8737834
SNP Position Transcript:  1508
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Context             (SEQ ID NO:9086):
CTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCACATTAGTGAACCTAGAAGCAGAGACTCTGTGAGATAATC
R
ATGTTTGTTGTTTTAAGTTGCTCAGTTTTGGTCTAACTTGTTATGCAGCAATAGATAAATAATATGCAGAGAAAGAGAAACAA
Celera SNP ID:            hCV8737828
SNP Position Transcript:  2549
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,9)      total(G,9|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1191, None   



Gene Number:                 195
Celera Gene:                 hCG27269 - 79000075887605
Celera Transcript:           hCT2321914 - 79000075887614
Public Transcript Accession: NM_000242
Celera Protein:              hCP1864180 - 197000069387314
Public Protein Accession:    NP_000233
Gene Symbol:                 MBL2
Protein Name:                mannose-binding lectin (protein C) 2, soluble (opsonic defect);COLEC1;MBL;MBP;MBP1
Celera Genomic Axis:         GA_x5YUV32VT2P(1984862..1988635)
Chromosome:                  Chr10
OMIM number:                 154545
OMIM Information:            LECTIN, MANNOSE-BINDING, SOLUBLE, 2;MBL2


Transcript Sequence (SEQ ID NO:495):
GGTAAATATGTGTTCATTAACTGAGATTAACCTTCCCTGAGTTTTCTCACACCAAGGTGAGGACCATGTCCCTGTTTCCATCACTCCCTCTCCTTCTCCT
GAGTATGGTGGCAGCGTCTTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAAYGGC
TTCCCAGGCAAAGATGGGYGTGATGRCACCAAGGRAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTC
CAGGAAATCCAGGGCCTTCTGGGTCACCAGGACCAAAGGGCCAAAAAGGAGACCCTGGAAAAAGTCCGGATGGTGATAGTAGCCTGGCTGCCTCAGAAAG
AAAAGCTCTGCAAACAGAAATGGCACGTATCAAAAAGTGGCTSACCTTCTCTCTGGGCAAACAAGTTGGGAACAAGTTCTTCCTGACCAATGGTGAAATA
ATGACCTTTGAAAAAGTGAAGGCCTTGTGTGTCAAGTTCCAGGCCTCTGTGGCCACCCCCAGGAATGCTGCAGAGAATGGAGCCATTCAGAATCTCATCA
AGGAGGAAGCCTTCCTGGGCATCACTGATGAGAAGACAGAAGGGCAGTTTGTGGATCTGACAGGAAATAGACTGACCTACACAAACTGGAACGAGGGTGA
ACCCAACAATGCTGGTTCTGATGAAGATTGTGTATTGCTACTGAAAAATGGCCAGTGGAATGACGTCCCCTGCTCCACCTCCCATCTGGCCGTCTGTGAG
TTCCCTATCTGAAGGGTCATATCACTCAGGCCCTCCTTGTCTTTTTACTGCAACCCACAGGCCCACAGTATGCTTGAAAAGATAAATTATATCAATTTCC
TCATATCCAGTATTGTTCCTTTTGTGGGCAATCACTAAAACAGCAGTAGTAGTCATGCTAATTATATA

Protein Sequence    (SEQ ID NO:1192):
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKS
PDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTG
NRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSHLAVCEFPI


SNP Information

Context             (SEQ ID NO:9087):
GAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGGCGTGATG
R
CACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTCTGGGTCA
Celera SNP ID:            hCV2336609
SNP Position Transcript:  226
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,3|G,37)   total(A,4|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1192, 54, (D,GAC)   (G,GGC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;|anes(A,31|G,214)      total(G,214|A,31);no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1192, 54, (D,GAC)   (G,GGC)      54, (G,GGC)   (D,GAC)      



Context             (SEQ ID NO:9088):
TTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGG
Y
GTGATGGCACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTC
Celera SNP ID:            hCV2336610
SNP Position Transcript:  219
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,36|T,4)   total(C,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1192, 52, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:9089):
AAAAAGGAGACCCTGGAAAAAGTCCGGATGGTGATAGTAGCCTGGCTGCCTCAGAAAGAAAAGCTCTGCAAACAGAAATGGCACGTATCAAAAAGTGGCT
S
ACCTTCTCTCTGGGCAAACAAGTTGGGAACAAGTTCTTCCTGACCAATGGTGAAATAATGACCTTTGAAAAAGTGAAGGCCTTGTGTGTCAAGTTCCAGG
Celera SNP ID:            hCV8743462
SNP Position Transcript:  443
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,7|G,33)   total(C,20|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1192, 126, (L,CTC)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1192, 126, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:9090):
TCCTGAGTATGGTGGCAGCGTCTTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAA
Y
GGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGC
Celera SNP ID:            hCV25605770
SNP Position Transcript:  197
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1192, 44, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9091):
ACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGG
R
AGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTCTGGGTCACCAGGACCA
Celera SNP ID:            hCV2336608
SNP Position Transcript:  235
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,3|G,37)   total(A,14|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1192, 57, (E,GAA)   (G,GGA)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1192, 57, (E,GAA)   (G,GGA)      



Gene Number:                 195
Celera Gene:                 hCG27269 - 79000075887605
Celera Transcript:           hCT18407 - 79000075887606
Public Transcript Accession: NM_000242
Celera Protein:              hCP42869 - 197000069387313
Public Protein Accession:    NP_000233
Gene Symbol:                 MBL2
Protein Name:                mannose-binding lectin (protein C) 2, soluble (opsonic defect);COLEC1;MBL;MBP;MBP1
Celera Genomic Axis:         GA_x5YUV32VT2P(1982315..1988635)
Chromosome:                  Chr10
OMIM number:                 154545
OMIM Information:            LECTIN, MANNOSE-BINDING, SOLUBLE, 2;MBL2


Transcript Sequence (SEQ ID NO:496):
GGTAAATATGTGTTCATTAACTGAGATTAACCTTCCCTGAGTTTTCTCACACCAAGGTGAGGACCATGTCCCTGTTTCCATCACTCCCTCTCCTTCTCCT
GAGTATGGTGGCAGCGTCTTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAAYGGC
TTCCCAGGCAAAGATGGGYGTGATGRCACCAAGGRAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTC
CAGGAAATCCAGGGCCTTCTGGGTCACCAGGACCAAAGGGCCAAAAAGGAGACCCTGGAAAAAGTCCGGATGGTGATAGTAGCCTGGCTGCCTCAGAAAG
AAAAGCTCTGCAAACAGAAATGGCACGTATCAAAAAGTGGCTSACCTTCTCTCTGGGCAAACAAGTTGGGAACAAGTTCTTCCTGACCAATGGTGAAATA
ATGACCTTTGAAAAAGTGAAGGCCTTGTGTGTCAAGTTCCAGGCCTCTGTGGCCACCCCCAGGAATGCTGCAGAGAATGGAGCCATTCAGAATCTCATCA
AGGAGGAAGCCTTCCTGGGCATCACTGATGAGAAGACAGAAGGGCAGTTTGTGGATCTGACAGGAAATAGACTGACCTACACAAACTGGAACGAGGGTGA
ACCCAACAATGCTGGTTCTGATGAAGATTGTGTATTGCTACTGAAAAATGGCCAGTGGAATGACGTCCCCTGCTCCACCTCCCATCTGGCCGTCTGTGAG
TTCCCTATCTGAAGGGTCATATCACTCAGGCCCTCCTTGTCTTTTTACTGCAACCCACAGGCCCACAGTATGCTTGAAAAGATAAATTATATCAATTTCC
TCATATCCAGTATTGTTCCTTTTGTGGGCAATCACTAAAAATGATCACTAACAGCACCAACAAAGCAATAATAGTAGTAGTAGTAGTTAGCAGCAGCAGT
AGTAGTCATGCTAATTATATAATATTTTTAATATATACTATGAGGCCCTATCTTTTGCATCCTACATTAATTATCTAGTTTAATTAATCTGTAATGCTTT
CGATAGTGTTAACTTGCTGCAGTATGAAAATAAGACGGATTTATTTTTCCATTTACAACAAACACCTGTGCTCTGTTGAGCCTTCCTTTCTGTTTGGGTA
GAGGGCTCCCCTAATGACATCACCACAGTTTAATACCACAGCTTTTTACCAAGTTTCAGGTATTAAGAAAATCTATTTTGTAACTTTCTCTATGAACTCT
GTTTTCTTTCTAATGAGATATTAAACCATGTAAAGAACATAAATAACAAATCTCAAGCAAACAGCTTCACAAATTCTCACACACATACATACCTATATAC
TCACTTTCTAGATTAAGATATGGGACATTTTTGACTCCCTAGAAGCCCCGTTATAACTCCTCCTAGTACTAACTCCTAGGAAAATACTATTCTGACCTCC
ATGACTGCACAGTAATTTCGTCTGTTTATAAACATTGTATAGTTGGAATCATATTGTGTGTAATGTTGTATGTCTTGYTTACTCAGAATTAAGTCTGTGA
GATTCATTCATGTCATGTGTACAAAAGTTTCATCCTTTTCATTGCCATGTAGGGTTCCCTTATATTAATATTCCTCAGTTCATCCATTCTATTGTTAATA
GGCACTTAAGTGGCTTCCAATTTTTGGCCATGAGGAAGAGAACCCACGAACATTCCTGGACTTGTCTTTTGGTGGACATGGTGCACTAATTTCACTACCT
ATCCAGGAGTGGAACTGGTAGAGGATGAGGAAAGCATGTATTCAGCTTTAGTAGATATTACCAGTTTTCCTAAGTGATTGTATGAATTTATGCTCCTACC
GGCAATGTGTGGCAGTCCTAGATGCTCTATGTGCTTGTAAAAAGTCRATGTTTTCAGTTCTCTTGATTTTCATTATTCCTGTGGATGTAAAGTGATATTT
CCCCATGGTTTTAATCTGTATTTCCCCAACATGTAATAAGGTTGAACACTTTTTTATATGCTTATTGGGCACTTGGGTATCTTCTTYTGTGAAGTACCCG
TTCACATTTTTGTATTTTGTTTAAATTAGTTAGCCAATATTTTTCTTACTGATTTTTAAGTTATTTTTACATTCTGAATATGTCCTTTTTAATGTGTATT
ACAAATATTTTGCTAGTTTTTGACTTGCTCCTAATGTTGAATTTTGATGAACAAAATTTCCTAATTTTGAGAAAGTCTTATTTATTCATATTTTCTTTCA
AAATTAGTGCTTTTTGTGTCATGTTTAAGAAATTTTTGCCCATCCCAAAATCATAAGATATTTTTCATGATTTTGAAACCATGAAGAGATTTTTCATGAT
TTTGAAATCATGAAGATATTTTTCCATTTTTTTCTAATAGTTTTATTAATAAACATTCTATCTATTCCTGGTAGAATAGATATCCACTTGAGACAGCACT
ATRTAGGAAAGACCATTTTTCCTCCACTGAACTAGGGTGGTGCATTTTTGTAAGTTAGGTAACTGTATGTGTGTGTGTCTGTTTCTGGGCTGTCTATTCT
AGTCTATTTGTTGATGCTTGTGTCAAACAGTACACTATCTTAATTATTGTACATTTATAGTTGTAACTRTAGTCCAGCTTTGTTCTTCTTMAAGTCAAGA
TTTCCATATAAATATTAGAAACAGYTTCTCAATTTCTACAAAATCCTGATGAGGTTTCTACTGGGACCACATTGAGTCTATCAATCAACTTATGCAGAAC
TGGCAACTTACTACTGAATCTCTAATCAATGTTCATCATGTATCGCTTCATKTAACTAGRATTTCTTTAACTTAATTGCTATGTTTTGACATTTTTAGTT
TAAAAACCTTGTATATCTTGTTTTGGTGGTTTTAGTGATTTTAATAATATATTTTAAATATTTTTTCTTTTCTATTGTTGTACACAGAAATACAGTTAAG
TTTTGTGTGTAGTCTTACGATGTTTAGTAAMCTCAATAAGTTTATTTCTTAAATCTAGTAATTTGTAGATTCCTCTGGATTTTGTATATGCATAGTCATG
TAAGCTGAAAATATGGCAATACTTGCTTCTTCCCAATTGCTTTACCTTTTTTCTTACCTTATTGCACTGGTTAGCAACCCCAATACAGAGACCACCAGAK
CAGGTATAGACTCCTGAAAGACAATATAATGAAGTGCTCCAGTCAGGCCTATCTAAACTGGATTCACAGCTCTGTCACTTAATTGCTACATGATCTAGAG
CCAGTTACTTTKTGTTTCAGCCATGTATTTGCAGCTGAGAGAAAATAATCATTCTTATTTCATGAAAATTGTGGGGATGATGAAATAAGTTAACACCTTT
AAAGTGTGTAGTAAAGTATCAGGATACTATATTTTAGGTCTTAATACACACAGTTATGCCGCTAGATACATGCTTTTTAATGAGATAATGTGATATTATA
CATAACACATATCGATTTTTAAAAATTAAATCAACCTTGCTTTGATGGAATAAACTCCATTTAGTCAC

Protein Sequence    (SEQ ID NO:1193):
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKS
PDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTG
NRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSHLAVCEFPI


SNP Information

Context             (SEQ ID NO:9092):
GAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGGCGTGATG
R
CACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTCTGGGTCA
Celera SNP ID:            hCV2336609
SNP Position Transcript:  226
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,3|G,37)   total(A,4|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1193, 54, (D,GAC)   (G,GGC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,8)      total(G,8|A,1) ;|anes(A,31|G,214)      total(G,214|A,31);no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1193, 54, (D,GAC)   (G,GGC)      54, (G,GGC)   (D,GAC)      



Context             (SEQ ID NO:9093):
ACTGGGACCACATTGAGTCTATCAATCAACTTATGCAGAACTGGCAACTTACTACTGAATCTCTAATCAATGTTCATCATGTATCGCTTCATGTAACTAG
R
ATTTCTTTAACTTAATTGCTATGTTTTGACATTTTTAGTTTAAAAACCTTGTATATCTTGTTTTGGTGGTTTTAGTGATTTTAATAATATATTTTAAATA
Celera SNP ID:            hCV16118987
SNP Position Transcript:  2860
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,8)      total(G,2|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9094):
GTAAGCTGAAAATATGGCAATACTTGCTTCTTCCCAATTGCTTTACCTTTTTTCTTACCTTATTGCACTGGTTAGCAACCCCAATACAGAGACCACCAGA
K
CAGGTATAGACTCCTGAAAGACAATATAATGAAGTGCTCCAGTCAGGCCTATCTAAACTGGATTCACAGCTCTGTCACTTAATTGCTACATGATCTAGAG
Celera SNP ID:            hCV16118997
SNP Position Transcript:  3200
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|T,5)      total(G,2|T,5) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9095):
GTGTGTGTGTCTGTTTCTGGGCTGTCTATTCTAGTCTATTTGTTGATGCTTGTGTCAAACAGTACACTATCTTAATTATTGTACATTTATAGTTGTAACT
R
TAGTCCAGCTTTGTTCTTCTTAAAGTCAAGATTTCCATATAAATATTAGAAACAGCTTCTCAATTTCTACAAAATCCTGATGAGGTTTCTACTGGGACCA
Celera SNP ID:            hCV16101523
SNP Position Transcript:  2669
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9096):
TGAAATCATGAAGATATTTTTCCATTTTTTTCTAATAGTTTTATTAATAAACATTCTATCTATTCCTGGTAGAATAGATATCCACTTGAGACAGCACTAT
R
TAGGAAAGACCATTTTTCCTCCACTGAACTAGGGTGGTGCATTTTTGTAAGTTAGGTAACTGTATGTGTGTGTGTCTGTTTCTGGGCTGTCTATTCTAGT
Celera SNP ID:            hCV26813434
SNP Position Transcript:  2503
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,4)   total(G,3|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9097):
TGTCTATTCTAGTCTATTTGTTGATGCTTGTGTCAAACAGTACACTATCTTAATTATTGTACATTTATAGTTGTAACTATAGTCCAGCTTTGTTCTTCTT
M
AAGTCAAGATTTCCATATAAATATTAGAAACAGCTTCTCAATTTCTACAAAATCCTGATGAGGTTTCTACTGGGACCACATTGAGTCTATCAATCAACTT
Celera SNP ID:            hCV16101524
SNP Position Transcript:  2691
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,8)      total(A,8|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9098):
AAACAGTACACTATCTTAATTATTGTACATTTATAGTTGTAACTATAGTCCAGCTTTGTTCTTCTTAAAGTCAAGATTTCCATATAAATATTAGAAACAG
Y
TTCTCAATTTCTACAAAATCCTGATGAGGTTTCTACTGGGACCACATTGAGTCTATCAATCAACTTATGCAGAACTGGCAACTTACTACTGAATCTCTAA
Celera SNP ID:            hCV16148640
SNP Position Transcript:  2725
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,8)      total(C,8|T,2) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9099):
GTAAAGTGATATTTCCCCATGGTTTTAATCTGTATTTCCCCAACATGTAATAAGGTTGAACACTTTTTTATATGCTTATTGGGCACTTGGGTATCTTCTT
Y
TGTGAAGTACCCGTTCACATTTTTGTATTTTGTTTAAATTAGTTAGCCAATATTTTTCTTACTGATTTTTAAGTTATTTTTACATTCTGAATATGTCCTT
Celera SNP ID:            hCV2738898
SNP Position Transcript:  2087
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,13)   total(C,1|T,13) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9100):
TCCTGAAAGACAATATAATGAAGTGCTCCAGTCAGGCCTATCTAAACTGGATTCACAGCTCTGTCACTTAATTGCTACATGATCTAGAGCCAGTTACTTT
K
TGTTTCAGCCATGTATTTGCAGCTGAGAGAAAATAATCATTCTTATTTCATGAAAATTGTGGGGATGATGAAATAAGTTAACACCTTTAAAGTGTGTAGT
Celera SNP ID:            hCV8743460
SNP Position Transcript:  3312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9101):
TTTAGTAGATATTACCAGTTTTCCTAAGTGATTGTATGAATTTATGCTCCTACCGGCAATGTGTGGCAGTCCTAGATGCTCTATGTGCTTGTAAAAAGTC
R
ATGTTTTCAGTTCTCTTGATTTTCATTATTCCTGTGGATGTAAAGTGATATTTCCCCATGGTTTTAATCTGTATTTCCCCAACATGTAATAAGGTTGAAC
Celera SNP ID:            hCV2738899
SNP Position Transcript:  1947
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,13)   total(G,1|A,13) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9102):
TTTAGTGATTTTAATAATATATTTTAAATATTTTTTCTTTTCTATTGTTGTACACAGAAATACAGTTAAGTTTTGTGTGTAGTCTTACGATGTTTAGTAA
M
CTCAATAAGTTTATTTCTTAAATCTAGTAATTTGTAGATTCCTCTGGATTTTGTATATGCATAGTCATGTAAGCTGAAAATATGGCAATACTTGCTTCTT
Celera SNP ID:            hCV15809348
SNP Position Transcript:  3031
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,9)      total(A,9|C,2) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9103):
TTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGG
Y
GTGATGGCACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTC
Celera SNP ID:            hCV2336610
SNP Position Transcript:  219
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,36|T,4)   total(C,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1193, 52, (R,CGT)   (C,TGT)   



Context             (SEQ ID NO:9104):
AGGAAAATACTATTCTGACCTCCATGACTGCACAGTAATTTCGTCTGTTTATAAACATTGTATAGTTGGAATCATATTGTGTGTAATGTTGTATGTCTTG
Y
TTACTCAGAATTAAGTCTGTGAGATTCATTCATGTCATGTGTACAAAAGTTTCATCCTTTTCATTGCCATGTAGGGTTCCCTTATATTAATATTCCTCAG
Celera SNP ID:            hCV8743461
SNP Position Transcript:  1578
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9105):
AAAAAGGAGACCCTGGAAAAAGTCCGGATGGTGATAGTAGCCTGGCTGCCTCAGAAAGAAAAGCTCTGCAAACAGAAATGGCACGTATCAAAAAGTGGCT
S
ACCTTCTCTCTGGGCAAACAAGTTGGGAACAAGTTCTTCCTGACCAATGGTGAAATAATGACCTTTGAAAAAGTGAAGGCCTTGTGTGTCAAGTTCCAGG
Celera SNP ID:            hCV8743462
SNP Position Transcript:  443
SNP Source:               Applera
Population(Allele,Count): african american(C,13|G,25)   caucasian(C,7|G,33)   total(C,20|G,58)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1193, 126, (L,CTC)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1193, 126, (L,CTC)   (L,CTG)      



Context             (SEQ ID NO:9106):
AGGTTTCTACTGGGACCACATTGAGTCTATCAATCAACTTATGCAGAACTGGCAACTTACTACTGAATCTCTAATCAATGTTCATCATGTATCGCTTCAT
K
TAACTAGAATTTCTTTAACTTAATTGCTATGTTTTGACATTTTTAGTTTAAAAACCTTGTATATCTTGTTTTGGTGGTTTTAGTGATTTTAATAATATAT
Celera SNP ID:            hCV16118986
SNP Position Transcript:  2852
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,9)      total(G,9|T,3) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1193, None   



Context             (SEQ ID NO:9107):
ACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAACGGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGG
R
AGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGCCTCCAGGAAATCCAGGGCCTTCTGGGTCACCAGGACCA
Celera SNP ID:            hCV2336608
SNP Position Transcript:  235
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,27)   caucasian(A,3|G,37)   total(A,14|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1193, 57, (E,GAA)   (G,GGA)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1193, 57, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:9108):
TCCTGAGTATGGTGGCAGCGTCTTACTCAGAAACTGTGACCTGTGAGGATGCCCAAAAGACCTGCCCTGCAGTGATTGCCTGTAGCTCTCCAGGCATCAA
Y
GGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGGAACCAGGCCAAGGGCTCAGAGGCTTACAGGGCCCCCCTGGAAAGTTGGGGC
Celera SNP ID:            hCV25605770
SNP Position Transcript:  197
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1193, 44, (N,AAC)   (N,AAT)   



Gene Number:                 196
Celera Gene:                 hCG27350 - 104000116973030
Celera Transcript:           hCT18489 - 104000116973031
Public Transcript Accession: NM_003891
Celera Protein:              hCP43443 - 197000069389610
Public Protein Accession:    NP_003882
Gene Symbol:                 PROZ
Protein Name:                protein Z, vitamin K-dependent plasma glycoprotein;PZ
Celera Genomic Axis:         GA_x5YUV32W8MG(26891805..26905556)
Chromosome:                  Chr13
OMIM number:                 176895
OMIM Information:            PROTEIN Z;PROZ


Transcript Sequence (SEQ ID NO:497):
TGTAGCCCTGTCCCAGCRCTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCAR
TATTTCTCCCGGCCTCCAAAGCAAACGACGTTCTGGTGAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGA
ATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGARAAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATAYAAGGGCGGCTCCCCG
TGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCACCTGCTCCCCCGGCTATGAGGGCAGCAACTGCGAGC
TGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACAGGAATCCTACACRTGCAGCTGTGCTCAGGGCTACAG
GCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCTGAGAAGCGTGCACCGGATCTACAGGACCTCCCGTGG
CAGGTAAAGTTAACAAATTCCGAAGGAAAAGACTTCTGTGGTGGTGTTATAATACGGGAAAATTTTGTACTGACAACAGCAAAATGTTCACTGTTACACA
GGAATATTACTGTAAAAACATATTTTAACAGAACGAGCCAAGACCCGCTGATGATCAAGATAACGCACGTCCATGTGCACATGCGGTATGACGCGGACGC
GGGGGAGAATGACCTGTCACTGCTGGAGCTGGAGTGGCCCATCCAGTGCCCAGGTGCGGGGCTCCCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCAC
CTCCTCATCCCACRCACCAGGGGCCTCCTCAGYGGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCACRCGGCCTGTCACACTTGTGGAGG
GGGAGGAGTGCGGGCAGGTCCTGAATGTGACTGTCACCACCAGGACCTACTGTGAGAGAAGCAGCGTGGCGGCCATGCACTGGATGGATGGAAGTGTGGT
CACCAGAGAACACAGAGGCTCCTGGTTTCTCACGGGGGTCCTGGGCTCGCAGCCAGTAGGAGGGCAGGCTCACATGGTCCTTGTCACCAAGGTCTCCAGG
TACTCACTCTGGTTTAAACAGATCATGAACTAACTGAAACTCAGCTAGCCAGAATGAACAACACAACYGGAAGCGGGATTCCAAGCTGGCACTGCCACTG
TGGAGGGCGCTGAAACTTCATCACACACTGAGAGGCCGTCACAGCCCCAGACCACCCGCTTGGCCCACGCAGCAGCAGAGCCGCCGTTTGCTGGGTTGTT
TACCGAGCACTGTGACCTTTCTTTCCCTGGAACTCTTTATCTCAATAGAGACCTTAAAAGAAAACATGAGATACGTTAAATAATAAAATAAGATAATCTG
TCAGTCAT

Protein Sequence    (SEQ ID NO:1194):
MAGCVPLLQGLVLVLALHRVEPSVFLPASKANDVLVRWKRAGSYLLEELFEGNLEKECYEEICVYEEAREVFENEVVTDEFWRRYKGGSPCISQPCLHNG
SCQDSIWGYTCTCSPGYEGSNCELAKNECHPERTDGCQHFCLPGQESYTCSCAQGYRLGEDHKQCVPHDQCACGVLTSEKRAPDLQDLPWQVKLTNSEGK
DFCGGVIIRENFVLTTAKCSLLHRNITVKTYFNRTSQDPLMIKITHVHVHMRYDADAGENDLSLLELEWPIQCPGAGLPVCTPEKDFAEHLLIPRTRGLL
SGWARNGTDLGNSLTTRPVTLVEGEECGQVLNVTVTTRTYCERSSVAAMHWMDGSVVTREHRGSWFLTGVLGSQPVGGQAHMVLVTKVSRYSLWFKQIMN


SNP Information

Context             (SEQ ID NO:9109):
AGTGGCCCATCCAGTGCCCAGGTGCGGGGCTCCCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCACGCACCAGGGGCCTCCTCAG
Y
GGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCACGCGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGGCAGGTCCTGAATGTGACTG
Celera SNP ID:            hCV15984418
SNP Position Transcript:  933
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26)   total(C,61|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 301, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|C,44)   total(C,44|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 301, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:9110):
GCTCACATGGTCCTTGTCACCAAGGTCTCCAGGTACTCACTCTGGTTTAAACAGATCATGAACTAACTGAAACTCAGCTAGCCAGAATGAACAACACAAC
Y
GGAAGCGGGATTCCAAGCTGGCACTGCCACTGTGGAGGGCGCTGAAACTTCATCACACACTGAGAGGCCGTCACAGCCCCAGACCACCCGCTTGGCCCAC
Celera SNP ID:            hCV15984426
SNP Position Transcript:  1268
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,34)   total(C,65|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1194, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,3|C,45)   total(C,45|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1194, None   



Context             (SEQ ID NO:9111):
CTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCACGCACCAGGGGCCTCCTCAGCGGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCAC
R
CGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGGCAGGTCCTGAATGTGACTGTCACCACCAGGACCTACTGTGAGAGAAGCAGCGTGGCGGCCATGC
Celera SNP ID:            hCV15984419
SNP Position Transcript:  978
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,32)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 316, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,47)   total(G,47|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 316, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:9112):
GAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGA
R
AAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATATAAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCA
Celera SNP ID:            hCV15984427
SNP Position Transcript:  238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1194, 70, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:9113):
TGTAGCCCTGTCCCAGCACTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCA
R
TATTTCTCCCGGCCTCCAAAGCAAACGACGTTCTGGTGAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGA
Celera SNP ID:            hCV11924023
SNP Position Transcript:  100
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1194, 24, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:9114):
GAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGAGAAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATA
Y
AAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCACCTGCTCCCCCGGCTATGAGG
Celera SNP ID:            hCV15984314
SNP Position Transcript:  285
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,34)   total(C,1|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 85, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 85, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9115):
GCTATGAGGGCAGCAACTGCGAGCTGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACAGGAATCCTACAC
R
TGCAGCTGTGCTCAGGGCTACAGGCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCTGAGAAGCGTGCAC
Celera SNP ID:            hCV783080
SNP Position Transcript:  477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,32)   total(G,32|A,8)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1194, 149, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:9116):
TGTAGCCCTGTCCCAGC
R
CTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCAGTATTTCTCCCGGCCTCCA
Celera SNP ID:            hCV1633356
SNP Position Transcript:  18
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,11)   caucasian(A,33|G,5)   total(A,48|G,16)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1194, None

SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,12)   caucasian(A,31|G,3)   total(A,51|G,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1194, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,7)      total(G,6|A,7) ;PGA-AFRICAN-PANEL(G,16|A,32)   PGA-EUR(EAN-PANEL(G,3|A,43)   total(G,19|A,75)   no_pop(A,-|G,-)   JBIC-allele(G,435|A,456)   total(G,435|A,456)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1194, None   



Context             (SEQ ID NO:9117):
CTGTCACTGCTGGAGCTGGAGTGGCCCATCCAGTGCCCAGGTGCGGGGCTCCCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCAC
R
CACCAGGGGCCTCCTCAGCGGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCACGCGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGG
Celera SNP ID:            hCV3046056
SNP Position Transcript:  914
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,2|G,26)   total(A,3|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1194, 295, (H,CAC)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;PGA-AFRICAN-PANEL(A,1|G,47)   PGA-EUR(EAN-PANEL(A,1|G,45)   total(G,92|A,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1194, 295, (H,CAC)   (R,CGC)      



Gene Number:                 196
Celera Gene:                 hCG27350 - 104000116973030
Celera Transcript:           hCT1962324 - 104000116973082
Public Transcript Accession: NM_003891
Celera Protein:              hCP1777685 - 197000069389620
Public Protein Accession:    NP_003882
Gene Symbol:                 PROZ
Protein Name:                protein Z, vitamin K-dependent plasma glycoprotein;PZ
Celera Genomic Axis:         GA_x5YUV32W8MG(26891805..26905436)
Chromosome:                  Chr13
OMIM number:                 176895
OMIM Information:            PROTEIN Z;PROZ


Transcript Sequence (SEQ ID NO:498):
TGTAGCCCTGTCCCAGCRCTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCAR
TATTTCTCCCGGCCTCCAAAGCAAACGACGTTCTGGTGAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGA
ATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGARAAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATAYAAGGGCGGCTCCCCG
TGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCACCTGCTCCCCCGGCTATGAGGGCAGCAACTGCGAGC
TGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACAGGAATCCTACACRTGCAGCTGTGCTCAGGGCTACAG
GCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCTGAGAAGCGTGCACCGGATCTACAGGACCTCCCGTGG
CAGGCCTCTAACACAATTATCTCCTGCCTGAACTGAGGTGCAGCCCTCGTGTCCMCAATGCTCCGTACCCGAGTGTGGCTGCCGTGTGGATGGCACAGCC
TCAGGGGCCCCCCTTGTAAAGTTAACAAATTCCGAAGGAAAAGACTTCTGTGGTGGTGTTATAATACGGGAAAATTTTGTACTGACAACAGCAAAATGTT
CACTGTTACACAGGAATATTACTGCACGTCCATGTGCACATGCGGTATGACGCGGACGCGGGGGAGAATGACCTGTCACTGCTGGAGCTGGAGTGGCCCA
TCCAGTGCCCAGGACCTACTGTGAGAGAAGCAGCGTGGCGGCCATGCACTGGATGGATGGAAGTGTGGTCACCAGAGAACACAGAGGCTCCTGGTTTCTC
ACGGGGGTCCTGGGCTCGCAGCCAGTAGGAGGGCAGGCTCACATGGTCCTTGTCACCAAGGTCTCCAGGTACTCACTCTGGTTTAAACAGATCATGAACT
AACTGAAACTCAGCTAGCCAGAATGAACAACACAACYGGAAGCGGGATTCCAAGCTGGCACTGCCACTGTGGAGGGCGCTGAAACTTCATCACACACTGA
GAGGCCGTCACAGCCCCAGACCACCCGCTTGGCCCACGCAGCAGCAGAGCCGCCGTT

Protein Sequence    (SEQ ID NO:1195):
MAGCVPLLQGLVLVLALHRVEPSVFLPASKANDVLVRWKRAGSYLLEELFEGNLEKECYEEICVYEEAREVFENEVVTDEFWRRYKGGSPCISQPCLHNG
SCQDSIWGYTCTCSPGYEGSNCELAKNECHPERTDGCQHFCLPGQESYTCSCAQGYRLGEDHKQCVPHDQCACGVLTSEKRAPDLQDLPWQASNTIISCL
N


SNP Information

Context             (SEQ ID NO:9118):
GCTCACATGGTCCTTGTCACCAAGGTCTCCAGGTACTCACTCTGGTTTAAACAGATCATGAACTAACTGAAACTCAGCTAGCCAGAATGAACAACACAAC
Y
GGAAGCGGGATTCCAAGCTGGCACTGCCACTGTGGAGGGCGCTGAAACTTCATCACACACTGAGAGGCCGTCACAGCCCCAGACCACCCGCTTGGCCCAC
Celera SNP ID:            hCV15984426
SNP Position Transcript:  1137
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,34)   total(C,65|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1195, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,3|C,45)   total(C,45|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1195, None   



Context             (SEQ ID NO:9119):
GAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGAGAAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATA
Y
AAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCACCTGCTCCCCCGGCTATGAGG
Celera SNP ID:            hCV15984314
SNP Position Transcript:  285
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,34)   total(C,1|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1195, 85, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1195, 85, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9120):
GCTATGAGGGCAGCAACTGCGAGCTGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACAGGAATCCTACAC
R
TGCAGCTGTGCTCAGGGCTACAGGCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCTGAGAAGCGTGCAC
Celera SNP ID:            hCV783080
SNP Position Transcript:  477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,32)   total(G,32|A,8)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1195, 149, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:9121):
GAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGA
R
AAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATATAAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCA
Celera SNP ID:            hCV15984427
SNP Position Transcript:  238
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1195, 70, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:9122):
TGTAGCCCTGTCCCAGC
R
CTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCAGTATTTCTCCCGGCCTCCA
Celera SNP ID:            hCV1633356
SNP Position Transcript:  18
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,11)   caucasian(A,33|G,5)   total(A,48|G,16)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1195, None

SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,12)   caucasian(A,31|G,3)   total(A,51|G,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1195, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,6|A,7)      total(G,6|A,7) ;PGA-AFRICAN-PANEL(G,16|A,32)   PGA-EUR(EAN-PANEL(G,3|A,43)   total(G,19|A,75)   no_pop(A,-|G,-)   JBIC-allele(G,435|A,456)   total(G,435|A,456)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1195, None   



Context             (SEQ ID NO:9123):
TGTAGCCCTGTCCCAGCACTCCGGGTGGGAATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCA
R
TATTTCTCCCGGCCTCCAAAGCAAACGACGTTCTGGTGAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGA
Celera SNP ID:            hCV11924023
SNP Position Transcript:  100
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1195, 24, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:9124):
GCTGACCTCTGAGAAGCGTGCACCGGATCTACAGGACCTCCCGTGGCAGGCCTCTAACACAATTATCTCCTGCCTGAACTGAGGTGCAGCCCTCGTGTCC
M
CAATGCTCCGTACCCGAGTGTGGCTGCCGTGTGGATGGCACAGCCTCAGGGGCCCCCCTTGTAAAGTTAACAAATTCCGAAGGAAAAGACTTCTGTGGTG
Celera SNP ID:            hCV15984448
SNP Position Transcript:  655
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,27|C,1)   total(A,65|C,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1195, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,2|A,44)   total(A,44|C,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1195, None   



Gene Number:                 196
Celera Gene:                 hCG27350 - 104000116973030
Celera Transcript:           hCT2302478 - 104000116973109
Public Transcript Accession: NM_003891
Celera Protein:              hCP1866488 - 197000069389622
Public Protein Accession:    NP_003882
Gene Symbol:                 PROZ
Protein Name:                protein Z, vitamin K-dependent plasma glycoprotein;PZ
Celera Genomic Axis:         GA_x5YUV32W8MG(26891835..26905556)
Chromosome:                  Chr13
OMIM number:                 176895
OMIM Information:            PROTEIN Z;PROZ


Transcript Sequence (SEQ ID NO:499):
ATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCARCCACTTCACTGAAGGAACGACATGGACTCC
ATTCTGACTCTGCCTGCACAGGCGTCCAGGAAAGCTTATTTCTCCCGGCCTCCAAAGCAAACGACGTTCTGGTGAGGTGGAAGCGTGCGGGCTCCTATCT
TCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGARAAGTGTTTGAAAATGAAGTAGTCACT
GATGAATTCTGGAGACGATAYAAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCA
CCTGCTCCCCCGGCTATGAGGGCAGCAACTGCGAGCTGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACA
GGAATCCTACACRTGCAGCTGTGCTCAGGGCTACAGGCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCT
GAGAAGCGTGCACCGGATCTACAGGACCTCCCGTGGCAGGTAAAGTTAACAAATTCCGAAGGAAAAGACTTCTGTGGTGGTGTTATAATACGGGAAAATT
TTGTACTGACAACAGCAAAATGTTCACTGTTACACAGGAATATTACTGTAAAAACATATTTTAACAGAACGAGCCAAGACCCGCTGATGATCAAGATAAC
GCACGTCCATGTGCACATGCGGTATGACGCGGACGCGGGGGAGAATGACCTGTCACTGCTGGAGCTGGAGTGGCCCATCCAGTGCCCAGGTGCGGGGCTC
CCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCACRCACCAGGGGCCTCCTCAGYGGCTGGGCACGCAATGGCACTGACCTGGGCA
ACTCGCTGACCACRCGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGGCAGGTCCTGAATGTGACTGTCACCACCAGGACCTACTGTGAGAGAAGCAG
CGTGGCGGCCATGCACTGGATGGATGGAAGTGTGGTCACCAGAGAACACAGAGGCTCCTGGTTTCTCACGGGGGTCCTGGGCTCGCAGCCAGTAGGAGGG
CAGGCTCACATGGTCCTTGTCACCAAGGTCTCCAGGTACTCACTCTGGTTTAAACAGATCATGAACTAACTGAAACTCAGCTAGCCAGAATGAACAACAC
AACYGGAAGCGGGATTCCAAGCTGGCACTGCCACTGTGGAGGGCGCTGAAACTTCATCACACACTGAGAGGCCGTCACAGCCCCAGACCACCCGCTTGGC
CCACGCAGCAGCAGAGCCGCCGTTTGCTGGGTTGTTTACCGAGCACTGTGACCTTTCTTTCCCTGGAACTCTTTATCTCAATAGAGACCTTAAAAGAAAA
CATGAGATACGTTAAATAATAAAATAAGATAATCTGTCAGTCAT

Protein Sequence    (SEQ ID NO:1196):
MAGCVPLLQGLVLVLALHRVEPSATSLKERHGLHSDSACTGVQESLFLPASKANDVLVRWKRAGSYLLEELFEGNLEKECYEEICVYEEAREVFENEVVT
DEFWRRYKGGSPCISQPCLHNGSCQDSIWGYTCTCSPGYEGSNCELAKNECHPERTDGCQHFCLPGQESYTCSCAQGYRLGEDHKQCVPHDQCACGVLTS
EKRAPDLQDLPWQVKLTNSEGKDFCGGVIIRENFVLTTAKCSLLHRNITVKTYFNRTSQDPLMIKITHVHVHMRYDADAGENDLSLLELEWPIQCPGAGL
PVCTPEKDFAEHLLIPRTRGLLSGWARNGTDLGNSLTTRPVTLVEGEECGQVLNVTVTTRTYCERSSVAAMHWMDGSVVTREHRGSWFLTGVLGSQPVGG
QAHMVLVTKVSRYSLWFKQIMN


SNP Information

Context             (SEQ ID NO:9125):
AGTGGCCCATCCAGTGCCCAGGTGCGGGGCTCCCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCACGCACCAGGGGCCTCCTCAG
Y
GGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCACGCGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGGCAGGTCCTGAATGTGACTG
Celera SNP ID:            hCV15984418
SNP Position Transcript:  969
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,26)   total(C,61|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 323, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,4|C,44)   total(C,44|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 323, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:9126):
GCTCACATGGTCCTTGTCACCAAGGTCTCCAGGTACTCACTCTGGTTTAAACAGATCATGAACTAACTGAAACTCAGCTAGCCAGAATGAACAACACAAC
Y
GGAAGCGGGATTCCAAGCTGGCACTGCCACTGTGGAGGGCGCTGAAACTTCATCACACACTGAGAGGCCGTCACAGCCCCAGACCACCCGCTTGGCCCAC
Celera SNP ID:            hCV15984426
SNP Position Transcript:  1304
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,34)   total(C,65|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1196, None

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,3|C,45)   total(C,45|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1196, None   



Context             (SEQ ID NO:9127):
CTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCACGCACCAGGGGCCTCCTCAGCGGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCAC
R
CGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGGCAGGTCCTGAATGTGACTGTCACCACCAGGACCTACTGTGAGAGAAGCAGCGTGGCGGCCATGC
Celera SNP ID:            hCV15984419
SNP Position Transcript:  1014
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,32)   total(A,1|G,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 338, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,1|G,47)   total(G,47|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 338, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:9128):
GAGGTGGAAGCGTGCGGGCTCCTATCTTCTGGAAGAACTCTTCGAGGGAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGA
R
AAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATATAAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCA
Celera SNP ID:            hCV15984427
SNP Position Transcript:  274
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1196, 92, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:9129):
ATGGCAGGCTGCGTCCCACTGCTCCAGGGCCTGGTCCTGGTCCTCGCCCTCCATCGTGTGGAGCCCTCA
R
CCACTTCACTGAAGGAACGACATGGACTCCATTCTGACTCTGCCTGCACAGGCGTCCAGGAAAGCTTATTTCTCCCGGCCTCCAAAGCAAACGACGTTCT
Celera SNP ID:            hCV11924023
SNP Position Transcript:  70
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1196, 24, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:9130):
GCTATGAGGGCAGCAACTGCGAGCTGGCTAAAAATGAATGTCACCCAGAGCGGACTGATGGGTGTCAACACTTCTGCCTCCCAGGACAGGAATCCTACAC
R
TGCAGCTGTGCTCAGGGCTACAGGCTTGGTGAGGACCACAAACAGTGTGTGCCCCACGACCAGTGTGCCTGCGGGGTGCTGACCTCTGAGAAGCGTGCAC
Celera SNP ID:            hCV783080
SNP Position Transcript:  513
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,32)   total(G,32|A,8)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 171, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:9131):
GAAACTTGGAAAAAGAATGTTATGAAGAAATCTGTGTCTATGAAGAAGCAAGAGAAGTGTTTGAAAATGAAGTAGTCACTGATGAATTCTGGAGACGATA
Y
AAGGGCGGCTCCCCGTGCATCTCCCAGCCCTGCCTCCACAACGGCTCTTGCCAGGACAGCATCTGGGGCTACACCTGCACCTGCTCCCCCGGCTATGAGG
Celera SNP ID:            hCV15984314
SNP Position Transcript:  321
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,34)   total(C,1|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 107, (Y,TAC)   (Y,TAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1196, 107, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9132):
CTGTCACTGCTGGAGCTGGAGTGGCCCATCCAGTGCCCAGGTGCGGGGCTCCCCGTGTGCACCCCTGAGAAAGACTTCGCTGAGCACCTCCTCATCCCAC
R
CACCAGGGGCCTCCTCAGCGGCTGGGCACGCAATGGCACTGACCTGGGCAACTCGCTGACCACGCGGCCTGTCACACTTGTGGAGGGGGAGGAGTGCGGG
Celera SNP ID:            hCV3046056
SNP Position Transcript:  950
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,2|G,26)   total(A,3|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1196, 317, (H,CAC)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;PGA-AFRICAN-PANEL(A,1|G,47)   PGA-EUR(EAN-PANEL(A,1|G,45)   total(G,92|A,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1196, 317, (H,CAC)   (R,CGC)      



Gene Number:                 197
Celera Gene:                 hCG27684 - 63000132612302
Celera Transcript:           hCT19332 - 63000132612316
Public Transcript Accession: NM_006481
Celera Protein:              hCP43696 - 197000064933449
Public Protein Accession:    NP_006472
Gene Symbol:                 TCF2
Protein Name:                transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor;HNF1B;HNF1beta;HNF2;LFB3;MODY5;VHNF1
Celera Genomic Axis:         GA_x5YUV32VTMY(1280478..1296931)
Chromosome:                  Chr17
OMIM number:                 189907
OMIM Information:            TRANSCRIPTION FACTOR 2;TCF2


Transcript Sequence (SEQ ID NO:500):
GTGGCGATCATGGCAAGTTAGAAGTTTTCTGACTCCTTTCGGAGGAGCCTCCGGGACCCCGGGGAGTAACAGGTGTCTGGAGGCTGAAGGGTGGAGGGGT
TCCTGGATTTGGGGTTTGCTTGTGAAACTCCCCTCCACCCTCCTCTCTCGCACCCACCCACCCCCTCACCCCCTTCTTTTTCCGTCCTTGGAAAATGGTG
TCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCAT
YCCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCA
CGCCAAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACCKAGGAG
GCGGCGGAGCAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCC
AGAGGGAGGTGGTCGATGTCACCGGCCTGAACCAGTCGCACCTCYCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTA
CACCTGGTACGTCAGAAAGCAAYGAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTG
CTGTTTCTCTTTCCAGAGTTCAGTCAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGT
TCAAATGGGGGCCCRCGTCCCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAA
CAGGGCAGAATGTTTGCAGYGAGGGGTGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAAC
CGCAGGAAGGAGGAGGCATTCCGGCARAAGCTGGCCATGGACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCC
ACCACCAGCCCAGCTCCTCTCCTCCAAACAAGCTGTCAGGTAAGCAAAGGTTGGGCCTCACTGCCTCGGCAACCCAACCATCCTGGTTCTTGCCACGGAT
CTTATCTGGTTTAAGGGTTTTCAGAGGAGCAAACGCTTTTGAGATGATCCTAGGGCCGCTCTCTCATTGCCAGAATATACTCCCCTGGAAATAATGTGTG
GCTCTGATCAGTTTCCTCCAACTCCTGGTTCAGCCATTGCCCTGTGAGGGCTCACTCGGCTTCCAGGGAGCCCTTTACCCTATTTGTCTCCTTCCCTCTT
CTTCTCCCTGTGTGGCTGCTGACTCAGCGGTCATTCTACACTGAGGAGGCTGCCTTATGGGTGGGCCASATCCAAACCGCAGGCAAACGGGTCGTGATGG
CGTGGCAACCCTCACTGTGTTGGAGGATGGCACTCCGGCCACCTCCTCCATCTCTGGCCATATCCTGCCCCTCGCTCGGTCCGGCTGCCTCAGGAGAAGC
TCAGTAGCCTTTGGGGACGGCCACTCTGTTGGTGGCCTCTGCTTGTTGGCTTCCGTGTGTCATCAGGGTTGGTGGGGGTCAGTCACTTGAAATCTTTGCA
GCAATGAGTTGGGAAAAACTGACCGAGTACCTGCTCCATCATGCTTGATTGAGTGCTCCTGTGTGCTGGGCCCTGGCCTGGATTAGAATGCCTCTGCTGT
GGGCTTTGGGTTTGTCAGGATGGAATCCTACAGCCTCCTYGGGGGAAAGCACACCTCATGCTGAGCGCTGTGTTAGGCACAGGCTGGGATGGAGCACTTC
TTCTGGTCCTTCATTCTTCTGGCAAAGCTGGCTTCCTAGAATGGATGTGCTCACTGGGGTCTGTGTGGTGCCCATGAGGACAAAGTGTAGCAGCCTCCTG
CCTGCTCCAAGAAAAGGGCTTGCGAAAGGAAAGCCAAACACTGTTTCTAACTCAGGGGTGATTCTGAAACCTGTTGGCTCCCCTCACCTGTCGGTTGCCC
TTCTGATGAGAAAGGCCTGAGGGCTGGGGGCTGACCCAAGTGTTGAGGGGACCAAAGCCACCAAGACAGGCTCGGAGCCATCAGCTGGGTGGTGTACAAG
CATTTGTTCCATGCCTGCTGTGCCCTCCCATAGCACTGCCTCTTCCAGGGCCTCTGGGAGCCTGACAGTGCCCAGCATGAAGGTGGGGCCAGTGCTGGGG
GTTTCTGTAGGTCCCACTCCCACAGAGGRGAGAGGCTCAGCCACACAGGAAGAAAGTCTTGGTTACTTAAGAGGCAGAGAAGCCCCTAGGCAAAGACTGG
CCTGATTGCAGAGTAACTTCGCCCCTTTAGGGAAATTCAAAGCAGGGTTCTGAGGGTTGTGGCAAATGGCACATGGCTGGCACTGAGCAGTACCAGTGTG
CTTGCCCACCACAGCGATCCACGGAGCTGAAGCTGGGAGCTACAGGGGGCGTGGTTGGGGCAAGGGGCATTACTGGGAAGACAATGGCCATTGTGTTGGG
ACCTGTGATCTCCACACCAAAGTCAGGGAGCCTGGAAGCCAAACAAAGGCCCAGCAGCCTTCTGACAAGCAAGGGCTGTGCTGAGGTCACCACGGGGTCG
TTGGTTTAGGCATCCTGTGTGCTGACAGGAGACCCAGAGAGCTAGGGCTGGAGGGACAGGGAGCAGGGCAGAAAACACAGCCTGTGTACTCCTCTGACTG
GAGTCTAGGAAGGGCGTGTCCCATGGGAAGTGGATACTCTGGGGTGCCCCTGAAGTCTGGATCTTTCTAAAAATCTTGTAATGTTAGAATTTGGAGGGAA
TTTGAAGAAAGGAACTGAGGCCCAGAAAGAGGCAGTGATTTGCCAAAGTGACACAGAGCAATGGTAGCAAAACAAGGACTAGAGCTCAGGCCTGCTGGTT
CCCACTCCATACTTTCCCACAGCACTACGATGTGTTGAATGCTTACCAAGTCCTGGGAATATGCTAGTGATGTACGAGCTGCGCGTCCTGCCCTCTGGGA
GGTTACTGTCTGGTAGGAAGGATATCGGGTCACTGTCGAGTCCCCAGAACCAGCTGCAGATGGAGGTTTTGTTTGGGGGCTTTGTGGATCTTTCTGCGGT
GTAATAGATCCTATTACTGTTTCTGGAGCAACAGTTATGGGACACTGAATATTATCAGTGGCTGCCTTTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTG
AGAGACAGGGTCTACCTCTGTCACCCGAGCTRGAGTGCAGTGGTGCAGTCTTGGCTCACTRCAGCCTCGAACTCCTGGTCTCWWGCRGTCCTCCTGTCTT
AGCCTCCCAWAGTKCTGGGATTACAGTTGTGAGATTGTGCCCRGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGGTCCTTGTCCCAAGCCC
AGGGACTGGCTTCTCTTTCTCTGAGTGTAGTTATGTATCTGGGTTCTAACCAGTAAGGTTATAACTGTGGCTAATTCACATAACTTCTCTGAGTCTGAAT
TTCCTGCCTACAAAATGGAGAAATAGGACCTTCCACACAGGGTGCATGTGAGGATGAAAGGAGTGAATGTATAAAGACACCTTTCCCGATAACCCATACT
ACCCTCATTATGRCTCTTAACATTAGAGAGGGCTAAACAAGGGCAGTGAGAAGACTGGCAGGCAGCAGAAATCATTTTCTTTTTGATCTCACACACCAGG
GCATTCCCCSTAAGAGGCAGTGAGATGTAGCCTGGCCCTGGAACTAGAAACAGAGGTGGCTGCTGTGCTAGTGCCTGAGATGCACGATGCTGGGGTCAAA
GACTTGTGTCCCCACCTCAGGCTGCCAGGATGGCGTGTGTGCCGTGACAGGGCTCCCGAGTCATGCACTCAGGCAGACAGCAGGCTGGAGCCCAGCATTC
AGGGGTGGCTTCTGTCTGTAGAGCCGCATGGCACTCTTCCCACCTCAGTGCCCACAGCCAAGGTAGGGTCACTAACCAAGCCAGAAACGTAACTGTGTGC
AGAATACCG

Protein Sequence    (SEQ ID NO:1197):
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNT
EEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQD
QLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGKQRLGLTASATQPSWFLPRILSGLRVFRGANAFEMILGPLSHCQNILPWK


SNP Information

Context             (SEQ ID NO:9133):
AGAGTTCAGTCAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCC
R
CGTCCCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTT
Celera SNP ID:            hCV27528033
SNP Position Transcript:  915
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 241, (T,ACG)   (A,GCG)      



Context             (SEQ ID NO:9134):
CCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCCAGAGGGAGGTGGTCGATGTCACCGGCCTGAACCAGTCGCACCTC
Y
CCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAGCAACGAGAGATCCTCCGACAATTCAA
Celera SNP ID:            hCV27860648
SNP Position Transcript:  645
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 151, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:9135):
CCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTTGCAG
Y
GAGGGGTGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATT
Celera SNP ID:            hCV27860649
SNP Position Transcript:  1020
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 276, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9136):
CGGCCTGAACCAGTCGCACCTCTCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAGCAA
Y
GAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTGCTGTTTCTCTTTCCAGAGTTCAG
Celera SNP ID:            hCV16128
SNP Position Transcript:  723
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 177, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9137):
AGCCCTTTACCCTATTTGTCTCCTTCCCTCTTCTTCTCCCTGTGTGGCTGCTGACTCAGCGGTCATTCTACACTGAGGAGGCTGCCTTATGGGTGGGCCA
S
ATCCAAACCGCAGGCAAACGGGTCGTGATGGCGTGGCAACCCTCACTGTGTTGGAGGATGGCACTCCGGCCACCTCCTCCATCTCTGGCCATATCCTGCC
Celera SNP ID:            hCV2559894
SNP Position Transcript:  1569
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,5)   total(G,5|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9138):
AAATGGAGAAATAGGACCTTCCACACAGGGTGCATGTGAGGATGAAAGGAGTGAATGTATAAAGACACCTTTCCCGATAACCCATACTACCCTCATTATG
R
CTCTTAACATTAGAGAGGGCTAAACAAGGGCAGTGAGAAGACTGGCAGGCAGCAGAAATCATTTTCTTTTTGATCTCACACACCAGGGCATTCCCCCTAA
Celera SNP ID:            hCV2559895
SNP Position Transcript:  3813
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9139):
GTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCTTAGCCTCCCA
W
AGTGCTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGGTCCTTGTCCCAAGCCCAGGGACTGGC
Celera SNP ID:            hCV26657398
SNP Position Transcript:  3510
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9140):
CATAGCACTGCCTCTTCCAGGGCCTCTGGGAGCCTGACAGTGCCCAGCATGAAGGTGGGGCCAGTGCTGGGGGTTTCTGTAGGTCCCACTCCCACAGAGG
R
GAGAGGCTCAGCCACACAGGAAGAAAGTCTTGGTTACTTAAGAGGCAGAGAAGCCCCTAGGCAAAGACTGGCCTGATTGCAGAGTAACTTCGCCCCTTTA
Celera SNP ID:            hCV27493577
SNP Position Transcript:  2429
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,65|A,1422)   total(G,65|A,1422) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9141):
TTTTTTTTTTTTTGAGAGACAGGGTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGC
R
GTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGGTCC
Celera SNP ID:            hCV26657399
SNP Position Transcript:  3487
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9142):
CATGCTTGATTGAGTGCTCCTGTGTGCTGGGCCCTGGCCTGGATTAGAATGCCTCTGCTGTGGGCTTTGGGTTTGTCAGGATGGAATCCTACAGCCTCCT
Y
GGGGGAAAGCACACCTCATGCTGAGCGCTGTGTTAGGCACAGGCTGGGATGGAGCACTTCTTCTGGTCCTTCATTCTTCTGGCAAAGCTGGCTTCCTAGA
Celera SNP ID:            hCV27475839
SNP Position Transcript:  1940
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,636|C,853)   total(C,853|T,636) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9143):
CGGCCACGCCAAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACC
K
AGGAGGCGGCGGAGCAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACAT
Celera SNP ID:            hCV27528271
SNP Position Transcript:  495
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 101, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:9144):
TTTTTTTTTTTTTTTTGAGAGACAGGGTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCA
W
GCAGTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGG
Celera SNP ID:            hCV26657400
SNP Position Transcript:  3484
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9145):
TCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCAT
Y
CCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCAC
Celera SNP ID:            hCV27528442
SNP Position Transcript:  301
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1197, 36, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:9146):
ATGACTCTTAACATTAGAGAGGGCTAAACAAGGGCAGTGAGAAGACTGGCAGGCAGCAGAAATCATTTTCTTTTTGATCTCACACACCAGGGCATTCCCC
S
TAAGAGGCAGTGAGATGTAGCCTGGCCCTGGAACTAGAAACAGAGGTGGCTGCTGTGCTAGTGCCTGAGATGCACGATGCTGGGGTCAAAGACTTGTGTC
Celera SNP ID:            hCV7448676
SNP Position Transcript:  3910
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9147):
TTTTTTTTTTTTTTTTTGAGAGACAGGGTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTC
W
AGCAGTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATG
Celera SNP ID:            hCV26657401
SNP Position Transcript:  3483
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9148):
GTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGATTGTGCCC
R
GCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGGTCCTTGTCCCAAGCCCAGGGACTGGCTTCTCTTTCTCTGAGTGTAGTTATGTATCTGGG
Celera SNP ID:            hCV7448677
SNP Position Transcript:  3543
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,13)      total(G,2|A,13) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9149):
GCTGCCTTTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGACAGGGTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACT
R
CAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTT
Celera SNP ID:            hCV26657402
SNP Position Transcript:  3461
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9150):
ACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCTTAGCCTCCCAAAGT
K
CTGGGATTACAGTTGTGAGATTGTGCCCAGCCCTTCTGCTTTAATTTTCACTCTGGGCTCCTCAACATGGTCCTTGTCCCAAGCCCAGGGACTGGCTTCT
Celera SNP ID:            hCV7448678
SNP Position Transcript:  3514
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|G,13)      total(G,13|T,2) ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9151):
CAGTTATGGGACACTGAATATTATCAGTGGCTGCCTTTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGACAGGGTCTACCTCTGTCACCCGAGCT
R
GAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCTTAGCCTCCCAAAGTGCTGGGATTACAGTTGTGA
Celera SNP ID:            hCV26657403
SNP Position Transcript:  3432
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9152):
GTGTAATAGATCCTATTACTGTTTCTGGAGCAACAGTTATGGGACACTGAATATTATCAGTGGCTGCCTTTCTTCTGTCTTTTTTTTTTTTTTTTTTTTT
T
GAGAGACAGGGTCTACCTCTGTCACCCGAGCTAGAGTGCAGTGGTGCAGTCTTGGCTCACTACAGCCTCGAACTCCTGGTCTCAAGCAGTCCTCCTGTCT
Celera SNP ID:            hCV26657404
SNP Position Transcript:  3399
SNP Source:               Celera
Population(Allele,Count): no_pop(-,2|T,11)   total(T,11|-,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1197, None   



Context             (SEQ ID NO:9153):
TGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATTCCGGCA
R
AAGCTGGCCATGGACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCCACCACCAGCCCAGCTCCTCTCCTCCAA
Celera SNP ID:            hCV25606345
SNP Position Transcript:  1127
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1197, 311, (Q,CAA)   (Q,CAG)   



Gene Number:                 197
Celera Gene:                 hCG27684 - 63000132612302
Celera Transcript:           hCT19333 - 63000132612303
Public Transcript Accession: NM_006481
Celera Protein:              hCP43697 - 197000064933448
Public Protein Accession:    NP_006472
Gene Symbol:                 TCF2
Protein Name:                transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor;HNF1B;HNF1beta;HNF2;LFB3;MODY5;VHNF1
Celera Genomic Axis:         GA_x5YUV32VTMY(1237229..1296931)
Chromosome:                  Chr17
OMIM number:                 189907
OMIM Information:            TRANSCRIPTION FACTOR 2;TCF2


Transcript Sequence (SEQ ID NO:501):
GTGGCGATCATGGCAAGTTAGAAGTTTTCTGACTCCTTTCGGAGGAGCCTCCGGGACCCCGGGGAGTAACAGGTGTCTGGAGGCTGAAGGGTGGAGGGGT
TCCTGGATTTGGGGTTTGCTTGTGAAACTCCCCTCCACCCTCCTCTCTCGCACCCACCCACCCCCTCACCCCCTTCTTTTTCCGTCCTTGGAAAATGGTG
TCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCAT
YCCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCA
CGCCAAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACCKAGGAG
GCGGCGGAGCAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCC
AGAGGGAGGTGGTCGATGTCACCGGCCTGAACCAGTCGCACCTCYCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTA
CACCTGGTACGTCAGAAAGCAAYGAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTG
CTGTTTCTCTTTCCAGAGTTCAGTCAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGT
TCAAATGGGGGCCCRCGTCCCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAA
CAGGGCAGAATGTTTGCAGYGAGGGGTGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAAC
CGCAGGAAGGAGGAGGCATTCCGGCARAAGCTGGCCATGGACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCC
ACCACCAGCCCAGCTCCTCTCCTCCAAACAAGCTGTCAGGAGTGCGCTACAGCCAGCAGGGAAACAATGAGATCACTTCCTCCTCAACAATCAGTCACCA
TGGCAACAGCGCCATGGTGACCAGCCAGTCGGTTTTACAGCAAGTCTCCCCAGCCAGCCTGGACCCAGGCCACAATCTCCTCTCACCTGATGGTAAAATG
ATCTCAGTCTCAGGAGGAGGTTTGCCCCCAGTCAGCACCTTGACGAATATCCACAGCCTCTCCCACCATAATCCCCAGCAATCTCAAAACCTCATCATGA
CACCCCTCTCTGGAGTCATGGCAATTGCACAAAGCCTCAACACCTCCCAAGCACAGAGTGTCCCTGTCATCAACAGTGTGGCCGGCAGSCTGGCAGCCCT
GCAGCCCGTCCAGTTCTCCCAGCAGCTGCACAGCCCTCACCAGCAGCCCCTCATGCAGCAGAGCCCARGCAGCCACATGGCCCAGCAGCCCTTCATGGCA
GCTGTGACTCAGCTGCAGAACTCACACATGTACGCACACAAGCAGGAACCCCCCCAGTATTCCCACACCTCCCGGTTTCCATCTGCAATGGTGGTCACAG
ATACCAGCAGCATCAGTACACTCACCAACATGTCTTCAAGTAAACAGTGTCCTCTACAAGCCTGGTGATGCCCACACACCACTTACTTCGTGCGCAACAA
CAAGGACCCTGTTTTCCACACCATCACCCTCTGGGCAGCTGTCATGGAAAAGCCCAGTGACCTGACMRGCACCTGCGAGAGGTCCCTGCTTACCTGACGG
ACGTCCTGCTGGCACCTCAGACAATCCACTCTCAGGAGGCGCAGCCCGAAGCCCAGTTTCCCTTCTATGCAGTATTGCCACAATGCCTCTCCCACGATGT
CAAGGACTCCTGTCTGTCCTGGAGGTGGGAGACAAGGAACCWCCGAAGAGGAAGCAAGAAAGCCGTACTGTCTATGTTGTGATCCTTCATCGAACAAACT
GATGCGAAAACTTGAATCTGTTACTGAAATGAGGAGAGAAGGACATGTGCTRTTGAACTGAGCCAAACACACTGTAAATATCCACAGACTCCCTCCCCTG
CCCCCATCCCAMATGATCTTGAGATTTCTTTTAAAGAAGTAAATTTGTCCAATGGCTGTAAACTATAAACTACTGTAATTAAGTGCAATTTCCCCTCTGT
GTCCTCTCCCCTCTGCCCTGTATATAATACTAAAGTGTCTATTAGTTTTCTTTGTAAAGGTCAGAGTCAAAATTTCAAAAGTGATCTGTCCCCTCTCCCC
TCATGGAGAAACATCCTAAGTGGGAAGTGAAGCCCCTTGTCCTCTCCCGCGGGCCTGGACACTTATGGGGACAGCATACCTTGGACTGACTACCAGCTAA
CTCCAGTCTCCTGACATTAAGACACACCTCTGGATCCCTGGAGGGGCTGAATGTAGTGTGTCAGAGTAACATGCCAGCTTCCTGTGGGCCAGGAGCTCAG
CCGTGCACTCCCTAAGAAACCCCAGGGCAGGGAAACTGGCTGTTTGATAGCAGAAGAAAAAGTTGCAGTCTCAGAAAGCCTTCCATTAAAASAATTTATT
TTATCACTACCCAGAGTCTCATATTTCTGTCTCTGATACTTTCCCTGCCATGGTTCCACCGAGAACCCCTGGCCCCTGGTCTCCTTGGAATTTTCTGTAT
ACTCCACTGGGATCCTGTAGTGTGTCATCTAGGGGTGTAGAGAGGTGGGTGGCCTTCTCTTGCCGTCATGCTCCCAGTGTCTGTGTAGGCTTTACTGCTG
ATTGAGGTGAAGAAGAGTTGAATSCCCCAGTAAGA

Protein Sequence    (SEQ ID NO:1198):
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNT
EEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQD
QLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG
KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPF
MAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW


SNP Information

Context             (SEQ ID NO:9154):
CAGCCCGAAGCCCAGTTTCCCTTCTATGCAGTATTGCCACAATGCCTCTCCCACGATGTCAAGGACTCCTGTCTGTCCTGGAGGTGGGAGACAAGGAACC
W
CCGAAGAGGAAGCAAGAAAGCCGTACTGTCTATGTTGTGATCCTTCATCGAACAAACTGATGCGAAAACTTGAATCTGTTACTGAAATGAGGAGAGAAGG
Celera SNP ID:            hCV2559947
SNP Position Transcript:  2142
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9155):
AGAGTTCAGTCAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCC
R
CGTCCCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTT
Celera SNP ID:            hCV27528033
SNP Position Transcript:  915
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 241, (T,ACG)   (A,GCG)      



Context             (SEQ ID NO:9156):
CCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCCAGAGGGAGGTGGTCGATGTCACCGGCCTGAACCAGTCGCACCTC
Y
CCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAGCAACGAGAGATCCTCCGACAATTCAA
Celera SNP ID:            hCV27860648
SNP Position Transcript:  645
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 151, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:9157):
CCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTTGCAG
Y
GAGGGGTGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATT
Celera SNP ID:            hCV27860649
SNP Position Transcript:  1020
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 276, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9158):
TTGAATCTGTTACTGAAATGAGGAGAGAAGGACATGTGCTATTGAACTGAGCCAAACACACTGTAAATATCCACAGACTCCCTCCCCTGCCCCCATCCCA
M
ATGATCTTGAGATTTCTTTTAAAGAAGTAAATTTGTCCAATGGCTGTAAACTATAAACTACTGTAATTAAGTGCAATTTCCCCTCTGTGTCCTCTCCCCT
Celera SNP ID:            hCV11415601
SNP Position Transcript:  2312
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9159):
CGGCCTGAACCAGTCGCACCTCTCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAGCAA
Y
GAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTGCTGTTTCTCTTTCCAGAGTTCAG
Celera SNP ID:            hCV16128
SNP Position Transcript:  723
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 177, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9160):
AAGCAAGAAAGCCGTACTGTCTATGTTGTGATCCTTCATCGAACAAACTGATGCGAAAACTTGAATCTGTTACTGAAATGAGGAGAGAAGGACATGTGCT
R
TTGAACTGAGCCAAACACACTGTAAATATCCACAGACTCCCTCCCCTGCCCCCATCCCACATGATCTTGAGATTTCTTTTAAAGAAGTAAATTTGTCCAA
Celera SNP ID:            hCV11415603
SNP Position Transcript:  2252
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9161):
CATCAACAGTGTGGCCGGCAGCCTGGCAGCCCTGCAGCCCGTCCAGTTCTCCCAGCAGCTGCACAGCCCTCACCAGCAGCCCCTCATGCAGCAGAGCCCA
R
GCAGCCACATGGCCCAGCAGCCCTTCATGGCAGCTGTGACTCAGCTGCAGAACTCACACATGTACGCACACAAGCAGGAACCCCCCCAGTATTCCCACAC
Celera SNP ID:            hCV7450621
SNP Position Transcript:  1668
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Scandinavian, non-diabetic without a family history of diabetes(A,3|G,180)      total(G,180|A,3) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 492, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9162):
GGAGCTCAGCCGTGCACTCCCTAAGAAACCCCAGGGCAGGGAAACTGGCTGTTTGATAGCAGAAGAAAAAGTTGCAGTCTCAGAAAGCCTTCCATTAAAA
S
AATTTATTTTATCACTACCCAGAGTCTCATATTTCTGTCTCTGATACTTTCCCTGCCATGGTTCCACCGAGAACCCCTGGCCCCTGGTCTCCTTGGAATT
Celera SNP ID:            hCV7450613
SNP Position Transcript:  2792
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;JBIC-allele(G,346|C,1145)   total(G,346|C,1145)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9163):
ATGCCCACACACCACTTACTTCGTGCGCAACAACAAGGACCCTGTTTTCCACACCATCACCCTCTGGGCAGCTGTCATGGAAAAGCCCAGTGACCTGACC
R
GCACCTGCGAGAGGTCCCTGCTTACCTGACGGACGTCCTGCTGGCACCTCAGACAATCCACTCTCAGGAGGCGCAGCCCGAAGCCCAGTTTCCCTTCTAT
Celera SNP ID:            hCV7450614
SNP Position Transcript:  1968
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Canadian Caucasians(G,6|A,94)   Canadian aboriginal Oji-Cree(G,15|A,100)      total(G,21|A,194) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9164):
CGGCCACGCCAAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACC
K
AGGAGGCGGCGGAGCAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACAT
Celera SNP ID:            hCV27528271
SNP Position Transcript:  495
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 101, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:9165):
TCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCAT
Y
CCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCAC
Celera SNP ID:            hCV27528442
SNP Position Transcript:  301
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 36, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:9166):
TGTCCCCCTCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATTCCGGCA
R
AAGCTGGCCATGGACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCCACCACCAGCCCAGCTCCTCTCCTCCAA
Celera SNP ID:            hCV25606345
SNP Position Transcript:  1127
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1198, 311, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:9167):
GTCATCTAGGGGTGTAGAGAGGTGGGTGGCCTTCTCTTGCCGTCATGCTCCCAGTGTCTGTGTAGGCTTTACTGCTGATTGAGGTGAAGAAGAGTTGAAT
S
CCCCAGTAAGA
Celera SNP ID:            hCV29194704
SNP Position Transcript:  3024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Context             (SEQ ID NO:9168):
ACCTCATCATGACACCCCTCTCTGGAGTCATGGCAATTGCACAAAGCCTCAACACCTCCCAAGCACAGAGTGTCCCTGTCATCAACAGTGTGGCCGGCAG
S
CTGGCAGCCCTGCAGCCCGTCCAGTTCTCCCAGCAGCTGCACAGCCCTCACCAGCAGCCCCTCATGCAGCAGAGCCCAGGCAGCCACATGGCCCAGCAGC
Celera SNP ID:            hCV27860650
SNP Position Transcript:  1589
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1198, 465, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:9169):
GATGCCCACACACCACTTACTTCGTGCGCAACAACAAGGACCCTGTTTTCCACACCATCACCCTCTGGGCAGCTGTCATGGAAAAGCCCAGTGACCTGAC
M
AGCACCTGCGAGAGGTCCCTGCTTACCTGACGGACGTCCTGCTGGCACCTCAGACAATCCACTCTCAGGAGGCGCAGCCCGAAGCCCAGTTTCCCTTCTA
Celera SNP ID:            hCV16172204
SNP Position Transcript:  1967
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1198, None   



Gene Number:                 198
Celera Gene:                 hCG27927 - 79000075466114
Celera Transcript:           hCT19070 - 79000075466115
Public Transcript Accession: NM_003383
Celera Protein:              hCP44871 - 197000069432846
Public Protein Accession:    NP_003374
Gene Symbol:                 VLDLR
Protein Name:                very low density lipoprotein receptor
Celera Genomic Axis:         GA_x5YUV32VTY6(36138491..36171473)
Chromosome:                  Chr9
OMIM number:                 192977
OMIM Information:            VERY LOW DENSITY LIPOPROTEIN RECEPTOR;VLDLR


Transcript Sequence (SEQ ID NO:502):
CTCACCCCGCTCTCCGGCCGCCGCCGGTGCGGGTGCTCCGCTACCGGCTCCTCTCCGTTCTGTGCTCTCTTCTGCTCTCGGCTCCCCACCCCCTCTCCCT
TCCCTCCTCTCCCCTTGCCTCCCCTCCTCTGCAGCGCCTGCATTATTTTCTGCCCGCAGGCTCGGCTTGCACTGCTGCTGCAGCCCGGGGAGGTGGCTGG
GTGGGTGGGGAGGAGACTGTGCAAGTTGTAGGGGAGGGGGTGCCCTCTTCTTCCCCGCTCCCTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTC
CCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCGRACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCG
GGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGGGAGAGCGGCGCCACCGGAACCGGGAGAAAAGCCA
AATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTRTTGACGGCAGTGATGAAAA
GAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAA
GATGGTTCAGATGAAAGCCCAGAACAGTGCCATATGAGAACATGCCGCATACATGAAATCAGCTGTGGCGCCCATTCTACTCAGTGTATCCCAGTGTCCT
GGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTASTCCYGACGAGTTCACCTGCTCCAGTGGCCG
CTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTC
CAGTGCAGCACCTCCTCCTGCATCCCCATCAGCTGGGTATGCGACGATGATGCAGACTGCTCCGACCAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTC
AGCCAGTCATACACACCAAGTGTCCAGCCAGCGAAATCCAGTGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAA
GGATGGCAGTGATGAGGTCAACTGTCCCTCTCGAACTTGCCGACCTGACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAAT
GGTATCCGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATGTCAATCAGTGCTTGGGCCCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCA
TAGATATCAGCAAAGTATGTAACCAGGAGCAGGACTGCAGGGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGG
TGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACRAGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGAT
GAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAACTTAAAAGGCGGTTACAAGTGTGAATGTAGTCGTGGCTATCAAATGGATCTTGCTACTG
GCGTGTGCAAGGCAGTAGGCAAAGAGCCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGT
TGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGCYGATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATT
GATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTGTTGATTGGGTGTACAAGACCATCTACTGGACTGATG
CGGCTTCTAAGACTATTTCAGTAGCTACCCTAGATGGAACCAAGAGGAAGTTCCTGTTTAACTCTGACTTGCGAGAGCCTGCCTCCATAGCTGTGGACCC
ACTGTCTGGCTTTGTTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGAT
ATCCAGTGGCCTAAYGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCC
AAGATCRTAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGA
AGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCARGACATCATTGTCTATCATGAACTTGTA
CAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCACCACAGATTAATGATCACTCTCCAAAAT
ATACCTGTTCCTGTCCCAGTGGGTACAATGTAGAGGAAAATGGCCGAGACTGTCAAAGTACTGCAACTACTGTGACTTACAGTGAGACAAAAGATACGAA
CACAACAGAAATTTCAGCAACTAGTGGACTAGTTCCTGGAGGGATCAATGTGACCACAGCAGTATCAGAGGTCAGTGTTCCCCCAAAAGGGACTTCTGCC
GCATGGGCCATTCTTCCTCTCTTGCTCTTAGTGATGGCAGCAGTAGGTGGCTACTTGATGTGGCGGAATTGGCAACACAAGAACATGAAAAGCATGAACT
TTGACAATCCTGTGTACTTGAAAACCACTGAAGAGGACCTCTCCATAGACATTGGTAGACACAGTGCTTCTGTTGGACACACGTACCCAGCAATATCAGT
TGTAAGCACAGATGATGATCTAGCTTGACTTCTGTGACAAATGTTGACCTTTGAGGTCTAAACAAATAATACCCCCGTCGGAATGGTAACCGAGCCAGCA
GCTGAAGTCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAA
TATTCTTRTCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCAC
TTTCCCTAGAAAGCCATATTCCAGCAGTGAAACTTGTGCTATAGTGTATACCACCTGTACATACATTGTATAGGCCATCTGTAAATATCCCAGAGAACAA
TCACTATTCTTAAGCACTTTGAAAATATTTCTATGTAAATTATTGTAAACTTTTTCAATGGTTGGGACAATGGCAATAGGACAAAACGGGTTACTAAGAT
GAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATGATATCTTTGACCTCAATGGAGGTTTGCAAAGACYGAGTGTTCAAACTACTGTACA
TTTTTTTTCAAGTGCTAAAAAATTAAACCAAGCAGCTTAACCATGGTTTGTGCCTGTTCCTCTAGGATGAACTCCTATCCTGAGTAGTACCAAGTGTTCT
AACTAAATGTGTGAGCTGTAGTTCTTGATGTTGTATAACTAAGCCTGTAATTGGGCTGGTTTCTCTTACACCCTAGCACAGTTAAAAAATGAAGTACTGT
TTAACATTTGCTCCCGAAATATTTCTTACTGTGTAAAAGAAGCTAGCTTAGTCTGTACCTAGAATTCCTCTTGGTTAGAGGAGTGAGTTTCTTTTTTTTC
CATTAACTTGTTTCCTGATCGAGAAA

Protein Sequence    (SEQ ID NO:1199):
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDG
SDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQC
STSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDEC
QNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDD
KVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQP
SGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGINVTTAVSEVSVPPKGTSAAW
AILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA


SNP Information

Context             (SEQ ID NO:9170):
GCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTA
S
TCCCGACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGT
Celera SNP ID:            hCV25608574
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,34)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 155, (T,ACT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,31)   caucasian(G,38)   total(C,1|G,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 155, (T,ACT)   (S,AGT)   



Context             (SEQ ID NO:9171):
GGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTAC
R
AGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGATGAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAA
Celera SNP ID:            hCV11717323
SNP Position Transcript:  1541
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 379, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9172):
GTGTCTACTGGATAGATGGGGAAAATGAAGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCA
R
GACATCATTGTCTATCATGAACTTGTACAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCAC
Celera SNP ID:            hCV11717317
SNP Position Transcript:  2473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1199, 689, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9173):
TGGCCTAACGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATC
R
TAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGAAGCAGTC
Celera SNP ID:            hCV25608586
SNP Position Transcript:  2307
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 634, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:9174):
TTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGATATCCAGTGGCCTAA
Y
GGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATCGTAGGATAG
Celera SNP ID:            hCV11717318
SNP Position Transcript:  2215
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1199, 603, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9175):
CGGAACCGGGAGAAAAGCCAAATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGT
R
TTGACGGCAGTGATGAAAAGAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGA
Celera SNP ID:            hCV11717327
SNP Position Transcript:  581
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,38)   total(A,5|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 59, (I,ATT)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;WIAF-CSNP-P(1(A,3|G,103)   total(G,103|A,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1199, 59, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:9176):
ATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTAGTCC
Y
GACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCC
Celera SNP ID:            hCV16173540
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1199, 156, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:9177):
AGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGTTGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGC
Y
GATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATTGATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTG
Celera SNP ID:            hCV11717319
SNP Position Transcript:  1864
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,38)   total(C,67|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1199, 486, (A,GCC)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1199, 486, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:9178):
CTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTCCCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCG
R
ACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCGGGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCC
Celera SNP ID:            hCV27089654
SNP Position Transcript:  362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1199, None   



Context             (SEQ ID NO:9179):
GGACAAAACGGGTTACTAAGATGAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATGATATCTTTGACCTCAATGGAGGTTTGCAAAGAC
Y
GAGTGTTCAAACTACTGTACATTTTTTTTCAAGTGCTAAAAAATTAAACCAAGCAGCTTAACCATGGTTTGTGCCTGTTCCTCTAGGATGAACTCCTATC
Celera SNP ID:            hCV7589159
SNP Position Transcript:  3579
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1199, None   



Context             (SEQ ID NO:9180):
TCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAATATTCTT
R
TCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCACTTTCCCTA
Celera SNP ID:            hCV11717312
SNP Position Transcript:  3208
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1199, None   



Gene Number:                 198
Celera Gene:                 hCG27927 - 79000075466114
Celera Transcript:           hCT2301922 - 79000075466183
Public Transcript Accession: NM_003383
Celera Protein:              hCP1889585 - 197000069432849
Public Protein Accession:    NP_003374
Gene Symbol:                 VLDLR
Protein Name:                very low density lipoprotein receptor
Celera Genomic Axis:         GA_x5YUV32VTY6(36138872..36171473)
Chromosome:                  Chr9
OMIM number:                 192977
OMIM Information:            VERY LOW DENSITY LIPOPROTEIN RECEPTOR;VLDLR


Transcript Sequence (SEQ ID NO:503):
CTCACCCCGCTCTCCGGCCGCCGCCGGTGCGGGTGCTCCGCTACCGGCTCCTCTCCGTTCTGTGCTCTCTTCTGCTCTCGGCTCCCCACCCCCTCTCCCT
TCCCTCCTCTCCCCTTGCCTCCCCTCCTCTGCAGCGCCTGCATTATTTTCTGCCCGCAGGCTCGGCTTGCACTGCTGCTGCAGCCCGGGGAGGTGGCTGG
GTGGGTGGGGAGGAGACTGTGCAAGTTGTAGGGGAGGGGGTGCCCTCTTCTTCCCCGCTCCCTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTC
CCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCGRACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCG
GGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGGGAGAGCGGCGCCACCGGAACCGGGAGAAAAGCCA
AATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTRTTGACGGCAGTGATGAAAA
GAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAA
GATGGTTCAGATGAAAGCCCAGAACAGTGCCATATGAGAACATGCCGCATACATGAAATCAGCTGTGGCGCCCATTCTACTCAGTGTATCCCAGTGTCCT
GGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTASTCCYGACGAGTTCACCTGCTCCAGTGGCCG
CTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTC
CAGTGCAGCACCTCCTCCTGCATCCCCATCAGCTGGGTATGCGACGATGATGCAGACTGCTCCGACCAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTC
AGCCAGTCATACACACCAAGTGTCCAGCCAGCGAAATCCAGTGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAA
GGATGGCAGTGATGAGGTCAACTGTCCCTCTCGAACTTGCCGACCTGACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAAT
GGTATCCGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATGTCAATCAGTGCTTGGGCCCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCA
TAGATATCAGCAAAGTATGTAACCAGGAGCAGGACTGCAGGGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGG
TGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACRAGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGAT
GAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAACTTAAAAGGCGGTTACAAGTGTGAATGTAGTCGTGGCTATCAAATGGATCTTGCTACTG
GCGTGTGCAAGGCAGTAGGCAAAGAGCCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGT
TGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGCYGATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATT
GATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTGTTGATTGGGTGTACAAGACCATCTACTGGACTGATG
CGGCTTCTAAGACTATTTCAGTAGCTACCCTAGATGGAACCAAGAGGAAGTTCCTGTTTAACTCTGACTTGCGAGAGCCTGCCTCCATAGCTGTGGACCC
ACTGTCTGGCTTTGTTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGAT
ATCCAGTGGCCTAAYGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCC
AAGATCRTAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGA
AGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCARGACATCATTGTCTATCATGAACTTGTA
CAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCACCACAGATTAATGATCACTCTCCAAAAT
ATACCTGTTCCTGTCCCAGTGGGTACAATGTAGAGGAAAATGGCCGAGACTGTCAAAGTACTGCAACTACTGTGACTTACAGTGAGACAAAAGATACGAA
CACAACAGAAATTTCAGCAACTAGTGGACTAGTTCCTGGAGGGATCAATGTGACCACAGCAGTATCAGAGGTCAGTGTTCCCCCAAAAGGGACTTCTGCC
GCATGGGCCATTCTTCCTCTCTTGCTCTTAGTGATGGCAGCAGTAGGTGGCTACTTGATGTGGCGGAATTGGCAACACAAGAACATGAAAAGCATGAACT
TTGACAATCCTGTGTACTTGAAAACCACTGAAGAGGACCTCTCCATAGACATTGGTAGACACAGTGCTTCTGTTGGACACACGTACCCAGCAATATCAGT
TGTAAGCACAGATGATGATCTAGCTTGACTTCTGTGACAAATGTTGACCTTTGAGGTCTAAACAAATAATACCCCCGTCGGAATGGTAACCGAGCCAGCA
GCTGAAGTCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAA
TATTCTTRTCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCAC
TTTCCCTAGAAAGCCATATTCCAGCAGTGAAACTTGTGCTATAGTGTATACCACCTGTACATACATTGTATAGGCCATCTGTAAATATCCCGGACAAAAC
GGGTTACTAAGATGAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATG

Protein Sequence    (SEQ ID NO:1200):
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDG
SDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQC
STSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDEC
QNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDD
KVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQP
SGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGINVTTAVSEVSVPPKGTSAAW
AILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA


SNP Information

Context             (SEQ ID NO:9181):
GCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTA
S
TCCCGACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGT
Celera SNP ID:            hCV25608574
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,34)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 155, (T,ACT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,31)   caucasian(G,38)   total(C,1|G,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 155, (T,ACT)   (S,AGT)   



Context             (SEQ ID NO:9182):
GGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTAC
R
AGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGATGAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAA
Celera SNP ID:            hCV11717323
SNP Position Transcript:  1541
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 379, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9183):
GTGTCTACTGGATAGATGGGGAAAATGAAGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCA
R
GACATCATTGTCTATCATGAACTTGTACAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCAC
Celera SNP ID:            hCV11717317
SNP Position Transcript:  2473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1200, 689, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9184):
TGGCCTAACGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATC
R
TAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGAAGCAGTC
Celera SNP ID:            hCV25608586
SNP Position Transcript:  2307
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 634, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:9185):
TTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGATATCCAGTGGCCTAA
Y
GGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATCGTAGGATAG
Celera SNP ID:            hCV11717318
SNP Position Transcript:  2215
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1200, 603, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9186):
CGGAACCGGGAGAAAAGCCAAATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGT
R
TTGACGGCAGTGATGAAAAGAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGA
Celera SNP ID:            hCV11717327
SNP Position Transcript:  581
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,38)   total(A,5|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 59, (I,ATT)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;WIAF-CSNP-P(1(A,3|G,103)   total(G,103|A,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1200, 59, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:9187):
ATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTAGTCC
Y
GACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCC
Celera SNP ID:            hCV16173540
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1200, 156, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:9188):
AGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGTTGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGC
Y
GATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATTGATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTG
Celera SNP ID:            hCV11717319
SNP Position Transcript:  1864
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,38)   total(C,67|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1200, 486, (A,GCC)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1200, 486, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:9189):
CTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTCCCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCG
R
ACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCGGGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCC
Celera SNP ID:            hCV27089654
SNP Position Transcript:  362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1200, None   



Context             (SEQ ID NO:9190):
TCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAATATTCTT
R
TCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCACTTTCCCTA
Celera SNP ID:            hCV11717312
SNP Position Transcript:  3208
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1200, None   



Gene Number:                 198
Celera Gene:                 hCG27927 - 79000075466114
Celera Transcript:           hCT2301924 - 79000075466160
Public Transcript Accession: NM_003383
Celera Protein:              hCP1889584 - 197000069432848
Public Protein Accession:    NP_003374
Gene Symbol:                 VLDLR
Protein Name:                very low density lipoprotein receptor
Celera Genomic Axis:         GA_x5YUV32VTY6(36138872..36171473)
Chromosome:                  Chr9
OMIM number:                 192977
OMIM Information:            VERY LOW DENSITY LIPOPROTEIN RECEPTOR;VLDLR


Transcript Sequence (SEQ ID NO:504):
CTCACCCCGCTCTCCGGCCGCCGCCGGTGCGGGTGCTCCGCTACCGGCTCCTCTCCGTTCTGTGCTCTCTTCTGCTCTCGGCTCCCCACCCCCTCTCCCT
TCCCTCCTCTCCCCTTGCCTCCCCTCCTCTGCAGCGCCTGCATTATTTTCTGCCCGCAGGCTCGGCTTGCACTGCTGCTGCAGCCCGGGGAGGTGGCTGG
GTGGGTGGGGAGGAGACTGTGCAAGTTGTAGGGGAGGGGGTGCCCTCTTCTTCCCCGCTCCCTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTC
CCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCGRACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCG
GGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGGGAGAGCGGCGCCACCGGAACCGGGAGAAAAGCCA
AATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTRTTGACGGCAGTGATGAAAA
GAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAA
GATGGTTCAGATGAAAGCCCAGAACAGTGCCATATGAGAACATGCCGCATACATGAAATCAGCTGTGGCGCCCATTCTACTCAGTGTATCCCAGTGTCCT
GGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTASTCCYGACGAGTTCACCTGCTCCAGTGGCCG
CTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTC
CAGTGCAGCACCTCCTCCTGCATCCCCATCAGCTGGGTATGCGACGATGATGCAGACTGCTCCGACCAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTC
AGCCAGTCATACACACCAAGTGTCCAGCCAGCGAAATCCAGTGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAA
GGATGGCAGTGATGAGGTCAACTGTCCCTCTCGAACTTGCCGACCTGACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAAT
GGTATCCGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATGTCAATCAGTGCTTGGGCCCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCA
TAGATATCAGCAAAGTATGTAACCAGGAGCAGGACTGCAGGGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGG
TGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACRAGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGAT
GAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAACTTAAAAGGCGGTTACAAGTGTGAATGTAGTCGTGGCTATCAAATGGATCTTGCTACTG
GCGTGTGCAAGGCAGTAGGCAAAGAGCCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGT
TGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGCYGATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATT
GATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTGTTGATTGGGTGTACAAGACCATCTACTGGACTGATG
CGGCTTCTAAGACTATTTCAGTAGCTACCCTAGATGGAACCAAGAGGAAGTTCCTGTTTAACTCTGACTTGCGAGAGCCTGCCTCCATAGCTGTGGACCC
ACTGTCTGGCTTTGTTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGAT
ATCCAGTGGCCTAAYGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCC
AAGATCRTAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGA
AGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCARGACATCATTGTCTATCATGAACTTGTA
CAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCACCACAGATTAATGATCACTCTCCAAAAT
ATACCTGTTCCTGTCCCAGTGGGTACAATGTAGAGGAAAATGGCCGAGACTGTCAAAGGATCAATGTGACCACAGCAGTATCAGAGGTCAGTGTTCCCCC
AAAAGGGACTTCTGCCGCATGGGCCATTCTTCCTCTCTTGCTCTTAGTGATGGCAGCAGTAGGTGGCTACTTGATGTGGCGGAATTGGCAACACAAGAAC
ATGAAAAGCATGAACTTTGACAATCCTGTGTACTTGAAAACCACTGAAGAGGACCTCTCCATAGACATTGGTAGACACAGTGCTTCTGTTGGACACACGT
ACCCAGCAATATCAGTTGTAAGCACAGATGATGATCTAGCTTGACTTCTGTGACAAATGTTGACCTTTGAGGTCTAAACAAATAATACCCCCGTCGGAAT
GGTAACCGAGCCAGCAGCTGAAGTCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTT
ATATTACTTTTGTAAATATTCTTRTCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCT
CTGGCCAAATATGCACTTTCCCTAGAAAGCCATATTCCAGCAGTGAAACTTGTGCTATAGTGTATACCACCTGTACATACATTGTATAGGCCATCTGTAA
ATATCCCGGACAAAACGGGTTACTAAGATGAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATG

Protein Sequence    (SEQ ID NO:1201):
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDG
SDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQC
STSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDEC
QNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDD
KVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQP
SGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQRINVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMK
SMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA


SNP Information

Context             (SEQ ID NO:9191):
GCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTA
S
TCCCGACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGT
Celera SNP ID:            hCV25608574
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,34)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 155, (T,ACT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,31)   caucasian(G,38)   total(C,1|G,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 155, (T,ACT)   (S,AGT)   



Context             (SEQ ID NO:9192):
GGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTAC
R
AGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGATGAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAA
Celera SNP ID:            hCV11717323
SNP Position Transcript:  1541
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 379, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9193):
GTGTCTACTGGATAGATGGGGAAAATGAAGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCA
R
GACATCATTGTCTATCATGAACTTGTACAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCAC
Celera SNP ID:            hCV11717317
SNP Position Transcript:  2473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1201, 689, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9194):
TGGCCTAACGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATC
R
TAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGAAGCAGTC
Celera SNP ID:            hCV25608586
SNP Position Transcript:  2307
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 634, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:9195):
TTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGATATCCAGTGGCCTAA
Y
GGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATCGTAGGATAG
Celera SNP ID:            hCV11717318
SNP Position Transcript:  2215
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1201, 603, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9196):
CGGAACCGGGAGAAAAGCCAAATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGT
R
TTGACGGCAGTGATGAAAAGAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGA
Celera SNP ID:            hCV11717327
SNP Position Transcript:  581
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,38)   total(A,5|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 59, (I,ATT)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;WIAF-CSNP-P(1(A,3|G,103)   total(G,103|A,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1201, 59, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:9197):
ATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTAGTCC
Y
GACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCC
Celera SNP ID:            hCV16173540
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1201, 156, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:9198):
AGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGTTGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGC
Y
GATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATTGATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTG
Celera SNP ID:            hCV11717319
SNP Position Transcript:  1864
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,38)   total(C,67|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1201, 486, (A,GCC)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1201, 486, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:9199):
CTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTCCCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCG
R
ACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCGGGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCC
Celera SNP ID:            hCV27089654
SNP Position Transcript:  362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1201, None   



Context             (SEQ ID NO:9200):
TCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAATATTCTT
R
TCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCACTTTCCCTA
Celera SNP ID:            hCV11717312
SNP Position Transcript:  3124
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1201, None   



Gene Number:                 198
Celera Gene:                 hCG27927 - 79000075466114
Celera Transcript:           hCT1958431 - 79000075466138
Public Transcript Accession: NM_003383
Celera Protein:              hCP1765746 - 197000069432847
Public Protein Accession:    NP_003374
Gene Symbol:                 VLDLR
Protein Name:                very low density lipoprotein receptor
Celera Genomic Axis:         GA_x5YUV32VTY6(36138491..36171473)
Chromosome:                  Chr9
OMIM number:                 192977
OMIM Information:            VERY LOW DENSITY LIPOPROTEIN RECEPTOR;VLDLR


Transcript Sequence (SEQ ID NO:505):
CTCACCCCGCTCTCCGGCCGCCGCCGGTGCGGGTGCTCCGCTACCGGCTCCTCTCCGTTCTGTGCTCTCTTCTGCTCTCGGCTCCCCACCCCCTCTCCCT
TCCCTCCTCTCCCCTTGCCTCCCCTCCTCTGCAGCGCCTGCATTATTTTCTGCCCGCAGGCTCGGCTTGCACTGCTGCTGCAGCCCGGGGAGGTGGCTGG
GTGGGTGGGGAGGAGACTGTGCAAGTTGTAGGGGAGGGGGTGCCCTCTTCTTCCCCGCTCCCTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTC
CCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCGRACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCG
GGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGGGAGAGCGGCGCCACCGGAACCGGGAGAAAAGCCA
AATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTRTTGACGGCAGTGATGAAAA
GAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAA
GATGGTTCAGATGAAAGCCCAGAACAGTGCCATATGAGAACATGCCGCATACATGAAATCAGCTGTGGCGCCCATTCTACTCAGTGTATCCCAGTGTCCT
GGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTASTCCYGACGAGTTCACCTGCTCCAGTGGCCG
CTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTC
CAGTGCAGCACCTCCTCCTGCATCCCCATCAGCTGGGTATGCGACGATGATGCAGACTGCTCCGACCAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTC
AGCCAGTCATACACACCAAGTGTCCAGCCAGCGAAATCCAGTGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAA
GGATGGCAGTGATGAGGTCAACTGTCCCTCTCGAACTTGCCGACCTGACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAAT
GGTATCCGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATGTCAATCAGTGCTTGGGCCCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCA
TAGATATCAGCAAAGTATGTAACCAGGAGCAGGACTGCAGGGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGG
TGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACRAGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGAT
GAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAACTTAAAAGGCGGTTACAAGTGTGAATGTAGTCGTGGCTATCAAATGGATCTTGCTACTG
GCGTGTGCAAGGCAGTAGGCAAAGAGCCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGT
TGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGCYGATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATT
GATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTGTTGATTGGGTGTACAAGACCATCTACTGGACTGATG
CGGCTTCTAAGACTATTTCAGTAGCTACCCTAGATGGAACCAAGAGGAAGTTCCTGTTTAACTCTGACTTGCGAGAGCCTGCCTCCATAGCTGTGGACCC
ACTGTCTGGCTTTGTTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGAT
ATCCAGTGGCCTAAYGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCC
AAGATCRTAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGA
AGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCARGACATCATTGTCTATCATGAACTTGTA
CAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCACCACAGATTAATGATCACTCTCCAAAAT
ATACCTGTTCCTGTCCCAGTGGGTACAATGTAGAGGAAAATGGCCGAGACTGTCAAAGGATCAATGTGACCACAGCAGTATCAGAGGTCAGTGTTCCCCC
AAAAGGGACTTCTGCCGCATGGGCCATTCTTCCTCTCTTGCTCTTAGTGATGGCAGCAGTAGGTGGCTACTTGATGTGGCGGAATTGGCAACACAAGAAC
ATGAAAAGCATGAACTTTGACAATCCTGTGTACTTGAAAACCACTGAAGAGGACCTCTCCATAGACATTGGTAGACACAGTGCTTCTGTTGGACACACGT
ACCCAGCAATATCAGTTGTAAGCACAGATGATGATCTAGCTTGACTTCTGTGACAAATGTTGACCTTTGAGGTCTAAACAAATAATACCCCCGTCGGAAT
GGTAACCGAGCCAGCAGCTGAAGTCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTT
ATATTACTTTTGTAAATATTCTTRTCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCT
CTGGCCAAATATGCACTTTCCCTAGAAAGCCATATTCCAGCAGTGAAACTTGTGCTATAGTGTATACCACCTGTACATACATTGTATAGGCCATCTGTAA
ATATCCCAGAGAACAATCACTATTCTTAAGCACTTTGAAAATATTTCTATGTAAATTATTGTAAACTTTTTCAATGGTTGGGACAATGGCAATAGGACAA
AACGGGTTACTAAGATGAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATGATATCTTTGACCTCAATGGAGGTTTGCAAAGACYGAGTG
TTCAAACTACTGTACATTTTTTTTCAAGTGCTAAAAAATTAAACCAAGCAGCTTAACCATGGTTTGTGCCTGTTCCTCTAGGATGAACTCCTATCCTGAG
TAGTACCAAGTGTTCTAACTAAATGTGTGAGCTGTAGTTCTTGATGTTGTATAACTAAGCCTGTAATTGGGCTGGTTTCTCTTACACCCTAGCACAGTTA
AAAAATGAAGTACTGTTTAACATTTGCTCCCGAAATATTTCTTACTGTGTAAAAGAAGCTAGCTTAGTCTGTACCTAGAATTCCTCTTGGTTAGAGGAGT
GAGTTTCTTTTTTTTCCATTAACTTGTTTCCTGATCGAGAAA

Protein Sequence    (SEQ ID NO:1202):
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDG
SDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQC
STSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDEC
QNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDD
KVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQP
SGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQRINVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMK
SMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA


SNP Information

Context             (SEQ ID NO:9201):
GCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTA
S
TCCCGACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGT
Celera SNP ID:            hCV25608574
SNP Position Transcript:  870
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,35)   caucasian(G,34)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 155, (T,ACT)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,31)   caucasian(G,38)   total(C,1|G,69)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 155, (T,ACT)   (S,AGT)   



Context             (SEQ ID NO:9202):
GGACTGGAGTGATGAGCCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTAC
R
AGTGTGACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAGATATTGATGAATGCCAAAATCCAGGAATCTGCAGTCAAATTTGTATCAA
Celera SNP ID:            hCV11717323
SNP Position Transcript:  1541
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 379, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9203):
GTGTCTACTGGATAGATGGGGAAAATGAAGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACTCTAGTCAACAACCTGAATGATGCCCA
R
GACATCATTGTCTATCATGAACTTGTACAGCCATCAGGTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTGCCAGCAC
Celera SNP ID:            hCV11717317
SNP Position Transcript:  2473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1202, 689, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9204):
TGGCCTAACGGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATC
R
TAGGATAGTACTAAAGTCTCTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAGGATCGTGTCTACTGGATAGATGGGGAAAATGAAGCAGTC
Celera SNP ID:            hCV25608586
SNP Position Transcript:  2307
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,39)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 634, (H,CAT)   (R,CGT)   



Context             (SEQ ID NO:9205):
TTTACTGGTCAGACTGGGGTGAACCAGCTAAAATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGATATCCAGTGGCCTAA
Y
GGAATTACACTTGACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAGTTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATCGTAGGATAG
Celera SNP ID:            hCV11717318
SNP Position Transcript:  2215
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1202, 603, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9206):
CGGAACCGGGAGAAAAGCCAAATGTGAACCCTCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGT
R
TTGACGGCAGTGATGAAAAGAACTGTGTAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGA
Celera SNP ID:            hCV11717327
SNP Position Transcript:  581
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(G,38)   total(A,5|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 59, (I,ATT)   (V,GTT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,-|G,-)    ;WIAF-CSNP-P(1(A,3|G,103)   total(G,103|A,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1202, 59, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:9207):
ATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGTGACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTAGTCC
Y
GACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCC
Celera SNP ID:            hCV16173540
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1202, 156, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:9208):
AGATTGGCTTAGAGAGGAAAGAATATATCCAACTAGTTGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCCCAGAAACTATTCTGGGC
Y
GATCTAAGCCAAAAGGCTATCTTCAGTGCCTCAATTGATGACAAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTG
Celera SNP ID:            hCV11717319
SNP Position Transcript:  1864
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,5)   caucasian(C,38)   total(C,67|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1202, 486, (A,GCC)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1202, 486, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:9209):
CTTCCCCCGCCAACTCCTTCCCCTCCTTCTCCCCCTTTCCCCTCCCCGCCCCCACCTTCTTCCTCCTTTCGGAAGGACTGGTAACTTGTCGTGCGGAGCG
R
ACGGCGGCGGCGGCGGCGGCGGCGGCACCATCCAGGCGGGCACCATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCC
Celera SNP ID:            hCV27089654
SNP Position Transcript:  362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1202, None   



Context             (SEQ ID NO:9210):
GGACAAAACGGGTTACTAAGATGAAATTGCCAAAAAAATTTATAAACTAATTTTGTACGTATGAATGATATCTTTGACCTCAATGGAGGTTTGCAAAGAC
Y
GAGTGTTCAAACTACTGTACATTTTTTTTCAAGTGCTAAAAAATTAAACCAAGCAGCTTAACCATGGTTTGTGCCTGTTCCTCTAGGATGAACTCCTATC
Celera SNP ID:            hCV7589159
SNP Position Transcript:  3495
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1202, None   



Context             (SEQ ID NO:9211):
TCTCTTTTTCTTCCTCTCGGCTGGAAGAACATCAAGATACCTTTGCGTGGATCAAGCTTGTGTACTTGACCGTTTTTATATTACTTTTGTAAATATTCTT
R
TCCACATTCTACTTCAGCTTTGGATGTGGTTACCGAGTATCTGTAACCCTTGAATTTCTAGACAGTATTGCCACCTCTGGCCAAATATGCACTTTCCCTA
Celera SNP ID:            hCV11717312
SNP Position Transcript:  3124
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1202, None   



Gene Number:                 199
Celera Gene:                 hCG28122 - 79000075151795
Celera Transcript:           hCT19268 - 79000075151796
Public Transcript Accession: NM_005226
Celera Protein:              hCP44640 - 197000064937673
Public Protein Accession:    NP_005217
Gene Symbol:                 EDG3
Protein Name:                endothelial differentiation, sphingolipid G-protein-coupled receptor, 3;EDG-3;LPB3;S1P3
Celera Genomic Axis:         GA_x5YUV32VUMT(20578653..20580678)
Chromosome:                  Chr9
OMIM number:                 601965
OMIM Information:            ENDOTHELIAL DIFFERENTIATION GENE 3;EDG3


Transcript Sequence (SEQ ID NO:506):
GAGCCCTTTTTCAACGCCCTCGCTGGAGTCTGGCCTGCACGCCTTGCTGAATGAAGCCGGAACCTCAGCCCCGCTTCCCTTTGAAATGAATGTTCCTGGG
GCGCCCTCTCGTGGATTTTGGAGCTAATCGTCTGTGAATGCCAAGTGATGGCAACTGCCCTCCCGCCGCGTCTCCAGCCGGTGCGGGGGAACGAGACCCT
GCGGGAGCATTACCAGTACGTGGGGAAGTTGGCGGGCAGGCTGAAGGAGGCCTCCGAGGGCAGCACGCTCACCACCGTGCTCTTCTTGGTCATCTGCAGC
TTCATCGTCTTGGAGAACCTGATGGTTTTGATTGCCATCTGGAAAAACAATAAATTTCACAACCGCATGTACTTTTTCATTGGCAACCTGGCTCTCTGCG
ACCTGCTGGCCGGCATCGCTTACAAGGTCAACATTCTGATGTCTGGCAAGAAGACGTTCAGCCTGTCTCCCACGGTCTGGTTCCTCAGGGAGGGCAGTAT
GTTCGTGGCCCTTGGGGCGTCCACCTGCAGCTTACTGGCCATCGCCATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACGACGCCAACAAGAGG
CACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTTYAYGCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCACAATCTCCCTGACT
GCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGCATCAGCATCTTCACGGCCATCCTGGTGACSATCGTGATCCTCTACGCACGCAT
CTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGCRGACCGTGGTGATTGTGGTGAGCGTG
TTCATCGCCTGCTGGTCCCCACTCTTCATCCTCTTCCTCATTGATGTGGCCTGCAGGGTGCAGGCGTGCCCCATCCTCTTCAAGGCTCAGTGGTTCATCG
TGTTGGCTGTGCTCAACTCCGCCATGAACCCGGTCATCTACACGCTGGCCAGCAAGGAGATGCGGCGGGCCTTCTTCCGTCTGGTCTGCAACTGCCTGGT
CAGGGGACGGGGGGCCCGCGCCTCACCCATCCAGCCTGCGCTCGACCCAAGCAGAAGTAAATCAAGCAGCAGCAACAATAGCAGCCACTCTCCGAAGGTC
AAGGAAGACCTGCCCCACACAGCCCCCTCATCCTGCATCATGGACAAGAACGCAGCACTTCAGAATGGGATCTTCTGCAACTGATCGTCTCCATGCGCCC
TGCTCTGCGGCTGTGTTCTTATTTATTGCATGCGTCGCTTCCACAGGGGCCCCTCAAGAGCTGTGACTCGGGAGAGCTACCTTACTTTGACCAACAGCCT
GCCCAGTGTGGATGTCTCTTACAGAGGGGGCCCAAGGAATCACCACCCCGCTTCAGTGTAAACAACGTGCCTTGTCCACTTTGGGCTCCAGAGTCTTTCA
GATGTACTAAGCTGCTGACATCATCCACTGCCTTCTGCTGCATCCTAGACACCCTCCCTGTTGTTCACAGAGAGGGAAGGTCGTGGGCCACACAATGCTG
TGTGACCCTCTCCGTGTGCCTCTGAATGGTGTTTTGATGATTTTACACTACATTTCCTGTGCGTAGAATGGATGCTTGTATATTCGTACATCTCTATGTT
ACACAGAATTTGTGTTGCAGGTGTTTGCCATGTGGTACCTACATAGAATCTCCATACAACACACAGGTAACAGGTTATACAAGTGGATTCAGACTGAACC
CCCAGTACAAGGACATTGTTTTGAACTAGGTGGACATGCCATCCCTGGTCTCCTTAGACTGACATGATTCTCATGTTAACCAAGTTTTAAAAGTTCAAAT
TCCCCAAAAAGGCTTGTCCAAGGCTGGCCCCAGATGTGTGGGTCTGACCCACACCAGCCCTGTGTCCTGTCCTTTCAGTCATTTGTCCCTGCGTAATTTT
AATCGTATTCCAAAGCCCAATTATG

Protein Sequence    (SEQ ID NO:1203):
MATALPPRLQPVRGNETLREHYQYVGKLAGRLKEASEGSTLTTVLFLVICSFIVLENLMVLIAIWKNNKFHNRMYFFIGNLALCDLLAGIAYKVNILMSG
KKTFSLSPTVWFLREGSMFVALGASTCSLLAIAIERHLTMIKMRPYDANKRHRVFLLIGMCWLIAFTLGALPILGWNCLHNLPDCSTILPLYSKKYIAFC
ISIFTAILVTIVILYARIYFLVKSSSRKVANHNNSERSMALLRTVVIVVSVFIACWSPLFILFLIDVACRVQACPILFKAQWFIVLAVLNSAMNPVIYTL
ASKEMRRAFFRLVCNCLVRGRGARASPIQPALDPSRSKSSSSNNSSHSPKVKEDLPHTAPSSCIMDKNAALQNGIFCN


SNP Information

Context             (SEQ ID NO:9212):
CCATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACGACGCCAACAAGAGGCACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTT
Y
ACGCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCT
Celera SNP ID:            hCV25610461
SNP Position Transcript:  645
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1203, 166, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:9213):
ATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACGACGCCAACAAGAGGCACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTTCA
Y
GCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGC
Celera SNP ID:            hCV25610468
SNP Position Transcript:  647
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1203, 167, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:9214):
ACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGCATCAGCATCTTCACGGCCATCCTGGTGAC
S
ATCGTGATCCTCTACGCACGCATCTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGCGGA
Celera SNP ID:            hCV25610469
SNP Position Transcript:  777
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,40)   total(C,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1203, 210, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:9215):
ACCATCGTGATCCTCTACGCACGCATCTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGC
R
GACCGTGGTGATTGTGGTGAGCGTGTTCATCGCCTGCTGGTCCCCACTCTTCATCCTCTTCCTCATTGATGTGGCCTGCAGGGTGCAGGCGTGCCCCATC
Celera SNP ID:            hCV25610470
SNP Position Transcript:  875
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,22)   caucasian(A,2|G,36)   total(A,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1203, 243, (Q,CAG)   (R,CGG)   



Gene Number:                 199
Celera Gene:                 hCG28122 - 79000075151795
Celera Transcript:           hCT2260702 - 79000075151801
Public Transcript Accession: NM_005226
Celera Protein:              hCP1805033 - 197000064937674
Public Protein Accession:    NP_005217
Gene Symbol:                 EDG3
Protein Name:                endothelial differentiation, sphingolipid G-protein-coupled receptor, 3;EDG-3;LPB3;S1P3
Celera Genomic Axis:         GA_x5YUV32VUMT(20569081..20580678)
Chromosome:                  Chr9
OMIM number:                 601965
OMIM Information:            ENDOTHELIAL DIFFERENTIATION GENE 3;EDG3


Transcript Sequence (SEQ ID NO:507):
CCGGTTCCGGGGACGGGCAACAGGGACTCAGGGACCAGAAGGCGGCTGCAGGACGCGACCGAGCAGGACCCCAGGCCCGGGAACGACGTCGCGAGCGCTG
AGACTGCCGGGCCTCCCAGCCCATCTGGCATTCGAGCGCAGGACCGGGCGCCCCGGCACCGCCGCGCGCCACCCGCTAGGATGCCGGTGGCCCCAGCGCC
CTCAGCCGACGGAGGAGCCCTTTTTCAACGCCCTCGCTGGAGTCTGGCCTGCACGCCTTGCTGAATGAAGCCGGAACCTCAGCCCCGCTTCCCTTTGAAA
TGAATGTTCCTGGGGCGCCCTCTCGTGGATTTTGGAGCTAATCGTCTGTGAATGCCAAGTGATGGCAACTGCCCTCCCGCCGCGTCTCCAGCCGGTGCGG
GGGAACGAGACCCTGCGGGAGCATTACCAGTACGTGGGGAAGTTGGCGGGCAGGCTGAAGGAGGCCTCCGAGGGCAGCACGCTCACCACCGTGCTCTTCT
TGGTCATCTGCAGCTTCATCGTCTTGGAGAACCTGATGGTTTTGATTGCCATCTGGAAAAACAATAAATTTCACAACCGCATGTACTTTTTCATTGGCAA
CCTGGCTCTCTGCGACCTGCTGGCCGGCATCGCTTACAAGGTCAACATTCTGATGTCTGGCAAGAAGACGTTCAGCCTGTCTCCCACGGTCTGGTTCCTC
AGGGAGGGCAGTATGTTCGTGGCCCTTGGGGCGTCCACCTGCAGCTTACTGGCCATCGCCATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACG
ACGCCAACAAGAGGCACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTTYAYGCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCA
CAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGCATCAGCATCTTCACGGCCATCCTGGTGACSATCGTGATC
CTCTACGCACGCATCTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGCRGACCGTGGTGA
TTGTGGTGAGCGTGTTCATCGCCTGCTGGTCCCCACTCTTCATCCTCTTCCTCATTGATGTGGCCTGCAGGGTGCAGGCGTGCCCCATCCTCTTCAAGGC
TCAGTGGTTCATCGTGTTGGCTGTGCTCAACTCCGCCATGAACCCGGTCATCTACACGCTGGCCAGCAAGGAGATGCGGCGGGCCTTCTTCCGTCTGGTC
TGCAACTGCCTGGTCAGGGGACGGGGGGCCCGCGCCTCACCCATCCAGCCTGCGCTCGACCCAAGCAGAAGTAAATCAAGCAGCAGCAACAATAGCAGCC
ACTCTCCGAAGGTCAAGGAAGACCTGCCCCACACAGCCCCCTCATCCTGCATCATGGACAAGAACGCAGCACTTCAGAATGGGATCTTCTGCAACTGATC
GTCTCCATGCGCCCTGCTCTGCGGCTGTGTTCTTATTTATTGCATGCGTCGCTTCCACAGGGGCCCCTCAAGAGCTGTGACTCGGGAGAGCTACCTTACT
TTGACCAACAGCCTGCCCAGTGTGGATGTCTCTTACAGAGGGGGCCCAAGGAATCACCACCCCGCTTCAGTGTAAACAACGTGCCTTGTCCACTTTGGGC
TCCAGAGTCTTTCAGATGTACTAAGCTGCTGACATCATCCACTGCCTTCTGCTGCATCCTAGACACCCTCCCTGTTGTTCACAGAGAGGGAAGGTCGTGG
GCCACACAATGCTGTGTGACCCTCTCCGTGTGCCTCTGAATGGTGTTTTGATGATTTTACACTACATTTCCTGTGCGTAGAATGGATGCTTGTATATTCG
TACATCTCTATGTTACACAGAATTTGTGTTGCAGGTGTTTGCCATGTGGTACCTACATAGAATCTCCATACAACACACAGGTAACAGGTTATACAAGTGG
ATTCAGACTGAACCCCCAGTACAAGGACATTGTTTTGAACTAGGTGGACATGCCATCCCTGGTCTCCTTAGACTGACATGATTCTCATGTTAACCAAGTT
TTAAAAGTTCAAATTCCCCAAAAAGGCTTGTCCAAGGCTGGCCCCAGATGTGTGGGTCTGACCCACACCAGCCCTGTGTCCTGTCCTTTCAGTCATTTGT
CCCTGCGTAATTTTAATCGTATTCCAAAGCCCAATTATG

Protein Sequence    (SEQ ID NO:1204):
MATALPPRLQPVRGNETLREHYQYVGKLAGRLKEASEGSTLTTVLFLVICSFIVLENLMVLIAIWKNNKFHNRMYFFIGNLALCDLLAGIAYKVNILMSG
KKTFSLSPTVWFLREGSMFVALGASTCSLLAIAIERHLTMIKMRPYDANKRHRVFLLIGMCWLIAFTLGALPILGWNCLHNLPDCSTILPLYSKKYIAFC
ISIFTAILVTIVILYARIYFLVKSSSRKVANHNNSERSMALLRTVVIVVSVFIACWSPLFILFLIDVACRVQACPILFKAQWFIVLAVLNSAMNPVIYTL
ASKEMRRAFFRLVCNCLVRGRGARASPIQPALDPSRSKSSSSNNSSHSPKVKEDLPHTAPSSCIMDKNAALQNGIFCN


SNP Information

Context             (SEQ ID NO:9216):
CCATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACGACGCCAACAAGAGGCACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTT
Y
ACGCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCT
Celera SNP ID:            hCV25610461
SNP Position Transcript:  859
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1204, 166, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:9217):
ATCGAGCGGCACTTGACAATGATCAAAATGAGGCCTTACGACGCCAACAAGAGGCACCGCGTCTTCCTCCTGATCGGGATGTGCTGGCTCATTGCCTTCA
Y
GCTGGGCGCCCTGCCCATTCTGGGCTGGAACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGC
Celera SNP ID:            hCV25610468
SNP Position Transcript:  861
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1204, 167, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:9218):
ACTGCCTGCACAATCTCCCTGACTGCTCTACCATCCTGCCCCTCTACTCCAAGAAGTACATTGCCTTCTGCATCAGCATCTTCACGGCCATCCTGGTGAC
S
ATCGTGATCCTCTACGCACGCATCTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGCGGA
Celera SNP ID:            hCV25610469
SNP Position Transcript:  991
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,40)   total(C,75|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1204, 210, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:9219):
ACCATCGTGATCCTCTACGCACGCATCTACTTCCTGGTGAAGTCCAGCAGCCGTAAGGTGGCCAACCACAACAACTCGGAGCGGTCCATGGCACTGCTGC
R
GACCGTGGTGATTGTGGTGAGCGTGTTCATCGCCTGCTGGTCCCCACTCTTCATCCTCTTCCTCATTGATGTGGCCTGCAGGGTGCAGGCGTGCCCCATC
Celera SNP ID:            hCV25610470
SNP Position Transcript:  1089
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,22)   caucasian(A,2|G,36)   total(A,4|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1204, 243, (Q,CAG)   (R,CGG)   



Gene Number:                 200
Celera Gene:                 hCG28276 - 145000147419502
Celera Transcript:           hCT2317729 - 145000147421567
Public Transcript Accession: NM_014580
Celera Protein:              hCP1795130 - 197000064927771
Public Protein Accession:    NP_055395
Gene Symbol:                 SLC2A8
Protein Name:                solute carrier family 2, (facilitated glucose transporter) member 8;GLUT8;GLUTX1
Celera Genomic Axis:         GA_x5YUV32W1V9(14301880..14312623)
Chromosome:                  Chr9
OMIM number:                 605245
OMIM Information:            SOLUTE CARRIER FAMILY 2, MEMBER 8;SLC2A8


Transcript Sequence (SEQ ID NO:508):
CCCCGCCGCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGAC
ATGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCT
SGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTG
CCCCCCTYCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCARGAGGCCATGGCCGCCCTGCGGT
TCCTGTGGGGCTCYGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCAYCTACAAGCCCTT
CATCATCGGYGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGAC
AGCAGCCTGGCCTCGGTCGTCGTGGGTGTCATCCAGGTGCTGTTCACAGCTGTGGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCT
TGTCAGGTGTGGTCATGGTGTTCAGCACGAGTGCCTTCGGCGCCTACTTCAAGCTGACCCAGGGTGGCCCTGGCAACTCCTCGCACGTGGCCATCTCGGC
GCCTGTCTCTGCACAGCCTGTTGATGCCAGCGTGGGGCTGGCCTGGCTGGCCGTGGGCAGCATGTGCCTCTTCATCGCCGGCTTTGCGGTGGGCTGGGGG
CCCATCCCCTGGCTCCTCATGTCAGAGATCTTCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCTYG
TGACCAAGGAGTTCAGCAGCCTCATGGAGGTCCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGTT
CTGTGTCCCTGAAACTAAAGGAAAGACTCTGGAACAAATCACAGCCCATTTTGAGGGGCGATGACAGCCACTCACTAGGGGATGGAGCAAGCCTGTGACT
CCAAGCTGGGCCCAAGCCCAGAGCCCCTGCCTGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTCYCTCCTTCCTGTCATGCT
CCCTCCAGCCCATGACCCGGGGCTAGGAGGCTCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACCTTCGAGCTTTGCAGACC
TGCGGTCAGCCCTCCATGCGCAAGACTAAAGCAGCGGAAGAGGAGGTGGGCCTCTAGGATCTTTGTCTTCTGGCTGGAGGTGCTTTTGGAGGTTGGGTGC
TGGGCATTCRGTCGCTCCTCTCACGCGGCTGCCTTATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGC
TTTGTGCAAGCTCAGTTTGAAAAGGGTTTATTCCCWTCACTGCCCAGGACACCCTGTGGCTTTACTTGCTCATGGTCAGCCAAGCTTACCCTTCACACTG
AGAAGTCATTTCTGGCTACTTCCTTGGGCTCAGTTCCCTGGGTCATCAGCCATCAAATCTTGTTGAGTTTAAAAAATAAACAGCAAAA

Protein Sequence    (SEQ ID NO:1205):
MVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSL
MAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQP
VDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETK
GKTLEQITAHFEGR


SNP Information

Context             (SEQ ID NO:9220):
TGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTC
Y
GAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCT
Celera SNP ID:            hCV366724
SNP Position Transcript:  414
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,26|T,10)   total(C,59|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 65, (S,TCC)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 65, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:9221):
CCCTCCATGCGCAAGACTAAAGCAGCGGAAGAGGAGGTGGGCCTCTAGGATCTTTGTCTTCTGGCTGGAGGTGCTTTTGGAGGTTGGGTGCTGGGCATTC
R
GTCGCTCCTCTCACGCGGCTGCCTTATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGCTTTGTGCAAG
Celera SNP ID:            hCV11496102
SNP Position Transcript:  1510
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1205, None   



Context             (SEQ ID NO:9222):
TGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCT
Y
CCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGG
Celera SNP ID:            hCV25610651
SNP Position Transcript:  308
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1205, 30, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:9223):
GGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCA
R
GAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGC
Celera SNP ID:            hCV27503384
SNP Position Transcript:  378
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 53, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9224):
ATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGCTTTGTGCAAGCTCAGTTTGAAAAGGGTTTATTCCC
W
TCACTGCCCAGGACACCCTGTGGCTTTACTTGCTCATGGTCAGCCAAGCTTACCCTTCACACTGAGAAGTCATTTCTGGCTACTTCCTTGGGCTCAGTTC
Celera SNP ID:            hCV16007480
SNP Position Transcript:  1636
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1205, None   



Context             (SEQ ID NO:9225):
ATGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCT
S
GGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGC
Celera SNP ID:            hCV25610652
SNP Position Transcript:  201
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,34)   total(C,71|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1205, None

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,36)   total(C,73|G,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1205, None



Context             (SEQ ID NO:9226):
GCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCA
Y
CTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCC
Celera SNP ID:            hCV25767100
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,3|T,31)   total(C,5|T,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1205, 90, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9227):
GCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGG
Y
GTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGG
Celera SNP ID:            hCV222066
SNP Position Transcript:  510
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,26|T,8)   total(C,62|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 97, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 97, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:9228):
TGGAGCAAGCCTGTGACTCCAAGCTGGGCCCAAGCCCAGAGCCCCTGCCTGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTC
Y
CTCCTTCCTGTCATGCTCCCTCCAGCCCATGACCCGGGGCTAGGAGGCTCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACC
Celera SNP ID:            hCV29292221
SNP Position Transcript:  1283
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1205, None   



Context             (SEQ ID NO:9229):
GGCCCATCCCCTGGCTCCTCATGTCAGAGATCTTCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCT
Y
GTGACCAAGGAGTTCAGCAGCCTCATGGAGGTCCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGT
Celera SNP ID:            hCV25766768
SNP Position Transcript:  999
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1205, 260, (L,CTC)   (L,CTT)   



Gene Number:                 200
Celera Gene:                 hCG28276 - 145000147419502
Celera Transcript:           hCT2317730 - 145000147421651
Public Transcript Accession: NM_014580
Celera Protein:              hCP1795134 - 197000064927775
Public Protein Accession:    NP_055395
Gene Symbol:                 SLC2A8
Protein Name:                solute carrier family 2, (facilitated glucose transporter) member 8;GLUT8;GLUTX1
Celera Genomic Axis:         GA_x5YUV32W1V9(14301685..14311944)
Chromosome:                  Chr9
OMIM number:                 605245
OMIM Information:            SOLUTE CARRIER FAMILY 2, MEMBER 8;SLC2A8


Transcript Sequence (SEQ ID NO:509):
AACTCCGCCCCACCTGTACCTTGGACCGCTCCGCCCTAGGGGCGGTTCCAGCGCGCTTCGCTAATCGGTTCTATGCTCCCATTGGTCTGCTTTAATGTGA
AGGGCGGGTCCTAGCTGAKTCGCTAGCCCCGCCTTGCGTTCCTATTGGCTGCTCCTGCTCTGCGGTTCCGATCCCGCCCAGCACCGTCCCCCACCCCCCG
CCGCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGACATGAC
GCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAGGTGAGCTCCGGGGAACCCGGGCCCGGATGCGGCCTCGCCCTCCCGCCCC
TCCGCGTCCGCTCCGCTCACCCTCGGCCCTGTCCCCCCAGCGCGCCCCGCGGCCGCCGCGTCTTCCTCGCCGCCTTCGCCGCTGCCCTGGGCCCACTCAG
CTTCGGCTTCGCGCTCGGCTACAGCTCCCCGGCCATCCCTAGCCTGCAGCGCGCCGCGCCCCCGGCCCCGCGCCTGGACGACGCCGCCGCCTCCTGGTTC
GGGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTSGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGG
CAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCTYCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTT
CCTGCTGACTCAGCACAGGCGCCARGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCYGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAG
AGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCAYCTACAAGCCCTTCATCATCGGYGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCG
TCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGGCCTCGGTCGTCGTGGGTGTCATCCAGGTGCTGTTCACAGCTGT
GGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCTTGTCAGGTGTGGTCATGGTGTTCAGCACGAGTGCCTTCGGCGCCTACTTCAAG
CTGACCCAGGGTGGCCCTGGCAACTCCTCGCACGTGGCCATCTCGGCGCCTGTCTCTGCACAGCCTGTTGATGCCAGCGTGGGGCTGGCCTGGCTGGCCG
TGGGCAGCATGTGCCTCTTCATCGCCGGAGGTCCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGT
TCTGTGTCCC

Protein Sequence    (SEQ ID NO:1206):
MVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSL
MAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQP
VDASVGLAWLAVGSMCLFIAGGPQALWSLLACLRFLHLQCPFHFVLCP


SNP Information

Context             (SEQ ID NO:9230):
TGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTC
Y
GAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCT
Celera SNP ID:            hCV366724
SNP Position Transcript:  861
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,26|T,10)   total(C,59|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1206, 65, (S,TCC)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1206, 65, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:9231):
GGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCA
R
GAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGC
Celera SNP ID:            hCV27503384
SNP Position Transcript:  825
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1206, 53, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9232):
TGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCT
Y
CCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGG
Celera SNP ID:            hCV25610651
SNP Position Transcript:  755
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1206, 30, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:9233):
GCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCA
Y
CTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCC
Celera SNP ID:            hCV25767100
SNP Position Transcript:  935
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,3|T,31)   total(C,5|T,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1206, 90, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9234):
AGCGCGCCGCGCCCCCGGCCCCGCGCCTGGACGACGCCGCCGCCTCCTGGTTCGGGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCT
S
GGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGC
Celera SNP ID:            hCV25610652
SNP Position Transcript:  648
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,34)   total(C,71|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1206, None

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,36)   total(C,73|G,1)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1206, None



Context             (SEQ ID NO:9235):
GCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGG
Y
GTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGG
Celera SNP ID:            hCV222066
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,26|T,8)   total(C,62|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1206, 97, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1206, 97, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:9236):
CCTTGGACCGCTCCGCCCTAGGGGCGGTTCCAGCGCGCTTCGCTAATCGGTTCTATGCTCCCATTGGTCTGCTTTAATGTGAAGGGCGGGTCCTAGCTGA
K
TCGCTAGCCCCGCCTTGCGTTCCTATTGGCTGCTCCTGCTCTGCGGTTCCGATCCCGCCCAGCACCGTCCCCCACCCCCCGCCGCCCATTGGCTGCGAGA
Celera SNP ID:            hCV27504206
SNP Position Transcript:  119
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1206, None   



Gene Number:                 200
Celera Gene:                 hCG28276 - 145000147419502
Celera Transcript:           hCT19424 - 145000147419503
Public Transcript Accession: NM_014580
Celera Protein:              hCP43768 - 197000064927767
Public Protein Accession:    NP_055395
Gene Symbol:                 SLC2A8
Protein Name:                solute carrier family 2, (facilitated glucose transporter) member 8;GLUT8;GLUTX1
Celera Genomic Axis:         GA_x5YUV32W1V9(14301881..14312623)
Chromosome:                  Chr9
OMIM number:                 605245
OMIM Information:            SOLUTE CARRIER FAMILY 2, MEMBER 8;SLC2A8


Transcript Sequence (SEQ ID NO:510):
CCCGCCGCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGACA
TGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAGCGCGCCCCGCGGCCGCCGCGTCTTCCTCGCCGCCTTCGCCGCTGC
CCTGGGCCCACTCAGCTTCGGCTTCGCGCTCGGCTACAGCTCCCCGGCCATCCCTAGCCTGCAGCGCGCCGCGCCCCCGGCCCCGCGCCTGGACGACGCC
GCCGCCTCCTGGTTCGGGGCTGTCGTGACCCTGGGTGCCGCGGCGGGGGGAGTGCTGGGCGGCTGGCTGGTGGACCGCGCCGGGCGCAAGCTGAGCCTCT
TGCTGTGCTCCGTGCCCTTCGTGGCCGGCTTTGCCGTCATCACCGCGGCCCAGGACGTGTGGATGCTGCTGGGGGGCCGCCTCCTCACCGGCCTGGCCTG
CGGTGTTGCCTCCCTAGTGGCCCCGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTSGGCTCCTGTGTGCAGCTAATGGTCGTCGTC
GGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCTYCCTCATGCTGCTTCTCATGTGCT
TCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCARGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCYGAGCAGGGCTGGGAAGA
CCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCAYCTACAAGCCCTTCATCATCGGYGTCTCCCTGATGGCCTTCCAG
CAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGGCCTCGGTCGTCGTGGGTGTCA
TCCAGGTGCTGTTCACAGCTGTGGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCTTGTCAGGTGTGGTCATGGTGTTCAGCACGAG
TGCCTTCGGCGCCTACTTCAAGCTGACCCAGGGTGGCCCTGGCAACTCCTCGCACGTGGCCATCTCGGCGCCTGTCTCTGCACAGCCTGTTGATGCCAGC
GTGGGGCTGGCCTGGCTGGCCGTGGGCAGCATGTGCCTCTTCATCGCCGGCTTTGCGGTGGGCTGGGGGCCCATCCCCTGGCTCCTCATGTCAGAGATCT
TCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCTYGTGACCAAGGAGTTCAGCAGCCTCATGGAGGT
CCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGTTCTGTGTCCCTGAAACTAAAGGAAAGACTCTG
GAACAAATCACAGCCCATTTTGAGGGGCGATGACAGCCACTCACTAGGGGATGGAGCAAGCCTGTGACTCCAAGCTGGGCCCAAGCCCAGAGCCCCTGCC
TGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTCYCTCCTTCCTGTCATGCTCCCTCCAGCCCATGACCCGGGGCTAGGAGGC
TCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACCTTCGAGCTTTGCAGACCTGCGGTCAGCCCTCCATGCGCAAGACTAAAG
CAGCGGAAGAGGAGGTGGGCCTCTAGGATCTTTGTCTTCTGGCTGGAGGTGCTTTTGGAGGTTGGGTGCTGGGCATTCRGTCGCTCCTCTCACGCGGCTG
CCTTATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGCTTTGTGCAAGCTCAGTTTGAAAAGGGTTTAT
TCCCWTCACTGCCCAGGACACCCTGTGGCTTTACTTGCTCATGGTCAGCCAAGCTTACCCTTCACACTGAGAAGTCATTTCTGGCTACTTCCTTGGGCTC
AGTTCCCTGGGTCATCAGCCATCAAATCTTGTTGAGTTTAAAAAATAAACAGCAAAA

Protein Sequence    (SEQ ID NO:1207):
MTPEDPEETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGAAAGGVLGGWLVDRAGRKLSL
LLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMC
FMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGV
IQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI
FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR


SNP Information

Context             (SEQ ID NO:9237):
TGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTC
Y
GAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCT
Celera SNP ID:            hCV366724
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,26|T,10)   total(C,59|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 228, (S,TCC)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 228, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:9238):
CCCTCCATGCGCAAGACTAAAGCAGCGGAAGAGGAGGTGGGCCTCTAGGATCTTTGTCTTCTGGCTGGAGGTGCTTTTGGAGGTTGGGTGCTGGGCATTC
R
GTCGCTCCTCTCACGCGGCTGCCTTATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGCTTTGTGCAAG
Celera SNP ID:            hCV11496102
SNP Position Transcript:  1879
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1207, None   



Context             (SEQ ID NO:9239):
TGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCT
Y
CCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGG
Celera SNP ID:            hCV25610651
SNP Position Transcript:  677
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1207, 193, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:9240):
GGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCA
R
GAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGC
Celera SNP ID:            hCV27503384
SNP Position Transcript:  747
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 216, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9241):
ATCGGGAAGGAAATTTGTTTGCCAAATAAAGACTGACACAGAAAATCAGGTCAGTGTCTCTGGGCTTTGTGCAAGCTCAGTTTGAAAAGGGTTTATTCCC
W
TCACTGCCCAGGACACCCTGTGGCTTTACTTGCTCATGGTCAGCCAAGCTTACCCTTCACACTGAGAAGTCATTTCTGGCTACTTCCTTGGGCTCAGTTC
Celera SNP ID:            hCV16007480
SNP Position Transcript:  2005
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1207, None   



Context             (SEQ ID NO:9242):
GCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCA
Y
CTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCC
Celera SNP ID:            hCV25767100
SNP Position Transcript:  857
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,3|T,31)   total(C,5|T,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1207, 253, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9243):
TGGGGGGCCGCCTCCTCACCGGCCTGGCCTGCGGTGTTGCCTCCCTAGTGGCCCCGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCT
S
GGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGC
Celera SNP ID:            hCV25610652
SNP Position Transcript:  570
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,34)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 157, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,36)   total(C,73|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 157, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:9244):
GCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGG
Y
GTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGG
Celera SNP ID:            hCV222066
SNP Position Transcript:  879
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,26|T,8)   total(C,62|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 260, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 260, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:9245):
TGGAGCAAGCCTGTGACTCCAAGCTGGGCCCAAGCCCAGAGCCCCTGCCTGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTC
Y
CTCCTTCCTGTCATGCTCCCTCCAGCCCATGACCCGGGGCTAGGAGGCTCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACC
Celera SNP ID:            hCV29292221
SNP Position Transcript:  1652
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1207, None   



Context             (SEQ ID NO:9246):
GGCCCATCCCCTGGCTCCTCATGTCAGAGATCTTCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCT
Y
GTGACCAAGGAGTTCAGCAGCCTCATGGAGGTCCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGT
Celera SNP ID:            hCV25766768
SNP Position Transcript:  1368
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1207, 423, (L,CTC)   (L,CTT)   



Gene Number:                 200
Celera Gene:                 hCG28276 - 145000147419502
Celera Transcript:           hCT1950594 - 145000147421579
Public Transcript Accession: NM_014580
Celera Protein:              hCP1766660 - 197000064927772
Public Protein Accession:    NP_055395
Gene Symbol:                 SLC2A8
Protein Name:                solute carrier family 2, (facilitated glucose transporter) member 8;GLUT8;GLUTX1
Celera Genomic Axis:         GA_x5YUV32W1V9(14301881..14313174)
Chromosome:                  Chr9
OMIM number:                 605245
OMIM Information:            SOLUTE CARRIER FAMILY 2, MEMBER 8;SLC2A8


Transcript Sequence (SEQ ID NO:511):
CCCGCCGCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGACA
TGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAGCGCGCCCCGCGGCCGCCGCGTCTTCCTCGCCGCCTTCGCCGCTGC
CCTGGGCCCACTCAGCTTCGGCTTCGCGCTCGGCTACAGCTCCCCGGCCATCCCTAGCCTGCAGCGCGCCGCGCCCCCGGCCCCGCGCCTGGACGACGCC
GCCGCCTCCTGGTTCGGGGCTGTCGTGACCCTGGGTGCCGCGGCGGGGGGAGTGCTGGGCGGCTGGCTGGTGGACCGCGCCGGGCGCAAGCTGAGCCTCT
TGCTGTGCTCCGTGCCCTTCGTGGCCGGCTTTGCCGTCATCACCGCGGCCCAGGACGTGTGGATGCTGCTGGGGGGCCGCCTCCTCACCGGCCTGGCCTG
CGGTGTTGCCTCCCTAGTGGCCCCGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTSGGCTCCTGTGTGCAGCTAATGGTCGTCGTC
GGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCTYCCTCATGCTGCTTCTCATGTGCT
TCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCARGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCYGAGCAGGGCTGGGAAGA
CCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCAYCTACAAGCCCTTCATCATCGGYGTCTCCCTGATGGCCTTCCAG
CAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGGCCTCGGTCGTCGTGGGTGTCA
TCCAGGTGCTGTTCACAGCTGTGGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCTTGTCAGGTGTGGTCATGGTGTTCAGCACGAG
TGCCTTCGGCGCCTACTTCAAGCTGACCCAGGGTGGCCCTGGCAACTCCTCGCACGTGGCCATCTCGGCGCCTGTCTCTGCACAGCCTGTTGATGCCAGC
GTGGGGCTGGCCTGGCTGGCCGTGGGCAGCATGTGCCTCTTCATCGCCGGCTTTGCGGTGGGCTGGGGGCCCATCCCCTGGCTCCTCATGTCAGAGATCT
TCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCTYGTGACCAAGGAGTTCAGCAGCCTCATGGAGGT
CCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGTTCTGTGTCCCTGAAACTAAAGGAAAGACTCTG
GAACAAATCACAGCCCATTTTGAGGGGCGATGACAGCCACTCACTAGGGGATGGAGCAAGCCTGTGACTCCAAGCTGGGCCCAAGCCCAGAGCCCCTGCC
TGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTCYCTCCTTCCTGTCATGCTCCCTCCAGCCCATGACCCGGGGCTAGGAGGC
TCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACCTTCGAGCTTTGCAGACCTGCGGTCAGCCCTCCATGCGCAAGACTAAAG
CAGCGGAAGAGGAGGCACGGTGGCTCACACCTTTAATCCCAGTGCTTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGAAATTCGAGGCTGCACGC
ACCTCGGCATCCGCATTACCAGTGCTTGCGTGGCAGTCCACTAATCGGGTGAGAACCATATTGCTTTTTGCATCTCAATGAAGCAATAGTAGCAATTTAT
CAAGCACTTTTTTTTCCAGACTGGTATAAAATTGTATGTGCTTTTGTAAACCATTTAACAATAAAAGTAAAATACAAAAGGGAACAGGG

Protein Sequence    (SEQ ID NO:1208):
MTPEDPEETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGAAAGGVLGGWLVDRAGRKLSL
LLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMC
FMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGV
IQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI
FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR


SNP Information

Context             (SEQ ID NO:9247):
TGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTC
Y
GAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCT
Celera SNP ID:            hCV366724
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,26|T,10)   total(C,59|T,15)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 228, (S,TCC)   (S,TCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 228, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:9248):
TGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCT
Y
CCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGG
Celera SNP ID:            hCV25610651
SNP Position Transcript:  677
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,36)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1208, 193, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:9249):
GGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCA
R
GAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGC
Celera SNP ID:            hCV27503384
SNP Position Transcript:  747
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 216, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9250):
GCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCA
Y
CTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCC
Celera SNP ID:            hCV25767100
SNP Position Transcript:  857
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,3|T,31)   total(C,5|T,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1208, 253, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9251):
TGGGGGGCCGCCTCCTCACCGGCCTGGCCTGCGGTGTTGCCTCCCTAGTGGCCCCGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCT
S
GGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAGGCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGC
Celera SNP ID:            hCV25610652
SNP Position Transcript:  570
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,34)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 157, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,36)   total(C,73|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 157, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:9252):
TGGAGCAAGCCTGTGACTCCAAGCTGGGCCCAAGCCCAGAGCCCCTGCCTGCCCCAGGGGAGCCAGAATCCAGCCCCTTGGAGCCTTGGTCTGCAGGGTC
Y
CTCCTTCCTGTCATGCTCCCTCCAGCCCATGACCCGGGGCTAGGAGGCTCACTGCCTCCTGTTCCAGCTCCTGCTGCTGCTCTGAGGACTCAGGAACACC
Celera SNP ID:            hCV29292221
SNP Position Transcript:  1652
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1208, None   



Context             (SEQ ID NO:9253):
GCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAGAGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGG
Y
GTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAGGACAGCAGCCTGG
Celera SNP ID:            hCV222066
SNP Position Transcript:  879
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,26|T,8)   total(C,62|T,10)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 260, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,4|C,6)   total(C,6|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 260, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:9254):
GGCCCATCCCCTGGCTCCTCATGTCAGAGATCTTCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCT
Y
GTGACCAAGGAGTTCAGCAGCCTCATGGAGGTCCTCAGGCCCTATGGAGCCTTCTGGCTTGCCTCCGCTTTCTGCATCTTCAGTGTCCTTTTCACTTTGT
Celera SNP ID:            hCV25766768
SNP Position Transcript:  1368
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1208, 423, (L,CTC)   (L,CTT)   



Gene Number:                 201
Celera Gene:                 hCG28713 - 103000085228276
Celera Transcript:           hCT19868 - 103000085228277
Public Transcript Accession: NM_003693
Celera Protein:              hCP44106 - 197000069433949
Public Protein Accession:    NP_003684
Gene Symbol:                 SCARF1
Protein Name:                scavenger receptor class F, member 1;KIAA0149;MGC47738;SREC
Celera Genomic Axis:         GA_x5YUV32W2JD(13887168..13899034)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:512):
CGAGCGCTCCCACCGAGCTGCCTGCCATGGGGCTGGGGCTGCTGCTCCCGCTGCTGCTGCTCTGGACTCGGGGGACTCAGGGGTCCGAGCTGGACCCCAA
AGGGCAGCACGTCTGTGTGGCCAGCAGCCCCTCTGCTGAGCTGCAGTGCTGCGCAGGCTGGAGGCAGAAGGATCAAGAATGCACCATCCCCATCTGTGAG
GGGCCGGACGCCTGCCAGAAAGACGAGGTGTGTGTGAAGCCGGGCCTCTGTCGATGCAAGCCTGGATTCTTTGGGGCCCACTGCAGCTCCCGCTGCCCGG
GCCAGTACTGGGGCCCCGACTGCCGTGAGAGCTGCCCCTGCCACCCGCACGGCCAGTGCGAGCCAGCCACGGGCGCGTGCCAGTGCCAGGCCGACCGCTG
GGGAGCCCGCTGCGAGTTCCCGTGCGCCTGCGGCCCCCACGGGCGCTGCGACCCCGCGACCGGCGTGTGCCACTGCGAACCCGGCTGGTGGTCGTCCACG
TGCCGCCGCCCGTGCCAGTGCAACACCGCGGCGGCGCGCTGCGAGCAGGCCACGGGCGCCTGCGTGTGCAAGCCGGGCTGGTGGGGGCGCCGCTGCAGCT
TCCGCTGCAACTGCCACGGCTCCCCGTGCGAGCAGGACTCCGGCCGCTGCGCCTGCCGGCCGGGCTGGTGGGGTCCCGAATGCCAGCAGCAGTGCGAGTG
TGTGCGGGGCCGCTGCAGCGCCGCCTCCGGCGAGTGCACCTGCCCGCCCGGCTTCCGCGGAGCGCGCTGCGAGCTGCCCTGCCCGGCAGGCAGCCACGGG
GTGCAGTGCGCACACAGCTGTGGCCGCTGCAAACACAATGAGCCGTGCTCTCCAGACACAGGCAGCTGTGAGTCCTGCGAGCCGGGCTGGAACGGGACCC
AGTGCCAGCAGCCCTGCCTGCCTGGCACCTTTGGCRAGAGCTGCGAACAGCAGTGCCCTCACTGCCGACATGGGGAGGCCTGTGAGCCAGATACTGGCCA
CTGTCAGCGCTGTGACCCTGGCTGGCTGGGGCCCAGGTGTGAAGACCCCTGCCCCACTGGTACCTTTGGGGAAGACTGTGGCTCTACCTGCCCCACCTGT
GTTCAGGGGTCCTGTGATACTGTGACAGGGGACTGTGTCTGCAGTGCCGGCTACTGGGGGCCCAGCTGCAACGCCTCCTGCCCAGCCGGTTTCCATGGAA
ACAACTGCTCAGTTCCTTGTGAATGCCCAGAGGGACTCTGCCACCCTGTCTCTGGGTCCTGCCAGCCAGGCTCTGGCAGTCGGGACACTGCCCTCATCGY
GGGCAGCCTTGTGCCTCTGCTGCTGCTCTTCCTGGGYCTTGCCTGCTGTGCCTGCTGCTGCTGGGCCCCCCGATCAGACCTCAAGGACAGGCCAGCGAGA
GATGGAGCTACCGTGTCCAGGATGAAGCTGCAGGTCTGGGGGACACTGACCAGCTTGGGCTCCACGCTGCCCTGCCGTTCCCTCAGCTCCCACAAGCTAC
CCTGGGTGACAGTCTCACATCACGACCCGGAGGTCCCCTTCAACCACAGCTTCATYGAGCCGCCCTCTGCCGGCTGGGCCACTGATGACTCCTTCTCATC
CGATCCTGAGTCTGGAGAGGCAGATGAGGTTCCTRCCTACTGTGTGCCACCCCAAGAAGGGATGGTCCCTGTGGCCCAGGCAGGGTCGTCAGAGGCCAGC
CTGGCTGCAGGTGCTTTCCYGCCCCCTGAGGACGCCTCCACGCCATTCGCCATCCCGCGCACCTCCAGCCTAGCTCGGGCCAAGCGGCCATCGGTCTCCT
TCGCRGAAGGTACCAAGTTTGCACCACAGAGTCGCCGAAGCTCAGGGGAGCTCTCCMGCCCGCTCCGAAAGCCCAAGARGCTCTCCCGGGGGGCGCAGTC
GRGTCCTGAGGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGASGAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCCAGTCCCGGGGATTCAGCCACT
GGCCACCGGYGGCCCCCACTTGGTRGCCGGACAGTGGCTGAGCACGTGGAAGCCATTGAGGGCAGCGTCCAGGAGAGCTCGGGCCCTGTGACCACGATCT
ACATGCTGGCAGGGAAGCCCCGCGGATCCGAAGGCCCTGTCCGCTCTGTCTTCCGCCATTTTGGTAGCTTCCAGAAAGGCCAGGCGGAAGCCAAGGTCAA
GAGGGCCATCCCTAAGCCTCCGCGCCAGGCCCTGAATCGGAAAAAGGGCAGCCCTGGCCTTGCCTCTGKCTCTGTCGGCCAGAGCCCCAACTCAGCCCCA
AAAGCTGGGCTTCCTGGGGCCACAGGGCCTATGGCAGTCAGACCAGAGGAAGCGGTCCGGGGGCTGGGGGCTGGCACCGAGAGTTCAAGGAGAGCCCAGG
AGCCAGTCTCTGGCTGTGGCTCCCCAGAACAGGATCCCCAGAAGCAGGCTGAAGAGGAAARGCAGGAGGAACCTGAGTATGAGAATGTTGTACCCATCTC
CAGGCCACCAGAACCCTGATGACCTTGAATTTGGGGAGTGGGGAGAGTGGATGGACTAGACTGTGCTGTGTGCTGGAAAATGATCCCGGGGCCAGGACAG
ACAAACCAGAGCCTCTGCGCCTCCACAGGGAAAAGGCAAGGCTTCCAGGCCAGTTGGCCCAGGCCCCTGGCAGTGCTCCCGGAGGGGCCCAGGAAGGCCT
GGGCAGAGACCCTGTAGGATGGGGTCAGGAAGGGTTGCCTGCAGGGACTTTTGCTCTGCTGTCCTGGACCCTGTGTGCCTCATAAGGGCTATTCTTTCTT
TCACGTGCAAAACATTTTTCTGAAATAGCAAACAACCTACATGTTTGCTGATAAAAGATTGGCTAAACAAAWTTTTTTTTTTTTTTTTGAGACAGAATCT
CCCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCCTTCTCCTGCCTCAGCCTCCCGAGTA
GCTGGGACTACAGGTGCCCTCCACCACGCTTGGCTAATTTTTTTGTATATTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCT
GACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCTGGTCTATGAACTTTTTAAAAAGGATGTATGTGTA
TAAAAACAGATTCAAGGGAAAGGCACTAAATGGTTTTTTCCTCTGGAAGATGAGATTGTAGGTGATATTTATTTTCTTCTGAAACTTTTGTATAGTTTGC
AAATTTTCTACAGTGAACATTCTTTTTTACTTTTGTTACTAGATTGAATTTGATAAAGTATAATAAAAAGCAATGATCTTTGTTAAAAAAATAAAAAGTA
CTAACATTACAGAC

Protein Sequence    (SEQ ID NO:1209):
MGLGLLLPLLLLWTRGTQGSELDPKGQHVCVASSPSAELQCCAGWRQKDQECTIPICEGPDACQKDEVCVKPGLCRCKPGFFGAHCSSRCPGQYWGPDCR
ESCPCHPHGQCEPATGACQCQADRWGARCEFPCACGPHGRCDPATGVCHCEPGWWSSTCRRPCQCNTAAARCEQATGACVCKPGWWGRRCSFRCNCHGSP
CEQDSGRCACRPGWWGPECQQQCECVRGRCSAASGECTCPPGFRGARCELPCPAGSHGVQCAHSCGRCKHNEPCSPDTGSCESCEPGWNGTQCQQPCLPG
TFGESCEQQCPHCRHGEACEPDTGHCQRCDPGWLGPRCEDPCPTGTFGEDCGSTCPTCVQGSCDTVTGDCVCSAGYWGPSCNASCPAGFHGNNCSVPCEC
PEGLCHPVSGSCQPGSGSRDTALIVGSLVPLLLLFLGLACCACCCWAPRSDLKDRPARDGATVSRMKLQVWGTLTSLGSTLPCRSLSSHKLPWVTVSHHD
PEVPFNHSFIEPPSAGWATDDSFSSDPESGEADEVPAYCVPPQEGMVPVAQAGSSEASLAAGAFPPPEDASTPFAIPRTSSLARAKRPSVSFAEGTKFAP
QSRRSSGELSSPLRKPKRLSRGAQSGPEGREAEESTGPDEAEAPESFPAAASPGDSATGHRRPPLGSRTVAEHVEAIEGSVQESSGPVTTIYMLAGKPRG
SEGPVRSVFRHFGSFQKGQAEAKVKRAIPKPPRQALNRKKGSPGLASGSVGQSPNSAPKAGLPGATGPMAVRPEEAVRGLGAGTESSRRAQEPVSGCGSP
EQDPQKQAEEERQEEPEYENVVPISRPPEP


SNP Information

Context             (SEQ ID NO:9255):
GCAGATGAGGTTCCTGCCTACTGTGTGCCACCCCAAGAAGGGATGGTCCCTGTGGCCCAGGCAGGGTCGTCAGAGGCCAGCCTGGCTGCAGGTGCTTTCC
Y
GCCCCCTGAGGACGCCTCCACGCCATTCGCCATCCCGCGCACCTCCAGCCTAGCTCGGGCCAAGCGGCCATCGGTCTCCTTCGCGGAAGGTACCAAGTTT
Celera SNP ID:            hCV25981632
SNP Position Transcript:  1720
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   total(C,29|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 565, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9256):
GTGTGCCTCATAAGGGCTATTCTTTCTTTCACGTGCAAAACATTTTTCTGAAATAGCAAACAACCTACATGTTTGCTGATAAAAGATTGGCTAAACAAAT
T
TTTTTTTTTTTTTTTGAGACAGAATCTCCCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGC
Celera SNP ID:            hCV12114323
SNP Position Transcript:  2873
SNP Source:               Celera
Population(Allele,Count): no_pop(-,5|T,7)   total(T,7|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1209, None   



Context             (SEQ ID NO:9257):
CAATGAGCCGTGCTCTCCAGACACAGGCAGCTGTGAGTCCTGCGAGCCGGGCTGGAACGGGACCCAGTGCCAGCAGCCCTGCCTGCCTGGCACCTTTGGC
R
AGAGCTGCGAACAGCAGTGCCCTCACTGCCGACATGGGGAGGCCTGTGAGCCAGATACTGGCCACTGTCAGCGCTGTGACCCTGGCTGGCTGGGGCCCAG
Celera SNP ID:            hCV25613518
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,34)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 304, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:9258):
AACAACTGCTCAGTTCCTTGTGAATGCCCAGAGGGACTCTGCCACCCTGTCTCTGGGTCCTGCCAGCCAGGCTCTGGCAGTCGGGACACTGCCCTCATCG
Y
GGGCAGCCTTGTGCCTCTGCTGCTGCTCTTCCTGGGTCTTGCCTGCTGTGCCTGCTGCTGCTGGGCCCCCCGATCAGACCTCAAGGACAGGCCAGCGAGA
Celera SNP ID:            hCV12114319
SNP Position Transcript:  1300
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,4)      total(C,2|T,4) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 425, (A,GCG)   (V,GTG)      425, (V,GTG)   (A,GCG)      



Context             (SEQ ID NO:9259):
TGGGCTCCACGCTGCCCTGCCGTTCCCTCAGCTCCCACAAGCTACCCTGGGTGACAGTCTCACATCACGACCCGGAGGTCCCCTTCAACCACAGCTTCAT
Y
GAGCCGCCCTCTGCCGGCTGGGCCACTGATGACTCCTTCTCATCCGATCCTGAGTCTGGAGAGGCAGATGAGGTTCCTGCCTACTGTGTGCCACCCCAAG
Celera SNP ID:            hCV25613481
SNP Position Transcript:  1556
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,33|T,7)   total(C,69|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1209, 510, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:9260):
GCGCACCTCCAGCCTAGCTCGGGCCAAGCGGCCATCGGTCTCCTTCGCGGAAGGTACCAAGTTTGCACCACAGAGTCGCCGAAGCTCAGGGGAGCTCTCC
M
GCCCGCTCCGAAAGCCCAAGAGGCTCTCCCGGGGGGCGCAGTCGGGTCCTGAGGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGACGAAGCAGAAGCCCC
Celera SNP ID:            hCV25981629
SNP Position Transcript:  1857
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,1)   total(A,29|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 611, (S,AGC)   (R,CGC)   



Context             (SEQ ID NO:9261):
GCCAAGCGGCCATCGGTCTCCTTCGCGGAAGGTACCAAGTTTGCACCACAGAGTCGCCGAAGCTCAGGGGAGCTCTCCAGCCCGCTCCGAAAGCCCAAGA
R
GCTCTCCCGGGGGGCGCAGTCGGGTCCTGAGGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGACGAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCC
Celera SNP ID:            hCV25981646
SNP Position Transcript:  1879
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   total(A,2|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 618, (K,AAG)   (R,AGG)   



Context             (SEQ ID NO:9262):
GGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGACGAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCCAGTCCCGGGGATTCAGCCACTGGCCACCGG
Y
GGCCCCCACTTGGTAGCCGGACAGTGGCTGAGCACGTGGAAGCCATTGAGGGCAGCGTCCAGGAGAGCTCGGGCCCTGTGACCACGATCTACATGCTGGC
Celera SNP ID:            hCV25981809
SNP Position Transcript:  2010
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   total(C,28|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 662, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,2)   total(C,31|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 662, (R,CGG)   (W,TGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 662, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:9263):
CCCCTTCAACCACAGCTTCATCGAGCCGCCCTCTGCCGGCTGGGCCACTGATGACTCCTTCTCATCCGATCCTGAGTCTGGAGAGGCAGATGAGGTTCCT
R
CCTACTGTGTGCCACCCCAAGAAGGGATGGTCCCTGTGGCCCAGGCAGGGTCGTCAGAGGCCAGCCTGGCTGCAGGTGCTTTCCCGCCCCCTGAGGACGC
Celera SNP ID:            hCV25613491
SNP Position Transcript:  1635
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 537, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:9264):
CAGGGGAGCTCTCCAGCCCGCTCCGAAAGCCCAAGAGGCTCTCCCGGGGGGCGCAGTCGGGTCCTGAGGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGA
S
GAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCCAGTCCCGGGGATTCAGCCACTGGCCACCGGCGGCCCCCACTTGGTAGCCGGACAGTGGCTGAGC
Celera SNP ID:            hCV25613492
SNP Position Transcript:  1943
SNP Source:               Applera
Population(Allele,Count): african american(C,20|G,10)   caucasian(C,2)   total(C,22|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 639, (D,GAC)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,14|G,10)   caucasian(C,30)   total(C,44|G,10)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 639, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,91|C,1410)   total(G,91|C,1410)   no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 639, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:9265):
CGCGGAAGGTACCAAGTTTGCACCACAGAGTCGCCGAAGCTCAGGGGAGCTCTCCAGCCCGCTCCGAAAGCCCAAGAGGCTCTCCCGGGGGGCGCAGTCG
R
GTCCTGAGGGCCGGGAAGCCGAAGAGTCCACAGGCCCAGACGAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCCAGTCCCGGGGATTCAGCCACTGG
Celera SNP ID:            hCV25613493
SNP Position Transcript:  1902
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,28)   total(A,2|G,28)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 626, (S,AGT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,28)   caucasian(G,2)   total(A,2|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 626, (S,AGT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,24)   caucasian(A,1|G,27)   total(A,1|G,51)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 626, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:9266):
TCTGCCACCCTGTCTCTGGGTCCTGCCAGCCAGGCTCTGGCAGTCGGGACACTGCCCTCATCGTGGGCAGCCTTGTGCCTCTGCTGCTGCTCTTCCTGGG
Y
CTTGCCTGCTGTGCCTGCTGCTGCTGGGCCCCCCGATCAGACCTCAAGGACAGGCCAGCGAGAGATGGAGCTACCGTGTCCAGGATGAAGCTGCAGGTCT
Celera SNP ID:            hCV15961686
SNP Position Transcript:  1337
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1209, 437, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:9267):
TTCCAGAAAGGCCAGGCGGAAGCCAAGGTCAAGAGGGCCATCCCTAAGCCTCCGCGCCAGGCCCTGAATCGGAAAAAGGGCAGCCCTGGCCTTGCCTCTG
K
CTCTGTCGGCCAGAGCCCCAACTCAGCCCCAAAAGCTGGGCTTCCTGGGGCCACAGGGCCTATGGCAGTCAGACCAGAGGAAGCGGTCCGGGGGCTGGGG
Celera SNP ID:            hCV25613505
SNP Position Transcript:  2269
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,3)   caucasian(G,4)   total(G,27|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 748, (G,GGC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,3)   caucasian(G,38)   total(G,73|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 748, (G,GGC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(G,27|T,3)   caucasian(G,2)   total(G,29|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 748, (G,GGC)   (V,GTC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,92|G,1387)   total(G,1387|T,92) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 748, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:9268):
AGAGTCCACAGGCCCAGACGAAGCAGAAGCCCCCGAGTCCTTTCCGGCGGCTGCCAGTCCCGGGGATTCAGCCACTGGCCACCGGCGGCCCCCACTTGGT
R
GCCGGACAGTGGCTGAGCACGTGGAAGCCATTGAGGGCAGCGTCCAGGAGAGCTCGGGCCCTGTGACCACGATCTACATGCTGGCAGGGAAGCCCCGCGG
Celera SNP ID:            hCV25613506
SNP Position Transcript:  2025
SNP Source:               Applera
Population(Allele,Count): african american(A,24|G,6)   caucasian(A,2)   total(A,26|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 667, (S,AGC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,6)   caucasian(A,38)   total(A,68|G,6)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 667, (S,AGC)   (G,GGC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 667, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9269):
TGTGTGCCTCATAAGGGCTATTCTTTCTTTCACGTGCAAAACATTTTTCTGAAATAGCAAACAACCTACATGTTTGCTGATAAAAGATTGGCTAAACAAA
W
TTTTTTTTTTTTTTTTGAGACAGAATCTCCCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACG
Celera SNP ID:            hCV1247305
SNP Position Transcript:  2872
SNP Source:               Celera
Population(Allele,Count): no_pop(A,5|T,7)   total(A,5|T,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1209, None   



Context             (SEQ ID NO:9270):
CTGCAGGTGCTTTCCCGCCCCCTGAGGACGCCTCCACGCCATTCGCCATCCCGCGCACCTCCAGCCTAGCTCGGGCCAAGCGGCCATCGGTCTCCTTCGC
R
GAAGGTACCAAGTTTGCACCACAGAGTCGCCGAAGCTCAGGGGAGCTCTCCAGCCCGCTCCGAAAGCCCAAGAGGCTCTCCCGGGGGGCGCAGTCGGGTC
Celera SNP ID:            hCV27510688
SNP Position Transcript:  1805
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1209, 593, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9271):
GGGCTGGGGGCTGGCACCGAGAGTTCAAGGAGAGCCCAGGAGCCAGTCTCTGGCTGTGGCTCCCCAGAACAGGATCCCCAGAAGCAGGCTGAAGAGGAAA
R
GCAGGAGGAACCTGAGTATGAGAATGTTGTACCCATCTCCAGGCCACCAGAACCCTGATGACCTTGAATTTGGGGAGTGGGGAGAGTGGATGGACTAGAC
Celera SNP ID:            hCV25981938
SNP Position Transcript:  2461
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,28)   caucasian(G,2)   total(A,2|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1209, 812, (K,AAG)   (R,AGG)   



Gene Number:                 202
Celera Gene:                 hCG29363 - 206000045516811
Celera Transcript:           hCT2348179 - 206000045516827
Public Transcript Accession: NM_145255
Celera Protein:              hCP1913427 - 206000045516795
Public Protein Accession:    NP_660298
Gene Symbol:                 MRPL10
Protein Name:                mitochondrial ribosomal protein L10;MGC17973;MRP-L8;RPML8
Celera Genomic Axis:         GA_x5YUV32W3KM(14971385..14979655)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:513):
GGCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCGGGCCGGCTGCCTACCCTCCAGAC
YGTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCA
GCCATCCACCCATCATGCCTGCCATCTCCTCCCAGCCCCCCACAGGAGCCCTAGAACCTACCACAGAGGGAGCAACGTTGCCAGGAGAAGTGGCAGCTGA
TGTACCCTTGGTCATTGCTTTCCAACTTCAGGAGATAGGCCTCATCAGGCTTCTCCGCCGGGAGATAGCAGCAGTTTTCCAGGACAACCGAATGATAGCC
GTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAGRTCTTCCCCAACCAGGTCC
TGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGAGCCCAAGGTCAAGGAGAT
GGTACGGATCTTAAGGACTGTGCCATTCCTGCCGCTGCTAGGTGGCTGCATTGATGACACCATCCTCAGCAGGCAGGGCTTTATCAACTACTCCAAGCTC
CCCAGCCTGCCCCTGGTGCAGGGGGAGCTTGTAGGAGGCCTCACCTGCCTCACAGCCCAGACCCACTCCCTGCTCCAGCACCAGCCCCTCCAGCTGACCA
CCCTGTTGGACCAGTACATCAGAGAGCAACGCGAGAAGGATTCTGTCATGTCGGCCAATGGGAAGCCAGATCCTGACACTGTTCCGGACTCGTAGCCAGC
CTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCGRGGAGTGTGTTTGTC
ACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCTTCGTCCTTAGTTTT
CCCAACTTGGGACGTGATAGGAGCAAAGTCTCTCCATTCTCCAGGTCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGCCTCCTTGGTCAC
TGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACARCCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGG
TGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACRTGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAGAGAAGGAGCAGA
GAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCTWCA
CTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCMCCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAG
TTTGGGAGCMCTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACTCTCAGGGGCTTC
TCTGTCATCTGACTTTCCTCACTCTTGCTTCCCTTCCTAGGAAAATCCTCTTCCCCTATACCTGTTCCCACAAATGGCATCCCGCGCATGCTTGCCCTAT
TAAAGGCAGCTGACAGCTGTACCCACTAGCTAA

Protein Sequence    (SEQ ID NO:1210):
MAAAVAGMLRGGLLPQAGRLPTLQTVRYGSKAVTRHRRVMHFQRQKLMAVTEYIPPKPAIHPSCLPSPPSPPQEP


SNP Information

Context             (SEQ ID NO:9272):
GGCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCGGGCCGGCTGCCTACCCTCCAGAC
Y
GTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAG
Celera SNP ID:            hCV25923013
SNP Position Transcript:  101
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,7)   caucasian(T,38)   total(C,1|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1210, 25, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:9273):
AGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCT
W
CACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAA
Celera SNP ID:            hCV7454255
SNP Position Transcript:  1498
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Context             (SEQ ID NO:9274):
GGACAACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAG
R
TCTTCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGA
Celera SNP ID:            hCV25923263
SNP Position Transcript:  482
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,6|G,10)   total(A,7|G,15)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None



Context             (SEQ ID NO:9275):
CCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGC
M
CTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACTCTCAGGGGCTTCTCTGTCATCT
Celera SNP ID:            hCV735216
SNP Position Transcript:  1610
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,13)      total(A,13|C,2) ;Caucasian(A,84)   African-American(A,84)   no_pop(C,-|A,-)   total(A,168)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Context             (SEQ ID NO:9276):
GGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCG
R
GGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCT
Celera SNP ID:            hCV542406
SNP Position Transcript:  986
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,5|G,17)   total(A,5|G,23)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   Caucasian(A,33|G,51)   African-American(A,6|G,70)   no_pop(G,-|A,-)   Asians(G,36|A,46)   total(G,157|A,85) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Context             (SEQ ID NO:9277):
TCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACA
R
CCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACATGT
Celera SNP ID:            hCV2960532
SNP Position Transcript:  1246
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Context             (SEQ ID NO:9278):
ACAACCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTAC
R
TGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGC
Celera SNP ID:            hCV7454265
SNP Position Transcript:  1343
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Context             (SEQ ID NO:9279):
CAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCTTCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCC
M
CCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGCACTGCTTTATAATAAAATGAAATATATTCTACTT
Celera SNP ID:            hCV27268439
SNP Position Transcript:  1543
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1210, None   



Gene Number:                 202
Celera Gene:                 hCG29363 - 206000045516811
Celera Transcript:           hCT20526 - 206000045516812
Public Transcript Accession: NM_145255
Celera Protein:              hCP44477 - 206000045516804
Public Protein Accession:    NP_660298
Gene Symbol:                 MRPL10
Protein Name:                mitochondrial ribosomal protein L10;MGC17973;MRP-L8;RPML8
Celera Genomic Axis:         GA_x5YUV32W3KM(14971385..14979655)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:514):
GGCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCGGGCTAGAGTGCAGTGGCATGATC
TCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCCGGCTGCCTACCCTCCAGACYG
TCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAGC
CATCCACCCATCATGCCTGCCATCTCCTCCCAGCCCCCCACAGGAGGAGATAGGCCTCATCAGGCTTCTCCGCCGGGAGATAGCAGCAGTTTTCCAGGAC
AACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAGRTCT
TCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGAGCC
CAAGGTCAAGGAGATGGTACGGATCTTAAGGACTGTGCCATTCCTGCCGCTGCTAGGTGGCTGCATTGATGACACCATCCTCAGCAGGCAGGGCTTTATC
AACTACTCCAAGCTCCCCAGCCTGCCCCTGGTGCAGGGGGAGCTTGTAGGAGGCCTCACCTGCCTCACAGCCCAGACCCACTCCCTGCTCCAGCACCAGC
CCCTCCAGCTGACCACCCTGTTGGACCAGTACATCAGAGAGCAACGCGAGAAGGATTCTGTCATGTCGGCCAATGGGAAGCCAGATCCTGACACTGTTCC
GGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCG
RGGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGC
TTCGTCCTTAGTTTTCCCAACTTGGGACGTGATAGGAGCAAAGTCTCTCCATTCTCCAGGTCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCC
TGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACARCCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCT
GAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACRTGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCA
CAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCG
TCCTGAATTTCTWCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCMCCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGT
GTACGCTGTGAAAAGTTTGGGAGCMCTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTT
ACTCTCAGGGGCTTCTCTGTCATCTGACTTTCCTCACTCTTGCTTCCCTTCCTAGGAAAATCCTCTTCCCCTATACCTGTTCCCACAAATGGCATCCCGC
GCATGCTTGCCCTATTAAAGGCAGCTGACAGCTGTACCCACTAGCTAA

Protein Sequence    (SEQ ID NO:1211):
MISAHCNLHLPGSSDSPASASQVAGITGRLPTLQTVRYGSKAVTRHRRVMHFQRQKLMAVTEYIPPKPAIHPSCLPSPPSPPQEEIGLIRLLRREIAAVF
QDNRMIAVCQNVALSAEDKLLMRHQLRKHKILMKVFPNQVLKPFLEDSKYQNLLPLFVGHNMLLVSEEPKVKEMVRILRTVPFLPLLGGCIDDTILSRQG
FINYSKLPSLPLVQGELVGGLTCLTAQTHSLLQHQPLQLTTLLDQYIREQREKDSVMSANGKPDPDTVPDS


SNP Information

Context             (SEQ ID NO:9280):
TCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCCGGCTGCCTACCCTCCAGAC
Y
GTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAG
Celera SNP ID:            hCV25923013
SNP Position Transcript:  199
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,7)   caucasian(T,38)   total(C,1|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1211, 35, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:9281):
GGACAACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAG
R
TCTTCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGA
Celera SNP ID:            hCV25923263
SNP Position Transcript:  497
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,6|G,10)   total(A,7|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1211, 135, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9282):
AGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCT
W
CACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAA
Celera SNP ID:            hCV7454255
SNP Position Transcript:  1513
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Context             (SEQ ID NO:9283):
CCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGC
M
CTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACTCTCAGGGGCTTCTCTGTCATCT
Celera SNP ID:            hCV735216
SNP Position Transcript:  1625
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,13)      total(A,13|C,2) ;Caucasian(A,84)   African-American(A,84)   no_pop(C,-|A,-)   total(A,168)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Context             (SEQ ID NO:9284):
GGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCG
R
GGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCT
Celera SNP ID:            hCV542406
SNP Position Transcript:  1001
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,5|G,17)   total(A,5|G,23)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   Caucasian(A,33|G,51)   African-American(A,6|G,70)   no_pop(G,-|A,-)   Asians(G,36|A,46)   total(G,157|A,85) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Context             (SEQ ID NO:9285):
TCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACA
R
CCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACATGT
Celera SNP ID:            hCV2960532
SNP Position Transcript:  1261
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Context             (SEQ ID NO:9286):
ACAACCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTAC
R
TGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGC
Celera SNP ID:            hCV7454265
SNP Position Transcript:  1358
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Context             (SEQ ID NO:9287):
CAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCTTCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCC
M
CCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGCACTGCTTTATAATAAAATGAAATATATTCTACTT
Celera SNP ID:            hCV27268439
SNP Position Transcript:  1558
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1211, None   



Gene Number:                 202
Celera Gene:                 hCG29363 - 206000045516811
Celera Transcript:           hCT2348178 - 206000045516794
Public Transcript Accession: NM_145255
Celera Protein:              hCP1913428 - 206000045516798
Public Protein Accession:    NP_660298
Gene Symbol:                 MRPL10
Protein Name:                mitochondrial ribosomal protein L10;MGC17973;MRP-L8;RPML8
Celera Genomic Axis:         GA_x5YUV32W3KM(14971386..14979655)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:515):
GCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCCGGCTGCCTACCCTCCAGACYGTCC
GCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAGCCAT
CCACCCATCATGCCTGCCATCTCCTCCCAGCCCCCCACAGGAGGAGATAGGCCTCATCAGGCTTCTCCGCCGGGAGATAGCAGCAGTTTTCCAGGACAAC
CGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAGRTCTTCC
CCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGAGCCCAA
GGTCAAGGAGATGGTACGGATCTTAAGGACTGTGCCATTCCTGCCGCTGCTAGGTGGCTGCATTGATGACACCATCCTCAGCAGGCAGGGCTTTATCAAC
TACTCCAAGCTCCCCAGCCTGCCCCTGGTGCAGGGGGAGCTTGTAGGAGGCCTCACCTGCCTCACAGCCCAGACCCACTCCCTGCTCCAGCACCAGCCCC
TCCAGCTGACCACCCTGTTGGACCAGTACATCAGAGAGCAACGCGAGAAGGATTCTGTCATGTCGGCCAATGGGAAGCCAGATCCTGACACTGTTCCGGA
CTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCGRGG
AGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCTTC
GTCCTTAGTTTTCCCAACTTGGGACGTGATAGGAGCAAAGTCTCTCCATTCTCCAGGTCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGC
CTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACARCCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAG
AATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACRTGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAG
AGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCC
TGAATTTCTWCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCMCCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTA
CGCTGTGAAAAGTTTGGGAGCMCTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACT
CTCAGGGGCTTCTCTGTCATCTGACTTTCCTCACTCTTGCTTCCCTTCCTAGGAAAATCCTCTTCCCCTATACCTGTTCCCACAAATGGCATCCCGCGCA
TGCTTGCCCTATTAAAGGCAGCTGACAGCTGTACCCACTAGCTAA

Protein Sequence    (SEQ ID NO:1212):
MHFQRQKLMAVTEYIPPKPAIHPSCLPSPPSPPQEEIGLIRLLRREIAAVFQDNRMIAVCQNVALSAEDKLLMRHQLRKHKILMKVFPNQVLKPFLEDSK
YQNLLPLFVGHNMLLVSEEPKVKEMVRILRTVPFLPLLGGCIDDTILSRQGFINYSKLPSLPLVQGELVGGLTCLTAQTHSLLQHQPLQLTTLLDQYIRE
QREKDSVMSANGKPDPDTVPDS


SNP Information

Context             (SEQ ID NO:9288):
GCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCCGGCTGCCTACCCTCCAGAC
Y
GTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAG
Celera SNP ID:            hCV25923013
SNP Position Transcript:  96
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,7)   caucasian(T,38)   total(C,1|T,45)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1212, None



Context             (SEQ ID NO:9289):
GGACAACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAG
R
TCTTCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGA
Celera SNP ID:            hCV25923263
SNP Position Transcript:  394
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,6|G,10)   total(A,7|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1212, 86, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9290):
AGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCT
W
CACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAA
Celera SNP ID:            hCV7454255
SNP Position Transcript:  1410
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Context             (SEQ ID NO:9291):
CCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGC
M
CTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACTCTCAGGGGCTTCTCTGTCATCT
Celera SNP ID:            hCV735216
SNP Position Transcript:  1522
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,13)      total(A,13|C,2) ;Caucasian(A,84)   African-American(A,84)   no_pop(C,-|A,-)   total(A,168)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Context             (SEQ ID NO:9292):
GGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCG
R
GGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCT
Celera SNP ID:            hCV542406
SNP Position Transcript:  898
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,5|G,17)   total(A,5|G,23)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   Caucasian(A,33|G,51)   African-American(A,6|G,70)   no_pop(G,-|A,-)   Asians(G,36|A,46)   total(G,157|A,85) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Context             (SEQ ID NO:9293):
TCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACA
R
CCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACATGT
Celera SNP ID:            hCV2960532
SNP Position Transcript:  1158
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Context             (SEQ ID NO:9294):
ACAACCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTAC
R
TGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGC
Celera SNP ID:            hCV7454265
SNP Position Transcript:  1255
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Context             (SEQ ID NO:9295):
CAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCTTCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCC
M
CCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGCACTGCTTTATAATAAAATGAAATATATTCTACTT
Celera SNP ID:            hCV27268439
SNP Position Transcript:  1455
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1212, None   



Gene Number:                 202
Celera Gene:                 hCG29363 - 206000045516811
Celera Transcript:           hCT2348177 - 206000045516796
Public Transcript Accession: NM_145255
Celera Protein:              hCP1913429 - 206000045516801
Public Protein Accession:    NP_660298
Gene Symbol:                 MRPL10
Protein Name:                mitochondrial ribosomal protein L10;MGC17973;MRP-L8;RPML8
Celera Genomic Axis:         GA_x5YUV32W3KM(14971385..14979655)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:516):
GGCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCGGGCCGGCTGCCTACCCTCCAGAC
YGTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCA
GCCATCCACCCATCATGCCTGCCATCTCCTCCCAGCCCCCCACAGGAGGAGATAGGCCTCATCAGGCTTCTCCGCCGGGAGATAGCAGCAGTTTTCCAGG
ACAACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAGRT
CTTCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGAG
CCCAAGGTCAAGGAGATGGTACGGATCTTAAGGACTGTGCCATTCCTGCCGCTGCTAGGTGGCTGCATTGATGACACCATCCTCAGCAGGCAGGGCTTTA
TCAACTACTCCAAGCTCCCCAGCCTGCCCCTGGTGCAGGGGGAGCTTGTAGGAGGCCTCACCTGCCTCACAGCCCAGACCCACTCCCTGCTCCAGCACCA
GCCCCTCCAGCTGACCACCCTGTTGGACCAGTACATCAGAGAGCAACGCGAGAAGGATTCTGTCATGTCGGCCAATGGGAAGCCAGATCCTGACACTGTT
CCGGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGT
CGRGGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCG
GCTTCGTCCTTAGTTTTCCCAACTTGGGACGTGATAGGAGCAAAGTCTCTCCATTCTCCAGGTCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCC
CCTGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACARCCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTG
CTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACRTGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTT
CACAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCG
CGTCCTGAATTTCTWCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCMCCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAG
GTGTACGCTGTGAAAAGTTTGGGAGCMCTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAAC
TTACTCTCAGGGGCTTCTCTGTCATCTGACTTTCCTCACTCTTGCTTCCCTTCCTAGGAAAATCCTCTTCCCCTATACCTGTTCCCACAAATGGCATCCC
GCGCATGCTTGCCCTATTAAAGGCAGCTGACAGCTGTACCCACTAGCTAA

Protein Sequence    (SEQ ID NO:1213):
MAAAVAGMLRGGLLPQAGRLPTLQTVRYGSKAVTRHRRVMHFQRQKLMAVTEYIPPKPAIHPSCLPSPPSPPQEEIGLIRLLRREIAAVFQDNRMIAVCQ
NVALSAEDKLLMRHQLRKHKILMKVFPNQVLKPFLEDSKYQNLLPLFVGHNMLLVSEEPKVKEMVRILRTVPFLPLLGGCIDDTILSRQGFINYSKLPSL
PLVQGELVGGLTCLTAQTHSLLQHQPLQLTTLLDQYIREQREKDSVMSANGKPDPDTVPDS


SNP Information

Context             (SEQ ID NO:9296):
GGCTTCCGTCCATTCTTCCGGTGGAGATGGCTGCGGCCGTGGCGGGGATGCTGCGAGGGGGTCTCCTGCCCCAGGCGGGCCGGCTGCCTACCCTCCAGAC
Y
GTCCGCTATGGCTCCAAGGCTGTTACCCGCCACCGTCGTGTGATGCACTTTCAGCGGCAGAAGCTGATGGCTGTGACTGAATATATCCCCCCGAAACCAG
Celera SNP ID:            hCV25923013
SNP Position Transcript:  101
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,7)   caucasian(T,38)   total(C,1|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1213, 25, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:9297):
GGACAACCGAATGATAGCCGTCTGCCAGAATGTGGCTCTGAGTGCAGAGGACAAGCTTCTTATGCGACACCAGCTGCGGAAACACAAGATCCTGATGAAG
R
TCTTCCCCAACCAGGTCCTGAAGCCCTTCCTGGAGGATTCCAAGTACCAAAATCTGCTGCCCCTTTTTGTGGGGCACAACATGCTGCTGGTCAGTGAAGA
Celera SNP ID:            hCV25923263
SNP Position Transcript:  399
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,6|G,10)   total(A,7|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1213, 125, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9298):
AGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGCAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCT
W
CACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAA
Celera SNP ID:            hCV7454255
SNP Position Transcript:  1415
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Context             (SEQ ID NO:9299):
CCTCATCAGGTTACCCAGAAGTGGGTCCCATCCACCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGC
M
CTGCTTTATAATAAAATGAAATATATTCTACTTCCTTTATTTTGTGGTTTACACGGTTGTCCTCCCTCTAAACTTACTCTCAGGGGCTTCTCTGTCATCT
Celera SNP ID:            hCV735216
SNP Position Transcript:  1527
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,13)      total(A,13|C,2) ;Caucasian(A,84)   African-American(A,84)   no_pop(C,-|A,-)   total(A,168)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Context             (SEQ ID NO:9300):
GGACTCGTAGCCAGCCTGTTTAGCCAGCCCTGCGCATAAATACACTCTGCGTTATTGGCTGTGCTCTCCTCAATGGGACATGTGGAAGAACTTGGGGTCG
R
GGAGTGTGTTTGTCACTTGGTTTTCACTAGTAATGATATTGTCAGGTATAGGGCCACTTGGAGATGCAGAGGATTCCATTTCAGATGTCAGTCACCGGCT
Celera SNP ID:            hCV542406
SNP Position Transcript:  903
SNP Source:               Applera
Population(Allele,Count): african american(G,6)   caucasian(A,5|G,17)   total(A,5|G,23)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   Caucasian(A,33|G,51)   African-American(A,6|G,70)   no_pop(G,-|A,-)   Asians(G,36|A,46)   total(G,157|A,85) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Context             (SEQ ID NO:9301):
TCCAAGGCAGAGATCCTGAAAAGATAGGGCTATTGTCCCCTGCCTCCTTGGTCACTGCCTCTTGCTGCACGGGCTCCTGAGCCCACCCCCTTGGGGCACA
R
CCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTACATGT
Celera SNP ID:            hCV2960532
SNP Position Transcript:  1163
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Context             (SEQ ID NO:9302):
ACAACCTGCCACTGCCACAGTAGCTCAACCAAGCAGTTGTGCTGAGAATGGCACCTGGTGAGAGCCTGCTGTGTGCCAGGCTTTGTGCTGAGTGCTGTAC
R
TGTATTAGTTCCTTTACTGCTGACCACATTGTACCCATTTCACAGAGAAGGAGCAGAGAAATTAAGTGGCTTGCTCAAGGTCATGCAGTTAGTAAGTGGC
Celera SNP ID:            hCV7454265
SNP Position Transcript:  1260
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Context             (SEQ ID NO:9303):
CAGAACAGGGACTTGAACCAAGCCCTCTGCTCTGAAGACCGCGTCCTGAATTTCTTCACTAGAGCTTCCTCATCAGGTTACCCAGAAGTGGGTCCCATCC
M
CCATCCAGGTGTGCTTGGATGTTAGTTCTCCACCCTCGAGGTGTACGCTGTGAAAAGTTTGGGAGCACTGCTTTATAATAAAATGAAATATATTCTACTT
Celera SNP ID:            hCV27268439
SNP Position Transcript:  1460
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1213, None   



Gene Number:                 203
Celera Gene:                 hCG29594 - 84000314003876
Celera Transcript:           hCT2301929 - 84000314003908
Public Transcript Accession: NM_004791
Celera Protein:              hCP1866058 - 197000069389192
Public Protein Accession:    NP_004782
Gene Symbol:                 ITGBL1
Protein Name:                integrin, beta-like 1 (with EGF-like repeat domains);OSCP;TIED
Celera Genomic Axis:         GA_x5YUV32W8MG(15174137..15466260)
Chromosome:                  Chr13
OMIM number:                 604234
OMIM Information:            INTEGRIN, BETA-LIKE 1;ITGBL1


Transcript Sequence (SEQ ID NO:517):
GAAGGTGCGTGCTTCCTTTTCGCCTCCCACCATAATTACTCTCCACTGAGGGGTTTGGCACCAGCACCCCGCCCAGAGCAGTGCCGCTGCCCAAATCCTC
GCAGGCAGCTCATCAACGCAATTGCAACTCCGGCTGGAGCCCCGGACCTGCAAGCCTGGGTGTCCGTGGGTCCGTCTGCCCAGCCATCTGCTGGTGGCAC
CTCTCCCTCCTGCCGCCTCCCTCGGTGAACCCCACCTTGCAGAAGTGCAGCTCGCCCGGAGCAGCCCAGGAGCTCAGCRTGCGTCCCCCAGGCTTCAGGA
ACTTCTTGCTGCTGGCGTCCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAG
GCTGTCCCGGGCCGAGTCSGAGCGACGCTGCCGCGCACCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGC
ATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGCCCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAGRCCATG
GTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCA
AATGTGCAAGAATTCACAAGACATCATCTGCTCTAATKCAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTAT
GGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCA
AGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTGYGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAA
CAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGG
GACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAGGTCATGGACAGTGTAATTGCGGAAGATGTGACTGCAAAGCAGGCTGGTATGGGA
AGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGCTGAGGAGAGCATCAGGAAGTGCCAGGGAAGCTCGGATCTGCCTTGCTCTGGGAGGGGTAAATG
TGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGATCGCCGGGTGTATGGCAAGACTTGTGAGTGTGATGATCGCCGCTGTGAAGACCTCGATGGTGTG
GTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCYRCGGAAGTGTAACATGACGG
AAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGARGAGTG
GTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAAACTGT
GAATGCTGGGATGGATGGAATGGAAATGCATGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGCAATTTTGATGACGTATTCGC
TGATGCACAGACATTGGAATTCATTACATTATCTAGCCATCGTAATACAAATGACCTTTGGATTTCTCTATCACGGCGCTTATCCTCCTATTAAGGATCA
GAAAGTTAAACTTTACGGACCACGTACGTCCCTGTCTCATATTCTTCTTTGTTGGTTTCTGTTTAATACTTTAAAGCTGTAAAAAAAAWTTAAAAAATTC
CTTCTGAGCTCCCAGGCCATACAAAAGCAACTTAAGGGTGGATTTGGCTGGCAGCTGGGCAGTACTTTGTCAGCCTCAGCTCCACTGGAACTGCCCTTGA
TTCTCTATAGCTCATCACAAAACCTCAGGTATGTCTTATTTTTCTTATAATCCTCTGTATGTTATTATCCTTTTTATTAACAACAACAACT

Protein Sequence    (SEQ ID NO:1214):
MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACRLSRAESERRCRAPGQPPGAALCHGRGRCDCGVCICHVTEPGMFFGPLCECHEWVCETYD
GSTCAGHGKCDCGKCKCDQGWYGDACQYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVYGKFCECDDRECIDDETEEICGGHGKC
YCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICSNRGTCVCGECTCHDVDPTGDWGDIHGDTCECDERDCRAVYDRYSDDFCSGHGQCNCGRCD
CKAGWYGKKCEHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCYPPGDRRVYGKTCECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQH
PRKCNMTEEQSKNLCESADGILCSGKGSCHCGKCICSAEEWYISGEFCDCDDRDCDKHDGLICTGNGICSCGNCECWDGWNGNACEIWLGSEYP


SNP Information

Context             (SEQ ID NO:9304):
GTCTGCATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGCCCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAG
R
CCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGT
Celera SNP ID:            hCV25611066
SNP Position Transcript:  595
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 106, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 106, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:9305):
CCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAGGCTGTCCCGGGCCGAGTC
S
GAGCGACGCTGCCGCGCACCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGCATCTGCCACGTGACTGAGC
Celera SNP ID:            hCV12128053
SNP Position Transcript:  419
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,7)      total(G,7|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1214, 47, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:9306):
TGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATC
Y
GCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGC
Celera SNP ID:            hCV25611083
SNP Position Transcript:  1480
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 401, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9307):
ACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTG
Y
GATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACG
Celera SNP ID:            hCV25611068
SNP Position Transcript:  938
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1214, 220, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:9308):
GTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCC
R
CGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCA
Celera SNP ID:            hCV25611093
SNP Position Transcript:  1481
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1214, 401, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:9309):
TATTAAGGATCAGAAAGTTAAACTTTACGGACCACGTACGTCCCTGTCTCATATTCTTCTTTGTTGGTTTCTGTTTAATACTTTAAAGCTGTAAAAAAAA
W
TTAAAAAATTCCTTCTGAGCTCCCAGGCCATACAAAAGCAACTTAAGGGTGGATTTGGCTGGCAGCTGGGCAGTACTTTGTCAGCCTCAGCTCCACTGGA
Celera SNP ID:            hCV27349018
SNP Position Transcript:  1989
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|T,9)   total(A,1|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1214, None   



Context             (SEQ ID NO:9310):
TGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGA
R
GAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAA
Celera SNP ID:            hCV15877117
SNP Position Transcript:  1595
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,31|G,7)   total(A,63|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1214, 439, (E,GAA)   (E,GAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1214, 439, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:9311):
CCCAGCCATCTGCTGGTGGCACCTCTCCCTCCTGCCGCCTCCCTCGGTGAACCCCACCTTGCAGAAGTGCAGCTCGCCCGGAGCAGCCCAGGAGCTCAGC
R
TGCGTCCCCCAGGCTTCAGGAACTTCTTGCTGCTGGCGTCCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAG
Celera SNP ID:            hCV1806098
SNP Position Transcript:  279
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,6)   total(G,6|A,3) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1214, None   



Context             (SEQ ID NO:9312):
ATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAAT
K
CAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGA
Celera SNP ID:            hCV1806230
SNP Position Transcript:  738
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,3)   caucasian(G,32)   total(G,61|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 154, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,32|T,4)   caucasian(G,37|T,3)   total(G,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 154, (A,GCA)   (S,TCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|G,6)      total(G,6|T,2) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1214, 154, (A,GCA)   (S,TCA)      



Gene Number:                 203
Celera Gene:                 hCG29594 - 84000314003876
Celera Transcript:           hCT20759 - 84000314003892
Public Transcript Accession: NM_004791
Celera Protein:              hCP44540 - 197000069389191
Public Protein Accession:    NP_004782
Gene Symbol:                 ITGBL1
Protein Name:                integrin, beta-like 1 (with EGF-like repeat domains);OSCP;TIED
Celera Genomic Axis:         GA_x5YUV32W8MG(15174137..15464795)
Chromosome:                  Chr13
OMIM number:                 604234
OMIM Information:            INTEGRIN, BETA-LIKE 1;ITGBL1


Transcript Sequence (SEQ ID NO:518):
GAAGGTGCGTGCTTCCTTTTCGCCTCCCACCATAATTACTCTCCACTGAGGGGTTTGGCACCAGCACCCCGCCCAGAGCAGTGCCGCTGCCCAAATCCTC
GCAGGCAGCTCATCAACGCAATTGCAACTCCGGCTGGAGCCCCGGACCTGCAAGCCTGGGTGTCCGTGGGTCCGTCTGCCCAGCCATCTGCTGGTGGCAC
CTCTCCCTCCTGCCGCCTCCCTCGGTGAACCCCACCTTGCAGAAGTGCAGCTCGCCCGGAGCAGCCCAGGAGCTCAGCRTGCGTCCCCCAGGCTTCAGGA
ACTTCTTGCTGCTGGCGTCCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAG
GCTGTCCCGGGCCGAGTCSGAGCGACGCTGCCGCGCACCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGC
ATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGCCCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAGRCCATG
GTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCA
AATGTGCAAGAATTCACAAGACATCATCTGCTCTAATKCAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTAT
GGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCA
AGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTGYGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAA
CAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGG
GACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAGGTCATGGACAGTGTAATTGCGGAAGATGTGACTGCAAAGCAGGCTGGTATGGGA
AGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGCTGAGGAGAGCATCAGGAAGTGCCAGGGAAGCTCGGATCTGCCTTGCTCTGGGAGGGGTAAATG
TGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGATCGCCGGGTGTATGGCAAGACTTGTGAGTGTGATGATCGCCGCTGTGAAGACCTCGATGGTGTG
GTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCYRCGGAAGTGTAACATGACGG
AAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGARGAGTG
GTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAAACTGT
GAATGCTGGGATGGATGGAATGGAAATGCATGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCT
GGGCCATTAGAACAKATAAATGCGAAGGAAACCATGTATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAAT
GAAATCCGAGTACCTATTAGAAATGAGTTATGCAAATTTAGATGCAAATAACRTTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACG
AGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACATCTACAGACAATTTTGATTGTCACACTGGGTCGGGTAGGAAGGTATGCTGCAGACATTTGGTGG
GTAGAGGCCAGGGATGCTGCTGAGCATCCCGCAGTGTACAGGACAGCCCCCAAACAAGGAATTATCCAGCCCCAAATGCCAATAGGGCTCAAACTGAGAA
ACATTGAGTTATATGGCTATTAGAAATCCACATTCTTACACAAGAAAGACCATATTAGAATCTAAGGAAAACATGCATATTCACATTAATTAATCGATCA
GATTTTTCCAGAATTCCGTATCAGTCACCATTTTAATATGGGGACAATGAAGACAAGCACACAGGAGGTAGAATATCAGAGTGGGGCTGGATCAAGGGCA
AAAACTGGTCATTAAGTCATCTGACATTAAATCATTTAGCCACTAAGTTATTTGTCTACTCTCACTTTAAACTCACCAAAGAAGATTCTCTTAAAGAAAT
TATGAAAAATGTACAATTTAACATTTTAAATAAATAGTGACAGAAGTTGTTTATA

Protein Sequence    (SEQ ID NO:1215):
MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACRLSRAESERRCRAPGQPPGAALCHGRGRCDCGVCICHVTEPGMFFGPLCECHEWVCETYD
GSTCAGHGKCDCGKCKCDQGWYGDACQYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVYGKFCECDDRECIDDETEEICGGHGKC
YCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICSNRGTCVCGECTCHDVDPTGDWGDIHGDTCECDERDCRAVYDRYSDDFCSGHGQCNCGRCD
CKAGWYGKKCEHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCYPPGDRRVYGKTCECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQH
PRKCNMTEEQSKNLCESADGILCSGKGSCHCGKCICSAEEWYISGEFCDCDDRDCDKHDGLICTGNGICSCGNCECWDGWNGNACEIWLGSEYP


SNP Information

Context             (SEQ ID NO:9313):
GTCTGCATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGCCCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAG
R
CCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGT
Celera SNP ID:            hCV25611066
SNP Position Transcript:  595
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 106, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 106, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:9314):
CCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAGGCTGTCCCGGGCCGAGTC
S
GAGCGACGCTGCCGCGCACCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGCATCTGCCACGTGACTGAGC
Celera SNP ID:            hCV12128053
SNP Position Transcript:  419
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,7)      total(G,7|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1215, 47, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:9315):
TGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATC
Y
GCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGC
Celera SNP ID:            hCV25611083
SNP Position Transcript:  1480
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 401, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9316):
ACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCTATTAGAAATGAGTTATGCAAATTTAGATGCAAATAAC
R
TTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACGAGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACATCTACAGACAATTTTGA
Celera SNP ID:            hCV11422462
SNP Position Transcript:  1953
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1215, None   



Context             (SEQ ID NO:9317):
ACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTG
Y
GATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACG
Celera SNP ID:            hCV25611068
SNP Position Transcript:  938
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1215, 220, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:9318):
ATGGAATGGAAATGCATGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCTGGGCCATTAGAACA
K
ATAAATGCGAAGGAAACCATGTATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCT
Celera SNP ID:            hCV7558983
SNP Position Transcript:  1815
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1215, None   



Context             (SEQ ID NO:9319):
GTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCC
R
CGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCA
Celera SNP ID:            hCV25611093
SNP Position Transcript:  1481
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1215, 401, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:9320):
TGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGA
R
GAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAA
Celera SNP ID:            hCV15877117
SNP Position Transcript:  1595
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,31|G,7)   total(A,63|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1215, 439, (E,GAA)   (E,GAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1215, 439, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:9321):
CCCAGCCATCTGCTGGTGGCACCTCTCCCTCCTGCCGCCTCCCTCGGTGAACCCCACCTTGCAGAAGTGCAGCTCGCCCGGAGCAGCCCAGGAGCTCAGC
R
TGCGTCCCCCAGGCTTCAGGAACTTCTTGCTGCTGGCGTCCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAG
Celera SNP ID:            hCV1806098
SNP Position Transcript:  279
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,6)   total(G,6|A,3) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1215, None   



Context             (SEQ ID NO:9322):
ATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAAT
K
CAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGA
Celera SNP ID:            hCV1806230
SNP Position Transcript:  738
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,3)   caucasian(G,32)   total(G,61|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 154, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,32|T,4)   caucasian(G,37|T,3)   total(G,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 154, (A,GCA)   (S,TCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|G,6)      total(G,6|T,2) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1215, 154, (A,GCA)   (S,TCA)      



Gene Number:                 203
Celera Gene:                 hCG29594 - 84000314003876
Celera Transcript:           hCT2301930 - 84000314003877
Public Transcript Accession: NM_004791
Celera Protein:              hCP1866056 - 197000069389190
Public Protein Accession:    NP_004782
Gene Symbol:                 ITGBL1
Protein Name:                integrin, beta-like 1 (with EGF-like repeat domains);OSCP;TIED
Celera Genomic Axis:         GA_x5YUV32W8MG(15200856..15464795)
Chromosome:                  Chr13
OMIM number:                 604234
OMIM Information:            INTEGRIN, BETA-LIKE 1;ITGBL1


Transcript Sequence (SEQ ID NO:519):
ACTCTCCACTGAGGGGTTTGGCACCAGCACCCCGCCCAGAGCAGTGCCGCTGCCCAAATCCTCGCAGGCAGCTCATCAACGCAATTGCAACTCCGGCTGG
AGCCCCGGACCTGCAAGCCTGGGTGTCCGTGGGTCCGTCTGCCCAGCCATCTGCTGGTGGCACCTCTCCCTCCTGCCGCCTCCCTCGGTGAACCCCACCT
TGCAGAAGTGCAGCTCGCCCGGAGCAGCCCAGGAGCTCAGCATGCGTCCCCCAGGCTTCAGGAACTTCTTGCTGCTGGCGTCCTCCCTTCTCTTTGCTGG
GTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAGGCTGTCCCGGGCCGAGTCSGAGCGACGCTGCCGCGCA
CCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGCATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGC
CCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAGRCCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGG
ATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAAT
KCAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAG
ACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTG
YGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCAC
GATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGGGACTGTAGAGCTGTCTATGACCGATATTCTGATGACT
TCTGTTCAGGTCATGGACAGTGTAATTGCGGAAGATGTGACTGCAAAGCAGGCTGGTATGGGAAGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGC
TGAGGAGAGCATCAGGAAGTGCCAGGGAAGCTCGGATCTGCCTTGCTCTGGGAGGGGTAAATGTGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGAT
CGCCGGGTGTATGGCAAGACTTGTGAGTGTGATGATCGCCGCTGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCT
GTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCYRCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGG
CATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGARGAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGA
GACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAAACTGTGAATGCTGGGATGGATGGAATGGAAATGCATGTGAAA
TCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCTGGGCCATTAGAACAKATAAATGCGAAGGAAACCATGT
ATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCTATTAGAAATGAGTTATGCAAAT
TTAGATGCAAATAACRTTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACGAGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACAT
CTACAGACAATTTTGATTGTCACACTGGGTCGGGTAGGAAGGTATGCTGCAGACATTTGGTGGGTAGAGGCCAGGGATGCTGCTGAGCATCCCGCAGTGT
ACAGGACAGCCCCCAAACAAGGAATTATCCAGCCCCAAATGCCAATAGGGCTCAAACTGAGAAACATTGAGTTATATGGCTATTAGAAATCCACATTCTT
ACACAAGAAAGACCATATTAGAATCTAAGGAAAACATGCATATTCACATTAATTAATCGATCAGATTTTTCCAGAATTCCGTATCAGTCACCATTTTAAT
ATGGGGACAATGAAGACAAGCACACAGGAGGTAGAATATCAGAGTGGGGCTGGATCAAGGGCAAAAACTGGTCATTAAGTCATCTGACATTAAATCATTT
AGCCACTAAGTTATTTGTCTACTCTCACTTTAAACTCACCAAAGAAGATTCTCTTAAAGAAATTATGAAAAATGTACAATTTAACATTTTAAATAAATAG
TGACAGAAGTTGTTTATA

Protein Sequence    (SEQ ID NO:1216):
MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACRLSRAESERRCRAPGQPPGAALCHGRGRCDCGVCICHVTEPGMFFGPLCECHEWVCETYD
GSTCAGHGKCDCGKCKCDQGWYGDACQYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVYGKFCECDDRECIDDETEEICGGHGKC
YCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICSNRGTCVCGECTCHDVDPTGDWGDIHGDTCECDERDCRAVYDRYSDDFCSGHGQCNCGRCD
CKAGWYGKKCEHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCYPPGDRRVYGKTCECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQH
PRKCNMTEEQSKNLCESADGILCSGKGSCHCGKCICSAEEWYISGEFCDCDDRDCDKHDGLICTGNGICSCGNCECWDGWNGNACEIWLGSEYP


SNP Information

Context             (SEQ ID NO:9323):
GTCTGCATCTGCCACGTGACTGAGCCGGGCATGTTCTTCGGGCCCCTGTGTGAGTGCCATGAGTGGGTGTGCGAGACCTACGACGGGAGCACCTGTGCAG
R
CCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGT
Celera SNP ID:            hCV25611066
SNP Position Transcript:  558
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 106, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 106, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:9324):
CCTCCCTTCTCTTTGCTGGGTTGTCAGCTGTTCCTCAAAGCTTCTCGCCATCTCTGAGGAGCTGGCCGGGCGCCGCCTGCAGGCTGTCCCGGGCCGAGTC
S
GAGCGACGCTGCCGCGCACCTGGGCAGCCCCCGGGGGCCGCGCTGTGCCACGGCCGGGGCCGCTGCGACTGCGGCGTCTGCATCTGCCACGTGACTGAGC
Celera SNP ID:            hCV12128053
SNP Position Transcript:  382
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,7)      total(G,7|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1216, 47, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:9325):
TGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATC
Y
GCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGC
Celera SNP ID:            hCV25611083
SNP Position Transcript:  1443
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 401, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9326):
ACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCTATTAGAAATGAGTTATGCAAATTTAGATGCAAATAAC
R
TTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACGAGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACATCTACAGACAATTTTGA
Celera SNP ID:            hCV11422462
SNP Position Transcript:  1916
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1216, None   



Context             (SEQ ID NO:9327):
ACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTG
Y
GATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACG
Celera SNP ID:            hCV25611068
SNP Position Transcript:  901
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1216, 220, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:9328):
ATGGAATGGAAATGCATGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCTGGGCCATTAGAACA
K
ATAAATGCGAAGGAAACCATGTATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCT
Celera SNP ID:            hCV7558983
SNP Position Transcript:  1778
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1216, None   



Context             (SEQ ID NO:9329):
GTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCC
R
CGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCA
Celera SNP ID:            hCV25611093
SNP Position Transcript:  1444
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1216, 401, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:9330):
TGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGA
R
GAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAA
Celera SNP ID:            hCV15877117
SNP Position Transcript:  1558
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,2)   caucasian(A,31|G,7)   total(A,63|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1216, 439, (E,GAA)   (E,GAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1216, 439, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:9331):
ATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAAT
K
CAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGA
Celera SNP ID:            hCV1806230
SNP Position Transcript:  701
SNP Source:               Applera
Population(Allele,Count): african american(G,29|T,3)   caucasian(G,32)   total(G,61|T,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 154, (A,GCA)   (S,TCA)   

SNP Source:               Applera
Population(Allele,Count): african american(G,32|T,4)   caucasian(G,37|T,3)   total(G,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 154, (A,GCA)   (S,TCA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,2|G,6)      total(G,6|T,2) ;no_pop(G,-|T,-)   ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1216, 154, (A,GCA)   (S,TCA)      



Gene Number:                 204
Celera Gene:                 hCG30023 - 208000044049213
Celera Transcript:           hCT1827849 - 208000044049216
Public Transcript Accession: 
Celera Protein:              hCP1698610 - 197000064954574
Public Protein Accession:    
Gene Symbol:                 GSDM
Protein Name:                gasdermin
Celera Genomic Axis:         GA_x5YUV32VU68(1650488..1665284)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:520):
GCATAAAGCAGCCTGTCCTGGCAAGGGATGGTCATCCTCTCAACCTACAGACCCAGTGAGCCCTAGGCCCTCARCCCAGACCCAGCTGCTGGATAGGACC
CAGCCCCGCTCCCAGAGACAATGACCATGTTTGAAAATGTCACCCGGGCCCTGGCCAGACAGCTAAACCCTCGAGGGGAYCTGACACCACTTGACAGRCT
CATCGACTTCAAGCGCTTCCATCCCTTCTGCCTGGTGCTGAGGAAGAGGAAGAGCACGCTCTTCTGGGGGGCCCGGTACGTCCGCACCGACTACACGCTG
CTGGATGTGCTTGAGCCCGGCAGCTCACCTTCRGACCCAACAGACACTGGGAATTTTGGCTTTAAGAATATGCTGGACACCCGAGTGGAGGGAGATGTGG
ATKTACCARAGACGGTGAAGGTGAAGGGAACGGCAGGGCTCTCGCAGAACAGCACTCTGGAGGTCCAGACACTCAGTGTGGCTCCCAAGGCCCTGGAGAC
CTTGCAGAAGAGGAAGCTGGCAGCAGACCACCCATTCCTGAAGGAGATGCAAGATCAAGGGGAGAACCTGTATGTGGTGATGGAGGTGGTGGAGACGGTG
CAGGAGGTCACACTGGAGCRAGCCGGCAAGGCAGAGGCCTGCTTCTCCCTCCCCTTCTTCGCCCCATTGGGGCTACAGGGATCCATAAATCACAAGGAGG
CTGTAACCATCCCCAAGGGCTGCGTCCTGGCCTTTCGAGTGAGACAGCTGATGGTCAAAGGCAAAGATGAGTGGGATATTCCACATATCTGCAATGATAA
CATGCAAACCTTCCCTCCTGGAGAAAAGTCAGGAGAGGAGAAGGTCATCCTTATCCAGGCATCTGATGTTGGGGACGTACACGAAGGCTTCAGGACACTA
AAAGAAGAAGTTCAGAGAGAGACYCAACAAGTGGAGAAGCTGAGCCGAGTAGGGCAAAGCTMCCTGCTCAGCTCCCTCAGCAAACTTCTAGGGAAGAAAA
AGGAGCTACAAGACCTTGAGCTCGCACTTGAAGGGGCTCTAGACAAGGGACATGAAGTGACCCTGGAGGCACTCCCAAAAGATGTCCTGCTATCAAAGGA
GGCCGTGGGCGCCATCCTCTATTTCGTTGGAGCCCTAACAGAGCTAAGTGAAGCCCAACAGAAGCTGCTGGTGAAATCCATGGAGAAAAAGATCCTACCC
GTGCAGCTAAAGCTGGTGGAGAGCACGATGGAACAGAACTTCCTGCTGGATAAAGAGGGTGTTTTCCCCCTGCAACCTGAGCTGCTCTCCTCCCTTGGGG
ACGAGGAGCTGACCCTCACGGAGGCTCTAGTCGGGCTGAGTGGCCTGGAAGTGCAGAGATCGGGCCCCCAATATATGTGGGACCCAGACACCCTCCCTCG
CCTCTGTGCTCTTTATGCAGGCCTCTCTCTCCTTCAGCAGCTTACCAAGGCCTCCTAATTTGCCTTTTACGTCTGCTTCATGACTCCCTAATGCCTTCCC
AACCTCGTGGTGCTGTGTCCTTACCACCTAAGGGCATTTCAGAGCCATCAGCTGAAGACATCTGAAATCTCAGCTGGTCACCCATGATAACCAACTTCCA
CCTGCCCAACCATATATCACCCCCTACCCCTCCAGCTCCGCAACCCACTAAGCCCATCTGCTGATGCTTAAATTTTCTTTACTTTTCTTTTCTTTTTTTT
TTTTTTTTTGAGATGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCT
CCTGCCTCAGCCTCTCGAGCAGCTGGAATTACAGGCACGTGCCACGACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCC
AGGTTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGTGCTTAA
ATATTCTAGGAGTAGAAGCACTCAGACTTTTAAAACTATGAGCCGTTTCAGCAAAACTGAGAAAAAAAGAAGATTAATTAATTTCCTATCCTAATCCCTC
CTACTTATACTTCCCCAAAAAACAAGCTTTACTGGAATTAATGGAAAATATTATGTCAATCTTAGG

Protein Sequence    (SEQ ID NO:1217):
MTMFENVTRALARQLNPRGDLTPLDSLIDFKRFHPFCLVLRKRKSTLFWGARYVRTDYTLLDVLEPGSSPSDPTDTGNFGFKNMLDTRVEGDVDVPKTVK
VKGTAGLSQNSTLEVQTLSVAPKALETLQKRKLAADHPFLKEMQDQGENLYVVMEVVETVQEVTLERAGKAEACFSLPFFAPLGLQGSINHKEAVTIPKG
CVLAFRVRQLMVKGKDEWDIPHICNDNMQTFPPGEKSGEEKVILIQASDVGDVHEGFRTLKEEVQRETQQVEKLSRVGQSSLLSSLSKLLGKKKELQDLE
LALEGALDKGHEVTLEALPKDVLLSKEAVGAILYFVGALTELSEAQQKLLVKSMEKKILPVQLKLVESTMEQNFLLDKEGVFPLQPELLSSLGDEELTLT
EALVGLSGLEVQRSGPQYMWDPDTLPRLCALYAGLSLLQQLTKAS


SNP Information

Context             (SEQ ID NO:9332):
GGATGTGCTTGAGCCCGGCAGCTCACCTTCAGACCCAACAGACACTGGGAATTTTGGCTTTAAGAATATGCTGGACACCCGAGTGGAGGGAGATGTGGAT
K
TACCAAAGACGGTGAAGGTGAAGGGAACGGCAGGGCTCTCGCAGAACAGCACTCTGGAGGTCCAGACACTCAGTGTGGCTCCCAAGGCCCTGGAGACCTT
Celera SNP ID:            hCV25612634
SNP Position Transcript:  403
SNP Source:               Applera
Population(Allele,Count): african american(G,7|T,23)   caucasian(G,8|T,6)   total(G,15|T,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 128, (V,GTG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,7)      total(G,1|T,7) ;no_pop(G,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 128, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:9333):
GCTTGAGCCCGGCAGCTCACCTTCAGACCCAACAGACACTGGGAATTTTGGCTTTAAGAATATGCTGGACACCCGAGTGGAGGGAGATGTGGATGTACCA
R
AGACGGTGAAGGTGAAGGGAACGGCAGGGCTCTCGCAGAACAGCACTCTGGAGGTCCAGACACTCAGTGTGGCTCCCAAGGCCCTGGAGACCTTGCAGAA
Celera SNP ID:            hCV25612635
SNP Position Transcript:  409
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,20)   caucasian(A,7|G,17)   total(A,17|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 130, (K,AAG)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 130, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9334):
GCATAAAGCAGCCTGTCCTGGCAAGGGATGGTCATCCTCTCAACCTACAGACCCAGTGAGCCCTAGGCCCTCA
R
CCCAGACCCAGCTGCTGGATAGGACCCAGCCCCGCTCCCAGAGACAATGACCATGTTTGAAAATGTCACCCGGGCCCTGGCCAGACAGCTAAACCCTCGA
Celera SNP ID:            hCV1385736
SNP Position Transcript:  74
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,12|G,20)   total(A,22|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 18, (Q,CAA)   (R,CGA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,6)      total(G,6|A,3) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 18, (Q,CAA)   (R,CGA)      18, (R,CGA)   (Q,CAA)      



Context             (SEQ ID NO:9335):
AAAAGTCAGGAGAGGAGAAGGTCATCCTTATCCAGGCATCTGATGTTGGGGACGTACACGAAGGCTTCAGGACACTAAAAGAAGAAGTTCAGAGAGAGAC
Y
CAACAAGTGGAGAAGCTGAGCCGAGTAGGGCAAAGCTCCCTGCTCAGCTCCCTCAGCAAACTTCTAGGGAAGAAAAAGGAGCTACAAGACCTTGAGCTCG
Celera SNP ID:            hCV25757511
SNP Position Transcript:  924
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,32)   total(C,65|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1217, 301, (L,CTC)   (L,CTT)   



Context             (SEQ ID NO:9336):
TCTGATGTTGGGGACGTACACGAAGGCTTCAGGACACTAAAAGAAGAAGTTCAGAGAGAGACCCAACAAGTGGAGAAGCTGAGCCGAGTAGGGCAAAGCT
M
CCTGCTCAGCTCCCTCAGCAAACTTCTAGGGAAGAAAAAGGAGCTACAAGACCTTGAGCTCGCACTTGAAGGGGCTCTAGACAAGGGACATGAAGTGACC
Celera SNP ID:            hCV25612646
SNP Position Transcript:  962
SNP Source:               Applera
Population(Allele,Count): african american(A,11|C,23)   caucasian(A,11|C,21)   total(A,22|C,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 314, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:9337):
ACCCAGCTGCTGGATAGGACCCAGCCCCGCTCCCAGAGACAATGACCATGTTTGAAAATGTCACCCGGGCCCTGGCCAGACAGCTAAACCCTCGAGGGGA
Y
CTGACACCACTTGACAGCCTCATCGACTTCAAGCGCTTCCATCCCTTCTGCCTGGTGCTGAGGAAGAGGAAGAGCACGCTCTTCTGGGGGGCCCGGTACG
Celera SNP ID:            hCV25612613
SNP Position Transcript:  180
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,31|T,1)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1217, 53, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:9338):
ACCCAGCCCCGCTCCCAGAGACAATGACCATGTTTGAAAATGTCACCCGGGCCCTGGCCAGACAGCTAAACCCTCGAGGGGACCTGACACCACTTGACAG
R
CTCATCGACTTCAAGCGCTTCCATCCCTTCTGCCTGGTGCTGAGGAAGAGGAAGAGCACGCTCTTCTGGGGGGCCCGGTACGTCCGCACCGACTACACGC
Celera SNP ID:            hCV25612614
SNP Position Transcript:  198
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,1|G,33)   total(A,9|G,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1217, 59, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9339):
GCAGCAGACCACCCATTCCTGAAGGAGATGCAAGATCAAGGGGAGAACCTGTATGTGGTGATGGAGGTGGTGGAGACGGTGCAGGAGGTCACACTGGAGC
R
AGCCGGCAAGGCAGAGGCCTGCTTCTCCCTCCCCTTCTTCGCCCCATTGGGGCTACAGGGATCCATAAATCACAAGGAGGCTGTAACCATCCCCAAGGGC
Celera SNP ID:            hCV25612623
SNP Position Transcript:  620
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,32)   total(A,1|G,63)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1217, 200, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:9340):
TGGTGCTGAGGAAGAGGAAGAGCACGCTCTTCTGGGGGGCCCGGTACGTCCGCACCGACTACACGCTGCTGGATGTGCTTGAGCCCGGCAGCTCACCTTC
R
GACCCAACAGACACTGGGAATTTTGGCTTTAAGAATATGCTGGACACCCGAGTGGAGGGAGATGTGGATGTACCAAAGACGGTGAAGGTGAAGGGAACGG
Celera SNP ID:            hCV25612624
SNP Position Transcript:  333
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,32)   total(A,1|G,65)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1217, 104, (T,ACA)   (T,ACG)   



Gene Number:                 205
Celera Gene:                 hCG31412 - 63000132726743
Celera Transcript:           hCT22591 - 63000132726744
Public Transcript Accession: 
Celera Protein:              hCP45140 - 197000064954460
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VU68(848868..854114)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:521):
ATGGGACAGCTGATCGCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCAYCATTCTCT
ACCGGTTCTTGACCARTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACRTGGAGGAGATCATTCTGCYGAAGACCCACTTCTTCMTGTGGGACAT
AGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGKCTGCTG
ACCACYCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACRGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGA
GGATGGTGGAGATCTCCCATTTCCTTACTCTCAGCACCATCAAAGACCACTCGTGGCATATACAAGGCTGCTGTGCCCTCACCAGGGAAGGGTTAGTGGC
TGCCCTACCTGGATCTYTAGGGCCTGGCTGA

Protein Sequence    (SEQ ID NO:1218):
MGQLIAKLMSIFGNQEHTVIIVGLDNEGKTTILYRFLTSEVVHMCPTIGSNVEEIILPKTHFFLWDIVRPEALSFIWNTYYSNTEFIILVIDSTDRDRLL
TTREELYKMLAHEALQDASVLIFANKQDVKDSMRMVEISHFLTLSTIKDHSWHIQGCCALTREGLVAALPGSLGPG


SNP Information

Context             (SEQ ID NO:9341):
GGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAAC
R
TGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGA
Celera SNP ID:            hCV540415
SNP Position Transcript:  154
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,4|G,36)   total(A,7|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 52, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 52, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9342):
ATGGGACAGCTGATCGCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCA
Y
CATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTG
Celera SNP ID:            hCV27830299
SNP Position Transcript:  92
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,2)   caucasian(C,12)   total(C,32|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 31, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9343):
CCATTTCCTTACTCTCAGCACCATCAAAGACCACTCGTGGCATATACAAGGCTGCTGTGCCCTCACCAGGGAAGGGTTAGTGGCTGCCCTACCTGGATCT
Y
TAGGGCCTGGCTGA
Celera SNP ID:            hCV2960023
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,37|T,1)   total(C,68|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1218, 173, (L,CTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1218, 173, (L,CTA)   (L,TTA)      



Context             (SEQ ID NO:9344):
GACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGC
Y
GAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATT
Celera SNP ID:            hCV25968629
SNP Position Transcript:  173
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 58, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9345):
CACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTC
M
TGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGA
Celera SNP ID:            hCV2960035
SNP Position Transcript:  190
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,13)   caucasian(A,35|C,5)   total(A,60|C,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 64, (M,ATG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 64, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:9346):
GGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCG
K
CTGCTGACCACTCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACAGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACT
Celera SNP ID:            hCV2960028
SNP Position Transcript:  294
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,11)   caucasian(G,40)   total(G,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1218, 98, (R,CGG)   (R,CGT)   



Context             (SEQ ID NO:9347):
AACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGGCTGCTGACCACTCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTAC
R
GGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGAGGATGGTGGAGATCTCCCATTTCCTTACTCTCAGCACCATCAAAGAC
Celera SNP ID:            hCV540411
SNP Position Transcript:  347
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,36|G,4)   total(A,70|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 116, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 116, (Q,CAG)   (R,CGG)      116, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:9348):
GCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCA
R
TGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCT
Celera SNP ID:            hCV2960036
SNP Position Transcript:  116
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,25)   caucasian(A,35|G,5)   total(A,46|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 39, (N,AAT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1218, 39, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:9349):
GACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGGCTGCTGACCAC
Y
CGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACAGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGAGGATGG
Celera SNP ID:            hCV25965389
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,2|T,38)   total(C,2|T,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1218, 102, (T,ACC)   (T,ACT)   



Gene Number:                 205
Celera Gene:                 hCG31412 - 63000132726743
Celera Transcript:           hCT2326879 - 63000132726753
Public Transcript Accession: 
Celera Protein:              hCP1811820 - 197000064954461
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VU68(845222..854114)
Chromosome:                  Chr17
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:522):
ATGGGACAGCTGATCGCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCAYCATTCTCT
ACCGGTTCTTGACCARTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACRTGGAGGAGATCATTCTGCYGAAGACCCACTTCTTCMTGTGGGACAT
AGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGKCTGCTG
ACCACYCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACRGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGA
GGATGGTGGAGATCTCCCATTTCCTTACTCTCAGCACCATCAAAGACCACTCGTGGCATATACAAGGCTGCTGTGCCCTCACCAGGGAAGGGCTGCCTGC
CAGACTTCAGTGGATGGAATCTCAGGCCGCTGCTAAC

Protein Sequence    (SEQ ID NO:1219):
MGQLIAKLMSIFGNQEHTVIIVGLDNEGKTTILYRFLTSEVVHMCPTIGSNVEEIILPKTHFFLWDIVRPEALSFIWNTYYSNTEFIILVIDSTDRDRLL
TTREELYKMLAHEALQDASVLIFANKQDVKDSMRMVEISHFLTLSTIKDHSWHIQGCCALTREGLPARLQWMESQAAAN


SNP Information

Context             (SEQ ID NO:9350):
GGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAAC
R
TGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGA
Celera SNP ID:            hCV540415
SNP Position Transcript:  154
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(A,4|G,36)   total(A,7|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 52, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 52, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9351):
ATGGGACAGCTGATCGCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCA
Y
CATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTG
Celera SNP ID:            hCV27830299
SNP Position Transcript:  92
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,2)   caucasian(C,12)   total(C,32|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 31, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:9352):
GACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGC
Y
GAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATT
Celera SNP ID:            hCV25968629
SNP Position Transcript:  173
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 58, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:9353):
CACCATTCTCTACCGGTTCTTGACCAGTGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTC
M
TGTGGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGA
Celera SNP ID:            hCV2960035
SNP Position Transcript:  190
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,13)   caucasian(A,35|C,5)   total(A,60|C,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 64, (M,ATG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 64, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:9354):
GGGACATAGTGAGACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCG
K
CTGCTGACCACTCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACAGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACT
Celera SNP ID:            hCV2960028
SNP Position Transcript:  294
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,11)   caucasian(G,40)   total(G,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1219, 98, (R,CGG)   (R,CGT)   



Context             (SEQ ID NO:9355):
AACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGGCTGCTGACCACTCGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTAC
R
GGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGAGGATGGTGGAGATCTCCCATTTCCTTACTCTCAGCACCATCAAAGAC
Celera SNP ID:            hCV540411
SNP Position Transcript:  347
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,36|G,4)   total(A,70|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 116, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 116, (Q,CAG)   (R,CGG)      116, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:9356):
GCCAAGTTAATGAGCATCTTCGGGAACCAGGAGCACACGGTCATCATCGTGGGACTGGACAATGAAGGAAAGACCACCATTCTCTACCGGTTCTTGACCA
R
TGAGGTGGTCCATATGTGTCCCACCATTGGCAGCAACGTGGAGGAGATCATTCTGCCGAAGACCCACTTCTTCCTGTGGGACATAGTGAGACCTGAGGCT
Celera SNP ID:            hCV2960036
SNP Position Transcript:  116
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,25)   caucasian(A,35|G,5)   total(A,46|G,30)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 39, (N,AAT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1219, 39, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:9357):
GACCTGAGGCTCTGAGCTTTATCTGGAACACATACTACTCCAACACTGAGTTTATCATCCTTGTGATTGACAGCACGGACCGGGATCGGCTGCTGACCAC
Y
CGGGAGGAGCTATATAAAATGCTGGCCCATGAGGCTCTACAGGATGCTTCAGTCCTGATATTTGCCAATAAGCAGGACGTGAAGGACTCCATGAGGATGG
Celera SNP ID:            hCV25965389
SNP Position Transcript:  306
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,2|T,38)   total(C,2|T,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1219, 102, (T,ACC)   (T,ACT)   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT2328479 - 83000099460943
Public Transcript Accession: NM_000646
Celera Protein:              hCP1788569 - 197000064921210
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768927)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:523):
CCCGGAAGTGGGCCAGAGGTACGGTCCGCTCCCACCTGGGGCGAGTGCGCGCACGGCCAGGTTGGGTACCGGGTGCGCCCAGGAACCCGCGCGAGGCGAA
GTCGCTGAGACTCTGCCTGCTTCTCACCCAGCTGCCTCGGCGCTGCCCCGGTCGCTCGCCGCCCCTCCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGG
GCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCCSCGACCGTAGCACCAGAGTCGCGGGTCCTGCAGT
GCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTRGAAGCCAAA
ATGGGACACAGTAAAYAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCC
GATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTG
GGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAG
AAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCAGACATTTTTAG
CTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGG
ACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTA
GTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGAACATCCAGAAT
GTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAA
AGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTYTGGGAA
TTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTA
CGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAAT
TGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTT
TTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCAT
TTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCC
TCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAG
GACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTSAACACCTCTTC
ACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTT
TGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCT
GTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGC
ATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCA
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
KCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGG
CAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCC
TCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAAT
GGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAAT
ATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTYG
AAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCC
AGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCC
TTAAATATGCMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGAGA
TTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAG
ATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTC
AGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAAT
GGATGTAYCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGC
TGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCC
TGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTA
CTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGAT
CAGCCATTGTTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGA
AGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGG
AGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTG
CTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAA
TACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGA
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
TGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATG
CATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATA
TTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGG
AAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATG
ATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTT
TAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGA
AAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTCTA
TTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAA
TACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAG
TTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACA
GTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGA
GTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAAC
TATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAAT
CTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCT
TAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTT
TTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCT
AATAAAATAATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAA
TTAMAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTT
TAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCC
TACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTG
TTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTAC
CCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAA
TTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAA
AACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTA
TTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAA
GGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTG
TGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTC
TTGAACTACTGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1220):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKVVLSASQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSIN
GTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLAS
RLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQ
IPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFR
CWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLD
QPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWL
LELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKA
WKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPW
KGLPELTNENAQYCPFSCETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9358):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  607
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1220, 69, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9359):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  771
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 124, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9360):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3294
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 965, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9361):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3211
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1220, 937, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9362):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  1086
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9363):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4258
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1220, 1286, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9364):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1555
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 385, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9365):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 387, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9366):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2999
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 867, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9367):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGC
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2501
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 701, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9368):
CGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  416
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 6, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:9369):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1989
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 530, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9370):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4751
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1451, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9371):
CCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGGGCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCC
S
CGACCGTAGCACCAGAGTCGCGGGTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTC
Celera SNP ID:            hCV27853782
SNP Position Transcript:  267
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|G,3)   total(C,61|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1220, None



Context             (SEQ ID NO:9372):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3853
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1151, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9373):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1294
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1220, 298, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1220, 298, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9374):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5280
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9375):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7320
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9376):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7369
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9377):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5740
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9378):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  4061
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1221, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9379):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3608
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1070, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1070, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1070, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9380):
GTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:            hCV11894038
SNP Position Transcript:  391
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1220, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9381):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6549
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9382):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  512
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 38, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9383):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  4028
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1210, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1210, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9384):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3840
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1147, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9385):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6304
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9386):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6232
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Context             (SEQ ID NO:9387):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3752
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1118, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1220, 1118, (R,AGA)   (G,GGA)      1118, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9388):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  6036
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1220, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT2328473 - 83000099460757
Public Transcript Accession: NM_000646
Celera Protein:              hCP1788564 - 197000064921205
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768522)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:524):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTRGAAGCCAAAAT
GGGACACAGTAAAYAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGA
TTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGG
AAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAA
AAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCAGACATTTTTAGCT
AAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGGAC
TATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGT
GGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGAACATCCAGAATGT
GCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAG
AAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTYTGGGAATT
TTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACG
ATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTG
AAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTT
GGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTT
GAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTC
TTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGA
CTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTSAACACCTCTTCAC
GTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTG
TTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGT
TGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGCAT
AGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGA
TTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAKC
CAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGA
CACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCA
TCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGA
TATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAA
ATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTYGAAATCATCTGA
CACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTT
GGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCM
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGAGATTGGATGATTG
ACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTA
CCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCA
ACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTAYCTT
ATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAG
GGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGT
CTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGG
TTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTT
TGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGT
TTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACA
GAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATC
CAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAAC
TTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAG
CTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTT
GGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAAT
GACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGAT
TGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCC
AGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTT
ATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCA
TTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCA
TTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTCTATTTGTACAGAA
ATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTGGT
TCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCTAC
AATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTAT
ATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGA
TAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTC
ATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAA
TATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAA
AAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAA
ACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAAT
GGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAMAGAAGAA
AACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCT
GCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAA
GGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATA
CCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGA
TATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCA
CAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGT
TCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATG
GTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATT
TCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAA
TAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTG
TGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1221):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9389):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  405
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1221, 69, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9390):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  569
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 124, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9391):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3083
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 962, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9392):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3000
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1221, 934, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9393):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  884
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9394):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4047
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1221, 1283, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9395):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1353
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 385, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9396):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1358
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 387, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9397):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2788
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 864, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9398):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2299
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 701, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9399):
GAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  214
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 6, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:9400):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1787
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 530, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9401):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4540
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1448, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9402):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3642
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1148, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9403):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1092
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1221, 298, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1221, 298, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9404):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5069
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9405):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7109
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9406):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7158
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9407):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5529
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9408):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  3850
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1218, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9409):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3397
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1067, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1067, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1067, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9410):
GGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:            hCV11894038
SNP Position Transcript:  189
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1221, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9411):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6338
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9412):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  310
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 38, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9413):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  3817
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1207, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1207, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9414):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3629
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1144, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9415):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6093
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9416):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6021
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Context             (SEQ ID NO:9417):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3541
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1115, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1221, 1115, (R,AGA)   (G,GGA)      1115, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9418):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  5825
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1221, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT2328478 - 83000099460831
Public Transcript Accession: NM_000646
Celera Protein:              hCP1788566 - 197000064921207
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768522)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:525):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAARTGGGACACAGTAAAYAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGAC
CCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGA
GAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAAT
CTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGT
GCTACCCTWGGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGC
TACAACATGATTCATTTTACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGAC
CTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATAC
TGCTGCTAATAGTAAATGGATCCRGGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTT
TGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAA
TTTGGGAGGATATTTTTCCAAAGCTTAAACTYTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAA
TAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTA
ACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRAC
TCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAG
AAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTT
CTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGG
GAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCA
GGGAGTACGTCTTGATAACTGCCACTSAACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCT
GAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATG
AAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTT
TATGGATATTACGCATGATAATGAGTGTCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGT
GGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAA
ACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAKCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTA
TGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCC
AAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAAC
CTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGC
TGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCA
CATGCACAAGTCGCTGTTGGAATTCTTYGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATAT
TAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGG
GTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCAT
CCTTTTTGTAATAATTTGAGATSTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGT
TGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATAC
AGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCT
TCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTAYCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCT
TACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAG
GAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTG
TGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATT
CTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAA
TGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTC
AATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGG
GCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAA
GGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAAT
CTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGG
CCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGA
TATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCT
ATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGAC
ATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTC
AATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAA
TGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATG
TACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGT
TTGGAAAAKAAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATA
TATAATCTTCAGTAACAATACATACTGAATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATA
AATATTTAATAAATGATGAATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATA
TATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGT
TTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAG
AATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCT
ACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGA
TAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTA
GATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCT
ATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACA
TACCCAAAACCTTAACTATGACTAAGAAATTAMAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATAC
CCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCT
GGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAA
TCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTAT
CAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAA
TCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTA
AATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTT
TAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGA
ATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATG
ATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACA
TGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTA
AAGGTCTGTA

Protein Sequence    (SEQ ID NO:1222):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9419):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  345
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1222, 69, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9420):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  509
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 124, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9421):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3023
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 962, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9422):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  2940
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1222, 934, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9423):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  824
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9424):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  3987
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1222, 1283, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9425):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1293
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 385, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9426):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1298
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 387, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9427):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2728
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 864, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9428):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2239
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 701, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9429):
CCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  154
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 6, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:9430):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1727
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 530, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9431):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4480
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1448, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9432):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3582
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1148, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9433):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1032
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1222, 298, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1222, 298, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9434):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5009
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9435):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7049
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9436):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7098
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9437):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5469
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9438):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  3790
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1218, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9439):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3337
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1067, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1067, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1067, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9440):
CCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAA
R
TGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCG
Celera SNP ID:            hCV11894038
SNP Position Transcript:  139
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1222, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9441):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6278
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9442):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  250
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 38, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9443):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  3757
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1207, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1207, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9444):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3569
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1144, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9445):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6033
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9446):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  5961
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Context             (SEQ ID NO:9447):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3481
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1115, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1222, 1115, (R,AGA)   (G,GGA)      1115, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9448):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  5765
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1222, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT1814575 - 83000099460719
Public Transcript Accession: NM_000646
Celera Protein:              hCP1769436 - 197000064921204
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768036)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:526):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTRGAAGCCAAAATGGGACACAGTAAAYAGATTCGAATTTTACT
TCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGTCTCACTATGTTGCCCAGGTTGATATTGAACTCCTGGACTCA
AGCAACCCTCCCTCTTTGGCCTCTGAAAGTACTGGGATTACAAGCATAAGCCACCGGGCATGGCCCCAATTCTGAGCATTAATTTATTTATTGGGTATGA
GCTACAGTTCCGATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTYTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTS
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAKCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGT
GGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTG
CCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCA
ATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGA
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
YGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCT
CCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGC
CCTTAAATATGCMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGA
GATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGC
AGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGT
TCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTA
ATGGATGTAYCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCC
GCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTAC
CCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGAT
TACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGG
ATCAGCCATTGTTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACAT
GAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATG
GGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGT
TGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAA
AATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAA
GATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAG
CATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAA
TGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTA
TATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTT
GGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTA
TGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGT
TTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCA
GAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTC
TATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTG
AATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGA
AGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAA
CAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATT
GAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCA
ACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGA
ATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAAT
CTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTG
TTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATAC
CTAATAAAATAATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGA
AATTAMAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTAC
TTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAAT
CCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCT
TGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGT
ACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAA
AATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAG
AAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACAT
TATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGAT
AAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGC
TGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATG
TCTTGAACTACTGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1223):
MAPILSINLFIGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVG
ADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDV
VYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRL
LTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKL
GPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEIT
ATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAI
AHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKG
FIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESK
IVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEK
EDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYT
TLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGR
YVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQ
FRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRH
GKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKT
LDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCE
TQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9449):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  418
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1223, 53, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9450):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 108, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9451):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3096
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 946, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9452):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3013
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1223, 918, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9453):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  897
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 213, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9454):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4060
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1223, 1267, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9455):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 369, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9456):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1371
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 371, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9457):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2801
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 848, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9458):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 685, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9459):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGTCTCACTATGTTGCCCAGGTTGATAT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  84
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9460):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1800
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 514, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9461):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4553
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1432, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9462):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3655
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1132, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9463):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1105
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1223, 282, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1223, 282, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9464):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5082
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9465):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7122
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9466):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7171
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9467):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5542
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9468):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  3863
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1202, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9469):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3410
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1051, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1051, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1051, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9470):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGT
Celera SNP ID:            hCV11894038
SNP Position Transcript:  59
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1223, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9471):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6351
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9472):
CTGAAAGTACTGGGATTACAAGCATAAGCCACCGGGCATGGCCCCAATTCTGAGCATTAATTTATTTATTGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  323
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 22, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9473):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  3830
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1191, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1191, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9474):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3642
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1128, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9475):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6106
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9476):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6034
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Context             (SEQ ID NO:9477):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3554
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1099, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1223, 1099, (R,AGA)   (G,GGA)      1099, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9478):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  5838
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1223, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT2328477 - 83000099460907
Public Transcript Accession: NM_000646
Celera Protein:              hCP1788568 - 197000064921209
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3757791)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:527):
TGTATAAGAATTTGCACATCCCAAGTTGCTATGTGAATAGGAATGCGTTTCCAGGGGAAGGAGAAAGAGACATTACAGAGCAGACAGCTCTATGATGTTT
ACTATACTTGCTAAAATGTGAAATTCAGCTAAATTGGAATACAAAGTAGTGCCAAAACAGCATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAAT
CAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTAYGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGA
GCTACAGTTCCGATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTYTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTS
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAKCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGA
AGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGC
AAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGA
ATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGG
GCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTT
GGAATTCTTYGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTT
CTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAA
CTGGTCAGCCCTTAAATATGCMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTG
AGATSTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCT
ACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTC
AAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCA
CCTGCCCTAATGGATGTAYCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTG
GTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATT
TGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGT
ATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTG
GCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGA
TCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATG
GATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTG
TTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTG
GAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGC
ATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTA
CAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAAT
TTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGT
GCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGA
GATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGA
GACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGC
TCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAA
TTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCAT
GTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAA
TACATACTGAATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATG
AATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAAT
GAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTG
AGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTC
TAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACA
TTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGC
CTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGT
TTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCT
CATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTA
TGACTAAGAAATTAMAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGT
GTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAAT
AGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAG
TTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTT
TGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGT
GACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTG
TTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCAT
GTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTG
ATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGT
TTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATT
TCTGATATGTCTTGAACTACTGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1224):
MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGA
DNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVV
YNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLL
TQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLG
PVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITA
TYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIA
HALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKVV
LSASQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNE
SKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESE
EKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGA
YTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLIT
GRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQG
IQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVK
RHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGM
KTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFS
CETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9479):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  418
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1224, 52, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9480):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 107, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9481):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3105
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 948, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9482):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3022
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1224, 920, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9483):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  897
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 212, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9484):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4069
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1224, 1269, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9485):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 368, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9486):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1371
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 370, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9487):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2810
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 850, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9488):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGC
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 684, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9489):
CATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAATCAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTA
Y
GATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTAC
Celera SNP ID:            hCV16195671
SNP Position Transcript:  261
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,17)   caucasian(C,26|T,4)   total(C,47|T,21)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1224, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9490):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1800
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 513, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9491):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4562
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1434, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9492):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3664
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1134, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9493):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1105
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1224, 281, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1224, 281, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9494):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5091
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9495):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7131
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9496):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9497):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5551
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9498):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  3872
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1204, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9499):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3419
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1053, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1053, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1053, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9500):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6360
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9501):
TAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  323
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 21, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9502):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  3839
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1193, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1193, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9503):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3651
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1130, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9504):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6115
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9505):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6043
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Context             (SEQ ID NO:9506):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3563
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1101, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1224, 1101, (R,AGA)   (G,GGA)      1101, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9507):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  5847
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1224, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT23065 - 83000099460681
Public Transcript Accession: NM_000646
Celera Protein:              hCP45417 - 197000064921203
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768522)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:528):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTGTAAGCAGAAGTGCCATTCGGAGTCTCCAGAGCCCTGTGGCTTGGGGCTGGGAATGTCCCCCTGACTTCA
GGCTTTCCTAAGTGTATTGCTTTTCTCTGAGAATGGTCTAGGTTTTTAATTTTTTAATTGTAAGAATCTGTAATACAGCATTTTTATTTCGGTCTTATTC
GTTGTGCTCAAAGGCAGGAAACAACTATTAATTTGCCTTCTCGAATCTTAATAGTTATAAGATTCATTCTCTTTCATTGCTCTGCTAGGCATAAAACACA
CTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTRGAAGCCAAAATGGGACACAGTAAAYAGATTC
GAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCARCTTTACAGGG
AAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAAYCCAACAGAAAGAGAA
GATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAG
TTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGA
TGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCC
CTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAAT
GGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGAACATCCAGAATGTGCCTATAATCTTGTGAATTC
TCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAGAAAAGGGAATACCTGCTTTG
ATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTYTGGGAATTTTTCCAAGTAGATGTCAACA
AAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATA
CAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTT
CATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAAC
GACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCAT
GGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTCTTCGAAACTTTGCTGAACCG
GGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGACTGTCCTTATCTCTGGGCAC
ACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTSAACACCTCTTCACGTAGCTGAGTACATGTTGGA
TGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTGTTACTAGACTGGGCATTAGT
TCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGTTGGATCCTTTGTTCAGCCCT
GTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGCATAGATCAGCGTATGATGCTCT
TCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAA
CGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAKCCAGGTGTGCTATCAGTAAAC
TTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCA
GTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAA
GTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAG
AACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTC
TCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTYGAAATCATCTGACACAATTCAGTCCTCACTTT
AAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCC
TTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCMGGTCTTCAAGGTTTAATGTC
TGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTT
ATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTG
ATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTC
ATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTAYCTTATAGGTTAAATGAGATCACA
AAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTA
GAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGG
TGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATT
CTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAARCAA
TGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGT
TGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATC
CCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTT
ATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGT
TTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGAC
TATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAAT
TGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAA
AGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACT
GCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATG
CCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGC
AATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCT
CAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTG
AGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAA
TAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTGGTTCATTAATATTAACACCACG
TACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGA
GCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGA
AACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATG
GAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCT
AGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAG
ATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACA
TTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCAT
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
YTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAMAGAAGAAAACCAGCAAACTAAAACTTC
TGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCT
GACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATC
TGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGG
GTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAG
GTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCA
TTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAG
ATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTA
GATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTT
GGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTG
GGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTRGGCAAATGTCA
TTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1225):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9508):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  685
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1225, 69, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9509):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  849
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 124, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9510):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3363
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 962, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9511):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3280
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1225, 934, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9512):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  1164
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9513):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4327
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1225, 1283, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9514):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1633
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 385, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9515):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1638
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 387, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9516):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  3068
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 864, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9517):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2579
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 701, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9518):
AAACACACTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  494
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 6, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:9519):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  2067
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 530, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9520):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4820
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1448, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9521):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3922
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1148, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9522):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1372
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1225, 298, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1225, 298, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9523):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5349
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9524):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7389
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9525):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7438
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9526):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5809
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9527):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  4130
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1218, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9528):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3677
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1067, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1067, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1067, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9529):
CTCTTTCATTGCTCTGCTAGGCATAAAACACACTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:            hCV11894038
SNP Position Transcript:  469
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1225, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9530):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6618
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9531):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  590
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 38, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9532):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  4097
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1207, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1207, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9533):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3909
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1144, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9534):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6373
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9535):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6301
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Context             (SEQ ID NO:9536):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3821
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1115, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1225, 1115, (R,AGA)   (G,GGA)      1115, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9537):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  6105
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1225, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT22678 - 83000099460795
Public Transcript Accession: NM_000646
Celera Protein:              hCP45415 - 197000064921206
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3757791)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:529):
TGTATAAGAATTTGCACATCCCAAGTTGCTATGTGAATAGGAATGCGTTTCCAGGGGAAGGAGAAAGAGACATTACAGAGCAGACAGCTCTATGATGTTT
ACTATACTTGCTAAAATGTGAAATTCAGCTAAATTGGAATACAAAGTAGTGCCAAAACAGCATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAAT
CAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTAYGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGA
GCTACAGTTCCGATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTYTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTS
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAKCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGT
GGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTG
CCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCA
ATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGA
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
YGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCT
CCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGC
CCTTAAATATGCMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGA
GATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGC
AGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGT
TCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTA
ATGGATGTAYCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCC
GCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTAC
CCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGAT
TACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGG
ATCAGCCATTGTTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACAT
GAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATG
GGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGT
TGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAA
AATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAA
GATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAG
CATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAA
TGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTA
TATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTT
GGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTA
TGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGT
TTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCA
GAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTC
TATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTG
AATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGA
AGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAA
CAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATT
GAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCA
ACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGA
ATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAAT
CTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTG
TTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATAC
CTAATAAAATAATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGA
AATTAMAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTAC
TTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAAT
CCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCT
TGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGT
ACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAA
AATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAG
AAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACAT
TATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGAT
AAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGC
TGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATG
TCTTGAACTACTGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1226):
MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGA
DNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVV
YNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLL
TQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLG
PVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITA
TYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIA
HALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGF
IQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKI
VKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKE
DGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTT
LLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRY
VEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQF
RERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHG
KAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTL
DPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCET
QAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9538):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  418
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1226, 52, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9539):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  582
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 107, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9540):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3096
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 945, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9541):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3013
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1226, 917, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9542):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  897
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 212, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9543):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4060
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1226, 1266, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9544):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1366
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 368, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9545):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1371
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 370, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9546):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2801
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 847, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9547):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 684, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9548):
CATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAATCAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTA
Y
GATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTAC
Celera SNP ID:            hCV16195671
SNP Position Transcript:  261
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,17)   caucasian(C,26|T,4)   total(C,47|T,21)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1226, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9549):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1800
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 513, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9550):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4553
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1431, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9551):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3655
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1131, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9552):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1105
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1226, 281, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1226, 281, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9553):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5082
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9554):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7122
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9555):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7171
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9556):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5542
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9557):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  3863
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1201, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9558):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3410
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1050, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1050, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1050, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9559):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6351
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9560):
TAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  323
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 21, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9561):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  3830
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1190, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1190, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9562):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3642
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1127, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9563):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6106
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9564):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6034
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Context             (SEQ ID NO:9565):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3554
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1098, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1226, 1098, (R,AGA)   (G,GGA)      1098, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9566):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  5838
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1226, None   



Gene Number:                 206
Celera Gene:                 hCG31497 - 83000099460680
Celera Transcript:           hCT23064 - 83000099460869
Public Transcript Accession: NM_000646
Celera Protein:              hCP45416 - 197000064921208
Public Protein Accession:    NP_000637
Gene Symbol:                 AGL
Protein Name:                amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III);GDE
Celera Genomic Axis:         GA_x5YUV32VY6P(3694993..3768927)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:530):
CCCGGAAGTGGGCCAGAGGTACGGTCCGCTCCCACCTGGGGCGAGTGCGCGCACGGCCAGGTTGGGTACCGGGTGCGCCCAGGAACCCGCGCGAGGCGAA
GTCGCTGAGACTCTGCCTGCTTCTCACCCAGCTGCCTCGGCGCTGCCCCGGTCGCTCGCCGCCCCTCCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGG
GCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCCSCGACCGTAGCACCAGAGTCGCGGGTCCTGCAGT
GCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTRGAAGCCAAA
ATGGGACACAGTAAAYAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCC
GATTAGGCCCARCTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTG
GGAAAAYCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAG
AAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTWGGACTGTGTTACTCTTCAGACATTTTTAG
CTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGG
ACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTA
GTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCRGGAACATCCAGAAT
GTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAA
AGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTYTGGGAA
TTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTA
CGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAAT
TGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAKCATCRACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTT
TTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCAT
TTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCC
TCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAG
GACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTSAACACCTCTTC
ACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTT
TGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCT
GTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGC
ATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCA
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
KCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAA
GACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTG
CATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCA
GATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAG
AAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTYGAAATCATCT
GACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACT
TTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATG
CMGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATSTGGAGATTGGATGAT
TGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGT
TACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTT
CAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTAYC
TTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGA
AGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTRGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATG
GTCTCATTCCTAATCTACTGGGTGAAGGAAWTTATGCCAGATASAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAAT
GGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTG
TTTGAAGTCATACAGGAARCAATGCAAAAACACATGCAGGGCATACAGTTCYGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAG
GTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGA
CAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCYGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTA
TCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACA
ACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGG
AGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCT
TTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACA
ATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAASGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAG
ATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTT
CCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGT
TTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCT
CATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATAT
CATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAKAAAAATCATGTCATCTTCTATTTGTACAG
AAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTG
GTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCT
ACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTT
ATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAA
GATAGCTTACATTTTCAAAATGGAAATTGTYGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAG
TCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAA
AATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCAC
AAAAGGAAAAAGGTTTTTAACATTTAYATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGA
AAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATA
ATGGTATTTTAAAATAATGCTAYTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAMAGAAG
AAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTAT
CTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTT
AAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAAYACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATA
TACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTT
GATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTT
CACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTG
GTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTA
TGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTA
TTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTT
AATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTAC
TGTGTCTAGTRGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTYTAAAGGTCTGTA

Protein Sequence    (SEQ ID NO:1227):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL


SNP Information

Context             (SEQ ID NO:9567):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:            hCV15852417
SNP Position Transcript:  607
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,31)   total(C,1|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1227, 69, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9568):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:            hCV27535895
SNP Position Transcript:  771
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 124, (X,TAG)   (L,TTG)      



Context             (SEQ ID NO:9569):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:            hCV25612128
SNP Position Transcript:  3285
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 962, (S,TCT)   (C,TGT)   



Context             (SEQ ID NO:9570):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:            hCV25612137
SNP Position Transcript:  3202
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,40)   total(A,75|C,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1227, 934, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:9571):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:            hCV25612146
SNP Position Transcript:  1086
SNP Source:               Applera
Population(Allele,Count): african american(A,8)   caucasian(A,35|G,1)   total(A,43|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:9572):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:            hCV25612155
SNP Position Transcript:  4249
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(C,1|T,35)   total(C,1|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1227, 1283, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:9573):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:            hCV25612139
SNP Position Transcript:  1555
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(G,37|T,1)   total(G,45|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 385, (K,AAG)   (N,AAT)   



Context             (SEQ ID NO:9574):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:            hCV25764859
SNP Position Transcript:  1560
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,1|G,37)   total(A,1|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 387, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:9575):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:            hCV27540926
SNP Position Transcript:  2990
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 864, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9576):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:            hCV27471187
SNP Position Transcript:  2501
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 701, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:9577):
CGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:            hCV27860957
SNP Position Transcript:  416
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 6, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:9578):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:            hCV27860958
SNP Position Transcript:  1989
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 530, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9579):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:            hCV27860959
SNP Position Transcript:  4742
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1448, (R,CGA)   (G,GGA)      



Context             (SEQ ID NO:9580):
CCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGGGCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCC
S
CGACCGTAGCACCAGAGTCGCGGGTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTC
Celera SNP ID:            hCV27853782
SNP Position Transcript:  267
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,31|G,3)   total(C,61|G,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1227, None



Context             (SEQ ID NO:9581):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:            hCV27859145
SNP Position Transcript:  3844
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1148, (Y,TAC)   (X,TAG)      



Context             (SEQ ID NO:9582):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:            hCV190827
SNP Position Transcript:  1294
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,12|T,26)   total(C,14|T,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1227, 298, (L,CTC)   (L,CTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;JBIC-allele(C,434|T,1037)   total(C,434|T,1037)   no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1227, 298, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9583):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:            hCV8395384
SNP Position Transcript:  5271
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   JBIC-allele(G,578|T,895)   total(G,578|T,895) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9584):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:            hCV8395385
SNP Position Transcript:  7311
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9585):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:            hCV8395386
SNP Position Transcript:  7360
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9586):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:            hCV3193450
SNP Position Transcript:  5731
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,9)      total(C,9|T,3) ;JBIC-allele(C,319|T,784)   total(C,319|T,784)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9587):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:            hCV27540606
SNP Position Transcript:  4052
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1218, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9588):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:            hCV25612120
SNP Position Transcript:  3599
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,33|T,3)   total(C,40|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1067, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,1)   caucasian(C,35|T,3)   total(C,42|T,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1067, (P,CCT)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,27|C,880)   total(C,880|T,27) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1067, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:9589):
GTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:            hCV11894038
SNP Position Transcript:  391
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,15|G,13)   total(A,40|G,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1227, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,5)      total(G,5|A,3) ;no_pop(G,-|A,-)   JBIC-allele(A,678|G,813)   total(G,813|A,678)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9590):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:            hCV3193446
SNP Position Transcript:  6540
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,9)      total(C,1|T,9) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9591):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:            hCV25952842
SNP Position Transcript:  512
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,32)   total(A,68|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 38, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:9592):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:            hCV3193463
SNP Position Transcript:  4019
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,7)   caucasian(G,36)   total(A,1|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1207, (T,ACA)   (A,GCA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,13)   total(G,13|A,1)Caucasian(A,0|G,309)   Chinese(A,1|G,60)   Japanese(A,0|G,20)   African(A,5|G,95)   total(G,484|A,6)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1207, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9593):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:            hCV25612106
SNP Position Transcript:  3831
SNP Source:               Applera
Population(Allele,Count): african american(T,8)   caucasian(A,1|T,33)   total(A,1|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1144, (N,AAT)   (I,ATT)   



Context             (SEQ ID NO:9594):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:            hCV3193447
SNP Position Transcript:  6295
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,4|A,12)      total(A,12|C,4) ;no_pop(A,-|C,-)   ;no_pop(A,-|C,-)   JBIC-allele(A,596|C,903)   total(A,596|C,903)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9595):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:            hCV3193448
SNP Position Transcript:  6223
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,15)   total(C,15|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Context             (SEQ ID NO:9596):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:            hCV16182201
SNP Position Transcript:  3743
SNP Source:               Applera
Population(Allele,Count): african american(G,8)   caucasian(A,5|G,33)   total(A,5|G,41)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1115, (R,AGA)   (G,GGA)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;JBIG-allele(A,315|G,1172)   total(G,1172|A,315)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1227, 1115, (R,AGA)   (G,GGA)      1115, (G,GGA)   (R,AGA)      



Context             (SEQ ID NO:9597):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:            hCV3193449
SNP Position Transcript:  6027
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,12)   total(C,12|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1227, None   



Gene Number:                 207
Celera Gene:                 hCG31746 - 145000147123870
Celera Transcript:           hCT2303829 - 145000147123871
Public Transcript Accession: NM_022134
Celera Protein:              hCP1809055 - 197000064951696
Public Protein Accession:    NP_071417
Gene Symbol:                 GP3ST
Protein Name:                glycoprotein beta-Gal 3'-sulfotransferase
Celera Genomic Axis:         GA_x5YUV32VWPT(47301103..47330235)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:531):
TTCACCTGCCCCACAGCCGCACCCTGCCTGTGCCTGCACCCTGGGGAGCCCAGAGCCGGCAGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTC
GACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCCWTGCTGGGCGGCTTGCAGARATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGAC
TCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCTGGACACACCCCTGTTTGGGGGCCAGGCTGAGGGGCCGCCGGTCACCAACATCATGTTC
CTGAAGACGCACAAGACGGCCAGCAGCACGGTGCTCAACATCCTCTACCGCTTCGCCGAGACCCACAACCTGTCCGTGGCGCTGCCCGCCGGCTCACGCG
TCCACCTGGGCTACCCCTGGCTCTTCCTGGCGCGCTACGTGGAAGGCGTGGGGTCGCAGCAGCGCTTCAACATCATGTGCAACCACCTGAGGTTCAACCT
GCCTCAGGTKCAGAAAGTCATGCCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACC
TACGCCCCCGCCTTCCGGGGCGYCCCGAGCCTGGACGCGTTCCTGGCCTCGCCGCGGACGTTCTACAACGACAGCCGCCACCTCAGGAACGTCTACGCCA
AGAACAACATGTGGTTCGACTTCGGCTTCGACCCCAACGCGCAGTGCGAGGAGGGCTACGTGCGCGCGCGCATCGCCGAGGTGGARCGGCGCTTCCGGCT
GGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACRACRTGGTGGCCTTCAGGCTCAACTCCCGC
AGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTGGCGCCTGTACGAGCATTTCAACCGCACCC
TCTGGGCGCAGCTGCGCGCCGAGCTGGGGCCGCGGCGGCTGCGCGGGGAGGTGGAGCGGCTGCGCGCCCGGAGGCGCGAACTCGCGAGCCTGTGCCTGCA
GGACGGCGGCGCGCTCAAGAACCACACGCAGATCAGAGACCCGCGCCTGCGCCCCTACCAGTCCGGCAAGGCCGACATCCTGGGTTACAACCTCCGGCCG
GGCCTGGACAACCAGACGCTGGGCGTGTGCCAGAGGCTTGTGATGCCTGAGCTCCAGTACATGGCCCGCCTGTACGCCCTGCAGTTCCCGGAGAAGCCCC
TCAAGAACATCCCGTTCCTGGGGGCGTAGAGGGGCCGGGCCGGGGACGAGGCCTCCTGCGGACACCAGCTCCTCTCTCCGCCGTCACCGGGGAGGCCGRG
GATCCTTGCAGGGCTTCTGGGGCGTTGGGAAACCCAGGCCCGCCGGCGTGGACTCTGCCCTCAGCTTCACAGTCACCGAAGAAATGAAGTTACAGGAGGG
GCACACCGTCCTTTTGTCTCTGCCTTTGAGGTTGGCGGGAACTGAAACTGGTACGGTCTTTTTGAATAGAAATTTGGGGTCTTT

Protein Sequence    (SEQ ID NO:1228):
MMSMLGGLQRYFRVILLLLLALTLLLLAGFLHSDLELDTPLFGGQAEGPPVTNIMFLKTHKTASSTVLNILYRFAETHNLSVALPAGSRVHLGYPWLFLA
RYVEGVGSQQRFNIMCNHLRFNLPQVQKVMPNDTFYFSILRNPVFQLESSFIYYKTYAPAFRGAPSLDAFLASPRTFYNDSRHLRNVYAKNNMWFDFGFD
PNAQCEEGYVRARIAEVERRFRLVLIAEHLDESLVLLRRRLRWALDDVVAFRLNSRSARSVARLSPETRERARSWCALDWRLYEHFNRTLWAQLRAELGP
RRLRGEVERLRARRRELASLCLQDGGALKNHTQIRDPRLRPYQSGKADILGYNLRPGLDNQTLGVCQRLVMPELQYMARLYALQFPEKPLKNIPFLGA


SNP Information

Context             (SEQ ID NO:9598):
CCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACCTACGCCCCCGCCTTCCGGGGCG
Y
CCCGAGCCTGGACGCGTTCCTGGCCTCGCCGCGGACGTTCTACAACGACAGCCGCCACCTCAGGAACGTCTACGCCAAGAACAACATGTGGTTCGACTTC
Celera SNP ID:            hCV25612831
SNP Position Transcript:  623
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,22)   total(C,46|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1228, 164, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:9599):
AGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTCGACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCCATGCTGGGCGGCTTGCAGA
R
ATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGACTCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCTGGACACACCCCTGTTTGGG
Celera SNP ID:            hCV25760517
SNP Position Transcript:  161
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1228, None



Context             (SEQ ID NO:9600):
CGCCGAGGTGGAGCGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACGAC
R
TGGTGGCCTTCAGGCTCAACTCCCGCAGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTGGCG
Celera SNP ID:            hCV15828663
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1228, 248, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9601):
GCTACCCCTGGCTCTTCCTGGCGCGCTACGTGGAAGGCGTGGGGTCGCAGCAGCGCTTCAACATCATGTGCAACCACCTGAGGTTCAACCTGCCTCAGGT
K
CAGAAAGTCATGCCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACCTACGCCCCCG
Celera SNP ID:            hCV25760725
SNP Position Transcript:  510
SNP Source:               Applera
Population(Allele,Count): african american(G,19|T,1)   caucasian(G,28)   total(G,47|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1228, 126, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:9602):
TGGGGAGCCCAGAGCCGGCAGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTCGACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCC
W
TGCTGGGCGGCTTGCAGAGATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGACTCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCT
Celera SNP ID:            hCV25612829
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,10)   caucasian(A,6|T,10)   total(A,10|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1228, 4, (M,ATG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|T,17)   caucasian(A,29|T,7)   total(A,50|T,24)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1228, 4, (M,ATG)   (L,TTG)   



Context             (SEQ ID NO:9603):
CCTCAAGAACATCCCGTTCCTGGGGGCGTAGAGGGGCCGGGCCGGGGACGAGGCCTCCTGCGGACACCAGCTCCTCTCTCCGCCGTCACCGGGGAGGCCG
R
GGATCCTTGCAGGGCTTCTGGGGCGTTGGGAAACCCAGGCCCGCCGGCGTGGACTCTGCCCTCAGCTTCACAGTCACCGAAGAAATGAAGTTACAGGAGG
Celera SNP ID:            hCV2769389
SNP Position Transcript:  1399
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,19)   caucasian(A,5|G,19)   total(A,18|G,38)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1228, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,6)      total(G,6|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1228, None   



Context             (SEQ ID NO:9604):
CATCGCCGAGGTGGAGCGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGAC
R
ACGTGGTGGCCTTCAGGCTCAACTCCCGCAGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTG
Celera SNP ID:            hCV15828659
SNP Position Transcript:  871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1228, 247, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:9605):
GGAACGTCTACGCCAAGAACAACATGTGGTTCGACTTCGGCTTCGACCCCAACGCGCAGTGCGAGGAGGGCTACGTGCGCGCGCGCATCGCCGAGGTGGA
R
CGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACGACGTGGTGGCCTTCA
Celera SNP ID:            hCV27532371
SNP Position Transcript:  786
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1228, 218, (E,GAA)   (E,GAG)      



Gene Number:                 207
Celera Gene:                 hCG31746 - 145000147123870
Celera Transcript:           hCT22927 - 145000147123896
Public Transcript Accession: NM_022134
Celera Protein:              hCP45233 - 197000064951700
Public Protein Accession:    NP_071417
Gene Symbol:                 GP3ST
Protein Name:                glycoprotein beta-Gal 3'-sulfotransferase
Celera Genomic Axis:         GA_x5YUV32VWPT(47301103..47327867)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:532):
TTCACCTGCCCCACAGCCGCACCCTGCCTGTGCCTGCACCCTGGGGAGCCCAGAGCCGGCAGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTC
GACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCCWTGCTGGGCGGCTTGCAGARATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGAC
TCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCTGGACACACCCCTGTTTGGGGGCCAGGCTGAGGGGCCGCCGGTCACCAACATCATGTTC
CTGAAGACGCACAAGACGGCCAGCAGCACGGTGCTCAACATCCTCTACCGCTTCGCCGAGACCCACAACCTGTCCGTGGCGCTGCCCGCCGGCTCACGCG
TCCACCTGGGCTACCCCTGGCTCTTCCTGGCGCGCTACGTGGAAGGCGTGGGGTCGCAGCAGCGCTTCAACATCATGTGCAACCACCTGAGGTTCAACCT
GCCTCAGGTKCAGAAAGTCATGCCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACC
TACGCCCCCGCCTTCCGGGGCGYCCCGAGCCTGGACGCGTTCCTGGCCTCGCCGCGGACGTTCTACAACGACAGCCGCCACCTCAGGAACGTCTACGCCA
AGAACAACATGTGGTTCGACTTCGGCTTCGACCCCAACGCGCAGTGCGAGGAGGGCTACGTGCGCGCGCGCATCGCCGAGGTGGARCGGCGCTTCCGGCT
GGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACRACRTGGTGGCCTTCAGGCTCAACTCCCGC
AGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTGGCGCCTGTACGAGCATTTCAACCGCACCC
TCTGGGCGCAGCTGCGCGCCGAGCTGGGGCCGCGGCGGCTGCGCGGGGAGGTGGAGCGGCTGCGCGCCCGGAGGCGCGAACTCGCGAGCCTGTGCCTGCA
GGACGGCGGCGCGCTCAAGAACCACACGCAGATCAGAGACCCGCGCCTGCGCCCCTACCAGTCCGGCAAGGCCGACATCCTGGGTTACAACCTCCGGCCG
GGCCTGGACAACCAGACGCTGGGCGTGTGCCAGAGGCTTGTGATGCCTGAGCTCCAGTACATGGCCCGCCTGTACGCCCTGCAGTTCCCGGAGAAGCCCC
TCAAGAACATCCCGTTCCTGGGGGCGTAGAGGGGCCGGGCCGGGGACGAGGCCTCCTGCGGACACCAGCTCCTCTCTCCGCCGTCACCGGGGAGGCCGRG
GATCCTTGCAGGGCTTCTGGGGCGTTGGGAAACCCAGGCCCGCCG

Protein Sequence    (SEQ ID NO:1229):
MMSMLGGLQRYFRVILLLLLALTLLLLAGFLHSDLELDTPLFGGQAEGPPVTNIMFLKTHKTASSTVLNILYRFAETHNLSVALPAGSRVHLGYPWLFLA
RYVEGVGSQQRFNIMCNHLRFNLPQVQKVMPNDTFYFSILRNPVFQLESSFIYYKTYAPAFRGAPSLDAFLASPRTFYNDSRHLRNVYAKNNMWFDFGFD
PNAQCEEGYVRARIAEVERRFRLVLIAEHLDESLVLLRRRLRWALDDVVAFRLNSRSARSVARLSPETRERARSWCALDWRLYEHFNRTLWAQLRAELGP
RRLRGEVERLRARRRELASLCLQDGGALKNHTQIRDPRLRPYQSGKADILGYNLRPGLDNQTLGVCQRLVMPELQYMARLYALQFPEKPLKNIPFLGA


SNP Information

Context             (SEQ ID NO:9606):
CCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACCTACGCCCCCGCCTTCCGGGGCG
Y
CCCGAGCCTGGACGCGTTCCTGGCCTCGCCGCGGACGTTCTACAACGACAGCCGCCACCTCAGGAACGTCTACGCCAAGAACAACATGTGGTTCGACTTC
Celera SNP ID:            hCV25612831
SNP Position Transcript:  623
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,2)   caucasian(C,22)   total(C,46|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1229, 164, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:9607):
AGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTCGACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCCATGCTGGGCGGCTTGCAGA
R
ATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGACTCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCTGGACACACCCCTGTTTGGG
Celera SNP ID:            hCV25760517
SNP Position Transcript:  161
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1229, None



Context             (SEQ ID NO:9608):
CGCCGAGGTGGAGCGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACGAC
R
TGGTGGCCTTCAGGCTCAACTCCCGCAGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTGGCG
Celera SNP ID:            hCV15828663
SNP Position Transcript:  874
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1229, 248, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9609):
GCTACCCCTGGCTCTTCCTGGCGCGCTACGTGGAAGGCGTGGGGTCGCAGCAGCGCTTCAACATCATGTGCAACCACCTGAGGTTCAACCTGCCTCAGGT
K
CAGAAAGTCATGCCCAACGACACCTTCTACTTCTCCATCCTGAGGAACCCCGTGTTCCAGCTGGAGTCCTCCTTCATCTACTACAAAACCTACGCCCCCG
Celera SNP ID:            hCV25760725
SNP Position Transcript:  510
SNP Source:               Applera
Population(Allele,Count): african american(G,19|T,1)   caucasian(G,28)   total(G,47|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1229, 126, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:9610):
TGGGGAGCCCAGAGCCGGCAGGGGCCGAGGCGGTGGGACCTCGGGGGAGCTCAAGCCTCGACTGTCCCCTCGCTGGAGGCCAGAGGCCAAGATGATGTCC
W
TGCTGGGCGGCTTGCAGAGATACTTCCGGGTCATCCTCCTCCTCCTCCTGGCCCTGACTCTGCTCCTGCTGGCCGGATTCCTGCACTCGGACTTAGAGCT
Celera SNP ID:            hCV25612829
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,10)   caucasian(A,6|T,10)   total(A,10|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1229, 4, (M,ATG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|T,17)   caucasian(A,29|T,7)   total(A,50|T,24)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1229, 4, (M,ATG)   (L,TTG)   



Context             (SEQ ID NO:9611):
CCTCAAGAACATCCCGTTCCTGGGGGCGTAGAGGGGCCGGGCCGGGGACGAGGCCTCCTGCGGACACCAGCTCCTCTCTCCGCCGTCACCGGGGAGGCCG
R
GGATCCTTGCAGGGCTTCTGGGGCGTTGGGAAACCCAGGCCCGCCG
Celera SNP ID:            hCV2769389
SNP Position Transcript:  1399
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,19)   caucasian(A,5|G,19)   total(A,18|G,38)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1229, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,6)      total(G,6|A,6) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1229, None   



Context             (SEQ ID NO:9612):
CATCGCCGAGGTGGAGCGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGAC
R
ACGTGGTGGCCTTCAGGCTCAACTCCCGCAGCGCGCGCTCCGTGGCCCGCCTGTCGCCCGAGACCCGGGAGCGCGCGCGGAGCTGGTGCGCGCTGGACTG
Celera SNP ID:            hCV15828659
SNP Position Transcript:  871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1229, 247, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:9613):
GGAACGTCTACGCCAAGAACAACATGTGGTTCGACTTCGGCTTCGACCCCAACGCGCAGTGCGAGGAGGGCTACGTGCGCGCGCGCATCGCCGAGGTGGA
R
CGGCGCTTCCGGCTGGTGCTCATCGCCGAGCACCTGGACGAGTCCCTGGTGCTGCTGCGGCGCCGGCTGCGCTGGGCGCTGGACGACGTGGTGGCCTTCA
Celera SNP ID:            hCV27532371
SNP Position Transcript:  786
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1229, 218, (E,GAA)   (E,GAG)      



Gene Number:                 208
Celera Gene:                 hCG31836 - 83000099460631
Celera Transcript:           hCT2328486 - 83000099460660
Public Transcript Accession: NM_019083
Celera Protein:              hCP1788559 - 197000064921200
Public Protein Accession:    NP_061956
Gene Symbol:                 FLJ10287
Protein Name:                hypothetical protein FLJ10287;FLJ11219
Celera Genomic Axis:         GA_x5YUV32VY6P(3476150..3483859)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:533):
CGGAAGCGAGCCCTAGAATTATGGCGACCTCCGCGACGTCGCCGCACGCGCCTGGTTTTCCAGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAA
ACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCRYGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCT
TTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCAAGAGAGAAACCAAAACCTGATTTCTATATTCAAGATA
TTAATGCAGGCTTAAGAGATGAAACAGAAATACCTGAACAATTAGTTCCAATTTCTTCTCTATCTGAAGAGCAGTTGGAAAAGTTAATTAAGAAATTGAG
AAAAGCAAGTGAAGGCTTGAATTCTACACTTAAAGATCATATTATGTCCCATCCAGCATTACACGATGCACTTAATGACCCTAAAAATGGCGATTCTGCA
ACCAAGCACCTGAAACAGCAGGTATGTTTAGGCTATAGTAACTACTAAACATGGCCTTTGTTCATTTGTTAAAACTGTTTTAAATGTAATTATTAATAAG
ATTTTATTTTGTTTACCTTTGAGGGTACCAAATATTTCCATTTCAAAAATATATAGAAACATATACAAAAAATTGAGGGCATGGATGTGATTCTGAGTAC
CGTATATTAAATATTTAAAGGCAAGAGAGAAAAATTTTAAGTCAAATACAAATTATCAATGTAAGCATACTGCCTTATGCAGAAATTACCTTGCTGTTTT
CCCATTTGAACCAAATGTGTTTACTCTAGTTTATAAAATAATCTTGTGAAGTTTGCAGGCTTCT

Protein Sequence    (SEQ ID NO:1230):
MATSATSPHAPGFPAEGRCGYYVEKKKRFCRMVVAAGKRFCGEHAGAMEEEDARKRILCPLDPKHTVYEDQLAKHLKKCNSREKPKPDFYIQDINAGLRD
ETEIPEQLVPISSLSEEQLEKLIKKLRKASEGLNSTLKDHIMSHPALHDALNDPKNGDSATKHLKQQVCLGYSNY


SNP Information

Context             (SEQ ID NO:9614):
GCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCA
Y
GGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCA
Celera SNP ID:            hCV734795
SNP Position Transcript:  163
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,6|T,18)   total(C,8|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1230, 48, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1230, 48, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9615):
AGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCC
R
TGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTC
Celera SNP ID:            hCV734796
SNP Position Transcript:  162
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,1)   caucasian(A,26|G,4)   total(A,33|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1230, 48, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1230, 48, (V,GTG)   (M,ATG)      48, (M,ATG)   (V,GTG)      



Gene Number:                 208
Celera Gene:                 hCG31836 - 83000099460631
Celera Transcript:           hCT2328485 - 83000099460647
Public Transcript Accession: NM_019083
Celera Protein:              hCP1788558 - 197000064921199
Public Protein Accession:    NP_061956
Gene Symbol:                 FLJ10287
Protein Name:                hypothetical protein FLJ10287;FLJ11219
Celera Genomic Axis:         GA_x5YUV32VY6P(3466510..3483859)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:534):
CGGAAGCGAGCCCTAGAATTATGGCGACCTCCGCGACGTCGCCGCACGCGCCTGGTTTTCCAGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAA
ACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCRYGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCT
TTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCAAGAGAGAAACCAAAACCTGATTTCTATATTCAAGATA
TTAATGCAGGCTTAAGAGATGAAACAGAAATACCTGAACAATTAGCTTGAATTCTACACTTAAAGATCATATTATGTCCCATCCAGCATTACACGATGCA
CTTAATGACCCTAAAAATGGCGATTCTGCAACCAAGCACCTGAAACAGCAGGCTTCTATTTTAGGTAACATTGAAAATTTAAAGTTACTTGGTCCAAGAA
GATGCTTTGTTGAGTTTGGAGCGGGAAAGGGAAAATTATCTCATTGGGTTGATATTGCCTTAAAAGATGCTGAAAAAGTTCACTTCATCCTAGTGGAAAA
GGTGACCACAAGATTCAAGGTGGATGGAAAACACAGAAAGAAAAATTCAGTGTTTGAAAGACTTCAAATTGATATTCAACACTTGTGTTTGAACAAGATT
CCTGTGYTAAGAGAAGAAAAACTACCTGTGGTAGGAATTGGAAAGCATCTGTGTGGTATGGCAACAGGCTTCTTAGTGTTGAAGAAAAGAAGAAAATAGG
GCATCTTTGTAAATTGCTGATTGACCAAGGTCGAATCCAGTATTTGCAGCAGAAGGGATTCAGTCCTGCTTTGCAGTACTATACAGACCCTCTGGTGTCT
TTGGAAAATGTTTTGTTAACTGCTTTACCAAATCATTCTTCATCACCAGAAACAACTGCTTAATGGAAAAGAAATTTGAGCATCATCTGTCTTCCACCAA
AAAAAWTTTTTTAATTATATTTTTATATCAAAAAAATATATACTTTAAATAGCAAATAATATGAACTTTAAAAAATGCTGTGGCCTCATTAAACTTTGGT
AATAGCTTTTCTTTTTACTTCAGAAATCCAAACATTAGAGAATTCACCAAAGTAATCCTCTTTAGAAGGGCATCTTGAATTATATTATCCATCCGTATTT
ATGGAGATTGGTAAAGTAGTTGAACCGTTGACTTGGTGATCTGAAACATACATAACATGTCAACACATAATTAGCGTATTTCTGTTTGTATTAATTTTGG
AAATTTATCTTCCTTTGATTTTATTTAATATTTTTTATTTCTTAAGTTCAAGAGGTAGTGATTGATTGTAACAAGGGCCAATCTGAGAATTTGACTTATA
TGTGGACATTTTTCCCTACAGATCTGGAAAGCACAATTGTGATTTTCTCAAATGCAGACAATTCAGAGATATTCACAATTAATAAACACAATTAATTAAT
GAAGTCACCTTCAAATTTCCAGAGCCATACATGTATATATTGTCAGAATCTGTCCATGACAAACACAAAACTGAAGAGCTGTTTTCAAAGAAAAAAGATT
ATTTCACTTAATTATTTTGTTGGATAATTGTCTAGTTAGAACTTCCAAAAAGATACTTACAAACATAATTCACAAATTTGAAATAATTTCTGAAGTTGAT
TAGCTATCTCATATCTTTTATCAGGTCATTTTTTATATATGTAGGCACAAACAATAAGTATGTTCTCTTCTGTTTGGGAAAATAATTTGGAATAAAATAG
AAATTAGATAATGAAACCAAAAACCTTCTCAAATTTAGGCCTTATTTAACTCATGACTGGTTTCTATGCACAAGAAAATACTAAACCAAATATATGGTAG
GACTGTTATTCTCTTCTGCATCTTATCCCTATTTTGTTTCTGCCTTTATTTGTAAAAATTGTCTTAATTGATGGTACATTTGCCAAGACAAAGGTTCAGA
ATTACTAATTTTAGATATTATGATATTCTGAAATAACTATTTTTATCCTGTAGTTCTATGATTATATGATTTGTAAATAAGAAGCCTAACCAATTTAAAA
TTCCTGACTTTAGTCTCATATATCTTGTCAGACTGTCTCGGTTCAAATTCCAAACCTACCATCTTCAGTTGTGCGACCTTGGGCATGCTACCTAATCTCT
TTGTGCCTCAATTTCCTCCTTTTAAAATGGGGATGATGATGATAACAATAATACCTACCTCACAAGGTTGTTGTGAGCATCAAATGAGATAACACAAGTA
AAATGCATAGAACAGTTCCAAGCACAGAGTAATTCAATAAATATTAACTAGTAATAGTAGTGGTAGTAACTCGTGAATCTTTTTAATAACATAATAGGCT
TTGATTTTATTATCTCTTTAAGTTGTTAACTTTTTTCCCTTGTTATAAGTTTTATGTCAAGTAAGGTAGTTTGTTTAAGTTAGTTACCCATGTCCCCAAT
CAAGGGAACCTAAATGAAGATATATCATTAAATAATTAACCTTTTTTTATTGTGTCAAGCAATACTAATTTGTGTCATAAAATTTGTTTTGCATCATTCA
ACAATTTATGCCCAGAAATAAACAATATTCTACAACAGGC

Protein Sequence    (SEQ ID NO:1231):
MSHPALHDALNDPKNGDSATKHLKQQASILGNIENLKLLGPRRCFVEFGAGKGKLSHWVDIALKDAEKVHFILVEKVTTRFKVDGKHRKKNSVFERLQID
IQHLCLNKIPVLREEKLPVVGIGKHLCGMATGFLVLKKRRK


SNP Information

Context             (SEQ ID NO:9616):
GCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCA
Y
GGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCA
Celera SNP ID:            hCV734795
SNP Position Transcript:  163
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,6|T,18)   total(C,8|T,24)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1231, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1231, None   



Context             (SEQ ID NO:9617):
AAATGTTTTGTTAACTGCTTTACCAAATCATTCTTCATCACCAGAAACAACTGCTTAATGGAAAAGAAATTTGAGCATCATCTGTCTTCCACCAAAAAAA
W
TTTTTTAATTATATTTTTATATCAAAAAAATATATACTTTAAATAGCAAATAATATGAACTTTAAAAAATGCTGTGGCCTCATTAAACTTTGGTAATAGC
Celera SNP ID:            hCV25613347
SNP Position Transcript:  1006
SNP Source:               Applera
Population(Allele,Count): african american(A,28|T,4)   caucasian(A,34|T,6)   total(A,62|T,10)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1231, None

SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,34|T,6)   total(A,68|T,10)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1231, None



Context             (SEQ ID NO:9618):
AGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCC
R
TGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTC
Celera SNP ID:            hCV734796
SNP Position Transcript:  162
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,1)   caucasian(A,26|G,4)   total(A,33|G,5)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1231, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1231, None   



Context             (SEQ ID NO:9619):
CACAAGATTCAAGGTGGATGGAAAACACAGAAAGAAAAATTCAGTGTTTGAAAGACTTCAAATTGATATTCAACACTTGTGTTTGAACAAGATTCCTGTG
Y
TAAGAGAAGAAAAACTACCTGTGGTAGGAATTGGAAAGCATCTGTGTGGTATGGCAACAGGCTTCTTAGTGTTGAAGAAAAGAAGAAAATAGGGCATCTT
Celera SNP ID:            hCV25613357
SNP Position Transcript:  707
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,37|T,3)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1231, 112, (L,CTA)   (L,TTA)   



Gene Number:                 208
Celera Gene:                 hCG31836 - 83000099460631
Celera Transcript:           hCT23017 - 83000099460632
Public Transcript Accession: NM_019083
Celera Protein:              hCP45380 - 197000064921198
Public Protein Accession:    NP_061956
Gene Symbol:                 FLJ10287
Protein Name:                hypothetical protein FLJ10287;FLJ11219
Celera Genomic Axis:         GA_x5YUV32VY6P(3466510..3483859)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:535):
CGGAAGCGAGCCCTAGAATTATGGCGACCTCCGCGACGTCGCCGCACGCGCCTGGTTTTCCAGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAA
ACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCRYGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCT
TTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCAAGAGAGAAACCAAAACCTGATTTCTATATTCAAGATA
TTAATGCAGGCTTAAGAGATGAAACAGAAATACCTGAACAATTAGTTCCAATTTCTTCTCTATCTGAAGAGCAGTTGGAAAAGTTAATTAAGAAATTGAG
AAAAGCAAGTGAAGGCTTGAATTCTACACTTAAAGATCATATTATGTCCCATCCAGCATTACACGATGCACTTAATGACCCTAAAAATGGCGATTCTGCA
ACCAAGCACCTGAAACAGCAGGCTTCTATTTTAGGTAACATTGAAAATTTAAAGTTACTTGGTCCAAGAAGATGCTTTGTTGAGTTTGGAGCGGGAAAGG
GAAAATTATCTCATTGGGTTGATATTGCCTTAAAAGATGCTGAAAAAGTTCACTTCATCCTAGTGGAAAAGGTGACCACAAGATTCAAGGTGGATGGAAA
ACACAGAAAGAAAAATTCAGTGTTTGAAAGACTTCAAATTGATATTCAACACTTGTGTTTGAACAAGATTCCTGTGYTAAGAGAAGAAAAACTACCTGTG
GTAGGAATTGGAAAGCATCTGTGTGGTATGGCAACAGATCTTGCATTACGATGTTTGGTTGAAACCTATGCTGCCAGTTTTGAGGAAAGGAATGAAGAAC
CTTTAGCCAAACGCATAAAGAATGATAAAACAGAAAAAGAAATTTACACTTTGGCCAAGGAAGGAAATGAAAAAAATGTCCCAGAGAAGTGGAACCCTGT
GGCTGGCATTGTTATTGCACTCTGTTGTCACCACAGGTGTGATTGGAGACATTATGTGGGCAAAGAATATTTCAGGGCTCTAGGCCTTGGAGCAGTGGAA
TTCCATTATTTCCAGCGAATGAGTAGTTGGGCAACTTGTGGGATGCGGAAAACATCTTTGGAAACCTCAAATAGTACCACAAAGAGGCAAGATAATCAGA
ATGATGATAGTGAAGAGCATGATGATGGAGGATACAGAATCACAGATGATGGCGCTGATTGTTTGCCTGGGCTTCTTAGTGTTGAAGAAAAGAAGAAAAT
AGGGCATCTTTGTAAATTGCTGATTGACCAAGGTCGAATCCAGTATTTGCAGCAGAAGGGATTCAGTCCTGCTTTGCAGTACTATACAGACCCTCTGGTG
TCTTTGGAAAATGTTTTGTTAACTGCTTTACCAAATCATTCTTCATCACCAGAAACAACTGCTTAATGGAAAAGAAATTTGAGCATCATCTGTCTTCCAC
CAAAAAAAWTTTTTTAATTATATTTTTATATCAAAAAAATATATACTTTAAATAGCAAATAATATGAACTTTAAAAAATGCTGTGGCCTCATTAAACTTT
GGTAATAGCTTTTCTTTTTACTTCAGAAATCCAAACATTAGAGAATTCACCAAAGTAATCCTCTTTAGAAGGGCATCTTGAATTATATTATCCATCCGTA
TTTATGGAGATTGGTAAAGTAGTTGAACCGTTGACTTGGTGATCTGAAACATACATAACATGTCAACACATAATTAGCGTATTTCTGTTTGTATTAATTT
TGGAAATTTATCTTCCTTTGATTTTATTTAATATTTTTTATTTCTTAAGTTCAAGAGGTAGTGATTGATTGTAACAAGGGCCAATCTGAGAATTTGACTT
ATATGTGGACATTTTTCCCTACAGATCTGGAAAGCACAATTGTGATTTTCTCAAATGCAGACAATTCAGAGATATTCACAATTAATAAACACAATTAATT
AATGAAGTCACCTTCAAATTTCCAGAGCCATACATGTATATATTGTCAGAATCTGTCCATGACAAACACAAAACTGAAGAGCTGTTTTCAAAGAAAAAAG
ATTATTTCACTTAATTATTTTGTTGGATAATTGTCTAGTTAGAACTTCCAAAAAGATACTTACAAACATAATTCACAAATTTGAAATAATTTCTGAAGTT
GATTAGCTATCTCATATCTTTTATCAGGTCATTTTTTATATATGTAGGCACAAACAATAAGTATGTTCTCTTCTGTTTGGGAAAATAATTTGGAATAAAA
TAGAAATTAGATAATGAAACCAAAAACCTTCTCAAATTTAGGCCTTATTTAACTCATGACTGGTTTCTATGCACAAGAAAATACTAAACCAAATATATGG
TAGGACTGTTATTCTCTTCTGCATCTTATCCCTATTTTGTTTCTGCCTTTATTTGTAAAAATTGTCTTAATTGATGGTACATTTGCCAAGACAAAGGTTC
AGAATTACTAATTTTAGATATTATGATATTCTGAAATAACTATTTTTATCCTGTAGTTCTATGATTATATGATTTGTAAATAAGAAGCCTAACCAATTTA
AAATTCCTGACTTTAGTCTCATATATCTTGTCAGACTGTCTCGGTTCAAATTCCAAACCTACCATCTTCAGTTGTGCGACCTTGGGCATGCTACCTAATC
TCTTTGTGCCTCAATTTCCTCCTTTTAAAATGGGGATGATGATGATAACAATAATACCTACCTCACAAGGTTGTTGTGAGCATCAAATGAGATAACACAA
GTAAAATGCATAGAACAGTTCCAAGCACAGAGTAATTCAATAAATATTAACTAGTAATAGTAGTGGTAGTAACTCGTGAATCTTTTTAATAACATAATAG
GCTTTGATTTTATTATCTCTTTAAGTTGTTAACTTTTTTCCCTTGTTATAAGTTTTATGTCAAGTAAGGTAGTTTGTTTAAGTTAGTTACCCATGTCCCC
AATCAAGGGAACCTAAATGAAGATATATCATTAAATAATTAACCTTTTTTTATTGTGTCAAGCAATACTAATTTGTGTCATAAAATTTGTTTTGCATCAT
TCAACAATTTATGCCCAGAAATAAACAATATTCTACAACAGGC

Protein Sequence    (SEQ ID NO:1232):
MATSATSPHAPGFPAEGRCGYYVEKKKRFCRMVVAAGKRFCGEHAGAMEEEDARKRILCPLDPKHTVYEDQLAKHLKKCNSREKPKPDFYIQDINAGLRD
ETEIPEQLVPISSLSEEQLEKLIKKLRKASEGLNSTLKDHIMSHPALHDALNDPKNGDSATKHLKQQASILGNIENLKLLGPRRCFVEFGAGKGKLSHWV
DIALKDAEKVHFILVEKVTTRFKVDGKHRKKNSVFERLQIDIQHLCLNKIPVLREEKLPVVGIGKHLCGMATDLALRCLVETYAASFEERNEEPLAKRIK
NDKTEKEIYTLAKEGNEKNVPEKWNPVAGIVIALCCHHRCDWRHYVGKEYFRALGLGAVEFHYFQRMSSWATCGMRKTSLETSNSTTKRQDNQNDDSEEH
DDGGYRITDDGADCLPGLLSVEEKKKIGHLCKLLIDQGRIQYLQQKGFSPALQYYTDPLVSLENVLLTALPNHSSSPETTA


SNP Information

Context             (SEQ ID NO:9620):
GCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCA
Y
GGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTCA
Celera SNP ID:            hCV734795
SNP Position Transcript:  163
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,6)   caucasian(C,6|T,18)   total(C,8|T,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1232, 48, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1232, 48, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9621):
AAATGTTTTGTTAACTGCTTTACCAAATCATTCTTCATCACCAGAAACAACTGCTTAATGGAAAAGAAATTTGAGCATCATCTGTCTTCCACCAAAAAAA
W
TTTTTTAATTATATTTTTATATCAAAAAAATATATACTTTAAATAGCAAATAATATGAACTTTAAAAAATGCTGTGGCCTCATTAAACTTTGGTAATAGC
Celera SNP ID:            hCV25613347
SNP Position Transcript:  1509
SNP Source:               Applera
Population(Allele,Count): african american(A,28|T,4)   caucasian(A,34|T,6)   total(A,62|T,10)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1232, None

SNP Source:               Applera
Population(Allele,Count): african american(A,34|T,4)   caucasian(A,34|T,6)   total(A,68|T,10)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1232, None



Context             (SEQ ID NO:9622):
AGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCC
R
TGGAGGAAGAAGATGCTCGGAAAAGAATCCTGTGTCCTTTAGATCCAAAACACACAGTATATGAAGATCAACTAGCAAAGCATTTGAAAAAATGTAACTC
Celera SNP ID:            hCV734796
SNP Position Transcript:  162
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,1)   caucasian(A,26|G,4)   total(A,33|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1232, 48, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1232, 48, (V,GTG)   (M,ATG)      48, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9623):
CACAAGATTCAAGGTGGATGGAAAACACAGAAAGAAAAATTCAGTGTTTGAAAGACTTCAAATTGATATTCAACACTTGTGTTTGAACAAGATTCCTGTG
Y
TAAGAGAAGAAAAACTACCTGTGGTAGGAATTGGAAAGCATCTGTGTGGTATGGCAACAGATCTTGCATTACGATGTTTGGTTGAAACCTATGCTGCCAG
Celera SNP ID:            hCV25613357
SNP Position Transcript:  777
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,37|T,3)   total(C,71|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1232, 253, (L,CTA)   (L,TTA)   



Gene Number:                 209
Celera Gene:                 hCG31839 - 83000099454100
Celera Transcript:           hCT23020 - 83000099454101
Public Transcript Accession: NM_144620
Celera Protein:              hCP45378 - 197000064921222
Public Protein Accession:    NP_653221
Gene Symbol:                 MGC14816
Protein Name:                hypothetical protein MGC14816
Celera Genomic Axis:         GA_x5YUV32VY6P(3438784..3468700)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:536):
TACATTTCACTTGGTTACAGCTGACTGGGGATTTTAATCATTTGGAGCCACACTGAAAAAAAAATTTCCCCCTGCAATCTACTCTTAACTGATAGTCGCT
AACTTTGGTTATGTGTGTCTATTCAGAATATTACATTAATTGATTTCTCAAACAAAGGTCCTTTCTGAAATGGTATCTATGATTCAGCTATTCAAAACCT
AATGAAGTTGGTGACTATGACAATGTGGAGAAATCATGACAGAAAATGTGGTTTGTACTGGGGCTGTCAATGCTGTWAAGGAAGTTTGGGAAAAAAGAAT
AAAGAAACTCAATGAAGACCTGAAGCGAGAGAAGGAATTTCAACACAAGCTAGTGCGGATCTGGGAAGAACGAGTAAGCTTAACCAAGCTAAGAGAAAAG
GTCACCAGGGAAGATGGAAGAGTCATTTTGAAGATAGAAAAAGAGGAATGGAAGACCCTCCCTTCTTCTCTGCTGAAACTGAATCAACTACAGGAATGGC
AACTTCATAGAACTGGTTTGCTGAAAATTCCTGAATTCATTGGAAGATTCCAGAACCTCATTGTGTTAGATTTATCTCGAAACACAATTTCAGAGWTACC
ACCAGGGATTGGACTGCTTACTAGACTTCAGGAACTGATTCTCAGCTACAACAAAATCAAGACTGTCCCCAAGGAACTAAGTAATTGTGCCAGCTTGGAG
AAACTAGAACTGGCTGTTAACAGAGATATATGTGATCTTCCACAAGAGCTCAGCAATCTGCTAAAACTTACTCACCTTGATCTGAGTATGAACGATTTTA
CTACAATCCCTCTTGCTGTGTTGAACATGCCTGCCCTTGAGTGGCTGGACATGGGAAGCAACAAACTTGAACAACTTCCTGATACTATAGAAAGAATGCA
AAATCTACATACGTTATGGCTGCAACGAAATGAAATAACATGCTTGCCTCAAACAATCAGCAATATGAAAAATCTGGGTACTCTTGTTCTCAGCAACAAT
AAACTGCAAGATATTCCAGTATGCATGGAAGAAATGGCAAATCTGAGGTTTGTCAACTTCAGAGACAACCCACTGAAATTGAAAGTATCACTTCCTCCCA
GTGAAGGCACAGATGAAGAAGAGGAACGGGAATTATTTGGCCTTCAGTTTATGCACACATACATACAAGAGTCACGGAGAAGAGCAGATCACCAAGTCAA
CGGTTCAACTACTTTACCAATCTCCATAAATACGGATGGATAATATAATTCAAGATGCCCTTCTAAAGAGGATTACTTTGGTGAATTCTCTAATGTTTGG
ATTTCTGAAGTAAAAAGAAAAGCTATTACCAAAGTTTAATGAGGCCACAGCATTTTTTAAAGTTCATATTATTTGCTATTTAAAGTATATATTTTTTTGA
TATAAAAATATAATTAAAAAAWTTTTTTTGGTGGAAGACAGATGATGCTCAAATTTCTTTTCCATTAAGCAGTTGTTTCTGGTGATGAAGAATGATTTGG
TAAAGCAGTTAACAAAACATTTTCCAAAGACACCAGAGGGTCTGTATAGTACTGCAAAGCAGGACTGAATCCCTTCTGCTGCAAATACTGGATTCGACCT
TGGTCAATCAGCAATTTACAAAGATGCCCTATTTTCTTCTTTTCTTCAACACTAAGAAGCCTAAATTGAATAAACACACAYAAAACATTGTTAAAATTTT
GCAAAAGTTTATAAAAAATTATTTTTGTCACTATTTATTGAGAGACTGTTAACTAACCCATAATGTACTAAGTACTTTGTCCCATGCTTCCAAGACACAT
TATATTTATGACCACAATAAAAGATGTGTATATTTTAGCTTATTCTAAAATTAGATTATAAAATACATTTTCATGAATTGTTGATAATAGTCATCTAAAG
TACAGTACAATATAATATTTCTCCTTTAGTATCATGCATTACAAAAGTAGTCTCTTACCCAGGCAAACAATCAGCGC

Protein Sequence    (SEQ ID NO:1233):
MTENVVCTGAVNAVKEVWEKRIKKLNEDLKREKEFQHKLVRIWEERVSLTKLREKVTREDGRVILKIEKEEWKTLPSSLLKLNQLQEWQLHRTGLLKIPE
FIGRFQNLIVLDLSRNTISEIPPGIGLLTRLQELILSYNKIKTVPKELSNCASLEKLELAVNRDICDLPQELSNLLKLTHLDLSMNDFTTIPLAVLNMPA
LEWLDMGSNKLEQLPDTIERMQNLHTLWLQRNEITCLPQTISNMKNLGTLVLSNNKLQDIPVCMEEMANLRFVNFRDNPLKLKVSLPPSEGTDEEEEREL
FGLQFMHTYIQESRRRADHQVNGSTTLPISINTDG


SNP Information

Context             (SEQ ID NO:9624):
GCAAATACTGGATTCGACCTTGGTCAATCAGCAATTTACAAAGATGCCCTATTTTCTTCTTTTCTTCAACACTAAGAAGCCTAAATTGAATAAACACACA
Y
AAAACATTGTTAAAATTTTGCAAAAGTTTATAAAAAATTATTTTTGTCACTATTTATTGAGAGACTGTTAACTAACCCATAATGTACTAAGTACTTTGTC
Celera SNP ID:            hCV8384372
SNP Position Transcript:  1681
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1233, None   



Context             (SEQ ID NO:9625):
GCTATTACCAAAGTTTAATGAGGCCACAGCATTTTTTAAAGTTCATATTATTTGCTATTTAAAGTATATATTTTTTTGATATAAAAATATAATTAAAAAA
W
TTTTTTTGGTGGAAGACAGATGATGCTCAAATTTCTTTTCCATTAAGCAGTTGTTTCTGGTGATGAAGAATGATTTGGTAAAGCAGTTAACAAAACATTT
Celera SNP ID:            hCV25613347
SNP Position Transcript:  1422
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,28)   caucasian(A,6|T,34)   total(A,10|T,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1233, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,34)   caucasian(A,6|T,34)   total(A,10|T,68)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1233, None



Context             (SEQ ID NO:9626):
ATGGCAACTTCATAGAACTGGTTTGCTGAAAATTCCTGAATTCATTGGAAGATTCCAGAACCTCATTGTGTTAGATTTATCTCGAAACACAATTTCAGAG
W
TACCACCAGGGATTGGACTGCTTACTAGACTTCAGGAACTGATTCTCAGCTACAACAAAATCAAGACTGTCCCCAAGGAACTAAGTAATTGTGCCAGCTT
Celera SNP ID:            hCV25613447
SNP Position Transcript:  596
SNP Source:               Applera
Population(Allele,Count): african american(A,28|T,2)   caucasian(A,40)   total(A,68|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1233, 121, (I,ATA)   (L,TTA)   



Context             (SEQ ID NO:9627):
CTATGATTCAGCTATTCAAAACCTAATGAAGTTGGTGACTATGACAATGTGGAGAAATCATGACAGAAAATGTGGTTTGTACTGGGGCTGTCAATGCTGT
W
AAGGAAGTTTGGGAAAAAAGAATAAAGAAACTCAATGAAGACCTGAAGCGAGAGAAGGAATTTCAACACAAGCTAGTGCGGATCTGGGAAGAACGAGTAA
Celera SNP ID:            hCV25613435
SNP Position Transcript:  277
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,40)   total(A,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1233, 14, (V,GTA)   (V,GTT)   



Gene Number:                 209
Celera Gene:                 hCG31839 - 83000099454100
Celera Transcript:           hCT2328212 - 83000099454115
Public Transcript Accession: NM_144620
Celera Protein:              hCP1788583 - 197000064921224
Public Protein Accession:    NP_653221
Gene Symbol:                 MGC14816
Protein Name:                hypothetical protein MGC14816
Celera Genomic Axis:         GA_x5YUV32VY6P(3438784..3468700)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:537):
TACATTTCACTTGGTTACAGCTGACTGGGGATTTTAATCATTTGGAGCCACACTGAAAAAAAAATTTCCCCCTGCAATCTACTCTTAACTGATAGTCGCT
AACTTTGGTTATGTGTGTCTATTCAGAATATTACATTAATTGATTTCTCAAACAAAGGTGTGCCTCTCATAAACAACACTCAGGATTTTGTCTTTTCTTT
AACTGGACAACCTTTGTATATTAACTTGGAACACTTAATCATCAGGGAAGTCCTTTCTGAAATGGTATCTATGATTCAGCTATTCAAAACCTAATGAAGT
TGGTGACTATGACAATGTGGAGAAATCATGACAGAAAATGTGGTTTGTACTGGGGCTGTCAATGCTGTWAAGGAAGTTTGGGAAAAAAGAATAAAGAAAC
TCAATGAAGACCTGAAGCGAGAGAAGGAATTTCAACACAAGCTAGTGCGGATCTGGGAAGAACGAGTAAGCTTAACCAAGCTAAGAGAAAAGGTCACCAG
GGAAGATGGAAGAGTCATTTTGAAGATAGAAAAAGAGGAATGGAAGACCCTCCCTTCTTCTCTGCTGAAACTGAATCAACTACAGGAATGGCAACTTCAT
AGAACTGGTTTGCTGAAAATTCCTGAATTCATTGGAAGATTCCAGAACCTCATTGTGTTAGATTTATCTCGAAACACAATTTCAGAGWTACCACCAGGGA
TTGGACTGCTTACTAGACTTCAGGAACTGATTCTCAGCTACAACAAAATCAAGACTGTCCCCAAGGAACTAAGTAATTGTGCCAGCTTGGAGAAACTAGA
ACTGGCTGTTAACAGAGATATATGTGATCTTCCACAAGAGCTCAGCAATCTGCTAAAACTTACTCACCTTGATCTGAGTATGAACGATTTTACTACAATC
CCTCTTGCTGTGTTGAACATGCCTGCCCTTGAGTGGCTGGACATGGGAAGCAACAAACTTGAACAACTTCCTGATACTATAGAAAGAATGCAAAATCTAC
ATACGTTATGGCTGCAACGAAATGAAATAACATGCTTGCCTCAAACAATCAGCAATATGAAAAATCTGGGTACTCTTGTTCTCAGCAACAATAAACTGCA
AGATATTCCAGTATGCATGGAAGAAATGGCAAATCTGAGGTTTGTCAACTTCAGAGACAACCCACTGAAATTGAAAGTATCACTTCCTCCCAGTGAAGGC
ACAGATGAAGAAGAGGAACGGGAATTATTTGGCCTTCAGTTTATGCACACATACATACAAGAGTCACGGAGAAGAGCAGATCACCAAGTCAACGGTTCAA
CTACTTTACCAATCTCCATAAATACGGATGGATAATATAATTCAAGATGCCCTTCTAAAGAGGATTACTTTGGTGAATTCTCTAATGTTTGGATTTCTGA
AGTAAAAAGAAAAGCTATTACCAAAGTTTAATGAGGCCACAGCATTTTTTAAAGTTCATATTATTTGCTATTTAAAGTATATATTTTTTTGATATAAAAA
TATAATTAAAAAAWTTTTTTTGGTGGAAGACAGATGATGCTCAAATTTCTTTTCCATTAAGCAGTTGTTTCTGGTGATGAAGAATGATTTGGTAAAGCAG
TTAACAAAACATTTTCCAAAGACACCAGAGGGTCTGTATAGTACTGCAAAGCAGGACTGAATCCCTTCTGCTGCAAATACTGGATTCGACCTTGGTCAAT
CAGCAATTTACAAAGATGCCCTATTTTCTTCTTTTCTTCAACACTAAGAAGCCTAAATTGAATAAACACACAYAAAACATTGTTAAAATTTTGCAAAAGT
TTATAAAAAATTATTTTTGTCACTATTTATTGAGAGACTGTTAACTAACCCATAATGTACTAAGTACTTTGTCCCATGCTTCCAAGACACATTATATTTA
TGACCACAATAAAAGATGTGTATATTTTAGCTTATTCTAAAATTAGATTATAAAATACATTTTCATGAATTGTTGATAATAGTCATCTAAAGTACAGTAC
AATATAATATTTCTCCTTTAGTATCATGCATTACAAAAGTAGTCTCTTACCCAGGCAAACAATCAGCGC

Protein Sequence    (SEQ ID NO:1234):
MTENVVCTGAVNAVKEVWEKRIKKLNEDLKREKEFQHKLVRIWEERVSLTKLREKVTREDGRVILKIEKEEWKTLPSSLLKLNQLQEWQLHRTGLLKIPE
FIGRFQNLIVLDLSRNTISEIPPGIGLLTRLQELILSYNKIKTVPKELSNCASLEKLELAVNRDICDLPQELSNLLKLTHLDLSMNDFTTIPLAVLNMPA
LEWLDMGSNKLEQLPDTIERMQNLHTLWLQRNEITCLPQTISNMKNLGTLVLSNNKLQDIPVCMEEMANLRFVNFRDNPLKLKVSLPPSEGTDEEEEREL
FGLQFMHTYIQESRRRADHQVNGSTTLPISINTDG


SNP Information

Context             (SEQ ID NO:9628):
GCAAATACTGGATTCGACCTTGGTCAATCAGCAATTTACAAAGATGCCCTATTTTCTTCTTTTCTTCAACACTAAGAAGCCTAAATTGAATAAACACACA
Y
AAAACATTGTTAAAATTTTGCAAAAGTTTATAAAAAATTATTTTTGTCACTATTTATTGAGAGACTGTTAACTAACCCATAATGTACTAAGTACTTTGTC
Celera SNP ID:            hCV8384372
SNP Position Transcript:  1773
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1234, None   



Context             (SEQ ID NO:9629):
GCTATTACCAAAGTTTAATGAGGCCACAGCATTTTTTAAAGTTCATATTATTTGCTATTTAAAGTATATATTTTTTTGATATAAAAATATAATTAAAAAA
W
TTTTTTTGGTGGAAGACAGATGATGCTCAAATTTCTTTTCCATTAAGCAGTTGTTTCTGGTGATGAAGAATGATTTGGTAAAGCAGTTAACAAAACATTT
Celera SNP ID:            hCV25613347
SNP Position Transcript:  1514
SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,28)   caucasian(A,6|T,34)   total(A,10|T,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1234, None

SNP Source:               Applera
Population(Allele,Count): african american(A,4|T,34)   caucasian(A,6|T,34)   total(A,10|T,68)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1234, None



Context             (SEQ ID NO:9630):
ATGGCAACTTCATAGAACTGGTTTGCTGAAAATTCCTGAATTCATTGGAAGATTCCAGAACCTCATTGTGTTAGATTTATCTCGAAACACAATTTCAGAG
W
TACCACCAGGGATTGGACTGCTTACTAGACTTCAGGAACTGATTCTCAGCTACAACAAAATCAAGACTGTCCCCAAGGAACTAAGTAATTGTGCCAGCTT
Celera SNP ID:            hCV25613447
SNP Position Transcript:  688
SNP Source:               Applera
Population(Allele,Count): african american(A,28|T,2)   caucasian(A,40)   total(A,68|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1234, 121, (I,ATA)   (L,TTA)   



Context             (SEQ ID NO:9631):
CTATGATTCAGCTATTCAAAACCTAATGAAGTTGGTGACTATGACAATGTGGAGAAATCATGACAGAAAATGTGGTTTGTACTGGGGCTGTCAATGCTGT
W
AAGGAAGTTTGGGAAAAAAGAATAAAGAAACTCAATGAAGACCTGAAGCGAGAGAAGGAATTTCAACACAAGCTAGTGCGGATCTGGGAAGAACGAGTAA
Celera SNP ID:            hCV25613435
SNP Position Transcript:  369
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,40)   total(A,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1234, 14, (V,GTA)   (V,GTT)   



Gene Number:                 210
Celera Gene:                 hCG32470 - 84000314984590
Celera Transcript:           hCT23659 - 84000314984591
Public Transcript Accession: NM_003713
Celera Protein:              hCP46477 - 197000064952456
Public Protein Accession:    NP_003704
Gene Symbol:                 PPAP2B
Protein Name:                phosphatidic acid phosphatase type 2B;Dri42;MGC15306;PAP-2b;PAP2-b;VCIP
Celera Genomic Axis:         GA_x5YUV32W802(26554798..26639679)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:538):
GACCTCGTGAAATAAAAGTGCAGAAAACAAACCCAGGCGATCACAGCAGCAGCCGCCGCGGCAGCAGCACCAACAGCAGGAGGAGCAGGAGGAGCCGGAG
GAGGAGGAGGAGGAGGAGGCAAAGTTAGAGTTGGGGCTGGCGCTCCGGAGTTGCTGGGCTCAGCGCAGCTCCCATTCATTAAGGAACCAGCTGCGGAGGA
AGGTGGCCGAGCGCCCGCGCTGCCCACTCGCTCGCTCGCGCACTCAGACGCGCGCCACAACAGCGCGCCCCAAGCTGCGCAGCTCTGCAAAAGTTTCTGC
TCGGGATCTGGCTCTCTTCCCCTTGGACTTTAGAACGATTTAGGGTTGACAGAGGAAAGCAGAGGCGCGCAGGAGGAGCAGAAAACACCACCTTCTGCAG
TTGGAGGCAGGCAGCCCCGGCTGCACTCTAGCCGCCGCGCCCGGAGCCGGGGCCGACCCGCCACTATCCGCAGCAGCCTCGGCCAGGAGGCGACCCGGGC
GCCTGGGTGTGTGGCTGCTGTTGCGGGACGTCTTCGCGGGGCGGGAGGCTCGCGCCGCAGCCAGCGCCATGCAAAACTACAAGTACGACAAAGCGATCGT
CCCGGAGAGCAAGAACGGCGGCAGCCCGGCGCTCAACAACAACCCGAGGAGGAGCGGCAGCAAGCGGGTGCTGCTCATCTGCCTCGACCTCTTCTGCCTC
TTCATGGCGGGCCTCCCCTTCCTCATCATCGAGACAAGCACCATCAAGCCTTACCACCGAGGGTTTTACTGCAATGATGAGAGCATCAAGTACCCACTGA
AAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGCRATCATCACGGGGGAATTCTACCGGATCTATTACCT
GAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCTTCCTCTTTGGCTGTGCCATCAGCCAGTCTTTCACA
GACATTGCCAAAGTGTCCATAGGGCGCCTGCGTCCTCACTTCTTGAGTGTCTGCAACCCTGATTTCAGCCAGATCAACTGCTCTGAAGGCTACATTCAGA
ACTACAGATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGT
GCTATAYCTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCT
CGCGTATCAGACCACAAGCACCATCCCAGTGATGTTCTGGCAGGATTTGCTCAAGGAGCCCTGGTGGCCTGCTGCATAGTTTTCTTCGTGTCTGACCTCT
TCAAGACTAAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGAT
GTAGGTGCYACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAA
ACTTTTGCCCGACTGATTTTTAAAAARGAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACT
AACACCAAGTGCCAGAGTCCTGGATGTGCAATTGGTTTAAGTGTTCATGTTCTAGTGAACACAGCTTGTTCAGGAACAAACACTAAAACGATTTGAGTAG
AGGCTGCTGGTCACCTTTTGTGACCTGAGGAATCCCAGGCCTGTGAGAAAAGCAAAAATTCACATTGCAGCACATGATGCCAGAAATAGCACTGAATCAA
GAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTTYAGTTCAGGAAGTTTTGTTTTGTGTTTTAA
ATAAAAGGAAAGAGCAAGTTTGCTCAGTCAAGTGATCAGATCCCGAATCTAGATTCCCAGTTCTAAGGCCTTATCACCTCCCCTGCCCATAGGCCAACAA
CCATAGTTCCTCACATTAGTGATTAGCAGACTCTTTGTGGACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTT
TTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCARTTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACA
GTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCTGCGTGCCCACCAGGATTTCCTGTGAGGGCCCGGGAATGAGCAAGGCATGGTCTGCCACC
AGCTGACGGAAAGCAGCCTTCTGTACAACAGATGGGAGGGTGAAGGGGGCAGAATGAAAATCGAACCAACCTTTTAGCTGTTGCAAATCAGAAGGAGCCA
GAGAAGCAGGCAGTCTCATGCATGAGAGGTTACCCTTCAGGATGACAGAGCTGAGGGTCTTTGTAGGAGTTGCTCTTGCTGTGTAAAGCACTATTGTCTT
GGGGTTGAGCCCTAGGGCAGTTCTTGGTAGGTTCTGCTGGGCAGAACATATGGGTTAAATCTCGGTAGAGAGTTTTCCTCATCCTCTATCCGTAAGTGTC
CTTCCATGCAAGGTCCCACTCTAGGTGATAGACAGGGACCCCTTCTACTGAACCTTTGAGGAAAGGAGGAAGGAAGAAATGCGTTTAGATCTTGGATGCA
GACCTTTCAAAGGGTTAAATGTAACCATATGGATCAACCACATGCACATCCTTACTACAGAATCCGTCCTTTCATTTCAACTTATAGCAAGCTATGATTT
TTATATATAAATATTATATAAATAATGTATAAAACATTAAAAGTTAACTATGTAAGATATTATTTCTGAAACAATTTAGCTATATCCACTATGATTATAA
ACTGTGTCTCGACCTGTGTTATTTACATTAGCTGCTTAAAAAAGCATTGAGTTAATTTTTTWAAATATCAACTAAAATATCATAGTTCTGTGGTAGACAT
TGTTTTATAATGAAATAACTGCAACTAGAGAAAACTGTATAAAAACATTAAATTGTCAGTATTTTTGTAAGGTTCCATTTTGTAAAGAGAATAATATTCA
AAGACTTTTGTAGCATACAAAGTGAAAACTTGTATCTGCGAAACTATACTTGTATTAAATGTGCTTTTTAAATAAAAGCTCGTAACACAACTAA

Protein Sequence    (SEQ ID NO:1235):
MQNYKYDKAIVPESKNGGSPALNNNPRRSGSKRVLLICLDLFCLFMAGLPFLIIETSTIKPYHRGFYCNDESIKYPLKTGETINDAVLCAVGIVIAILAI
ITGEFYRIYYLKKSRSTIQNPYVAALYKQVGCFLFGCAISQSFTDIAKVSIGRLRPHFLSVCNPDFSQINCSEGYIQNYRCRGDDSKVQEARKSFFSGHA
SFSMYTMLYLVLYLQARFTWRGARLLRPLLQFTLIMMAFYTGLSRVSDHKHHPSDVLAGFAQGALVACCIVFFVSDLFKTKTTLSLPAPAIRKEILSPVD
IIDRNNHHNMM


SNP Information

Context             (SEQ ID NO:9632):
TTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGC
R
ATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCT
Celera SNP ID:            hCV25750954
SNP Position Transcript:  865
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,2|G,36)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1235, 99, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:9633):
TTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATTTTTAAAAA
R
GAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGTCCTGGATGT
Celera SNP ID:            hCV8328531
SNP Position Transcript:  1627
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1235, None   



Context             (SEQ ID NO:9634):
AAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGC
Y
ACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCC
Celera SNP ID:            hCV8328524
SNP Position Transcript:  1509
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1235, None   



Context             (SEQ ID NO:9635):
CACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTT
Y
AGTTCAGGAAGTTTTGTTTTGTGTTTTAAATAAAAGGAAAGAGCAAGTTTGCTCAGTCAAGTGATCAGATCCCGAATCTAGATTCCCAGTTCTAAGGCCT
Celera SNP ID:            hCV3080976
SNP Position Transcript:  1971
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(T,92|C,96)   total(C,96|T,92)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1235, None   



Context             (SEQ ID NO:9636):
ACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCA
R
TTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCT
Celera SNP ID:            hCV3080977
SNP Position Transcript:  2241
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1235, None   



Context             (SEQ ID NO:9637):
GATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATA
Y
CTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTAT
Celera SNP ID:            hCV27490621
SNP Position Transcript:  1207
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,107|C,1388)   total(C,1388|T,107) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1235, 213, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9638):
ATTTCTGAAACAATTTAGCTATATCCACTATGATTATAAACTGTGTCTCGACCTGTGTTATTTACATTAGCTGCTTAAAAAAGCATTGAGTTAATTTTTT
W
AAATATCAACTAAAATATCATAGTTCTGTGGTAGACATTGTTTTATAATGAAATAACTGCAACTAGAGAAAACTGTATAAAAACATTAAATTGTCAGTAT
Celera SNP ID:            hCV26467907
SNP Position Transcript:  3062
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1235, None   



Gene Number:                 210
Celera Gene:                 hCG32470 - 84000314984590
Celera Transcript:           hCT2332995 - 84000314984601
Public Transcript Accession: NM_003713
Celera Protein:              hCP1809816 - 197000064952457
Public Protein Accession:    NP_003704
Gene Symbol:                 PPAP2B
Protein Name:                phosphatidic acid phosphatase type 2B;Dri42;MGC15306;PAP-2b;PAP2-b;VCIP
Celera Genomic Axis:         GA_x5YUV32W802(26489117..26639679)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:539):
AGGGGCGCGGGGCGGGCGCGGGGTCCCGGGAGAGGGCGCTGGGCGCTTCGGGCCCAGATCATCTTTCTTGCTGACAAGTATCATCTAGGAATCACTCTAC
CTCGCTGGCAATTTTGAGAAAATAGCCAGTTATTTTTGTGCTGAACTTTCATCTGGTTAAGGGTCATTCCTTCAGTATTCAAGACCTCGTGAAATAAAAG
TGCAGAAAACAAACCCAGGCGATCACAGCAGCAGCCGCCGCGGCAGCAGCACCAACAGCAGGAGGAGCAGGAGGAGCCGGAGGAGGAGGAGGAGGAGGAG
GCAAAGTTAGAGTTGGGGCTGGCGCTCCGGAGTTGCTGGGCTCAGCGCAGCTCCCATTCATTAAGGAACCAGCTGCGGAGGAAGGTGGCCGAGCGCCCGC
GCTGCCCACTCGCTCGCTCGCGCACTCAGACGCGCGCCACAACAGCGCGCCCCAAGCTGCGCAGCTCTGCAAAAGTTTCTGCTCGGGATCTGGCTCTCTT
CCCCTTGGACTTTAGAACGATTTAGGGTTGACAGAGGAAAGCAGAGGCGCGCAGGAGGAGCAGAAAACACCACCTTCTGCAGTTGGAGGCAGGCAGCCCC
GGCTGCACTCTAGCCGCCGCGCCCGGAGCCGGGGCCGACCCGCCACTATCCGCAGCAGCCTCGGCCAGGAGGCGACCCGGGCGCCTGGGTGTGTGGCTGC
TGTTGCGGGACGTCTTCGCGGGGCGGGAGGCTCGCGCCGCAGCCAGCGCCATGCAAAACTACAAGTACGACAAAGCGATCGTCCCGGAGAGCAAGAACGG
CGGCAGCCCGGCGCTCAACAACAACCCGAGGAGGAGCGGCAGCAAGCGGGTGCTGCTCATCTGCCTCGACCTCTTCTGCCTCTTCATGGCGGGCCTCCCC
TTCCTCATCATCGAGACAAGCACCATCAAGCCTTACCACCGAGGGTTTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAA
ATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGCRATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGAC
GATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCTTCCTCTTTGGCTGTGCCATCAGCCAGTCTTTCACAGACATTGCCAAAGTGTCC
ATAGGGCGCCTGCGTCCTCACTTCTTGAGTGTCTGCAACCCTGATTTCAGCCAGATCAACTGCTCTGAAGGCTACATTCAGAACTACAGATGCAGAGGTG
ATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATAYCTGCAGGCCCG
CTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTATCAGACCACAAG
CACCATCCCAGTGATGTTCTGGCAGGATTTGCTCAAGGAGCCCTGGTGGCCTGCTGCATAGTTTTCTTCGTGTCTGACCTCTTCAAGACTAAGACGACGC
TCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGCYACCCACCTC
CTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATT
TTTAAAAARGAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGT
CCTGGATGTGCAATTGGTTTAAGTGTTCATGTTCTAGTGAACACAGCTTGTTCAGGAACAAACACTAAAACGATTTGAGTAGAGGCTGCTGGTCACCTTT
TGTGACCTGAGGAATCCCAGGCCTGTGAGAAAAGCAAAAATTCACATTGCAGCACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGA
GCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTTYAGTTCAGGAAGTTTTGTTTTGTGTTTTAAATAAAAGGAAAGAGCAAG
TTTGCTCAGTCAAGTGATCAGATCCCGAATCTAGATTCCCAGTTCTAAGGCCTTATCACCTCCCCTGCCCATAGGCCAACAACCATAGTTCCTCACATTA
GTGATTAGCAGACTCTTTGTGGACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATC
ATCCTGTGATGTTGAAATGTCARTTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTG
CCTTCTCCCTTGAAATCCTTGCTGCGTGCCCACCAGGATTTCCTGTGAGGGCCCGGGAATGAGCAAGGCATGGTCTGCCACCAGCTGACGGAAAGCAGCC
TTCTGTACAACAGATGGGAGGGTGAAGGGGGCAGAATGAAAATCGAACCAACCTTTTAGCTGTTGCAAATCAGAAGGAGCCAGAGAAGCAGGCAGTCTCA
TGCATGAGAGGTTACCCTTCAGGATGACAGAGCTGAGGGTCTTTGTAGGAGTTGCTCTTGCTGTGTAAAGCACTATTGTCTTGGGGTTGAGCCCTAGGGC
AGTTCTTGGTAGGTTCTGCTGGGCAGAACATATGGGTTAAATCTCGGTAGAGAGTTTTCCTCATCCTCTATCCGTAAGTGTCCTTCCATGCAAGGTCCCA
CTCTAGGTGATAGACAGGGACCCCTTCTACTGAACCTTTGAGGAAAGGAGGAAGGAAGAAATGCGTTTAGATCTTGGATGCAGACCTTTCAAAGGGTTAA
ATGTAACCATATGGATCAACCACATGCACATCCTTACTACAGAATCCGTCCTTTCATTTCAACTTATAGCAAGCTATGATTTTTATATATAAATATTATA
TAAATAATGTATAAAACATTAAAAGTTAACTATGTAAGATATTATTTCTGAAACAATTTAGCTATATCCACTATGATTATAAACTGTGTCTCGACCTGTG
TTATTTACATTAGCTGCTTAAAAAAGCATTGAGTTAATTTTTTWAAATATCAACTAAAATATCATAGTTCTGTGGTAGACATTGTTTTATAATGAAATAA
CTGCAACTAGAGAAAACTGTATAAAAACATTAAATTGTCAGTATTTTTGTAAGGTTCCATTTTGTAAAGAGAATAATATTCAAAGACTTTTGTAGCATAC
AAAGTGAAAACTTGTATCTGCGAAACTATACTTGTATTAAATGTGCTTTTTAAATAAAAGCTCGTAACACAACTAA

Protein Sequence    (SEQ ID NO:1236):
MQNYKYDKAIVPESKNGGSPALNNNPRRSGSKRVLLICLDLFCLFMAGLPFLIIETSTIKPYHRGFYCNDESIKYPLKTGETINDAVLCAVGIVIAILAI
ITGEFYRIYYLKKSRSTIQNPYVAALYKQVGCFLFGCAISQSFTDIAKVSIGRLRPHFLSVCNPDFSQINCSEGYIQNYRCRGDDSKVQEARKSFFSGHA
SFSMYTMLYLVLYLQARFTWRGARLLRPLLQFTLIMMAFYTGLSRVSDHKHHPSDVLAGFAQGALVACCIVFFVSDLFKTKTTLSLPAPAIRKEILSPVD
IIDRNNHHNMM


SNP Information

Context             (SEQ ID NO:9639):
TTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGC
R
ATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCT
Celera SNP ID:            hCV25750954
SNP Position Transcript:  1047
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,2|G,36)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1236, 99, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:9640):
TTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATTTTTAAAAA
R
GAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGTCCTGGATGT
Celera SNP ID:            hCV8328531
SNP Position Transcript:  1809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1236, None   



Context             (SEQ ID NO:9641):
AAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGC
Y
ACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCC
Celera SNP ID:            hCV8328524
SNP Position Transcript:  1691
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1236, None   



Context             (SEQ ID NO:9642):
CACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTT
Y
AGTTCAGGAAGTTTTGTTTTGTGTTTTAAATAAAAGGAAAGAGCAAGTTTGCTCAGTCAAGTGATCAGATCCCGAATCTAGATTCCCAGTTCTAAGGCCT
Celera SNP ID:            hCV3080976
SNP Position Transcript:  2153
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(T,92|C,96)   total(C,96|T,92)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1236, None   



Context             (SEQ ID NO:9643):
ACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCA
R
TTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCT
Celera SNP ID:            hCV3080977
SNP Position Transcript:  2423
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1236, None   



Context             (SEQ ID NO:9644):
GATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATA
Y
CTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTAT
Celera SNP ID:            hCV27490621
SNP Position Transcript:  1389
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,107|C,1388)   total(C,1388|T,107) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1236, 213, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9645):
ATTTCTGAAACAATTTAGCTATATCCACTATGATTATAAACTGTGTCTCGACCTGTGTTATTTACATTAGCTGCTTAAAAAAGCATTGAGTTAATTTTTT
W
AAATATCAACTAAAATATCATAGTTCTGTGGTAGACATTGTTTTATAATGAAATAACTGCAACTAGAGAAAACTGTATAAAAACATTAAATTGTCAGTAT
Celera SNP ID:            hCV26467907
SNP Position Transcript:  3244
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1236, None   



Gene Number:                 210
Celera Gene:                 hCG32470 - 84000314984590
Celera Transcript:           hCT2332994 - 84000314984628
Public Transcript Accession: NM_003713
Celera Protein:              hCP1809818 - 197000064952459
Public Protein Accession:    NP_003704
Gene Symbol:                 PPAP2B
Protein Name:                phosphatidic acid phosphatase type 2B;Dri42;MGC15306;PAP-2b;PAP2-b;VCIP
Celera Genomic Axis:         GA_x5YUV32W802(26489117..26639190)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:540):
AGGGGCGCGGGGCGGGCGCGGGGTCCCGGGAGAGGGCGCTGGGCGCTTCGGGCCCAGATCATCTTTCTTGCTGACAAGTATCATCTAGGAATCACTCTAC
CTCGCTGGCAATTTTGAGAAAATAGCCAGTTATTTTTGTGCTGAACTTTCATCTGGTTAAGGGTCATTCCTTCAGTATTCAAGACCTCGTGAAATAAAAG
TGCAGAAAACAAACCCAGGCGATCACAGCAGCAGCCGCCGCGGCAGCAGCACCAACAGCAGGAGGAGCAGGAGGAGCCGGAGGAGGAGGAGGAGGAGGAG
GCAAAGTTAGAGTTGGGGCTGGCGCTCCGGAGTTGCTGGGCTCAGCGCAGCTCCCATTCATTAAGGAACCAGCTGCGGAGGAAGGTGGCCGAGCGCCCGC
GCTGCCCACTCGCTCGCTCGCGCACTCAGACGCGCGCCACAACAGCGCGCCCCAAGCTGCGCAGCTCTGCAAAAGTTTCTGCTCGGGATCTGGCTCTCTT
CCCCTTGGACTTTAGAACGATTTAGGGTTGACAGAGGAAAGCAGAGGCGCGCAGGAGGAGCAGAAAACACCACCTTCTGCAGTTGGAGGCAGGCAGCCCC
GGCTGCACTCTAGCCGCCGCGCCCGGAGCCGGGGCCGACCCGCCACTATCCGCAGCAGCCTCGGCCAGGAGGCGACCCGGGCGCCTGGGTGTGTGGCTGC
TGTTGCGGGACGTCTTCGCGGGGCGGGAGGCTCGCGCCGCAGCCAGCGCCATGCAAAACTACAAGTACGACAAAGCGATCGTCCCGGAGAGCAAGAACGG
CGGCAGCCCGGCGCTCAACAACAACCCGAGGAGGAGCGGCAGCAAGCGGGTGCTGCTCATCTGCCTCGACCTCTTCTGCCTCTTCATGGCGGGCCTCCCC
TTCCTCATCATCGAGACAAGCACCATCAAGCCTTACCACCGAGGGTTTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAA
ATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGCRATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGAC
GATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCTTCCTCTTTGGCTGTGCCATCAGCCAGTCTTTCACAGACATTGCCAAAGTGTCC
ATAGGGCGCCTGCGTCCTCACTTCTTGAGTGTCTGCAACCCTGATTTCAGCCAGATCAACTGCTCTGAAGGCTACATTCAGAACTACAGATGCAGAGGTG
ATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATAYCTGCAGGCCCG
CTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTATCAGACCACAAG
CACCATCCCAGTGATGTTCTGGCAGGATTTGCTCAAGGAGCCCTGGTGGCCTGCTGCATAGTTTTCTTCGTGTCTGACCTCTTCAAGACTAAGACGACGC
TCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGCYACCCACCTC
CTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATT
TTTAAAAARGAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGT
CCTGGATGTGCAATTGGTTTAAGTGTTCATGTTCTAGTGAACACAGCTTGTTCAGGAACAAACACTAAAACGATTTGAGTAGAGGCTGCTGGTCACCTTT
TGTGACCTGAGGAATCCCAGGCCTGTGAGAAAAGCAAAAATTCACATTGCAGCACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGA
GCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTTYAGTTCAGGAAGTTTTGTTTTGTATTCCCAGTTCTAAGGCCTTATCAC
CTCCCCTGCCCATAGGCCAACAACCATAGTTCCTCACATTAGTGATTAGCAGACTCTTTGTGGACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAA
ATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCARTTGCAGGATGCTGATGTTGTGCACGTCAATCACCGG
GCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCTGCGTGCCCACCAGGATTTCCTGTGAGGGCCCGGGAA
TGAGCAAGGCATGGTCTGCCACCAGCTGACGGAAAGCAGCCTTCTGTACAACAGATGGGAGGGTGAAGGGGGCAGAATGAAAATCGAACCAACCTTTTAG
CTGTTGCAAATCAGAAGGAGCCAGAGAAGCAGGCAGTCTCATGCATGAGAGGTTACCCTTCAGGATGACAGAGCTGAGGGTCTTTGTAGGAGTTGCTCTT
GCTGTGTAAAGCACTATTGTCTTGGGGTTGAGCCCTAGGGCAGTTCTTGGTAGGTTCTGCTGTGTCCTTCCATGCAAGGTCCCACTCTAGGTGATAGACA
GGGACCCCTTCTACTGAACCTTTGAGGAAAGGAGGAAGGAAGAAATGCGTTTAGATCTTGGATGCAGACCT

Protein Sequence    (SEQ ID NO:1237):
MQNYKYDKAIVPESKNGGSPALNNNPRRSGSKRVLLICLDLFCLFMAGLPFLIIETSTIKPYHRGFYCNDESIKYPLKTGETINDAVLCAVGIVIAILAI
ITGEFYRIYYLKKSRSTIQNPYVAALYKQVGCFLFGCAISQSFTDIAKVSIGRLRPHFLSVCNPDFSQINCSEGYIQNYRCRGDDSKVQEARKSFFSGHA
SFSMYTMLYLVLYLQARFTWRGARLLRPLLQFTLIMMAFYTGLSRVSDHKHHPSDVLAGFAQGALVACCIVFFVSDLFKTKTTLSLPAPAIRKEILSPVD
IIDRNNHHNMM


SNP Information

Context             (SEQ ID NO:9646):
TTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGC
R
ATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCT
Celera SNP ID:            hCV25750954
SNP Position Transcript:  1047
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,2|G,36)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1237, 99, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:9647):
TTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATTTTTAAAAA
R
GAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGTCCTGGATGT
Celera SNP ID:            hCV8328531
SNP Position Transcript:  1809
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1237, None   



Context             (SEQ ID NO:9648):
AAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGC
Y
ACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCC
Celera SNP ID:            hCV8328524
SNP Position Transcript:  1691
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1237, None   



Context             (SEQ ID NO:9649):
CACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTT
Y
AGTTCAGGAAGTTTTGTTTTGTATTCCCAGTTCTAAGGCCTTATCACCTCCCCTGCCCATAGGCCAACAACCATAGTTCCTCACATTAGTGATTAGCAGA
Celera SNP ID:            hCV3080976
SNP Position Transcript:  2153
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(T,92|C,96)   total(C,96|T,92)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1237, None   



Context             (SEQ ID NO:9650):
ACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCA
R
TTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCT
Celera SNP ID:            hCV3080977
SNP Position Transcript:  2364
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1237, None   



Context             (SEQ ID NO:9651):
GATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATA
Y
CTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTAT
Celera SNP ID:            hCV27490621
SNP Position Transcript:  1389
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,107|C,1388)   total(C,1388|T,107) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1237, 213, (Y,TAC)   (Y,TAT)      



Gene Number:                 210
Celera Gene:                 hCG32470 - 84000314984590
Celera Transcript:           hCT2332992 - 84000314984613
Public Transcript Accession: NM_003713
Celera Protein:              hCP1809817 - 197000064952458
Public Protein Accession:    NP_003704
Gene Symbol:                 PPAP2B
Protein Name:                phosphatidic acid phosphatase type 2B;Dri42;MGC15306;PAP-2b;PAP2-b;VCIP
Celera Genomic Axis:         GA_x5YUV32W802(26489117..26639190)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:541):
AGGGGCGCGGGGCGGGCGCGGGGTCCCGGGAGAGGGCGCTGGGCGCTTCGGGCCCAGATCATCTTTCTTGCTGACAAGTATCATCTAGGAATCACTCTAC
CTCGCTGGCAATTTTGAGAAAATAGCCAGTTATTTTTGTGCTGAACTTTCATCTGGTTAAGGGTCATTCCTTCAGTATTCAAGACCTCGTGAAATAAAAG
TGCAGAAAACAAACCCAGGCGATCACAGCAGCAGCCGCCGCGGCAGCAGCACCAACAGCAGGAGGAGCAGGAGGAGCCGGAGGAGGAGGAGGAGGAGGAG
GCAAAGTTAGAGTTGGGGCTGGCGCTCCGGAGTTGCTGGGCTCAGCGCAGCTCCCATTCATTAAGGAACCAGCTGCGGAGGAAGGTGGCCGAGCGCCCGC
GCTGCCCACTCGCTCGCTCGCGCACTCAGACGCGCGCCACAACAGCGCGCCCCAAGCTGCGCAGCTCTGCAAAAGTTTCTGCTCGGGATCTGGCTCTCTT
CCCCTTGGACTTTAGAACGATTTAGGGTTGACAGAGGAAAGCAGAGGCGCGCAGGAGGAGCAGAAAACACCACCTTCTGCAGTTGGAGGGCAGCAGCCTC
GGCCAGGAGGCGACCCGGGCGCCTGGGTGTGTGGCTGCTGTTGCGGGACGTCTTCGCGGGGCGGGAGGCTCGCGCCGCAGCCAGCGCCATGCAAAACTAC
AAGTACGACAAAGCGATCGTCCCGGAGAGCAAGAACGGCGGCAGCCCGGCGCTCAACAACAACCCGAGGAGGAGCGGCAGCAAGCGGGTGCTGCTCATCT
GCCTCGACCTCTTCTGCCTCTTCATGGCGGGCCTCCCCTTCCTCATCATCGAGACAAGCACCATCAAGCCTTACCACCGAGGGTTTTACTGCAATGATGA
GAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGCRATCATCACGGGGGAA
TTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCTTCCTCTTTGGCTGTG
CCATCAGCCAGTCTTTCACAGACATTGCCAAAGTGTCCATAGGGCGCCTGCGTCCTCACTTCTTGAGTGTCTGCAACCCTGATTTCAGCCAGATCAACTG
CTCTGAAGGCTACATTCAGAACTACAGATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATG
TACACTATGCTGTATTTGGTGCTATAYCTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGG
CCTTCTACACGGGACTGTCTCGCGTATCAGACCACAAGCACCATCCCAGTGATGTTCTGGCAGGATTTGCTCAAGGAGCCCTGGTGGCCTGCTGCATAGT
TTTCTTCGTGTCTGACCTCTTCAAGACTAAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGG
AACAATCACCACAACATGATGTAGGTGCYACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAG
ACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATTTTTAAAAARGAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTA
TGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGTCCTGGATGTGCAATTGGTTTAAGTGTTCATGTTCTAGTGAACACAGCTTGTTCAGGAACAAA
CACTAAAACGATTTGAGTAGAGGCTGCTGGTCACCTTTTGTGACCTGAGGAATCCCAGGCCTGTGAGAAAAGCAAAAATTCACATTGCAGCACATGATGC
CAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTTYAGTTCAGGA
AGTTTTGTTTTGTATTCCCAGTTCTAAGGCCTTATCACCTCCCCTGCCCATAGGCCAACAACCATAGTTCCTCACATTAGTGATTAGCAGACTCTTTGTG
GACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTC
ARTTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTG
CTGCGTGCCCACCAGGATTTCCTGTGAGGGCCCGGGAATGAGCAAGGCATGGTCTGCCACCAGCTGACGGAAAGCAGCCTTCTGTACAACAGATGGGAGG
GTGAAGGGGGCAGAATGAAAATCGAACCAACCTTTTAGCTGTTGCAAATCAGAAGGAGCCAGAGAAGCAGGCAGTCTCATGCATGAGAGGTTACCCTTCA
GGATGACAGAGCTGAGGGTCTTTGTAGGAGTTGCTCTTGCTGTGTAAAGCACTATTGTCTTGGGGTTGAGCCCTAGGGCAGTTCTTGGTAGGTTCTGCTG
TGTCCTTCCATGCAAGGTCCCACTCTAGGTGATAGACAGGGACCCCTTCTACTGAACCTTTGAGGAAAGGAGGAAGGAAGAAATGCGTTTAGATCTTGGA
TGCAGACCT

Protein Sequence    (SEQ ID NO:1238):
MQNYKYDKAIVPESKNGGSPALNNNPRRSGSKRVLLICLDLFCLFMAGLPFLIIETSTIKPYHRGFYCNDESIKYPLKTGETINDAVLCAVGIVIAILAI
ITGEFYRIYYLKKSRSTIQNPYVAALYKQVGCFLFGCAISQSFTDIAKVSIGRLRPHFLSVCNPDFSQINCSEGYIQNYRCRGDDSKVQEARKSFFSGHA
SFSMYTMLYLVLYLQARFTWRGARLLRPLLQFTLIMMAFYTGLSRVSDHKHHPSDVLAGFAQGALVACCIVFFVSDLFKTKTTLSLPAPAIRKEILSPVD
IIDRNNHHNMM


SNP Information

Context             (SEQ ID NO:9652):
TTTACTGCAATGATGAGAGCATCAAGTACCCACTGAAAACTGGTGAGACAATAAATGACGCTGTGCTCTGTGCCGTGGGGATCGTCATTGCCATCCTCGC
R
ATCATCACGGGGGAATTCTACCGGATCTATTACCTGAAGAAGTCGCGGTCGACGATTCAGAACCCCTACGTGGCAGCACTCTATAAGCAAGTGGGCTGCT
Celera SNP ID:            hCV25750954
SNP Position Transcript:  985
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,2|G,36)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1238, 99, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:9653):
TTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCCCGACTGATTTTTAAAAA
R
GAAAAAAAAAATGTTTTACTATGTGGCCTTCCAAAATAGGTAGTGTTTGCCTATGTGGAAACAACAGCAAACTAACACCAAGTGCCAGAGTCCTGGATGT
Celera SNP ID:            hCV8328531
SNP Position Transcript:  1747
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1238, None   



Context             (SEQ ID NO:9654):
AAGACGACGCTCTCCCTGCCTGCCCCTGCTATCCGGAAGGAAATCCTTTCACCTGTGGACATTATTGACAGGAACAATCACCACAACATGATGTAGGTGC
Y
ACCCACCTCCTGAGCTGTTTTTGTAAAATGACTGCTGACAGCAAGTTCTTGCTGCTCTCCAATCTCATCAGACAGTAGAATGTAGGGAAAAACTTTTGCC
Celera SNP ID:            hCV8328524
SNP Position Transcript:  1629
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1238, None   



Context             (SEQ ID NO:9655):
CACATGATGCCAGAAATAGCACTGAATCAAGAAAATAGCCATTGCGGAGCTGCCCTCTTGAGTCTTTCTGTCCATCCCATTCTATTCTGTACTGTGACTT
Y
AGTTCAGGAAGTTTTGTTTTGTATTCCCAGTTCTAAGGCCTTATCACCTCCCCTGCCCATAGGCCAACAACCATAGTTCCTCACATTAGTGATTAGCAGA
Celera SNP ID:            hCV3080976
SNP Position Transcript:  2091
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(T,-|C,-)   ;POOLE|_CEPH(T,92|C,96)   total(C,96|T,92)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1238, None   



Context             (SEQ ID NO:9656):
ACGAGTGAATTTCACAAACAGCACAATTTCAGAAGAAATCGAGGGCACAGGCCCTCACTTTTCTTCTTTTGACGCATCATCCTGTGATGTTGAAATGTCA
R
TTGCAGGATGCTGATGTTGTGCACGTCAATCACCGGGCACTTGCATACTCTTAGAAACAGTTCGACTTCGGTTACTGCCTTCTCCCTTGAAATCCTTGCT
Celera SNP ID:            hCV3080977
SNP Position Transcript:  2302
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1238, None   



Context             (SEQ ID NO:9657):
GATGCAGAGGTGATGACAGCAAAGTCCAGGAAGCCAGGAAGTCCTTCTTCTCTGGCCATGCCTCCTTCTCCATGTACACTATGCTGTATTTGGTGCTATA
Y
CTGCAGGCCCGCTTCACTTGGCGAGGAGCCCGCCTGCTCCGGCCCCTCCTGCAGTTCACCTTGATCATGATGGCCTTCTACACGGGACTGTCTCGCGTAT
Celera SNP ID:            hCV27490621
SNP Position Transcript:  1327
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,107|C,1388)   total(C,1388|T,107) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1238, 213, (Y,TAC)   (Y,TAT)      



Gene Number:                 211
Celera Gene:                 hCG32716 - 104000117829009
Celera Transcript:           hCT23665 - 104000117829010
Public Transcript Accession: NM_004153
Celera Protein:              hCP46021 - 197000064952640
Public Protein Accession:    NP_004144
Gene Symbol:                 ORC1L
Protein Name:                origin recognition complex, subunit 1-like (yeast);HSORC1;ORC1;PARC1
Celera Genomic Axis:         GA_x5YUV32W802(30728101..30759734)
Chromosome:                  Chr1
OMIM number:                 601902
OMIM Information:            ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF;ORC1L


Transcript Sequence (SEQ ID NO:542):
GCGGGGCCACGCCGATTGGCGCGAAGTTTTCTTTTCTCCTTCCACCTTCTTTTCATTTCTAGTGAGACACACGCTTTGGTCCTGGCTTTCGGCCCGTAGT
TGTAGAAGGAGCCCTGCTGGTGCAGGTTAGAGGTGCCGCATCCCCCGGAGCTCTCGAAGTGGAGGCGGTAGGAAACGGAGGGCTTGCGGCTAGCCGGAGG
AAGCTTTGGAGCCGGAAGCCATGGCACACTACCCCACAAGGCTGAAGACCAGAAAAACTTATTCATGGGTTGGCAGSCCCTTGTTGGATCGAAAACTGCA
CTACCAAACCTATAGAGAAATGTGTGTGAAAACAGAAGGTTGTTCCACCGAGATTCACATCCAGATTGGACAGTTTGTGTTGATTGAAGGGGATGATGAT
GAAAACCCGTATGTTGCTAAATTGCTTGAGTTGTTCGAAGATGACTCTGATCCTCCTCCTAAGAAACGTGCTCGAGTACAGTGGTTTGTCCGATTCTGTG
AAGTCCCTGCCTGTAAACGGCATTTGTTGGGCCGGAAGCCTGGTGCACAGGAAATATTCTGGTATGATTACCCGGCCTGTGACAGCAACATTAATGCGGA
GACCATCATTGGCCTTGTTCGGGTGATACCTTTAGCCCCAAAGGATGTGGTACCGACGAATCTGAAAAATGAGAAGACACTCTTTGTGAAACTATCCTGG
AATGAGAAGAAATTCAGGCCACTTTCCTCAGAACTATTTGCGGAGTTGAATAAACCACAMGAGAGTGCAGCCAAGTGCCAGAAACCCRTGAGAGCCAAGA
GTAAGAGTGCAGAGAGCCCTTCTTGGACCCCAGCAGAACATGTGGCCAAAAGGATTGAATCAAGGCACTCCGCCTCCAAATCTCGCCAAACTCCTACCCA
TCCTCTTACCCCAAGAGCCAGAAAGAGGCTGGAGCTTGGCAACTTAGGTAACCCTCAGATGTCCCAGCAGACTTCATGTGCCTCCTTGGATTCTCCAGGA
AGAATAAAACGGAAAGTGGCCTTCTCGGAGATCACCTCACCTTCTAAGAGATCTCAGCCTGATAAACTTCAAACCTTGTCTCCAGCTCTGAAAGCCCCAG
AGAAAACCAGAGAGACTGGACTCTCTTATACTGAGGATGACAAGAAGGCTTCACCTGAACATCGCATAATCCTGAGAACCCGAATTGCAGCTTCGAAAAC
CATAGACATTAGAGAGGAGAGAACACTTACCCCTATCAGTGGGGGACAGAGATCTTCAGTGGTGCCATCCGTGATTCTGAAACCAGAAAACATCAAAAAG
AGGGATGCAAAAGAAGCAAAAGCCCAGAATGAAGYGACCTCTACTCCCCATCGTATCCGCAGAAAGAGTTCTGTCTTGACTATGAATCGGATTAGGCAGC
AGCTTCGGTTTCTAGGTAATAGTAAAAGTGACCAAGAAGAGAAAGAGATTCTGCCAGCAGCAGAGATTTCAGACTCTAGCAGTGACGAAGAAGAGGCTTC
CACACCGCCCCTTCCAAGGAGAGCACCCAGAACTGTGTCCAKGAACCTGCGATCTTCCTTGAAGTCATCCTTACATACCCTCACGRAGGTGCCAAAGAAG
AGTCTCAAGCCTAGAAYGCCACGTTRTGCCGCTCCTCAGATCCGTAGTCGAAGCCTGGCTGCCCAGGAGCCAGCCAGTGTGCTGGAGGAAGCCCGACTGA
GGCTGCATGTTTCTGCTGTACCTGAGTCTCTTCCCTGTCGGGAACAGGAATTCCAAGACATCTACAATTTTGTGGAAAGCAAACTCCTTGACCATACCGG
AGGGTGCATGTACATCTCCGGTGTCCCTGGGACAGGGAAGACTGCCACTGTTCATGAAGTGATACGCTGCCTGCAGCAGGCAGCCCAAGCCAATGATGTT
CSTCCCTTTCARTACATTGAGGTCAATGGCATGAAGCTGACGGAGCCCCACCAAGTCTATGTGCAAATCTTGCAGAAGCTAACAGGCCAAAAAGCAACAG
CCAACCATGCGGCAGAACTGCTGGCAAAGCAATTCTGCACCCGAGGGTCACCTCAGGAAACCACCGTCCTGCTTGTGGATGAGCTCGACCTTCTGTGGAC
TCACAAACAAGACATAATGTACAATCTCTTTGACTGGCCCACTCATAAGGAGGCCCGGCTTGTGGTCCTGGCAATTGCCAACACAATGGACCTGCCAGAG
CGAATCATGATGAACCGGGTGTCCAGCCGACTGGGTCTTACCAGGATGTGCTTCCAGCCCTATACATATAGCCAGCTGCAGCAGATCCTAAGGTCCCGGC
TCAAGCATCTAAAGGCCTTTGAAGATGATGCCATCCAGCTGGTAGCCAGGAAGGTAGCAGCACTGTCTGGAGATGCACGACGGTGCCTGGACATCTGCAG
GCGTGCCACAGAGATCTGTGAGTTCTCCCAGCAGAAGCCTGACTCMCCTGGCCTGGTCACCATAGCCCACTCAATGGAAGCTGTGGATGAGATGTTTTCA
TCATCATACATCACGGCCATCAAAAATTCCTCTGTTCTGGAACAGAGCTTCCTGAGAGCCATCCTCGCAGAGTTCCGTCGATCAGGACTGGAGGAAGCCA
CGTTTCAACAGATATATAGTCAACATGTGGCACTGTGCAGAATGGAGGGACTGCCGTACCCCACCAYGTCAGAGACCATGGCCGTGTGTTCTCACCTGGG
CTCCTGTCGCCTCCTGCTTGTGGAGCCCAGCAGGAACGATCTGCTCCTTCGGGTGCGGCTCAACGTCAGCCAGGATGATGTGCTGTATGCGCTGAAAGAC
GAGTAAAGGGGCTTCACAAGTTAAAAGACTGGGGTCTTGCTGGGTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAC
GATCATGGCTCACTGCAGCCTTGACTTCTCAGGCTTAGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCACRTGCCACCRTGCCCRG
CTGATTTTTTGTAGAGACAGGGCTTCACCRTGTTGCYAAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGTAACAAAGTATATTGA
ATGGAAATGGCTCTCATGTATTTTGGAATTTTCCATTAAATAATTTGCTTTTTCC

Protein Sequence    (SEQ ID NO:1239):
MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDDENPYVAKLLELFEDDSDPPPKKRARVQWFVRFCEVPACKR
HLLGRKPGAQEIFWYDYPACDSNINAETIIGLVRVIPLAPKDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQESAAKCQKPVRAKSKSAESP
SWTPAEHVAKRIESRHSASKSRQTPTHPLTPRARKRLELGNLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQPDKLQTLSPALKAPEKTRETG
LSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPSVILKPENIKKRDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGN
SKSDQEEKEILPAAEISDSSSDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLAAQEPASVLEEARLRLHVSAV
PESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGKTATVHEVIRCLQQAAQANDVPPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAEL
LAKQFCTRGSPQETTVLLVDELDLLWTHKQDIMYNLFDWPTHKEARLVVLAIANTMDLPERIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAF
EDDAIQLVARKVAALSGDARRCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNSSVLEQSFLRAILAEFRRSGLEEATFQQIYS
QHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRNDLLLRVRLNVSQDDVLYALKDE


SNP Information

Context             (SEQ ID NO:9658):
GGAGGGCTTGCGGCTAGCCGGAGGAAGCTTTGGAGCCGGAAGCCATGGCACACTACCCCACAAGGCTGAAGACCAGAAAAACTTATTCATGGGTTGGCAG
S
CCCTTGTTGGATCGAAAACTGCACTACCAAACCTATAGAGAAATGTGTGTGAAAACAGAAGGTTGTTCCACCGAGATTCACATCCAGATTGGACAGTTTG
Celera SNP ID:            hCV15793826
SNP Position Transcript:  277
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 19, (S,AGC)   (R,AGG)      



Context             (SEQ ID NO:9659):
ACATCTCCGGTGTCCCTGGGACAGGGAAGACTGCCACTGTTCATGAAGTGATACGCTGCCTGCAGCAGGCAGCCCAAGCCAATGATGTTCCTCCCTTTCA
R
TACATTGAGGTCAATGGCATGAAGCTGACGGAGCCCCACCAAGTCTATGTGCAAATCTTGCAGAAGCTAACAGGCCAAAAAGCAACAGCCAACCATGCGG
Celera SNP ID:            hCV15793851
SNP Position Transcript:  1912
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1239, 564, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:9660):
ATCTGAAAAATGAGAAGACACTCTTTGTGAAACTATCCTGGAATGAGAAGAAATTCAGGCCACTTTCCTCAGAACTATTTGCGGAGTTGAATAAACCACA
M
GAGAGTGCAGCCAAGTGCCAGAAACCCGTGAGAGCCAAGAGTAAGAGTGCAGAGAGCCCTTCTTGGACCCCAGCAGAACATGTGGCCAAAAGGATTGAAT
Celera SNP ID:            hCV15793862
SNP Position Transcript:  760
SNP Source:               Applera
Population(Allele,Count): african american(A,26|C,2)   caucasian(A,4)   total(A,30|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 180, (Q,CAA)   (H,CAC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 180, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:9661):
AAAGAGATTCTGCCAGCAGCAGAGATTTCAGACTCTAGCAGTGACGAAGAAGAGGCTTCCACACCGCCCCTTCCAAGGAGAGCACCCAGAACTGTGTCCA
K
GAACCTGCGATCTTCCTTGAAGTCATCCTTACATACCCTCACGAAGGTGCCAAAGAAGAGTCTCAAGCCTAGAACGCCACGTTGTGCCGCTCCTCAGATC
Celera SNP ID:            hCV26412922
SNP Position Transcript:  1542
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 441, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:9662):
CGAAGAAGAGGCTTCCACACCGCCCCTTCCAAGGAGAGCACCCAGAACTGTGTCCAGGAACCTGCGATCTTCCTTGAAGTCATCCTTACATACCCTCACG
R
AGGTGCCAAAGAAGAGTCTCAAGCCTAGAACGCCACGTTGTGCCGCTCCTCAGATCCGTAGTCGAAGCCTGGCTGCCCAGGAGCCAGCCAGTGTGCTGGA
Celera SNP ID:            hCV26412923
SNP Position Transcript:  1586
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 456, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:9663):
CCAGGAAGGTAGCAGCACTGTCTGGAGATGCACGACGGTGCCTGGACATCTGCAGGCGTGCCACAGAGATCTGTGAGTTCTCCCAGCAGAAGCCTGACTC
M
CCTGGCCTGGTCACCATAGCCCACTCAATGGAAGCTGTGGATGAGATGTTTTCATCATCATACATCACGGCCATCAAAAATTCCTCTGTTCTGGAACAGA
Celera SNP ID:            hCV25614442
SNP Position Transcript:  2446
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,1|C,39)   total(A,1|C,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1239, 742, (S,TCA)   (S,TCC)   



Context             (SEQ ID NO:9664):
AGGAGAGCACCCAGAACTGTGTCCAGGAACCTGCGATCTTCCTTGAAGTCATCCTTACATACCCTCACGAAGGTGCCAAAGAAGAGTCTCAAGCCTAGAA
Y
GCCACGTTGTGCCGCTCCTCAGATCCGTAGTCGAAGCCTGGCTGCCCAGGAGCCAGCCAGTGTGCTGGAGGAAGCCCGACTGAGGCTGCATGTTTCTGCT
Celera SNP ID:            hCV26412924
SNP Position Transcript:  1617
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 466, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9665):
GGGTGCATGTACATCTCCGGTGTCCCTGGGACAGGGAAGACTGCCACTGTTCATGAAGTGATACGCTGCCTGCAGCAGGCAGCCCAAGCCAATGATGTTC
S
TCCCTTTCAATACATTGAGGTCAATGGCATGAAGCTGACGGAGCCCCACCAAGTCTATGTGCAAATCTTGCAGAAGCTAACAGGCCAAAAAGCAACAGCC
Celera SNP ID:            hCV25614434
SNP Position Transcript:  1902
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,2)   total(C,31|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 561, (P,CCT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 561, (P,CCT)   (R,CGT)   



Context             (SEQ ID NO:9666):
CCCAGAACTGTGTCCAGGAACCTGCGATCTTCCTTGAAGTCATCCTTACATACCCTCACGAAGGTGCCAAAGAAGAGTCTCAAGCCTAGAACGCCACGTT
R
TGCCGCTCCTCAGATCCGTAGTCGAAGCCTGGCTGCCCAGGAGCCAGCCAGTGTGCTGGAGGAAGCCCGACTGAGGCTGCATGTTTCTGCTGTACCTGAG
Celera SNP ID:            hCV26412925
SNP Position Transcript:  1626
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 469, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:9667):
GCAGAGTTCCGTCGATCAGGACTGGAGGAAGCCACGTTTCAACAGATATATAGTCAACATGTGGCACTGTGCAGAATGGAGGGACTGCCGTACCCCACCA
Y
GTCAGAGACCATGGCCGTGTGTTCTCACCTGGGCTCCTGTCGCCTCCTGCTTGTGGAGCCCAGCAGGAACGATCTGCTCCTTCGGGTGCGGCTCAACGTC
Celera SNP ID:            hCV25614454
SNP Position Transcript:  2667
SNP Source:               Applera
Population(Allele,Count): african american(T,10)   caucasian(C,2|T,28)   total(C,2|T,38)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 816, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:9668):
ACGATCATGGCTCACTGCAGCCTTGACTTCTCAGGCTTAGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCACATGCCACCATGCCC
R
GCTGATTTTTTGTAGAGACAGGGCTTCACCATGTTGCCAAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGTAACAAAGTATATTG
Celera SNP ID:            hCV25614455
SNP Position Transcript:  2999
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,32|G,2)   total(A,69|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None



Context             (SEQ ID NO:9669):
AGTGGCACGATCATGGCTCACTGCAGCCTTGACTTCTCAGGCTTAGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCACATGCCACC
R
TGCCCAGCTGATTTTTTGTAGAGACAGGGCTTCACCATGTTGCCAAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGTAACAAAGT
Celera SNP ID:            hCV25614456
SNP Position Transcript:  2993
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,34|G,2)   total(A,71|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None



Context             (SEQ ID NO:9670):
GAAACTATCCTGGAATGAGAAGAAATTCAGGCCACTTTCCTCAGAACTATTTGCGGAGTTGAATAAACCACAAGAGAGTGCAGCCAAGTGCCAGAAACCC
R
TGAGAGCCAAGAGTAAGAGTGCAGAGAGCCCTTCTTGGACCCCAGCAGAACATGTGGCCAAAAGGATTGAATCAAGGCACTCCGCCTCCAAATCTCGCCA
Celera SNP ID:            hCV25614555
SNP Position Transcript:  788
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,27)   caucasian(G,4)   total(A,1|G,31)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 190, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 190, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9671):
TGGAGTGCAGTGGCACGATCATGGCTCACTGCAGCCTTGACTTCTCAGGCTTAGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCAC
R
TGCCACCATGCCCAGCTGATTTTTTGTAGAGACAGGGCTTCACCATGTTGCCAAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGT
Celera SNP ID:            hCV25614466
SNP Position Transcript:  2985
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,35|G,1)   total(A,72|G,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None



Context             (SEQ ID NO:9672):
AGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCACATGCCACCATGCCCAGCTGATTTTTTGTAGAGACAGGGCTTCACCATGTTGC
Y
AAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGTAACAAAGTATATTGAATGGAAATGGCTCTCATGTATTTTGGAATTTTCCATT
Celera SNP ID:            hCV25614467
SNP Position Transcript:  3037
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,2)   caucasian(C,2)   total(C,18|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None

SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,35|T,1)   total(C,65|T,5)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None   



Context             (SEQ ID NO:9673):
ATCAGTGGGGGACAGAGATCTTCAGTGGTGCCATCCGTGATTCTGAAACCAGAAAACATCAAAAAGAGGGATGCAAAAGAAGCAAAAGCCCAGAATGAAG
Y
GACCTCTACTCCCCATCGTATCCGCAGAAAGAGTTCTGTCTTGACTATGAATCGGATTAGGCAGCAGCTTCGGTTTCTAGGTAATAGTAAAAGTGACCAA
Celera SNP ID:            hCV15793814
SNP Position Transcript:  1335
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,37|T,1)   total(C,66|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 372, (A,GCG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,4)   total(C,31|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 372, (A,GCG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1239, 372, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:9674):
CAGGCTTAGGTGACCCCCCAACCTCATCCTCCCAGGTGGCTGAAACTACAGGCACATGCCACCATGCCCAGCTGATTTTTTGTAGAGACAGGGCTTCACC
R
TGTTGCCAAGCTAGTCTACAAAGCATCTGATTTTGGAAGTACATGGAATTGTTGTAACAAAGTATATTGAATGGAAATGGCTCTCATGTATTTTGGAATT
Celera SNP ID:            hCV25614468
SNP Position Transcript:  3030
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,35|G,1)   total(A,71|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1239, None



Gene Number:                 212
Celera Gene:                 hCG33054 - 84000314084470
Celera Transcript:           hCT24247 - 84000314084471
Public Transcript Accession: 
Celera Protein:              hCP46398 - 197000064951589
Public Protein Accession:    
Gene Symbol:                 MGC61716
Protein Name:                hypothetical protein MGC61716
Celera Genomic Axis:         GA_x5YUV32VWPT(46611760..46625965)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:543):
ACCGYTGCTTCCGGCGCCGTAWCTGCTGCCATCTTCTCCGCGCTATGGCTGCGTTCGGCCGTCAGGTCCTTGATTGGCACCGCCTGATCCCCCTCACCTG
GGCCTGTATGGCTAGGCAGACTCCTCATCTTGGAGAACAGAGAAGGACGACAGCTTCTTTGTTGCGCAAACTGACTRCAGCCTCCAATGGAGGGGTCATT
GAGGAGTTATCTTGTGTTAGATCCAATAACTATGTGCAGGAACCAGAGTGCAGGAGGAATCTTGTTCAGTGCCTCCTTGAGAAGCAGGGGACTCCTGTGG
TACAAGGGTCCTTGGAGCTAGAGAGGGTCATGAGTTCCCTCCTGGACATGGGTTTCAGCAATGCCCATATTAATGAATTGCTCAGTGTAYGGCGAGGTGC
CAGTCTTCAACAGTTGCTGGACATCATTTCAGAATTTATTCTCTTGGGTCTGAATCCAGAGCCTGTGTGTGTGGTCTTGAAGAAAAGTCCCCAGTTATTG
AAACTGCCTATTATGCAAATGAGGAAGCGCTCCAGTTACCTGCAAAAGCTTGGGCTTGGAGAAGGGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAA
TTTTCACCAYGCGCCAGCAGGACATTAACGACACTGTYAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTG
CCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAATACAAGTTTCAGTATGCATACTTCAGGATGGGAATTAAGCATCCAGACATTGTAAAGACAGCC
TCGTCTTACAGCGTGACTGCAAAGAAAAAGACTTTTGTTTTGCAAAAGAAAAGCAGCTCGGTGACTCCGTCCWCATCGCCACAGTTGAGTCAGATGGCAG
TGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGCRGGAGGACTAATTTATTATTGTGCAACTGCCAGTCCTGCGCATTCCAGCTACGC
TAAGCGCCCTGCCCAGGCACGTAACAAAACATAGRCCTGTTTTGAAGTGGCTTGTYACCCAAGGGTGCCTCACTCATCTGCGCCACCAGGAAGATGAACT
GTGAGGGCTCCTATAAGGGGCAGGAAGAGCAAAGCTGTCCTAGGCCAACCAGAGATTCATCTTTCATGCAGTGACATGTTGATAAAAAATGATGGTCAGT
ATGAAACTGGTAACAGGTTGTAGATGGCTTTCTATGGTATATCCCAGTCTCTTGCAAACGATTGTGAAGAATGCCAGTGTTGTTTAAGATTCGGCAGTTT
GTGTGGGGAGGTGGGGGCAGGATGGGGTTTGGTTGCCAAAAGAGTTTGGGAAATGCTGGCTTAAACAAAGGCGAGAGGAAGTTCCTTTCACGTCAGGATT
TATGAATGCCTATGAGCCCAGTGTCAGTGACGACTTTCTAGCGGCGGTCTTCAACACTTTCTAAATATTAAGCGATCAAGGCCCCTGCCCCACTTTTAGT
TCCAACAGAATGCCGTTCACAAGATCTGGGAGGCACTCTCTCAGCCCTCTCCTGGAGCCCCCGGAATTTCTCAGCAGCCCAGGCCCTCCCGCTGCCCGTG
GCCCCTCCTCCCAGGTGCCAGGTGGTCTTCCAGCCTCTCCAAGGGCCCACCCCCCTGCCTCTTCCTCCCACTGCAGCTGATCTAGGGGTTTCTTGGCCAC
ATTTCCCTTGAGAGAGAGTGGGATTTGCCCTATCCACAGAGAGCCTCATTTCCACCTGAAGGTGTATTTGTCAGTGGCTAGACCAGGTTCATGTCTGTTT
CCCCTTGGGGACTTCTGAACCTTCCTGCCCGGGAGTCTGTAACACAGCAGCACAGGACCGCGCTTCCTTTWGCAGTGCTGAGTAAGCAGGCAGCGGCACT
CTGAGATCCCGGGGCTGGGCAGTCGCCCCCCACTTCCCAGCAGCTCTGTGGTAGTGGGGCGGGAGCAGCAGGGACGTACCTTAAGATTTCTCCAGTGTCT
GACTCTTACTTTGTTTCCTGAAATAATTAGAGAAAAGTCGTTTAATGAAAAAGAGACTGTGTACCTTGAATTCTACAGCTACCTCAGTCCAGGCTGCCTG
CTGAGATCCTGTCTTTAGCTCACATACATTCCACGGTGGGGGACACCATTAGTCCAGACACCGCTGTGGAGATTAGCATTTTAGTTTGTGTGCGCCCGCC
TGGCTTGAGGCAGTAGTTTAGGAATGACAAGGCTAGAAACCTGGCTGGCTGTGAGTCAGAGAGAGAGA

Protein Sequence    (SEQ ID NO:1240):
MAAFGRQVLDWHRLIPLTWACMARQTPHLGEQRRTTASLLRKLTTASNGGVIEELSCVRSNNYVQEPECRRNLVQCLLEKQGTPVVQGSLELERVMSSLL
DMGFSNAHINELLSVRRGASLQQLLDIISEFILLGLNPEPVCVVLKKSPQLLKLPIMQMRKRSSYLQKLGLGEGKLKRVLYCCPEIFTMRQQDINDTVRL
LKEKCLFTVQQVTKILHSCPSVLREDLGQLEYKFQYAYFRMGIKHPDIVKTASSYSVTAKKKTFVLQKKSSSVTPSTSPQLSQMAVAVLCQWKEFLLRGG
AGGLIYYCATASPAHSSYAKRPAQARNKT


SNP Information

Context             (SEQ ID NO:9675):
GCACCGCCTGATCCCCCTCACCTGGGCCTGTATGGCTAGGCAGACTCCTCATCTTGGAGAACAGAGAAGGACGACAGCTTCTTTGTTGCGCAAACTGACT
R
CAGCCTCCAATGGAGGGGTCATTGAGGAGTTATCTTGTGTTAGATCCAATAACTATGTGCAGGAACCAGAGTGCAGGAGGAATCTTGTTCAGTGCCTCCT
Celera SNP ID:            hCV25758097
SNP Position Transcript:  177
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,36|G,2)   total(A,69|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 45, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,172|A,1317)   total(G,172|A,1317) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 45, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:9676):
ACCTGCAAAAGCTTGGGCTTGGAGAAGGGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCATGCGCCAGCAGGACATTAACGACACTGT
Y
AGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTTCTTCGAGAGGACCTGGGTCAACTGGAAT
Celera SNP ID:            hCV25954660
SNP Position Transcript:  638
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,2)   total(C,29|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1240, 198, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:9677):
ACCG
Y
TGCTTCCGGCGCCGTAACTGCTGCCATCTTCTCCGCGCTATGGCTGCGTTCGGCCGTCAGGTCCTTGATTGGCACCGCCTGATCCCCCTCACCTGGGCCT
Celera SNP ID:            hCV16179388
SNP Position Transcript:  5
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,33|T,1)   total(C,66|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1240, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,367|C,1102)   total(C,1102|T,367) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1240, None   



Context             (SEQ ID NO:9678):
AGAAAAGCAGCTCGGTGACTCCGTCCACATCGCCACAGTTGAGTCAGATGGCAGTGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGC
R
GGAGGACTAATTTATTATTGTGCAACTGCCAGTCCTGCGCATTCCAGCTACGCTAAGCGCCCTGCCCAGGCACGTAACAAAACATAGACCTGTTTTGAAG
Celera SNP ID:            hCV25954225
SNP Position Transcript:  947
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,9)   caucasian(A,2)   total(A,21|G,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1240, 301, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:9679):
ATTATGCAAATGAGGAAGCGCTCCAGTTACCTGCAAAAGCTTGGGCTTGGAGAAGGGAAATTAAAGAGGGTGCTTTACTGTTGCCCTGAAATTTTCACCA
Y
GCGCCAGCAGGACATTAACGACACTGTCAGGCTTCTCAAGGAGAAGTGCCTTTTCACGGTACAGCAAGTCACCAAGATTTTGCACAGTTGCCCCTCTGTT
Celera SNP ID:            hCV16179389
SNP Position Transcript:  610
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,25)   caucasian(T,2)   total(C,3|T,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 189, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,379|T,1100)   total(C,379|T,1100) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 189, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9680):
AAGGGGAGGTGCAGGAGGACTAATTTATTATTGTGCAACTGCCAGTCCTGCGCATTCCAGCTACGCTAAGCGCCCTGCCCAGGCACGTAACAAAACATAG
R
CCTGTTTTGAAGTGGCTTGTTACCCAAGGGTGCCTCACTCATCTGCGCCACCAGGAAGATGAACTGTGAGGGCTCCTATAAGGGGCAGGAAGAGCAAAGC
Celera SNP ID:            hCV16179343
SNP Position Transcript:  1035
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1240, None   



Context             (SEQ ID NO:9681):
ACCGCTGCTTCCGGCGCCGTA
W
CTGCTGCCATCTTCTCCGCGCTATGGCTGCGTTCGGCCGTCAGGTCCTTGATTGGCACCGCCTGATCCCCCTCACCTGGGCCTGTATGGCTAGGCAGACT
Celera SNP ID:            hCV25753082
SNP Position Transcript:  22
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,34)   total(A,69|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1240, None



Context             (SEQ ID NO:9682):
GACTCCTGTGGTACAAGGGTCCTTGGAGCTAGAGAGGGTCATGAGTTCCCTCCTGGACATGGGTTTCAGCAATGCCCATATTAATGAATTGCTCAGTGTA
Y
GGCGAGGTGCCAGTCTTCAACAGTTGCTGGACATCATTTCAGAATTTATTCTCTTGGGTCTGAATCCAGAGCCTGTGTGTGTGGTCTTGAAGAAAAGTCC
Celera SNP ID:            hCV25759641
SNP Position Transcript:  390
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 116, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:9683):
TCAGTGGCTAGACCAGGTTCATGTCTGTTTCCCCTTGGGGACTTCTGAACCTTCCTGCCCGGGAGTCTGTAACACAGCAGCACAGGACCGCGCTTCCTTT
W
GCAGTGCTGAGTAAGCAGGCAGCGGCACTCTGAGATCCCGGGGCTGGGCAGTCGCCCCCCACTTCCCAGCAGCTCTGTGGTAGTGGGGCGGGAGCAGCAG
Celera SNP ID:            hCV15860911
SNP Position Transcript:  1871
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1240, None   



Context             (SEQ ID NO:9684):
TAAGCATCCAGACATTGTAAAGACAGCCTCGTCTTACAGCGTGACTGCAAAGAAAAAGACTTTTGTTTTGCAAAAGAAAAGCAGCTCGGTGACTCCGTCC
W
CATCGCCACAGTTGAGTCAGATGGCAGTGGCAGTCCTTTGCCAGTGGAAGGAGTTCCTGCTAAGGGGAGGTGCAGGAGGACTAATTTATTATTGTGCAAC
Celera SNP ID:            hCV15757091
SNP Position Transcript:  873
SNP Source:               Applera
Population(Allele,Count): african american(A,26|T,4)   caucasian(A,1|T,1)   total(A,27|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 277, (T,ACA)   (S,TCA)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,141|A,1350)   total(A,1350|T,141) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1240, 277, (T,ACA)   (S,TCA)      



Context             (SEQ ID NO:9685):
AATTTATTATTGTGCAACTGCCAGTCCTGCGCATTCCAGCTACGCTAAGCGCCCTGCCCAGGCACGTAACAAAACATAGACCTGTTTTGAAGTGGCTTGT
Y
ACCCAAGGGTGCCTCACTCATCTGCGCCACCAGGAAGATGAACTGTGAGGGCTCCTATAAGGGGCAGGAAGAGCAAAGCTGTCCTAGGCCAACCAGAGAT
Celera SNP ID:            hCV9651994
SNP Position Transcript:  1056
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1240, None   



Gene Number:                 213
Celera Gene:                 hCG33411 - 146000220004976
Celera Transcript:           hCT2305249 - 146000220005087
Public Transcript Accession: NM_002851
Celera Protein:              hCP1904877 - 197000069468141
Public Protein Accession:    NP_002842
Gene Symbol:                 PTPRZ1
Protein Name:                protein tyrosine phosphatase, receptor-type, Z polypeptide 1;HPTPZ;PTP18;PTPRZ;PTPZ;RPTPB
Celera Genomic Axis:         GA_x5YUV32W188(19081160..19270067)
Chromosome:                  Chr7
OMIM number:                 176891
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1;PTPRZ1


Transcript Sequence (SEQ ID NO:544):
GCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAG
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCSAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTSTCTCTCTCTCTCTC
WCACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCYT
TCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAAKCCTAAAGCKTTTCCTCGCTTGC
ATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCCTATACAGGAGCAC
TGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGATGAAGATCTTACACAAGTAAATGTGAATCT
TAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAAACAGTGGAAATTAATCTCACTAATGACTAC
CGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTT
TAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGCRGACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAG
AGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCAAAGCGATTATTGATGGAGTCGAAAGTGTTAGTCGTTTTGGGAAGCAGGCT
GCTTTAGATCCATTCATACTGTTGAACCTTCTGCCAAACTCAACTGACAAGTATTACATTTACAATGGCTCATTGACATCTCCTCCCTGCACAGACACAG
TTGACTGGATTGTTTTTAAAGATACAGTTAGCATCTCTGAAAGCCAGTTGGCTGTTTTTTGTGAAGTTCTTACAATGCAACAATCTGGTTATGTCATGCT
GATGGACTACTTACAAAACAATTTTCGAGAGCAACAGTACAAGTTCTCTAGACAGGTGTTTTCCTCATACACTGGAAAGGAAGAGATTCATGAAGCAGTT
TGTAGTTCAGAACCAGAAAATGTTCAGGCTGACCCAGAGAATTATACCAGCCTTCTTGTTACATGGGAAAGACCTCGAGTCGTTTATGATACCATGATTG
AGAAGTTTGCAGTTTTGTACCAGCAGTTGGATGGAGAGGACCAAACCAAGCATGAATTTTTGACAGATGGCTATCAAGACTTGGGTGCTATTCTCAATAA
TTTGCTACCCAATATGAGTTATGTTCTTCAGATAGTAGCCATATGCACTAATGGCTTATATGGAAAATACAGCGACCAACTGATTGTCGACATGCCTACT
GATAATCCTGAACTTGATCTTTTCCCTGAATTAATTGGAACTGAAGAAATAATCAAGGAGGAGGAAGAGGGAAAAGACATTGAAGAAGGCGCTATTGTGA
ATCCTGGTAGAGACAGTGCTACAAACCAAATCAGGAAAAAGGAACCCCAGATTTCTACCACAACACACTACAATCGCATAGGGACGAAATACAATGAAGC
CAAGACTAACCGATCCCCAACAAGAGGAAGTGAATTCTCTGGAAAGGGTGATGTTCCCAATACATCTTTAAATTCCACTTCCCAACCAGTCACTAAATTA
GCCACAGAAAAAGATATTTCCTTGACTTCTCAGACTGTGACTGAACTGCCACCTCACACTGTGGAAGGTACTTCAGCCTCTTTAAATGATGGCTCTAAAA
CTGTTCTTAGATCTCCACATATGAACTTGTCGGGGACTGCAGAATCCTTAAATACAGTTTCTATAACAGAATATGAGGAGGAGAGTTTATTGACCAGTTT
CAAGCTTGATACTGGAGCTGAAGATTCTTCAGGCTCCAGTCCCGCAACTTCTGCTATCCCATTCATCTCTGAGAACATATCCCAAGGGTATATATTTTCC
TCCGAAAACCCAGAGACAATAACATATGATGTCCTTATACCAGAATCTGCTAGAAATGCTTCCGAAGATTCAACTTCATCAGGTTCAGAAGAATCACTAA
AGGATCCTTCTATGGAGGGAAATGTGTGGTTTCCTAGCTCTACAGACATAACAGCACAGCCCGATGTTGGATCAGGCAGAGAGAGCTTTCTCCAGACTAA
TTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGAYCTGGAAATG
CCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGGTCAACGTGG
TATACTCGCAGACAACCCAACCGGTATACAATGGTGAGACACCTCTTCAACCTTCCTACAGTAGTGAAGTCTTTCCTCTAGTCACCCCTTTGTTGCTTGA
CAATCAGATCCTCAACACTACCCCTGCTGCTTCAAGTAGTGATTCGGCCTTGCATGCTACGCCTGTATTTCCCAGTGTCGATGTGTCATTTGAATCCATC
CTGTCTTCCTATGATGGTGCACCTTTGCTTCCATTTTCCTCTGCTTCCTTCAGTAGTGAATTGTTTCGCCATCTGCATACAGTTTCTCAAATCCTTCCAC
AAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGSCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTC
TGATGWGCTGWCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCA
CCCAGCAGTGATGCCATGATGCATGCACGTTCTTCAGGGCCTGAACCTTCTTATGCCTTGTCTGATAATGAGGGCTCCCAACACATCTTCACTGTTTCTT
ACAGTTCTGCAATACCTGTGCATGATTCTGTGGGTGTAACTTATCAGGGTTCCTTATTTAGCGGCCCTAGCCATATACCAATACCTAAGTCTTCGTTAAT
AACCCCAACTGCATCATTACTGCAGCCTACTCATGCCCTCTCTGGTGATGGGGAATGGTCTGGAGCCTCTTCTGATAGTGAATTTCTTTTACCTGACACA
GATGGGCTGACAGCCCTTAACATTTCTTCACCTGTTTCTGTAGCTGAATTTACATATACAACATCTGTGTTTGGTGATGATAATAAGGCGCTTTCTAAAA
GTGAAATAATATATGGAAATGAGACTGAACTGCAAATTCCTTCTTTCAATGAGATGGTTTACCCTTCTGAAAGCACAGTCATGCCCAACATGTATGATAA
TGTAAATAAGTTGAATGCGTCTTTACAAGAAACCTCTGTTTCCATTTCTAGCACCAAGGGCATGTTTCCAGGGTCCCTTGCTCATACCACCACTAAGGTT
TTTGATCATGAGATTAGTCAAGTTCCAGAAAATAACTTTTCAGTTCAACCTACACATACTGTCTCTCAAGCATCTGGTGACACTTCGCTTAAACCTGTGC
TTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCARCTCTTATTTTATGAGACCTCAGCTTCTTTTAG
TACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTCCAGCTGTGCCCAGTGATCCAATATTGGTTGAA
ACCCCCAAAGTTGATAAAATTAGTTCTACAATGTTGCATCTCATTGTATCAAATTCTGCTTCAAGTGAAAACATGCTGCACTCTACATCTGTACCAGTTT
TTGATGTGTCGCCTACTTCTCATATGCACTCTGCTTCACTTCAAGGTTTGACCATTTCCTATGCAAGTGAGAAATATGAACCAGTTTTGTTAAAAAGTGA
AAGTTCCCACCAAGTGGTACCTTCTTTGTACAGTAATGATGAGTTGTTCCAAACGGCCAATTTGGAGATTAACCAGGCCCATCCCCCAAAAGGAAGGCAT
GTATTTGCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTG
TTACTGRTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACRTTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCRTTAC
AGCTGTTTCTCCCCACAGARATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCC
GGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGRDGATGATGATGATGACAGAGRTAGTGATGGCTTATCCATTCATAAGTGTATGTCAT
GCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTTATGGATCAGAATAATCCAATCTCATACTCACTATC
TGAGAATTCTGAAGAAGATAATAGAGTCACAAGTGTATCCTCAGACAGTCAAACTGGTATGGACAGAAGTCCTGGTAAATCACCATCAGCAAATGGGCTA
TCCCAAAAGCACAATGATGGAAAAGAGGAAAATGACATTCAGACTGGTAGTGCTCTGCTTCCTCTCAGCCCTGAATCTAAAGCATGGGCAGTTCTGACAA
GTGATGAAGAAAGTGGATCAGGGCAAGGTACCTCAGATAGCCTTAATGAGAATGAGACTTCCACAGATTTCAGTTTTGCAGACACTAATGAAAAAGATGC
TGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTTACTAGCGAGAACKCAGAAGTGTTCCACGTT
TCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTATACCCCTTGTGATCGTGT
CAGCCCTGACTTTTATCTGTCTAGTGGTTCTTGTGGGTATTCTCATCTACTGGAGGAAATGCTTCCAGACTGCACACTTTTACTTAGAGGACAGTACATC
CCCTAGAGTTATATCCACACCTCCAACACCTATCTTTCCAATTTCAGATGATGTCGGAGCAATTCCAATAAAGCACTTTCCAAAGCATGTTGCAGATTTA
CATGCAAGTAGTGGGTTTACTGAAGAATTTGAGACACTGAAAGAGTTTTACCAGGAAGTGCAGAGCTGTACTGTTGACTTAGGTATTACAGCAGACAGCT
CCAACCACCCAGACAACAAGCACAAGAATCGATACATAAATATCGTTGCCTATGATCATAGCAGGGTTAAGCTAGCACAGCTTGCTGAAAAGGATGGCAA
ACTGACTGATTATATCAATGCCAATTATGTTGATGGCTACAACAGACCAAAAGCTTATATTGCTGCCCAAGGCCCACTGAAATCCACAGCTGAAGATTTC
TGGAGAATGATATGGGAACATAATGTGGAAGTTATTGTCATGATAACAAACCTCGTGGAGAAAGGAAGGAGAAAATGTGATCAGTACTGGCCTGCCGATG
GGAGTGAGGAGTACGGGAACTTTCTGGTCACTCAGAAGAGTGTGCAAGTGCTTGCCTATTATACTGTGAGGAATTTTACTCTAAGAAACACAAAAATAAA
AAAGGGCTCCCAGAAAGGAAGACCCAGTGGACGTGTGGTCACACAGTATCACTACACGCAGTGGCCTGACATGGGAGTACCAGAGTACTCCCTGCCAGTG
CTGACCTTTGTGAGAAAGGCAGCCTATGCCAAGCGCCATGCAGTGGGGCCTGTTGTCGTCCACTGCAGTGCTGGAGTTGGAAGAACAGGCACATATATTG
TGCTAGACAGTATGTTGCAGCAGATTCAACACGAAGGAACTGTCAACATATTTGGCTTCTTAAAACACATCCGTTCACAAAGAAATTATTTGGTACAAAC
TGAGGAGCAATATTCCTCATTCCTGGACCAGCAGGCAAAACAAAGCTAGAGAAACAATTCCAGCTCCTGAGCCAGTCAAATATACAGCAGAGTGACTATT
CTGCAGCCCTAAAGCAATGCAACAGGGAAAAGAATCGAACTTCTTCTATCATCCCTGTGGAAAGATCAAGGGTTGGCATTTCATCCCTGAGTGGAGAAGG
CACAGACTACATCAATGCCTCCTATATCATGGGCTATTACCAGAGCAATGAATTCATCATTACCCAGCACCCTCTCCTTCATACCATCAAGGATTTCTGG
AGGATGATATGGGACCATAATGCCCAACTGGTGGTTATGATTCCTGATGGCCAAAACATGGCAGAAGATGAATTTGTTTACTGGCCAAATAAAGATGAGC
CTATAAATTGTGAGAGCTTTAAGGTCACTCTTATGGCTGAAGAACACAAATGTCTATCTAATGAGGAAAAACTTATAATTCAGGACTTTATCTTAGAAGC
TACACAGGATGATTATGTACTTGAAGTGAGGCACTTTCAGTGTCCTAAATGGCCAAATCCAGATAGCCCCATTAGTAAAACTTTTGAACTTATAAGTGTT
ATAAAAGAAGAAGCTGCCAATAGGGATGGGCCTATGATTGTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGC
ACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGGKAGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTT
TCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAGGAAGAGAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATA
GCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGGRACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTC
TAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCATGACATAGGATTCTGCCGCCAAATTTATATCATTAACAATGTGTGCCTTTTTGC
AAGACTTGTAATTTACTTATTATGTTTGAACTAAAATGATTGAATTTTACAGTATTTCTAAGAATGGAATTGTGGTATTTTTTTCTGTATTGATTTTAAC
AGAAAATTTCAATTTATAGAGGTTAGGAATTCCAAACTACAGAAAATGTTTGTTTTTAGTGTCAAATTTTTAGCTGTATTTGTAGCAATTATCAGGTTTG
CTAGAAATATAACTTTTAATACAGTAGCCTGTAAATAAAACACTCTTCCATATGATATTCAACATTTTACAACTGCAGTATTCACCTAAAGTAGAAATAA
TCTGTTACTTATTGTAAATACTGCCCTAGTGTCTCCATGGACCAAATTTATATTTATAATTGTAGATTTTTATATTTTACTACTGAGTCAAGTTTTCTAG
TTCTGTGTAATTGTTTAGTTTAATGACGTAGTTCATTAGCTGGTCTTACTCTACCAGTTTTCTGACATTGTATTGTGTTACCTAAGTCATTAACTTTGTT
TCAGCATGTAATTTTAACTTTTGTGGAAAATAGAAATACCTTCATTTTGAAAGAAGTTTTTATGAGAATAACACCTTACCAAACATTGTTCAAATGGTTT
TTATCCAAGGAATTGCAAAAATAAATATAAATATTGCCATTAATTTGT

Protein Sequence    (SEQ ID NO:1241):
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGK
TVEINLTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEMQIYCFDADRFSSFEEAVKGKGKLRALSILFEVGTEENLDFKAIIDGV
ESVSRFGKQAALDPFILLNLLPNSTDKYYIYNGSLTSPPCTDTVDWIVFKDTVSISESQLAVFCEVLTMQQSGYVMLMDYLQNNFREQQYKFSRQVFSSY
TGKEEIHEAVCSSEPENVQADPENYTSLLVTWERPRVVYDTMIEKFAVLYQQLDGEDQTKHEFLTDGYQDLGAILNNLLPNMSYVLQIVAICTNGLYGKY
SDQLIVDMPTDNPELDLFPELIGTEEIIKEEEEGKDIEEGAIVNPGRDSATNQIRKKEPQISTTTHYNRIGTKYNEAKTNRSPTRGSEFSGKGDVPNTSL
NSTSQPVTKLATEKDISLTSQTVTELPPHTVEGTSASLNDGSKTVLRSPHMNLSGTAESLNTVSITEYEEESLLTSFKLDTGAEDSSGSSPATSAIPFIS
ENISQGYIFSSENPETITYDVLIPESARNASEDSTSSGSEESLKDPSMEGNVWFPSSTDITAQPDVGSGRESFLQTNYTEIRVDESEKTTKSFSAGPVMS
QGPSVTDLEMPHYSTFAYFPTEVTPHAFTPSSRQQDLVSTVNVVYSQTTQPVYNGETPLQPSYSSEVFPLVTPLLLDNQILNTTPAASSSDSALHATPVF
PSVDVSFESILSSYDGAPLLPFSSASFSSELFRHLHTVSQILPQVTSATESDKVPLHASLPVAGGDLLLEPSLAQYSDVLSTTHAASETLEFGSESGVLY
KTLMFSQVEPPSSDAMMHARSSGPEPSYALSDNEGSQHIFTVSYSSAIPVHDSVGVTYQGSLFSGPSHIPIPKSSLITPTASLLQPTHALSGDGEWSGAS
SDSEFLLPDTDGLTALNISSPVSVAEFTYTTSVFGDDNKALSKSEIIYGNETELQIPSFNEMVYPSESTVMPNMYDNVNKLNASLQETSVSISSTKGMFP
GSLAHTTTKVFDHEISQVPENNFSVQPTHTVSQASGDTSLKPVLSANSEPASSDPASSEMLSPSTQLLFYETSASFSTEVLLQPSFQASDVDTLLKTVLP
AVPSDPILVETPKVDKISSTMLHLIVSNSASSENMLHSTSVPVFDVSPTSHMHSASLQGLTISYASEKYEPVLLKSESSHQVVPSLYSNDELFQTANLEI
NQAHPPKGRHVFATPVLSIDEPLNTLINKLIHSDEILTSTKSSVTGKVFAGIPTVASDTFVSTDHSVPIGNGHVAITAVSPHRDGSVTSTKLLFPSKATS
ELSHSAKSDAGLVGGGEDGDTDDDGDDDDDRDSDGLSIHKCMSCSSYRESQEKVMNDSDTHENSLMDQNNPISYSLSENSEEDNRVTSVSSDSQTGMDRS
PGKSPSANGLSQKHNDGKEENDIQTGSALLPLSPESKAWAVLTSDEESGSGQGTSDSLNENETSTDFSFADTNEKDADGILAAGDSEITPGFPQSPTSSV
TSENSEVFHVSEAEASNSSHESRIGLAEGLESEKKAVIPLVIVSALTFICLVVLVGILIYWRKCFQTAHFYLEDSTSPRVISTPPTPIFPISDDVGAIPI
KHFPKHVADLHASSGFTEEFETLKEFYQEVQSCTVDLGITADSSNHPDNKHKNRYINIVAYDHSRVKLAQLAEKDGKLTDYINANYVDGYNRPKAYIAAQ
GPLKSTAEDFWRMIWEHNVEVIVMITNLVEKGRRKCDQYWPADGSEEYGNFLVTQKSVQVLAYYTVRNFTLRNTKIKKGSQKGRPSGRVVTQYHYTQWPD
MGVPEYSLPVLTFVRKAAYAKRHAVGPVVVHCSAGVGRTGTYIVLDSMLQQIQHEGTVNIFGFLKHIRSQRNYLVQTEEQYSSFLDQQAKQS


SNP Information

Context             (SEQ ID NO:9686):
TCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTC
Y
TTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGCGTTTCCTCGCTTG
Celera SNP ID:            hCV11611432
SNP Position Transcript:  299
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1241, None   



Context             (SEQ ID NO:9687):
ACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTC
S
AGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGC
Celera SNP ID:            hCV25620967
SNP Position Transcript:  134
SNP Source:               Applera
Population(Allele,Count): african american(C,16|G,12)   caucasian(C,26)   total(C,42|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1241, None



Context             (SEQ ID NO:9688):
TGAATTGTTTCGCCATCTGCATACAGTTTCTCAAATCCTTCCACAAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTG
S
CTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATC
Celera SNP ID:            hCV8951402
SNP Position Transcript:  2957
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 863, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:9689):
ACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGGTGATGATGATGATGACAGAG
R
TAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTT
Celera SNP ID:            hCV8951403
SNP Position Transcript:  4665
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,15|G,17)   total(A,47|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1432, (D,GAT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,19|G,21)   total(A,52|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1432, (D,GAT)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1432, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:9690):
CTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGC
R
GACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCA
Celera SNP ID:            hCV386804
SNP Position Transcript:  850
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,19|G,21)   total(A,24|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 160, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,12)      total(G,12|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 160, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9691):
TGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGG
D
GATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAG
Celera SNP ID:            hCV26499604
SNP Position Transcript:  4645
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,3|T,3|-,5)   total(G,3|A,3|-,5|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 1425, (,GG-)   (G,GGA)   (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:9692):
TCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGA
Y
CTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGG
Celera SNP ID:            hCV25754343
SNP Position Transcript:  2491
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 707, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:9693):
AACAAACAAAAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAA
K
CCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATT
Celera SNP ID:            hCV8951165
SNP Position Transcript:  378
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(G,3|T,37)   total(G,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 3, (S,AGC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,13)      total(G,1|T,13) ;JBIG-allele(G,356|T,741)   total(T,741|G,356)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 3, (S,AGC)   (I,ATC)      3, (I,ATC)   (S,AGC)      



Context             (SEQ ID NO:9694):
AAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGC
K
TTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCC
Celera SNP ID:            hCV11435159
SNP Position Transcript:  387
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,40)   total(G,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 6, (R,CGT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,13)   total(G,13|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 6, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:9695):
ACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATG
W
GCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGC
Celera SNP ID:            hCV29144131
SNP Position Transcript:  3006
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 879, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:9696):
AGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTG
W
CCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGCAGTGA
Celera SNP ID:            hCV29144132
SNP Position Transcript:  3011
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 881, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:9697):
GAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGG
R
ACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCA
Celera SNP ID:            hCV8951456
SNP Position Transcript:  7246
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1241, None   



Context             (SEQ ID NO:9698):
GCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTG
R
TAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTT
Celera SNP ID:            hCV25620933
SNP Position Transcript:  4407
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1346, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9699):
AAGCATCTGGTGACACTTCGCTTAAACCTGTGCTTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCA
R
CTCTTATTTTATGAGACCTCAGCTTCTTTTAGTACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTC
Celera SNP ID:            hCV25620942
SNP Position Transcript:  3868
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 1166, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:9700):
CACTAATGAAAAAGATGCTGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTTACTAGCGAGAAC
K
CAGAAGTGTTCCACGTTTCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTAT
Celera SNP ID:            hCV25620926
SNP Position Transcript:  5183
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,36)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1605, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:9701):
GTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGG
K
AGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAG
Celera SNP ID:            hCV25620943
SNP Position Transcript:  7040
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,36)   total(G,1|T,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1241, None



Context             (SEQ ID NO:9702):
TTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCC
R
TTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGA
Celera SNP ID:            hCV25620935
SNP Position Transcript:  4496
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1376, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:9703):
TGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGA
R
ATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGA
Celera SNP ID:            hCV25620927
SNP Position Transcript:  4520
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,31)   total(A,2|G,62)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1384, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,2|G,32)   total(A,3|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1384, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:9704):
TAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATAC
R
TTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGC
Celera SNP ID:            hCV25620928
SNP Position Transcript:  4447
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1241, 1359, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9705):
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTC
W
CACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCCTT
Celera SNP ID:            hCV25620956
SNP Position Transcript:  201
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,24)   caucasian(A,36|T,4)   total(A,42|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1241, None



Context             (SEQ ID NO:9706):
TTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATG
R
TGATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCA
Celera SNP ID:            hCV25754669
SNP Position Transcript:  4644
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,12|G,20)   total(A,20|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1241, 1425, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9707):
ATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCT
S
TCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAA
Celera SNP ID:            hCV25620957
SNP Position Transcript:  186
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,8|G,6)   total(C,20|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1241, None



Gene Number:                 213
Celera Gene:                 hCG33411 - 146000220004976
Celera Transcript:           hCT2305248 - 146000220005011
Public Transcript Accession: NM_002851
Celera Protein:              hCP1904874 - 197000069468138
Public Protein Accession:    NP_002842
Gene Symbol:                 PTPRZ1
Protein Name:                protein tyrosine phosphatase, receptor-type, Z polypeptide 1;HPTPZ;PTP18;PTPRZ;PTPZ;RPTPB
Celera Genomic Axis:         GA_x5YUV32W188(19081030..19270067)
Chromosome:                  Chr7
OMIM number:                 176891
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1;PTPRZ1


Transcript Sequence (SEQ ID NO:545):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGGMGCCGCGG
CGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCC
CGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCSAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTC
TCTGTCTCTGTCTCTSTCTCTCTCTCTCTCWCACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGAT
TAAAACAAACAAACAAAAAAAACATTTCYTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAA
ATGCGAAKCCTAAAGCKTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTG
AAGAGATTGGCTGGTCCTATACAGGAGCACTGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGA
TGAAGATCTTACACAAGTAAATGTGAATCTTAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAA
ACAGTGGAAATTAATCTCACTAATGACTACCGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCA
ATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGCRGACCGATTTTCAAGTTTTGA
GGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCAAAGCGATTATTGATGGAGTC
GAAAGTGTTAGTCGTTTTGGGAAGCAGGCTGCTTTAGATCCATTCATACTGTTGAACCTTCTGCCAAACTCAACTGACAAGTATTACATTTACAATGGCT
CATTGACATCTCCTCCCTGCACAGACACAGTTGACTGGATTGTTTTTAAAGATACAGTTAGCATCTCTGAAAGCCAGTTGGCTGTTTTTTGTGAAGTTCT
TACAATGCAACAATCTGGTTATGTCATGCTGATGGACTACTTACAAAACAATTTTCGAGAGCAACAGTACAAGTTCTCTAGACAGGTGTTTTCCTCATAC
ACTGGAAAGGAAGAGATTCATGAAGCAGTTTGTAGTTCAGAACCAGAAAATGTTCAGGCTGACCCAGAGAATTATACCAGCCTTCTTGTTACATGGGAAA
GACCTCGAGTCGTTTATGATACCATGATTGAGAAGTTTGCAGTTTTGTACCAGCAGTTGGATGGAGAGGACCAAACCAAGCATGAATTTTTGACAGATGG
CTATCAAGACTTGGGTGCTATTCTCAATAATTTGCTACCCAATATGAGTTATGTTCTTCAGATAGTAGCCATATGCACTAATGGCTTATATGGAAAATAC
AGCGACCAACTGATTGTCGACATGCCTACTGATAATCCTGAACTTGATCTTTTCCCTGAATTAATTGGAACTGAAGAAATAATCAAGGAGGAGGAAGAGG
GAAAAGACATTGAAGAAGGCGCTATTGTGAATCCTGGTAGAGACAGTGCTACAAACCAAATCAGGAAAAAGGAACCCCAGATTTCTACCACAACACACTA
CAATCGCATAGGGACGAAATACAATGAAGCCAAGACTAACCGATCCCCAACAAGAGGAAGTGAATTCTCTGGAAAGGGTGATGTTCCCAATACATCTTTA
AATTCCACTTCCCAACCAGTCACTAAATTAGCCACAGAAAAAGATATTTCCTTGACTTCTCAGACTGTGACTGAACTGCCACCTCACACTGTGGAAGGTA
CTTCAGCCTCTTTAAATGATGGCTCTAAAACTGTTCTTAGATCTCCACATATGAACTTGTCGGGGACTGCAGAATCCTTAAATACAGTTTCTATAACAGA
ATATGAGGAGGAGAGTTTATTGACCAGTTTCAAGCTTGATACTGGAGCTGAAGATTCTTCAGGCTCCAGTCCCGCAACTTCTGCTATCCCATTCATCTCT
GAGAACATATCCCAAGGGTATATATTTTCCTCCGAAAACCCAGAGACAATAACATATGATGTCCTTATACCAGAATCTGCTAGAAATGCTTCCGAAGATT
CAACTTCATCAGGTTCAGAAGAATCACTAAAGGATCCTTCTATGGAGGGAAATGTGTGGTTTCCTAGCTCTACAGACATAACAGCACAGCCCGATGTTGG
ATCAGGCAGAGAGAGCTTTCTCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCA
CAGGGTCCCTCAGTTACAGAYCTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGAC
AACAGGATTTGGTCTCCACGGTCAACGTGGTATACTCGCAGACAACCCAACCGGTATACAATGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCT
AGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTATACCCCTTGTGATCGTGTCAGCCCTGACTTTTATCTGTCTAGTGGTTCTTGTGGGTATTCTCATC
TACTGGAGGAAATGCTTCCAGACTGCACACTTTTACTTAGAGGACAGTACATCCCCTAGAGTTATATCCACACCTCCAACACCTATCTTTCCAATTTCAG
ATGATGTCGGAGCAATTCCAATAAAGCACTTTCCAAAGCATGTTGCAGATTTACATGCAAGTAGTGGGTTTACTGAAGAATTTGAGACACTGAAAGAGTT
TTACCAGGAAGTGCAGAGCTGTACTGTTGACTTAGGTATTACAGCAGACAGCTCCAACCACCCAGACAACAAGCACAAGAATCGATACATAAATATCGTT
GCCTATGATCATAGCAGGGTTAAGCTAGCACAGCTTGCTGAAAAGGATGGCAAACTGACTGATTATATCAATGCCAATTATGTTGATGGCTACAACAGAC
CAAAAGCTTATATTGCTGCCCAAGGCCCACTGAAATCCACAGCTGAAGATTTCTGGAGAATGATATGGGAACATAATGTGGAAGTTATTGTCATGATAAC
AAACCTCGTGGAGAAAGGAAGGAGAAAATGTGATCAGTACTGGCCTGCCGATGGGAGTGAGGAGTACGGGAACTTTCTGGTCACTCAGAAGAGTGTGCAA
GTGCTTGCCTATTATACTGTGAGGAATTTTACTCTAAGAAACACAAAAATAAAAAAGGGCTCCCAGAAAGGAAGACCCAGTGGACGTGTGGTCACACAGT
ATCACTACACGCAGTGGCCTGACATGGGAGTACCAGAGTACTCCCTGCCAGTGCTGACCTTTGTGAGAAAGGCAGCCTATGCCAAGCGCCATGCAGTGGG
GCCTGTTGTCGTCCACTGCAGTGCTGGAGTTGGAAGAACAGGCACATATATTGTGCTAGACAGTATGTTGCAGCAGATTCAACACGAAGGAACTGTCAAC
ATATTTGGCTTCTTAAAACACATCCGTTCACAAAGAAATTATTTGGTACAAACTGAGGAGCAATATGTCTTCATTCATGATACACTGGTTGAGGCCATAC
TTAGTAAAGAAACTGAGGTGCTGGACAGTCATATTCATGCCTATGTTAATGCACTCCTCATTCCTGGACCAGCAGGCAAAACAAAGCTAGAGAAACAATT
CCAGCTCCTGAGCCAGTCAAATATACAGCAGAGTGACTATTCTGCAGCCCTAAAGCAATGCAACAGGGAAAAGAATCGAACTTCTTCTATCATCCCTGTG
GAAAGATCAAGGGTTGGCATTTCATCCCTGAGTGGAGAAGGCACAGACTACATCAATGCCTCCTATATCATGGGCTATTACCAGAGCAATGAATTCATCA
TTACCCAGCACCCTCTCCTTCATACCATCAAGGATTTCTGGAGGATGATATGGGACCATAATGCCCAACTGGTGGTTATGATTCCTGATGGCCAAAACAT
GGCAGAAGATGAATTTGTTTACTGGCCAAATAAAGATGAGCCTATAAATTGTGAGAGCTTTAAGGTCACTCTTATGGCTGAAGAACACAAATGTCTATCT
AATGAGGAAAAACTTATAATTCAGGACTTTATCTTAGAAGCTACACAGGATGATTATGTACTTGAAGTGAGGCACTTTCAGTGTCCTAAATGGCCAAATC
CAGATAGCCCCATTAGTAAAACTTTTGAACTTATAAGTGTTATAAAAGAAGAAGCTGCCAATAGGGATGGGCCTATGATTGTTCATGATGAGCATGGAGG
AGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGGKAGCCAAGATGATCAATCTG
ATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAGGAAGAGAATCCATCCACCT
CTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGGRACTCACATCTGAG
CATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCATGACATAGGATTC
TGCCGCCAAATTTATATCATTAACAATGTGTGCCTTTTTGCAAGACTTGTAATTTACTTATTATGTTTGAACTAAAATGATTGAATTTTACAGTATTTCT
AAGAATGGAATTGTGGTATTTTTTTCTGTATTGATTTTAACAGAAAATTTCAATTTATAGAGGTTAGGAATTCCAAACTACAGAAAATGTTTGTTTTTAG
TGTCAAATTTTTAGCTGTATTTGTAGCAATTATCAGGTTTGCTAGAAATATAACTTTTAATACAGTAGCCTGTAAATAAAACACTCTTCCATATGATATT
CAACATTTTACAACTGCAGTATTCACCTAAAGTAGAAATAATCTGTTACTTATTGTAAATACTGCCCTAGTGTCTCCATGGACCAAATTTATATTTATAA
TTGTAGATTTTTATATTTTACTACTGAGTCAAGTTTTCTAGTTCTGTGTAATTGTTTAGTTTAATGACGTAGTTCATTAGCTGGTCTTACTCTACCAGTT
TTCTGACATTGTATTGTGTTACCTAAGTCATTAACTTTGTTTCAGCATGTAATTTTAACTTTTGTGGAAAATAGAAATACCTTCATTTTGAAAGAAGTTT
TTATGAGAATAACACCTTACCAAACATTGTTCAAATGGTTTTTATCCAAGGAATTGCAAAAATAAATATAAATATTGCCATTAATTTGT

Protein Sequence    (SEQ ID NO:1242):
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGK
TVEINLTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEMQIYCFDADRFSSFEEAVKGKGKLRALSILFEVGTEENLDFKAIIDGV
ESVSRFGKQAALDPFILLNLLPNSTDKYYIYNGSLTSPPCTDTVDWIVFKDTVSISESQLAVFCEVLTMQQSGYVMLMDYLQNNFREQQYKFSRQVFSSY
TGKEEIHEAVCSSEPENVQADPENYTSLLVTWERPRVVYDTMIEKFAVLYQQLDGEDQTKHEFLTDGYQDLGAILNNLLPNMSYVLQIVAICTNGLYGKY
SDQLIVDMPTDNPELDLFPELIGTEEIIKEEEEGKDIEEGAIVNPGRDSATNQIRKKEPQISTTTHYNRIGTKYNEAKTNRSPTRGSEFSGKGDVPNTSL
NSTSQPVTKLATEKDISLTSQTVTELPPHTVEGTSASLNDGSKTVLRSPHMNLSGTAESLNTVSITEYEEESLLTSFKLDTGAEDSSGSSPATSAIPFIS
ENISQGYIFSSENPETITYDVLIPESARNASEDSTSSGSEESLKDPSMEGNVWFPSSTDITAQPDVGSGRESFLQTNYTEIRVDESEKTTKSFSAGPVMS
QGPSVTDLEMPHYSTFAYFPTEVTPHAFTPSSRQQDLVSTVNVVYSQTTQPVYNEASNSSHESRIGLAEGLESEKKAVIPLVIVSALTFICLVVLVGILI
YWRKCFQTAHFYLEDSTSPRVISTPPTPIFPISDDVGAIPIKHFPKHVADLHASSGFTEEFETLKEFYQEVQSCTVDLGITADSSNHPDNKHKNRYINIV
AYDHSRVKLAQLAEKDGKLTDYINANYVDGYNRPKAYIAAQGPLKSTAEDFWRMIWEHNVEVIVMITNLVEKGRRKCDQYWPADGSEEYGNFLVTQKSVQ
VLAYYTVRNFTLRNTKIKKGSQKGRPSGRVVTQYHYTQWPDMGVPEYSLPVLTFVRKAAYAKRHAVGPVVVHCSAGVGRTGTYIVLDSMLQQIQHEGTVN
IFGFLKHIRSQRNYLVQTEEQYVFIHDTLVEAILSKETEVLDSHIHAYVNALLIPGPAGKTKLEKQFQLLSQSNIQQSDYSAALKQCNREKNRTSSIIPV
ERSRVGISSLSGEGTDYINASYIMGYYQSNEFIITQHPLLHTIKDFWRMIWDHNAQLVVMIPDGQNMAEDEFVYWPNKDEPINCESFKVTLMAEEHKCLS
NEEKLIIQDFILEATQDDYVLEVRHFQCPKWPNPDSPISKTFELISVIKEEAANRDGPMIVHDEHGGVTAGTFCALTTLMHQLEKENSVDVYQVAKMINL
MRPGVFADIEQYQFLYKVILSLVSTRQEENPSTSLDSNGAALPDGNIAESLESLV


SNP Information

Context             (SEQ ID NO:9708):
AAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGC
K
TTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCC
Celera SNP ID:            hCV11435159
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,40)   total(G,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1242, 6, (R,CGT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,13)   total(G,13|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1242, 6, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:9709):
TCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTC
Y
TTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGCGTTTCCTCGCTTG
Celera SNP ID:            hCV11611432
SNP Position Transcript:  429
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1242, None   



Context             (SEQ ID NO:9710):
ACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTC
S
AGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGC
Celera SNP ID:            hCV25620967
SNP Position Transcript:  264
SNP Source:               Applera
Population(Allele,Count): african american(C,16|G,12)   caucasian(C,26)   total(C,42|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1242, None



Context             (SEQ ID NO:9711):
GAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGG
R
ACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCA
Celera SNP ID:            hCV8951456
SNP Position Transcript:  4887
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1242, None   



Context             (SEQ ID NO:9712):
GTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGG
K
AGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAG
Celera SNP ID:            hCV25620943
SNP Position Transcript:  4681
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,36)   total(G,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1242, 1394, (G,GGA)   (V,GTA)   



Context             (SEQ ID NO:9713):
CTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGC
R
GACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCA
Celera SNP ID:            hCV386804
SNP Position Transcript:  980
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,19|G,21)   total(A,24|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1242, 160, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,12)      total(G,12|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1242, 160, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9714):
TCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGA
Y
CTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGG
Celera SNP ID:            hCV25754343
SNP Position Transcript:  2621
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1242, 707, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:9715):
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTC
W
CACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCCTT
Celera SNP ID:            hCV25620956
SNP Position Transcript:  331
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,24)   caucasian(A,36|T,4)   total(A,42|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1242, None



Context             (SEQ ID NO:9716):
AACAAACAAAAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAA
K
CCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATT
Celera SNP ID:            hCV8951165
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(G,3|T,37)   total(G,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1242, 3, (S,AGC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,13)      total(G,1|T,13) ;JBIG-allele(G,356|T,741)   total(T,741|G,356)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1242, 3, (S,AGC)   (I,ATC)      3, (I,ATC)   (S,AGC)      



Context             (SEQ ID NO:9717):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGG
M
GCCGCGGCGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGC
Celera SNP ID:            hCV8556712
SNP Position Transcript:  93
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,8)      total(A,8|C,2) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1242, None   



Context             (SEQ ID NO:9718):
ATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCT
S
TCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAA
Celera SNP ID:            hCV25620957
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,8|G,6)   total(C,20|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1242, None



Gene Number:                 213
Celera Gene:                 hCG33411 - 146000220004976
Celera Transcript:           hCT24607 - 146000220004977
Public Transcript Accession: NM_002851
Celera Protein:              hCP46730 - 197000069468137
Public Protein Accession:    NP_002842
Gene Symbol:                 PTPRZ1
Protein Name:                protein tyrosine phosphatase, receptor-type, Z polypeptide 1;HPTPZ;PTP18;PTPRZ;PTPZ;RPTPB
Celera Genomic Axis:         GA_x5YUV32W188(19081030..19270067)
Chromosome:                  Chr7
OMIM number:                 176891
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1;PTPRZ1


Transcript Sequence (SEQ ID NO:546):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGGMGCCGCGG
CGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCC
CGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCSAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTC
TCTGTCTCTGTCTCTSTCTCTCTCTCTCTCWCACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGAT
TAAAACAAACAAACAAAAAAAACATTTCYTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAA
ATGCGAAKCCTAAAGCKTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTG
AAGAGATTGGCTGGTCCTATACAGGAGCACTGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGA
TGAAGATCTTACACAAGTAAATGTGAATCTTAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAA
ACAGTGGAAATTAATCTCACTAATGACTACCGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCA
ATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGCRGACCGATTTTCAAGTTTTGA
GGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCAAAGCGATTATTGATGGAGTC
GAAAGTGTTAGTCGTTTTGGGAAGCAGGCTGCTTTAGATCCATTCATACTGTTGAACCTTCTGCCAAACTCAACTGACAAGTATTACATTTACAATGGCT
CATTGACATCTCCTCCCTGCACAGACACAGTTGACTGGATTGTTTTTAAAGATACAGTTAGCATCTCTGAAAGCCAGTTGGCTGTTTTTTGTGAAGTTCT
TACAATGCAACAATCTGGTTATGTCATGCTGATGGACTACTTACAAAACAATTTTCGAGAGCAACAGTACAAGTTCTCTAGACAGGTGTTTTCCTCATAC
ACTGGAAAGGAAGAGATTCATGAAGCAGTTTGTAGTTCAGAACCAGAAAATGTTCAGGCTGACCCAGAGAATTATACCAGCCTTCTTGTTACATGGGAAA
GACCTCGAGTCGTTTATGATACCATGATTGAGAAGTTTGCAGTTTTGTACCAGCAGTTGGATGGAGAGGACCAAACCAAGCATGAATTTTTGACAGATGG
CTATCAAGACTTGGGTGCTATTCTCAATAATTTGCTACCCAATATGAGTTATGTTCTTCAGATAGTAGCCATATGCACTAATGGCTTATATGGAAAATAC
AGCGACCAACTGATTGTCGACATGCCTACTGATAATCCTGAACTTGATCTTTTCCCTGAATTAATTGGAACTGAAGAAATAATCAAGGAGGAGGAAGAGG
GAAAAGACATTGAAGAAGGCGCTATTGTGAATCCTGGTAGAGACAGTGCTACAAACCAAATCAGGAAAAAGGAACCCCAGATTTCTACCACAACACACTA
CAATCGCATAGGGACGAAATACAATGAAGCCAAGACTAACCGATCCCCAACAAGAGGAAGTGAATTCTCTGGAAAGGGTGATGTTCCCAATACATCTTTA
AATTCCACTTCCCAACCAGTCACTAAATTAGCCACAGAAAAAGATATTTCCTTGACTTCTCAGACTGTGACTGAACTGCCACCTCACACTGTGGAAGGTA
CTTCAGCCTCTTTAAATGATGGCTCTAAAACTGTTCTTAGATCTCCACATATGAACTTGTCGGGGACTGCAGAATCCTTAAATACAGTTTCTATAACAGA
ATATGAGGAGGAGAGTTTATTGACCAGTTTCAAGCTTGATACTGGAGCTGAAGATTCTTCAGGCTCCAGTCCCGCAACTTCTGCTATCCCATTCATCTCT
GAGAACATATCCCAAGGGTATATATTTTCCTCCGAAAACCCAGAGACAATAACATATGATGTCCTTATACCAGAATCTGCTAGAAATGCTTCCGAAGATT
CAACTTCATCAGGTTCAGAAGAATCACTAAAGGATCCTTCTATGGAGGGAAATGTGTGGTTTCCTAGCTCTACAGACATAACAGCACAGCCCGATGTTGG
ATCAGGCAGAGAGAGCTTTCTCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCA
CAGGGTCCCTCAGTTACAGAYCTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGAC
AACAGGATTTGGTCTCCACGGTCAACGTGGTATACTCGCAGACAACCCAACCGGTATACAATGGTGAGACACCTCTTCAACCTTCCTACAGTAGTGAAGT
CTTTCCTCTAGTCACCCCTTTGTTGCTTGACAATCAGATCCTCAACACTACCCCTGCTGCTTCAAGTAGTGATTCGGCCTTGCATGCTACGCCTGTATTT
CCCAGTGTCGATGTGTCATTTGAATCCATCCTGTCTTCCTATGATGGTGCACCTTTGCTTCCATTTTCCTCTGCTTCCTTCAGTAGTGAATTGTTTCGCC
ATCTGCATACAGTTTCTCAAATCCTTCCACAAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGSCTGGGGGTGATTT
GCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGWGCTGWCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTAT
AAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGCAGTGATGCCATGATGCATGCACGTTCTTCAGGGCCTGAACCTTCTTATGCCTTGTCTGATAATG
AGGGCTCCCAACACATCTTCACTGTTTCTTACAGTTCTGCAATACCTGTGCATGATTCTGTGGGTGTAACTTATCAGGGTTCCTTATTTAGCGGCCCTAG
CCATATACCAATACCTAAGTCTTCGTTAATAACCCCAACTGCATCATTACTGCAGCCTACTCATGCCCTCTCTGGTGATGGGGAATGGTCTGGAGCCTCT
TCTGATAGTGAATTTCTTTTACCTGACACAGATGGGCTGACAGCCCTTAACATTTCTTCACCTGTTTCTGTAGCTGAATTTACATATACAACATCTGTGT
TTGGTGATGATAATAAGGCGCTTTCTAAAAGTGAAATAATATATGGAAATGAGACTGAACTGCAAATTCCTTCTTTCAATGAGATGGTTTACCCTTCTGA
AAGCACAGTCATGCCCAACATGTATGATAATGTAAATAAGTTGAATGCGTCTTTACAAGAAACCTCTGTTTCCATTTCTAGCACCAAGGGCATGTTTCCA
GGGTCCCTTGCTCATACCACCACTAAGGTTTTTGATCATGAGATTAGTCAAGTTCCAGAAAATAACTTTTCAGTTCAACCTACACATACTGTCTCTCAAG
CATCTGGTGACACTTCGCTTAAACCTGTGCTTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCARCT
CTTATTTTATGAGACCTCAGCTTCTTTTAGTACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTCCA
GCTGTGCCCAGTGATCCAATATTGGTTGAAACCCCCAAAGTTGATAAAATTAGTTCTACAATGTTGCATCTCATTGTATCAAATTCTGCTTCAAGTGAAA
ACATGCTGCACTCTACATCTGTACCAGTTTTTGATGTGTCGCCTACTTCTCATATGCACTCTGCTTCACTTCAAGGTTTGACCATTTCCTATGCAAGTGA
GAAATATGAACCAGTTTTGTTAAAAAGTGAAAGTTCCCACCAAGTGGTACCTTCTTTGTACAGTAATGATGAGTTGTTCCAAACGGCCAATTTGGAGATT
AACCAGGCCCATCCCCCAAAAGGAAGGCATGTATTTGCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCG
ATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTGRTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACRTTTGTATCTACTGATCATTCTGT
TCCTATAGGAAATGGGCATGTTGCCRTTACAGCTGTTTCTCCCCACAGARATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCT
GAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGRDGATGATGATGATGACAGAGRTAGTG
ATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTTATGGA
TCAGAATAATCCAATCTCATACTCACTATCTGAGAATTCTGAAGAAGATAATAGAGTCACAAGTGTATCCTCAGACAGTCAAACTGGTATGGACAGAAGT
CCTGGTAAATCACCATCAGCAAATGGGCTATCCCAAAAGCACAATGATGGAAAAGAGGAAAATGACATTCAGACTGGTAGTGCTCTGCTTCCTCTCAGCC
CTGAATCTAAAGCATGGGCAGTTCTGACAAGTGATGAAGAAAGTGGATCAGGGCAAGGTACCTCAGATAGCCTTAATGAGAATGAGACTTCCACAGATTT
CAGTTTTGCAGACACTAATGAAAAAGATGCTGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTT
ACTAGCGAGAACKCAGAAGTGTTCCACGTTTCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGA
AGAAGGCAGTTATACCCCTTGTGATCGTGTCAGCCCTGACTTTTATCTGTCTAGTGGTTCTTGTGGGTATTCTCATCTACTGGAGGAAATGCTTCCAGAC
TGCACACTTTTACTTAGAGGACAGTACATCCCCTAGAGTTATATCCACACCTCCAACACCTATCTTTCCAATTTCAGATGATGTCGGAGCAATTCCAATA
AAGCACTTTCCAAAGCATGTTGCAGATTTACATGCAAGTAGTGGGTTTACTGAAGAATTTGAGACACTGAAAGAGTTTTACCAGGAAGTGCAGAGCTGTA
CTGTTGACTTAGGTATTACAGCAGACAGCTCCAACCACCCAGACAACAAGCACAAGAATCGATACATAAATATCGTTGCCTATGATCATAGCAGGGTTAA
GCTAGCACAGCTTGCTGAAAAGGATGGCAAACTGACTGATTATATCAATGCCAATTATGTTGATGGCTACAACAGACCAAAAGCTTATATTGCTGCCCAA
GGCCCACTGAAATCCACAGCTGAAGATTTCTGGAGAATGATATGGGAACATAATGTGGAAGTTATTGTCATGATAACAAACCTCGTGGAGAAAGGAAGGA
GAAAATGTGATCAGTACTGGCCTGCCGATGGGAGTGAGGAGTACGGGAACTTTCTGGTCACTCAGAAGAGTGTGCAAGTGCTTGCCTATTATACTGTGAG
GAATTTTACTCTAAGAAACACAAAAATAAAAAAGGGCTCCCAGAAAGGAAGACCCAGTGGACGTGTGGTCACACAGTATCACTACACGCAGTGGCCTGAC
ATGGGAGTACCAGAGTACTCCCTGCCAGTGCTGACCTTTGTGAGAAAGGCAGCCTATGCCAAGCGCCATGCAGTGGGGCCTGTTGTCGTCCACTGCAGTG
CTGGAGTTGGAAGAACAGGCACATATATTGTGCTAGACAGTATGTTGCAGCAGATTCAACACGAAGGAACTGTCAACATATTTGGCTTCTTAAAACACAT
CCGTTCACAAAGAAATTATTTGGTACAAACTGAGGAGCAATATGTCTTCATTCATGATACACTGGTTGAGGCCATACTTAGTAAAGAAACTGAGGTGCTG
GACAGTCATATTCATGCCTATGTTAATGCACTCCTCATTCCTGGACCAGCAGGCAAAACAAAGCTAGAGAAACAATTCCAGCTCCTGAGCCAGTCAAATA
TACAGCAGAGTGACTATTCTGCAGCCCTAAAGCAATGCAACAGGGAAAAGAATCGAACTTCTTCTATCATCCCTGTGGAAAGATCAAGGGTTGGCATTTC
ATCCCTGAGTGGAGAAGGCACAGACTACATCAATGCCTCCTATATCATGGGCTATTACCAGAGCAATGAATTCATCATTACCCAGCACCCTCTCCTTCAT
ACCATCAAGGATTTCTGGAGGATGATATGGGACCATAATGCCCAACTGGTGGTTATGATTCCTGATGGCCAAAACATGGCAGAAGATGAATTTGTTTACT
GGCCAAATAAAGATGAGCCTATAAATTGTGAGAGCTTTAAGGTCACTCTTATGGCTGAAGAACACAAATGTCTATCTAATGAGGAAAAACTTATAATTCA
GGACTTTATCTTAGAAGCTACACAGGATGATTATGTACTTGAAGTGAGGCACTTTCAGTGTCCTAAATGGCCAAATCCAGATAGCCCCATTAGTAAAACT
TTTGAACTTATAAGTGTTATAAAAGAAGAAGCTGCCAATAGGGATGGGCCTATGATTGTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTG
CTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGGKAGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGA
CATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAGGAAGAGAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCA
TTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGGRACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAAT
TAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCATGACATAGGATTCTGCCGCCAAATTTATATCATTAA
CAATGTGTGCCTTTTTGCAAGACTTGTAATTTACTTATTATGTTTGAACTAAAATGATTGAATTTTACAGTATTTCTAAGAATGGAATTGTGGTATTTTT
TTCTGTATTGATTTTAACAGAAAATTTCAATTTATAGAGGTTAGGAATTCCAAACTACAGAAAATGTTTGTTTTTAGTGTCAAATTTTTAGCTGTATTTG
TAGCAATTATCAGGTTTGCTAGAAATATAACTTTTAATACAGTAGCCTGTAAATAAAACACTCTTCCATATGATATTCAACATTTTACAACTGCAGTATT
CACCTAAAGTAGAAATAATCTGTTACTTATTGTAAATACTGCCCTAGTGTCTCCATGGACCAAATTTATATTTATAATTGTAGATTTTTATATTTTACTA
CTGAGTCAAGTTTTCTAGTTCTGTGTAATTGTTTAGTTTAATGACGTAGTTCATTAGCTGGTCTTACTCTACCAGTTTTCTGACATTGTATTGTGTTACC
TAAGTCATTAACTTTGTTTCAGCATGTAATTTTAACTTTTGTGGAAAATAGAAATACCTTCATTTTGAAAGAAGTTTTTATGAGAATAACACCTTACCAA
ACATTGTTCAAATGGTTTTTATCCAAGGAATTGCAAAAATAAATATAAATATTGCCATTAATTTGT

Protein Sequence    (SEQ ID NO:1243):
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGK
TVEINLTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEMQIYCFDADRFSSFEEAVKGKGKLRALSILFEVGTEENLDFKAIIDGV
ESVSRFGKQAALDPFILLNLLPNSTDKYYIYNGSLTSPPCTDTVDWIVFKDTVSISESQLAVFCEVLTMQQSGYVMLMDYLQNNFREQQYKFSRQVFSSY
TGKEEIHEAVCSSEPENVQADPENYTSLLVTWERPRVVYDTMIEKFAVLYQQLDGEDQTKHEFLTDGYQDLGAILNNLLPNMSYVLQIVAICTNGLYGKY
SDQLIVDMPTDNPELDLFPELIGTEEIIKEEEEGKDIEEGAIVNPGRDSATNQIRKKEPQISTTTHYNRIGTKYNEAKTNRSPTRGSEFSGKGDVPNTSL
NSTSQPVTKLATEKDISLTSQTVTELPPHTVEGTSASLNDGSKTVLRSPHMNLSGTAESLNTVSITEYEEESLLTSFKLDTGAEDSSGSSPATSAIPFIS
ENISQGYIFSSENPETITYDVLIPESARNASEDSTSSGSEESLKDPSMEGNVWFPSSTDITAQPDVGSGRESFLQTNYTEIRVDESEKTTKSFSAGPVMS
QGPSVTDLEMPHYSTFAYFPTEVTPHAFTPSSRQQDLVSTVNVVYSQTTQPVYNGETPLQPSYSSEVFPLVTPLLLDNQILNTTPAASSSDSALHATPVF
PSVDVSFESILSSYDGAPLLPFSSASFSSELFRHLHTVSQILPQVTSATESDKVPLHASLPVAGGDLLLEPSLAQYSDVLSTTHAASETLEFGSESGVLY
KTLMFSQVEPPSSDAMMHARSSGPEPSYALSDNEGSQHIFTVSYSSAIPVHDSVGVTYQGSLFSGPSHIPIPKSSLITPTASLLQPTHALSGDGEWSGAS
SDSEFLLPDTDGLTALNISSPVSVAEFTYTTSVFGDDNKALSKSEIIYGNETELQIPSFNEMVYPSESTVMPNMYDNVNKLNASLQETSVSISSTKGMFP
GSLAHTTTKVFDHEISQVPENNFSVQPTHTVSQASGDTSLKPVLSANSEPASSDPASSEMLSPSTQLLFYETSASFSTEVLLQPSFQASDVDTLLKTVLP
AVPSDPILVETPKVDKISSTMLHLIVSNSASSENMLHSTSVPVFDVSPTSHMHSASLQGLTISYASEKYEPVLLKSESSHQVVPSLYSNDELFQTANLEI
NQAHPPKGRHVFATPVLSIDEPLNTLINKLIHSDEILTSTKSSVTGKVFAGIPTVASDTFVSTDHSVPIGNGHVAITAVSPHRDGSVTSTKLLFPSKATS
ELSHSAKSDAGLVGGGEDGDTDDDGDDDDDRDSDGLSIHKCMSCSSYRESQEKVMNDSDTHENSLMDQNNPISYSLSENSEEDNRVTSVSSDSQTGMDRS
PGKSPSANGLSQKHNDGKEENDIQTGSALLPLSPESKAWAVLTSDEESGSGQGTSDSLNENETSTDFSFADTNEKDADGILAAGDSEITPGFPQSPTSSV
TSENSEVFHVSEAEASNSSHESRIGLAEGLESEKKAVIPLVIVSALTFICLVVLVGILIYWRKCFQTAHFYLEDSTSPRVISTPPTPIFPISDDVGAIPI
KHFPKHVADLHASSGFTEEFETLKEFYQEVQSCTVDLGITADSSNHPDNKHKNRYINIVAYDHSRVKLAQLAEKDGKLTDYINANYVDGYNRPKAYIAAQ
GPLKSTAEDFWRMIWEHNVEVIVMITNLVEKGRRKCDQYWPADGSEEYGNFLVTQKSVQVLAYYTVRNFTLRNTKIKKGSQKGRPSGRVVTQYHYTQWPD
MGVPEYSLPVLTFVRKAAYAKRHAVGPVVVHCSAGVGRTGTYIVLDSMLQQIQHEGTVNIFGFLKHIRSQRNYLVQTEEQYVFIHDTLVEAILSKETEVL
DSHIHAYVNALLIPGPAGKTKLEKQFQLLSQSNIQQSDYSAALKQCNREKNRTSSIIPVERSRVGISSLSGEGTDYINASYIMGYYQSNEFIITQHPLLH
TIKDFWRMIWDHNAQLVVMIPDGQNMAEDEFVYWPNKDEPINCESFKVTLMAEEHKCLSNEEKLIIQDFILEATQDDYVLEVRHFQCPKWPNPDSPISKT
FELISVIKEEAANRDGPMIVHDEHGGVTAGTFCALTTLMHQLEKENSVDVYQVAKMINLMRPGVFADIEQYQFLYKVILSLVSTRQEENPSTSLDSNGAA
LPDGNIAESLESLV


SNP Information

Context             (SEQ ID NO:9719):
AAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGC
K
TTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCC
Celera SNP ID:            hCV11435159
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,40)   total(G,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 6, (R,CGT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,13)   total(G,13|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 6, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:9720):
TCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTC
Y
TTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGCGTTTCCTCGCTTG
Celera SNP ID:            hCV11611432
SNP Position Transcript:  429
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1243, None   



Context             (SEQ ID NO:9721):
ACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTC
S
AGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGC
Celera SNP ID:            hCV25620967
SNP Position Transcript:  264
SNP Source:               Applera
Population(Allele,Count): african american(C,16|G,12)   caucasian(C,26)   total(C,42|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1243, None



Context             (SEQ ID NO:9722):
ACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATG
W
GCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGC
Celera SNP ID:            hCV29144131
SNP Position Transcript:  3136
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 879, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:9723):
AGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTG
W
CCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGCAGTGA
Celera SNP ID:            hCV29144132
SNP Position Transcript:  3141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 881, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:9724):
GCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTG
R
TAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTT
Celera SNP ID:            hCV25620933
SNP Position Transcript:  4537
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1346, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9725):
GAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGG
R
ACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCA
Celera SNP ID:            hCV8951456
SNP Position Transcript:  7464
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1243, None   



Context             (SEQ ID NO:9726):
AAGCATCTGGTGACACTTCGCTTAAACCTGTGCTTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCA
R
CTCTTATTTTATGAGACCTCAGCTTCTTTTAGTACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTC
Celera SNP ID:            hCV25620942
SNP Position Transcript:  3998
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 1166, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:9727):
CACTAATGAAAAAGATGCTGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTTACTAGCGAGAAC
K
CAGAAGTGTTCCACGTTTCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTAT
Celera SNP ID:            hCV25620926
SNP Position Transcript:  5313
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,36)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1605, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:9728):
TGAATTGTTTCGCCATCTGCATACAGTTTCTCAAATCCTTCCACAAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTG
S
CTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATC
Celera SNP ID:            hCV8951402
SNP Position Transcript:  3087
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 863, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:9729):
GTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGG
K
AGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAG
Celera SNP ID:            hCV25620943
SNP Position Transcript:  7258
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,36)   total(G,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 2253, (G,GGA)   (V,GTA)   



Context             (SEQ ID NO:9730):
TGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGA
R
ATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGA
Celera SNP ID:            hCV25620927
SNP Position Transcript:  4650
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,31)   total(A,2|G,62)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1384, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,2|G,32)   total(A,3|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1384, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:9731):
TTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCC
R
TTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGA
Celera SNP ID:            hCV25620935
SNP Position Transcript:  4626
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1376, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:9732):
ACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGGTGATGATGATGATGACAGAG
R
TAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTT
Celera SNP ID:            hCV8951403
SNP Position Transcript:  4795
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,15|G,17)   total(A,47|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1432, (D,GAT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,19|G,21)   total(A,52|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1432, (D,GAT)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1432, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:9733):
TAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATAC
R
TTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGC
Celera SNP ID:            hCV25620928
SNP Position Transcript:  4577
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 1359, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9734):
CTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGC
R
GACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCA
Celera SNP ID:            hCV386804
SNP Position Transcript:  980
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,19|G,21)   total(A,24|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 160, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,12)      total(G,12|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 160, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9735):
TGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGG
D
GATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAG
Celera SNP ID:            hCV26499604
SNP Position Transcript:  4775
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,3|T,3|-,5)   total(G,3|A,3|-,5|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 1425, (,GG-)   (G,GGA)   (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:9736):
TCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGA
Y
CTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGG
Celera SNP ID:            hCV25754343
SNP Position Transcript:  2621
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1243, 707, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:9737):
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTC
W
CACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCCTT
Celera SNP ID:            hCV25620956
SNP Position Transcript:  331
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,24)   caucasian(A,36|T,4)   total(A,42|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1243, None



Context             (SEQ ID NO:9738):
AACAAACAAAAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAA
K
CCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATT
Celera SNP ID:            hCV8951165
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(G,3|T,37)   total(G,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 3, (S,AGC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,13)      total(G,1|T,13) ;JBIG-allele(G,356|T,741)   total(T,741|G,356)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 3, (S,AGC)   (I,ATC)      3, (I,ATC)   (S,AGC)      



Context             (SEQ ID NO:9739):
TTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATG
R
TGATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCA
Celera SNP ID:            hCV25754669
SNP Position Transcript:  4774
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,12|G,20)   total(A,20|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1243, 1425, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9740):
ATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCT
S
TCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAA
Celera SNP ID:            hCV25620957
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,8|G,6)   total(C,20|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1243, None



Context             (SEQ ID NO:9741):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGG
M
GCCGCGGCGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGC
Celera SNP ID:            hCV8556712
SNP Position Transcript:  93
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,8)      total(A,8|C,2) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1243, None   



Gene Number:                 213
Celera Gene:                 hCG33411 - 146000220004976
Celera Transcript:           hCT2305245 - 146000220005053
Public Transcript Accession: NM_002851
Celera Protein:              hCP1904876 - 197000069468140
Public Protein Accession:    NP_002842
Gene Symbol:                 PTPRZ1
Protein Name:                protein tyrosine phosphatase, receptor-type, Z polypeptide 1;HPTPZ;PTP18;PTPRZ;PTPZ;RPTPB
Celera Genomic Axis:         GA_x5YUV32W188(19081160..19270067)
Chromosome:                  Chr7
OMIM number:                 176891
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1;PTPRZ1


Transcript Sequence (SEQ ID NO:547):
GCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAG
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCSAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTSTCTCTCTCTCTCTC
WCACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCYT
TCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAAKCCTAAAGCKTTTCCTCGCTTGC
ATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCCTATACAGGAGCAC
TGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGATGAAGATCTTACACAAGTAAATGTGAATCT
TAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAAACAGTGGAAATTAATCTCACTAATGACTAC
CGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTT
TAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGCRGACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAG
AGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCAAAGCGATTATTGATGGAGTCGAAAGTGTTAGTCGTTTTGGGAAGCAGGCT
GCTTTAGATCCATTCATACTGTTGAACCTTCTGCCAAACTCAACTGACAAGTATTACATTTACAATGGCTCATTGACATCTCCTCCCTGCACAGACACAG
TTGACTGGATTGTTTTTAAAGATACAGTTAGCATCTCTGAAAGCCAGTTGGCTGTTTTTTGTGAAGTTCTTACAATGCAACAATCTGGTTATGTCATGCT
GATGGACTACTTACAAAACAATTTTCGAGAGCAACAGTACAAGTTCTCTAGACAGGTGTTTTCCTCATACACTGGAAAGGAAGAGATTCATGAAGCAGTT
TGTAGTTCAGAACCAGAAAATGTTCAGGCTGACCCAGAGAATTATACCAGCCTTCTTGTTACATGGGAAAGACCTCGAGTCGTTTATGATACCATGATTG
AGAAGTTTGCAGTTTTGTACCAGCAGTTGGATGGAGAGGACCAAACCAAGCATGAATTTTTGACAGATGGCTATCAAGACTTGGGTGCTATTCTCAATAA
TTTGCTACCCAATATGAGTTATGTTCTTCAGATAGTAGCCATATGCACTAATGGCTTATATGGAAAATACAGCGACCAACTGATTGTCGACATGCCTACT
GATAATCCTGAACTTGATCTTTTCCCTGAATTAATTGGAACTGAAGAAATAATCAAGGAGGAGGAAGAGGGAAAAGACATTGAAGAAGGCGCTATTGTGA
ATCCTGGTAGAGACAGTGCTACAAACCAAATCAGGAAAAAGGAACCCCAGATTTCTACCACAACACACTACAATCGCATAGGGACGAAATACAATGAAGC
CAAGACTAACCGATCCCCAACAAGAGGAAGTGAATTCTCTGGAAAGGGTGATGTTCCCAATACATCTTTAAATTCCACTTCCCAACCAGTCACTAAATTA
GCCACAGAAAAAGATATTTCCTTGACTTCTCAGACTGTGACTGAACTGCCACCTCACACTGTGGAAGGTACTTCAGCCTCTTTAAATGATGGCTCTAAAA
CTGTTCTTAGATCTCCACATATGAACTTGTCGGGGACTGCAGAATCCTTAAATACAGTTTCTATAACAGAATATGAGGAGGAGAGTTTATTGACCAGTTT
CAAGCTTGATACTGGAGCTGAAGATTCTTCAGGCTCCAGTCCCGCAACTTCTGCTATCCCATTCATCTCTGAGAACATATCCCAAGGGTATATATTTTCC
TCCGAAAACCCAGAGACAATAACATATGATGTCCTTATACCAGAATCTGCTAGAAATGCTTCCGAAGATTCAACTTCATCAGGTTCAGAAGAATCACTAA
AGGATCCTTCTATGGAGGGAAATGTGTGGTTTCCTAGCTCTACAGACATAACAGCACAGCCCGATGTTGGATCAGGCAGAGAGAGCTTTCTCCAGACTAA
TTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGAYCTGGAAATG
CCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGGTCAACGTGG
TATACTCGCAGACAACCCAACCGGTATACAATGGTGAGACACCTCTTCAACCTTCCTACAGTAGTGAAGTCTTTCCTCTAGTCACCCCTTTGTTGCTTGA
CAATCAGATCCTCAACACTACCCCTGCTGCTTCAAGTAGTGATTCGGCCTTGCATGCTACGCCTGTATTTCCCAGTGTCGATGTGTCATTTGAATCCATC
CTGTCTTCCTATGATGGTGCACCTTTGCTTCCATTTTCCTCTGCTTCCTTCAGTAGTGAATTGTTTCGCCATCTGCATACAGTTTCTCAAATCCTTCCAC
AAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGSCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTC
TGATGWGCTGWCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCA
CCCAGCAGTGATGCCATGATGCATGCACGTTCTTCAGGGCCTGAACCTTCTTATGCCTTGTCTGATAATGAGGGCTCCCAACACATCTTCACTGTTTCTT
ACAGTTCTGCAATACCTGTGCATGATTCTGTGGGTGTAACTTATCAGGGTTCCTTATTTAGCGGCCCTAGCCATATACCAATACCTAAGTCTTCGTTAAT
AACCCCAACTGCATCATTACTGCAGCCTACTCATGCCCTCTCTGGTGATGGGGAATGGTCTGGAGCCTCTTCTGATAGTGAATTTCTTTTACCTGACACA
GATGGGCTGACAGCCCTTAACATTTCTTCACCTGTTTCTGTAGCTGAATTTACATATACAACATCTGTGTTTGGTGATGATAATAAGGCGCTTTCTAAAA
GTGAAATAATATATGGAAATGAGACTGAACTGCAAATTCCTTCTTTCAATGAGATGGTTTACCCTTCTGAAAGCACAGTCATGCCCAACATGTATGATAA
TGTAAATAAGTTGAATGCGTCTTTACAAGAAACCTCTGTTTCCATTTCTAGCACCAAGGGCATGTTTCCAGGGTCCCTTGCTCATACCACCACTAAGGTT
TTTGATCATGAGATTAGTCAAGTTCCAGAAAATAACTTTTCAGTTCAACCTACACATACTGTCTCTCAAGCATCTGGTGACACTTCGCTTAAACCTGTGC
TTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCARCTCTTATTTTATGAGACCTCAGCTTCTTTTAG
TACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTCCAGCTGTGCCCAGTGATCCAATATTGGTTGAA
ACCCCCAAAGTTGATAAAATTAGTTCTACAATGTTGCATCTCATTGTATCAAATTCTGCTTCAAGTGAAAACATGCTGCACTCTACATCTGTACCAGTTT
TTGATGTGTCGCCTACTTCTCATATGCACTCTGCTTCACTTCAAGGTTTGACCATTTCCTATGCAAGTGAGAAATATGAACCAGTTTTGTTAAAAAGTGA
AAGTTCCCACCAAGTGGTACCTTCTTTGTACAGTAATGATGAGTTGTTCCAAACGGCCAATTTGGAGATTAACCAGGCCCATCCCCCAAAAGGAAGGCAT
GTATTTGCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTG
TTACTGRTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACRTTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCRTTAC
AGCTGTTTCTCCCCACAGARATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCC
GGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGRDGATGATGATGATGACAGAGRTAGTGATGGCTTATCCATTCATAAGTGTATGTCAT
GCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTTATGGATCAGAATAATCCAATCTCATACTCACTATC
TGAGAATTCTGAAGAAGATAATAGAGTCACAAGTGTATCCTCAGACAGTCAAACTGGTATGGACAGAAGTCCTGGTAAATCACCATCAGCAAATGGGCTA
TCCCAAAAGCACAATGATGGAAAAGAGGAAAATGACATTCAGACTGGTAGTGCTCTGCTTCCTCTCAGCCCTGAATCTAAAGCATGGGCAGTTCTGACAA
GTGATGAAGAAAGTGGATCAGGGCAAGGTACCTCAGATAGCCTTAATGAGAATGAGACTTCCACAGATTTCAGTTTTGCAGACACTAATGAAAAAGATGC
TGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTTACTAGCGAGAACKCAGAAGTGTTCCACGTT
TCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTATACCCCTTGTGATCGTGT
CAGCCCTGACTTTTATCTGTCTAGTGGTTCTTGTGGGTATTCTCATCTACTGGAGGAAATGCTTCCAGACTGCACACTTTTACTTAGAGGACAGTACATC
CCCTAGAGTTATATCCACACCTCCAACACCTATCTTTCCAATTTCAGATGATGTCGGAGCAATTCCAATAAAGCACTTTCCAAAGCATGTTGCAGATTTA
CATGCAAGTAGTGGGTTTACTGAAGAATTTGAGACACTGAAAGAGTTTTACCAGGAAGTGCAGAGCTGTACTGTTGACTTAGGTATTACAGCAGACAGCT
CCAACCACCCAGACAACAAGCACAAGAATCGATACATAAATATCGTTGCCTATGATCATAGCAGGGTTAAGCTAGCACAGCTTGCTGAAAAGGATGGCAA
ACTGACTGATTATATCAATGCCAATTATGTTGATGGCTACAACAGACCAAAAGCTTATATTGCTGCCCAAGGCCCACTGAAATCCACAGCTGAAGATTTC
TGGAGAATGATATGGGAACATAATGTGGAAGTTATTGTCATGATAACAAACCTCGTGGAGAAAGGAAGGAGAAAATGTGATCAGTACTGGCCTGCCGATG
GGAGTGAGGAGTACGGGAACTTTCTGGTCACTCAGAAGAGTGTGCAAGTGCTTGCCTATTATACTGTGAGGAATTTTACTCTAAGAAACACAAAAATAAA
AAAGGGCTCCCAGAAAGGAAGACCCAGTGGACGTGTGGTCACACAGTATCACTACACGCAGTGGCCTGACATGGGAGTACCAGAGTACTCCCTGCCAGTG
CTGACCTTTGTGAGAAAGGCAGCCTATGCCAAGCGCCATGCAGTGGGGCCTGTTGTCGTCCACTGCAGTGCTGGAGTTGGAAGAACAGGCACATATATTG
TGCTAGACAGTATGTTGCAGCAGATTCAACACGAAGGAACTGTCAACATATTTGGCTTCTTAAAACACATCCGTTCACAAAGAAATTATTTGGTACAAAC
TGAGGAGCAATATGTCTTCATTCATGATACACTGGTTGAGGCCATACTTAGTAAAGAAACTGAGGTGCTGGACAGTCATATTCATGCCTATGTTAATGCA
CTCCTCATTCCTGGACCAGCAGGCAAAACAAAGCTAGAGAAACAATTCCAGCTCCTGAGCCAGTCAAATATACAGCAGAGTGACTATTCTGCAGCCCTAA
AGCAATGCAACAGGGAAAAGAATCGAACTTCTTCTATCATCCCTGTGGAAAGATCAAGGGTTGGCATTTCATCCCTGAGTGGAGAAGGCACAGACTACAT
CAATGCCTCCTATATCATGGGCTATTACCAGAGCAATGAATTCATCATTACCCAGCACCCTCTCCTTCATACCATCAAGGATTTCTGGAGGATGATATGG
GACCATAATGCCCAACTGGTGGTTATGATTCCTGATGGCCAAAACATGGCAGAAGATGAATTTGTTTACTGGCCAAATAAAGATGAGCCTATAAATTGTG
AGAGCTTTAAGGTCACTCTTATGGCTGAAGAACACAAATGTCTATCTAATGAGGAAAAACTTATAATTCAGGACTTTATCTTAGAAGCTACACAGGATGA
TTATGTACTTGAAGTGAGGCACTTTCAGTGTCCTAAATGGCCAAATCCAGATAGCCCCATTAGTAAAACTTTTGAACTTATAAGTGTTATAAAAGAAGAA
GCTGCCAATAGGGATGGGCCTATGATTGTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAA
AAGAAAATTCCGTGGATGTTTACCAGGKAGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGT
GATCCTCAGCCTTGTGAGCACAAGGCAGGAAGAGAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTA
GAGTCTTTAGTTTAACACAGAAAGGGGTGGGGGRACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTAT
CTGTTGATTTCCCATCACCTGACAGTAACTTTCATGACATAGGATTCTGCCGCCAAATTTATATCATTAACAATGTGTGCCTTTTTGCAAGACTTGTAAT
TTACTTATTATGTTTGAACTAAAATGATTGAATTTTACAGTATTTCTAAGAATGGAATTGTGGTATTTTTTTCTGTATTGATTTTAACAGAAAATTTCAA
TTTATAGAGGTTAGGAATTCCAAACTACAGAAAATGTTTGTTTTTAGTGTCAAATTTTTAGCTGTATTTGTAGCAATTATCAGGTTTGCTAGAAATATAA
CTTTTAATACAGTAGCCTGTAAATAAAACACTCTTCCATATGATATTCAACATTTTACAACTGCAGTATTCACCTAAAGTAGAAATAATCTGTTACTTAT
TGTAAATACTGCCCTAGTGTCTCCATGGACCAAATTTATATTTATAATTGTAGATTTTTATATTTTACTACTGAGTCAAGTTTTCTAGTTCTGTGTAATT
GTTTAGTTTAATGACGTAGTTCATTAGCTGGTCTTACTCTACCAGTTTTCTGACATTGTATTGTGTTACCTAAGTCATTAACTTTGTTTCAGCATGTAAT
TTTAACTTTTGTGGAAAATAGAAATACCTTCATTTTGAAAGAAGTTTTTATGAGAATAACACCTTACCAAACATTGTTCAAATGGTTTTTATCCAAGGAA
TTGCAAAAATAAATATAAATATTGCCATTAATTTGT

Protein Sequence    (SEQ ID NO:1244):
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGK
TVEINLTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEMQIYCFDADRFSSFEEAVKGKGKLRALSILFEVGTEENLDFKAIIDGV
ESVSRFGKQAALDPFILLNLLPNSTDKYYIYNGSLTSPPCTDTVDWIVFKDTVSISESQLAVFCEVLTMQQSGYVMLMDYLQNNFREQQYKFSRQVFSSY
TGKEEIHEAVCSSEPENVQADPENYTSLLVTWERPRVVYDTMIEKFAVLYQQLDGEDQTKHEFLTDGYQDLGAILNNLLPNMSYVLQIVAICTNGLYGKY
SDQLIVDMPTDNPELDLFPELIGTEEIIKEEEEGKDIEEGAIVNPGRDSATNQIRKKEPQISTTTHYNRIGTKYNEAKTNRSPTRGSEFSGKGDVPNTSL
NSTSQPVTKLATEKDISLTSQTVTELPPHTVEGTSASLNDGSKTVLRSPHMNLSGTAESLNTVSITEYEEESLLTSFKLDTGAEDSSGSSPATSAIPFIS
ENISQGYIFSSENPETITYDVLIPESARNASEDSTSSGSEESLKDPSMEGNVWFPSSTDITAQPDVGSGRESFLQTNYTEIRVDESEKTTKSFSAGPVMS
QGPSVTDLEMPHYSTFAYFPTEVTPHAFTPSSRQQDLVSTVNVVYSQTTQPVYNGETPLQPSYSSEVFPLVTPLLLDNQILNTTPAASSSDSALHATPVF
PSVDVSFESILSSYDGAPLLPFSSASFSSELFRHLHTVSQILPQVTSATESDKVPLHASLPVAGGDLLLEPSLAQYSDVLSTTHAASETLEFGSESGVLY
KTLMFSQVEPPSSDAMMHARSSGPEPSYALSDNEGSQHIFTVSYSSAIPVHDSVGVTYQGSLFSGPSHIPIPKSSLITPTASLLQPTHALSGDGEWSGAS
SDSEFLLPDTDGLTALNISSPVSVAEFTYTTSVFGDDNKALSKSEIIYGNETELQIPSFNEMVYPSESTVMPNMYDNVNKLNASLQETSVSISSTKGMFP
GSLAHTTTKVFDHEISQVPENNFSVQPTHTVSQASGDTSLKPVLSANSEPASSDPASSEMLSPSTQLLFYETSASFSTEVLLQPSFQASDVDTLLKTVLP
AVPSDPILVETPKVDKISSTMLHLIVSNSASSENMLHSTSVPVFDVSPTSHMHSASLQGLTISYASEKYEPVLLKSESSHQVVPSLYSNDELFQTANLEI
NQAHPPKGRHVFATPVLSIDEPLNTLINKLIHSDEILTSTKSSVTGKVFAGIPTVASDTFVSTDHSVPIGNGHVAITAVSPHRDGSVTSTKLLFPSKATS
ELSHSAKSDAGLVGGGEDGDTDDDGDDDDDRDSDGLSIHKCMSCSSYRESQEKVMNDSDTHENSLMDQNNPISYSLSENSEEDNRVTSVSSDSQTGMDRS
PGKSPSANGLSQKHNDGKEENDIQTGSALLPLSPESKAWAVLTSDEESGSGQGTSDSLNENETSTDFSFADTNEKDADGILAAGDSEITPGFPQSPTSSV
TSENSEVFHVSEAEASNSSHESRIGLAEGLESEKKAVIPLVIVSALTFICLVVLVGILIYWRKCFQTAHFYLEDSTSPRVISTPPTPIFPISDDVGAIPI
KHFPKHVADLHASSGFTEEFETLKEFYQEVQSCTVDLGITADSSNHPDNKHKNRYINIVAYDHSRVKLAQLAEKDGKLTDYINANYVDGYNRPKAYIAAQ
GPLKSTAEDFWRMIWEHNVEVIVMITNLVEKGRRKCDQYWPADGSEEYGNFLVTQKSVQVLAYYTVRNFTLRNTKIKKGSQKGRPSGRVVTQYHYTQWPD
MGVPEYSLPVLTFVRKAAYAKRHAVGPVVVHCSAGVGRTGTYIVLDSMLQQIQHEGTVNIFGFLKHIRSQRNYLVQTEEQYVFIHDTLVEAILSKETEVL
DSHIHAYVNALLIPGPAGKTKLEKQFQLLSQSNIQQSDYSAALKQCNREKNRTSSIIPVERSRVGISSLSGEGTDYINASYIMGYYQSNEFIITQHPLLH
TIKDFWRMIWDHNAQLVVMIPDGQNMAEDEFVYWPNKDEPINCESFKVTLMAEEHKCLSNEEKLIIQDFILEATQDDYVLEVRHFQCPKWPNPDSPISKT
FELISVIKEEAANRDGPMIVHDEHGGVTAGTFCALTTLMHQLEKENSVDVYQVAKMINLMRPGVFADIEQYQFLYKVILSLVSTRQEENPSTSLDSNGAA
LPDGNIAESLESLV


SNP Information

Context             (SEQ ID NO:9742):
TCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTC
Y
TTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGCGTTTCCTCGCTTG
Celera SNP ID:            hCV11611432
SNP Position Transcript:  299
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1244, None   



Context             (SEQ ID NO:9743):
ACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTC
S
AGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGC
Celera SNP ID:            hCV25620967
SNP Position Transcript:  134
SNP Source:               Applera
Population(Allele,Count): african american(C,16|G,12)   caucasian(C,26)   total(C,42|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1244, None



Context             (SEQ ID NO:9744):
TGAATTGTTTCGCCATCTGCATACAGTTTCTCAAATCCTTCCACAAGTTACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTG
S
CTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATC
Celera SNP ID:            hCV8951402
SNP Position Transcript:  2957
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 863, (P,CCT)   (A,GCT)      



Context             (SEQ ID NO:9745):
ACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGGTGATGATGATGATGACAGAG
R
TAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAGACACCCACGAAAACAGTCTT
Celera SNP ID:            hCV8951403
SNP Position Transcript:  4665
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,15|G,17)   total(A,47|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1432, (D,GAT)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,5)   caucasian(A,19|G,21)   total(A,52|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1432, (D,GAT)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1432, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:9746):
CTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGC
R
GACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAGTTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCA
Celera SNP ID:            hCV386804
SNP Position Transcript:  850
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(A,19|G,21)   total(A,24|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 160, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,12)      total(G,12|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 160, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9747):
TGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATGG
D
GATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCAG
Celera SNP ID:            hCV26499604
SNP Position Transcript:  4645
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|G,3|T,3|-,5)   total(G,3|A,3|-,5|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 1425, (,GG-)   (G,GGA)   (G,GGG)   (G,GGT)      



Context             (SEQ ID NO:9748):
TCCAGACTAATTACACTGAGATACGTGTTGATGAATCTGAGAAGACAACCAAGTCCTTTTCTGCAGGCCCAGTGATGTCACAGGGTCCCTCAGTTACAGA
Y
CTGGAAATGCCACATTATTCTACCTTTGCCTACTTCCCAACTGAGGTAACACCTCATGCTTTTACCCCATCCTCCAGACAACAGGATTTGGTCTCCACGG
Celera SNP ID:            hCV25754343
SNP Position Transcript:  2491
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,32)   total(C,1|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 707, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:9749):
AACAAACAAAAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAA
K
CCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATT
Celera SNP ID:            hCV8951165
SNP Position Transcript:  378
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(G,3|T,37)   total(G,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 3, (S,AGC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,13)      total(G,1|T,13) ;JBIG-allele(G,356|T,741)   total(T,741|G,356)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 3, (S,AGC)   (I,ATC)      3, (I,ATC)   (S,AGC)      



Context             (SEQ ID NO:9750):
AAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGC
K
TTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCC
Celera SNP ID:            hCV11435159
SNP Position Transcript:  387
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,40)   total(G,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 6, (R,CGT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,13)   total(G,13|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 6, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:9751):
ACTTCAGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATG
W
GCTGTCCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGC
Celera SNP ID:            hCV29144131
SNP Position Transcript:  3006
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 879, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:9752):
AGCTACCGAGAGTGATAAGGTGCCCTTGCATGCTTCTCTGCCAGTGGCTGGGGGTGATTTGCTATTAGAGCCCAGCCTTGCTCAGTATTCTGATGTGCTG
W
CCACTACTCATGCTGCTTCAGAGACGCTGGAATTTGGTAGTGAATCTGGTGTTCTTTATAAAACGCTTATGTTTTCTCAAGTTGAACCACCCAGCAGTGA
Celera SNP ID:            hCV29144132
SNP Position Transcript:  3011
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 881, (T,ACC)   (S,TCC)      



Context             (SEQ ID NO:9753):
GAATCCATCCACCTCTCTGGACAGTAATGGTGCAGCATTGCCTGATGGAAATATAGCTGAGAGCTTAGAGTCTTTAGTTTAACACAGAAAGGGGTGGGGG
R
ACTCACATCTGAGCATTGTTTTCCTCTTCCTAAAATTAGGCAGGAAAATCAGTCTAGTTCTGTTATCTGTTGATTTCCCATCACCTGACAGTAACTTTCA
Celera SNP ID:            hCV8951456
SNP Position Transcript:  7334
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1244, None   



Context             (SEQ ID NO:9754):
GCTACACCTGTTTTATCAATTGATGAACCATTAAATACACTAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTG
R
TAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTT
Celera SNP ID:            hCV25620933
SNP Position Transcript:  4407
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1346, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9755):
AAGCATCTGGTGACACTTCGCTTAAACCTGTGCTTAGTGCAAACTCAGAGCCAGCATCCTCTGACCCTGCTTCTAGTGAAATGTTATCTCCTTCAACTCA
R
CTCTTATTTTATGAGACCTCAGCTTCTTTTAGTACTGAAGTATTGCTACAACCTTCCTTTCAGGCTTCTGATGTTGACACCTTGCTTAAAACTGTTCTTC
Celera SNP ID:            hCV25620942
SNP Position Transcript:  3868
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,36)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 1166, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:9756):
CACTAATGAAAAAGATGCTGATGGGATCCTGGCAGCAGGTGACTCAGAAATAACTCCTGGATTCCCACAGTCCCCAACATCATCTGTTACTAGCGAGAAC
K
CAGAAGTGTTCCACGTTTCAGAGGCAGAGGCCAGTAATAGTAGCCATGAGTCTCGTATTGGTCTAGCTGAGGGGTTGGAATCCGAGAAGAAGGCAGTTAT
Celera SNP ID:            hCV25620926
SNP Position Transcript:  5183
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,37)   caucasian(T,36)   total(G,1|T,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1605, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:9757):
TTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCC
R
TTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGA
Celera SNP ID:            hCV25620935
SNP Position Transcript:  4496
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,37|G,1)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1376, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:9758):
TGGTATTCCAACAGTTGCTTCTGATACATTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGA
R
ATGGTTCTGTAACCTCAACAAAGTTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGA
Celera SNP ID:            hCV25620927
SNP Position Transcript:  4520
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,31)   total(A,2|G,62)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1384, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(A,2|G,32)   total(A,3|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1384, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:9759):
GTTCATGATGAGCATGGAGGAGTGACGGCAGGAACTTTCTGTGCTCTGACAACCCTTATGCACCAACTAGAAAAAGAAAATTCCGTGGATGTTTACCAGG
K
AGCCAAGATGATCAATCTGATGAGGCCAGGAGTCTTTGCTGACATTGAGCAGTATCAGTTTCTCTACAAAGTGATCCTCAGCCTTGTGAGCACAAGGCAG
Celera SNP ID:            hCV25620943
SNP Position Transcript:  7128
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,36)   total(G,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 2253, (G,GGA)   (V,GTA)   



Context             (SEQ ID NO:9760):
TAATAAATAAGCTTATACATTCCGATGAAATTTTAACCTCCACCAAAAGTTCTGTTACTGGTAAGGTATTTGCTGGTATTCCAACAGTTGCTTCTGATAC
R
TTTGTATCTACTGATCATTCTGTTCCTATAGGAAATGGGCATGTTGCCATTACAGCTGTTTCTCCCCACAGAGATGGTTCTGTAACCTCAACAAAGTTGC
Celera SNP ID:            hCV25620928
SNP Position Transcript:  4447
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,38|G,2)   total(A,74|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1244, 1359, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9761):
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTC
W
CACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCCTT
Celera SNP ID:            hCV25620956
SNP Position Transcript:  201
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,24)   caucasian(A,36|T,4)   total(A,42|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1244, None



Context             (SEQ ID NO:9762):
TTGCTGTTTCCTTCTAAGGCAACTTCTGAGCTGAGTCATAGTGCCAAATCTGATGCCGGTTTAGTGGGTGGTGGTGAAGATGGTGACACTGATGATGATG
R
TGATGATGATGATGACAGAGATAGTGATGGCTTATCCATTCATAAGTGTATGTCATGCTCATCCTATAGAGAATCACAGGAAAAGGTAATGAATGATTCA
Celera SNP ID:            hCV25754669
SNP Position Transcript:  4644
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,30)   caucasian(A,12|G,20)   total(A,20|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1244, 1425, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:9763):
ATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCT
S
TCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAA
Celera SNP ID:            hCV25620957
SNP Position Transcript:  186
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,8|G,6)   total(C,20|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1244, None



Gene Number:                 213
Celera Gene:                 hCG33411 - 146000220004976
Celera Transcript:           hCT2305247 - 146000220005045
Public Transcript Accession: NM_002851
Celera Protein:              hCP1904875 - 197000069468139
Public Protein Accession:    NP_002842
Gene Symbol:                 PTPRZ1
Protein Name:                protein tyrosine phosphatase, receptor-type, Z polypeptide 1;HPTPZ;PTP18;PTPRZ;PTPZ;RPTPB
Celera Genomic Axis:         GA_x5YUV32W188(19081030..19181949)
Chromosome:                  Chr7
OMIM number:                 176891
OMIM Information:            PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1;PTPRZ1


Transcript Sequence (SEQ ID NO:548):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGGMGCCGCGG
CGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCC
CGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCSAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTC
TCTGTCTCTGTCTCTSTCTCTCTCTCTCTCWCACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGAT
TAAAACAAACAAACAAAAAAAACATTTCYTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAA
ATGCGAAKCCTAAAGCKTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTG
AAGAGATTGGCTGGTCCTATACAGGAGCACTGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGA
TGAAGATCTTACACAAGTAAATGTGAATCTTAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAA
ACAGTGGAAATTAATCTCACTAATGACTACCGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCA
ATATGTCATCTGATGGATCAGAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGGTAAGTCAGGAGATCTGCTGTGTACTATTTTATTTTCTAAATAA
TTGATGTTTTTATTTAGCATATAATTTGATTAATTTTAAAATCCAATATTAAAATTTATAAAGTGATATTTTGATTACTTGATTAATATACTAGACTAAG
CTAAATTAATGTAAGACTTATCTTTGATTTGCCACTTGCTGGTAAGTAGCAACCCAAAGTGCCACAAAATGGTAATCAATAAATGCTGATGAATTAATGA
ATGAAGGAAGGAAAAGGGGGACAATTTCATTAACATACTGGAGAATCCTTTGATTTAAATCTTTTGATTAAAATGAGAAAAATTTTCAGCTTTAAAATTG
GCAAAGTAAATAATTATAAAAAATGAGTGTGTAGTGAAATGTTTTCTTACATGTCTAGAGAAAGTCTAAATTGGTAGACTTTCTGGGAAGCAGTTTGCTT
GTTTTTATTAAGAATTTTAAATGATTTACACTAAATACCCWACATTTAAATTTAAAGCCATTTAGTCTAAAAATTTAAAAATTGCAAAAATTTATTTAAA
ATATAATATTGAACCAAAAGGCAATGATTATTTAAATACATTATGATGGATATTATAGATTTCACAAAARTCATGTTTTTGAATGATATATATACATATA
AAAGGCTCATGATAAGGTATTAATGGTTTTAAAAAGAAACATGTTAAGTGGTATAACCAGTATTATTTTTGCAATTTTTTAATACATTAAAATTAATTAA
ATATTGACTGAGAGTGGAGTCTGAATCAAATGGACTAGGTTTGAATCTTGACTCCACCATTTGGTTATTGGTTACATGACATACAATATATAAATTATTT
AACTTACCAATGCTTCCATTTTTCTTCCRTGAAATTGACATAGTAGCTGCACCTGCCTTATAACATTACTATGGAAATTAAATGAGGGATTGACTTATTA
CTCATAAAAGTAATTGAGGAGCCAGGCGCRGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGATGGGCAGATCACTAGAGGTCAGGAGTTCC
AGACCAGCCTGGCCAACATGGTGAAATGCCACCTCTACTAAAAACACAAAAATTAGCTGGTCATGGTAGCACTCACCTGTAATTTCACCTACTCAGGAGG
CTGAGGCATGGGAATCACTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGACTGGGTAATGGAGTGAGACGCTGTCT
C

Protein Sequence    (SEQ ID NO:1245):
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGK
TVEINLTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEVSQEICCVLFYFLNN


SNP Information

Context             (SEQ ID NO:9764):
AAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGC
K
TTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATTGGCTGGTCC
Celera SNP ID:            hCV11435159
SNP Position Transcript:  517
SNP Source:               Applera
Population(Allele,Count): african american(G,34|T,4)   caucasian(G,40)   total(G,74|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1245, 6, (R,CGT)   (L,CTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,13)   total(G,13|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1245, 6, (R,CGT)   (L,CTT)      



Context             (SEQ ID NO:9765):
TCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTC
Y
TTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAATCCTAAAGCGTTTCCTCGCTTG
Celera SNP ID:            hCV11611432
SNP Position Transcript:  429
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1245, None   



Context             (SEQ ID NO:9766):
ACCGCGGCCGCCGCAGCCGGCGAAAGAGGCAAAGTCCCGCACGCCGGAGGACATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTC
S
AGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGC
Celera SNP ID:            hCV25620967
SNP Position Transcript:  264
SNP Source:               Applera
Population(Allele,Count): african american(C,16|G,12)   caucasian(C,26)   total(C,42|G,12)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1245, None



Context             (SEQ ID NO:9767):
AATGGACTAGGTTTGAATCTTGACTCCACCATTTGGTTATTGGTTACATGACATACAATATATAAATTATTTAACTTACCAATGCTTCCATTTTTCTTCC
R
TGAAATTGACATAGTAGCTGCACCTGCCTTATAACATTACTATGGAAATTAAATGAGGGATTGACTTATTACTCATAAAAGTAATTGAGGAGCCAGGCGC
Celera SNP ID:            hCV504618
SNP Position Transcript:  1829
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,11)      total(G,11|A,4) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1245, None   



Context             (SEQ ID NO:9768):
AAAATTTAAAAATTGCAAAAATTTATTTAAAATATAATATTGAACCAAAAGGCAATGATTATTTAAATACATTATGATGGATATTATAGATTTCACAAAA
R
TCATGTTTTTGAATGATATATATACATATAAAAGGCTCATGATAAGGTATTAATGGTTTTAAAAAGAAACATGTTAAGTGGTATAACCAGTATTATTTTT
Celera SNP ID:            hCV504619
SNP Position Transcript:  1570
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,10)   total(G,2|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1245, None   



Context             (SEQ ID NO:9769):
TGAAATTGACATAGTAGCTGCACCTGCCTTATAACATTACTATGGAAATTAAATGAGGGATTGACTTATTACTCATAAAAGTAATTGAGGAGCCAGGCGC
R
GTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGATGGGCAGATCACTAGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAATGCC
Celera SNP ID:            hCV26499595
SNP Position Transcript:  1930
SNP Source:               Celera
Population(Allele,Count): no_pop(A,7|G,9)   total(G,9|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1245, None   



Context             (SEQ ID NO:9770):
AACAAACAAAAAAAACATTTCCTTCGCTCCCCCTCCCTCTCCACTCTGAGAAGCAGAGGAGCCGCACGGCGAGGGGCCGCAGACCGTCTGGAAATGCGAA
K
CCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAGATT
Celera SNP ID:            hCV8951165
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(G,3|T,37)   total(G,6|T,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1245, 3, (S,AGC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,13)      total(G,1|T,13) ;JBIG-allele(G,356|T,741)   total(T,741|G,356)   no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1245, 3, (S,AGC)   (I,ATC)      3, (I,ATC)   (S,AGC)      



Context             (SEQ ID NO:9771):
CGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTC
W
CACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAAAAAAAACATTTCCTT
Celera SNP ID:            hCV25620956
SNP Position Transcript:  331
SNP Source:               Applera
Population(Allele,Count): african american(A,6|T,24)   caucasian(A,36|T,4)   total(A,42|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1245, None



Context             (SEQ ID NO:9772):
AGAGCGGCAGCCGCGCCCCTCCGCCCCCCGCGCGACCCCGGGTCCGAGGCACGCTCCCAGCGGAGCGGTCCTGCGCCCCCGCCCCCTCCAGG
M
GCCGCGGCGCGCACAGCCGGGCTGGAGCGCGCACCCGGCACTGAGGCTTCGCTGCTCTCGGAGCGCTCAGACCGCGGCCGCCGCAGCCGGCGAAAGAGGC
Celera SNP ID:            hCV8556712
SNP Position Transcript:  93
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|A,8)      total(A,8|C,2) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1245, None   



Context             (SEQ ID NO:9773):
ATGCGCCTCGGCTAGCGGCCCCGGGCCCCACCACCGTGCGGCTTTCTCCAGATTATTCCTCTCTCGCTGTCTCTGACTGTCTCTCTCTGTCTCTGTCTCT
S
TCTCTCTCTCTCTCACACACACACACACACACACAAACACACATACGCACGCACGATCTCACTTCGATCTATACACTGGAGGATTAAAACAAACAAACAA
Celera SNP ID:            hCV25620957
SNP Position Transcript:  316
SNP Source:               Applera
Population(Allele,Count): african american(C,12)   caucasian(C,8|G,6)   total(C,20|G,6)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1245, None



Context             (SEQ ID NO:9774):
GTTTTCTTACATGTCTAGAGAAAGTCTAAATTGGTAGACTTTCTGGGAAGCAGTTTGCTTGTTTTTATTAAGAATTTTAAATGATTTACACTAAATACCC
W
ACATTTAAATTTAAAGCCATTTAGTCTAAAAATTTAAAAATTGCAAAAATTTATTTAAAATATAATATTGAACCAAAAGGCAATGATTATTTAAATACAT
Celera SNP ID:            hCV504620
SNP Position Transcript:  1441
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|A,8)   total(A,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1245, None   



Gene Number:                 214
Celera Gene:                 hCG34338 - 146000219973357
Celera Transcript:           hCT25541 - 146000219973368
Public Transcript Accession: NM_030926
Celera Protein:              hCP46981 - 197000064941095
Public Protein Accession:    NP_112188
Gene Symbol:                 ITM2C
Protein Name:                integral membrane protein 2C;BRI3;BRICD2C;E25;E25C;HRPC.1050_D_4;ITM3;hRPC.1050_D_4
Celera Genomic Axis:         GA_x5YUV32VWPT(36420551..36434910)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:549):
GGCTGGGGGTGGGGTTAGAGAGAGGGACGCGAGCGGGATCCAAACTTCCGGTGCCTGCAGAGCTCGGAGCGGCGGAGGCAGAGACCGAGGCTGCACCGGC
AGAGGCTGCGGGGCGGACGCGCGGGCCGGCGCAGCCATGGTGAAGATTAGCTTCCAGCCCGCCGTGGCTGGCATCAAGGGCGACAAGGCTGACAAGGCGT
CGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGGRGCTCAGT
GGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTYCTTGCCTCAGCT
GGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAATCTAC
CTCGACGAGAACTACGAGCGCATCAACGTGCCTGTGCCCCAGTTTGGCGGCGGTGACCCTGCAGACATCATCCATGACTTCCAGCGGGGTCTGACTGCGT
ACCATGATATCTCCCTGGACAAGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAG
GGGGACCTACCTGCCGCAGACRTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGKTCCTTCATCTACCACYTG
TGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGAGA
ACACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCCRGCTGCTCTC
TGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCTGCCCACCTCCCTGTA
CCAGAGCTGTGATCTCTCGGTGGGGGGCCCATCTCTGCTGACCTGGGTGTGGCGGAGGGAGAGGCGATGCTGCAAAGTGTTTTCTGTGTCCCACTGTCTT
GAAGCTGGGCCTGCCAAAGCCTGGGCCCACAGCTGCACCGGCAGCCCAAGGGGAAGGACCGGTTGGGGGAGCCGGGCATGTGAGGCCCTGGGCAAGGGGA
TGGGGCTGTGGGGGCGGGGCGGCATGGGCTTCAGAAGTATCTGCACAATTAGAAAAGTCCTCAGAAGCTTTTTCTTGGAGGGTACACTTTCTTCACTGTC
CCTATTCCTAGACCTGGGGCTTGAGCTGAGGATGGGACGATGTGCCCAGGGAGGGACCCACCAGAGCACAAGAGAAGGTGGCTACCTGGGGGTGTCCCAG
GGACTCTGTCAGTGCCTTCAGCCCACCAGCAGGAGCTTGGAGTTTGGGGAGTGGGGATGAGTCCGTCAAGCACAACTGTTCTCTGAGTGGAACCAAAGAA
GCAAGGAGCTAGGACCCCCAGTCCTGCCCCCCAGGAGCACAAGCAGGGTCCCCTCAGTCAAGGCAGTGGGATGGGCGGCTGAGGAACGGGGCAGGCAAGG
TCACTGCTCAGTCACGTCCACGGGGGACGASCCGTGGGTTCTGCTGAGTAGGTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACA
CAGAGGGAAAGGGAGAGCCACCTGGTACTTGTCCACCCTGCCTCCTCTGTTYTGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTC
CTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCAGCCCTGAGCCTTGGAGAGGAGGGCTGTAACGCCTTCAGTCAGTCTCTG
GGGATGAAACTCTTAAATGCTTTGTATATTTTCTCAATTAGATCTCTTTTCAGAAGTGTCTATAGAACAATAAAAATCTTTTACTTCTGACCTTGACTTG
R

Protein Sequence    (SEQ ID NO:1246):
MSLHSSPTLPTSLYQSCDLSVGGPSLLTWVWRRERRCCKVFSVSHCLEAGPAKAWAHSCTGSPRGRTGWGSRACEALGKGMGLWGRGGMGFRSICTIRKV
LRSFFLEGTLSSLSLFLDLGLELRMGRCAQGGTHQSTREGGYLGVSQGLCQCLQPTSRSLEFGEWG


SNP Information

Context             (SEQ ID NO:9775):
TCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGG
K
TCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATG
Celera SNP ID:            hCV25973056
SNP Position Transcript:  782
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None



Context             (SEQ ID NO:9776):
GAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCAC
Y
TGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGA
Celera SNP ID:            hCV25973016
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None



Context             (SEQ ID NO:9777):
CAAGGCGTCGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGG
R
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
Celera SNP ID:            hCV2106502
SNP Position Transcript:  293
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,24)   caucasian(A,18|G,12)   total(A,28|G,36)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(G,405|A,1084)   total(G,405|A,1084)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None   



Context             (SEQ ID NO:9778):
GTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACACAGAGGGAAAGGGAGAGCCACCTGGTACTTGTCCACCCTGCCTCCTCTGTT
Y
TGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCA
Celera SNP ID:            hCV8698174
SNP Position Transcript:  1852
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1246, None   



Context             (SEQ ID NO:9779):
GGGGGGGCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTT
Y
CTTGCCTCAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGAT
Celera SNP ID:            hCV2106503
SNP Position Transcript:  388
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,11|T,17)   total(C,33|T,25)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None   



Context             (SEQ ID NO:9780):
CCAGGAGCACAAGCAGGGTCCCCTCAGTCAAGGCAGTGGGATGGGCGGCTGAGGAACGGGGCAGGCAAGGTCACTGCTCAGTCACGTCCACGGGGGACGA
S
CCGTGGGTTCTGCTGAGTAGGTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACACAGAGGGAAAGGGAGAGCCACCTGGTACTTG
Celera SNP ID:            hCV27501447
SNP Position Transcript:  1731
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1246, None   



Context             (SEQ ID NO:9781):
CACTTCGAGAACACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCC
R
GCTGCTCTCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCTGCCCAC
Celera SNP ID:            hCV25969414
SNP Position Transcript:  991
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,12)   total(A,4|G,40)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None



Context             (SEQ ID NO:9782):
AGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGAC
R
TACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACC
Celera SNP ID:            hCV25973570
SNP Position Transcript:  722
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1246, None



Gene Number:                 214
Celera Gene:                 hCG34338 - 146000219973357
Celera Transcript:           hCT2303770 - 146000219973378
Public Transcript Accession: NM_030926
Celera Protein:              hCP1808455 - 197000064941096
Public Protein Accession:    NP_112188
Gene Symbol:                 ITM2C
Protein Name:                integral membrane protein 2C;BRI3;BRICD2C;E25;E25C;HRPC.1050_D_4;ITM3;hRPC.1050_D_4
Celera Genomic Axis:         GA_x5YUV32VWPT(36420551..36434882)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:550):
GGCTGGGGGTGGGGTTAGAGAGAGGGACGCGAGCGGGATCCAAACTTCCGGTGCCTGCAGAGCTCGGAGCGGCGGAGGCAGAGACCGAGGCTGCACCGGC
AGAGGCTGCGGGGCGGACGCGCGGGCCGGCGCAGCCATGGTGAAGATTAGCTTCCAGCCCGCCGTGGCTGGCATCAAGGGCGACAAGGCTGACAAGGCGT
CGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGGRGCTCAGT
GGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTYCTTGCRCAGCTG
GCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAATCTACC
TCGACGAGAACTACGAGCGCATCAACGTGCCTGTGCCCCAGTTTGGCGGCGGTGACCCTGCAGACATCATCCATGACTTCCAGCGGAGGGGGACCTACCT
GCCGCAGACRTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGKTCCTTCATCTACCACYTGTGCAACGGGAAA
GACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGAGAACACCTTCGTGG
TGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCCRGCTGCTCTCTGGCCCTCCTCC
TTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTCCTCTGTTYTGAAATTCCATCC
CCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCAGCCCTGAGCCTTG
GAAATGCTTTGTATATTTTCTCAATTAGATCTCTTTTCAGAAGTGTCTATAGAACAATAA

Protein Sequence    (SEQ ID NO:1247):
MVKISFQPAVAGIKGDKADKASASAPAPASATEILLTPAREEQPPQHRSKRGGSVGGVCYLSMGMVVLLMGLVFASVYIYRYFFLAQLARDNFFRCGVLY
EDSLSSQVRTQMELEEDVKIYLDENYERINVPVPQFGGGDPADIIHDFQRRGTYLPQTYIIQEEMVVTEHVSDKEALGSFIYHLCNGKDTYRLRRRATRR
RINKRGAKNCNAIRHFENTFVVETLICGVV


SNP Information

Context             (SEQ ID NO:9783):
TCCATGACTTCCAGCGGAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGG
K
TCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATG
Celera SNP ID:            hCV25973056
SNP Position Transcript:  670
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 178, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:9784):
GAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCAC
Y
TGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGA
Celera SNP ID:            hCV25973016
SNP Position Transcript:  686
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 184, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:9785):
CAAGGCGTCGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGG
R
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
Celera SNP ID:            hCV2106502
SNP Position Transcript:  293
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,24)   caucasian(A,18|G,12)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1247, 53, (S,AGC)   (G,GGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(G,405|A,1084)   total(G,405|A,1084)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1247, 53, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9786):
GGGGGGGCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTT
Y
CTTGCGCAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATG
Celera SNP ID:            hCV2106503
SNP Position Transcript:  388
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,11|T,17)   total(C,33|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 84, (F,TTC)   (F,TTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 84, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:9787):
TCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTCCTCTGTT
Y
TGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCA
Celera SNP ID:            hCV8698174
SNP Position Transcript:  987
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1247, None   



Context             (SEQ ID NO:9788):
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
R
CAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAA
Celera SNP ID:            hCV2106504
SNP Position Transcript:  394
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,22)   caucasian(A,18|G,10)   total(A,28|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 86, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 86, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9789):
ACTACGAGCGCATCAACGTGCCTGTGCCCCAGTTTGGCGGCGGTGACCCTGCAGACATCATCCATGACTTCCAGCGGAGGGGGACCTACCTGCCGCAGAC
R
TACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACC
Celera SNP ID:            hCV25973570
SNP Position Transcript:  610
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1247, 158, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9790):
CACTTCGAGAACACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCC
R
GCTGCTCTCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTC
Celera SNP ID:            hCV25969414
SNP Position Transcript:  879
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,12)   total(A,4|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1247, None



Gene Number:                 214
Celera Gene:                 hCG34338 - 146000219973357
Celera Transcript:           hCT1961988 - 146000219973389
Public Transcript Accession: NM_030926
Celera Protein:              hCP1777498 - 197000064941097
Public Protein Accession:    NP_112188
Gene Symbol:                 ITM2C
Protein Name:                integral membrane protein 2C;BRI3;BRICD2C;E25;E25C;HRPC.1050_D_4;ITM3;hRPC.1050_D_4
Celera Genomic Axis:         GA_x5YUV32VWPT(36420551..36434882)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:551):
GGCTGGGGGTGGGGTTAGAGAGAGGGACGCGAGCGGGATCCAAACTTCCGGTGCCTGCAGAGCTCGGAGCGGCGGAGGCAGAGACCGAGGCTGCACCGGC
AGAGGCTGCGGGGCGGACGCGCGGGCCGGCGCAGCCATGGTGAAGATTAGCTTCCAGCCCGCCGTGGCTGGCATCAAGGGCGACAAGGCTGACAAGGCGT
CGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGGRGCTCAGT
GGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTYCTTGCRCAGCTG
GCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAATCTACC
TCGACGAGAACTACGAGCGCATCAACGTGCCTGTGCCCCAGTTTGGCGGCGGTGACCCTGCAGACATCATCCATGACTTCCAGCGGGGTCTGACTGCGTA
CCATGATATCTCCCTGGACAAGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAGG
GGGACCTACCTGCCGCAGACRTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGKTCCTTCATCTACCACYTGT
GCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGAGAA
CACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCCRGCTGCTCTCT
GGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTCCTCTGTTYTG
AAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCAGC
CCTGAGCCTTGGAAATGCTTTGTATATTTTCTCAATTAGATCTCTTTTCAGAAGTGTCTATAGAACAATAA

Protein Sequence    (SEQ ID NO:1248):
MVKISFQPAVAGIKGDKADKASASAPAPASATEILLTPAREEQPPQHRSKRGGSVGGVCYLSMGMVVLLMGLVFASVYIYRYFFLAQLARDNFFRCGVLY
EDSLSSQVRTQMELEEDVKIYLDENYERINVPVPQFGGGDPADIIHDFQRGLTAYHDISLDKCYVIELNTTIVLPPRNFWELLMNVKRGTYLPQTYIIQE
EMVVTEHVSDKEALGSFIYHLCNGKDTYRLRRRATRRRINKRGAKNCNAIRHFENTFVVETLICGVV


SNP Information

Context             (SEQ ID NO:9791):
TCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGG
K
TCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATG
Celera SNP ID:            hCV25973056
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 215, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:9792):
GAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCAC
Y
TGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGA
Celera SNP ID:            hCV25973016
SNP Position Transcript:  797
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 221, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:9793):
CAAGGCGTCGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGG
R
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
Celera SNP ID:            hCV2106502
SNP Position Transcript:  293
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,24)   caucasian(A,18|G,12)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1248, 53, (S,AGC)   (G,GGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(G,405|A,1084)   total(G,405|A,1084)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1248, 53, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9794):
GGGGGGGCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTT
Y
CTTGCGCAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATG
Celera SNP ID:            hCV2106503
SNP Position Transcript:  388
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,11|T,17)   total(C,33|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 84, (F,TTC)   (F,TTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 84, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:9795):
TCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTCCTCTGTT
Y
TGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCA
Celera SNP ID:            hCV8698174
SNP Position Transcript:  1098
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1248, None   



Context             (SEQ ID NO:9796):
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
R
CAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAA
Celera SNP ID:            hCV2106504
SNP Position Transcript:  394
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,22)   caucasian(A,18|G,10)   total(A,28|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 86, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 86, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9797):
AGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGAC
R
TACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACC
Celera SNP ID:            hCV25973570
SNP Position Transcript:  721
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1248, 195, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9798):
CACTTCGAGAACACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCC
R
GCTGCTCTCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCCTGCCTC
Celera SNP ID:            hCV25969414
SNP Position Transcript:  990
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,12)   total(A,4|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1248, None



Gene Number:                 214
Celera Gene:                 hCG34338 - 146000219973357
Celera Transcript:           hCT1961989 - 146000219973358
Public Transcript Accession: NM_030926
Celera Protein:              hCP1777502 - 197000064941094
Public Protein Accession:    NP_112188
Gene Symbol:                 ITM2C
Protein Name:                integral membrane protein 2C;BRI3;BRICD2C;E25;E25C;HRPC.1050_D_4;ITM3;hRPC.1050_D_4
Celera Genomic Axis:         GA_x5YUV32VWPT(36420551..36434910)
Chromosome:                  Chr2
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:552):
GGCTGGGGGTGGGGTTAGAGAGAGGGACGCGAGCGGGATCCAAACTTCCGGTGCCTGCAGAGCTCGGAGCGGCGGAGGCAGAGACCGAGGCTGCACCGGC
AGAGGCTGCGGGGCGGACGCGCGGGCCGGCGCAGCCATGGTGAAGATTAGCTTCCAGCCCGCCGTGGCTGGCATCAAGGGCGACAAGGCTGACAAGGCGT
CGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGGRGCTCAGT
GGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTYCTTGCRCAGCTG
GCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAATCTACC
TCGACGAGAACTACGAGCGCATCAACGTGCCTGTGCCCCAGTTTGGCGGCGGTGACCCTGCAGACATCATCCATGACTTCCAGCGGGGTCTGACTGCGTA
CCATGATATCTCCCTGGACAAGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAGG
GGGACCTACCTGCCGCAGACRTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGKTCCTTCATCTACCACYTGT
GCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGAGAA
CACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCCRGCTGCTCTCT
GGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCTGCCCACCTCCCTGTAC
CAGAGCTGTGATCTCTCGGTGGGGGGCCCATCTCTGCTGACCTGGGTGTGGCGGAGGGAGAGGCGATGCTGCAAAGTGTTTTCTGTGTCCCACTGTCTTG
AAGCTGGGCCTGCCAAAGCCTGGGCCCACAGCTGCACCGGCAGCCCAAGGGGAAGGACCGGTTGGGGGAGCCGGGCATGTGAGGCCCTGGGCAAGGGGAT
GGGGCTGTGGGGGCGGGGCGGCATGGGCTTCAGAAGTATCTGCACAATTAGAAAAGTCCTCAGAAGCTTTTTCTTGGAGGGTACACTTTCTTCACTGTCC
CTATTCCTAGACCTGGGGCTTGAGCTGAGGATGGGACGATGTGCCCAGGGAGGGACCCACCAGAGCACAAGAGAAGGTGGCTACCTGGGGGTGTCCCAGG
GACTCTGTCAGTGCCTTCAGCCCACCAGCAGGAGCTTGGAGTTTGGGGAGTGGGGATGAGTCCGTCAAGCACAACTGTTCTCTGAGTGGAACCAAAGAAG
CAAGGAGCTAGGACCCCCAGTCCTGCCCCCCAGGAGCACAAGCAGGGTCCCCTCAGTCAAGGCAGTGGGATGGGCGGCTGAGGAACGGGGCAGGCAAGGT
CACTGCTCAGTCACGTCCACGGGGGACGASCCGTGGGTTCTGCTGAGTAGGTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACAC
AGAGGGAAAGGGAGAGCCACCTGGTACTTGTCCACCCTGCCTCCTCTGTTYTGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCC
TTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCAGCCCTGAGCCTTGGAGAGGAGGGCTGTAACGCCTTCAGTCAGTCTCTGG
GGATGAAACTCTTAAATGCTTTGTATATTTTCTCAATTAGATCTCTTTTCAGAAGTGTCTATAGAACAATAAAAATCTTTTACTTCTGACCTTGACTTGA

Protein Sequence    (SEQ ID NO:1249):
MVKISFQPAVAGIKGDKADKASASAPAPASATEILLTPAREEQPPQHRSKRGGSVGGVCYLSMGMVVLLMGLVFASVYIYRYFFLAQLARDNFFRCGVLY
EDSLSSQVRTQMELEEDVKIYLDENYERINVPVPQFGGGDPADIIHDFQRGLTAYHDISLDKCYVIELNTTIVLPPRNFWELLMNVKRGTYLPQTYIIQE
EMVVTEHVSDKEALGSFIYHLCNGKDTYRLRRRATRRRINKRGAKNCNAIRHFENTFVVETLICGVV


SNP Information

Context             (SEQ ID NO:9799):
TCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGG
K
TCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATG
Celera SNP ID:            hCV25973056
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,40)   total(G,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 215, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:9800):
GAGGGGGACCTACCTGCCGCAGACGTACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCAC
Y
TGTGCAACGGGAAAGACACCTACCGGCTCCGGCGCCGGGCAACGCGGAGGCGGATCAACAAGCGTGGGGCCAAGAACTGCAATGCCATCCGCCACTTCGA
Celera SNP ID:            hCV25973016
SNP Position Transcript:  797
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 221, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:9801):
CAAGGCGTCGGCGTCGGCCCCTGCGCCGGCCTCGGCCACCGAGATCCTGCTGACGCCGGCTAGGGAGGAGCAGCCCCCACAACATCGATCCAAGAGGGGG
R
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
Celera SNP ID:            hCV2106502
SNP Position Transcript:  293
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,24)   caucasian(A,18|G,12)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1249, 53, (S,AGC)   (G,GGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;JBIC-allele(G,405|A,1084)   total(G,405|A,1084)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1249, 53, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9802):
GGGGGGGCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTT
Y
CTTGCGCAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATG
Celera SNP ID:            hCV2106503
SNP Position Transcript:  388
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,8)   caucasian(C,11|T,17)   total(C,33|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 84, (F,TTC)   (F,TTT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 84, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:9803):
GTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACACAGAGGGAAAGGGAGAGCCACCTGGTACTTGTCCACCCTGCCTCCTCTGTT
Y
TGAAATTCCATCCCCCTCAGCTTAGGGGAATGCACCTTTTTCCCTTTCCTTCTCACTTTTGCATGTTTTTACTGATCATTCGATATGCTAACCGTTCTCA
Celera SNP ID:            hCV8698174
SNP Position Transcript:  1851
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1249, None   



Context             (SEQ ID NO:9804):
GCTCAGTGGGCGGCGTGTGCTACCTGTCGATGGGCATGGTCGTGCTGCTCATGGGCCTCGTGTTCGCCTCTGTCTACATCTACAGATACTTCTTCCTTGC
R
CAGCTGGCCCGAGATAACTTCTTCCGCTGTGGTGTGCTGTATGAGGACTCCCTGTCCTCCCAGGTCCGGACTCAGATGGAGCTGGAAGAGGATGTGAAAA
Celera SNP ID:            hCV2106504
SNP Position Transcript:  394
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,22)   caucasian(A,18|G,10)   total(A,28|G,32)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 86, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 86, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:9805):
AGTGCTATGTCATCGAACTCAACACCACCATTGTGCTGCCCCCTCGCAACTTCTGGGAGCTCCTCATGAACGTGAAGAGGGGGACCTACCTGCCGCAGAC
R
TACATCATCCAGGAGGAGATGGTGGTCACGGAGCATGTCAGTGACAAGGAGGCCCTGGGGTCCTTCATCTACCACCTGTGCAACGGGAAAGACACCTACC
Celera SNP ID:            hCV25973570
SNP Position Transcript:  721
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1249, 195, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9806):
CCAGGAGCACAAGCAGGGTCCCCTCAGTCAAGGCAGTGGGATGGGCGGCTGAGGAACGGGGCAGGCAAGGTCACTGCTCAGTCACGTCCACGGGGGACGA
S
CCGTGGGTTCTGCTGAGTAGGTGGAGCTCATTGCTTTCTCCAAGCTTGGAACTGTTTTGAAAGATAACACAGAGGGAAAGGGAGAGCCACCTGGTACTTG
Celera SNP ID:            hCV27501447
SNP Position Transcript:  1730
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1249, None   



Context             (SEQ ID NO:9807):
CACTTCGAGAACACCTTCGTGGTGGAGACGCTCATCTGCGGGGTGGTGTGAGGCCCTCCTCCCCCAGAACCCCCTGCCGTGTTCCTCTTTTCTTCTTTCC
R
GCTGCTCTCTGGCCCTCCTCCTTCCCCCTGCTTAGCTTGTACTTTGGACGCGTTTCTATAGAGGTGACATGTCTCTCCATTCCTCTCCAACCCTGCCCAC
Celera SNP ID:            hCV25969414
SNP Position Transcript:  990
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(G,12)   total(A,4|G,40)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1249, None



Gene Number:                 215
Celera Gene:                 hCG34446 - 117000147037289
Celera Transcript:           hCT2255068 - 117000147037311
Public Transcript Accession: NM_012445
Celera Protein:              hCP1865684 - 197000069388818
Public Protein Accession:    NP_036577
Gene Symbol:                 SPON2
Protein Name:                spondin 2, extracellular matrix protein;DIL-1;DIL1
Celera Genomic Axis:         GA_x5YUV32W0YB(7946040..7951943)
Chromosome:                  Chr4
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:553):
AAAGGGGTGCGGCAGCACTGCCAGGGGAAGAGGGTGATCCGACCCGGGGAAGGTCGCTGGGCAGGGCGAGTTGGGAAAGCGGCAGCCCCCGCCGCCCCCG
CAGCCCCTTCTCCTCCTTTCTCCCACGTCCTATCTGCCTCTCGCTGGAGGCCAGGCCGTGCAGCATCGAAGACAGGAGGAACTGGAGCCTCATTGGCCGG
CCCGGGGCGCCGGCCTCGGGCTTAAATAGGAGCTCCGGGCTCTGGCTGGGACCCGACCGCTGCCGGCCGCGCTCCCGCTGCTCCTGCCGGGTGATGGAAA
ACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGARTCCATCTGTTC
CGCCRGAGCCCYGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGG
TCTTCGCTGCTGGGGGCCGCGCATAGCTCCGACTACAGCATGTGGAGGAAGAACCAGTACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGG
CCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACGMGGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGAC
GTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATCGTGCCCAGCCCCGACTGGTTCGTGGGCGTGGACAGCCTGGAC
CTGTGCGACGGGGACCGTTGGCGGGAACAGGCGGCGCTGGACCTGTACCCCTACGACGCCGGGACGGACAGCGGCTTCACCTTCTCCTCCCCCAACTTCG
CCACCATCCCGCAGGACACGGTGACCGAGGTGAGTGGGCACCCCGCGTGCGCAAGGGCCGCTATGGCCCCCGCGGTGGGGACGGGGCTGGGGCCTGGCTG
CACCCTCGCCTCCCAGCCCAGGACAGCCGCTTGCGGCTTTTGTGTGGAAGAGGCTCTGCTTCTAGCGCCAGCAGTGAGCAAGGGGGTGCAGCCCTCCCAT
ACTCTCCCAACCCGGGGTCACAGCACCGCAGGGAGGACAGCGGGACGCGCGTCCCGAGGAGGCCGCCCCTTCCTGGCCTCGGTTTCCAGCCCGTGTTCCG
TGGGATGRCTGAGAGGAGTACATGGGACCCTGTCCCCAACAGTGGTGCAGAGGGCACGCTGGACGCTGGGCAGTGGCCCCAGTGAGGCCATACGCATACC
AGAAGGTGGGCTTCTCGGACCCCAGGCCAACCTCCTCTTCTTCCTCCCCAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGC
GGCTGAARGCCCTGCCTCCCATCGCCAGGGTGACACTGSTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGA
CAATGAGATTGTAGACAGCGCCTCAGTTCCAGAAACGCCGCTGGACTGCGAGGTCTCCCTGTGGTCGTCCTGGGGACTGTGCGGAGGCCACTGTGGGAGG
CTCGGGACCAAGAGCAGGACTCGCTACGTCCGGGTCCAGCCCGCCAACAACGGGAGCCCCTGCCCCGAGCTCGAAGAAGAGGCTGAGTGCGTCCCTGATA
ACTGCGTCTAAGACCAGAGCCCCGCAGCCCCTRGGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCATRCTGCAGGCGGCCGAGGGCA
CAGGGGGTTTCGCGCTGCTCCTGACCGCGGTGAGGCCGCGCCGACCATCTCTGCACTGAAGGGCCCTCTGGTGGCCGGCACGGGCATTGGGAAACAGCCT
CCTCCTTTCCCAACCTTGCTTCTTAGGGGCCCCCGTGTCCCGTCTGCTCTCAGCCTCCTCCTCCTGCAGGATAAAGTCATCCCCAAGGCTCCAGCTACTC
TAAATTATGTCTCCTTATAAGTTATTGCTGCTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTG
CTYTAGGCTGTGCTGAGCCCACTCTCCCGAGGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCA
TGTTATGGATCTCTCTGCGTTTGAATAAAGACTATCTCTGTTGCTCACAAAT

Protein Sequence    (SEQ ID NO:1250):
MENPSPAAALGKALCALLLATLGAAGQPLGGESICSARAPAKYSITFTGKWSQTAFPKQYPLFRPPAQWSSLLGAAHSSDYSMWRKNQYVSNGLRDFAER
GEAWALMKEIEAAGEALQSVHAVFSAPAVPSGTGQTSAELEVQRRHSLVSFVVRIVPSPDWFVGVDSLDLCDGDRWREQAALDLYPYDAGTDSGFTFSSP
NFATIPQDTVTEVSGHPACARAAMAPAVGTGLGPGCTLASQPRTAACGFCVEEALLLAPAVSKGVQPSHTLPTRGHSTAGRTAGRASRGGRPFLASVSSP
CSVGWLRGVHGTLSPTVVQRARWTLGSGPSEAIRIPEGGLLGPQANLLFFLPR


SNP Information

Context             (SEQ ID NO:9808):
GGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGCCCCGCAGCCCCTGGGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCAT
R
CTGCAGGCGGCCGAGGGCACAGGGGGTTTCGCGCTGCTCCTGACCGCGGTGAGGCCGCGCCGACCATCTCTGCACTGAAGGGCCCTCTGGTGGCCGGCAC
Celera SNP ID:            hCV1161342
SNP Position Transcript:  1781
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None   



Context             (SEQ ID NO:9809):
GGGCTTCTCGGACCCCAGGCCAACCTCCTCTTCTTCCTCCCCAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAA
R
GCCCTGCCTCCCATCGCCAGGGTGACACTGCTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGA
Celera SNP ID:            hCV25615573
SNP Position Transcript:  1408
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   caucasian(G,38)   total(A,2|G,64)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None   



Context             (SEQ ID NO:9810):
TACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGGCCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACG
M
GGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGACGTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATC
Celera SNP ID:            hCV1161337
SNP Position Transcript:  658
SNP Source:               Celera
Population(Allele,Count): Caucasian(C,121|A,191)   Chinese(C,22|A,30)   Japanese(C,6|A,14)   African(A,29|C,69)   total(A,264|C,218)no_pop(C,2|A,3)   total(A,3|C,2)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 122, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:9811):
GGTCCAGCCCGCCAACAACGGGAGCCCCTGCCCCGAGCTCGAAGAAGAGGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGCCCCGCAGCCCCT
R
GGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCATGCTGCAGGCGGCCGAGGGCACAGGGGGTTTCGCGCTGCTCCTGACCGCGGTGA
Celera SNP ID:            hCV25922008
SNP Position Transcript:  1733
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None



Context             (SEQ ID NO:9812):
CAACCCGGGGTCACAGCACCGCAGGGAGGACAGCGGGACGCGCGTCCCGAGGAGGCCGCCCCTTCCTGGCCTCGGTTTCCAGCCCGTGTTCCGTGGGATG
R
CTGAGAGGAGTACATGGGACCCTGTCCCCAACAGTGGTGCAGAGGGCACGCTGGACGCTGGGCAGTGGCCCCAGTGAGGCCATACGCATACCAGAAGGTG
Celera SNP ID:            hCV1161338
SNP Position Transcript:  1208
SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|A,3)   total(G,3|A,3) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 305, (X,TGA)   (W,TGG)      



Context             (SEQ ID NO:9813):
TCTTCCTCCCCAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAAGGCCCTGCCTCCCATCGCCAGGGTGACACTG
S
TGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGATTGTAGACAGCGCCTCAGTTCCAGAAACGCC
Celera SNP ID:            hCV22273366
SNP Position Transcript:  1439
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,18)   caucasian(C,24|G,14)   total(C,34|G,32)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   JBIC-allele(G,428|C,1055)   total(G,428|C,1055) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None   



Context             (SEQ ID NO:9814):
CAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCC
R
GAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTC
Celera SNP ID:            hCV22275550
SNP Position Transcript:  405
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,5)   caucasian(A,32|G,6)   total(A,59|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 38, (R,AGA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 38, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:9815):
AATTATGTCTCCTTATAAGTTATTGCTGCTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTGCT
Y
TAGGCTGTGCTGAGCCCACTCTCCCGAGGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCATGT
Celera SNP ID:            hCV9657774
SNP Position Transcript:  2103
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1250, None   



Context             (SEQ ID NO:9816):
GCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCCAGAGCCC
Y
GGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTCGCTGCTG
Celera SNP ID:            hCV9657775
SNP Position Transcript:  412
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,38)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 40, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_C(T,0|C,23)   SC_12_AA(T,1|C,19)   SC_95_C(T,5|C,178)   total(C,220|T,6)no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1250, 40, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:9817):
GGGTGATGGAAAACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGA
R
TCCATCTGTTCCGCCAGAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCC
Celera SNP ID:            hCV25615571
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,3|G,33)   total(A,8|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1250, 32, (E,GAA)   (E,GAG)   



Gene Number:                 215
Celera Gene:                 hCG34446 - 117000147037289
Celera Transcript:           hCT25651 - 117000147037290
Public Transcript Accession: NM_012445
Celera Protein:              hCP46995 - 197000069388816
Public Protein Accession:    NP_036577
Gene Symbol:                 SPON2
Protein Name:                spondin 2, extracellular matrix protein;DIL-1;DIL1
Celera Genomic Axis:         GA_x5YUV32W0YB(7946040..7951943)
Chromosome:                  Chr4
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:554):
AAAGGGGTGCGGCAGCACTGCCAGGGGAAGAGGGTGATCCGACCCGGGGAAGGTCGCTGGGCAGGGCGAGTTGGGAAAGCGGCAGCCCCCGCCGCCCCCG
CAGCCCCTTCTCCTCCTTTCTCCCACGTCCTATCTGCCTCTCGCTGGAGGCCAGGCCGTGCAGCATCGAAGACAGGAGGAACTGGAGCCTCATTGGCCGG
CCCGGGGCGCCGGCCTCGGGCTTAAATAGGAGCTCCGGGCTCTGGCTGGGACCCGACCGCTGCCGGCCGCGCTCCCGCTGCTCCTGCCGGGTGATGGAAA
ACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGARTCCATCTGTTC
CGCCRGAGCCCYGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGG
TCTTCGCTGCTGGGGGCCGCGCATAGCTCCGACTACAGCATGTGGAGGAAGAACCAGTACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGG
CCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACGMGGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGAC
GTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATCGTGCCCAGCCCCGACTGGTTCGTGGGCGTGGACAGCCTGGAC
CTGTGCGACGGGGACCGTTGGCGGGAACAGGCGGCGCTGGACCTGTACCCCTACGACGCCGGGACGGACAGCGGCTTCACCTTCTCCTCCCCCAACTTCG
CCACCATCCCGCAGGACACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAARGCCCTGCCTCCCAT
CGCCAGGGTGACACTGSTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGATTGTAGACAGCGCC
TCAGTTCCAGAAACGCCGCTGGACTGCGAGGTCTCCCTGTGGTCGTCCTGGGGACTGTGCGGAGGCCACTGTGGGAGGCTCGGGACCAAGAGCAGGACTC
GCTACGTCCGGGTCCAGCCCGCCAACAACGGGAGCCCCTGCCCCGAGCTCGAAGAAGAGGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGCCC
CGCAGCCCCTRGGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCATRCTGCAGGCGGCCGAGGGCACAGGGGGTTTCGCGCTGCTCCT
GACCGCGGTGAGGCCGCGCCGACCATCTCTGCACTGAAGGGCCCTCTGGTGGCCGGCACGGGCATTGGGAAACAGCCTCCTCCTTTCCCAACCTTGCTTC
TTAGGGGCCCCCGTGTCCCGTCTGCTCTCAGCCTCCTCCTCCTGCAGGATAAAGTCATCCCCAAGGCTCCAGCTACTCTAAATTATGTCTCCTTATAAGT
TATTGCTGCTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTGCTYTAGGCTGTGCTGAGCCCAC
TCTCCCGAGGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCATGTTATGGATCTCTCTGCGTTT
GAATAAAGACTATCTCTGTTGCTCACAAAT

Protein Sequence    (SEQ ID NO:1251):
MENPSPAAALGKALCALLLATLGAAGQPLGGESICSARAPAKYSITFTGKWSQTAFPKQYPLFRPPAQWSSLLGAAHSSDYSMWRKNQYVSNGLRDFAER
GEAWALMKEIEAAGEALQSVHAVFSAPAVPSGTGQTSAELEVQRRHSLVSFVVRIVPSPDWFVGVDSLDLCDGDRWREQAALDLYPYDAGTDSGFTFSSP
NFATIPQDTVTEITSSSPSHPANSFYYPRLKALPPIARVTLLRLRQSPRAFIPPAPVLPSRDNEIVDSASVPETPLDCEVSLWSSWGLCGGHCGRLGTKS
RTRYVRVQPANNGSPCPELEEEAECVPDNCV


SNP Information

Context             (SEQ ID NO:9818):
GGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGCCCCGCAGCCCCTGGGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCAT
R
CTGCAGGCGGCCGAGGGCACAGGGGGTTTCGCGCTGCTCCTGACCGCGGTGAGGCCGCGCCGACCATCTCTGCACTGAAGGGCCCTCTGGTGGCCGGCAC
Celera SNP ID:            hCV1161342
SNP Position Transcript:  1359
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1251, None   



Context             (SEQ ID NO:9819):
CCTCCCCCAACTTCGCCACCATCCCGCAGGACACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAA
R
GCCCTGCCTCCCATCGCCAGGGTGACACTGCTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGA
Celera SNP ID:            hCV25615573
SNP Position Transcript:  986
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   caucasian(G,38)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1251, 231, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1251, 231, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:9820):
TACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGGCCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACG
M
GGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGACGTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATC
Celera SNP ID:            hCV1161337
SNP Position Transcript:  658
SNP Source:               Celera
Population(Allele,Count): Caucasian(C,121|A,191)   Chinese(C,22|A,30)   Japanese(C,6|A,14)   African(A,29|C,69)   total(A,264|C,218)no_pop(C,2|A,3)   total(A,3|C,2)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 122, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:9821):
GGTCCAGCCCGCCAACAACGGGAGCCCCTGCCCCGAGCTCGAAGAAGAGGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGCCCCGCAGCCCCT
R
GGGCCCCCCGGAGCCATGGGGTGTCGGGGGCTCCTGTGCAGGCTCATGCTGCAGGCGGCCGAGGGCACAGGGGGTTTCGCGCTGCTCCTGACCGCGGTGA
Celera SNP ID:            hCV25922008
SNP Position Transcript:  1311
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(G,36)   total(A,1|G,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1251, None



Context             (SEQ ID NO:9822):
CACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAAGGCCCTGCCTCCCATCGCCAGGGTGACACTG
S
TGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGATTGTAGACAGCGCCTCAGTTCCAGAAACGCC
Celera SNP ID:            hCV22273366
SNP Position Transcript:  1017
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,18)   caucasian(C,24|G,14)   total(C,34|G,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 242, (L,CTG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   JBIC-allele(G,428|C,1055)   total(G,428|C,1055) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 242, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:9823):
CAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCC
R
GAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTC
Celera SNP ID:            hCV22275550
SNP Position Transcript:  405
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,5)   caucasian(A,32|G,6)   total(A,59|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 38, (R,AGA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 38, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:9824):
AATTATGTCTCCTTATAAGTTATTGCTGCTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTGCT
Y
TAGGCTGTGCTGAGCCCACTCTCCCGAGGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCATGT
Celera SNP ID:            hCV9657774
SNP Position Transcript:  1681
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1251, None   



Context             (SEQ ID NO:9825):
GCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCCAGAGCCC
Y
GGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTCGCTGCTG
Celera SNP ID:            hCV9657775
SNP Position Transcript:  412
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,38)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 40, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_C(T,0|C,23)   SC_12_AA(T,1|C,19)   SC_95_C(T,5|C,178)   total(C,220|T,6)no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1251, 40, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:9826):
GGGTGATGGAAAACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGA
R
TCCATCTGTTCCGCCAGAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCC
Celera SNP ID:            hCV25615571
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,3|G,33)   total(A,8|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1251, 32, (E,GAA)   (E,GAG)   



Gene Number:                 215
Celera Gene:                 hCG34446 - 117000147037289
Celera Transcript:           hCT2255065 - 117000147037300
Public Transcript Accession: NM_012445
Celera Protein:              hCP1865683 - 197000069388817
Public Protein Accession:    NP_036577
Gene Symbol:                 SPON2
Protein Name:                spondin 2, extracellular matrix protein;DIL-1;DIL1
Celera Genomic Axis:         GA_x5YUV32W0YB(7946040..7951943)
Chromosome:                  Chr4
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:555):
AAAGGGGTGCGGCAGCACTGCCAGGGGAAGAGGGTGATCCGACCCGGGGAAGGTCGCTGGGCAGGGCGAGTTGGGAAAGCGGCAGCCCCCGCCGCCCCCG
CAGCCCCTTCTCCTCCTTTCTCCCACGTCCTATCTGCCTCTCGCTGGAGGCCAGGCCGTGCAGCATCGAAGACAGGAGGAACTGGAGCCTCATTGGCCGG
CCCGGGGCGCCGGCCTCGGGCTTAAATAGGAGCTCCGGGCTCTGGCTGGGACCCGACCGCTGCCGGCCGCGCTCCCGCTGCTCCTGCCGGGTGATGGAAA
ACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGARTCCATCTGTTC
CGCCRGAGCCCYGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGG
TCTTCGCTGCTGGGGGCCGCGCATAGCTCCGACTACAGCATGTGGAGGAAGAACCAGTACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGG
CCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACGMGGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGAC
GTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATCGTGCCCAGCCCCGACTGGTTCGTGGGCGTGGACAGCCTGGAC
CTGTGCGACGGGGACCGTTGGCGGGAACAGGCGGCGCTGGACCTGTACCCCTACGACGCCGGGACGGACAGCGGCTTCACCTTCTCCTCCCCCAACTTCG
CCACCATCCCGCAGGACACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAARGCCCTGCCTCCCAT
CGCCAGGGTGACACTGSTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGATTGTAGACAGCGCC
TCAGTTCCAGAAACGCCGCTGGACTGCGAGGTCTCCCTGTGGTCGTCCTGGGGACTGTGCGGAGGCCACTGTGGGAGGCTCGGGACCAAGAGCAGGACTC
GCTACGTCCGGGTCCAGCCCGCCAACAACGGGAGCCCCTGCCCCGAGCTCGAAGAAGAGGCTGAGTGCGTCCCTGATAACTGCGTCTAAGACCAGAGGGC
CCCCGTGTCCCGTCTGCTCTCAGCCTCCTCCTCCTGCAGGATAAAGTCATCCCCAAGGCTCCAGCTACTCTAAATTATGTCTCCTTATAAGTTATTGCTG
CTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTGCTYTAGGCTGTGCTGAGCCCACTCTCCCGA
GGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCATGTTATGGATCTCTCTGCGTTTGAATAAAG
ACTATCTCTGTTGCTCACAAAT

Protein Sequence    (SEQ ID NO:1252):
MENPSPAAALGKALCALLLATLGAAGQPLGGESICSARAPAKYSITFTGKWSQTAFPKQYPLFRPPAQWSSLLGAAHSSDYSMWRKNQYVSNGLRDFAER
GEAWALMKEIEAAGEALQSVHAVFSAPAVPSGTGQTSAELEVQRRHSLVSFVVRIVPSPDWFVGVDSLDLCDGDRWREQAALDLYPYDAGTDSGFTFSSP
NFATIPQDTVTEITSSSPSHPANSFYYPRLKALPPIARVTLLRLRQSPRAFIPPAPVLPSRDNEIVDSASVPETPLDCEVSLWSSWGLCGGHCGRLGTKS
RTRYVRVQPANNGSPCPELEEEAECVPDNCV


SNP Information

Context             (SEQ ID NO:9827):
CCTCCCCCAACTTCGCCACCATCCCGCAGGACACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAA
R
GCCCTGCCTCCCATCGCCAGGGTGACACTGCTGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGA
Celera SNP ID:            hCV25615573
SNP Position Transcript:  986
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,26)   caucasian(G,38)   total(A,2|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1252, 231, (K,AAA)   (K,AAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1252, 231, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:9828):
CAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCC
R
GAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTC
Celera SNP ID:            hCV22275550
SNP Position Transcript:  405
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,5)   caucasian(A,32|G,6)   total(A,59|G,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 38, (R,AGA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 38, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:9829):
TACGTCAGTAACGGGCTGCGCGACTTTGCGGAGCGCGGCGAGGCCTGGGCGCTGATGAAGGAGATCGAGGCGGCGGGGGAGGCGCTGCAGAGCGTGCACG
M
GGTGTTTTCGGCGCCCGCCGTCCCCAGCGGCACCGGGCAGACGTCGGCGGAGCTGGAGGTGCAGCGCAGGCACTCGCTGGTCTCGTTTGTGGTGCGCATC
Celera SNP ID:            hCV1161337
SNP Position Transcript:  658
SNP Source:               Celera
Population(Allele,Count): Caucasian(C,121|A,191)   Chinese(C,22|A,30)   Japanese(C,6|A,14)   African(A,29|C,69)   total(A,264|C,218)no_pop(C,2|A,3)   total(A,3|C,2)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 122, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:9830):
CACGGTGACCGAGATAACGTCCTCCTCTCCCAGCCACCCGGCCAACTCCTTCTACTACCCGCGGCTGAAGGCCCTGCCTCCCATCGCCAGGGTGACACTG
S
TGCGGCTGCGACAGAGCCCCAGGGCCTTCATCCCTCCCGCCCCAGTCCTGCCCAGCAGGGACAATGAGATTGTAGACAGCGCCTCAGTTCCAGAAACGCC
Celera SNP ID:            hCV22273366
SNP Position Transcript:  1017
SNP Source:               Applera
Population(Allele,Count): african american(C,10|G,18)   caucasian(C,24|G,14)   total(C,34|G,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 242, (L,CTG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   JBIC-allele(G,428|C,1055)   total(G,428|C,1055) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 242, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:9831):
AATTATGTCTCCTTATAAGTTATTGCTGCTCCAGGAGATTGTCCTTCATCGTCCAGGGGCCTGGCTCCCACGTGGTTGCAGATACCTCAGACCTGGTGCT
Y
TAGGCTGTGCTGAGCCCACTCTCCCGAGGGCGCATCCAAGCGGGGGCCACTTGAGAAGTGAATAAATGGGGCGGTTTCGGAAGCGTCAGTGTTTCCATGT
Celera SNP ID:            hCV9657774
SNP Position Transcript:  1473
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1252, None   



Context             (SEQ ID NO:9832):
GCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGAGTCCATCTGTTCCGCCAGAGCCC
Y
GGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCCCTGCGCAGTGGTCTTCGCTGCTG
Celera SNP ID:            hCV9657775
SNP Position Transcript:  412
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,38)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 40, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): SC_12_C(T,0|C,23)   SC_12_AA(T,1|C,19)   SC_95_C(T,5|C,178)   total(C,220|T,6)no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1252, 40, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:9833):
GGGTGATGGAAAACCCCAGCCCGGCCGCCGCCCTGGGCAAGGCCCTCTGCGCTCTCCTCCTGGCCACTCTCGGCGCCGCCGGCCAGCCTCTTGGGGGAGA
R
TCCATCTGTTCCGCCAGAGCCCCGGCCAAATACAGCATCACCTTCACGGGCAAGTGGAGCCAGACGGCCTTCCCCAAGCAGTACCCCCTGTTCCGCCCCC
Celera SNP ID:            hCV25615571
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,31)   caucasian(A,3|G,33)   total(A,8|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1252, 32, (E,GAA)   (E,GAG)   



Gene Number:                 216
Celera Gene:                 hCG34603 - 84000313574957
Celera Transcript:           hCT1954179 - 84000313574958
Public Transcript Accession: NM_001747
Celera Protein:              hCP1767698 - 197000064957461
Public Protein Accession:    NP_001738
Gene Symbol:                 CAPG
Protein Name:                capping protein (actin filament), gelsolin-like;AFCP;MCP
Celera Genomic Axis:         GA_x5YUV32W5TR(1423402..1439905)
Chromosome:                  Chr2
OMIM number:                 153615
OMIM Information:            CAPPING PROTEIN, GELSOLIN-LIKE;CAPG


Transcript Sequence (SEQ ID NO:556):
TTTCCTTGCTGGTCTCAGACTCAGAGATGCCCTCCCTGATTTGCCTTGGCTGTGACCTGCAGCGGGCTGAGGCCACTGTGGTGGGGCTGTGTGGACCTCC
AGCCTCCCTGTGTGCCCCTCTGAGGAGACGGCCTGGCATACCCACTGCCCACCCCAGTGACTGCTCTTCTGCTTCAGGCCTGCTGGCCTCCCAGCACTGC
CTGCCCCTCCCTGTCGGGGGACATCGCCTCCACACCGGCTGGGGAAGGAGCCCAGGGGTGGGGCTGGTGGGTGGGGCTGGTGGTTGGGGCAGCCAGAGAA
GTAAGAGGGAAGTGAGAAGCCGGGTGGGGCAGGCTGGAAGGAAGACGAACCTACGAAGCAGAGATCTGAAGACAGCATRTACACAGCCATTCCCCAGAGT
GGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGCRTCT
TCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGG
GGCCTGTGCCGTGCTGGCTGTGCACCTCAACACRCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGRCAATGAGTCTGACCTCTTCATGAGC
TACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCAGCTGCCATCAAGAAACTCTACCAGG
TGAAGGGGAAGAAGAACATCCGTGCCACCGAGCGGGCACTGAACTGGGACAGCTTCAACACTGGGGACTGCTTCATCCTGGACCTGGGCCAGAACATCTT
CGCCTGGTGTGGTGGAAAGTCCAACATCCTGGAACGCAACAAGGCGAGGGACCTGGCCCTGGCCATCCGGGACAGTGAGCGACAGGGCAAGGCCCAGGTG
GAGATTGTCACTGATGGGGAGGAGCCTGCTGAGATGATCCAGGTCCTGGGCCCCAAGCCTGCTCTGAAGGAGGGCAACCCTGAGGAAGACCTCACAGCTG
ACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCCMTTTGCCCTTGA
ACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGGAGCGGCAGGCA
GCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCRTGAGAGTCCCATCTTCAAGC
AATTTTTCAAGGACTGGAWATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTYTCTGGCTGCCTGRTCAGTG
CAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCACCCACCT
ATTCACCTGGGTTCATCCCCATGCTGGGGGTGGAGTAGCACACAGATGACAATTGGACAGCCTTGGAGGGGCCAGAGCTGCTTTGCATGACAGAGGAGTC
CCAGCCAGGCTTGCAGGGACTGCCATGAACCCAATAGGGAGGTGGCACAGTGCCAGGCCTCAGGATCAGTTGCATCCGGGTGTTCAGTTCAGTCTCACAT
TCCCAACAGGGAGAAGGTTGTGGCAATGGGCTTGGGATGCAGTTCCATTTAAGGCAGTATTTCTTCGGATGCCCTAATAAAGCACTGCCAGGCAGCTTCA
AGTGACATATGCCCACTGAGCAAGAGAGGACAGCCTTTCACAATTGTACCAAGCCTGGCTTATTACTTCGTAGGCACATTGCCCAGCATGTTTGGCTGGT
GAGCCCAGGGCCACTGCAGGGCTGTGCGAAAAGCACCAGGCTAGCATGGAC

Protein Sequence    (SEQ ID NO:1253):
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQG
NESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDS
ERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRK
ANEKERQAALQVAEGFISRMQYAPNTQVEILPQGRESPIFKQFFKDWK


SNP Information

Context             (SEQ ID NO:9834):
ATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACAC
R
CTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGGCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTG
Celera SNP ID:            hCV15851291
SNP Position Transcript:  634
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,21)   caucasian(G,2)   total(A,3|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1253, 86, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9835):
GGTGGTTGGGGCAGCCAGAGAAGTAAGAGGGAAGTGAGAAGCCGGGTGGGGCAGGCTGGAAGGAAGACGAACCTACGAAGCAGAGATCTGAAGACAGCAT
R
TACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGG
Celera SNP ID:            hCV27842845
SNP Position Transcript:  379
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 1, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:9836):
GAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGC
R
TCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCA
Celera SNP ID:            hCV15851292
SNP Position Transcript:  497
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,22)   caucasian(A,1|G,5)   total(A,5|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 41, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9837):
AATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCC
R
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Celera SNP ID:            hCV8695563
SNP Position Transcript:  1380
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,17)   caucasian(A,1|G,3)   total(A,12|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 335, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,512|G,551)   total(G,551|A,512)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 335, (H,CAT)   (R,CGT)      335, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:9838):
GGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGA
W
ATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGA
Celera SNP ID:            hCV8695564
SNP Position Transcript:  1419
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 348, (K,AAA)   (I,ATA)      



Context             (SEQ ID NO:9839):
ACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCC
M
TTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGG
Celera SNP ID:            hCV8695558
SNP Position Transcript:  1189
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,13)   caucasian(A,25|C,9)   total(A,44|C,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1253, 271, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1253, 271, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:9840):
TTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTG
R
TCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCAC
Celera SNP ID:            hCV25615618
SNP Position Transcript:  1494
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,1)   total(A,1|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1253, None



Context             (SEQ ID NO:9841):
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Y
TCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGA
Celera SNP ID:            hCV27508644
SNP Position Transcript:  1481
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1253, None   



Context             (SEQ ID NO:9842):
CAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACGCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGG
R
CAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCA
Celera SNP ID:            hCV25615619
SNP Position Transcript:  675
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,2)   total(A,1|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1253, 100, (D,GAC)   (G,GGC)   



Gene Number:                 216
Celera Gene:                 hCG34603 - 84000313574957
Celera Transcript:           hCT1954180 - 84000313574986
Public Transcript Accession: NM_001747
Celera Protein:              hCP1767675 - 197000064957463
Public Protein Accession:    NP_001738
Gene Symbol:                 CAPG
Protein Name:                capping protein (actin filament), gelsolin-like;AFCP;MCP
Celera Genomic Axis:         GA_x5YUV32W5TR(1420121..1439905)
Chromosome:                  Chr2
OMIM number:                 153615
OMIM Information:            CAPPING PROTEIN, GELSOLIN-LIKE;CAPG


Transcript Sequence (SEQ ID NO:557):
GGTCGCCGGGGACCTGGGCTCCCCATGTAGGGGTCGAACGGGCTTAGCCGGTTCGGGGGCGCCCCGCTCCCTCCTCTTCTCCCACAGCCGGGGTCCTCTC
TTAGGGGCGCGCCGTCTCCTGGCTTCCTATCTGAAGACAGCATRTACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGG
CCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGCRTCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAAT
GGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACRC
TGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGRCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGG
TGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCAGCTGCCATCAAGAAACTCTACCAGGTGAAGGGGAAGAAGAACATCCGTGCCACCGAGCGG
GCACTGAACTGGGACAGCTTCAACACTGGGGACTGCTTCATCCTGGACCTGGGCCAGAACATCTTCGCCTGGTGTGGTGGAAAGTCCAACATCCTGGAAC
GCAACAAGGCGAGGGACCTGGCCCTGGCCATCCGGGACAGTGAGCGACAGGGCAAGGCCCAGGTGGAGATTGTCACTGATGGGGAGGAGCCTGCTGAGAT
GATCCAGGTCCTGGGCCCCAAGCCTGCTCTGAAGGAGGGCAACCCTGAGGAAGACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAG
GTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCCMTTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACA
ACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCAT
GCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCRTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAWATGAGGGTGGGCGTCT
TCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTYTCTGGCTGCCTGRTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGA
CAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCACCCACCTATTCACCTGGGTTCATCCCCATGCTGGGGGTGGAG
TAGCACACAGATGACAATTGGACAGCCTTGGAGGGGCCAGAGCTGCTTTGCATGACAGAGGAGTCCCAGCCAGGCTTGCAGGGACTGCCATGAACCCAAT
AGGGAGGTGGCACAGTGCCAGGCCTCAGGATCAGTTGCATCCGGGTGTTCAGTTCAGTCTCACATTCCCAACAGGGAGAAGGTTGTGGCAATGGGCTTGG
GATGCAGTTCCATTTAAGGCAGTATTTCTTCGGATGCCCTAATAAAGCACTGCCAGGCAGCTTCAAGTGACATATGCCCACTGAGCAAGAGAGGACAGCC
TTTCACAATTGTACCAAGCCTGGCTTATTACTTCGTAGGCACATTGCCCAGCATGTTTGGCTGGTGAGCCCAGGGCCACTGCAGGGCTGTGCGAAAAGCA
CCAGGCTAGCATGGAC

Protein Sequence    (SEQ ID NO:1254):
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQG
NESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDS
ERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRK
ANEKERQAALQVAEGFISRMQYAPNTQVEILPQGRESPIFKQFFKDWK


SNP Information

Context             (SEQ ID NO:9843):
ATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACAC
R
CTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGGCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTG
Celera SNP ID:            hCV15851291
SNP Position Transcript:  399
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,21)   caucasian(G,2)   total(A,3|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1254, 86, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9844):
TTAGCCGGTTCGGGGGCGCCCCGCTCCCTCCTCTTCTCCCACAGCCGGGGTCCTCTCTTAGGGGCGCGCCGTCTCCTGGCTTCCTATCTGAAGACAGCAT
R
TACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGG
Celera SNP ID:            hCV27842845
SNP Position Transcript:  144
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 1, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:9845):
GAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGC
R
TCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCA
Celera SNP ID:            hCV15851292
SNP Position Transcript:  262
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,22)   caucasian(A,1|G,5)   total(A,5|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 41, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9846):
AATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCC
R
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Celera SNP ID:            hCV8695563
SNP Position Transcript:  1145
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,17)   caucasian(A,1|G,3)   total(A,12|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 335, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,512|G,551)   total(G,551|A,512)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 335, (H,CAT)   (R,CGT)      335, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:9847):
GGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGA
W
ATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGA
Celera SNP ID:            hCV8695564
SNP Position Transcript:  1184
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 348, (K,AAA)   (I,ATA)      



Context             (SEQ ID NO:9848):
ACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCC
M
TTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGG
Celera SNP ID:            hCV8695558
SNP Position Transcript:  954
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,13)   caucasian(A,25|C,9)   total(A,44|C,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1254, 271, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1254, 271, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:9849):
TTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTG
R
TCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCAC
Celera SNP ID:            hCV25615618
SNP Position Transcript:  1259
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,1)   total(A,1|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1254, None



Context             (SEQ ID NO:9850):
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Y
TCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGA
Celera SNP ID:            hCV27508644
SNP Position Transcript:  1246
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1254, None   



Context             (SEQ ID NO:9851):
CAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACGCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGG
R
CAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCA
Celera SNP ID:            hCV25615619
SNP Position Transcript:  440
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,2)   total(A,1|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1254, 100, (D,GAC)   (G,GGC)   



Gene Number:                 216
Celera Gene:                 hCG34603 - 84000313574957
Celera Transcript:           hCT25812 - 84000313574972
Public Transcript Accession: NM_001747
Celera Protein:              hCP47006 - 197000064957462
Public Protein Accession:    NP_001738
Gene Symbol:                 CAPG
Protein Name:                capping protein (actin filament), gelsolin-like;AFCP;MCP
Celera Genomic Axis:         GA_x5YUV32W5TR(1420837..1439905)
Chromosome:                  Chr2
OMIM number:                 153615
OMIM Information:            CAPPING PROTEIN, GELSOLIN-LIKE;CAPG


Transcript Sequence (SEQ ID NO:558):
GAGAGGCTTTAGCCTAGACAGCTGAGTGTGAGGAACAGTGATTCCCATTGATCCTTGTTCCCTCCGTGGGTCACAGAGTCCAGAACTTAAGAGCCACCCA
AGATCTGAAGACAGCATRTACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGC
TGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGCRTCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCA
CCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACRCTGCTGGGAGAGCGGCCTGTGCAGCAC
CGCGAGGTGCAGGRCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCT
CCACAGGAGCCCCAGCTGCCATCAAGAAACTCTACCAGGTGAAGGGGAAGAAGAACATCCGTGCCACCGAGCGGGCACTGAACTGGGACAGCTTCAACAC
TGGGGACTGCTTCATCCTGGACCTGGGCCAGAACATCTTCGCCTGGTGTGGTGGAAAGTCCAACATCCTGGAACGCAACAAGGCGAGGGACCTGGCCCTG
GCCATCCGGGACAGTGAGCGACAGGGCAAGGCCCAGGTGGAGATTGTCACTGATGGGGAGGAGCCTGCTGAGATGATCCAGGTCCTGGGCCCCAAGCCTG
CTCTGAAGGAGGGCAACCCTGAGGAAGACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAA
CCTGACCAAGGTGGCTGACTCCAGCCCMTTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATC
TGGAAGGGGCGAAAAGCGAATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGG
AGATTCTGCCTCAGGGCCRTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAWATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCC
ACCACCTGCCTGCTTGCTTYTCTGGCTGCCTGRTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTG
CACCACCTGCCCTGGGCTGATTCTCACTGTCACCCACCTATTCACCTGGGTTCATCCCCATGCTGGGGGTGGAGTAGCACACAGATGACAATTGGACAGC
CTTGGAGGGGCCAGAGCTGCTTTGCATGACAGAGGAGTCCCAGCCAGGCTTGCAGGGACTGCCATGAACCCAATAGGGAGGTGGCACAGTGCCAGGCCTC
AGGATCAGTTGCATCCGGGTGTTCAGTTCAGTCTCACATTCCCAACAGGGAGAAGGTTGTGGCAATGGGCTTGGGATGCAGTTCCATTTAAGGCAGTATT
TCTTCGGATGCCCTAATAAAGCACTGCCAGGCAGCTTCAAGTGACATATGCCCACTGAGCAAGAGAGGACAGCCTTTCACAATTGTACCAAGCCTGGCTT
ATTACTTCGTAGGCACATTGCCCAGCATGTTTGGCTGGTGAGCCCAGGGCCACTGCAGGGCTGTGCGAAAAGCACCAGGCTAGCATGGAC

Protein Sequence    (SEQ ID NO:1255):
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQG
NESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDS
ERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRK
ANEKERQAALQVAEGFISRMQYAPNTQVEILPQGRESPIFKQFFKDWK


SNP Information

Context             (SEQ ID NO:9852):
ATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACAC
R
CTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGGCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTG
Celera SNP ID:            hCV15851291
SNP Position Transcript:  373
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,21)   caucasian(G,2)   total(A,3|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1255, 86, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9853):
ACAGCTGAGTGTGAGGAACAGTGATTCCCATTGATCCTTGTTCCCTCCGTGGGTCACAGAGTCCAGAACTTAAGAGCCACCCAAGATCTGAAGACAGCAT
R
TACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGG
Celera SNP ID:            hCV27842845
SNP Position Transcript:  118
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 1, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:9854):
GAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGC
R
TCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCA
Celera SNP ID:            hCV15851292
SNP Position Transcript:  236
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,22)   caucasian(A,1|G,5)   total(A,5|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 41, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9855):
AATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCC
R
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Celera SNP ID:            hCV8695563
SNP Position Transcript:  1119
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,17)   caucasian(A,1|G,3)   total(A,12|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 335, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,512|G,551)   total(G,551|A,512)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 335, (H,CAT)   (R,CGT)      335, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:9856):
GGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGA
W
ATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGA
Celera SNP ID:            hCV8695564
SNP Position Transcript:  1158
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 348, (K,AAA)   (I,ATA)      



Context             (SEQ ID NO:9857):
ACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCC
M
TTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGG
Celera SNP ID:            hCV8695558
SNP Position Transcript:  928
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,13)   caucasian(A,25|C,9)   total(A,44|C,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1255, 271, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1255, 271, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:9858):
TTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTG
R
TCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCAC
Celera SNP ID:            hCV25615618
SNP Position Transcript:  1233
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,1)   total(A,1|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1255, None



Context             (SEQ ID NO:9859):
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Y
TCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGA
Celera SNP ID:            hCV27508644
SNP Position Transcript:  1220
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1255, None   



Context             (SEQ ID NO:9860):
CAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACGCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGG
R
CAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCA
Celera SNP ID:            hCV25615619
SNP Position Transcript:  414
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,2)   total(A,1|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1255, 100, (D,GAC)   (G,GGC)   



Gene Number:                 216
Celera Gene:                 hCG34603 - 84000313574957
Celera Transcript:           hCT1954182 - 84000313575000
Public Transcript Accession: NM_001747
Celera Protein:              hCP1767688 - 197000064957464
Public Protein Accession:    NP_001738
Gene Symbol:                 CAPG
Protein Name:                capping protein (actin filament), gelsolin-like;AFCP;MCP
Celera Genomic Axis:         GA_x5YUV32W5TR(1415650..1439905)
Chromosome:                  Chr2
OMIM number:                 153615
OMIM Information:            CAPPING PROTEIN, GELSOLIN-LIKE;CAPG


Transcript Sequence (SEQ ID NO:559):
CTTACACGCGTCCTGGCGTGTGGCTCTCCTGCGTCCTCGTTTTTCTCGTGAGCCCTGGATCTGGACAGTGGGCCCGGCGCGAGGCCCTCAACTCCGGCTG
GGCTCCCGGTGGCACTTTCTGCCGACCCTGAGATGTACCCGCCACGCCTGCGGGACTGACCTCTAGATCTGAAGACAGCATRTACACAGCCATTCCCCAG
AGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGCR
TCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCA
GGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACRCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGRCAATGAGTCTGACCTCTTCATG
AGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCAGCTGCCATCAAGAAACTCTACC
AGGTGAAGGGGAAGAAGAACATCCGTGCCACCGAGCGGGCACTGAACTGGGACAGCTTCAACACTGGGGACTGCTTCATCCTGGACCTGGGCCAGAACAT
CTTCGCCTGGTGTGGTGGAAAGTCCAACATCCTGGAACGCAACAAGGCGAGGGACCTGGCCCTGGCCATCCGGGACAGTGAGCGACAGGGCAAGGCCCAG
GTGGAGATTGTCACTGATGGGGAGGAGCCTGCTGAGATGATCCAGGTCCTGGGCCCCAAGCCTGCTCTGAAGGAGGGCAACCCTGAGGAAGACCTCACAG
CTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCCMTTTGCCCT
TGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGGAGCGGCAG
GCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCRTGAGAGTCCCATCTTCA
AGCAATTTTTCAAGGACTGGAWATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTYTCTGGCTGCCTGRTCA
GTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCACCCA
CCTATTCACCTGGGTTCATCCCCATGCTGGGGGTGGAGTAGCACACAGATGACAATTGGACAGCCTTGGAGGGGCCAGAGCTGCTTTGCATGACAGAGGA
GTCCCAGCCAGGCTTGCAGGGACTGCCATGAACCCAATAGGGAGGTGGCACAGTGCCAGGCCTCAGGATCAGTTGCATCCGGGTGTTCAGTTCAGTCTCA
CATTCCCAACAGGGAGAAGGTTGTGGCAATGGGCTTGGGATGCAGTTCCATTTAAGGCAGTATTTCTTCGGATGCCCTAATAAAGCACTGCCAGGCAGCT
TCAAGTGACATATGCCCACTGAGCAAGAGAGGACAGCCTTTCACAATTGTACCAAGCCTGGCTTATTACTTCGTAGGCACATTGCCCAGCATGTTTGGCT
GGTGAGCCCAGGGCCACTGCAGGGCTGTGCGAAAAGCACCAGGCTAGCATGGAC

Protein Sequence    (SEQ ID NO:1256):
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQG
NESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDS
ERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRK
ANEKERQAALQVAEGFISRMQYAPNTQVEILPQGRESPIFKQFFKDWK


SNP Information

Context             (SEQ ID NO:9861):
ATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACAC
R
CTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGGGCAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTG
Celera SNP ID:            hCV15851291
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,21)   caucasian(G,2)   total(A,3|G,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1256, 86, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:9862):
AGGCCCTCAACTCCGGCTGGGCTCCCGGTGGCACTTTCTGCCGACCCTGAGATGTACCCGCCACGCCTGCGGGACTGACCTCTAGATCTGAAGACAGCAT
R
TACACAGCCATTCCCCAGAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGG
Celera SNP ID:            hCV27842845
SNP Position Transcript:  182
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 1, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:9863):
GAGTGGCTCTCCATTCCCAGGCTCAGTGCAGGATCCAGGCCTGCATGTGTGGCGGGTGGAGAAGCTGAAGCCGGTGCCTGTGGCGCAAGAGAACCAGGGC
R
TCTTCTTCTCGGGGGACTCCTACCTAGTGCTGCACAATGGCCCAGAAGAGGTTTCCCATCTGCACCTGTGGATAGGCCAGCAGTCATCCCGGGATGAGCA
Celera SNP ID:            hCV15851292
SNP Position Transcript:  300
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,22)   caucasian(A,1|G,5)   total(A,5|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 41, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:9864):
AATGAGAAGGAGCGGCAGGCAGCCCTGCAGGTGGCCGAGGGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCC
R
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Celera SNP ID:            hCV8695563
SNP Position Transcript:  1183
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,17)   caucasian(A,1|G,3)   total(A,12|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 335, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,512|G,551)   total(G,551|A,512)no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 335, (H,CAT)   (R,CGT)      335, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:9865):
GGCTTCATCTCGCGCATGCAGTACGCCCCGAACACTCAGGTGGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGA
W
ATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGA
Celera SNP ID:            hCV8695564
SNP Position Transcript:  1222
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 348, (K,AAA)   (I,ATA)      



Context             (SEQ ID NO:9866):
ACCTCACAGCTGACAAGGCAAATGCCCAGGCCGCAGCTCTGTATAAGGTCTCTGATGCCACTGGACAGATGAACCTGACCAAGGTGGCTGACTCCAGCCC
M
TTTGCCCTTGAACTGCTGATATCTGATGACTGCTTTGTGCTGGACAACGGGCTCTGTGGCAAGATCTATATCTGGAAGGGGCGAAAAGCGAATGAGAAGG
Celera SNP ID:            hCV8695558
SNP Position Transcript:  992
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,13)   caucasian(A,25|C,9)   total(A,44|C,22)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1256, 271, (P,CCA)   (P,CCC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1256, 271, (P,CCA)   (P,CCC)      



Context             (SEQ ID NO:9867):
TTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTTCTCTGGCTGCCTG
R
TCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGATTCTCACTGTCAC
Celera SNP ID:            hCV25615618
SNP Position Transcript:  1297
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,1)   total(A,1|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1256, None



Context             (SEQ ID NO:9868):
TGAGAGTCCCATCTTCAAGCAATTTTTCAAGGACTGGAAATGAGGGTGGGCGTCTTCCTGCCCCATGCTCCCCTGCCCCCCACCACCTGCCTGCTTGCTT
Y
TCTGGCTGCCTGGTCAGTGCAGAGGTGCCCCCTGCAGATGTTCAATAAAGGAGACAAGTGCTTTCCCAGCTCTTTTCCTGCACCACCTGCCCTGGGCTGA
Celera SNP ID:            hCV27508644
SNP Position Transcript:  1284
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1256, None   



Context             (SEQ ID NO:9869):
CAGCAGTCATCCCGGGATGAGCAGGGGGCCTGTGCCGTGCTGGCTGTGCACCTCAACACGCTGCTGGGAGAGCGGCCTGTGCAGCACCGCGAGGTGCAGG
R
CAATGAGTCTGACCTCTTCATGAGCTACTTCCCACGGGGCCTCAAGTACCAGGAAGGTGGTGTGGAGTCAGCATTTCACAAGACCTCCACAGGAGCCCCA
Celera SNP ID:            hCV25615619
SNP Position Transcript:  478
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,25)   caucasian(G,2)   total(A,1|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1256, 100, (D,GAC)   (G,GGC)   



Gene Number:                 217
Celera Gene:                 hCG36855 - 113000145190658
Celera Transcript:           hCT2293438 - 113000145190673
Public Transcript Accession: NM_004172
Celera Protein:              hCP1812393 - 197000064955034
Public Protein Accession:    NP_004163
Gene Symbol:                 SLC1A3
Protein Name:                solute carrier family 1 (glial high affinity glutamate transporter), member 3;EAAT1;GLAST;GLAST1
Celera Genomic Axis:         GA_x5YUV32VTD9(2204148..2285870)
Chromosome:                  Chr5
OMIM number:                 600111
OMIM Information:            SOLUTE CARRIER FAMILY 1, MEMBER 3;SLC1A3


Transcript Sequence (SEQ ID NO:560):
CAGAGCACATGCACACTGTCAGGGCTAGCCTGCCTGCTTACGCGCGCTGCGGATTGTTGCTCCGTTGTACCTGCTGGGGAATTCACCTCGTTACTGCTTG
ATATCTTCCACCCCTTACAAAATCAGAAAAGTTGTGTTTTCTAATACCAAAGAGGAGGTTTGGCTTTCTGTGGGTGATTCCCAGACACTGAAGTGCAAAG
AAGAGACCCTCCTAGAAAAGTAAAATATGACTAAAAGCAATGGAGAAGAGCCCAAGATGGGGGGCAGGATGGAGAGATTCCAGCAGGGAGTCCGTAAACG
CACACTTTTGGCCAAGAAGAAAGTGCAGAACATTACAAAGGAGGATGTTAAAAGTTACCTGTTTCGGAATGCTTTTGTGCTGCTCACAGTCACCGCTGTC
ATTGTGGGTACAATCCTTGGATTTACCCTCCGACCATACAGAATGAGCTACCGGGAAGTCAAGTACTTCTCCTTTCCTGGGGAACTTCTGATGAGGATGT
TACAGATGCTGGTCTTACCACTTATCATCTCCAGTCTTGTCACAGGAATGGCGGCGCTAGATAGTAARGCATCAGGGAAGATGGGAATGCGAGCTGTAGT
CTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATCATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGCACAGAGAA
GGCAAAATTGTACGAGTGACAGCTGCAGATGCCTTCCTGGACTTGATCAGGAACATGTTCCCTCCAAATCTGGTAGAAGCCTGCTTTAAACAGTTTAAAA
CCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGASGCCATGGAGACTCTTAC
CCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTGGA
AACATGAAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACGAAGCCATCATGAGACTGGTAGCAGTAATAATGTGGTATGCCCCCGTGG
GTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACACCGTGACTGTCATTGTTGGCTT
ACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTTTTATTGGAGGGTTGCTGCAAGCACTCATCACC
GCTCTGGGGACCTCTTCAAGTTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCGCGTCACCAGATTCGTGCTCC
CCGTAGGAGCCACCATTAACATGGATGGGACTGCCCTCTATGAGGCTTTGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCGGACA
AATTATTACAATCAGCATCACAGCCACAGCTGCCAGTATTGGGGCAGCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGACATCTGTC
GGCCTGCCCACTGACGACATCACGCTCATCATCGCGGTGGACTGGTTCCTGGATCGCCTCCGGACCACCACCAACGTACTGGGAGACTCCCTGGGAGCTG
GGATTGTGGAGCACTTGTCACGACATGAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAGAGAATGAAATGAAGAAACCATATCAACT
GATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCARGTGTTAAAAACC
ATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAARTAGTCCTCCAAA
ACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAATAAGGTACCAAG
ATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTTWATATAAGTTAAAGAGACAAATAGTAGGCTAAA
AACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGT
TGGACAGTAAGATTTTATCCCTYTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATMTACATCTAGCACAGCTGTGAGGACAGACAG
AAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAAAATGAGGGACTTCCCTAGAAGTCTTCATGG
TCTCTTCCAGCCCAGACATCCTGTGATGTCATGAAAGCACCTGCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGGAGCACGAGGCCTTCAGAA
AAGACACTTCAATGGGAGTGAACATTTCTAACTAAGGACAGGATGGCTGTGTGTGGTGGTCACCAGGTCCTGTGAGCAAAGTGCAGGTTATGCAAGTCGC
CAGGCAGGAGGCCATTCCAGGAGTGGGATTATTCATCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAA
TGTCTCCTGCCACTCCTCAACTGATGATAGACTTCRAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTRGTCACACTGTGGAACACTAAAGA
GCTAGGAAAGAGTTGAGCACAGGCAACATTACAAAYAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCA
TTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTTCTCGAGTCCAAAATCATTCCCCCCGTGAAGTCTGCTTACCAAAACATAAGACGACTTATATATT
TGAAAGAAGTCAAATGAATGAGCTCTCTAATAGAAGTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAAT
GAGGGAAACAAAATATTTATTTGTTTTGGAATCCCRCTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATA
AGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTGTYAATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGT
TTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAAAGACGCTGAGTGGGAGCTGTCAGGCAGTAGCAGCTGTGTTTGAGTTTCTGGCTGAAAATG
GTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATRTAGACCCCAAGCATTCTG
TRCATAAAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACACAAT
ATGTGTTTTTTAATATACTAACCATTTCTTATGGAAAGGTCCTGTGGGGAGCCCATCCTCTCGCCAAGCCATCACAGGCTCTGCATACACATGCACTCAG
TGTGGACTGGGAAGCATTACTTTGTAGATGTATTTTCAATAAAGAAAAAAATAGTTTTACATTAACAT

Protein Sequence    (SEQ ID NO:1257):
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLI
ISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFK
VPIQANETLVGAVINNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGK
IVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD
GTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIVEHLSRH
ELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM


SNP Information

Context             (SEQ ID NO:9870):
AAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCT
Y
TCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATATACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCT
Celera SNP ID:            hCV7583556
SNP Position Transcript:  2323
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9871):
CCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTCGAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGT
R
GTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAACAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGG
Celera SNP ID:            hCV7583564
SNP Position Transcript:  2877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9872):
GTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAATGAGGGAAACAAAATATTTATTTGTTTTGGAATCCC
R
CTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACAC
Celera SNP ID:            hCV7583565
SNP Position Transcript:  3236
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9873):
GCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGA
S
GCCATGGAGACTCTTACCCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCT
Celera SNP ID:            hCV11471442
SNP Position Transcript:  883
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(C,1|G,35)   total(C,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1257, 219, (D,GAC)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1257, 219, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:9874):
AACCATATCAACTGATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCA
R
GTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAAA
Celera SNP ID:            hCV2935171
SNP Position Transcript:  1888
SNP Source:               Applera
Population(Allele,Count): african american(G,4)   caucasian(A,2|G,6)   total(A,2|G,10)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,9|G,29)   total(A,12|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,5)      total(G,5|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9875):
TTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCTTTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACAT
M
TACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAA
Celera SNP ID:            hCV2935172
SNP Position Transcript:  2370
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,4)      total(A,4|C,3) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9876):
GAGTTTCTGGCTGAAAATGGTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTAT
R
TAGACCCCAAGCATTCTGTGCATAAAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAAC
Celera SNP ID:            hCV15876333
SNP Position Transcript:  3582
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|A,728)   total(G,13|A,728) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9877):
ATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTGT
Y
AATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGTTTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAA
Celera SNP ID:            hCV2935173
SNP Position Transcript:  3340
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;JBIC-allele(T,367|C,1134)   total(C,1134|T,367)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9878):
GGTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAA
R
TAGTCCTCCAAAACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAA
Celera SNP ID:            hCV29246916
SNP Position Transcript:  1988
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9879):
TTTCATGTTAGTCTTACCGAATAAGGTACCAAGATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTT
W
ATATAAGTTAAAGAGACAAATAGTAGGCTAAAAACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAAT
Celera SNP ID:            hCV29246917
SNP Position Transcript:  2168
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9880):
GAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAA
Y
AAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCATTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTT
Celera SNP ID:            hCV29246918
SNP Position Transcript:  2936
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9881):
TCTCCTTTCCTGGGGAACTTCTGATGAGGATGTTACAGATGCTGGTCTTACCACTTATCATCTCCAGTCTTGTCACAGGAATGGCGGCGCTAGATAGTAA
R
GCATCAGGGAAGATGGGAATGCGAGCTGTAGTCTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATCATTGTCATCATCATCCATCCTG
Celera SNP ID:            hCV25762713
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1257, 114, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:9882):
TGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATATAGACCCCAAGCATTCTGT
R
CATAAAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACACAATAT
Celera SNP ID:            hCV29246919
SNP Position Transcript:  3602
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Context             (SEQ ID NO:9883):
TCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTC
R
AAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAAC
Celera SNP ID:            hCV7583563
SNP Position Transcript:  2836
SNP Source:               dbSNP
Population(Allele,Count): Caucasian(G,82)   African-American(A,10|G,60)   no_pop(A,-|G,-)   Asians(G,84)   total(G,226|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1257, None   



Gene Number:                 217
Celera Gene:                 hCG36855 - 113000145190658
Celera Transcript:           hCT28085 - 113000145190659
Public Transcript Accession: NM_004172
Celera Protein:              hCP47531 - 197000064955033
Public Protein Accession:    NP_004163
Gene Symbol:                 SLC1A3
Protein Name:                solute carrier family 1 (glial high affinity glutamate transporter), member 3;EAAT1;GLAST;GLAST1
Celera Genomic Axis:         GA_x5YUV32VTD9(2204148..2285870)
Chromosome:                  Chr5
OMIM number:                 600111
OMIM Information:            SOLUTE CARRIER FAMILY 1, MEMBER 3;SLC1A3


Transcript Sequence (SEQ ID NO:561):
CAGAGCACATGCACACTGTCAGGGCTAGCCTGCCTGCTTACGCGCGCTGCGGATTGTTGCTCCGTTGTACCTGCTGGGGAATTCACCTCGTTACTGCTTG
ATATCTTCCACCCCTTACAAAATCAGAAAAGTTGTGTTTTCTAATACCAAAGAGGAGGTTTGGCTTTCTGTGGGTGATTCCCAGACACTGAAGTGCAAAG
AAGAGACCCTCCTAGAAAAGTAAAATATGACTAAAAGCAATGGAGAAGAGCCCAAGATGGGGGGCAGGATGGAGAGATTCCAGCAGGGAGTCCGTAAACG
CACACTTTTGGCCAAGAAGAAAGTGCAGAACATTACAAAGGAGGATGTTAAAAGTTACCTGTTTCGGAATGCTTTTGTGCTGCTCACAGTCACCGCTGTC
ATTGTGGGTACAATCCTTGGATTTACCCTCCGACCATACAGAATGAGCTACCGGGAAGTCAAGTACTTCTCCTTTCCTGGGGAACTTCTGATGAGGATGT
TACAGATGCTGGTCTTACCACTTATCATCTCCAGTCTTGTCACAGGAATGGCGGCGCTAGATAGTAARGCATCAGGGAAGATGGGAATGCGAGCTGTAGT
CTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATCATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGCACAGAGAA
GGCAAAATTGTACGAGTGACAGCTGCAGATGCCTTCCTGGACTTGATCAGGAACATGTTCCCTCCAAATCTGGTAGAAGCCTGCTTTAAACAGTTTAAAA
CCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGASGCCATGGAGACTCTTAC
CCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTGGA
AACATGAAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACGAAGCCATCATGAGACTGGTAGCAGTAATAATGTGGTATGCCCCCGTGG
GTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACACCGTGACTGTCATTGTTGGCTT
ACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTTTTATTGGAGGGTTGCTGCAAGCACTCATCACC
GCTCTGGGGACCTCTTCAAGTTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCGCGTCACCAGATTCGTGCTCC
CCGTAGGAGCCACCATTAACATGGATGGGACTGCCCTCTATGAGGCTTTGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCGGACA
AATTATTACAATCAGCATCACAGCCACAGCTGCCAGTATTGGGGCAGCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGACATCTGTC
GGCCTGCCCACTGACGACATCACGCTCATCATCGCGGTGGACTGGTTCCTGGATCGCCTCCGGACCACCACCAACGTACTGGGAGACTCCCTGGGAGCTG
GGATTGTGGAGCACTTGTCACGACATGAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAGAGAATGAAATGAAGAAACCATATCAACT
GATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCARGTGTTAAAAACC
ATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAARTAGTCCTCCAAA
ACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAATAAGGTACCAAG
ATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTTWATATAAGTTAAAGAGACAAATAGTAGGCTAAA
AACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGT
TGGACAGTAAGATTTTATCCCTYTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATMTACATCTAGCACAGCTGTGAGGACAGACAG
AAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAAAATGAGGGACTTCCCTAGAAGTCTTCATGG
TCTCTTCCAGCCCAGACATCCTGTGATGTCATGAAAGCACCTGCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGGAGCACGAGGCCTTCAGAA
AAGACACTTCAATGGGAGTGAACATTTCTAACTAAGGACAGGATGGCTGTGTGTGGTGGTCACCAGGTCCTGTGAGCAAAGTGCAGGTTATGCAAGTCGC
CAGGCAGGAGGCCATTCCAGGAGTGGGATTATTCATCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAA
TGTCTCCTGCCACTCCTCAACTGATGATAGACTTCRAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTRGTCACACTGTGGAACACTAAAGA
GCTAGGAAAGAGTTGAGCACAGGCAACATTACAAAYAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCA
TTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTTCTCGAGTCCAAAATCATTCCCCCCGTGAAGTCTGCTTACCAAAACATAAGACGACTTATATATT
TGAAAGAAGTCAAATGAATGAGCTCTCTAATAGAAGTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAAT
GAGGGAAACAAAATATTTATTTGTTTTGGAATCCCRCTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATA
AGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTGTYAATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGT
TTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAAAGACGCTGAGTGGGAGCTGTCAGGCAGTAGCAGCTGTGTTTGAGTTTCTGGCTGAAAATG
GTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATRTAGACCCCAAGCATTCTG
TRCATAAAAGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGGAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCT
TAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACACAATATGTGTTTTTTAATATACTAACCATTTCTTATGGAAAGGTCCTGT
GGGGAGCCCATCCTCTCGCCAAGCCATCACAGGCTCTGCATACACATGCACTCAGTGTGGACTGGGAAGCATTACTTTGTAGATGTATTTTCAATAAAGA
AAAAAATAGTTTTACATTAACAT

Protein Sequence    (SEQ ID NO:1258):
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLI
ISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFK
VPIQANETLVGAVINNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGK
IVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD
GTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIVEHLSRH
ELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM


SNP Information

Context             (SEQ ID NO:9884):
AAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCT
Y
TCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATATACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCT
Celera SNP ID:            hCV7583556
SNP Position Transcript:  2323
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9885):
CCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTCGAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGT
R
GTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAACAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGG
Celera SNP ID:            hCV7583564
SNP Position Transcript:  2877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9886):
GTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAATGAGGGAAACAAAATATTTATTTGTTTTGGAATCCC
R
CTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACAC
Celera SNP ID:            hCV7583565
SNP Position Transcript:  3236
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9887):
GCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGA
S
GCCATGGAGACTCTTACCCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCT
Celera SNP ID:            hCV11471442
SNP Position Transcript:  883
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(C,1|G,35)   total(C,2|G,72)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1258, 219, (D,GAC)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,6)      total(G,6|C,1) ;no_pop(C,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1258, 219, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:9888):
AACCATATCAACTGATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCA
R
GTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAAA
Celera SNP ID:            hCV2935171
SNP Position Transcript:  1888
SNP Source:               Applera
Population(Allele,Count): african american(G,4)   caucasian(A,2|G,6)   total(A,2|G,10)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,9|G,29)   total(A,12|G,62)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|G,5)      total(G,5|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9889):
TTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCTTTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACAT
M
TACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAA
Celera SNP ID:            hCV2935172
SNP Position Transcript:  2370
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,4)      total(A,4|C,3) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9890):
GAGTTTCTGGCTGAAAATGGTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTAT
R
TAGACCCCAAGCATTCTGTGCATAAAAGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGGAAATACACTACAAATGTTAA
Celera SNP ID:            hCV15876333
SNP Position Transcript:  3582
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,13|A,728)   total(G,13|A,728) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9891):
ATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTGT
Y
AATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGTTTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAA
Celera SNP ID:            hCV2935173
SNP Position Transcript:  3340
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;JBIC-allele(T,367|C,1134)   total(C,1134|T,367)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9892):
GGTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAA
R
TAGTCCTCCAAAACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAA
Celera SNP ID:            hCV29246916
SNP Position Transcript:  1988
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9893):
TTTCATGTTAGTCTTACCGAATAAGGTACCAAGATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTT
W
ATATAAGTTAAAGAGACAAATAGTAGGCTAAAAACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAAT
Celera SNP ID:            hCV29246917
SNP Position Transcript:  2168
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9894):
GAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAA
Y
AAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCATTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTT
Celera SNP ID:            hCV29246918
SNP Position Transcript:  2936
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9895):
TCTCCTTTCCTGGGGAACTTCTGATGAGGATGTTACAGATGCTGGTCTTACCACTTATCATCTCCAGTCTTGTCACAGGAATGGCGGCGCTAGATAGTAA
R
GCATCAGGGAAGATGGGAATGCGAGCTGTAGTCTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATCATTGTCATCATCATCCATCCTG
Celera SNP ID:            hCV25762713
SNP Position Transcript:  568
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1258, 114, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:9896):
TGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATATAGACCCCAAGCATTCTGT
R
CATAAAAGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGGAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTA
Celera SNP ID:            hCV29246919
SNP Position Transcript:  3602
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Context             (SEQ ID NO:9897):
TCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTC
R
AAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAAC
Celera SNP ID:            hCV7583563
SNP Position Transcript:  2836
SNP Source:               dbSNP
Population(Allele,Count): Caucasian(G,82)   African-American(A,10|G,60)   no_pop(A,-|G,-)   Asians(G,84)   total(G,226|A,10) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1258, None   



Gene Number:                 218
Celera Gene:                 hCG37123 - 145000147245512
Celera Transcript:           hCT28353 - 145000147245513
Public Transcript Accession: NM_002439
Celera Protein:              hCP47878 - 197000064940204
Public Protein Accession:    NP_002430
Gene Symbol:                 MSH3
Protein Name:                mutS homolog 3 (E. coli)
Celera Genomic Axis:         GA_x5YUV32W40L(9254445..9476754)
Chromosome:                  Chr5
OMIM number:                 126060
OMIM Information:            DIHYDROFOLATE REDUCTASE;DHFR


Transcript Sequence (SEQ ID NO:562):
TGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTGCGTCGGGCGGCCTCGCTGCCTCCAGCTCAGCCCCTGCGAGGCAAGCGGTTTT
GAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCYGCAGCGSCC
SCAGCGSCCGCCTTCCCGCCCCAGCTGCCGCCGCACRTAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGA
AAGTAAAGAAAGTCCAACAAAAGGAAGGAGGAAGTGATCTGGGAATGTCTGGCAACTCTGAGCCAAAGAAATGTCTGAGGACYAGGAATGTTTCAAAGTC
TCTGGAAAAATTGAAAGAATTCTGCTGCGATTCTGCCCTTCCTCAAAGTAGAGTCCAGACAGAATCTCTGCAGGAGAGATTTGCAGTTCTGCCAAAATGT
ACTGATTTTGATGATATCAGTCTTCTACACGCAAAGAATGCAGTTTCTTCTGAAGATTCGAAACGTCAAATTAATCAAAAGGACACAACACTTTTTGATC
TCAGTCAGTTTGGATCATCAAATACAAGTCATGAAAATTTACAGAAAACTGCTTCCAAATCAGCTAACAAACGGTCCAAAAGCATCTATACGCCRCTAGA
ATTACAATACATAGAAATGAARCAGCAGCACAAAGATGCAGTTTTGTGTGTGGAATGTGGATATAAGTATAGATTCTTTGGGGAAGATGCAGAGATTGCA
GCCCGAGAGCTCAATATTTATTGCCATTTAGATCACAACTTTATGACAGCAAGTATACCTACTCACAGACTGTTTGTTCATGTACGCCGCCTGGTGGCAA
AAGGATATAAGGTGGGAGTTGTGAAGCAAACTGAAACTGCAGCATTAAAGGCCATTGGAGACAACAGAAGTTCACTCTTTTCCCGGAAATTGACTGCCCT
TTATACAAAATCTACACTTATTGGAGAAGATGTGAATCCCCTAATCAAGCTGGATGATGCTGTAAATGTTGATGAGATAATGACTGATACTTCTACCAGC
TATCTTCTGTGCATCTCTGAAAATAAGGAAAATGTTAGGGACAAAAAAAAGGGCAACATTTTTATTGGCATTGTGGGAGTGCAGCCTGCCACAGGCGAGG
TTGTGTTTGATAGTTTCCAGGACTCTGCTTCTCGTTCAGAGCTAGAAACCCGGATGTCAAGCCTGCAGCCAGTAGAGCTGCTGCTTCCTTCGGCCTTGTC
CGAGCAAACAGAGGCGCTCATCCACAGAGCCACATCTGTTAGTGTGCAGGATGACAGAATTCGAGTCGAAAGGATGGATAACATTTATTTTGAATRCAGC
CATGCTTTCCAGGCAGTTACAGAGTTTTATGCAAAAGATACAGTTGACATCAAAGGTTCTCAAATTATTTCTGGCATTGTTAACTTAGAGAAGCCTGTGA
TTTGCTCTTTGGCTGCCATCATAAAATACCTCAAAGAATTCAACTTGGAAAAGATGCTCTCCAAACCTRAGAATTTTAAACAGCTATCAAGTAAAATGGA
ATTTATGACAATTAATGGAACAACATTAAGGAATCTGGAAATCCTACAGAATCAGACTGATATGAAAACCAAAGGAAGTTTGCTGTGGGTTTTAGACCAC
ACTAAAACTTCATTTGGGAGACGGAAGTTAAAGAAGTGGGTGACCCAGCCACTCCTTAAATTAAGGGAAATAAATGCCCGGCTTGATGCTGTATCGGAAG
TTCTCCATTCAGAATCTAGTGTGTTTGGTCAGATAGAAAATCATCTACGTAAATTGCCCGACATAGAGAGGGGACTCTGTAGCATTTATCACAAAAAATG
TTCTACCCAAGAGTTCTTCTTGATTGTCAAAACTTTATATCACCTAAAGTCAGAATTTCAAGCAATAATACCTGCTGTTAATTCCCACATTCAGTCAGAC
TTGCTCYGGACCGTTATTTTAGAAATTCCTGAACTCCTCAGTCCAGTGGAGCATTACTTAAAGATACTCAATGAACAAGCTGCCAAAGTTGGGGATAAAA
CTGAATTATTTAAAGACCTTTCTGACYTCCCTTTAATAAAAAAGAGGAAGGATGAAATTCAAGGTGTTATTGACGAGATCCGAATGCATTTGCAAGAAAT
ACGAAAAATACTAAAAAATCCTTCTGCACAATATGTGACAGTATCAGGACAGGAGTTTATGATAGAAATAAAGAACTCTGCTGTATCTTGTATACCAACT
GATTGGGTAAAGGTTGGAAGCACAAAAGCTGTGAGCCGCTTTCACTCTCCTTTTATTGTAGAAAATTACAGACATCTGAATCAGCTCCGGGAGCAGCTAG
TCCTTGACTGCAGTGCTGAATGGCTTGATTTTCTAGAGAAATTCAGTGAACATTATCACTCCTTGTGTAAAGCAGTGCATCACCTAGCAACTGTTGACTG
CATTTTCTCCCTGGCCAAGGTCGCTAAGCAAGGAGATTACTGCAGACCAACTGTACAAGAAGAAAGAAAAATTGTAATAAAAAATGGAAGGCWCCCTGTG
ATTGATGTGTTGCTGGGAGAACAGGATCAATATGTCCCAAATAATACAGATTTATCAGAGGACTCAGAGAGAGTAATGATAATTACCGGACCAAACATGG
GTGGAAAGAGCTCCTACATAAAACAAGTTGCATTGATTACCATCATGGCTCAGATTGGCTCCTATGTTCCTGCAGAAGAAGCGACAATTGGGATTGTGGA
TGGCATTTTCACAAGGATGGGTGCTGCAGACAATATATATAAAGGACRGAGTACATTTATGGAAGAACTGACTGACACAGCAGAAATAATCAGAAAAGCA
ACATCACAGTCCTTGGTTATCTTGGATGAACTAGGAAGAGGGACGAGCACTCATGATGGAATTGCCATTGCCTATGCTACACTTGAGTATTTCATCAGAG
ATGTGAAATCCTTAACCCTGTTTGTCACCCATTATCCGCCAGTTTGTGAACTAGAAAAAAATTACTCACACCAGGTGGGGAATTACCACATGGGATTCTT
GGTCAGTGAGGATGAAAGCAAACTGGATCCAGGCRCAGCAGAACAAGTCCCTGATTTTGTCRCCTTCCTTTACCAAATAACTAGAGGAATTGCAGCAAGG
AGTTATGGATTAAATGTGGCTAAACTAGCAGATGTTCCTGGAGAAATTTTGAAGAAAGCAGCTCACAAGTCAAAAGAGCTGGAAGGATTAATAAATACGA
AAAGAAAGAGACTCAAGTATTTTGCAAAGTTATGGACGATGCATAATGCACAAGACCTGCAGAAGTGGACAGAGGAGTTCAACATGGAAGAAACACAGAC
TTCTCTTCTTCATTAAAATGAAGACTACATTTGTGAACAAAAAATGGAGAATTAAAAATACCAACTGTACAAAATAACTCTCCAGTAACAGCCTATCTTT
GTGTGACATGTGAGCATAAAATTATGACCATGGTATATTCCTATTGGAAACAGAGAGGTTTTTCTGAAGACAGTCTTTTTCAAGTTTCTGTCTTCCTAAC
TTTTCTACGTATAAACACTCTTGAATAGACTTCCACTTTGTAATTAGAAAATTTTATGGACAGTAAGTCCAGTAAAGCCTTAAGTGGCAGAATATAATTC
CCAAGCTTTTGGAGGGTGATATAAAAATTTACTTGATATTTTTATTTGTTTCAGTTCAGATAATTGGCAACTGGGTGAATCTGGCAGGAATCTATCCATT
GAACTAAAATAATTTTATTATGCAACCAGTTTATCCACCAAGAACATAAGAATTTTTTATAAGTAGAAAGAATTGGCCAGGCATGGTGGCTCATGCCTGT
AATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTTTACTAAAAAT
ATAAAGTACATCTCTACTAAAAATACGAAAAAATTAGCTGGGCATGGTGGCRCACACCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCTCT
TGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCACGTCACTGCACTCCAGCTTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAAAA
AAGAAAAGAAATAGAATTATCAAGCTTTTAAAAACTAGAGCACAGAAGGAATAAGGTCATGAAATTTAAAAGGTTAAATATTGTCATAGGATTAAGCAGT
TTAAAGATTGTTGGATGAAATTATTTGTCATTCATTCAAGTAATAAATATTTAATGAATACTTGCTATA

Protein Sequence    (SEQ ID NO:1259):
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAPPAPAFPPQLPPHVATEIDRRKKRPLENDGPVKKKVKKVQQKEG
GSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTS
HENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQ
TETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFDSFQDSA
SRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVICSLAAIIKY
LKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESSVFG
QIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDF
PLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLVLDCSAEWLD
FLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMGGKSSYIKQV
ALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGRSTFMEELTDTAEIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVT
HYPPVCELEKNYSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKYFAK
LWTMHNAQDLQKWTEEFNMEETQTSLLH


SNP Information

Context             (SEQ ID NO:9898):
GAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCCGCAGCGCCC
S
CAGCGCCCGCCTTCCCGCCCCAGCTGCCGCCGCACGTAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAA
Celera SNP ID:            hCV26764037
SNP Position Transcript:  201
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 58, (P,CCA)   (A,GCA)      



Context             (SEQ ID NO:9899):
ATACAAGTCATGAAAATTTACAGAAAACTGCTTCCAAATCAGCTAACAAACGGTCCAAAAGCATCTATACGCCGCTAGAATTACAATACATAGAAATGAA
R
CAGCAGCACAAAGATGCAGTTTTGTGTGTGGAATGTGGATATAAGTATAGATTCTTTGGGGAAGATGCAGAGATTGCAGCCCGAGAGCTCAATATTTATT
Celera SNP ID:            hCV7602212
SNP Position Transcript:  722
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Japanese(A,77|G,102)      total(G,102|A,77) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 231, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:9900):
CACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCCGCAGCGCCCCCAGCGCCCGCCTTCCCGCCCCAGCTGCCGCCGCAC
R
TAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAAAGTAAAGAAAGTCCAACAAAAGGAAGGAGGAAGTGA
Celera SNP ID:            hCV27863089
SNP Position Transcript:  237
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 70, (I,ATA)   (V,GTA)      



Context             (SEQ ID NO:9901):
TCCTGAACTCCTCAGTCCAGTGGAGCATTACTTAAAGATACTCAATGAACAAGCTGCCAAAGTTGGGGATAAAACTGAATTATTTAAAGACCTTTCTGAC
Y
TCCCTTTAATAAAAAAGAGGAAGGATGAAATTCAAGGTGTTATTGACGAGATCCGAATGCATTTGCAAGAAATACGAAAAATACTAAAAAATCCTTCTGC
Celera SNP ID:            hCV11954176
SNP Position Transcript:  2127
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): NIH Coriel panel(T,83|C,-)      total(T,83) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 700, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:9902):
TTGATCTCAGTCAGTTTGGATCATCAAATACAAGTCATGAAAATTTACAGAAAACTGCTTCCAAATCAGCTAACAAACGGTCCAAAAGCATCTATACGCC
R
CTAGAATTACAATACATAGAAATGAAGCAGCAGCACAAAGATGCAGTTTTGTGTGTGGAATGTGGATATAAGTATAGATTCTTTGGGGAAGATGCAGAGA
Celera SNP ID:            hCV11434406
SNP Position Transcript:  695
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,6)   caucasian(A,2|G,36)   total(A,4|G,42)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 222, (P,CCA)   (P,CCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,24)   caucasian(A,1|G,37)   total(A,9|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 222, (P,CCA)   (P,CCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): NIH Coriel panel(A,25|G,60)      total(G,60|A,25) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 222, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:9903):
CCAAGAGTTCTTCTTGATTGTCAAAACTTTATATCACCTAAAGTCAGAATTTCAAGCAATAATACCTGCTGTTAATTCCCACATTCAGTCAGACTTGCTC
Y
GGACCGTTATTTTAGAAATTCCTGAACTCCTCAGTCCAGTGGAGCATTACTTAAAGATACTCAATGAACAAGCTGCCAAAGTTGGGGATAAAACTGAATT
Celera SNP ID:            hCV25619882
SNP Position Transcript:  2007
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 660, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:9904):
TTCTGGCATTGTTAACTTAGAGAAGCCTGTGATTTGCTCTTTGGCTGCCATCATAAAATACCTCAAAGAATTCAACTTGGAAAAGATGCTCTCCAAACCT
R
AGAATTTTAAACAGCTATCAAGTAAAATGGAATTTATGACAATTAATGGAACAACATTAAGGAATCTGGAAATCCTACAGAATCAGACTGATATGAAAAC
Celera SNP ID:            hCV25619890
SNP Position Transcript:  1569
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 514, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:9905):
TTGTCCGAGCAAACAGAGGCGCTCATCCACAGAGCCACATCTGTTAGTGTGCAGGATGACAGAATTCGAGTCGAAAGGATGGATAACATTTATTTTGAAT
R
CAGCCATGCTTTCCAGGCAGTTACAGAGTTTTATGCAAAAGATACAGTTGACATCAAAGGTTCTCAAATTATTTCTGGCATTGTTAACTTAGAGAAGCCT
Celera SNP ID:            hCV25619891
SNP Position Transcript:  1396
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 456, (Y,TAC)   (C,TGC)   



Context             (SEQ ID NO:9906):
TTACTCACACCAGGTGGGGAATTACCACATGGGATTCTTGGTCAGTGAGGATGAAAGCAAACTGGATCCAGGCGCAGCAGAACAAGTCCCTGATTTTGTC
R
CCTTCCTTTACCAAATAACTAGAGGAATTGCAGCAAGGAGTTATGGATTAAATGTGGCTAAACTAGCAGATGTTCCTGGAGAAATTTTGAAGAAAGCAGC
Celera SNP ID:            hCV7602162
SNP Position Transcript:  3162
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Japanese(G,39|A,140)      total(G,39|A,140) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 1045, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:9907):
ATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCCGCAGCGCCCCCAGCG
S
CCGCCTTCCCGCCCCAGCTGCCGCCGCACGTAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAAAGTAAA
Celera SNP ID:            hCV16231132
SNP Position Transcript:  207
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 60, (P,CCC)   (A,GCC)      



Context             (SEQ ID NO:9908):
TCCGCCAGTTTGTGAACTAGAAAAAAATTACTCACACCAGGTGGGGAATTACCACATGGGATTCTTGGTCAGTGAGGATGAAAGCAAACTGGATCCAGGC
R
CAGCAGAACAAGTCCCTGATTTTGTCACCTTCCTTTACCAAATAACTAGAGGAATTGCAGCAAGGAGTTATGGATTAAATGTGGCTAAACTAGCAGATGT
Celera SNP ID:            hCV800002
SNP Position Transcript:  3135
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,13)   caucasian(A,27|G,11)   total(A,48|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 1036, (T,ACA)   (A,GCA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)   JBIG-allele(G,389|A,1112)   total(G,389|A,1112)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 1036, (T,ACA)   (A,GCA)      1036, (A,GCA)   (T,ACA)      



Context             (SEQ ID NO:9909):
TTTGAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCCGCAGCG
S
CCCCAGCGCCCGCCTTCCCGCCCCAGCTGCCGCCGCACGTAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAA
Celera SNP ID:            hCV16231133
SNP Position Transcript:  198
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 57, (P,CCC)   (A,GCC)      



Context             (SEQ ID NO:9910):
GCTCAGATTGGCTCCTATGTTCCTGCAGAAGAAGCGACAATTGGGATTGTGGATGGCATTTTCACAAGGATGGGTGCTGCAGACAATATATATAAAGGAC
R
GAGTACATTTATGGAAGAACTGACTGACACAGCAGAAATAATCAGAAAAGCAACATCACAGTCCTTGGTTATCTTGGATGAACTAGGAAGAGGGACGAGC
Celera SNP ID:            hCV907914
SNP Position Transcript:  2848
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,10)   caucasian(A,8|G,30)   total(A,10|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 940, (Q,CAG)   (R,CGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,3)      total(G,3|A,1) ;NIH Coriel panel(A,4|G,77)      total(G,77|A,4);no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 940, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:9911):
AAGCGGTTTTGAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGC
Y
GCAGCGCCCCCAGCGCCCGCCTTCCCGCCCCAGCTGCCGCCGCACGTAGCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTG
Celera SNP ID:            hCV16231134
SNP Position Transcript:  191
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 54, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:9912):
ATGGGCCTGTTAAAAAGAAAGTAAAGAAAGTCCAACAAAAGGAAGGAGGAAGTGATCTGGGAATGTCTGGCAACTCTGAGCCAAAGAAATGTCTGAGGAC
Y
AGGAATGTTTCAAAGTCTCTGGAAAAATTGAAAGAATTCTGCTGCGATTCTGCCCTTCCTCAAAGTAGAGTCCAGACAGAATCTCTGCAGGAGAGATTTG
Celera SNP ID:            hCV26764027
SNP Position Transcript:  383
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1259, 118, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:9913):
GTTGACTGCATTTTCTCCCTGGCCAAGGTCGCTAAGCAAGGAGATTACTGCAGACCAACTGTACAAGAAGAAAGAAAAATTGTAATAAAAAATGGAAGGC
W
CCCTGTGATTGATGTGTTGCTGGGAGAACAGGATCAATATGTCCCAAATAATACAGATTTATCAGAGGACTCAGAGAGAGTAATGATAATTACCGGACCA
Celera SNP ID:            hCV25619910
SNP Position Transcript:  2593
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,1)   caucasian(A,40)   total(A,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1259, 855, (H,CAC)   (L,CTC)   



Context             (SEQ ID NO:9914):
TTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTTTACTAAAAATATAAAGTACATCTCTACTAAAAATACGAAAAAATTAGCTGGGCATGGTGGC
R
CACACCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCACGTCACTGCACTCC
Celera SNP ID:            hCV26764116
SNP Position Transcript:  4052
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,7)      total(G,7|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1259, None   



Gene Number:                 218
Celera Gene:                 hCG37123 - 145000147245512
Celera Transcript:           hCT2308629 - 145000147247541
Public Transcript Accession: NM_002439
Celera Protein:              hCP1807564 - 197000064940205
Public Protein Accession:    NP_002430
Gene Symbol:                 MSH3
Protein Name:                mutS homolog 3 (E. coli)
Celera Genomic Axis:         GA_x5YUV32W40L(9340634..9392781)
Chromosome:                  Chr5
OMIM number:                 600887
OMIM Information:            MutS, E. COLI, HOMOLOG OF, 3;MSH3


Transcript Sequence (SEQ ID NO:563):
AATTTTAAACAGCTATCAAGTAAAATGGAATTTATGACAATTAATGGAACAACATTAAGGAATCTGGAAATCCTACAGAATCAGAAGAAGGTTGGAAAGG
GTAGACACCAAGCTGGTCTCAGTAGTAACATCTGGGAAGGAGAGCTGAGAGTAGGGCAGGGCTCAGAGGTGCTTGAATACACAGCTAAAGCTGTAGATAA
AACAGATATAGAGGTCTTTAAAAAGCATAAAGAACATCAAGGTCAAAAAATGATTCTTGTATCAAAACCAACTGTACAAGAAGAAAGAAAAATTGTAATA
AAAAATGGAAGGCWCCCTGTGATTGATGTGTTGCTGGGAGAACAGGATCAATATGTCCCAAATAATACAGATTTATCA

Protein Sequence    (SEQ ID NO:1260):
MEFMTINGTTLRNLEILQNQKKVGKGRHQAGLSSNIWEGELRVGQGSEVLEYTAKAVDKTDIEVFKKHKEHQGQKMILVSKPTVQEERKIVIKNGRHPVI
DVLLGEQDQYVPNNTDLS


SNP Information

Context             (SEQ ID NO:9915):
GTCTTTAAAAAGCATAAAGAACATCAAGGTCAAAAAATGATTCTTGTATCAAAACCAACTGTACAAGAAGAAAGAAAAATTGTAATAAAAAATGGAAGGC
W
CCCTGTGATTGATGTGTTGCTGGGAGAACAGGATCAATATGTCCCAAATAATACAGATTTATCA
Celera SNP ID:            hCV25619910
SNP Position Transcript:  314
SNP Source:               Applera
Population(Allele,Count): african american(A,17|T,1)   caucasian(A,40)   total(A,57|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1260, 97, (H,CAC)   (L,CTC)   



Gene Number:                 219
Celera Gene:                 hCG37187 - 146000220350063
Celera Transcript:           hCT28417 - 146000220350064
Public Transcript Accession: NM_000271
Celera Protein:              hCP47700 - 197000069426589
Public Protein Accession:    NP_000262
Gene Symbol:                 NPC1
Protein Name:                Niemann-Pick disease, type C1;NPC
Celera Genomic Axis:         GA_x5YUV32W66L(2595858..2650984)
Chromosome:                  Chr18
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:564):
CCTGCTCCTGCTCCTCCGCTCCTCCTGCGCGGGGTGCTGAAACAGCCCGGGGAAGTAGAGCCGCCTCCGGGGAGCCCAACCAGCCGAACGCCGCCGGCGT
CMGCAGCCTTGCGCGGCCACAGCATGACCGCTCGCGGCCTGGCCCTTGGCCTCCTCCTGCTGCTACTGTGTCCAGCGCAGGTGTTTTCACAGTCCTGTGT
TTGGTATGGAGAGTGTGGAATTGCATATGGGGACAAGAGGTACAATTGCGAATATTCTGGCCCACCAAAACCATTGCCAAAGGATGGATATGACTTAGTG
CAGGAACTCTGTCCAGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTACRGT
TTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACAYGTAGCCCTYGACAGAGTCAGTTTTTGAATGTTACAGCTAC
TGAAGATTAYGTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCC
TGCCGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTGKRTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACA
TGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTMAGATTTTCCAGTCCRTGGGATGGAGCCCATGAACAATGCCACCAAAGG
CTGTGACGAGTCTGKGGATGAGGTCACAGCAYCATGTAGCTGCCAASACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCC
TGGACGATCCTTGGCTTGGACGCCATGTATGTCATCAKGTGGATCACCTACATGGCGTTTTTGCTTGTGTTTTTTGGAGCATTTTTTGCAGTGTGGTGCT
ACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCAAGTGACAAAGGAGAGGCGTCYTGCTGTGACCC
TGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCTTCTCRCTGGTC
TTCATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGYTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAG
AGTACTTTGACCAGCACTTTGGGCCTTTCTTCCRGACGGAGCAGCTCATCATCCGGGCCCCTCTCACTGACAAACACATTTACCAGCCATACCCTTCGGG
AGCTGATGTACCCTTTGGACCTYCGCTTGACATACAGATACTGCACCAGGTTCTTGACTTACAAATAGCCATCGAAAACATTACTGCCTCTTATGACAAT
GAGACTGTGACACTTCAAGACATCTGCTTGGCCCCTCTTYCACCGTATAACACGAACTGCACCATTTTGAGTGTGTTAAATTACTTCCAGAACAGCCATT
CCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTATGCCGATTACCACACGCRCTTTCTGTACTGCGTAYGGGCTCCTGCCTCTCTGAATGATAC
AAGTTTGCTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTTGTGTTGGGAGGCTATGATGATCAAAACTACAATAACGCCACT
GCCCTTGTGATTACCTTCCCTGTCAATAATTACTATAATGATACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATTAATTTTGTGAAAA
ACTACAAGAATCCCAATCTGACCATTTCCTTCACTGYTGAAYGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAAT
TAGCTATGCCATCAKGTTTCTATATATTTCCCTAGCCTTGGGGCACATSAAAAGCTGTCGCAGGCTTCTGGTGGATTCGAAGGTCTCACTAGGCATCGCG
GGCATCTTGATCGTGCTGAGCTCGGTGGCTTGSTCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCC
TGGTGCTGGCTGTTGGAGTGGACAAYATCTYCATTCTGGTGCAGGCCTACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGCYGGGCAG
GGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCATCCTTTTCTGAGACTGTAGCATTTTTYTTAGGAGCATTGTCCGTGATGCCAGCCGTGCACACC
TTCTCTCTCTTTGCGGGATTGGCAGTCTTCATTGACTTTCTTCTGCMGATTACCTGTTTCGTGAGTCTCTTGGGGTTAGACATTAAACGTCAAGAGAAAA
ATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCTSAGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCTRTTC
TCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATRTTGGA
TTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGGWTTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCRCCTRTGTACTTTGTCC
TGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCRGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGC
GGCGCMGCTGGACAAYTATACCCRAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCRACTGGRTGAAGCCACAGTYGTCTTRCTGTCGAGTG
GACARTATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTYGCTGCAGGCCTCTGACTCCGGAARGCAAACAGAGGCCTCAGKGGG
GAGACTTCAKGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCT
CCTTGGCCATGGCACCAGGGTCGGAGYCAYGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACRCTCTGAAGAAAGCCCGA
CTTAYAGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTTCTRCGAACAGTACCTGA
CCATCATTGACGACACTATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGACCATGKTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCAT
CATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTAYGTRGCTCTGGGGCATCAGTCTGAAYGCTGTATCCTTGGTCARCCTGGTGATG
AGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCRTGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCC
ACATGGGCAGCTCCGTGTTCRGTGGAATCACACTTASAAAATTTGGAGGGATTGTGGTGKTSGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTT
CAGGATGTATTTGGCCATGGTCTTACTGGRAGCCACTCAYGGATTAATATTTCTYCCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAA
AGTTGTGCCACTGAAGAGCRATACAAAGGAACAGAGCGCGAACGGCTTCTAAATTTCTAGCCCTCTCGCAGGGCATCCTGACTGAACTGTGTCTAAGGGT
CGGTCGGTTTACCACTGGACGGGTGCTGCATCGGCAAGGCCAAGTTGAACACCGGATGGTGCCAACCATCGGTTGTTTGGCAGCAGCTTTGAACGTAGCG
CCTGTGAACTCAGGAATGCACAGYTGACTTGGGAAGCAGTATTACTAGATCTGGAGGCAACCACAGGACACTAAACTTCTCCCAGCCTCTTCAGGAAAGA
AACCTCATTCTTTGGCAAGCAGGAGGTGACACTAGATGGCTGTGAATGTGATCCGCTCACTGACACTCTGTAAAGGCCAATCAATGCACTGTCTGTCTCT
CCTTTTAGGAGTAAGCCATCCCACAAGTTCTATACCATATTTTTAGTGACAGTTGAGGTTGTAGATACACTTTATAACATTTTATAGTTTAAAGAGCTTT
ATTAATGCAATAAATTAACTTTGTACACATTTTTATATAAAAAAACAGCAAGTGATTTCAGAATGTTGTAGGCCTCATTAGAGCTTGGTCTCCAAAAATC
TGTTTGAAAAAAGCAACATGTTCTTCACAGTGTTCCCCTAGAAAGGAAGAGATTTAATTGCCAGTTAGATGTGGCATGAAATGAGGGACAAAGAAAGCAT
CTCGTAGGTGTGTCTACTGGGTTTTAACTTATTTTTCTTTAATAAAATACATTGTTTTCCTAA

Protein Sequence    (SEQ ID NO:1261):
MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSC
FYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQ
APFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFG
PFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKG
DDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHIKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVD
NIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCC
VRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLP
MFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIF
NLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF


SNP Information

Context             (SEQ ID NO:9916):
ACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTA
S
AAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACT
Celera SNP ID:            hCV27863254
SNP Position Transcript:  3737
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1205, (T,ACA)   (R,AGA)      



Context             (SEQ ID NO:9917):
TTTCTGGTGACCATGGTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGT
R
GCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACG
Celera SNP ID:            hCV27004477
SNP Position Transcript:  3551
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1143, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:9918):
ATATTTCTGGTGACCATGGTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTA
Y
GTGGCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTC
Celera SNP ID:            hCV27004478
SNP Position Transcript:  3548
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1142, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9919):
TTCTGCAGTTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAGCCACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGAC
R
CTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTT
Celera SNP ID:            hCV27004479
SNP Position Transcript:  3283
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1054, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:9920):
TGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGTGGCTCTGGGGCATCAGTCTGAA
Y
GCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCG
Celera SNP ID:            hCV25620725
SNP Position Transcript:  3573
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 1150, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:9921):
CAGTGTGTTTTATGTCTTCTACGAACAGTACCTGACCATCATTGACGACACTATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGACCATG
K
TCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGTGGCTCTGGGGCATCAG
Celera SNP ID:            hCV25620726
SNP Position Transcript:  3466
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,40)   total(G,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1115, (V,GTC)   (F,TTC)   



Context             (SEQ ID NO:9922):
TTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTCTATATATTTCCCTAGCCTTGGGGCACAT
S
AAAAGCTGTCGCAGGCTTCTGGTGGATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGATCGTGCTGAGCTCGGTGGCTTGCTCCTTGGGTGTCTTCA
Celera SNP ID:            hCV7490119
SNP Position Transcript:  2049
SNP Source:               Applera
Population(Allele,Count): african american(C,26|G,6)   caucasian(C,11|G,7)   total(C,37|G,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 642, (I,ATC)   (M,ATG)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 642, (I,ATC)   (M,ATG)      



Context             (SEQ ID NO:9923):
AGTAGATATTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCT
R
TGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGCAGCA
Celera SNP ID:            hCV1016953
SNP Position Transcript:  2788
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 889, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9924):
ACTGCACCAGGTTCTTGACTTACAAATAGCCATCGAAAACATTACTGCCTCTTATGACAATGAGACTGTGACACTTCAAGACATCTGCTTGGCCCCTCTT
Y
CACCGTATAACACGAACTGCACCATTTTGAGTGTGTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTA
Celera SNP ID:            hCV1016955
SNP Position Transcript:  1540
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 473, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:9925):
TTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAG
Y
CACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACC
Celera SNP ID:            hCV27004480
SNP Position Transcript:  3227
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1035, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:9926):
TACCATCACTCCTGTGTTTTCAGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCA
Y
CATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGT
Celera SNP ID:            hCV1016956
SNP Position Transcript:  832
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 237, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:9927):
CTGCTCCTGCTCCTCCGCTCCTCCTGCGCGGGGTGCTGAAACAGCCCGGGGAAGTAGAGCCGCCTCCGGGGAGCCCAACCAGCCGAACGCCGCCGGCGTC
M
GCAGCCTTGCGCGGCCACAGCATGACCGCTCGCGGCCTGGCCCTTGGCCTCCTCCTGCTGCTACTGTGTCCAGCGCAGGTGTTTTCACAGTCCTGTGTTT
Celera SNP ID:            hCV15972833
SNP Position Transcript:  102
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,2)   caucasian(A,4)   total(A,16|C,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1261, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1261, None   



Context             (SEQ ID NO:9928):
AGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAG
K
GGGGAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACAT
Celera SNP ID:            hCV27004481
SNP Position Transcript:  3097
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)   no_pop(G,-|C,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 992, (W,TGG)   (G,GGG)      992, (G,GGG)      992, (G,GGG)   (W,TGG)      



Context             (SEQ ID NO:9929):
GTTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTG
K
GTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTC
Celera SNP ID:            hCV1016958
SNP Position Transcript:  652
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 177, (G,GGT)   (C,TGT)      



Context             (SEQ ID NO:9930):
ACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAA
R
GCAAACAGAGGCCTCAGGGGGGAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTA
Celera SNP ID:            hCV27004482
SNP Position Transcript:  3079
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 986, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:9931):
TGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGG
R
TGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGAC
Celera SNP ID:            hCV27004483
SNP Position Transcript:  2971
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 950, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:9932):
CTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAGCCA
Y
GTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATG
Celera SNP ID:            hCV27536890
SNP Position Transcript:  3230
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1036, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:9933):
AAAAATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCTCAGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCT
R
TTCTCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATATT
Celera SNP ID:            hCV27004484
SNP Position Transcript:  2597
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 825, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:9934):
GAGACTGTAGCATTTTTCTTAGGAGCATTGTCCGTGATGCCAGCCGTGCACACCTTCTCTCTCTTTGCGGGATTGGCAGTCTTCATTGACTTTCTTCTGC
M
GATTACCTGTTTCGTGAGTCTCTTGGGGTTAGACATTAAACGTCAAGAGAAAAATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACA
Celera SNP ID:            hCV27004485
SNP Position Transcript:  2447
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 775, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:9935):
GATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTA
Y
GTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATG
Celera SNP ID:            hCV3204030
SNP Position Transcript:  510
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,32)   caucasian(C,5|T,35)   total(C,9|T,67)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 129, (Y,TAC)   (Y,TAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,31)   caucasian(C,5|T,33)   total(C,10|T,64)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 129, (Y,TAC)   (Y,TAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|T,5)   total(C,2|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 129, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:9936):
CCGTTCCTGGTGCTGGCTGTTGGAGTGGACAACATCTTCATTCTGGTGCAGGCCTACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGC
Y
GGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCATCCTTTTCTGAGACTGTAGCATTTTTCTTAGGAGCATTGTCCGTGATGCCAGCCGTG
Celera SNP ID:            hCV27004486
SNP Position Transcript:  2294
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 724, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:9937):
TAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCTGGTGGATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGATCGTGCTGAGCTCGGTGGCTTG
S
TCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCTGGCTGTTGGAGTGGACAACATCTTCA
Celera SNP ID:            hCV27004487
SNP Position Transcript:  2133
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 670, (C,TGC)   (W,TGG)      



Context             (SEQ ID NO:9938):
AATCTGACCATTTCCTTCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCA
K
GTTTCTATATATTTCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCTGGTGGATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGATCGTG
Celera SNP ID:            hCV27004488
SNP Position Transcript:  2015
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 631, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:9939):
TACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATTAATTTTGTGAAAAACTACAAGAATCCCAATCTGACCATTTCCTTCACTGCTGAA
Y
GAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTCTATATATTTCCCTAGCCTTGGG
Celera SNP ID:            hCV27004489
SNP Position Transcript:  1942
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 607, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9940):
ACACTTACAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGG
R
AGCCACTCACGGATTAATATTTCTCCCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGCGATACAAAGGA
Celera SNP ID:            hCV27528119
SNP Position Transcript:  3830
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1236, (E,GAA)   (G,GGA)      



Context             (SEQ ID NO:9941):
GCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACA
Y
GTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATA
Celera SNP ID:            hCV28016636
SNP Position Transcript:  460
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 113, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:9942):
CAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACA
R
TATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGAC
Celera SNP ID:            hCV25620739
SNP Position Transcript:  3005
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 961, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:9943):
CAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTC
R
ACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCC
Celera SNP ID:            hCV27532182
SNP Position Transcript:  2965
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 948, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:9944):
GTGAGTCTCTTGGGGTTAGACATTAAACGTCAAGAGAAAAATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCT
S
AGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCTATTCTCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTG
Celera SNP ID:            hCV27530903
SNP Position Transcript:  2561
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 813, (S,TCA)   (X,TGA)      



Context             (SEQ ID NO:9945):
AATGATACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATTAATTTTGTGAAAAACTACAAGAATCCCAATCTGACCATTTCCTTCACTG
Y
TGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTCTATATATTTCCCTAGCC
Celera SNP ID:            hCV27004490
SNP Position Transcript:  1937
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 605, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:9946):
GTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAGAGTACTTTGACCAGCACTTTGGGCCTTTCTTCC
R
GACGGAGCAGCTCATCATCCGGGCCCCTCTCACTGACAAACACATTTACCAGCCATACCCTTCGGGAGCTGATGTACCCTTTGGACCTCCGCTTGACATA
Celera SNP ID:            hCV27004493
SNP Position Transcript:  1334
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 404, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:9947):
TTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCTTCTCGCTGGTCTTCATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAG
Y
TGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAGAGTACTTTGACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTCATCATCCGG
Celera SNP ID:            hCV27004494
SNP Position Transcript:  1256
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 378, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:9948):
ACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGACTTCA
K
GAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCTCCTTGGCCAT
Celera SNP ID:            hCV27535999
SNP Position Transcript:  3110
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 996, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:9949):
TGCTGCATCGGCAAGGCCAAGTTGAACACCGGATGGTGCCAACCATCGGTTGTTTGGCAGCAGCTTTGAACGTAGCGCCTGTGAACTCAGGAATGCACAG
Y
TGACTTGGGAAGCAGTATTACTAGATCTGGAGGCAACCACAGGACACTAAACTTCTCCCAGCCTCTTCAGGAAAGAAACCTCATTCTTTGGCAAGCAGGA
Celera SNP ID:            hCV29312118
SNP Position Transcript:  4124
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1261, None   



Context             (SEQ ID NO:9950):
CTATTCTCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGAT
R
TTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTACTT
Celera SNP ID:            hCV7490135
SNP Position Transcript:  2695
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 858, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:9951):
ACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAA
Y
TATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACC
Celera SNP ID:            hCV7490136
SNP Position Transcript:  2916
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,19|T,19)   total(C,45|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 931, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 931, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9952):
GCCTTTCTTCCGGACGGAGCAGCTCATCATCCGGGCCCCTCTCACTGACAAACACATTTACCAGCCATACCCTTCGGGAGCTGATGTACCCTTTGGACCT
Y
CGCTTGACATACAGATACTGCACCAGGTTCTTGACTTACAAATAGCCATCGAAAACATTACTGCCTCTTATGACAATGAGACTGTGACACTTCAAGACAT
Celera SNP ID:            hCV25620676
SNP Position Transcript:  1423
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 434, (P,CCG)   (S,TCG)   



Context             (SEQ ID NO:9953):
AAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTACAAAATTTGGAGGGATTGTGGTGTT
S
GCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGTCT
Celera SNP ID:            hCV1016937
SNP Position Transcript:  3762
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1213, (F,TTC)   (L,TTG)      



Context             (SEQ ID NO:9954):
GTGCAGGAACTCTGTCCAGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTAC
R
GTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCT
Celera SNP ID:            hCV27863243
SNP Position Transcript:  398
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 92, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:9955):
TGTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTT
M
AGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGC
Celera SNP ID:            hCV27863244
SNP Position Transcript:  752
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 210, (X,TAA)   (S,TCA)      



Context             (SEQ ID NO:9956):
TGCACCATTTTGAGTGTGTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTATGCCGATTACCACACGC
R
CTTTCTGTACTGCGTACGGGCTCCTGCCTCTCTGAATGATACAAGTTTGCTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTT
Celera SNP ID:            hCV27863245
SNP Position Transcript:  1658
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 512, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:9957):
GTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTATGCCGATTACCACACGCACTTTCTGTACTGCGTA
Y
GGGCTCCTGCCTCTCTGAATGATACAAGTTTGCTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTTGTGTTGGGAGGCTATGA
Celera SNP ID:            hCV27863246
SNP Position Transcript:  1675
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 518, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:9958):
TGCTCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCTGGCTGTTGGAGTGGACAACATCT
Y
CATTCTGGTGCAGGCCTACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTC
Celera SNP ID:            hCV27863247
SNP Position Transcript:  2231
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 703, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:9959):
ATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATATTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGG
W
TTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATG
Celera SNP ID:            hCV27863248
SNP Position Transcript:  2744
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 874, (D,GAT)   (V,GTT)      



Context             (SEQ ID NO:9960):
GAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGC
M
GCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAAT
Celera SNP ID:            hCV27863249
SNP Position Transcript:  2906
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 928, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:9961):
TGGCTTGCTCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCTGGCTGTTGGAGTGGACAA
Y
ATCTTCATTCTGGTGCAGGCCTACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTA
Celera SNP ID:            hCV29312121
SNP Position Transcript:  2226
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 701, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:9962):
ACTAAAAGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCT
Y
GACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATACTACGTCGG
Celera SNP ID:            hCV27860302
SNP Position Transcript:  469
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 116, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:9963):
GACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCAGATTTTCCAGTCC
R
TGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGC
Celera SNP ID:            hCV25472673
SNP Position Transcript:  767
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,3)   caucasian(A,21|G,17)   total(A,56|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 215, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 215, (H,CAT)   (R,CGT)      215, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:9964):
CAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGT
Y
GTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAA
Celera SNP ID:            hCV27529698
SNP Position Transcript:  2984
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 954, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:9965):
GAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTACAAAATTTGGAGGGATTGTGGTG
K
TGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGT
Celera SNP ID:            hCV27529699
SNP Position Transcript:  3760
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1213, (V,GTG)   (L,TTG)      



Context             (SEQ ID NO:9966):
GTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTC
R
GTGGAATCACACTTACAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGT
Celera SNP ID:            hCV25620713
SNP Position Transcript:  3721
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1200, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:9967):
AATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCAGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTG
K
GGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGC
Celera SNP ID:            hCV27860303
SNP Position Transcript:  815
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 231, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:9968):
AATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCA
Y
GGATTAATATTTCTCCCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGCGATACAAAGGAACAGAGCGCG
Celera SNP ID:            hCV25620714
SNP Position Transcript:  3840
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,38)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 1239, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:9969):
GGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGC
R
TGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTACAAAATTTGGAGGGATTGTGGT
Celera SNP ID:            hCV25620715
SNP Position Transcript:  3658
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1179, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,1)   caucasian(A,2)   total(A,31|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1179, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:9970):
GTCTTCAAGGGGAAACCCTGGATCAGCAGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCATCCTTTTCTGAGACTGTAGCATTTTT
Y
TTAGGAGCATTGTCCGTGATGCCAGCCGTGCACACCTTCTCTCTCTTTGCGGGATTGGCAGTCTTCATTGACTTTCTTCTGCAGATTACCTGTTTCGTGA
Celera SNP ID:            hCV16023280
SNP Position Transcript:  2364
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 747, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:9971):
ATCCATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGC
R
GCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGA
Celera SNP ID:            hCV25620750
SNP Position Transcript:  2854
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 911, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:9972):
ACAAAGTAGATATTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCC
R
CCTGTGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGC
Celera SNP ID:            hCV25620751
SNP Position Transcript:  2784
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 887, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:9973):
TGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCACGGATTAATATTTCT
Y
CCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGCGATACAAAGGAACAGAGCGCGAACGGCTTCTAAATT
Celera SNP ID:            hCV7490145
SNP Position Transcript:  3855
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 1244, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:9974):
GTCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGC
R
ATACAAAGGAACAGAGCGCGAACGGCTTCTAAATTTCTAGCCCTCTCGCAGGGCATCCTGACTGAACTGTGTCTAAGGGTCGGTCGGTTTACCACTGGAC
Celera SNP ID:            hCV7490146
SNP Position Transcript:  3920
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1266, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:9975):
AGCTGCCAAGACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGTCATCA
K
GTGGATCACCTACATGGCGTTTTTGCTTGTGTTTTTTGGAGCATTTTTTGCAGTGTGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATC
Celera SNP ID:            hCV27004505
SNP Position Transcript:  938
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 272, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:9976):
GTTTTCAGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAA
S
ACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGTCATCATGTGGATCAC
Celera SNP ID:            hCV27004506
SNP Position Transcript:  847
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 242, (H,CAC)   (D,GAC)      



Context             (SEQ ID NO:9977):
TTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTGT
R
TGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCA
Celera SNP ID:            hCV27004507
SNP Position Transcript:  653
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 177, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:9978):
GGCCATGGCACCAGGGTCGGAGCCACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTA
Y
AGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTTCTACGAACAGTACCTGACCATC
Celera SNP ID:            hCV1016943
SNP Position Transcript:  3305
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1061, (T,ACA)   (I,ATA)      



Context             (SEQ ID NO:9979):
GTGACCCTGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCTTCTC
R
CTGGTCTTCATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGG
Celera SNP ID:            hCV25620686
SNP Position Transcript:  1194
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 357, (S,TCA)   (S,TCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,38)   total(A,1|G,75)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 357, (S,TCA)   (S,TCG)   



Context             (SEQ ID NO:9980):
CAGTGTGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCAAGTGACAAAGGAGAGGCGTC
Y
TGCTGTGACCCTGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCT
Celera SNP ID:            hCV25620687
SNP Position Transcript:  1089
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,40)   total(C,75|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1261, 322, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:9981):
TCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCC
R
AATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGC
Celera SNP ID:            hCV27863250
SNP Position Transcript:  2924
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 934, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:9982):
ATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTT
R
CTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGG
Celera SNP ID:            hCV1016947
SNP Position Transcript:  2990
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 956, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:9983):
CGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTT
Y
GCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTG
Celera SNP ID:            hCV27863251
SNP Position Transcript:  3055
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 978, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:9984):
CTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTTCT
R
CGAACAGTACCTGACCATCATTGACGACACTATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGACCATGGTCCTCCTGGGCTGTGAGCTC
Celera SNP ID:            hCV27863252
SNP Position Transcript:  3386
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1088, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:9985):
TCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGTGGCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCA
R
CCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAG
Celera SNP ID:            hCV27863253
SNP Position Transcript:  3590
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1261, 1156, (N,AAC)   (S,AGC)      



Gene Number:                 220
Celera Gene:                 hCG37247 - 63000132640896
Celera Transcript:           hCT28479 - 63000132640897
Public Transcript Accession: 
Celera Protein:              hCP47273 - 197000064955158
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VTD9(8067596..8069006)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:565):
ATGGCCCTAGGCCCATGCCGCCCAGTGAAGGTGAAAAAGGAGGAGGAGGAAGAAGAAAACTTCCCAGATCAGGCATCCAGCCAACAAGTGCACTCTGAGA
ACATCAAAGTCTGGGCCCCAGGGGAGTTTCGTCAGACAGGCCTTGATGGATCAGAAGAGGAAGAAAAGGTGCTGAAACCAAGAACCTTCAGTTACTGGTT
CCAAAAACTGAGATACGTGAGGAAGCTGAAAACCCCCGCATCATATTAGGAAGAATCCAGAAAGCTGATCCTTAAGGACCTGAGTTAAGAGAGGCTTGTG
AAAAAGAAAACATGTTAAAGAGGCAGAGAATAAGGAGGGAAAGGAAAGATTTCAGATAAGTSATAKTGAATGACTGTCACTTACCTGAAAGCTTCAAAGA
AGAGGAAGACCAGAAATGTARGAAATCTGTGGGAAAATACAGCCTTAATTCTGACACTGTTAACAATCCGAAAACCCAGCTTGGGCGAAAGTCTTTTACA
TTGTAGCATGTGTGGGAAAGGATTTAGTCAGAGTGCAAACCTCGTTGTGCATCAGAGAATCCACACCGGGGAGAAACCTTTTGAATGTCATGAGTGTGGG
AAGGCCTTCATTCAGAGTGCAAAGCTCGATGTGCATCAGAGAATCCACACTGGACAGAAACCTTATGTTTGCTCAAAATGTGGGAAAGCCTTCAATCAGA
GTTCAAATCTGACTGTATATCAAAAAAACCTCTCCTTAGAAAAAACCTTTAGGCGTAGTAAATGTGAGAAAGCCTTTAGTTATAGCTCACAACTTGCTCG
GCACCAGAAACTCCACATTACAGAAAAATGCTGTAAATGTAATGAGTGTCGGAAAACATTTACTGGGAGCTCAAACCATATTGTCCACCAGAGGATCCAC
ACTGGGGAGAAGCCCTCTGCCTGTAACGAYTCTGGCAAAGCCTTTAYGCAGATTGCAAATCTTATTGTACATCAGCGAAGCCATACTGGTGAGAAGCCAT
ATGAGTAGAAACCTTATGACTGCAGTGAATGTGGGCAAGCCTTCAGTCAGCTCTCTTGCCTTTTTGTCCACCAGARAATTCACAGTGGAGATCTTCCTTT
TGTGTGTAATGAATGTGGGAAGGCCTTCACATGTAGCTCATACCTACTTATTCATCAGAGAATCCATAATGGAGAAAAACCTTACATGTGTAATGAGTGT
GGGAAGGCCTTCAGACAGAGGTTGAGCCTCACGGTGCACCAGAGAACCCACACTGGGGAGAAGCCCTATGAATATAAGAAGTGTGGTGCAGCTTTCATTT
CCAACTCACACCTCATGCGACACCACAGAACCCATCTTGTTGAA

Protein Sequence    (SEQ ID NO:1262):
MTVTYLKASKKRKTRNVRNLWENTALILTLLTIRKPSLGESLLHCSMCGKGFSQSANLVVHQRIHTGEKPFECHECGKAFIQSAKLDVHQRIHTGQKPYV
CSKCGKAFNQSSNLTVYQKNLSLEKTFRRSKCEKAFSYSSQLARHQKLHITEKCCKCNECRKTFTGSSNHIVHQRIHTGEKPSACNDSGKAFMQIANLIV
HQRSHTGEKPYE


SNP Information

Context             (SEQ ID NO:9986):
GCTGTAAATGTAATGAGTGTCGGAAAACATTTACTGGGAGCTCAAACCATATTGTCCACCAGAGGATCCACACTGGGGAGAAGCCCTCTGCCTGTAACGA
Y
TCTGGCAAAGCCTTTATGCAGATTGCAAATCTTATTGTACATCAGCGAAGCCATACTGGTGAGAAGCCATATGAGTAGAAACCTTATGACTGCAGTGAAT
Celera SNP ID:            hCV29337245
SNP Position Transcript:  930
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1262, 187, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:9987):
TGATCCTTAAGGACCTGAGTTAAGAGAGGCTTGTGAAAAAGAAAACATGTTAAAGAGGCAGAGAATAAGGAGGGAAAGGAAAGATTTCAGATAAGTCATA
K
TGAATGACTGTCACTTACCTGAAAGCTTCAAAGAAGAGGAAGACCAGAAATGTAAGAAATCTGTGGGAAAATACAGCCTTAATTCTGACACTGTTAACAA
Celera SNP ID:            hCV25933827
SNP Position Transcript:  366
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(G,29|T,1)   total(G,59|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1262, None



Context             (SEQ ID NO:9988):
AAGCTGATCCTTAAGGACCTGAGTTAAGAGAGGCTTGTGAAAAAGAAAACATGTTAAAGAGGCAGAGAATAAGGAGGGAAAGGAAAGATTTCAGATAAGT
S
ATAGTGAATGACTGTCACTTACCTGAAAGCTTCAAAGAAGAGGAAGACCAGAAATGTAAGAAATCTGTGGGAAAATACAGCCTTAATTCTGACACTGTTA
Celera SNP ID:            hCV15957424
SNP Position Transcript:  362
SNP Source:               Applera
Population(Allele,Count): african american(C,17|G,7)   caucasian(C,14|G,6)   total(C,31|G,13)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1262, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1262, None   



Context             (SEQ ID NO:9989):
CGAAGCCATACTGGTGAGAAGCCATATGAGTAGAAACCTTATGACTGCAGTGAATGTGGGCAAGCCTTCAGTCAGCTCTCTTGCCTTTTTGTCCACCAGA
R
AATTCACAGTGGAGATCTTCCTTTTGTGTGTAATGAATGTGGGAAGGCCTTCACATGTAGCTCATACCTACTTATTCATCAGAGAATCCATAATGGAGAA
Celera SNP ID:            hCV25939531
SNP Position Transcript:  1076
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1262, None



Context             (SEQ ID NO:9990):
AGGCAGAGAATAAGGAGGGAAAGGAAAGATTTCAGATAAGTCATAGTGAATGACTGTCACTTACCTGAAAGCTTCAAAGAAGAGGAAGACCAGAAATGTA
R
GAAATCTGTGGGAAAATACAGCCTTAATTCTGACACTGTTAACAATCCGAAAACCCAGCTTGGGCGAAAGTCTTTTACATTGTAGCATGTGTGGGAAAGG
Celera SNP ID:            hCV25935677
SNP Position Transcript:  421
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,39|G,1)   total(A,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1262, 18, (R,AGA)   (G,GGA)   



Context             (SEQ ID NO:9991):
TGTCGGAAAACATTTACTGGGAGCTCAAACCATATTGTCCACCAGAGGATCCACACTGGGGAGAAGCCCTCTGCCTGTAACGATTCTGGCAAAGCCTTTA
Y
GCAGATTGCAAATCTTATTGTACATCAGCGAAGCCATACTGGTGAGAAGCCATATGAGTAGAAACCTTATGACTGCAGTGAATGTGGGCAAGCCTTCAGT
Celera SNP ID:            hCV1567445
SNP Position Transcript:  947
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,11)   caucasian(C,21|T,5)   total(C,40|T,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1262, 193, (T,ACG)   (M,ATG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,4)      total(C,3|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1262, 193, (T,ACG)   (M,ATG)      



Gene Number:                 221
Celera Gene:                 hCG37451 - 93000022561656
Celera Transcript:           hCT2281032 - 93000022561704
Public Transcript Accession: NM_006293
Celera Protein:              hCP1804067 - 197000064936708
Public Protein Accession:    NP_006284
Gene Symbol:                 TYRO3
Protein Name:                TYRO3 protein tyrosine kinase;BYK;RSE
Celera Genomic Axis:         GA_x5YUV32W323(8901927..8922273)
Chromosome:                  Chr15
OMIM number:                 600341
OMIM Information:            TYRO3 PROTEIN TYROSINE KINASE;TYRO3


Transcript Sequence (SEQ ID NO:566):
CATGAATCAGCGGCGGCGACGGCGGCGACGGCAGTGGAAGGAGCGCGGTGGCGCGGGAGCGGCCCCGGGGACCCCGCGCTGCTGACGGCGGCGACCGCGG
CCGGAGGCGGGCGCGGGTCTCGGAGGCGGTCGCCTCAGCACCGCCCCACGGGCGGCCCCAGCCCCTCCCGCAGCCCTCCTCCCTCCCGCTCCCTTCCCGC
CGCCTCCTCCCCGCCCTCCTCCCTCCTCGCTCGCGGGCCGGGCCCGGCATGGTGCGGCGTCGCCGCCGATGGCGCTGAGGCGGAGCATGGGGCGGCCGGG
GCTCCCGCCGCTGCCGCTGCCGCCGCCACCGCGGCTCGGGCTGCTGCTGGCGGCTCTGGCTTCTCTGCTGCTCCCGGAGTCCGCCGCCGCAGGTCTGAAG
CTCATGGGAGCCCCGGTGAAGCTGACAGTGTCTCAGGGGCAGCCGGTGAAGCTCAACTGCAGTGTGGAGGGGATGGAGGAGCCTGACATCCAGTGGGTGA
AGGATGGGGCTGTGGTCCAGAACTTGGACCAGTTGTACATCCCAGTCAGCGAGCAGCACTGGATCGGCTTCCTCAGCCTGAAGTCAGTGGAGCGCTCTGA
CGCCGGCCGGTACTGGTGCCAGGTGGAGGATGGGGGTGAAACCGAGATCTCCCAGCCAGTGTGGCTCACGGTAGAAGGTGTGCCATTTTTCACAGTGGAG
CCAAAAGATCTGGCAGTGCCACCCAATGCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTA
CGAAGATCGGGGGACCYGCTCCCTCTCCATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCT
GGCCTCTTCTCGCACAGCCACTGTTCACCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCC
TGGATGCCAGGTGCYGATGGCCGAGCTCTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTG
TGCCCCCCTTTACCTGCCTGCTCCGGGACCTGGTGCCTGCCACCAACTACAGCCTCAGGGTGCGCTGTGCCAATGCCTTGGGGCCCTCTCCCTATGCTGA
CTGGGTGCCCTTTCAGACCAAGGGTCTAGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAA
GTGAWCCCCGAGGCCCCTTTGGAAGGCCCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCA
GGGCCAATTTGACAGGCTGGGATCCCCAAAAGGACCTGATCGTACGTGTGTGCGTCTCCAATGCAGTTGGCTGTGGACCCTGGAGTCAGCCACTGGTGGT
CTCTTCTCATGACCGTGCAGGCCAGCAGGGCCCTCCTCACAGCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCT
GCCCTGGCCCTCATCCTGCTTCGAAAGAGACGGAAAGAGACRCGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCC
GGGCAGCCCGGTCCTTCAATCGAGAAAGGCCCGAGCGCATCGAGGCCACATTGGACAGCTTGGGCATCAGCGATGAACTAAAGGAAAAACTGGAGGATGT
GCTCATCCCAGAGCAGCAGTTCACCCTGGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTT
GKGAAAGTGGCTGTGAAGATGCTGAAAGCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATC
CACACGTGGCCAAACTTGTTGGGGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCATGGTCATCTTGCCCTTCATGAAGCATGGGGACCT
GCATGCCTTCCTGCTCGCCTCCCGGATTGGGGAGAACCCCTTTAACCTACCCCTCCAGACCCTGATCCGGTTCATGGTGGACATTGCCTGCGGCATGGAG
TACCTGAGCTCTCGGAACTTCATCCACCGAGACCTGGCTGCTCGGAATTGCATGCTGGCAGAGGACATGACAGTGTGTGTGGCTGACTTCGGACTCTCCC
GGAAGATCTACAGTGGGGACTACTATCGTCAAGGCTGTGCCTCCAAACTGCCTGTCAAGTGGCTGGCCCTGGAGAGCCTGGCCGACAACCTGTATACTGT
GCAGAGTGACGTGTGGGCGTTCGGGGTGACCATGTGGGAGATCATGACACGTGGGCAGACGCCATATGCTGGCATCGAAAACGCTGAGATTTACAACTAC
CTCATTGGCGGGAACCGCCTGAAACAGCCTCCGGAGTGTATGGAGGACGTGTATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGA
GCTTTACTTGTCTGCGAATGGAACTGGAGAACATCTTGGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGA
GGAGCCCACTGYGGGAGGCAGCCTGGAGCTACCTGGCRGGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCC
AGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGCTGAGCAGCCAGGRCAGGCAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTT
TGCTGCTGCAGCAAGGGCTACTGCCACACAGTAGCTGTTAGCCCACAGGCAGAGGGCATCGGGGCCATTTGGCCGGCTCTGGTGGCCACTGAGCTGGCTG
ACTAAGCCCCGTCTGACCCCAGCCCAGACAGCAAGGTGTGGAGGCTCCTGTGGTAGTCCTCCCAAGCTGTGCTGGGAAGCCCGGACTGACCAAATCACCC
AATCCCAGTTCTTCCTGCAACCACTCTGTGGCCAGCCTGGCATCAGTTTAGGCCTTGGCTTGATGGAAGTGGGCCAGTCCTGGTTGTCTGAACCCAGGCA
GCTGGCAGGAGTGGGGTGGTTATGTTTCCATGGTTACCATGGGTGTGGATGGCAGTGTGGGGAGGGCAGGTCCAGCTCTGTGGGCCCTACCCTCCTGCTG
AGCTGCCCCTGCTGCTTAAGTGCATGCATTGAGCTGCCTCCAGCCTGGTGGCCCAGCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCA
AGTCASAAAGAGATGTCCTTGTAATATTCCCTTTTAGGTGAGGGTTGGTAAGGGGTTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCAC
CCTGCCTACGCCAGGAGAAGTTGAGGGGAGCATGCTTCCCTGCAGCTGACCGGGTCACACAAAGGCATGCTGGAGTACCCAGCCTATCAGGTGCCCCTCT
TCCAAAGGCAGCGTGCCGAGCCAGCAAGAGGAAGGGGTGCTGTGAGGCTTGCCCAGGAGCAAGTGAGGCCGGAGAGGAGTTCAGGAACCCTTCTCCATAC
CCACAATCTGAGCACGCTACCAAATCTCAAAATATCCTAAGACTAACAAAGGCAGCTGTGTCTGAGCCCAACCCTTCTAAACGGTGACCTTTAGTGCCAA
CTTCCCCTCTAACTGGACAGCCTCTTCTGTCCCAAGTCTCCAGAGAGAAATCAGGCCTGATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGG
GGGAGCCTCTGGAATGCATGGGGCGGGTCCTAGCTGTTAGGGACATTTCCAAGCTGTTRGTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACC
TAAG

Protein Sequence    (SEQ ID NO:1263):
MALRRSMGRPGLPPLPLPPPPRLGLLLAALASLLLPESAAAGLKLMGAPVKLTVSQGQPVKLNCSVEGMEEPDIQWVKDGAVVQNLDQLYIPVSEQHWIG
FLSLKSVERSDAGRYWCQVEDGGETEISQPVWLTVEGVPFFTVEPKDLAVPPNAPFQLSCEAVGPPEPVTIVWWRGTTKIGGPAPSPSVLNVTGVTQSTM
FSCEAHNLKGLASSRTATVHLQALPAAPFNITVTKLSSSNASVAWMPGADGRALLQSCTVQVTQAPGGWEVLAVVVPVPPFTCLLRDLVPATNYSLRVRC
ANALGPSPYADWVPFQTKGLAPASAPQNLHAIRTDSGLILEWEEVIPEAPLEGPLGPYKLSWVQDNGTQDELTVEGTRANLTGWDPQKDLIVRVCVSNAV
GCGPWSQPLVVSSHDRAGQQGPPHSRTSWVPVVLGVLTALVTAAALALILLRKRRKETRFGQAFDSVMARGEPAVHFRAARSFNRERPERIEATLDSLGI
SDELKEKLEDVLIPEQQFTLGRMLGKGEFGSVREAQLKQEDGSFVKVAVKMLKADIIASSDIEEFLREAACMKEFDHPHVAKLVGVSLRSRAKGRLPIPM
VILPFMKHGDLHAFLLASRIGENPFNLPLQTLIRFMVDIACGMEYLSSRNFIHRDLAARNCMLAEDMTVCVADFGLSRKIYSGDYYRQGCASKLPVKWLA
LESLADNLYTVQSDVWAFGVTMWEIMTRGQTPYAGIENAEIYNYLIGGNRLKQPPECMEDVYDLMYQCWSADPKQRPSFTCLRMELENILGQLSVLSASQ
DPLYINIERAEEPTAGGSLELPGRDQPYSGAGDGSGMGAVGGTPSDCRYILTPGGLAEQPGQAEHQPESPLNETQRLLLLQQGLLPHSSC


SNP Information

Context             (SEQ ID NO:9992):
CAGCCACTGTTCACCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCCTGGATGCCAGGTGC
Y
GATGGCCGAGCTCTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTGTGCCCCCCTTTACCT
Celera SNP ID:            hCV2758559
SNP Position Transcript:  1015
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,13|T,27)   total(C,18|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1263, 249, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(T,-|C,-)   JBIC-allele(C,216|T,1269)   total(C,216|T,1269)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1263, 249, (A,GCC)   (A,GCT)      249, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:9993):
GTGCCCTTTCAGACCAAGGGTCTAGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAAGTGA
W
CCCCGAGGCCCCTTTGGAAGGCCCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCAGGGCC
Celera SNP ID:            hCV25473944
SNP Position Transcript:  1305
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,35)   caucasian(A,8|T,26)   total(A,11|T,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1263, 346, (N,AAC)   (I,ATC)   



Context             (SEQ ID NO:9994):
GGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTGCGGGAGGCAGCCTGGAGCTACCTGGC
R
GGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGC
Celera SNP ID:            hCV25615353
SNP Position Transcript:  2738
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,24|G,12)   total(A,55|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1263, 824, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:9995):
GATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGGGGGAGCCTCTGGAATGCATGGGGCGGGTCCTAGCTGTTAGGGACATTTCCAAGCTGTT
R
GTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACCTAAG
Celera SNP ID:            hCV8792672
SNP Position Transcript:  3959
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1263, None   



Context             (SEQ ID NO:9996):
ACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGCTGAGCAGCCAGG
R
CAGGCAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTTTGCTGCTGCAGCAAGGGCTACTGCCACACAGTAGCTGTTAGCCCACAGGCA
Celera SNP ID:            hCV25615355
SNP Position Transcript:  2851
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1263, 861, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:9997):
TGCCACCCAATGCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTACGAAGATCGGGGGACC
Y
GCTCCCTCTCCATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCTGGCCTCTTCTCGCACAG
Celera SNP ID:            hCV25615356
SNP Position Transcript:  817
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1263, 183, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:9998):
CTCATCCCAGAGCAGCAGTTCACCCTGGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTTG
K
GAAAGTGGCTGTGAAGATGCTGAAAGCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATCCA
Celera SNP ID:            hCV2758561
SNP Position Transcript:  1902
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,9)   total(G,1|T,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1263, 545, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:9999):
CTGCGAATGGAACTGGAGAACATCTTGGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTG
Y
GGGAGGCAGCCTGGAGCTACCTGGCAGGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGG
Celera SNP ID:            hCV26633728
SNP Position Transcript:  2712
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1263, 815, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10000):
GCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCTGCCCTGGCCCTCATCCTGCTTCGAAAGAGACGGAAAGAGAC
R
CGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCCGGGCAGCCCGGTCCTTCAATCGAGAAAGGCCCGAGCGCATCG
Celera SNP ID:            hCV25615358
SNP Position Transcript:  1642
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1263, 458, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:10001):
CCCCTGCTGCTTAAGTGCATGCATTGAGCTGCCTCCAGCCTGGTGGCCCAGCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCAAGTCA
S
AAAGAGATGTCCTTGTAATATTCCCTTTTAGGTGAGGGTTGGTAAGGGGTTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCACCCTGCC
Celera SNP ID:            hCV26633729
SNP Position Transcript:  3406
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1263, None   



Gene Number:                 221
Celera Gene:                 hCG37451 - 93000022561656
Celera Transcript:           hCT2281030 - 93000022561680
Public Transcript Accession: NM_006293
Celera Protein:              hCP1804066 - 197000064936707
Public Protein Accession:    NP_006284
Gene Symbol:                 TYRO3
Protein Name:                TYRO3 protein tyrosine kinase;BYK;RSE
Celera Genomic Axis:         GA_x5YUV32W323(8901927..8922273)
Chromosome:                  Chr15
OMIM number:                 600341
OMIM Information:            TYRO3 PROTEIN TYROSINE KINASE;TYRO3


Transcript Sequence (SEQ ID NO:567):
CATGAATCAGCGGCGGCGACGGCGGCGACGGCAGTGGAAGGAGCGCGGTGGCGCGGGAGCGGCCCCGGGGACCCCGCGCTGCTGACGGCGGCGACCGCGG
CCGGAGGCGGGCGCGGGTCTCGGAGGCGGTCGCCTCAGCACCGCCCCACGGGCGGCCCCAGCCCCTCCCGCAGCCCTCCTCCCTCCCGCTCCCTTCCCGC
CGCCTCCTCCCCGCCCTCCTCCCTCCTCGCTCGCGGGCCGGGCCCGGCATGGTGCGGCGTCGCCGCCGATGGCGCTGAGGCGGAGCATGGGGCGGCCGGG
GCTCCCGCCGCTGCCGCTGCCGCCGCCACCGCGGCTCGGGCTGCTGCTGGCGGCTCTGGCTTCTCTGCTGCTCCCGGAGTCCGCCGCCGCAGGTCTGAAG
CTCATGGGAGCCCCGGTGAAGCTGACAGTGTCTCAGGGGCAGCCGGTGAAGCTCAACTGCAGTGTGGAGGGGATGGAGGAGCCTGACATCCAGTGGGTGA
AGGATGGGGCTGTGGTCCAGAACTTGGACCAGTTGTACATCCCAGTCAGCGAGCAGCACTGGATCGGCTTCCTCAGCCTGAAGTCAGTGGAGCGCTCTGA
CGCCGGCCGGTACTGGTGCCAGGTGGAGGATGGGGGTGAAACCGAGATCTCCCAGCCAGTGTGGCTCACGGTAGAAGGTGTGCCATTTTTCACAGTGGAG
CCAAAAGATCTGGCAGTGCCACCCAATGCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTA
CGAAGATCGGGGGACCYGCTCCCTCTCCATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCT
GGCCTCTTCTCGCACAGCCACTGTTCACCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCC
TGGATGCCAGGTGCYGATGGCCGAGCTCTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTG
TGCCCCCCTTTACCTGCCTGCTCCGGGACCTGGTGCCTGCCACCAACTACAGCCTCAGGGTGCGCTGTGCCAATGCCTTGGGGCCCTCTCCCTATGCTGA
CTGGGTGCCCTTTCAGACCAAGGGTCTAGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAA
GTGAWCCCCGAGGCCCCTTTGGAAGGCCCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCA
GGGCCAATTTGACAGGCTGGGATCCCCAAAAGGACCTGATCGTACGTGTGTGCGTCTCCAATGCAGTTGGCTGTGGACCCTGGAGTCAGCCACTGGTGGT
CTCTTCTCATGACCGTGCAGGCCAGCAGGGCCCTCCTCACAGCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCT
GCCCTGGCCCTCATCCTGCTTCGAAAGAGACGGAAAGAGACRCGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCC
GGGCAGCCCGGTCCTTCAATCGAGAAAGGCCCGAGCGCATCGAGGCCACATTGGACAGCTTGGGCATCAGCGATGAACTAAAGGAAAAACTGGAGGATGT
GCTCATCCCAGAGCAGCAGTTCACCCTGGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTT
GKGAAAGTGGCTGTGAAGATGCTGAAAGCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATC
CACACGTGGCCAAACTTGTTGGTGAGCCCATCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCATGGTCATCTTGCCCTTCATGAAGCATGGGGA
CCTGCATGCCTTCCTGCTCGCCTCCCGGATTGGGGAGAACCCCTTTACCCTGATCCGGTTCATGGTGGACATTGCCTGCGGCATGGAGTACCTGAGCTCT
CGGAACTTCATCCACCGAGACCTGGCTGCTCGGAATTGCATGCTGGCAGAGGACATGACAGTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACA
GTGGGGACTACTATCGTCAAGGCTGTGCCTCCAAACTGCCTGTCAAGTGGCTGGCCCTGGAGAGCCTGGCCGACAACCTGTATACTGTGCAGAGTGACGT
GTGGGCGTTCGGGGTGACCATGTGGGAGATCATGACACGTGGGCAGACGCCATATGCTGGCATCGAAAACGCTGAGATTTACAACTACCTCATTGGCGGG
AACCGCCTGAAACAGCCTCCGGAGTGTATGGAGGACGTTCTTACACTCCCACTCCATCCAAGCCAAGGGCTCCCTAGGCCTTCAGACAACCTTTTGTATG
ATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATGGAACTGGAGAACATCTTGGGCCAGCTGTCTGTGCT
ATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTGYGGGAGGCAGCCTGGAGCTACCTGGCRGGGATCAGCCCTACAGT
GGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGCTGAGCAGCCAGGRCAGG
CAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTTTGCTGCTGCAGCAAGGGCTACTGCCACACAGTAGCTGTTAGCCCACAGGCAGAGG
GCATCGGGGCCATTTGGCCGGCTCTGGTGGCCACTGAGCTGGCTGACTAAGCCCCGTCTGACCCCAGCCCAGACAGCAAGGTGTGGAGGCTCCTGTGGTA
GTCCTCCCAAGCTGTGCTGGGAAGCCCGGACTGACCAAATCACCCAATCCCAGTTCTTCCTGCAACCACTCTGTGGCCAGCCTGGCATCAGTTTAGGCCT
TGGCTTGATGGAAGTGGGCCAGTCCTGGTTGTCTGAACCCAGGCAGCTGGCAGGAGTGGGGTGGTTATGTTTCCATGGTTACCATGGGTGTGGATGGCAG
TGTGGGGAGGGCAGGTCCAGCTCTGTGGGCCCTACCCTCCTGCTGAGCTGCCCCTGCTGCTTAAGTGCATGCATTGAGCTGCCTCCAGCCTGGTGGCCCA
GCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCAAGTCASAAAGAGATGTCCTTGTAATATTCCCTTTTAGGTGAGGGTTGGTAAGGGG
TTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCACCCTGCCTACGCCAGGAGAAGTTGAGGGGAGCATGCTTCCCTGCAGCTGACCGGGT
CACACAAAGGCATGCTGGAGTACCCAGCCTATCAGGTGCCCCTCTTCCAAAGGCAGCGTGCCGAGCCAGCAAGAGGAAGGGGTGCTGTGAGGCTTGCCCA
GGAGCAAGTGAGGCCGGAGAGGAGTTCAGGAACCCTTCTCCATACCCACAATCTGAGCACGCTACCAAATCTCAAAATATCCTAAGACTAACAAAGGCAG
CTGTGTCTGAGCCCAACCCTTCTAAACGGTGACCTTTAGTGCCAACTTCCCCTCTAACTGGACAGCCTCTTCTGTCCCAAGTCTCCAGAGAGAAATCAGG
CCTGATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGGGGGAGCCTCTGGAATGCATGGGGCGGGTCCTAGCTGTTAGGGACATTTCCAAGCT
GTTRGTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACCTAAG

Protein Sequence    (SEQ ID NO:1264):
MALRRSMGRPGLPPLPLPPPPRLGLLLAALASLLLPESAAAGLKLMGAPVKLTVSQGQPVKLNCSVEGMEEPDIQWVKDGAVVQNLDQLYIPVSEQHWIG
FLSLKSVERSDAGRYWCQVEDGGETEISQPVWLTVEGVPFFTVEPKDLAVPPNAPFQLSCEAVGPPEPVTIVWWRGTTKIGGPAPSPSVLNVTGVTQSTM
FSCEAHNLKGLASSRTATVHLQALPAAPFNITVTKLSSSNASVAWMPGADGRALLQSCTVQVTQAPGGWEVLAVVVPVPPFTCLLRDLVPATNYSLRVRC
ANALGPSPYADWVPFQTKGLAPASAPQNLHAIRTDSGLILEWEEVIPEAPLEGPLGPYKLSWVQDNGTQDELTVEGTRANLTGWDPQKDLIVRVCVSNAV
GCGPWSQPLVVSSHDRAGQQGPPHSRTSWVPVVLGVLTALVTAAALALILLRKRRKETRFGQAFDSVMARGEPAVHFRAARSFNRERPERIEATLDSLGI
SDELKEKLEDVLIPEQQFTLGRMLGKGEFGSVREAQLKQEDGSFVKVAVKMLKADIIASSDIEEFLREAACMKEFDHPHVAKLVGEPILRSRAKGRLPIP
MVILPFMKHGDLHAFLLASRIGENPFTLIRFMVDIACGMEYLSSRNFIHRDLAARNCMLAEDMTVCVADFGLSRKIYSGDYYRQGCASKLPVKWLALESL
ADNLYTVQSDVWAFGVTMWEIMTRGQTPYAGIENAEIYNYLIGGNRLKQPPECMEDVLTLPLHPSQGLPRPSDNLLYDLMYQCWSADPKQRPSFTCLRME
LENILGQLSVLSASQDPLYINIERAEEPTAGGSLELPGRDQPYSGAGDGSGMGAVGGTPSDCRYILTPGGLAEQPGQAEHQPESPLNETQRLLLLQQGLL
PHSSC


SNP Information

Context             (SEQ ID NO:10002):
CAGCCACTGTTCACCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCCTGGATGCCAGGTGC
Y
GATGGCCGAGCTCTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTGTGCCCCCCTTTACCT
Celera SNP ID:            hCV2758559
SNP Position Transcript:  1015
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,13|T,27)   total(C,18|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1264, 249, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(T,-|C,-)   JBIC-allele(C,216|T,1269)   total(C,216|T,1269)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1264, 249, (A,GCC)   (A,GCT)      249, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:10003):
GTGCCCTTTCAGACCAAGGGTCTAGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAAGTGA
W
CCCCGAGGCCCCTTTGGAAGGCCCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCAGGGCC
Celera SNP ID:            hCV25473944
SNP Position Transcript:  1305
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,35)   caucasian(A,8|T,26)   total(A,11|T,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1264, 346, (N,AAC)   (I,ATC)   



Context             (SEQ ID NO:10004):
GGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTGCGGGAGGCAGCCTGGAGCTACCTGGC
R
GGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGC
Celera SNP ID:            hCV25615353
SNP Position Transcript:  2783
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,24|G,12)   total(A,55|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1264, 839, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:10005):
GATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGGGGGAGCCTCTGGAATGCATGGGGCGGGTCCTAGCTGTTAGGGACATTTCCAAGCTGTT
R
GTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACCTAAG
Celera SNP ID:            hCV8792672
SNP Position Transcript:  4004
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1264, None   



Context             (SEQ ID NO:10006):
ACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGCTGAGCAGCCAGG
R
CAGGCAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTTTGCTGCTGCAGCAAGGGCTACTGCCACACAGTAGCTGTTAGCCCACAGGCA
Celera SNP ID:            hCV25615355
SNP Position Transcript:  2896
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1264, 876, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:10007):
TGCCACCCAATGCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTACGAAGATCGGGGGACC
Y
GCTCCCTCTCCATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCTGGCCTCTTCTCGCACAG
Celera SNP ID:            hCV25615356
SNP Position Transcript:  817
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1264, 183, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:10008):
CTCATCCCAGAGCAGCAGTTCACCCTGGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTTG
K
GAAAGTGGCTGTGAAGATGCTGAAAGCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATCCA
Celera SNP ID:            hCV2758561
SNP Position Transcript:  1902
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,9)   total(G,1|T,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1264, 545, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10009):
CTGCGAATGGAACTGGAGAACATCTTGGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTG
Y
GGGAGGCAGCCTGGAGCTACCTGGCAGGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGG
Celera SNP ID:            hCV26633728
SNP Position Transcript:  2757
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1264, 830, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10010):
GCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCTGCCCTGGCCCTCATCCTGCTTCGAAAGAGACGGAAAGAGAC
R
CGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCCGGGCAGCCCGGTCCTTCAATCGAGAAAGGCCCGAGCGCATCG
Celera SNP ID:            hCV25615358
SNP Position Transcript:  1642
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1264, 458, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:10011):
CCCCTGCTGCTTAAGTGCATGCATTGAGCTGCCTCCAGCCTGGTGGCCCAGCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCAAGTCA
S
AAAGAGATGTCCTTGTAATATTCCCTTTTAGGTGAGGGTTGGTAAGGGGTTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCACCCTGCC
Celera SNP ID:            hCV26633729
SNP Position Transcript:  3451
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1264, None   



Gene Number:                 221
Celera Gene:                 hCG37451 - 93000022561656
Celera Transcript:           hCT28684 - 93000022561657
Public Transcript Accession: NM_006293
Celera Protein:              hCP47541 - 197000064936706
Public Protein Accession:    NP_006284
Gene Symbol:                 TYRO3
Protein Name:                TYRO3 protein tyrosine kinase;BYK;RSE
Celera Genomic Axis:         GA_x5YUV32W323(8901927..8922273)
Chromosome:                  Chr15
OMIM number:                 600341
OMIM Information:            TYRO3 PROTEIN TYROSINE KINASE;TYRO3


Transcript Sequence (SEQ ID NO:568):
CATGAATCAGCGGCGGCGACGGCGGCGACGGCAGTGGAAGGAGCGCGGTGGCGCGGGAGCGGCCCCGGGGACCCCGCGCTGCTGACGGCGGCGACCGCGG
CCGGAGGCGGGCGCGGGTCTCGGAGGCGGTCGCCTCAGCACCGCCCCACGGGCGGCCCCAGCCCCTCCCGCAGCCCTCCTCCCTCCCGCTCCCTTCCCGC
CGCCTCCTCCCCGCCCTCCTCCCTCCTCGCTCGCGGGCCGGGCCCGGCATGGTGCGGCGTCGCCGCCGATGGCGCTGAGGCGGAGCATGGGGCGGCCGGG
GCTCCCGCCGCTGCCGCTGCCGCCGCCACCGCGGCTCGGGCTGCTGCTGGCGGCTCTGCCCTCAGGTCTGAAGCTCATGGGAGCCCCGGTGAAGCTGACA
GTGTCTCAGGGGCAGCCGGTGAAGCTCAACTGCAGTGTGGAGGGGATGGAGGAGCCTGACATCCAGTGGGTGAAGGATGGGGCTGTGGTCCAGAACTTGG
ACCAGTTGTACATCCCAGTCAGCGAGCAGCACTGGATCGGCTTCCTCAGCCTGAAGTCAGTGGAGCGCTCTGACGCCGGCCGGTACTGGTGCCAGGTGGA
GGATGGGGGTGAAACCGAGATCTCCCAGCCAGTGTGGCTCACGGTAGAAGGTGTGCCATTTTTCACAGTGGAGCCAAAAGATCTGGCAGTGCCACCCAAT
GCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTACGAAGATCGGGGGACCYGCTCCCTCTC
CATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCTGGCCTCTTCTCGCACAGCCACTGTTCA
CCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCCTGGATGCCAGGTGCYGATGGCCGAGCT
CTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTGTGCCCCCCTTTACCTGCCTGCTCCGGG
ACCTGGTGCCTGCCACCAACTACAGCCTCAGGGTGCGCTGTGCCAATGCCTTGGGGCCCTCTCCCTATGCTGACTGGGTGCCCTTTCAGACCAAGGGTCT
AGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAAGTGAWCCCCGAGGCCCCTTTGGAAGGC
CCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCAGGGCCAATTTGACAGGCTGGGATCCCC
AAAAGGACCTGATCGTACGTGTGTGCGTCTCCAATGCAGTTGGCTGTGGACCCTGGAGTCAGCCACTGGTGGTCTCTTCTCATGACCGTGCAGGCCAGCA
GGGCCCTCCTCACAGCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCTGCCCTGGCCCTCATCCTGCTTCGAAAG
AGACGGAAAGAGACRCGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCCGGGCAGCCCGGTCCTTCAATCGAGAAA
GGCCCGAGCGCATCGAGGCCACATTGGACAGCTTGGGCATCAGCGATGAACTAAAGGAAAAACTGGAGGATGTGCTCATCCCAGAGCAGCAGTTCACCCT
GGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTTGKGAAAGTGGCTGTGAAGATGCTGAAA
GCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATCCACACGTGGCCAAACTTGTTGGGGTAA
GCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCATGGTCATCTTGCCCTTCATGAAGCATGGGGACCTGCATGCCTTCCTGCTCGCCTCCCGGAT
TGGGGAGAACCCCTTTAACCTACCCCTCCAGACCCTGATCCGGTTCATGGTGGACATTGCCTGCGGCATGGAGTACCTGAGCTCTCGGAACTTCATCCAC
CGAGACCTGGCTGCTCGGAATTGCATGCTGGCAGAGGACATGACAGTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACAGTGGGGACTACTATC
GTCAAGGCTGTGCCTCCAAACTGCCTGTCAAGTGGCTGGCCCTGGAGAGCCTGGCCGACAACCTGTATACTGTGCAGAGTGACGTGTGGGCGTTCGGGGT
GACCATGTGGGAGATCATGACACGTGGGCAGACGCCATATGCTGGCATCGAAAACGCTGAGATTTACAACTACCTCATTGGCGGGAACCGCCTGAAACAG
CCTCCGGAGTGTATGGAGGACGTGTATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATGGAACTGG
AGAACATCTTGGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTGYGGGAGGCAGCCTGGA
GCTACCTGGCRGGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCC
GGAGGGCTGGCTGAGCAGCCAGGRCAGGCAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTTTGCTGCTGCAGCAAGGGCTACTGCCAC
ACAGTAGCTGTTAGCCCACAGGCAGAGGGCATCGGGGCCATTTGGCCGGCTCTGGTGGCCACTGAGCTGGCTGACTAAGCCCCGTCTGACCCCAGCCCAG
ACAGCAAGGTGTGGAGGCTCCTGTGGTAGTCCTCCCAAGCTGTGCTGGGAAGCCCGGACTGACCAAATCACCCAATCCCAGTTCTTCCTGCAACCACTCT
GTGGCCAGCCTGGCATCAGTTTAGGCCTTGGCTTGATGGAAGTGGGCCAGTCCTGGTTGTCTGAACCCAGGCAGCTGGCAGGAGTGGGGTGGTTATGTTT
CCATGGTTACCATGGGTGTGGATGGCAGTGTGGGGAGGGCAGGTCCAGCTCTGTGGGCCCTACCCTCCTGCTGAGCTGCCCCTGCTGCTTAAGTGCATGC
ATTGAGCTGCCTCCAGCCTGGTGGCCCAGCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCAAGTCASAAAGAGATGTCCTTGTAATAT
TCCCTTTTAGGTGAGGGTTGGTAAGGGGTTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCACCCTGCCTACGCCAGGAGAAGTTGAGGG
GAGCATGCTTCCCTGCAGCTGACCGGGTCACACAAAGGCATGCTGGAGTACCCAGCCTATCAGGTGCCCCTCTTCCAAAGGCAGCGTGCCGAGCCAGCAA
GAGGAAGGGGTGCTGTGAGGCTTGCCCAGGAGCAAGTGAGGCCGGAGAGGAGTTCAGGAACCCTTCTCCATACCCACAATCTGAGCACGCTACCAAATCT
CAAAATATCCTAAGACTAACAAAGGCAGCTGTGTCTGAGCCCAACCCTTCTAAACGGTGACCTTTAGTGCCAACTTCCCCTCTAACTGGACAGCCTCTTC
TGTCCCAAGTCTCCAGAGAGAAATCAGGCCTGATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGGGGGAGCCTCTGGAATGCATGGGGCGGG
TCCTAGCTGTTAGGGACATTTCCAAGCTGTTRGTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACCTAAG

Protein Sequence    (SEQ ID NO:1265):
MALRRSMGRPGLPPLPLPPPPRLGLLLAALPSGLKLMGAPVKLTVSQGQPVKLNCSVEGMEEPDIQWVKDGAVVQNLDQLYIPVSEQHWIGFLSLKSVER
SDAGRYWCQVEDGGETEISQPVWLTVEGVPFFTVEPKDLAVPPNAPFQLSCEAVGPPEPVTIVWWRGTTKIGGPAPSPSVLNVTGVTQSTMFSCEAHNLK
GLASSRTATVHLQALPAAPFNITVTKLSSSNASVAWMPGADGRALLQSCTVQVTQAPGGWEVLAVVVPVPPFTCLLRDLVPATNYSLRVRCANALGPSPY
ADWVPFQTKGLAPASAPQNLHAIRTDSGLILEWEEVIPEAPLEGPLGPYKLSWVQDNGTQDELTVEGTRANLTGWDPQKDLIVRVCVSNAVGCGPWSQPL
VVSSHDRAGQQGPPHSRTSWVPVVLGVLTALVTAAALALILLRKRRKETRFGQAFDSVMARGEPAVHFRAARSFNRERPERIEATLDSLGISDELKEKLE
DVLIPEQQFTLGRMLGKGEFGSVREAQLKQEDGSFVKVAVKMLKADIIASSDIEEFLREAACMKEFDHPHVAKLVGVSLRSRAKGRLPIPMVILPFMKHG
DLHAFLLASRIGENPFNLPLQTLIRFMVDIACGMEYLSSRNFIHRDLAARNCMLAEDMTVCVADFGLSRKIYSGDYYRQGCASKLPVKWLALESLADNLY
TVQSDVWAFGVTMWEIMTRGQTPYAGIENAEIYNYLIGGNRLKQPPECMEDVYDLMYQCWSADPKQRPSFTCLRMELENILGQLSVLSASQDPLYINIER
AEEPTAGGSLELPGRDQPYSGAGDGSGMGAVGGTPSDCRYILTPGGLAEQPGQAEHQPESPLNETQRLLLLQQGLLPHSSC


SNP Information

Context             (SEQ ID NO:10012):
CAGCCACTGTTCACCTTCAAGCACTGCCTGCAGCCCCCTTCAACATCACCGTGACAAAGCTTTCCAGCAGCAACGCTAGTGTGGCCTGGATGCCAGGTGC
Y
GATGGCCGAGCTCTGCTACAGTCCTGTACAGTTCAGGTGACACAGGCCCCAGGAGGCTGGGAAGTCCTGGCTGTTGTGGTCCCTGTGCCCCCCTTTACCT
Celera SNP ID:            hCV2758559
SNP Position Transcript:  988
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,33)   caucasian(C,13|T,27)   total(C,18|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1265, 240, (A,GCC)   (A,GCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|T,6)      total(C,1|T,6) ;no_pop(T,-|C,-)   JBIC-allele(C,216|T,1269)   total(C,216|T,1269)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1265, 240, (A,GCC)   (A,GCT)      240, (A,GCT)   (A,GCC)      



Context             (SEQ ID NO:10013):
GTGCCCTTTCAGACCAAGGGTCTAGCCCCAGCCAGCGCTCCCCAAAACCTCCATGCCATCCGCACAGATTCAGGCCTCATCTTGGAGTGGGAAGAAGTGA
W
CCCCGAGGCCCCTTTGGAAGGCCCCCTGGGACCCTACAAACTGTCCTGGGTTCAAGACAATGGAACCCAGGATGAGCTGACAGTGGAGGGGACCAGGGCC
Celera SNP ID:            hCV25473944
SNP Position Transcript:  1278
SNP Source:               Applera
Population(Allele,Count): african american(A,3|T,35)   caucasian(A,8|T,26)   total(A,11|T,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1265, 337, (N,AAC)   (I,ATC)   



Context             (SEQ ID NO:10014):
GGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTGCGGGAGGCAGCCTGGAGCTACCTGGC
R
GGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGC
Celera SNP ID:            hCV25615353
SNP Position Transcript:  2711
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,7)   caucasian(A,24|G,12)   total(A,55|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1265, 815, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:10015):
GATGAGGGGGAATTCCTGGAACCTGGACCCCAGCCTTGGTGGGGGAGCCTCTGGAATGCATGGGGCGGGTCCTAGCTGTTAGGGACATTTCCAAGCTGTT
R
GTTGCTGTTTAAAATAGAAATAAAATTGAAGACTAAAGACCTAAG
Celera SNP ID:            hCV8792672
SNP Position Transcript:  3932
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1265, None   



Context             (SEQ ID NO:10016):
ACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGGTACATACTCACCCCCGGAGGGCTGGCTGAGCAGCCAGG
R
CAGGCAGAGCACCAGCCAGAGAGTCCCCTCAATGAGACACAGAGGCTTTTGCTGCTGCAGCAAGGGCTACTGCCACACAGTAGCTGTTAGCCCACAGGCA
Celera SNP ID:            hCV25615355
SNP Position Transcript:  2824
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1265, 852, (G,GGA)   (G,GGG)   



Context             (SEQ ID NO:10017):
TGCCACCCAATGCCCCTTTCCAACTGTCTTGTGAGGCTGTGGGTCCCCCTGAACCTGTTACCATTGTCTGGTGGAGAGGAACTACGAAGATCGGGGGACC
Y
GCTCCCTCTCCATCTGTTTTAAATGTAACAGGGGTGACCCAGAGCACCATGTTTTCCTGTGAAGCTCACAACCTAAAAGGCCTGGCCTCTTCTCGCACAG
Celera SNP ID:            hCV25615356
SNP Position Transcript:  790
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1265, 174, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:10018):
CTCATCCCAGAGCAGCAGTTCACCCTGGGCCGGATGTTGGGCAAAGGAGAGTTTGGTTCAGTGCGGGAGGCCCAGCTGAAGCAAGAGGATGGCTCCTTTG
K
GAAAGTGGCTGTGAAGATGCTGAAAGCTGACATCATTGCCTCAAGCGACATTGAAGAGTTCCTCAGGGAAGCAGCTTGCATGAAGGAGTTTGACCATCCA
Celera SNP ID:            hCV2758561
SNP Position Transcript:  1875
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|T,9)   total(G,1|T,9) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1265, 536, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10019):
CTGCGAATGGAACTGGAGAACATCTTGGGCCAGCTGTCTGTGCTATCTGCCAGCCAGGACCCCTTATACATCAACATCGAGAGAGCTGAGGAGCCCACTG
Y
GGGAGGCAGCCTGGAGCTACCTGGCAGGGATCAGCCCTACAGTGGGGCTGGGGATGGCAGTGGCATGGGGGCAGTGGGTGGCACTCCCAGTGACTGTCGG
Celera SNP ID:            hCV26633728
SNP Position Transcript:  2685
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1265, 806, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10020):
GCCGCACATCCTGGGTACCTGTGGTCCTTGGTGTGCTAACGGCCCTGGTGACGGCTGCTGCCCTGGCCCTCATCCTGCTTCGAAAGAGACGGAAAGAGAC
R
CGGTTTGGGCAAGCCTTTGACAGTGTCATGGCCCGGGGAGAGCCAGCCGTTCACTTCCGGGCAGCCCGGTCCTTCAATCGAGAAAGGCCCGAGCGCATCG
Celera SNP ID:            hCV25615358
SNP Position Transcript:  1615
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,37)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1265, 449, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:10021):
CCCCTGCTGCTTAAGTGCATGCATTGAGCTGCCTCCAGCCTGGTGGCCCAGCTATTACCACACTTGGGGTTTAAATATCCAGGTGTGCCCCTCCAAGTCA
S
AAAGAGATGTCCTTGTAATATTCCCTTTTAGGTGAGGGTTGGTAAGGGGTTGGTATCTCAGGTCTGAATCTTCACCATCTTTCTGATTCCGCACCCTGCC
Celera SNP ID:            hCV26633729
SNP Position Transcript:  3379
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1265, None   



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT28819 - 206000043283040
Public Transcript Accession: NM_002885
Celera Protein:              hCP48744 - 206000043282950
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4777828)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:569):
GAGGGGGCGGGAGGAGGGCGTCCCTCCAACAGAGGGTCTGCGGCCTGGACGGGGGGCGGCGGCCGGGAAGGGGGTGGGGGAGGGGCTGCCCCGGGCCCCG
GGCCCCGCAATCCCCGCCCGGCTGGGCCCGGCTCGGAAAGTCCCGCGAAGCCCCCGCCCGGCCGGCCCAGGGCGGCGCGAACAAGCGGCCCTTTCTGCGC
CGGCGGCCCCCGGCAGCTGGACCGCGGCCCGCTGGGGCGCGGACGTATCCGAGCTGGGGCGGGGGCGGGGGCGGGGCGGCCGCGTTGCCAAGGTGACCCG
GGCGCGGGAAGGCGGCTCCGGCTCGCGCGGGCCGGGCCGGGCGGCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCG
GGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAGYGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGT
TCCCTCCTATACTCCTTCACTCTACCMTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTC
CCRCCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGT
TTGGGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAA
CCCYACAGCCCGCATCTAYCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACRCTGCYCTCGGCCACCTTGTCTTCTCACTCAAG
TACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCATCCCCATCTCCTGCCTCACCGAGTTCC
CTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTCRCCTT
TGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGAAAGT
CCCGCTTTCGTGGAGTTCCTTGAATTTCTTGGCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCCGAGGAGGCCTGGACGTGACCCACGGGCAGACGG
GGACCGAATCTGTGTACTGCAACTTCCGCAACAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCCATACACGGAAGGGGACGCCCAGCAGTTGCAGCG
GAAGCGGCACATCGGGAACGACATCGTGGCTGTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCCGACATGATCGCGTCCAACTTCCTGCATGCCTAC
GTCGTGGTGCAGGCTGAGGGCGGGGGCCCTGATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAGATGATGTGCCCTTCTTTGGACCCCCCCTCCCGG
ACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAARTTTGCCAA
ACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACGAGGACAAG
ATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGMTGAGCAACAAGA
AGCCCAACACYGTGTCCACCAGCCACAGCGGGAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAG
CCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCG
GCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAGAGATGCCCACGACCAAGAACA
GAGCGGAGACCGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCCGCTCCTCGTCCAGTGCCAGCAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGG
TGTGGACGGAGAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAACACCCCACAAGCGGGACTCCTTCATCTATAGCACGTGGCTGGAGGACAGTGTC
AGCACCACTAGTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCACCCAGACGCCGGCAAGTTGGGGGACCCTGCGTGTCCCGAGATCAAGATCCAGC
TGGAAGCATCTGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCCACCCCCTCTGAAGGTGAAACTGAGCAGATGAGGCCACAGAAGCACAAGGGGA
AGGTGCCGTGTCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCAACACCAGCCCGTGGGCTGCCCCCTGCCTCCCCACCCTCCCCATGGCCCACCC
ATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGG
GATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGAACAAGGTGGGA
GAGAGAGTTTGAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCAGCACAAGGAGGATGTGATATGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGG
TCCTGGTTTCCAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACTCTCCCTCTCTGGGCATGTCTGCTACAAATGGACAAGATTATTTCAGAGGTCA
CTGAAGACTGTGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTTCCCAGGGACCTCCTATCACCCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCA
GGTGGGCTGAGGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGACCCTCCAGTTCTGCCACAGGTCTGCCGATGCCCTGTCCACTGCCTACACATG
ACAGACAAGTAACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTCAGCCAGCACCCAGCTTAACCCCTGCCATCCCATGCTGGGCCCTCCAGGCCAA
GAGTCTCAGCTGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACAC
TTTTTAGGCGTCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAAT
TCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1266):
MSGRKRSFTFGAYGGVDKSFTSRRSVWRSDGQNQHFPQALDLSRVNLVPSYTPSLYPKNTDLFEMIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEV
LGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHFNYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCR
TYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQKLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDF
KGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDENTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSV
TARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEELHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIR
SRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSAIGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSEN
SSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGTPHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDA
GKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10022):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1957
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 534, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10023):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3521
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1266, None   



Context             (SEQ ID NO:10024):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  1096
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 247, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10025):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  603
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 82, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10026):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  2079
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 574, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10027):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1911
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 518, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10028):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  873
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 172, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10029):
GCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  444
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 29, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:10030):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1692
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 445, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10031):
CGGAGTGTGTGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  527
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 57, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:10032):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  868
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 171, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 171, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10033):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2789
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1266, None   



Context             (SEQ ID NO:10034):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1888
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1266, 511, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10035):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  804
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 149, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10036):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  819
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 154, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 154, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10037):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1935
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1266, 526, (S,AGC)   (S,AGT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT2254405 - 206000043283016
Public Transcript Accession: NM_002885
Celera Protein:              hCP1855143 - 206000043282941
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4794962)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:570):
AGCAGAGCTGCAGCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGGTGGACAAGTCCTTCACTTCTCGCCGGAG
TGTGTGGAGGAGYGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCMTAAG
AACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCRCCGCCCCTCAAAACAGAGGAGGACTACA
TTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTACTGGATTGAGGGCACCAACCA
CGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCYACAGCCCGCATCTAYCGGAAGCACTTT
CTCGGCAAGGAGCATTTCAATTACTACTCACTGGACRCTGCYCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGC
GGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCATCCCCATCTCCTGCCTCACCGAGTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTG
TGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTCRCCTTTGACGAGCATGTCATCAGCAATAACTTCAAG
TTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGAAAGTCCCGCTTTCGTGGAGTTCCTTGAATTTCTTG
GCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCCGAGGAGGCCTGGACGTGACCCACGGGCAGACGGGGACCGAATCTGTGTACTGCAACTTCCGCAA
CAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCCATACACGGAAGGGGACGCCCAGCAGTTGCAGCGGAAGCGGCACATCGGGAACGACATCGTGGCT
GTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCCGACATGATCGCGTCCAACTTCCTGCATGCCTACGTCGTGGTGCAGGCTGAGGGCGGGGGCCCTG
ATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAGATGATGTGCCCTTCTTTGGACCCCCCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTT
CCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAARTTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTG
GAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCT
TTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGMTGAGCAACAAGAAGCCCAACACYGTGTCCACCAGCCACAGCGG
GAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGCGGCTGGAATATCATTGCTTATTCCTGGGAAAAGTGCGAGTAGATTCGGACGCCGGGGCAGTGCC
ATAGGCATAGGAACCGTGGAAGAGTCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTG
GCATCGAGAACATACAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGA
GAACTCATCCACTCAGAGCTCCCCAGAGATGCCCACGACCAAGAACAGAGCGGAGACCGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCCGCTCC
TCGTCCAGTGCCAGCAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGGTGTGGACGGAGAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAACACCCC
ACAAGCGGGACTCCTTCATCTATAGCACGTGGCTGGAGGACAGTGTCAGCACCACTAGTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCACCCAGA
CGCCGGCAAGTTGGGGGACCCTGCGTGTCCCGAGATCAAGATCCAGCTGGAAGCATCTGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCCACCCC
CTCTGAAGGTGAAACTGAGCAGATGAGGCCACAGAAGCACAAGGGGAAGGTGCCGTGTCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCAACACC
AGCCCGTGGGCTGCCCCCTGCCTCCCCACCCTCCCCATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCT
GCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCT
CCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGAACAAGGTGGGAGAGAGAGTTTGAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCAGCACA
AGGAGGATGTGATATGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTCCAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACTCTCCC
TCTCTGGGCATGTCTGCTACAAATGGACAAGATTATTTCAGAGGTCACTGAAGACTGTGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTTCCCAG
GGACCTCCTATCACCCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGAGGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGACCCTC
CAGTTCTGCCACAGGTCTGCCGATGCCCTGTCCACTGCCTACACATGACAGACAAGTAACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTCAGCCA
GCACCCAGCTTAACCCCTGCCATCCCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGCTGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCATGGAGG
GGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATTTTGGA
AGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1267):
MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHF
NYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQ
KLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEE
LHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLLIPGKSASRFGRRGSAIGIGTV
EESLIVPGKSPTRKKSGPFGSRRSSAIGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASS
FASVVEETEGVDGEDTGLESVSSSGTPHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10038):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCATTGCTTATTCCTGGGAAAAGTGCGAGTAGATTCGGACGCCGGGGCAGTGCCATAGGCATAGGAACCGTGGAAGAGTC
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1626
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 470, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10039):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3268
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1267, None   



Context             (SEQ ID NO:10040):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  765
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 183, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10041):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  272
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 18, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10042):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1826
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 536, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10043):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCATTGCTTATTCCTGGGAAAAGTGCGAGTAGAT
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1580
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 454, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10044):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  542
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 108, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10045):
GCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  113
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1267, None



Context             (SEQ ID NO:10046):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1361
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 381, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10047):
CGGAGTGTGTGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  196
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1267, None   



Context             (SEQ ID NO:10048):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 107, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 107, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10049):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2536
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1267, None   



Context             (SEQ ID NO:10050):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCATTGCTTAT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1557
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1267, 447, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10051):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  473
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 85, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10052):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  488
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 90, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 90, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10053):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCATTGCTTATTCCTGGGAAAAGTGCGAGTAGATTCGGACGCCGGGGCAGTGCCATAG
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1604
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1267, 462, (S,AGC)   (S,AGT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT2254408 - 206000043282902
Public Transcript Accession: NM_002885
Celera Protein:              hCP1855145 - 206000043282944
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4778960)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:571):
CTGCAAGGGGCTCTTGAGGGCTCCTGCACCCACCAGAATGTGCAGAGAAGAGGTCCCAGGTGGGAGCCGAGAGGGGGCTGAGGGCAGATCCCCAAGAGAG
AAGTAATTGGTGTGAGAGAGGATCTCAATTTCTTCGTGTCTAAAATGGGGAAACTGCAGCGCCACTTACCCTGCCTAGGGTGGACAAGTCCTTCACTTCT
CGCCGGAGTGTGTGGAGGAGYGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCT
ACCMTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCRCCGCCCCTCAAAACAGAGGA
GGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTACTGGATTGAGGGC
ACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCYACAGCCCGCATCTAYCGGA
AGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACRCTGCYCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGA
GCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCATCCCCATCTCCTGCCTCACCGAGTTCCCTAATGTTGTCCAGATGGCAAAG
TTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTCRCCTTTGACGAGCATGTCATCAGCAATA
ACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGAAAGTCCCGCTTTCGTGGAGTTCCTTGA
ATTTCTTGGCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCCGAGGAGGCCTGGACGTGACCCACGGGCAGACGGGGACCGAATCTGTGTACTGCAAC
TTCCGCAACAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCCATACACGGAAGGGGACGCCCAGCAGTTGCAGCGGAAGCGGCACATCGGGAACGACA
TCGTGGCTGTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCCGACATGATCGCGTCCAACTTCCTGCATGCCTACGTCGTGGTGCAGGCTGAGGGCGG
GGGCCCTGATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAGATGATGTGCCCTTCTTTGGACCCCCCCTCCCGGACCCCGCTGTGTTCAGGAAGGGG
CCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAARTTTGCCAAACTGGAGGAGCGGACGCGGGCCG
CCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGG
CGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGMTGAGCAACAAGAAGCCCAACACYGTGTCCACCAGC
CACAGCGGGAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCC
CGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAG
CGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAGAGATGCCCACGACCAAGAACAGAGCGGAGACCGCAGCGCAGAGA
GCAGAGGCGCTCAAGGACTTCTCCCGCTCCTCGTCCAGTGCCAGCAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGGTGTGGACGGAGAGGACACAGGCC
TGGAGAGCGTGTCATCCTCAGGAACACCCCACAAGCGGGACTCCTTCATCTATAGCACGTGGCTGGAGGACAGTGTCAGCACCACTAGTGGGGGCAGCTC
CCCAGGCCCCTCTCGATCACCCCACCCAGACGCCGGCAAGTTGGGGGACCCTGCGTGTCCCGAGATCAAGATCCAGCTGGAAGCATCTGAGCAGCACATG
CCCCAGCTGGGCTGTTAGCCGGGCCACCCCCTCTGAAGGTGAAACTGAGCAGATGAGGCCACAGAAGCACAAGGGGAAGGTGCCGTGTCAAGCCCAGGCA
GACGAGACCTCTGCCCTGAAGACCAACACCAGCCCGTGGGCTGCCCCCTGCCTCCCCACCCTCCCCATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCA
GAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACT
GGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGAACAAGGTGGGAGAGAGAGTTTGAGACAGCTCCGT
GTGGAGAGCTTAGCCCCTGGAGGCAGCACAAGGAGGATGTGATATGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTCCAATTTGGGTTCT
GCTGTGTGACTCTGGGCAAGTCACTCTCCCTCTCTGGGCATGTCTGCTACAAATGGACAAGATTATTTCAGAGGTCACTGAAGACTGTGATTACATGCAC
CTGCCTTAGAAGGTAGGATTTTCTTCCCAGGGACCTCCTATCACCCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGAGGGGCAGGGAGCC
GGCTGTGCCCAGTATGCCTCCTGGACCCTCCAGTTCTGCCACAGGTCTGCCGATGCCCTGTCCACTGCCTACACATGACAGACAAGTAACCCCCTCATGG
GGGATGGGGACCTACCTGGCTCCTCAGCCAGCACCCAGCTTAACCCCTGCCATCCCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGCTGGCCGAGAGTCC
AGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAARGC
CAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1268):
MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHF
NYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQ
KLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEE
LHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSA
IGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10054):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1734
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 470, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10055):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3298
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1268, None   



Context             (SEQ ID NO:10056):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  873
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 183, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10057):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  380
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 18, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10058):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1856
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 510, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10059):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1688
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 454, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10060):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  650
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 108, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10061):
GATCTCAATTTCTTCGTGTCTAAAATGGGGAAACTGCAGCGCCACTTACCCTGCCTAGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  221
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1268, None



Context             (SEQ ID NO:10062):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1469
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 381, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10063):
CGGAGTGTGTGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  304
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1268, None   



Context             (SEQ ID NO:10064):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  645
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 107, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 107, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10065):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2566
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1268, None   



Context             (SEQ ID NO:10066):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1665
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1268, 447, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10067):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  581
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 85, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10068):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  596
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 90, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 90, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10069):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1712
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1268, 462, (S,AGC)   (S,AGT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT2254409 - 206000043282879
Public Transcript Accession: NM_002885
Celera Protein:              hCP1855140 - 206000043282945
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4794962)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:572):
AGCAGAGCTGCAGCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGAGGAGYGATGGGCAGAACCAGCACTTCCC
TCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCMTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAG
GGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCRCCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAG
AAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCA
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCYACAGCCCGCATCTAYCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
RCTGCYCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATG
ATGTCATCCCCATCTCCTGCCTCACCGAGTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCT
CTACCCCAAGGCTTCCCGGCTCATCGTCRCCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCC
GAGGAAGAACTCTTCAGCACCAATGAGGAAAGTCCCGCTTTCGTGGAGTTCCTTGAATTTCTTGGCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCC
GAGGAGGCCTGGACGTGACCCACGGGCAGACGGGGACCGAATCTGTGTACTGCAACTTCCGCAACAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCC
ATACACGGAAGGGGACGCCCAGCAGTTGCAGCGGAAGCGGCACATCGGGAACGACATCGTGGCTGTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCC
GACATGATCGCGTCCAACTTCCTGCATGCCTACGTCGTGGTGCAGGCTGAGGGCGGGGGCCCTGATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAG
ATGATGTGCCCTTCTTTGGACCCCCCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGA
ATATGCCTGCTACAAGGCAGAGAARTTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAG
TCCATGATGGGCTTGGGCGGCGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCC
AGTCCATGGATGCCATGGGGMTGAGCAACAAGAAGCCCAACACYGTGTCCACCAGCCACAGCGGGAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGC
GGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATA
CAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTC
AGAGCTCCCCAGAGATGCCCACGACCAAGAACAGAGCGGAGACCGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCCGCTCCTCGTCCAGTGCCAG
CAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGGTGTGGACGGAGAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAACACCCCACAAGCGGGACTCC
TTCATCTATAGCACGTGGCTGGAGGACAGTGTCAGCACCACTAGTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCACCCAGACGCCGGCAAGTTGG
GGGACCCTGCGTGTCCCGAGATCAAGATCCAGCTGGAAGCATCTGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCCACCCCCTCTGAAGGTGAAA
CTGAGCAGATGAGGCCACAGAAGCACAAGGGGAAGGTGCCGTGTCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCAACACCAGCCCGTGGGCTGC
CCCCTGCCTCCCCACCCTCCCCATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCC
CACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAG
CATCCCTCTGGACTCAGAGGGAACAAGGTGGGAGAGAGAGTTTGAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCAGCACAAGGAGGATGTGATA
TGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTCCAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACTCTCCCTCTCTGGGCATGTC
TGCTACAAATGGACAAGATTATTTCAGAGGTCACTGAAGACTGTGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTTCCCAGGGACCTCCTATCAC
CCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGAGGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGACCCTCCAGTTCTGCCACAG
GTCTGCCGATGCCCTGTCCACTGCCTACACATGACAGACAAGTAACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTCAGCCAGCACCCAGCTTAAC
CCCTGCCATCCCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGCTGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCAC
AGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCG
TGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1269):
MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHF
NYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQ
KLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEE
LHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSA
IGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10070):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1590
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 470, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10071):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3154
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1269, None   



Context             (SEQ ID NO:10072):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  729
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 183, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10073):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  236
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 18, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10074):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1712
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 510, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10075):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1544
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 454, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10076):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  506
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 108, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10077):
AGCAGAGCTGCAGCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  77
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1269, None



Context             (SEQ ID NO:10078):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1325
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 381, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10079):
CAGGCCCTTGGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  160
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1269, None   



Context             (SEQ ID NO:10080):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  501
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 107, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 107, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10081):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2422
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1269, None   



Context             (SEQ ID NO:10082):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1521
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1269, 447, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10083):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  437
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 85, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10084):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  452
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 90, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 90, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10085):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1568
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1269, 462, (S,AGC)   (S,AGT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT2254410 - 206000043282969
Public Transcript Accession: NM_002885
Celera Protein:              hCP1855146 - 206000043282939
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4748172)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:573):
CGCGGAGCTCAGCGCTGCGGGGCCCGGACCCGGGCGCGCGCGGGCCAGGAGCCGGCTGGGCCAGCTGAAGTGCCGCCCSGGCGGGGGCCGGGCCGGGCCG
CGCTCAGGATGGCACAGCTGCGGCCCGCGGTGCCACCCGGCCGTCCGCGGAGGGGCTCGCTGCCCGCGGGGGCCAGCTGGCAGAACACAGATCTATTTGA
GATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCRCCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTG
CACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCC
CCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCYACAGCCCGCATCTAYCGGAAGCACTTTCTCGGCAAGGAGCATTT
CAATTACTACTCACTGGACRCTGCYCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACC
AAGTGCCGGACATACCATGATGTCATCCCCATCTCCTGCCTCACCGAGTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGG
ATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTCRCCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCA
GAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGAAAGTCCCGCTTTCGTGGAGTTCCTTGAATTTCTTGGCCAGAAGGTCAAACTG
CAGGACTTTAAGGGGTTCCGAGGAGGCCTGGACGTGACCCACGGGCAGACGGGGACCGAATCTGTGTACTGCAACTTCCGCAACAAGGAGATCATGTTTC
ACGTGTCCACCAAGCTGCCATACACGGAAGGGGACGCCCAGCAGTTGCAGCGGAAGCGGCACATCGGGAACGACATCGTGGCTGTGGTCTTCCAGGATGA
GAACACTCCTTTCGTGCCCGACATGATCGCGTCCAACTTCCTGCATGCCTACGTCGTGGTGCAGGCTGAGGGCGGGGGCCCTGATGGCCCCCTCTACAAG
GTCTCTGTCACTGCAAGAGATGATGTGCCCTTCTTTGGACCCCCCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGA
CAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAARTTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGA
ACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGG
GTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGMTGAGCAACAAGAAGCCCAACACYGTGTCCACCAGCCACAGCGGGAGYTTCGCGCCCAACA
ACCCCGACSTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGC
CATTGGCATCGAGAACATACAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAG
TCGGAGAACTCATCCACTCAGAGCTCCCCAGAGATGCCCACGACCAAGAACAGAGCGGAGACCGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCC
GCTCCTCGTCCAGTGCCAGCAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGGTGTGGACGGAGAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAAC
ACCCCACAAGCGGGACTCCTTCATCTATAGCACGTGGCTGGAGGACAGTGTCAGCACCACTAGTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCAC
CCAGACGCCGGCAAGTTGGGGGACCCTGCGTGTCCCGAGATCAAGATCCAGCTGGAAGCATCTGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCC
ACCCCCTCTGAAGGTGAAACTGAGCAGATGAGGCCACAGAAGCACAAGGGGAAGGTGCCGTGTCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCA
ACACCAGCCCGTGGGCTGCCCCCTGCCTCCCCACCCTCCCCATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGG
AAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTG
GGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGAACAAGGTGGGAGAGAGAGTTTGAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCA
GCACAAGGAGGATGTGATATGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTCCAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACT
CTCCCTCTCTGGGCATGTCTGCTACAAATGGACAAGATTATTTCAGAGGTCACTGAAGACTGTGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTT
CCCAGGGACCTCCTATCACCCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGAGGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGA
CCCTCCAGTTCTGCCACAGGTCTGCCGATGCCCTGTCCACTGCCTACACATGACAGACAAGTAACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTC
AGCCAGCACCCAGCTTAACCCCTGCCATCCCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGCTGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCAT
GGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATT
TTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1270):
MAQLRPAVPPGRPRRGSLPAGASWQNTDLFEMIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPET
EPLQSPTTKVKLECNPTARIYRKHFLGKEHFNYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRF
YPVLYPKASRLIVTFDEHVISNNFKFGVIYQKLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVS
TKLPYTEGDAQQLQRKRHIGNDIVAVVFQDENTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKL
INAEYACYKAEKFAKLEERTRAALLETLYEELHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPD
LAKAAGISLIVPGKSPTRKKSGPFGSRRSSAIGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSS
SSASSFASVVEETEGVDGEDTGLESVSSSGTPHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10086):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1609
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 501, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10087):
GCTCGCTGCCCGCGGGGGCCAGCTGGCAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  255
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 49, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10088):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1731
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 541, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10089):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  748
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 214, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10090):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3173
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1270, None   



Context             (SEQ ID NO:10091):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1563
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 485, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10092):
CGCGGAGCTCAGCGCTGCGGGGCCCGGACCCGGGCGCGCGCGGGCCAGGAGCCGGCTGGGCCAGCTGAAGTGCCGCCC
S
GGCGGGGGCCGGGCCGGGCCGCGCTCAGGATGGCACAGCTGCGGCCCGCGGTGCCACCCGGCCGTCCGCGGAGGGGCTCGCTGCCCGCGGGGGCCAGCTG
Celera SNP ID:            hCV7476129
SNP Position Transcript:  79
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1270, None   



Context             (SEQ ID NO:10093):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  525
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 139, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10094):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1344
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 412, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10095):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  520
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 138, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 138, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10096):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2441
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1270, None   



Context             (SEQ ID NO:10097):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  456
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 116, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10098):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1540
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1270, 478, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10099):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1587
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 493, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10100):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  471
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 121, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1270, 121, (Y,TAC)   (Y,TAT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT2254407 - 206000043282980
Public Transcript Accession: NM_002885
Celera Protein:              hCP1855142 - 206000043282942
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4794962)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:574):
AGCAGAGCTGCAGCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGGTTTGGTGCCAGCTGCGGGGCGCCTGGGY
TTGGGGAAGAAACCTTGTGTACGCACACCTGCACACACACACAGTCTCCGGAGGTTAATACCTCTGCCAACCGAGGCCACCCTCCCTCGGACCCCCATTC
GGAGGAAGCAGACCCAAGTTCGAATTCTGACATTGCCACTGAGCAGCCGTACAACTTTTGGAGGAGYGATGGGCAGAACCAGCACTTCCCTCAGGCACTA
GACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCMTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGA
TGGATGAACAACGCTGCTCCTTCCCRCCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTT
CCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACA
ACCAAGGTGAAGCTCGAGTGCAACCCYACAGCCCGCATCTAYCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACRCTGCYCTCG
GCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCATCCC
CATCTCCTGCCTCACCGAGTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAG
GCTTCCCGGCTCATCGTCRCCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAAC
TCTTCAGCACCAATGAGGAAAGTCCCGCTTTCGTGGAGTTCCTTGAATTTCTTGGCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCCGAGGAGGCCT
GGACGTGACCCACGGGCAGACGGGGACCGAATCTGTGTACTGCAACTTCCGCAACAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCCATACACGGAA
GGGGACGCCCAGCAGTTGCAGCGGAAGCGGCACATCGGGAACGACATCGTGGCTGTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCCGACATGATCG
CGTCCAACTTCCTGCATGCCTACGTCGTGGTGCAGGCTGAGGGCGGGGGCCCTGATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAGATGATGTGCC
CTTCTTTGGACCCCCCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGC
TACAAGGCAGAGAARTTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGG
GCTTGGGCGGCGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGA
TGCCATGGGGMTGAGCAACAAGAAGCCCAACACYGTGTCCACCAGCCACAGCGGGAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGCGGCTGGAATA
TCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGC
ASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCC
AGAGATGCCCACGACCAAGAACAGAGCGGAGACCGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCCGCTCCTCGTCCAGTGCCAGCAGCTTCGCC
AGCGTGGTGGAGGAGACGGAGGGTGTGGACGGAGAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAACACCCCACAAGCGGGACTCCTTCATCTATA
GCACGTGGCTGGAGGACAGTGTCAGCACCACTAGTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCACCCAGACGCCGGCAAGTTGGGGGACCCTGC
GTGTCCCGAGATCAAGATCCAGCTGGAAGCATCTGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCCACCCCCTCTGAAGGTGAAACTGAGCAGAT
GAGGCCACAGAAGCACAAGGGGAAGGTGCCGTGTCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCAACACCAGCCCGTGGGCTGCCCCCTGCCTC
CCCACCCTCCCCATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGC
CTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTG
GACTCAGAGGGAACAAGGTGGGAGAGAGAGTTTGAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCAGCACAAGGAGGATGTGATATGTGGGGGAG
TGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTCCAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACTCTCCCTCTCTGGGCATGTCTGCTACAAAT
GGACAAGATTATTTCAGAGGTCACTGAAGACTGTGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTTCCCAGGGACCTCCTATCACCCTACCCTGC
TTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGAGGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGACCCTCCAGTTCTGCCACAGGTCTGCCGAT
GCCCTGTCCACTGCCTACACATGACAGACAAGTAACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTCAGCCAGCACCCAGCTTAACCCCTGCCATC
CCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGCTGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGG
AGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTC
GGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT

Protein Sequence    (SEQ ID NO:1271):
MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHF
NYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQ
KLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEE
LHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSA
IGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10101):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1780
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 470, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10102):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1902
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 510, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10103):
CCAACCGAGGCCACCCTCCCTCGGACCCCCATTCGGAGGAAGCAGACCCAAGTTCGAATTCTGACATTGCCACTGAGCAGCCGTACAACTTTTGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  267
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1271, None



Context             (SEQ ID NO:10104):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2612
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1271, None   



Context             (SEQ ID NO:10105):
AGCAGAGCTGCAGCGGCGGCCGCGGGCACCAGAGTGCCGAGCCCAGGACGCCCCCGGCCCAGGCCCTTGGGGTTTGGTGCCAGCTGCGGGGCGCCTGGG
Y
TTGGGGAAGAAACCTTGTGTACGCACACCTGCACACACACACAGTCTCCGGAGGTTAATACCTCTGCCAACCGAGGCCACCCTCCCTCGGACCCCCATTC
Celera SNP ID:            hCV1944481
SNP Position Transcript:  100
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,13)   total(C,13|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1271, None   



Context             (SEQ ID NO:10106):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1711
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 447, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10107):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  627
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 85, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10108):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1758
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 462, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10109):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  642
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 90, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 90, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10110):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  426
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 18, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10111):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  919
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 183, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10112):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3344
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1271, None   



Context             (SEQ ID NO:10113):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1734
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 454, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10114):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  696
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 108, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10115):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1515
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1271, 381, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10116):
TACAACTTTTGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  350
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1271, None   



Context             (SEQ ID NO:10117):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  691
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 107, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1271, 107, (T,ACT)   (A,GCT)      



Gene Number:                 222
Celera Gene:                 hCG37586 - 206000043283015
Celera Transcript:           hCT1848939 - 206000043283039
Public Transcript Accession: NM_002885
Celera Protein:              hCP1713342 - 206000043282947
Public Protein Accession:    NP_002876
Gene Symbol:                 RAP1GA1
Protein Name:                RAP1, GTPase activating protein 1;KIAA0474;KREV-1;RAP1GAP;SMGP21
Celera Genomic Axis:         GA_x5YUV32W3P1(4721876..4793320)
Chromosome:                  Chr1
OMIM number:                 600278
OMIM Information:            RAP1, GTPase-ACTIVATING PROTEIN 1;RAP1GA1


Transcript Sequence (SEQ ID NO:575):
GATCTCCACAGCGGTGGAGAGGAGGAAGGGTGAACGCCGTGGTGGAGTGGTCCATGTGGACCTGCTCCCCTTTGCTGCCAGGAGGTTAATACCTCTGCCA
ACCGAGGCCACCCTCCCTCGGACCCCCATTCGGAGGAAGCAGACCCAAGTTCGAATTCTGACATTGCCACTGAGCAGCCGTACAACTTTTGGGTGGACAA
GTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAGYGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTAT
ACTCCTTCACTCTACCMTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCRCCGCCCC
TCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTGGGGGCTA
CTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCYACAGCC
CGCATCTAYCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACRCTGCYCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCA
TCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCATCCCCATCTCCTGCCTCACCGAGTTCCCTAATGTTGT
CCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTCRCCTTTGACGAGCAT
GTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGAAAGTCCCGCTTTCG
TGGAGTTCCTTGAATTTCTTGGCCAGAAGGTCAAACTGCAGGACTTTAAGGGGTTCCGAGGAGGCCTGGACGTGACCCACGGGCAGACGGGGACCGAATC
TGTGTACTGCAACTTCCGCAACAAGGAGATCATGTTTCACGTGTCCACCAAGCTGCCATACACGGAAGGGGACGCCCAGCAGTTGCAGCGGAAGCGGCAC
ATCGGGAACGACATCGTGGCTGTGGTCTTCCAGGATGAGAACACTCCTTTCGTGCCCGACATGATCGCGTCCAACTTCCTGCATGCCTACGTCGTGGTGC
AGGCTGAGGGCGGGGGCCCTGATGGCCCCCTCTACAAGGTCTCTGTCACTGCAAGAGATGATGTGCCCTTCTTTGGACCCCCCCTCCCGGACCCCGCTGT
GTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAARTTTGCCAAACTGGAGGAG
CGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACGAGGACAAGATGGAGAATG
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGMTGAGCAACAAGAAGCCCAACAC
YGTGTCCACCAGCCACAGCGGGAGYTTCGCGCCCAACAACCCCGACSTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGG
AAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCASGAGAAGAGGGAGAGCCCTCCGGCTGGTCAGA
AGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAGAGATGCCCACGACCAAGAACAGAGCGGAGAC
CGCAGCGCAGAGAGCAGAGGCGCTCAAGGACTTCTCCCGCTCCTCGTCCAGTGCCAGCAGCTTCGCCAGCGTGGTGGAGGAGACGGAGGGTGTGGACGGA
GAGGACACAGGCCTGGAGAGCGTGTCATCCTCAGGAACACCCCACAAGCGGGACTCCTTCATCTATAGCACGTGGCTGGAGGACAGTGTCAGCACCACTA
GTGGGGGCAGCTCCCCAGGCCCCTCTCGATCACCCCACCCAGACGCCGGCAAGTTGGGGGACCCTGCGTGTCCCGAGATCAAGATCCAGCTGGAAGCATC
TGAGCAGCACATGCCCCAGCTGGGCTGTTAGCCGGGCCACCCCCTCTGAAGGTGAAACTGAGCAGATGAGGCCACAGAAGCACAAGGGGAAGGTGCCGTG
TCAAGCCCAGGCAGACGAGACCTCTGCCCTGAAGACCAACACCAGCCCGTGGGCTGCCCCCTGCCTCCCCACCCTCCCCATGGCCCACCCATCTGGGCTG
TCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTGSGCTGGGGCAGGGATTGCTCAG
TGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGAACAAGGTGGGAGAGAGAGTTT
GAGACAGCTCCGTGTGGAGAGCTTAGCCCCTGGAGGCAGCACAAGGAGGATGTGATATGTGGGGGAGTGAGCACTGGGTTGGGAGCCGGGTCCTGGTTTC
CAATTTGGGTTCTGCTGTGTGACTCTGGGCAAGTCACTCTCCCTCTCTGGGCATGTCTGCTACAAATGGACAAGATTATTTCAGAGGTCACTGAAGACTG
TGATTACATGCACCTGCCTTAGAAGGTAGGATTTTCTTCCCAGGGACCTCCTATCACCCTACCCTGCTTCTTGAGGTCCCTGGAGCCCCAGGTGGGCTGA
GGGGCAGGGAGCCGGCTGTGCCCAGTATGCCTCCTGGACCCTCCAGTTCTGCCACAGGTCTGCCGATGCCCTGTCCACTGCCTACACATGACAGACAAGT
AACCCCCTCATGGGGGATGGGGACCTACCTGGCTCCTCAGCCAGCACCCAGCTTAACCCCTGCCATCCCATGCTGGGCCCTCCAGGCCAAGAGTCTCAGC
TGGCCGAGAGTCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCG
TCACGCCAAARGCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATC
GCTATTGT

Protein Sequence    (SEQ ID NO:1272):
MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHF
NYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQ
KLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEE
LHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSA
IGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC


SNP Information

Context             (SEQ ID NO:10118):
GAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGAC
S
TGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCAT
Celera SNP ID:            hCV26187964
SNP Position Transcript:  1747
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 470, (L,CTG)   (V,GTG)      



Context             (SEQ ID NO:10119):
TCCAGGCCTTGCCTCCCCCGACCGCCATGGAGGGGGCAGCCCGGCACAGCTGCTGGGAGCCCTTGTGTGTCTGGTCACACTTTTTAGGCGTCACGCCAAA
R
GCCAGCCTCCTGGCCCCAATACCCATTTTGGAAGCCCCTGTGGCCGTGTGGATGTCGGTAACAGTTGTATAAAATAAATTCTATTTATCGCTATTGT
Celera SNP ID:            hCV7476289
SNP Position Transcript:  3311
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1272, None   



Context             (SEQ ID NO:10120):
GTTCCCTAATGTTGTCCAGATGGCAAAGTTGGTGTGTGAAGACGTCAATGTGGATCGGTTCTATCCTGTGCTCTACCCCAAGGCTTCCCGGCTCATCGTC
R
CCTTTGACGAGCATGTCATCAGCAATAACTTCAAGTTTGGCGTCATTTATCAGAAGCTTGGGCAGACCTCCGAGGAAGAACTCTTCAGCACCAATGAGGA
Celera SNP ID:            hCV25940479
SNP Position Transcript:  886
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,35|G,1)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 183, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:10121):
CCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCC
R
CCGCCCCTCAAAACAGAGGAGGACTACATTCCATACCCGAGCGTGCACGAGGTCTTGGGGCGAGAAGGACCCTTCCCCCTCATCCTGCTGCCCCAGTTTG
Celera SNP ID:            hCV25934541
SNP Position Transcript:  393
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,32)   caucasian(G,38)   total(A,6|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 18, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10122):
CACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCCGCCGCAGCAGCGCCATTGGCATCGAGAACATACAGGAGGTGCA
S
GAGAAGAGGGAGAGCCCTCCGGCTGGTCAGAAGACCCCAGACAGCGGGCACGTCTCACAGGAGCCCAAGTCGGAGAACTCATCCACTCAGAGCTCCCCAG
Celera SNP ID:            hCV7476209
SNP Position Transcript:  1869
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 510, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10123):
GCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACAC
Y
GTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGA
Celera SNP ID:            hCV15878649
SNP Position Transcript:  1701
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;JBIC-allele(T,259|C,1232)   total(C,1232|T,259)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 454, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10124):
CCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGC
Y
CTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGATGTCA
Celera SNP ID:            hCV25932907
SNP Position Transcript:  663
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,38)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 108, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10125):
AGGAAGCAGACCCAAGTTCGAATTCTGACATTGCCACTGAGCAGCCGTACAACTTTTGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGAGGAG
Y
GATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACCCTAAGAACACAGATCTAT
Celera SNP ID:            hCV25937555
SNP Position Transcript:  234
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,37|T,3)   total(C,72|T,4)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1272, None



Context             (SEQ ID NO:10126):
CCCTCCCGGACCCCGCTGTGTTCAGGAAGGGGCCTGAGTTCCAGGAATTTTTGCTGACAAAGCTGATCAATGCTGAATATGCCTGCTACAAGGCAGAGAA
R
TTTGCCAAACTGGAGGAGCGGACGCGGGCCGCCCTCCTGGAGACGCTCTATGAGGAACTACACATCCACAGCCAGTCCATGATGGGCTTGGGCGGCGACG
Celera SNP ID:            hCV25934901
SNP Position Transcript:  1482
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,40)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 381, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10127):
CGGAGTGTGTGGAGGAGCGATGGGCAGAACCAGCACTTCCCTCAGGCACTAGACCTGTCACGAGTGAACTTAGTTCCCTCCTATACTCCTTCACTCTACC
M
TAAGAACACAGATCTATTTGAGATGATTGAGAAGATGCAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAACAGAGGAGGAC
Celera SNP ID:            hCV3136015
SNP Position Transcript:  317
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,15)   total(A,1|C,15) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1272, None   



Context             (SEQ ID NO:10128):
GTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGAC
R
CTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACCAAGAGCACCTGCGGCTGCTGCTCAGGACCAAGTGCCGGACATACCATGA
Celera SNP ID:            hCV3136007
SNP Position Transcript:  658
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,26)   caucasian(A,16|G,22)   total(A,26|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 107, (T,ACT)   (A,GCT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,12)      total(G,12|A,1) ;no_pop(G,-|A,-)   ;JBIC-allele(G,660|A,837)   total(G,660|A,837)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 107, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10129):
CATGGCCCACCCATCTGGGCTGTCTCTGCAGGGCAGAGCCGTCCAGACCTGGGATCAGGGAAGCTGCTGGCATCGTCCCCACCCCCAGCCTGGGGGTCTG
S
GCTGGGGCAGGGATTGCTCAGTGGAAGCAGGACTGGGGGTCTGGCTTGCCCCCTCCCTGGGCCTCCATCACCCCTGAGCATCCCTCTGGACTCAGAGGGA
Celera SNP ID:            hCV7476283
SNP Position Transcript:  2579
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|G,14)      total(G,14|C,3) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1272, None   



Context             (SEQ ID NO:10130):
CGACGAGGACAAGATGGAGAATGGCAGTGGGGGCGGCGGCTTCTTTGAGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGG
M
TGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAGCTTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGT
Celera SNP ID:            hCV7476196
SNP Position Transcript:  1678
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1272, 447, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10131):
GGGGCTACTGGATTGAGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCC
Y
ACAGCCCGCATCTACCGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACG
Celera SNP ID:            hCV15878636
SNP Position Transcript:  594
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 85, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10132):
AGGGCACCAACCACGAAATCACCAGCATCCCCGAGACAGAGCCACTGCAGTCGCCCACAACCAAGGTGAAGCTCGAGTGCAACCCCACAGCCCGCATCTA
Y
CGGAAGCACTTTCTCGGCAAGGAGCATTTCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTCTTCTCACTCAAGTACGATGTCATCGGGGACC
Celera SNP ID:            hCV15878637
SNP Position Transcript:  609
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,24|T,10)   total(C,54|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 90, (Y,TAC)   (Y,TAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 90, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:10133):
AGTCTTTCAAGCGGGTCATCCGGAGCCGCAGCCAGTCCATGGATGCCATGGGGCTGAGCAACAAGAAGCCCAACACCGTGTCCACCAGCCACAGCGGGAG
Y
TTCGCGCCCAACAACCCCGACCTGGCCAAGGCGGCTGGAATATCACTGATTGTCCCTGGGAAGAGCCCCACGAGGAAGAAGTCGGGCCCGTTCGGCTCCC
Celera SNP ID:            hCV7476197
SNP Position Transcript:  1725
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1272, 462, (S,AGC)   (S,AGT)      



Gene Number:                 223
Celera Gene:                 hCG37601 - 208000030292564
Celera Transcript:           hCT2263081 - 208000030292580
Public Transcript Accession: NM_000176
Celera Protein:              hCP1894509 - 208000030292568
Public Protein Accession:    NP_000167
Gene Symbol:                 NR3C1
Protein Name:                nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor);GCR;GR;GRL
Celera Genomic Axis:         GA_x5YUV32VUFE(32506685..32633119)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:576):
AGCTGAAGACCCGGCCGCCCAGATGATGCGGTGGTGGGGGACCTGCCGGCACGCGACTCCCCCCGGGCCCAAATTGATATTCACTGATGGACTCCAAAGA
ATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGARARGGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACT
GTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCCAAGCAGCGAAGACTTTTGGTTGATKTTCCAAAAGGCTCAGTAAGCA
ATGCGCAGCAGCCAGATCTGTCCAAAGCAGTTTCACTCTCAATGGGACTGTATATGGGAGAGACAGAAACAAAAGTGATGGGAAATGACCTGGGATTCCC
ACAGCAGGGCCAAATCAGCCTTTCCTCGGGGGAAACAGACTTAAAGCTTTTGGAAGAAAGCATTGCAAACCTCAATAGGTCGACCAGTGTTCCAGAGAAC
CCCAAGAGTTCAGCATCCACTGCTGTGTCTGCTGCCCCCACAGAGAAGGAGTTTCCAAAAACTCACTCTGATGTATCTTCAGAACAGCAACATTTGAAGG
GCCAGACTGGCACCAACGGTGGCAATGTGAAATTGTATACCACAGACCAAAGCACCTTTGACATTTTGCAGGATTTGGAGTTTTCTTCTGGGTCCCCAGG
TAAAGAGACGAATGAGAGTCCTTGGAGATCAGACCTGTTGATAGATGAAAACTGTTTGCTTTCTCCTCTGGCGGGAGAAGACGATTCATTCCTTTTGGAA
GGAAACTCGAATGAGGACTGCAAGCCTCTCATTTTACCGGACACTAAACCCAAAATTAAGGATAATGGAGATCTGGTTTTGTCAAGCCCYAGTAATGTAA
CACTGCCCCAAGTGAAAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAARCAAGAGAAACTGGGCACAGTTTACTGTCAGGCAAG
CTTTCCTGGAGCAAATATAATTGGTAATAAAATGTCTGCCATTTCTGTTCATGGTGTGAGTACCTCTGGAGGACAGATGTACCACTATGACATGAATACA
GCATCCCTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAARTTGGARTAGGTGCCAAGGATCTGGAG
ATGACAACTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCCAGCATGAGACCAGATGTAAGCTCTCC
TCCATCCAGCTCCTCAACAGCAACAACAGGACCACCTCCCAAACTCTGCCTGGTGTGCTCTGATGAAGCTTCAGGATGTCATTATGGAGTCTTAACTTGT
GGAAGCTGTAAAGTTTTCTTCAAAAGAGCAGTGGAAGGACAGCACAATTACCTATGTGCTGGAAGGAATGATTGCATCATCGATAAAATTCGAAGAAAAA
ACTGCCCAGCATGCCGCTATCGAAAATGTCTTCAGGCTGGAATGAACCTGGAAGCTCGAAAAACAAAGAAAAAAATAAAAGGAATTCAGCAGGCCACTAC
AGGAGTCTCACAAGAAACCTCTGAAAATCCTGGTAASAAAACAATAGTTCCTGCAACGTTACCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTT
ATTGAACCTGAAGTGTTATATGCAGGATATGATAGCTCTGTTCCAGACTCAACTTGGAGGAWCATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGA
TTGCAGCAGTGAAATGGGCAAAGGCAATACCAGGTTTCAGGAACTTACAYCTGGATGACCAAATGACCCTACTGCAGTACTCCTGGATGTTTCTTATGGC
ATTTGCTCTGGGGTGGAGATCATATAGACAATCAAGTGCAAACCTGCTGTGTTTTGCTCCTGATCTGATTATTAATGAGCAGAGAATGACTCTACCCTGC
ATGTACGACCAATGTAAACACATGCTGTATGTTTCCTCTGAGTTACACAGGCTTCAGGTATCTTATGAAGAGTATCTCTGTATGAAAACCTTACTGCTTC
TCTCTTCAGTTCCTAAGGAYGGTCTGAAGAGCCAAGAGCTATTTGATGAAATTAGAATGACCTACATCAAAGAGCTAGGAAAAGCCATTGTCAAGAGGGA
AGGAAACTCCAGCCAGAACTGGCAGCGGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTGRTTGAAAATCTCCTTAACTATTGCTTCCAA
ACATTTTTGGATAAGACCATGAGTATKGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAAYGGAAATATCAAAAAAC
TTCTGTTTCATCAAAAGTGACTGCCTTAATAAGAATGGTTGCCTTAAAGAAAGTCGAATTAATAGCTTTTATTGTATAAACTATCAGTTTGTCCTGTAGA
GGTTTTGTTGTTTTATTTTTTATTGTTTTCATCTGTTGTTTTGTTTTAAATACGCACTACATGTGGTTTATAGAGGGCCAAGACTTGGCAACAGAAGCAG
TTGAGTCGTCATCACTTTTCAGTGATGGGAGAGTAGATGGTGAAATTTATTAGTTAATATATCCCAGAAATTAGAAACCTTAATATGTGGACGTAATCTC
CACAGTCAAAGAAGGATGGCACCTAAACCACCAGTGCCCAAAGTCTGTGTGATGAACTTTCTCTTCATACTTTTTTTCACAGTTGGCTGGATGAAATTTT
CTAGACTTTCTGTTGGTGTATCCCCCCCCTGTATAKTTAGGATAGCATTTTTGATTTATGCATGGAAACCTGAAAAAAAGTTTACAAGTGTATATCAGAA
AAGGGAAGTTGTGCCTTTTATAGCTATTACTGTCTGGTTTTAACAATTTCCTTTATATTTAGTGAACTACGCTTGCTCATTTTTTCTTACATAATTTTTT
ATTCAAGTTATTGTACAGCTGTTTAAGATGGGCAGCTAGTTCGTAGCTTTCCCAAATAAACTCTAAACATTAATCAATCATCTGTGTGAAAATGGGTTGG
TGCTTCTAACCTGATGGCACTTAGCTATCAGAAGACCACAAAAATTGACTCAAATCTCCAGTATTCTTGTCAAAAAAAAAAAAAAAAAAGCTCATATTTT
GTATATATCTGCTTCAGTGGAGAATTATATAGGTTGTGCAAATTAACAGTCCTAACTGGTATAGAGCACCTAGTCCAGTGACCTGCTGGGTAAACTGTGG
ATGATGGTTGCAAAAGACTAATTTAAAAAATAACTACCAAGAGGCCCTGTCTGTACCTAACGCCCTATTTTTGCAATGGCTATATGGCAAGAAAGCTGGT
AAACTATTTGTCTTTCAGGACCTTTTGAAGTAGTTTGTATAACTTCTTAAAAGTTGTGATTCCAGATAACCAGCTGTAACACAGCTGAGAGACTTTTAAT
CAGACAAAGTAATTCCTCTCACTAAACTTTACCCAAAAACTAAATCTCTAATATGGCAAAAATGGCTAGACACCCATTTTCACATTCCCATCTGTCACCA
ATTGGTTAATCTTTCCTGATGGTACAGGAAAGCTCAGCTACTGAYTTTTGTGATTTAGAACTGTATGTCAGACATCCATGTTTGTAAAACTACACATCCC
TAATGTGTGCCATAGAGTTTAACACAAGTCCTGTGAATTTCTTCACTGTTGAAAATTATTTTAAACAAAATAGAAGCTGTAGTAGCCCTTTCTGTGTGCA
CCTTACCAACTTTCTGTAAACTCAAAACTTAACATATTTACTAAGCCACAAGAAATTTGATTTCTATTCAAGGTGGCCAAATTATTTGTGTAATAGAAAA
CTGAAAATCTAATATTAAAAATATGGAACTTCTAATATATTTTTATATTTAGTTATAGTTTCAGATATATATCATATTGGTATTCACTAATCTGGGAAGG
GAAGGGCTACTGCAGCTTTACATGCAATTTATTAAAATGATTGTAAAATAGCTTGTATAGTGTAAAATAAGAATGATTTTTAGATGAGATTGTTTTATCA
TGACATGTTATATATTTTTTGTAGGKGTCAAAGAAATGCTGATGGATAACCTATATGATTTATAGTTTGTACATGCATTCATACAGGCAGCGATGGTCTC
AGAAACCAAACAGTTTGCTCTAGGGGAAGAGGGAGATGGAGACTGGTCCTGTGTGCAGTGAAGGTTGCTGAGGCTCTGACCCAGTGAGATTACAGAGGAA
GTTATCCTCTGCCTCCCATTCTGACCACCCTTCTCATTCCAACAGTGAGTCTGTCAGCGCAGGTTTAGTTTACTCAATCTCCCCTTGCACTAAAGTATGT
AAAGTATGTAAACAGGAGACAGGAAGGTGGTGCTTACATCCTTAAAGGCACCATCTAATAGCGGGTTACTTTCACATACAGCCCTCCCCCAGCAGTTGAA
TGACAACAGAAGCTTCAGAAGTTTGGCAATAGTTTGCATAGAGGTACCAGCAATATGTAAATAGTGCAGAATCTCATAGGTTGCCAATAATACACTAATT
CCTTTCTRTCCTACAACAAGAGTTTATTTCCAAATAAAATGAGGACATGTTTTTGTTTTCTTTGAATGCTTTTTGAATGTTATTTGTTATTTTCAGTATT
TTGGAGAAATTATTTAATAAAAAAACAATCATTTGCTTTTTGAATGCTCTCTAAAAGGGAATGTAATATTTTAAGATGGTGTGTAACCCGGCTGGATAAA
TTTTTGGTGCCTAAGAAAACTGCTTGAATATTCTTATCAATGACAGTGTTAAGTTTCAAAAAGAGCTTCTAAAACGTAGATTATCATTCCTTTATAGAAT
GTTATGTGGTTAAAACCAGAAAGCACATCTCACACATTAATCTGATTTTCATCCCAACAATCTTGGCGCTCAAAAAATAGAACTCAATGAGAAAAAGAAG
ATTATGTGCACTTCGTTGTCAATAATAAGTCAACTGATGCTCATCGACAACTATAGGAGGCTTTTCATTAAATGGGAAAAGAAGCTGTGCCCTTTTAGGA
TACGTGGGGGAAAAGAAAGTCATCTTAATTATGTTTAATTGTGGATTTAAGTGCTATATGGTGGTGCTGTTTGAAAGCAGATTTATTTCCTATGTATGTG
TTATCTGGCCATCCCAACCCAAACTGTTGAAGTTTGTAGTAACTTCAGTGAGAGTTGGTTACTCACAACAAATCCTGAAAAGTATTTTTAGTGTTTGTAG
GTATTCTGTGGGATACTATACAAGCAGAACTGAGGCACTTAGGACATAACACTTTTGGGGTATATATATCCAAATGCCTAAAACTATGGGAGGAAACCTT
GGCCACCCCAAAAGGAAAACTAACATGATTTGTGTCTATGAAGTGCTGGATAATTAGCATGGGATGAGCTCTGGGCATGCCATGAAGGAAAGCCACGCTC
CCTTCAGAATTCAGAGGCAGGGAGCAATTCCAGTTTCACCTAAGTCTCATAATTTTAGTTCCCTTTTAAAAAYCCTGAAAACTACATCACCATGGAATGA
AAAATATTGTTATACAATACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCTTGGCTGGTCACTCCCTGACTGTAGCTG
TAGGTGAATGTGTTTTTKTGTGTGTGTGTCTGGTTTTAGTGTCAGAAGGGAAATAAAAGTGTAAGGAGGACACTTTAAACCCTTTGGGTGGAGTTTCGTA
ATTTCCCAGACTATTTTCAAGCAACCTGGTCCACCCAGGATTAGTGACCAGGTTTTCAGGAAAGGATTTGCTTCTCTCTAGAAAATGTCTGAAAGGATTT
TATTTTCTGATGAAAGGCTGTATGAAAATACCCTCCTCAAATAACTTGCTTAACTACATATAGATTCAAGTGTGTCAATATTCTATTTTGTATATTAAAT
GCTATATAATGGGGACAAATCTATATTATACTGTGTATGGCATTATTAAGAAGCTTTTTCATTATTTTTTATCACAGTAATTTTAAAATGTGTAAAAATT
AAAACCAGTGACTCCTGTTTAAAAATAAAAGTTGTAGTTTTTTATTCATGCTGAATAATAATCTGTAGTTAAAAAAAAAGTGTCTTTTTACCTACGCAGT
GAAATGTCAGACTGTAAAACCTTGTGTGGAAATGTTTAACTTTTATTTTTTCRTTTAAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAA
TTGGCAGTAAATGTTAGCCATTTACAGCAATGCCAAATATGGAGAAACATCATAATWAAAAAATCTGCTTTTTCA

Protein Sequence    (SEQ ID NO:1273):
MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGN
DLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFS
SGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTV
YCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRP
DVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGI
QQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSW
MFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKA
IVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK


SNP Information

Context             (SEQ ID NO:10134):
GAATAATAATCTGTAGTTAAAAAAAAAGTGTCTTTTTACCTACGCAGTGAAATGTCAGACTGTAAAACCTTGTGTGGAAATGTTTAACTTTTATTTTTTC
R
TTTAAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAATTGGCAGTAAATGTTAGCCATTTACAGCAATGCCAAATATGGAGAAACATCAT
Celera SNP ID:            hCV8951023
SNP Position Transcript:  6253
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,4|A,73)      total(G,4|A,73) ;no_pop(G,-|A,-)   WIAF-CSNP-P(1(G,9|A,77)   total(G,9|A,77) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10135):
TACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCTTGGCTGGTCACTCCCTGACTGTAGCTGTAGGTGAATGTGTTTTT
K
TGTGTGTGTGTCTGGTTTTAGTGTCAGAAGGGAAATAAAAGTGTAAGGAGGACACTTTAAACCCTTTGGGTGGAGTTTCGTAATTTCCCAGACTATTTTC
Celera SNP ID:            hCV3234245
SNP Position Transcript:  5718
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|G,5)      total(G,5|T,3) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,4|G,73)      total(G,73|T,4);SG_12_T(T,3|G,18)   SG_12_G(G,9|T,15)   total(T,18|G,27)   no_pop(T,-|G,-)   WIAF-CSNP-P(1(T,9|G,77)   total(G,77|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10136):
AAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAATTGGCAGTAAATGTTAGCCATTTACAGCAATGCCAAATATGGAGAAACATCATAAT
W
AAAAAATCTGCTTTTTCA
Celera SNP ID:            hCV8951024
SNP Position Transcript:  6357
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10137):
AATCAATCATCTGTGTGAAAATGGGTTGGTGCTTCTAACCTGATGGCACTTAGCTATCAGAAGACCACAAAAATTGACTCAAATCTCCAGTATTCTTGTC
A
AAAAAAAAAAAAAAAAAGCTCATATTTTGTATATATCTGCTTCAGTGGAGAATTATATAGGTTGTGCAAATTAACAGTCCTAACTGGTATAGAGCACCTA
Celera SNP ID:            hCV11837677
SNP Position Transcript:  3172
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|-,5)   total(A,3|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10138):
CGCGACTCCCCCCGGGCCCAAATTGATATTCACTGATGGACTCCAAAGAATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGA
R
AGGGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACT
Celera SNP ID:            hCV11159930
SNP Position Transcript:  152
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 22, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:10139):
CAACTTGGAGGATCATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCAATACCAGGTTTCAGGAACTTACA
Y
CTGGATGACCAAATGACCCTACTGCAGTACTCCTGGATGTTTCTTATGGCATTTGCTCTGGGGTGGAGATCATATAGACAATCAAGTGCAAACCTGCTGT
Celera SNP ID:            hCV3234239
SNP Position Transcript:  1850
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 588, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:10140):
GGGCATGCCATGAAGGAAAGCCACGCTCCCTTCAGAATTCAGAGGCAGGGAGCAATTCCAGTTTCACCTAAGTCTCATAATTTTAGTTCCCTTTTAAAAA
Y
CCTGAAAACTACATCACCATGGAATGAAAAATATTGTTATACAATACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCT
Celera SNP ID:            hCV15756036
SNP Position Transcript:  5573
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,17|C,1472)   total(C,1472|T,17) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10141):
AGAGCTAGGAAAAGCCATTGTCAAGAGGGAAGGAAACTCCAGCCAGAACTGGCAGCGGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTG
R
TTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTATTGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACC
Celera SNP ID:            hCV27863277
SNP Position Transcript:  2271
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 729, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:10142):
AACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCCAAGCAGCGAAGACTTTTGGTTGAT
K
TTCCAAAAGGCTCAGTAAGCAATGCGCAGCAGCCAGATCTGTCCAAAGCAGTTTCACTCTCAATGGGACTGTATATGGGAGAGACAGAAACAAAAGTGAT
Celera SNP ID:            hCV11159938
SNP Position Transcript:  279
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|G,-)    ;WIAF-CSNP-P(1(G,2|T,84)   total(G,2|T,84)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 65, (V,GTT)   (F,TTT)      



Context             (SEQ ID NO:10143):
TCCTTTTGGAAGGAAACTCGAATGAGGACTGCAAGCCTCTCATTTTACCGGACACTAAACCCAAAATTAAGGATAATGGAGATCTGGTTTTGTCAAGCCC
Y
AGTAATGTAACACTGCCCCAAGTGAAAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAAGCAAGAGAAACTGGGCACAGTTTACT
Celera SNP ID:            hCV11159939
SNP Position Transcript:  890
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(T,2|C,84)   total(C,84|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 268, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10144):
GGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTGGTTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTAT
K
GAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAATGGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGACTGCCTT
Celera SNP ID:            hCV27860313
SNP Position Transcript:  2327
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 747, (M,ATG)   (I,ATT)      



Context             (SEQ ID NO:10145):
TCTCTAATATGGCAAAAATGGCTAGACACCCATTTTCACATTCCCATCTGTCACCAATTGGTTAATCTTTCCTGATGGTACAGGAAAGCTCAGCTACTGA
Y
TTTTGTGATTTAGAACTGTATGTCAGACATCCATGTTTGTAAAACTACACATCCCTAATGTGTGCCATAGAGTTTAACACAAGTCCTGTGAATTTCTTCA
Celera SNP ID:            hCV11159956
SNP Position Transcript:  3645
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(C,2|T,84)   total(C,2|T,84)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10146):
ATGGAGATCTGGTTTTGTCAAGCCCCAGTAATGTAACACTGCCCCAAGTGAAAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAA
R
CAAGAGAAACTGGGCACAGTTTACTGTCAGGCAAGCTTTCCTGGAGCAAATATAATTGGTAATAAAATGTCTGCCATTTCTGTTCATGGTGTGAGTACCT
Celera SNP ID:            hCV25616963
SNP Position Transcript:  965
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(G,34)   total(A,4|G,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 293, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10147):
AATTTATTAAAATGATTGTAAAATAGCTTGTATAGTGTAAAATAAGAATGATTTTTAGATGAGATTGTTTTATCATGACATGTTATATATTTTTTGTAGG
K
GTCAAAGAAATGCTGATGGATAACCTATATGATTTATAGTTTGTACATGCATTCATACAGGCAGCGATGGTCTCAGAAACCAAACAGTTTGCTCTAGGGG
Celera SNP ID:            hCV11159957
SNP Position Transcript:  4126
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10148):
AGAAGCTTCAGAAGTTTGGCAATAGTTTGCATAGAGGTACCAGCAATATGTAAATAGTGCAGAATCTCATAGGTTGCCAATAATACACTAATTCCTTTCT
R
TCCTACAACAAGAGTTTATTTCCAAATAAAATGAGGACATGTTTTTGTTTTCTTTGAATGCTTTTTGAATGTTATTTGTTATTTTCAGTATTTTGGAGAA
Celera SNP ID:            hCV11159958
SNP Position Transcript:  4608
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;WIAF-CSNP-P(1(G,2|A,84)   total(G,2|A,84)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10149):
TTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTATTGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAA
Y
GGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGACTGCCTTAATAAGAATGGTTGCCTTAAAGAAAGTCGAATTAATAGCTTTTATTGTATAAACTAT
Celera SNP ID:            hCV1046361
SNP Position Transcript:  2384
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,5|T,31)   total(C,10|T,56)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 766, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,6|T,32)   total(C,13|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 766, (N,AAC)   (N,AAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 766, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:10150):
CAGATGTACCACTATGACATGAATACAGCATCCCTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAA
R
TTGGAATAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCC
Celera SNP ID:            hCV26841917
SNP Position Transcript:  1174
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(G,-|A,-)   ;WIAF-CSNP-P(1(G,2|A,84)   total(G,2|A,84)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 363, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10151):
GCCCAAAGTCTGTGTGATGAACTTTCTCTTCATACTTTTTTTCACAGTTGGCTGGATGAAATTTTCTAGACTTTCTGTTGGTGTATCCCCCCCCTGTATA
K
TTAGGATAGCATTTTTGATTTATGCATGGAAACCTGAAAAAAAGTTTACAAGTGTATATCAGAAAAGGGAAGTTGTGCCTTTTATAGCTATTACTGTCTG
Celera SNP ID:            hCV11160424
SNP Position Transcript:  2836
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1273, None   



Context             (SEQ ID NO:10152):
CTGGAATGAACCTGGAAGCTCGAAAAACAAAGAAAAAAATAAAAGGAATTCAGCAGGCCACTACAGGAGTCTCACAAGAAACCTCTGAAAATCCTGGTAA
S
AAAACAATAGTTCCTGCAACGTTACCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAACCTGAAGTGTTATATGCAGGATATGATAGCT
Celera SNP ID:            hCV1046354
SNP Position Transcript:  1637
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 517, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:10153):
TACCACTATGACATGAATACAGCATCCCTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAAATTGGA
R
TAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCCAGCATG
Celera SNP ID:            hCV26841918
SNP Position Transcript:  1180
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(G,25|A,406)      total(G,25|A,406) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 365, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10154):
CCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAACCTGAAGTGTTATATGCAGGATATGATAGCTCTGTTCCAGACTCAACTTGGAGGA
W
CATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCAATACCAGGTTTCAGGAACTTACACCTGGATGACCAA
Celera SNP ID:            hCV27541057
SNP Position Transcript:  1762
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 559, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10155):
ACATGCTGTATGTTTCCTCTGAGTTACACAGGCTTCAGGTATCTTATGAAGAGTATCTCTGTATGAAAACCTTACTGCTTCTCTCTTCAGTTCCTAAGGA
Y
GGTCTGAAGAGCCAAGAGCTATTTGATGAAATTAGAATGACCTACATCAAAGAGCTAGGAAAAGCCATTGTCAAGAGGGAAGGAAACTCCAGCCAGAACT
Celera SNP ID:            hCV1046359
SNP Position Transcript:  2120
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1273, 678, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:10156):
CGACTCCCCCCGGGCCCAAATTGATATTCACTGATGGACTCCAAAGAATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGAGA
R
GGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCC
Celera SNP ID:            hCV4041
SNP Position Transcript:  154
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1273, 23, (K,AAG)   (R,AGG)      



Gene Number:                 223
Celera Gene:                 hCG37601 - 208000030292564
Celera Transcript:           hCT28834 - 208000030292566
Public Transcript Accession: NM_000176
Celera Protein:              hCP47558 - 208000030292573
Public Protein Accession:    NP_000167
Gene Symbol:                 NR3C1
Protein Name:                nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor);GCR;GR;GRL
Celera Genomic Axis:         GA_x5YUV32VUFE(32507365..32633119)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:577):
CGGCCGCCGCGCGGCCCCTCGGGCGGGGAGCGGCCGGGGGTGGAGTGGGAGCGCGTGTGTGCGAGTGTGTGCGCGCCGTGGCGCCGCCTCCACCCGCTCC
CCGCTCGGTCCCGCTCGCTCGCCCAGGCCGGGCTGCCCTTTCGCGTGTCCGCGCTCTCTTCCCTCCGCCGCCGCCTCCTCCATTTTGCGAGCTCGTGTCT
GTGACGGGAGCCCGAGTCACCGCCTGCCCGTCGGGGACGGATTCTGTGGGTGGAAGGAGACGCCGCAGCCGGAGCGGCCGAAGCAGCTGGGACCGGGACG
GGGCACGCGCGCCCGGAACCTCGACCCGCGGAGCCCGGCGCGGGGCGGAGGGCTGGCTTGTCAGCTGGGCAATGGGAGACTTTCTTAAATAGGGGCTCTC
CCCCCACCCATGGAGAAAGGGGCGGCTGTTTACTTCCTTTTTTTAGAAAAAAAAAATATATTTCCCTCCTGCTCCTTCTGCGTTCACAAGCTAAGTTGTT
TATCTCGGCTGCGGCGGGAACTGCGGACGGTGGCGGGCGAGCGGCTCCTCTGCCAGAGTTGATATTCACTGATGGACTCCAAAGAATCATTAACTCCTGG
TAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGARARGGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCG
TCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCCAAGCAGCGAAGACTTTTGGTTGATKTTCCAAAAGGCTCAGTAAGCAATGCGCAGCAGCCAG
ATCTGTCCAAAGCAGTTTCACTCTCAATGGGACTGTATATGGGAGAGACAGAAACAAAAGTGATGGGAAATGACCTGGGATTCCCACAGCAGGGCCAAAT
CAGCCTTTCCTCGGGGGAAACAGACTTAAAGCTTTTGGAAGAAAGCATTGCAAACCTCAATAGGTCGACCAGTGTTCCAGAGAACCCCAAGAGTTCAGCA
TCCACTGCTGTGTCTGCTGCCCCCACAGAGAAGGAGTTTCCAAAAACTCACTCTGATGTATCTTCAGAACAGCAACATTTGAAGGGCCAGACTGGCACCA
ACGGTGGCAATGTGAAATTGTATACCACAGACCAAAGCACCTTTGACATTTTGCAGGATTTGGAGTTTTCTTCTGGGTCCCCAGGTAAAGAGACGAATGA
GAGTCCTTGGAGATCAGACCTGTTGATAGATGAAAACTGTTTGCTTTCTCCTCTGGCGGGAGAAGACGATTCATTCCTTTTGGAAGGAAACTCGAATGAG
GACTGCAAGCCTCTCATTTTACCGGACACTAAACCCAAAATTAAGGATAATGGAGATCTGGTTTTGTCAAGCCCYAGTAATGTAACACTGCCCCAAGTGA
AAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAARCAAGAGAAACTGGGCACAGTTTACTGTCAGGCAAGCTTTCCTGGAGCAAA
TATAATTGGTAATAAAATGTCTGCCATTTCTGTTCATGGTGTGAGTACCTCTGGAGGACAGATGTACCACTATGACATGAATACAGCATCCCTTTCTCAA
CAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAARTTGGARTAGGTGCCAAGGATCTGGAGATGACAACTTGACTT
CTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCCAGCATGAGACCAGATGTAAGCTCTCCTCCATCCAGCTCCTC
AACAGCAACAACAGGACCACCTCCCAAACTCTGCCTGGTGTGCTCTGATGAAGCTTCAGGATGTCATTATGGAGTCTTAACTTGTGGAAGCTGTAAAGTT
TTCTTCAAAAGAGCAGTGGAAGGACAGCACAATTACCTATGTGCTGGAAGGAATGATTGCATCATCGATAAAATTCGAAGAAAAAACTGCCCAGCATGCC
GCTATCGAAAATGTCTTCAGGCTGGAATGAACCTGGAAGCTCGAAAAACAAAGAAAAAAATAAAAGGAATTCAGCAGGCCACTACAGGAGTCTCACAAGA
AACCTCTGAAAATCCTGGTAASAAAACAATAGTTCCTGCAACGTTACCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAACCTGAAGTG
TTATATGCAGGATATGATAGCTCTGTTCCAGACTCAACTTGGAGGAWCATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAAT
GGGCAAAGGCAATACCAGGTTTCAGGAACTTACAYCTGGATGACCAAATGACCCTACTGCAGTACTCCTGGATGTTTCTTATGGCATTTGCTCTGGGGTG
GAGATCATATAGACAATCAAGTGCAAACCTGCTGTGTTTTGCTCCTGATCTGATTATTAATGAGCAGAGAATGACTCTACCCTGCATGTACGACCAATGT
AAACACATGCTGTATGTTTCCTCTGAGTTACACAGGCTTCAGGTATCTTATGAAGAGTATCTCTGTATGAAAACCTTACTGCTTCTCTCTTCAGTTCCTA
AGGAYGGTCTGAAGAGCCAAGAGCTATTTGATGAAATTAGAATGACCTACATCAAAGAGCTAGGAAAAGCCATTGTCAAGAGGGAAGGAAACTCCAGCCA
GAACTGGCAGCGGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTGRTTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAG
ACCATGAGTATKGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAAYGGAAATATCAAAAAACTTCTGTTTCATCAAA
AGTGACTGCCTTAATAAGAATGGTTGCCTTAAAGAAAGTCGAATTAATAGCTTTTATTGTATAAACTATCAGTTTGTCCTGTAGAGGTTTTGTTGTTTTA
TTTTTTATTGTTTTCATCTGTTGTTTTGTTTTAAATACGCACTACATGTGGTTTATAGAGGGCCAAGACTTGGCAACAGAAGCAGTTGAGTCGTCATCAC
TTTTCAGTGATGGGAGAGTAGATGGTGAAATTTATTAGTTAATATATCCCAGAAATTAGAAACCTTAATATGTGGACGTAATCTCCACAGTCAAAGAAGG
ATGGCACCTAAACCACCAGTGCCCAAAGTCTGTGTGATGAACTTTCTCTTCATACTTTTTTTCACAGTTGGCTGGATGAAATTTTCTAGACTTTCTGTTG
GTGTATCCCCCCCCTGTATAKTTAGGATAGCATTTTTGATTTATGCATGGAAACCTGAAAAAAAGTTTACAAGTGTATATCAGAAAAGGGAAGTTGTGCC
TTTTATAGCTATTACTGTCTGGTTTTAACAATTTCCTTTATATTTAGTGAACTACGCTTGCTCATTTTTTCTTACATAATTTTTTATTCAAGTTATTGTA
CAGCTGTTTAAGATGGGCAGCTAGTTCGTAGCTTTCCCAAATAAACTCTAAACATTAATCAATCATCTGTGTGAAAATGGGTTGGTGCTTCTAACCTGAT
GGCACTTAGCTATCAGAAGACCACAAAAATTGACTCAAATCTCCAGTATTCTTGTCAAAAAAAAAAAAAAAAAAGCTCATATTTTGTATATATCTGCTTC
AGTGGAGAATTATATAGGTTGTGCAAATTAACAGTCCTAACTGGTATAGAGCACCTAGTCCAGTGACCTGCTGGGTAAACTGTGGATGATGGTTGCAAAA
GACTAATTTAAAAAATAACTACCAAGAGGCCCTGTCTGTACCTAACGCCCTATTTTTGCAATGGCTATATGGCAAGAAAGCTGGTAAACTATTTGTCTTT
CAGGACCTTTTGAAGTAGTTTGTATAACTTCTTAAAAGTTGTGATTCCAGATAACCAGCTGTAACACAGCTGAGAGACTTTTAATCAGACAAAGTAATTC
CTCTCACTAAACTTTACCCAAAAACTAAATCTCTAATATGGCAAAAATGGCTAGACACCCATTTTCACATTCCCATCTGTCACCAATTGGTTAATCTTTC
CTGATGGTACAGGAAAGCTCAGCTACTGAYTTTTGTGATTTAGAACTGTATGTCAGACATCCATGTTTGTAAAACTACACATCCCTAATGTGTGCCATAG
AGTTTAACACAAGTCCTGTGAATTTCTTCACTGTTGAAAATTATTTTAAACAAAATAGAAGCTGTAGTAGCCCTTTCTGTGTGCACCTTACCAACTTTCT
GTAAACTCAAAACTTAACATATTTACTAAGCCACAAGAAATTTGATTTCTATTCAAGGTGGCCAAATTATTTGTGTAATAGAAAACTGAAAATCTAATAT
TAAAAATATGGAACTTCTAATATATTTTTATATTTAGTTATAGTTTCAGATATATATCATATTGGTATTCACTAATCTGGGAAGGGAAGGGCTACTGCAG
CTTTACATGCAATTTATTAAAATGATTGTAAAATAGCTTGTATAGTGTAAAATAAGAATGATTTTTAGATGAGATTGTTTTATCATGACATGTTATATAT
TTTTTGTAGGKGTCAAAGAAATGCTGATGGATAACCTATATGATTTATAGTTTGTACATGCATTCATACAGGCAGCGATGGTCTCAGAAACCAAACAGTT
TGCTCTAGGGGAAGAGGGAGATGGAGACTGGTCCTGTGTGCAGTGAAGGTTGCTGAGGCTCTGACCCAGTGAGATTACAGAGGAAGTTATCCTCTGCCTC
CCATTCTGACCACCCTTCTCATTCCAACAGTGAGTCTGTCAGCGCAGGTTTAGTTTACTCAATCTCCCCTTGCACTAAAGTATGTAAAGTATGTAAACAG
GAGACAGGAAGGTGGTGCTTACATCCTTAAAGGCACCATCTAATAGCGGGTTACTTTCACATACAGCCCTCCCCCAGCAGTTGAATGACAACAGAAGCTT
CAGAAGTTTGGCAATAGTTTGCATAGAGGTACCAGCAATATGTAAATAGTGCAGAATCTCATAGGTTGCCAATAATACACTAATTCCTTTCTRTCCTACA
ACAAGAGTTTATTTCCAAATAAAATGAGGACATGTTTTTGTTTTCTTTGAATGCTTTTTGAATGTTATTTGTTATTTTCAGTATTTTGGAGAAATTATTT
AATAAAAAAACAATCATTTGCTTTTTGAATGCTCTCTAAAAGGGAATGTAATATTTTAAGATGGTGTGTAACCCGGCTGGATAAATTTTTGGTGCCTAAG
AAAACTGCTTGAATATTCTTATCAATGACAGTGTTAAGTTTCAAAAAGAGCTTCTAAAACGTAGATTATCATTCCTTTATAGAATGTTATGTGGTTAAAA
CCAGAAAGCACATCTCACACATTAATCTGATTTTCATCCCAACAATCTTGGCGCTCAAAAAATAGAACTCAATGAGAAAAAGAAGATTATGTGCACTTCG
TTGTCAATAATAAGTCAACTGATGCTCATCGACAACTATAGGAGGCTTTTCATTAAATGGGAAAAGAAGCTGTGCCCTTTTAGGATACGTGGGGGAAAAG
AAAGTCATCTTAATTATGTTTAATTGTGGATTTAAGTGCTATATGGTGGTGCTGTTTGAAAGCAGATTTATTTCCTATGTATGTGTTATCTGGCCATCCC
AACCCAAACTGTTGAAGTTTGTAGTAACTTCAGTGAGAGTTGGTTACTCACAACAAATCCTGAAAAGTATTTTTAGTGTTTGTAGGTATTCTGTGGGATA
CTATACAAGCAGAACTGAGGCACTTAGGACATAACACTTTTGGGGTATATATATCCAAATGCCTAAAACTATGGGAGGAAACCTTGGCCACCCCAAAAGG
AAAACTAACATGATTTGTGTCTATGAAGTGCTGGATAATTAGCATGGGATGAGCTCTGGGCATGCCATGAAGGAAAGCCACGCTCCCTTCAGAATTCAGA
GGCAGGGAGCAATTCCAGTTTCACCTAAGTCTCATAATTTTAGTTCCCTTTTAAAAAYCCTGAAAACTACATCACCATGGAATGAAAAATATTGTTATAC
AATACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCTTGGCTGGTCACTCCCTGACTGTAGCTGTAGGTGAATGTGTTT
TTKTGTGTGTGTGTCTGGTTTTAGTGTCAGAAGGGAAATAAAAGTGTAAGGAGGACACTTTAAACCCTTTGGGTGGAGTTTCGTAATTTCCCAGACTATT
TTCAAGCAACCTGGTCCACCCAGGATTAGTGACCAGGTTTTCAGGAAAGGATTTGCTTCTCTCTAGAAAATGTCTGAAAGGATTTTATTTTCTGATGAAA
GGCTGTATGAAAATACCCTCCTCAAATAACTTGCTTAACTACATATAGATTCAAGTGTGTCAATATTCTATTTTGTATATTAAATGCTATATAATGGGGA
CAAATCTATATTATACTGTGTATGGCATTATTAAGAAGCTTTTTCATTATTTTTTATCACAGTAATTTTAAAATGTGTAAAAATTAAAACCAGTGACTCC
TGTTTAAAAATAAAAGTTGTAGTTTTTTATTCATGCTGAATAATAATCTGTAGTTAAAAAAAAAGTGTCTTTTTACCTACGCAGTGAAATGTCAGACTGT
AAAACCTTGTGTGGAAATGTTTAACTTTTATTTTTTCRTTTAAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAATTGGCAGTAAATGTT
AGCCATTTACAGCAATGCCAAATATGGAGAAACATCATAATWAAAAAATCTGCTTTTTCA

Protein Sequence    (SEQ ID NO:1274):
MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGN
DLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFS
SGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTV
YCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRP
DVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGI
QQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSW
MFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKA
IVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK


SNP Information

Context             (SEQ ID NO:10157):
GAATAATAATCTGTAGTTAAAAAAAAAGTGTCTTTTTACCTACGCAGTGAAATGTCAGACTGTAAAACCTTGTGTGGAAATGTTTAACTTTTATTTTTTC
R
TTTAAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAATTGGCAGTAAATGTTAGCCATTTACAGCAATGCCAAATATGGAGAAACATCAT
Celera SNP ID:            hCV8951023
SNP Position Transcript:  6738
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,4|A,73)      total(G,4|A,73) ;no_pop(G,-|A,-)   WIAF-CSNP-P(1(G,9|A,77)   total(G,9|A,77) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10158):
TACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCTTGGCTGGTCACTCCCTGACTGTAGCTGTAGGTGAATGTGTTTTT
K
TGTGTGTGTGTCTGGTTTTAGTGTCAGAAGGGAAATAAAAGTGTAAGGAGGACACTTTAAACCCTTTGGGTGGAGTTTCGTAATTTCCCAGACTATTTTC
Celera SNP ID:            hCV3234245
SNP Position Transcript:  6203
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|G,5)      total(G,5|T,3) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,4|G,73)      total(G,73|T,4);SG_12_T(T,3|G,18)   SG_12_G(G,9|T,15)   total(T,18|G,27)   no_pop(T,-|G,-)   WIAF-CSNP-P(1(T,9|G,77)   total(G,77|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10159):
AAATTTGCTGTTCTGGTATTACCAAACCACACATTTGTACCGAATTGGCAGTAAATGTTAGCCATTTACAGCAATGCCAAATATGGAGAAACATCATAAT
W
AAAAAATCTGCTTTTTCA
Celera SNP ID:            hCV8951024
SNP Position Transcript:  6842
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10160):
AATCAATCATCTGTGTGAAAATGGGTTGGTGCTTCTAACCTGATGGCACTTAGCTATCAGAAGACCACAAAAATTGACTCAAATCTCCAGTATTCTTGTC
A
AAAAAAAAAAAAAAAAAGCTCATATTTTGTATATATCTGCTTCAGTGGAGAATTATATAGGTTGTGCAAATTAACAGTCCTAACTGGTATAGAGCACCTA
Celera SNP ID:            hCV11837677
SNP Position Transcript:  3657
SNP Source:               Celera
Population(Allele,Count): no_pop(A,3|-,5)   total(A,3|-,5) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10161):
GCGAGCGGCTCCTCTGCCAGAGTTGATATTCACTGATGGACTCCAAAGAATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGA
R
AGGGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACT
Celera SNP ID:            hCV11159930
SNP Position Transcript:  637
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 22, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:10162):
CAACTTGGAGGATCATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCAATACCAGGTTTCAGGAACTTACA
Y
CTGGATGACCAAATGACCCTACTGCAGTACTCCTGGATGTTTCTTATGGCATTTGCTCTGGGGTGGAGATCATATAGACAATCAAGTGCAAACCTGCTGT
Celera SNP ID:            hCV3234239
SNP Position Transcript:  2335
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 588, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:10163):
GGGCATGCCATGAAGGAAAGCCACGCTCCCTTCAGAATTCAGAGGCAGGGAGCAATTCCAGTTTCACCTAAGTCTCATAATTTTAGTTCCCTTTTAAAAA
Y
CCTGAAAACTACATCACCATGGAATGAAAAATATTGTTATACAATACATTGATCTGTCAAACTTCCAGAACCATGGTAGCCTTCAGTGAGATTTCCATCT
Celera SNP ID:            hCV15756036
SNP Position Transcript:  6058
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,17|C,1472)   total(C,1472|T,17) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10164):
AGAGCTAGGAAAAGCCATTGTCAAGAGGGAAGGAAACTCCAGCCAGAACTGGCAGCGGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTG
R
TTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTATTGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACC
Celera SNP ID:            hCV27863277
SNP Position Transcript:  2756
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 729, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:10165):
AACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCCAAGCAGCGAAGACTTTTGGTTGAT
K
TTCCAAAAGGCTCAGTAAGCAATGCGCAGCAGCCAGATCTGTCCAAAGCAGTTTCACTCTCAATGGGACTGTATATGGGAGAGACAGAAACAAAAGTGAT
Celera SNP ID:            hCV11159938
SNP Position Transcript:  764
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|G,-)    ;WIAF-CSNP-P(1(G,2|T,84)   total(G,2|T,84)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 65, (V,GTT)   (F,TTT)      



Context             (SEQ ID NO:10166):
TCCTTTTGGAAGGAAACTCGAATGAGGACTGCAAGCCTCTCATTTTACCGGACACTAAACCCAAAATTAAGGATAATGGAGATCTGGTTTTGTCAAGCCC
Y
AGTAATGTAACACTGCCCCAAGTGAAAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAAGCAAGAGAAACTGGGCACAGTTTACT
Celera SNP ID:            hCV11159939
SNP Position Transcript:  1375
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(T,2|C,84)   total(C,84|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 268, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10167):
GGTTTTATCAACTGACAAAACTCTTGGATTCTATGCATGAAGTGGTTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTAT
K
GAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAATGGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGACTGCCTT
Celera SNP ID:            hCV27860313
SNP Position Transcript:  2812
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 747, (M,ATG)   (I,ATT)      



Context             (SEQ ID NO:10168):
TCTCTAATATGGCAAAAATGGCTAGACACCCATTTTCACATTCCCATCTGTCACCAATTGGTTAATCTTTCCTGATGGTACAGGAAAGCTCAGCTACTGA
Y
TTTTGTGATTTAGAACTGTATGTCAGACATCCATGTTTGTAAAACTACACATCCCTAATGTGTGCCATAGAGTTTAACACAAGTCCTGTGAATTTCTTCA
Celera SNP ID:            hCV11159956
SNP Position Transcript:  4130
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(C,2|T,84)   total(C,2|T,84)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10169):
ATGGAGATCTGGTTTTGTCAAGCCCCAGTAATGTAACACTGCCCCAAGTGAAAACAGAAAAAGAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAA
R
CAAGAGAAACTGGGCACAGTTTACTGTCAGGCAAGCTTTCCTGGAGCAAATATAATTGGTAATAAAATGTCTGCCATTTCTGTTCATGGTGTGAGTACCT
Celera SNP ID:            hCV25616963
SNP Position Transcript:  1450
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(G,34)   total(A,4|G,68)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 293, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:10170):
AATTTATTAAAATGATTGTAAAATAGCTTGTATAGTGTAAAATAAGAATGATTTTTAGATGAGATTGTTTTATCATGACATGTTATATATTTTTTGTAGG
K
GTCAAAGAAATGCTGATGGATAACCTATATGATTTATAGTTTGTACATGCATTCATACAGGCAGCGATGGTCTCAGAAACCAAACAGTTTGCTCTAGGGG
Celera SNP ID:            hCV11159957
SNP Position Transcript:  4611
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10171):
AGAAGCTTCAGAAGTTTGGCAATAGTTTGCATAGAGGTACCAGCAATATGTAAATAGTGCAGAATCTCATAGGTTGCCAATAATACACTAATTCCTTTCT
R
TCCTACAACAAGAGTTTATTTCCAAATAAAATGAGGACATGTTTTTGTTTTCTTTGAATGCTTTTTGAATGTTATTTGTTATTTTCAGTATTTTGGAGAA
Celera SNP ID:            hCV11159958
SNP Position Transcript:  5093
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;WIAF-CSNP-P(1(G,2|A,84)   total(G,2|A,84)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10172):
TTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTATTGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAGATACCAAAATATTCAAA
Y
GGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGACTGCCTTAATAAGAATGGTTGCCTTAAAGAAAGTCGAATTAATAGCTTTTATTGTATAAACTAT
Celera SNP ID:            hCV1046361
SNP Position Transcript:  2869
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,5|T,31)   total(C,10|T,56)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 766, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,31)   caucasian(C,6|T,32)   total(C,13|T,63)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 766, (N,AAC)   (N,AAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 766, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:10173):
CAGATGTACCACTATGACATGAATACAGCATCCCTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAA
R
TTGGAATAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCC
Celera SNP ID:            hCV26841917
SNP Position Transcript:  1659
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(G,-|A,-)   ;WIAF-CSNP-P(1(G,2|A,84)   total(G,2|A,84)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 363, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10174):
GCCCAAAGTCTGTGTGATGAACTTTCTCTTCATACTTTTTTTCACAGTTGGCTGGATGAAATTTTCTAGACTTTCTGTTGGTGTATCCCCCCCCTGTATA
K
TTAGGATAGCATTTTTGATTTATGCATGGAAACCTGAAAAAAAGTTTACAAGTGTATATCAGAAAAGGGAAGTTGTGCCTTTTATAGCTATTACTGTCTG
Celera SNP ID:            hCV11160424
SNP Position Transcript:  3321
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1274, None   



Context             (SEQ ID NO:10175):
CTGGAATGAACCTGGAAGCTCGAAAAACAAAGAAAAAAATAAAAGGAATTCAGCAGGCCACTACAGGAGTCTCACAAGAAACCTCTGAAAATCCTGGTAA
S
AAAACAATAGTTCCTGCAACGTTACCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAACCTGAAGTGTTATATGCAGGATATGATAGCT
Celera SNP ID:            hCV1046354
SNP Position Transcript:  2122
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 517, (N,AAC)   (K,AAG)      



Context             (SEQ ID NO:10176):
TACCACTATGACATGAATACAGCATCCCTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAAATTGGA
R
TAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAGCCCCAGCATG
Celera SNP ID:            hCV26841918
SNP Position Transcript:  1665
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(G,25|A,406)      total(G,25|A,406) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 365, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10177):
CCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAACCTGAAGTGTTATATGCAGGATATGATAGCTCTGTTCCAGACTCAACTTGGAGGA
W
CATGACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCAATACCAGGTTTCAGGAACTTACACCTGGATGACCAA
Celera SNP ID:            hCV27541057
SNP Position Transcript:  2247
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 559, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10178):
ACATGCTGTATGTTTCCTCTGAGTTACACAGGCTTCAGGTATCTTATGAAGAGTATCTCTGTATGAAAACCTTACTGCTTCTCTCTTCAGTTCCTAAGGA
Y
GGTCTGAAGAGCCAAGAGCTATTTGATGAAATTAGAATGACCTACATCAAAGAGCTAGGAAAAGCCATTGTCAAGAGGGAAGGAAACTCCAGCCAGAACT
Celera SNP ID:            hCV1046359
SNP Position Transcript:  2605
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1274, 678, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:10179):
GAGCGGCTCCTCTGCCAGAGTTGATATTCACTGATGGACTCCAAAGAATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCTCAGGAGA
R
GGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAGGTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCC
Celera SNP ID:            hCV4041
SNP Position Transcript:  639
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1274, 23, (K,AAG)   (R,AGG)      



Gene Number:                 224
Celera Gene:                 hCG37668 - 206000045734829
Celera Transcript:           hCT2286619 - 206000045734886
Public Transcript Accession: NM_003950
Celera Protein:              hCP1896211 - 206000045734847
Public Protein Accession:    NP_003941
Gene Symbol:                 VIP
Protein Name:                alpha-2 macroglobulin family protein VIP;KIAA1283
Celera Genomic Axis:         GA_x5YUV32W1A1(8121534..8255225)
Chromosome:                  Chr19
OMIM number:                 192320
OMIM Information:            VASOACTIVE INTESTINAL PEPTIDE;VIP


Transcript Sequence (SEQ ID NO:578):
CCCCCAGGAGCCGAAAAATGAGCGGCGCCCTGCTCTGGCCGTTGCTCCCGCTCCTGCTCCTGCTGCTGTCGGCGCGGGACGGCGTGCGCGCCGCGCAGCC
TCAGGCCCCGGGTTACTTGATTGCAGCTCCCTCTGTTTTTCGCGCGGGCGTGGAGGAAGTCATCAGCGTGACCATCTTTAACTCTCCAAGGGAAGTCACG
GTCCAGGCTCAGCTGGTGGCCCAGGGTGAGCCGGTGGTGCAGAGCCAGGGAGCCATCCTGGATAAAGGGACAATCAAACTCAAGGTGCCCACGGGCCTCC
GGGGCCAAGCGCTTCTGAAAGTGTGGGGCCGCGGCTGGCAGGCGGAGGAGGGGCCCCTCTTTCACAACCAGACCTCGGTGACCGTGGAYGGCCGGGGCGC
TTCTGTATTCATCCAGACGGACAAGCCTGTGTACAGACCCCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGCCTGTCAACGAG
AAGCTGGAAGCCTACATCCTGGACCCCCGAGGCTCTCRGATGATAGAGTGGAGACACTTAAAGCCGTTCTGCTGCGGCATCACCAACATGAGCTTCCCCT
TGTCCGACCAGCCTGTGTTGGGAGAATGGTTCATTTTTGTTGAAATGCAAGGCCACGCGTACAACAAGTCTTTTGAAGTTCAGAAGTATGTGTTGCCCAA
GTTYGAGCTTCTGATTGACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCT
GGTGCCTTAAYGATCAACATGACTGTTAATGGTGTRGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCYRGG
ACTTCRACATCTGCGTGAGGGACATGATCCCAGCRGACRTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATRRTGACCAGTGTGGACGGGAG
CCAGCAGGTCRCGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCAGTTCAAGCCGGGCCTGGCC
TACGTGGGGAAGGTGGAGCTATCCTACCCCGATGGCAGCCCAGCTGAGGGGGTGACGGTCCAGATTAAGGCAGAGCTGACACCAAAGGATAACATCTACA
CCAGTGAAGTTGTGTCCCAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACT
GAACGGGAAGCCYGWGGGGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCC
CACCCACTGCAGGTTGGGGAAGAAGCCTATTTTTCTGTGAAGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTG
TGCTATCGGGCCAGCAGCCTGCCCACAYCACCCAGCAGCGMAGCAAGCGGGCRGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGAC
AGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGAMGTGTGTGTGACCTCTCTTCRTCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTC
TTCTACGTCAGGGAGAATGGAGAAGGGGTCGCCGACAGCCTTCAGTTTGCAGTCGAGACCTTCTTCGAAAACCAGGTTTCAGTGACGTATTCAGCAAATG
AGACCCAACCTGGGGAGGTTGTCGACCTGCGGATCAGGGCTGCAAGGGGCAGCTGTGTGTGCGTCGCCGCAGTTGATAAGAGTGTCTACCTGCTCAGGTC
TGGGTTCCGGCTGACTCCTGCCCAGGTTTTCCAGGAACTGGAAGATTATGATGTTTCTGATTCCTTTGGCGTGTCCAGGGAGGATGGTCCTTTTTGGTGG
GCTGGGCTGACGGCACAACGACGCCGGCGCTCCTCTGTCTTCCCGTGGCCTTGGGGCATCACCAAGGACTCTGGGTTTGCCTTCACCGAAACGGGACTGG
TGGTGATGACCGAMCGAGTGAGCCTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGT
GGCAGTGGCTCCTTCCAGGCACCMCCCCAGAACAGAGAAGAGAAAAAGGACTTTCTTCCCCGAAACATGGATTTGGCATTGTCTCAACATCAGTGACCCA
TCTGGTGAGGGGACACTCAGTGTGAAGGTCCCGGACTCCATCACCAGCTGGGTGGGTGAGGCCGTGGCCCTGTCCACCTCTCAGGGCTTAGGCATCGCCG
AGCCCTCCCTGCTGAAGACCTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAGRTCCCGCTCAGTGTCTA
CAACTACATGGGCACCTGCRCTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACGCCATGTGACCAAGAAG
ATGTGTGTGGCCCCCGGGGAGGCTGAGCCCATCTGGGTCGTTCTGTCCTTCAGCGACCTGGGACTCAACAACATCACGGCCAAAGCCCTTGCTTACGGAG
ACACAAATTGCTGCCGGGATGGGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGT
GATGGTTGAGGCRGAAGGAGTYCCCCGGGCGTACACSTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTC
CAGTATGTGCAGCGGCCACTGCGCCTCACCCGCTTTGATGTGGCTGTGCGAGCTCACAATGATGCCCGTGTGGCCTTGTCTTCTGGGCCCCAGGACACAG
CAGGCATGATCGAGATCGTCCTGGGGGGGCATCAGAACACCAGGTCATGGATCTCCACCAGCAAGATGGGAGAGCCCGTGGCCAGTGCACACACGGCCAA
GATCCTCTCCTGGGATGAATTCAGAACATTCTGGATCAGCTGGCGTGGTGGCCTTATCCAGGTTGGCCATGGTCCAGAGCCATCCAATGAGTCTGTCATT
GTGGCCTGGACCCTCCCGAGGCCACCAGAGGTCCAGTTCATTGGCTTTTCCACCGGCTGGGGCTCCATGGGTGAATTCCRAATCTGGAGGAAGATGGAGG
TGGACGAGAGCTACAGCGAGGCCTTCACCCTGGGGGTCCCACACGGCGCCATCCCTGGGTCTGAGCGAGCCACCGCCTCCATCATCGGGGACGTCATGGG
GCCAACCCTGAACCACCTCAACAACCTCCTGCGGCTGCCGTTTGGCTGTGGAGAGCAGAACATGATCCACTTTGCACCCAACRTCTTTGTCTTGAAGTAT
CTTCAGAAAACCCAGCAGCTCAGCCCTGAGGTGGAGAGAGAGACCACCGACTACCTAGTACAAGGCTACCAGCGCCAGCTGACCTACAAGCGCCAGGATG
GCTCCTACAGCGCGTTTGGGGAGCGGGACGCATCGGGGAGCATGTGGCTCACAGCCTTTGTCCTGAAGTCCTTCGCACAGGCTCGCAGCTTTATCTTCGT
GGACCCCCGGGAGCTGGCTGCCGCCAAGAGCTGGATCATCCAGCAGCAGCAGGCCGATGGCTCCTTCCTGGCCGTGGGCAGGGTCCTGAACAAGGACATC
CAGGGTGGGATCCACGGCAYTGTCCCGCTGACAGCCTACGTGGTGGTTGCTCTCCTGGAAACAGGCACAGCCTCAGAGGAGGAGAGAGGCTCCACTGACA
AAGCGAGGCACTTCCTGGAGTCTGCTGCGCCCCTGGCCATGGACCCTTATAGCTGTGCCCTGACTACCTACGCGCTGACCCTGCTCCGCAGCCCGGCAGC
CCCTGAGGCACTGCGCAAGCTCCGTAGCCTGGCCATCATGCGAGATGGGGTCACCCACTGGAGCCTGTCAAATTCCTGGGACGTGGACAAGGGCACATTC
TTGAGCTTCAGTGACAGGGTCTCTCAGTCAGTGGTCTCGGCCGAGGTGGAAATGACAGCCTACGCCCTTCTGACCTACACTCTGCTGGGTGACGTGGCTG
CCGCCCTGCCTGTGGTGAAGTGGCTGTCCCAGCAGCGAAATGCACTTGGGGGCTTCTCCTCCACTCAGGACACCTGCGTGGCTCTGCAGGCCTTGGCTGA
ATATGCCATCTTGTCCTATGCTGGAGGCATCAACCTCACTGTCTCCCTGGCCTCCACCAACCTGGACTACCAGGAAACCTTCGAGCTGCACAGGACCAAC
CAGAAGGTTCTGCAGACAGCAGCGATCCCCAGCCTCCCCACGGGGCTGTTTGTGAGTGCCAAGGGGGACGGCTGCTGCCTGATGCAGATTGATGTCACCT
ACAATGTGCCTGACCCGGTGGCCAAGCCAGCTTTCCAGCTGCTCGTAAGCCTCCAGGAGCCTGAGGCCCAGGGACGCCCGCCCCCCATGCCTGCCTCCGC
AGCTGAGGGTTCCCGAGGAGACTGGCCCCCAGCTGACGATGATGACCCAGCGGCCGATCAGCATCACCAGGAATACAAGGTGATGCTGGAGGTGTGCACC
AGGTGGCTGCATGCAGGGTCTTCCAATATGGCTGTCCTGGAGGTGCCCCTGCTGTCAGGCTTCCGGGCAGACATCGAGAGCCTGGAGCAGCTGCTCCTTG
ACAAGCACATGGGGATGAAGAGGTATGAAGTGGCTGGACGCCGAGTGCTCTTCTACTTTGATGAGATCCCCAGCCGGTGCCTGACGTGCGTGCGGTTCCG
TGCTCTCCGGGAGTGCGTGGTGGGCAGGACGTCGGCGCTGCCAGTCTCCGTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTC
AGCACSCACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGT
CGGGCCCTGCCGTGGCCCCTGAGGAGGGGGCGGCGATCGCGCGATGCGGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGG
GGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCMRGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGG
CTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTGGCCCCGGGGCCTTTACAGCAGGACGTGAAGCTGAATGGAGCCGGCCTTGAGG
TGGAGGACTCAGACCCTGAGCCTGAAGGGGAGGCGGAGGACAGGGTCACAGCCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCA
GAGCGCCAGCCCGTTCCACAGATGGGGCCAGACTCCGGCCCCTCRGAGACATAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTC
TTCGTCTACAGCCCAGCCTTTCAGAGTGGTGGGGAGGAGGGTTTATGGATGTCAAACACCTGCACCTTGAGATAATCCTACAACCACATGCAGTTGTGGG
ACCGCAGTTTGGTCCTGGGGACCATTCATACCCACACACCCAGCTTGTGCCTGTGGTTAACATCTCAGAAAACTCTGGTAAATGATCACTCCAGGATATT
GACAMGAATACACGTTACTGATCTTACTCACATGTT

Protein Sequence    (SEQ ID NO:1275):
MSGALLWPLLPLLLLLLSARDGVRAAQPQAPGYLIAAPSVFRAGVEEVISVTIFNSPREVTVQAQLVAQGEPVVQSQGAILDKGTIKLKVPTGLRGQALL
KVWGRGWQAEEGPLFHNQTSVTVDGRGASVFIQTDKPVYRPQHRVLISIFTVSPNLRPVNEKLEAYILDPRGSRMIEWRHLKPFCCGITNMSFPLSDQPV
LGEWFIFVEMQGHAYNKSFEVQKYVLPKFELLIDPPRYIQDLDACETGTVRARYTFGKPVAGALTINMTVNGVGYYSHEVGRPVLRTTKILGSRDFDICV
RDMIPADVPEHFRGRVSIWAIVTSVDGSQQVAFDDSTPVQRQLVDIRYSKDTRKQFKPGLAYVGKVELSYPDGSPAEGVTVQIKAELTPKDNIYTSEVVS
QRGLVGFEIPSIPTSAQHVWLETKVMALNGKPVGAQYLPSYLSLGSWYSPSQCYLQLQPPSHPLQVGEEAYFSVKSTCPCNFTLYYEVAARGNIVLSGQQ
PAHTTQQRSKRAAPALEKPIRLTHLSETEPPPAPEAEVDVCVTSLHLAVTPSMVPLGRLLVFYVRENGEGVADSLQFAVETFFENQVSVTYSANETQPGE
VVDLRIRAARGSCVCVAAVDKSVYLLRSGFRLTPAQVFQELEDYDVSDSFGVSREDGPFWWAGLTAQRRRRSSVFPWPWGITKDSGFAFTETGLVVMTDR
VSLNHRQDGGLYTDEAVPAFQPHTGSLVAVAPSRHPPRTEKRKRTFFPETWIWHCLNISDPSGEGTLSVKVPDSITSWVGEAVALSTSQGLGIAEPSLLK
TFKPFFVDFMLPALIIRGEQVKIPLSVYNYMGTCAEVYMKLSVPKGIQFVGHPGKRHVTKKMCVAPGEAEPIWVVLSFSDLGLNNITAKALAYGDTNCCR
DGRSSKHPEENHADRRVPIGVDHVRRSVMVEAEGVPRAYTYSAFFCPSERVHISTPNKYEFQYVQRPLRLTRFDVAVRAHNDARVALSSGPQDTAGMIEI
VLGGHQNTRSWISTSKMGEPVASAHTAKILSWDEFRTFWISWRGGLIQVGHGPEPSNESVIVAWTLPRPPEVQFIGFSTGWGSMGEFRIWRKMEVDESYS
EAFTLGVPHGAIPGSERATASIIGDVMGPTLNHLNNLLRLPFGCGEQNMIHFAPNVFVLKYLQKTQQLSPEVERETTDYLVQGYQRQLTYKRQDGSYSAF
GERDASGSMWLTAFVLKSFAQARSFIFVDPRELAAAKSWIIQQQQADGSFLAVGRVLNKDIQGGIHGTVPLTAYVVVALLETGTASEEERGSTDKARHFL
ESAAPLAMDPYSCALTTYALTLLRSPAAPEALRKLRSLAIMRDGVTHWSLSNSWDVDKGTFLSFSDRVSQSVVSAEVEMTAYALLTYTLLGDVAAALPVV
KWLSQQRNALGGFSSTQDTCVALQALAEYAILSYAGGINLTVSLASTNLDYQETFELHRTNQKVLQTAAIPSLPTGLFVSAKGDGCCLMQIDVTYNVPDP
VAKPAFQLLVSLQEPEAQGRPPPMPASAAEGSRGDWPPADDDDPAADQHHQEYKVMLEVCTRWLHAGSSNMAVLEVPLLSGFRADIESLEQLLLDKHMGM
KRYEVAGRRVLFYFDEIPSRCLTCVRFRALRECVVGRTSALPVSVYDYYEPAFEATRFYNVSTHSPLARELCAGPACNEVERAPARGPGWFPGESGPAVA
PEEGAAIARCGCDHDCGAQGNPVCGSDGVVYASACRLREAACRQAAPLEPAPPSCCALEQRLPASSSSTYGDDLASVAPGPLQQDVKLNGAGLEVEDSDP
EPEGEAEDRVTAGPRPPVSSGNLESSTQSASPFHRWGQTPAPQRHSGRVVGAHRPGLLSPVFVYSPAFQSGGEEGLWMSNTCTLR


SNP Information

Context             (SEQ ID NO:10180):
AAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGT
R
GGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGG
Celera SNP ID:            hCV25968872
SNP Position Transcript:  836
SNP Source:               Applera
Population(Allele,Count): african american(A,20)   caucasian(A,23|G,3)   total(A,43|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 273, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:10181):
CTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGTGGCAGTGGCTCCTTCCAGGCACC
M
CCCCAGAACAGAGAAGAGAAAAAGGACTTTCTTCCCCGAAACATGGATTTGGCATTGTCTCAACATCAGTGACCCATCTGGTGAGGGGACACTCAGTGTG
Celera SNP ID:            hCV25966331
SNP Position Transcript:  2224
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,16)   caucasian(C,38)   total(A,12|C,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 736, (H,CAC)   (P,CCC)   



Context             (SEQ ID NO:10182):
AGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACACCACCCAGCAGCG
M
AGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTG
Celera SNP ID:            hCV1655860
SNP Position Transcript:  1541
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,15)   caucasian(A,27|C,13)   total(A,44|C,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 508, (R,CGA)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,5)      total(A,5|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 508, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:10183):
CCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCAT
R
GTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGC
Celera SNP ID:            hCV25968336
SNP Position Transcript:  980
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,21)   caucasian(A,3|G,25)   total(A,12|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 321, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:10184):
CAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATA
R
TGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCA
Celera SNP ID:            hCV25968338
SNP Position Transcript:  981
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,7|G,29)   total(A,7|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 322, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:10185):
GTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGAC
R
TCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAG
Celera SNP ID:            hCV25968265
SNP Position Transcript:  939
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,6|G,28)   total(A,6|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 308, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10186):
TAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGC
R
GACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGC
Celera SNP ID:            hCV25968249
SNP Position Transcript:  935
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,7|G,29)   total(A,11|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 306, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10187):
CCACGGGCCTCCGGGGCCAAGCGCTTCTGAAAGTGTGGGGCCGCGGCTGGCAGGCGGAGGAGGGGCCCCTCTTTCACAACCAGACCTCGGTGACCGTGGA
Y
GGCCGGGGCGCTTCTGTATTCATCCAGACGGACAAGCCTGTGTACAGACCCCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGC
Celera SNP ID:            hCV25973759
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,8)   caucasian(C,15|T,1)   total(C,33|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 124, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:10188):
ACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGCGGAAGGAGTCCCCCGGGCGTACAC
S
TACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGCGGCCACTGCGCCTCACCCGCTTTG
Celera SNP ID:            hCV25961169
SNP Position Transcript:  2837
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,7)   caucasian(C,40)   total(C,69|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 940, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:10189):
GGCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCC
Y
GGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGG
Celera SNP ID:            hCV25967752
SNP Position Transcript:  897
SNP Source:               Applera
Population(Allele,Count): african american(C,28)   caucasian(C,24|T,6)   total(C,52|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 294, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:10190):
GCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCA
R
GCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTGG
Celera SNP ID:            hCV15894787
SNP Position Transcript:  5249
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 1744, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:10191):
CCGACCAGCCTGTGTTGGGAGAATGGTTCATTTTTGTTGAAATGCAAGGCCACGCGTACAACAAGTCTTTTGAAGTTCAGAAGTATGTGTTGCCCAAGTT
Y
GAGCTTCTGATTGACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTG
Celera SNP ID:            hCV25956050
SNP Position Transcript:  704
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,10)   caucasian(C,1|T,9)   total(C,3|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 229, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,102|T,1391)   total(C,102|T,1391) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 229, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:10192):
CCCCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGCCTGTCAACGAGAAGCTGGAAGCCTACATCCTGGACCCCCGAGGCTCTC
R
GATGATAGAGTGGAGACACTTAAAGCCGTTCTGCTGCGGCATCACCAACATGAGCTTCCCCTTGTCCGACCAGCCTGTGTTGGGAGAATGGTTCATTTTT
Celera SNP ID:            hCV25969462
SNP Position Transcript:  538
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 174, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:10193):
CTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTC
R
ACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCA
Celera SNP ID:            hCV25967772
SNP Position Transcript:  906
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,34)   total(A,2|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 297, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10194):
GTCACAGCCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCAGAGCGCCAGCCCGTTCCACAGATGGGGCCAGACTCCGGCCCCTC
R
GAGACATAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTCTTCGTCTACAGCCCAGCCTTTCAGAGTGGTGGGGAGGAGGGTTTA
Celera SNP ID:            hCV3065941
SNP Position Transcript:  5545
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,11)      total(G,3|A,11) ;PGA-AFRIGAN-PANEL(G,5|A,41)   PGA-EUR(EAN-PANEL(G,15|A,31)   total(G,20|A,72)   no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1843, (Q,CAG)   (R,CGG)      1843, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:10195):
CAGTTTGGTCCTGGGGACCATTCATACCCACACACCCAGCTTGTGCCTGTGGTTAACATCTCAGAAAACTCTGGTAAATGATCACTCCAGGATATTGACA
M
GAATACACGTTACTGATCTTACTCACATGTT
Celera SNP ID:            hCV3065942
SNP Position Transcript:  5805
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,6)      total(A,6|C,3) ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1275, None   



Context             (SEQ ID NO:10196):
GCCGCCAAGAGCTGGATCATCCAGCAGCAGCAGGCCGATGGCTCCTTCCTGGCCGTGGGCAGGGTCCTGAACAAGGACATCCAGGGTGGGATCCACGGCA
Y
TGTCCCGCTGACAGCCTACGTGGTGGTTGCTCTCCTGGAAACAGGCACAGCCTCAGAGGAGGAGAGAGGCTCCACTGACAAAGCGAGGCACTTCCTGGAG
Celera SNP ID:            hCV3065928
SNP Position Transcript:  3820
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,25)   caucasian(C,18|T,18)   total(C,25|T,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1268, (T,ACT)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1268, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:10197):
CACAACGACGCCGGCGCTCCTCTGTCTTCCCGTGGCCTTGGGGCATCACCAAGGACTCTGGGTTTGCCTTCACCGAAACGGGACTGGTGGTGATGACCGA
M
CGAGTGAGCCTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGTGGCAGTGGCTCCTT
Celera SNP ID:            hCV25965701
SNP Position Transcript:  2114
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,27)   caucasian(C,40)   total(A,1|C,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 699, (E,GAA)   (D,GAC)   



Context             (SEQ ID NO:10198):
TCCGGGAGTGCGTGGTGGGCAGGACGTCGGCGCTGCCAGTCTCCGTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTCAGCAC
S
CACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGTCGGGCC
Celera SNP ID:            hCV15905376
SNP Position Transcript:  5006
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,10)   caucasian(C,17|G,15)   total(C,19|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 1663, (T,ACC)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 1663, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:10199):
CCATCCAATGAGTCTGTCATTGTGGCCTGGACCCTCCCGAGGCCACCAGAGGTCCAGTTCATTGGCTTTTCCACCGGCTGGGGCTCCATGGGTGAATTCC
R
AATCTGGAGGAAGATGGAGGTGGACGAGAGCTACAGCGAGGCCTTCACCCTGGGGGTCCCACACGGCGCCATCCCTGGGTCTGAGCGAGCCACCGCCTCC
Celera SNP ID:            hCV25961767
SNP Position Transcript:  3280
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1088, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:10200):
CTGATTGACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTGCCTTAA
Y
GATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATC
Celera SNP ID:            hCV11699072
SNP Position Transcript:  811
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,4)   caucasian(C,34|T,2)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 265, (T,ACG)   (M,ATG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,10)   total(C,10|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 265, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10201):
GGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGCGGAAGGAGT
Y
CCCCGGGCGTACACCTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGCGGCCACTGC
Celera SNP ID:            hCV25961205
SNP Position Transcript:  2822
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 935, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:10202):
TGTCCCAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACTGAACGGGAAGCC
Y
GTGGGGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCCCACCCACTGCAGG
Celera SNP ID:            hCV11699090
SNP Position Transcript:  1313
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,6)   caucasian(C,22|T,14)   total(C,48|T,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 432, (P,CCC)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 432, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10203):
TCCCAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACTGAACGGGAAGCCCG
W
GGGGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCCCACCCACTGCAGGTT
Celera SNP ID:            hCV25964831
SNP Position Transcript:  1315
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(A,1|T,37)   total(A,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 433, (E,GAG)   (V,GTG)   



Context             (SEQ ID NO:10204):
GCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTGTGACCTCTCTTC
R
TCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTCTTCTACGTCAGGGAGAATGGAGAAGGGGTCGCCGACAGCCTTCAGTTTGCAGTC
Celera SNP ID:            hCV1655870
SNP Position Transcript:  1654
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,24)   caucasian(A,22|G,12)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 546, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,6)      total(G,4|A,6) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 546, (H,CAT)   (R,CGT)      546, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:10205):
CCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACACCACCCAGCAGCGAAGCAAGCGGGC
R
GCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTGTGACCTCTCTTC
Celera SNP ID:            hCV25956745
SNP Position Transcript:  1553
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 512, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10206):
GCCGGGATGGGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGC
R
GAAGGAGTCCCCCGGGCGTACACCTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGC
Celera SNP ID:            hCV25961228
SNP Position Transcript:  2813
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1275, 932, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10207):
TATTTTTCTGTGAAGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACA
Y
CACCCAGCAGCGAAGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAG
Celera SNP ID:            hCV25956694
SNP Position Transcript:  1528
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 504, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:10208):
CTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAGATCCCGCTCAGTGTCTACAACTACATGGGCACCTGC
R
CTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACGCCATGTGACCAAGAAGATGTGTGTGGCCCCCGGGGA
Celera SNP ID:            hCV25964221
SNP Position Transcript:  2520
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,34)   total(A,2|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 835, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:10209):
CATCGGGGACGTCATGGGGCCAACCCTGAACCACCTCAACAACCTCCTGCGGCTGCCGTTTGGCTGTGGAGAGCAGAACATGATCCACTTTGCACCCAAC
R
TCTTTGTCTTGAAGTATCTTCAGAAAACCCAGCAGCTCAGCCCTGAGGTGGAGAGAGAGACCACCGACTACCTAGTACAAGGCTACCAGCGCCAGCTGAC
Celera SNP ID:            hCV15905341
SNP Position Transcript:  3483
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,28)   caucasian(G,36)   total(A,6|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1156, (I,ATC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,12)      total(G,12|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1156, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10210):
CTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTC
R
CGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCAGTTCAAGCCGGGCCTGGCCTACGTGGGGAA
Celera SNP ID:            hCV25968388
SNP Position Transcript:  1011
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,3|G,33)   total(A,4|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 332, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:10211):
GGGCTTAGGCATCGCCGAGCCCTCCCTGCTGAAGACCTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAG
R
TCCCGCTCAGTGTCTACAACTACATGGGCACCTGCGCTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACG
Celera SNP ID:            hCV25964316
SNP Position Transcript:  2484
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,36)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 823, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10212):
AGCAGCGAAGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGA
M
GTGTGTGTGACCTCTCTTCATCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTCTTCTACGTCAGGGAGAATGGAGAAGGGGTCGCCG
Celera SNP ID:            hCV25972158
SNP Position Transcript:  1634
SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,17)   caucasian(A,11|C,23)   total(A,24|C,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 539, (E,GAA)   (D,GAC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 539, (E,GAA)   (D,GAC)      539, (D,GAC)   (E,GAA)      



Context             (SEQ ID NO:10213):
GCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCC
R
GGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGG
Celera SNP ID:            hCV25967767
SNP Position Transcript:  898
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,26)   caucasian(A,14|G,20)   total(A,20|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 294, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,739|A,758)   total(G,739|A,758) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 294, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10214):
GGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCC
M
GGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTG
Celera SNP ID:            hCV26209746
SNP Position Transcript:  5248
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1275, 1744, (Q,CAG)   (P,CCG)      



Gene Number:                 224
Celera Gene:                 hCG37668 - 206000045734829
Celera Transcript:           hCT28902 - 206000045734831
Public Transcript Accession: NM_003950
Celera Protein:              hCP47617 - 206000045734850
Public Protein Accession:    NP_003941
Gene Symbol:                 VIP
Protein Name:                alpha-2 macroglobulin family protein VIP;KIAA1283
Celera Genomic Axis:         GA_x5YUV32W1A1(8121534..8255206)
Chromosome:                  Chr19
OMIM number:                 192320
OMIM Information:            VASOACTIVE INTESTINAL PEPTIDE;VIP


Transcript Sequence (SEQ ID NO:579):
GAGCGGCGCCCTGCTCTGGCCGTTGCTCCCGCTCCTGCTCCTGCTGCTGTCGGCGCGGGACGGCGTGCGCGCCGCGCAGCCTCAGGCCCCGGGTTACTTG
ATTGCAGCTCCCTCTGTTTTTCGCGCGGGCGTGGAGGAAGTCATCAGCGTGACCATCTTTAACTCTCCAAGGGAAGTCACGGTCCAGGCTCAGCTGGTGG
CCCAGGGTGAGCCGGTGGTGCAGAGCCAGGGAGCCATCCTGGATAAAGGGACAATCAAACTCAAGGTGCCCACGGGCCTCCGGGGCCAAGCGCTTCTGAA
AGTGTGGGGCCGCGGCTGGCAGGCGGAGGAGGGGCCCCTCTTTCACAACCAGACCTCGGTGACCGTGGAYGGCCGGGGCGCTTCTGTATTCATCCAGACG
GACAAGCCTGTGTACAGACCCCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGCCTGTCAACGAGAAGGTGAGATCAGCCACCA
ACAGGACCCCCGAGGCTCTCRGATGATAGAGTGGAGACACTTAAAGCCGTTCTGCTGCGGCATCACCAACATGAGCTTCCCCTTGTCCGACCAGCCTGTG
TTGGGAGAATGGTTCATTTTTGTTGAAATGCAAGGCCACGCGTACAACAAGTCTTTTGAAGTTCAGAAGTATGTGTTGCCCAAGTTYGAGCTTCTGATTG
ACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTGCCTTAAYGATCAA
CATGACTGTTAATGGTGTRGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCYRGGACTTCRACATCTGCGTG
AGGGACATGATCCCAGCRGACRTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATRRTGACCAGTGTGGACGGGAGCCAGCAGGTCRCGTTCG
ATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCAGTTCAAGCCGGGCCTGGCCTACGTGGGGAAGGTGGA
GCTATCCTACCCCGATGGCAGCCCAGCTGAGGGGGTGACGGTCCAGATTAAGGCAGAGCTGACACCAAAGGATAACATCTACACCAGTGAAGTTGTGTCC
CAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACTGAACGGGAAGCCYGWGG
GGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCCCACCCACTGCAGGTTGG
GGAAGAAGCCTATTTTTCTGTGAAGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAG
CCTGCCCACAYCACCCAGCAGCGMAGCAAGCGGGCRGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCC
CAGAAGCTGAGGTCGAMGTGTGTGTGACCTCTCTTCRTCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTCTTCTACGTCAGGGAGAA
TGGAGAAGGGGTCGCCGACAGCCTTCAGTTTGCAGTCGAGACCTTCTTCGAAAACCAGGTTTCAGTGACGTATTCAGCAAATGAGACCCAACCTGGGGAG
GTTGTCGACCTGCGGATCAGGGCTGCAAGGGGCAGCTGTGTGTGCGTCGCCGCAGTTGATAAGAGTGTCTACCTGCTCAGGTCTGGGTTCCGGCTGACTC
CTGCCCAGGTTTTCCAGGAACTGGAAGATTATGATGTTTCTGATTCCTTTGGCGTGTCCAGGGAGGATGGTCCTTTTTGGTGGGCTGGGCTGACGGCACA
ACGACGCCGGCGCTCCTCTGTCTTCCCGTGGCCTTGGGGCATCACCAAGGACTCTGGGTTTGCCTTCACCGAAACGGGACTGGTGGTGATGACCGAMCGA
GTGAGCCTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGTGGCAGTGGCTCCTTCCA
GGCACCMCCCCAGAACAGAGAAGAGAAAAAGGACTTTCTTCCCCGAAACATGGATTTGGCATTGTCTCAACATCAGTGACCCATCTGGTGAGGGGACACT
CAGTGTGAAGGTCCCGGACTCCATCACCAGCTGGGTGGGTGAGGCCGTGGCCCTGTCCACCTCTCAGGGCTTAGGCATCGCCGAGCCCTCCCTGCTGAAG
ACCTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAGRTCCCGCTCAGTGTCTACAACTACATGGGCACCT
GCRCTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACGCCATGTGACCAAGAAGATGTGTGTGGCCCCCGG
GGAGGCTGAGCCCATCTGGGTCGTTCTGTCCTTCAGCGACCTGGGACTCAACAACATCACGGCCAAAGCCCTTGCTTACGGAGACACAAATTGCTGCCGG
GATGGGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGCRGAAG
GAGTYCCCCGGGCGTACACSTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGCGGCC
ACTGCGCCTCACCCGCTTTGATGTGGCTGTGCGAGCTCACAATGATGCCCGTGTGGCCTTGTCTTCTGGGCCCCAGGACACAGCAGGCATGATCGAGATC
GTCCTGGGGGGGCATCAGAACACCAGGTCATGGATCTCCACCAGCAAGATGGGAGAGCCCGTGGCCAGTGCACACACGGCCAAGATCCTCTCCTGGGATG
AATTCAGAACATTCTGGATCAGCTGGCGTGGTGGCCTTATCCAGGTTGGCCATGGTCCAGAGCCATCCAATGAGTCTGTCATTGTGGCCTGGACCCTCCC
GAGGCCACCAGAGGTCCAGTTCATTGGCTTTTCCACCGGCTGGGGCTCCATGGGTGAATTCCRAATCTGGAGGAAGATGGAGGTGGACGAGAGCTACAGC
GAGGCCTTCACCCTGGGGGTCCCACACGGCGCCATCCCTGGGTCTGAGCGAGCCACCGCCTCCATCATCGGGGACGTCATGGGGCCAACCCTGAACCACC
TCAACAACCTCCTGCGGCTGCCGTTTGGCTGTGGAGAGCAGAACATGATCCACTTTGCACCCAACRTCTTTGTCTTGAAGTATCTTCAGAAAACCCAGCA
GCTCAGCCCTGAGGTGGAGAGAGAGACCACCGACTACCTAGTACAAGGCTACCAGCGCCAGCTGACCTACAAGCGCCAGGATGGCTCCTACAGCGCGTTT
GGGGAGCGGGACGCATCGGGGAGCATGTGGCTCACAGCCTTTGTCCTGAAGTCCTTCGCACAGGCTCGCAGCTTTATCTTCGTGGACCCCCGGGAGCTGG
CTGCCGCCAAGAGCTGGATCATCCAGCAGCAGCAGGCCGATGGCTCCTTCCTGGCCGTGGGCAGGGTCCTGAACAAGGACATCCAGGGTGGGATCCACGG
CAYTGTCCCGCTGACAGCCTACGTGGTGGTTGCTCTCCTGGAAACAGGCACAGCCTCAGAGGAGGAGAGAGGCTCCACTGACAAAGCGAGGCACTTCCTG
GAGTCTGCTGCGCCCCTGGCCATGGACCCTTATAGCTGTGCCCTGACTACCTACGCGCTGACCCTGCTCCGCAGCCCGGCAGCCCCTGAGGCACTGCGCA
AGCTCCGTAGCCTGGCCATCATGCGAGATGGGGTCACCCACTGGAGCCTGTCAAATTCCTGGGACGTGGACAAGGGCACATTCTTGAGCTTCAGTGACAG
GGTCTCTCAGTCAGTGGTCTCGGCCGAGGTGGAAATGACAGCCTACGCCCTTCTGACCTACACTCTGCTGGGTGACGTGGCTGCCGCCCTGCCTGTGGTG
AAGTGGCTGTCCCAGCAGCGAAATGCACTTGGGGGCTTCTCCTCCACTCAGGACACCTGCGTGGCTCTGCAGGCCTTGGCTGAATATGCCATCTTGTCCT
ATGCTGGAGGCATCAACCTCACTGTCTCCCTGGCCTCCACCAACCTGGACTACCAGGAAACCTTCGAGCTGCACAGGACCAACCAGAAGGTTCTGCAGAC
AGCAGCGATCCCCAGCCTCCCCACGGGGCTGTTTGTGAGTGCCAAGGGGGACGGCTGCTGCCTGATGCAGATTGATGTCACCTACAATGTGCCTGACCCG
GTGGCCAAGCCAGCTTTCCAGCTGCTCGTAAGCCTCCAGGAGCCTGAGGCCCAGGGACGCCCGCCCCCCATGCCTGCCTCCGCAGCTGAGGGTTCCCGAG
GAGACTGGCCCCCAGCTGACGATGATGACCCAGCGGCCGATCAGCATCACCAGGAATACAAGGTGATGCTGGAGGTGTGCACCAGGTGGCTGCATGCAGG
GTCTTCCAATATGGCTGTCCTGGAGGTGCCCCTGCTGTCAGGCTTCCGGGCAGACATCGAGAGCCTGGAGCAGCTGCTCCTTGACAAGCACATGGGGATG
AAGAGGTATGAAGTGGCTGGACGCCGAGTGCTCTTCTACTTTGATGAGATCCCCAGCCGGTGCCTGACGTGCGTGCGGTTCCGTGCTCTCCGGGAGTGCG
TGGTGGGCAGGACGTCGGCGCTGCCAGTCTCCGTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTCAGCACSCACAGCCCACT
CGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGTCGGGCCCTGCCGTGGCC
CCTGAGGAGGGGGCGGCGATCGCGCGATGCGGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCG
CCTGCCGCCTGCGGGAGGCCGCCTGCCGCCMRGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTC
CTCCACCTACGGGGATGACCTGGCTTCTGTGGCCCCGGGGCCTTTACAGCAGGACGTGAAGCTGAATGGAGCCGGCCTTGAGGTGGAGGACTCAGACCCT
GAGCCTGAAGGGGAGGCGGAGGACAGGGTCACAGCCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCAGAGCGCCAGCCCGTTCC
ACAGATGGGGCCAGACTCCGGCCCCTCRGAGACATAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTCTTCGTCTACAGCCCAGC
CTTTCAGAGTGGTGGGGAGGAGGGTTTATGGATGTCAAACACCTGCACCTTGAGATAATCCTACAACCACATGCAGTTGTGGGACCGCAGTTTGGTCCTG
GGGACCATTCATACCCACACACCCAGCTTGTGCCTGTGGTTAACATCTCAGAAAACTCTGGTAAATGATCACTCCAGGATATTGACAMGAATACACGTTA
CTGATCTTACTCACATGTT

Protein Sequence    (SEQ ID NO:1276):
MIEWRHLKPFCCGITNMSFPLSDQPVLGEWFIFVEMQGHAYNKSFEVQKYVLPKFELLIDPPRYIQDLDACETGTVRARYTFGKPVAGALTINMTVNGVG
YYSHEVGRPVLRTTKILGSRDFDICVRDMIPADVPEHFRGRVSIWAIVTSVDGSQQVAFDDSTPVQRQLVDIRYSKDTRKQFKPGLAYVGKVELSYPDGS
PAEGVTVQIKAELTPKDNIYTSEVVSQRGLVGFEIPSIPTSAQHVWLETKVMALNGKPVGAQYLPSYLSLGSWYSPSQCYLQLQPPSHPLQVGEEAYFSV
KSTCPCNFTLYYEVAARGNIVLSGQQPAHTTQQRSKRAAPALEKPIRLTHLSETEPPPAPEAEVDVCVTSLHLAVTPSMVPLGRLLVFYVRENGEGVADS
LQFAVETFFENQVSVTYSANETQPGEVVDLRIRAARGSCVCVAAVDKSVYLLRSGFRLTPAQVFQELEDYDVSDSFGVSREDGPFWWAGLTAQRRRRSSV
FPWPWGITKDSGFAFTETGLVVMTDRVSLNHRQDGGLYTDEAVPAFQPHTGSLVAVAPSRHPPRTEKRKRTFFPETWIWHCLNISDPSGEGTLSVKVPDS
ITSWVGEAVALSTSQGLGIAEPSLLKTFKPFFVDFMLPALIIRGEQVKIPLSVYNYMGTCAEVYMKLSVPKGIQFVGHPGKRHVTKKMCVAPGEAEPIWV
VLSFSDLGLNNITAKALAYGDTNCCRDGRSSKHPEENHADRRVPIGVDHVRRSVMVEAEGVPRAYTYSAFFCPSERVHISTPNKYEFQYVQRPLRLTRFD
VAVRAHNDARVALSSGPQDTAGMIEIVLGGHQNTRSWISTSKMGEPVASAHTAKILSWDEFRTFWISWRGGLIQVGHGPEPSNESVIVAWTLPRPPEVQF
IGFSTGWGSMGEFRIWRKMEVDESYSEAFTLGVPHGAIPGSERATASIIGDVMGPTLNHLNNLLRLPFGCGEQNMIHFAPNVFVLKYLQKTQQLSPEVER
ETTDYLVQGYQRQLTYKRQDGSYSAFGERDASGSMWLTAFVLKSFAQARSFIFVDPRELAAAKSWIIQQQQADGSFLAVGRVLNKDIQGGIHGTVPLTAY
VVVALLETGTASEEERGSTDKARHFLESAAPLAMDPYSCALTTYALTLLRSPAAPEALRKLRSLAIMRDGVTHWSLSNSWDVDKGTFLSFSDRVSQSVVS
AEVEMTAYALLTYTLLGDVAAALPVVKWLSQQRNALGGFSSTQDTCVALQALAEYAILSYAGGINLTVSLASTNLDYQETFELHRTNQKVLQTAAIPSLP
TGLFVSAKGDGCCLMQIDVTYNVPDPVAKPAFQLLVSLQEPEAQGRPPPMPASAAEGSRGDWPPADDDDPAADQHHQEYKVMLEVCTRWLHAGSSNMAVL
EVPLLSGFRADIESLEQLLLDKHMGMKRYEVAGRRVLFYFDEIPSRCLTCVRFRALRECVVGRTSALPVSVYDYYEPAFEATRFYNVSTHSPLARELCAG
PACNEVERAPARGPGWFPGESGPAVAPEEGAAIARCGCDHDCGAQGNPVCGSDGVVYASACRLREAACRQAAPLEPAPPSCCALEQRLPASSSSTYGDDL
ASVAPGPLQQDVKLNGAGLEVEDSDPEPEGEAEDRVTAGPRPPVSSGNLESSTQSASPFHRWGQTPAPQRHSGRVVGAHRPGLLSPVFVYSPAFQSGGEE
GLWMSNTCTLR


SNP Information

Context             (SEQ ID NO:10215):
AAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGT
R
GGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGG
Celera SNP ID:            hCV25968872
SNP Position Transcript:  819
SNP Source:               Applera
Population(Allele,Count): african american(A,20)   caucasian(A,23|G,3)   total(A,43|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 99, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:10216):
CTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGTGGCAGTGGCTCCTTCCAGGCACC
M
CCCCAGAACAGAGAAGAGAAAAAGGACTTTCTTCCCCGAAACATGGATTTGGCATTGTCTCAACATCAGTGACCCATCTGGTGAGGGGACACTCAGTGTG
Celera SNP ID:            hCV25966331
SNP Position Transcript:  2207
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,16)   caucasian(C,38)   total(A,12|C,54)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 562, (H,CAC)   (P,CCC)   



Context             (SEQ ID NO:10217):
AGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACACCACCCAGCAGCG
M
AGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTG
Celera SNP ID:            hCV1655860
SNP Position Transcript:  1524
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,15)   caucasian(A,27|C,13)   total(A,44|C,28)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 334, (R,CGA)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|A,5)      total(A,5|C,1) ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 334, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:10218):
CCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCAT
R
GTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGC
Celera SNP ID:            hCV25968336
SNP Position Transcript:  963
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,21)   caucasian(A,3|G,25)   total(A,12|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 147, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:10219):
CAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATA
R
TGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCA
Celera SNP ID:            hCV25968338
SNP Position Transcript:  964
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,7|G,29)   total(A,7|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 148, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:10220):
GTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGAC
R
TCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGCAGAG
Celera SNP ID:            hCV25968265
SNP Position Transcript:  922
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,6|G,28)   total(A,6|G,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 134, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10221):
TAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATCTGCGTGAGGGACATGATCCCAGC
R
GACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTCGCGTTCGATGACTCCACCCCCGTGC
Celera SNP ID:            hCV25968249
SNP Position Transcript:  918
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,7|G,29)   total(A,11|G,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 132, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10222):
CCACGGGCCTCCGGGGCCAAGCGCTTCTGAAAGTGTGGGGCCGCGGCTGGCAGGCGGAGGAGGGGCCCCTCTTTCACAACCAGACCTCGGTGACCGTGGA
Y
GGCCGGGGCGCTTCTGTATTCATCCAGACGGACAAGCCTGTGTACAGACCCCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGC
Celera SNP ID:            hCV25973759
SNP Position Transcript:  370
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,8)   caucasian(C,15|T,1)   total(C,33|T,9)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1276, None



Context             (SEQ ID NO:10223):
ACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGCGGAAGGAGTCCCCCGGGCGTACAC
S
TACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGCGGCCACTGCGCCTCACCCGCTTTG
Celera SNP ID:            hCV25961169
SNP Position Transcript:  2820
SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,7)   caucasian(C,40)   total(C,69|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 766, (T,ACC)   (T,ACG)   



Context             (SEQ ID NO:10224):
GGCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCC
Y
GGGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGG
Celera SNP ID:            hCV25967752
SNP Position Transcript:  880
SNP Source:               Applera
Population(Allele,Count): african american(C,28)   caucasian(C,24|T,6)   total(C,52|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 120, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:10225):
GCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCA
R
GCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTGG
Celera SNP ID:            hCV15894787
SNP Position Transcript:  5232
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 1570, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:10226):
CCGACCAGCCTGTGTTGGGAGAATGGTTCATTTTTGTTGAAATGCAAGGCCACGCGTACAACAAGTCTTTTGAAGTTCAGAAGTATGTGTTGCCCAAGTT
Y
GAGCTTCTGATTGACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTG
Celera SNP ID:            hCV25956050
SNP Position Transcript:  687
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,10)   caucasian(C,1|T,9)   total(C,3|T,19)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 55, (F,TTC)   (F,TTT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,102|T,1391)   total(C,102|T,1391) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 55, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:10227):
CCAGCACCGAGTGCTCATAAGCATCTTCACCGTCTCTCCAAATCTGAGGCCTGTCAACGAGAAGGTGAGATCAGCCACCAACAGGACCCCCGAGGCTCTC
R
GATGATAGAGTGGAGACACTTAAAGCCGTTCTGCTGCGGCATCACCAACATGAGCTTCCCCTTGTCCGACCAGCCTGTGTTGGGAGAATGGTTCATTTTT
Celera SNP ID:            hCV25969462
SNP Position Transcript:  521
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,38)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1276, None



Context             (SEQ ID NO:10228):
CTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTC
R
ACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCA
Celera SNP ID:            hCV25967772
SNP Position Transcript:  889
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,34)   total(A,2|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 123, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10229):
GTCACAGCCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCAGAGCGCCAGCCCGTTCCACAGATGGGGCCAGACTCCGGCCCCTC
R
GAGACATAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTCTTCGTCTACAGCCCAGCCTTTCAGAGTGGTGGGGAGGAGGGTTTA
Celera SNP ID:            hCV3065941
SNP Position Transcript:  5528
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,11)      total(G,3|A,11) ;PGA-AFRIGAN-PANEL(G,5|A,41)   PGA-EUR(EAN-PANEL(G,15|A,31)   total(G,20|A,72)   no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 1669, (Q,CAG)   (R,CGG)      1669, (R,CGG)   (Q,CAG)      



Context             (SEQ ID NO:10230):
CAGTTTGGTCCTGGGGACCATTCATACCCACACACCCAGCTTGTGCCTGTGGTTAACATCTCAGAAAACTCTGGTAAATGATCACTCCAGGATATTGACA
M
GAATACACGTTACTGATCTTACTCACATGTT
Celera SNP ID:            hCV3065942
SNP Position Transcript:  5788
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|A,6)      total(A,6|C,3) ;no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1276, None   



Context             (SEQ ID NO:10231):
GCCGCCAAGAGCTGGATCATCCAGCAGCAGCAGGCCGATGGCTCCTTCCTGGCCGTGGGCAGGGTCCTGAACAAGGACATCCAGGGTGGGATCCACGGCA
Y
TGTCCCGCTGACAGCCTACGTGGTGGTTGCTCTCCTGGAAACAGGCACAGCCTCAGAGGAGGAGAGAGGCTCCACTGACAAAGCGAGGCACTTCCTGGAG
Celera SNP ID:            hCV3065928
SNP Position Transcript:  3803
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,25)   caucasian(C,18|T,18)   total(C,25|T,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 1094, (T,ACT)   (I,ATT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 1094, (T,ACT)   (I,ATT)      



Context             (SEQ ID NO:10232):
CACAACGACGCCGGCGCTCCTCTGTCTTCCCGTGGCCTTGGGGCATCACCAAGGACTCTGGGTTTGCCTTCACCGAAACGGGACTGGTGGTGATGACCGA
M
CGAGTGAGCCTGAACCACCGGCAGGACGGTGGCCTCTACACCGATGAGGCTGTCCCCGCTTTCCAGCCCCACACAGGGAGCCTGGTGGCAGTGGCTCCTT
Celera SNP ID:            hCV25965701
SNP Position Transcript:  2097
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,27)   caucasian(C,40)   total(A,1|C,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 525, (E,GAA)   (D,GAC)   



Context             (SEQ ID NO:10233):
TCCGGGAGTGCGTGGTGGGCAGGACGTCGGCGCTGCCAGTCTCCGTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTCAGCAC
S
CACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGTCGGGCC
Celera SNP ID:            hCV15905376
SNP Position Transcript:  4989
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,10)   caucasian(C,17|G,15)   total(C,19|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 1489, (T,ACC)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 1489, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:10234):
CCATCCAATGAGTCTGTCATTGTGGCCTGGACCCTCCCGAGGCCACCAGAGGTCCAGTTCATTGGCTTTTCCACCGGCTGGGGCTCCATGGGTGAATTCC
R
AATCTGGAGGAAGATGGAGGTGGACGAGAGCTACAGCGAGGCCTTCACCCTGGGGGTCCCACACGGCGCCATCCCTGGGTCTGAGCGAGCCACCGCCTCC
Celera SNP ID:            hCV25961767
SNP Position Transcript:  3263
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,38)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 914, (Q,CAA)   (R,CGA)   



Context             (SEQ ID NO:10235):
CTGATTGACCCGCCCCGGTATATCCAAGACCTGGACGCCTGTGAGACAGGCACTGTGCGGGCCAGGTATACCTTTGGGAAACCTGTGGCTGGTGCCTTAA
Y
GATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCCGGGACTTCGACATC
Celera SNP ID:            hCV11699072
SNP Position Transcript:  794
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,4)   caucasian(C,34|T,2)   total(C,60|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 91, (T,ACG)   (M,ATG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,10)   total(C,10|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 91, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10236):
GGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGCGGAAGGAGT
Y
CCCCGGGCGTACACCTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGCGGCCACTGC
Celera SNP ID:            hCV25961205
SNP Position Transcript:  2805
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,40)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 761, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:10237):
TGTCCCAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACTGAACGGGAAGCC
Y
GTGGGGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCCCACCCACTGCAGG
Celera SNP ID:            hCV11699090
SNP Position Transcript:  1296
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,6)   caucasian(C,22|T,14)   total(C,48|T,20)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 258, (P,CCC)   (P,CCT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 258, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10238):
TCCCAGCGTGGACTAGTGGGGTTTGAAATCCCCTCCATCCCCACGTCAGCCCAGCACGTGTGGCTGGAGACCAAGGTGATGGCACTGAACGGGAAGCCCG
W
GGGGGCTCAGTACCTGCCCAGCTACCTCTCCCTCGGCAGCTGGTACTCCCCCAGCCAGTGCTACCTGCAGCTGCAGCCACCCTCCCACCCACTGCAGGTT
Celera SNP ID:            hCV25964831
SNP Position Transcript:  1298
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(A,1|T,37)   total(A,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 259, (E,GAG)   (V,GTG)   



Context             (SEQ ID NO:10239):
GCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTGTGACCTCTCTTC
R
TCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTCTTCTACGTCAGGGAGAATGGAGAAGGGGTCGCCGACAGCCTTCAGTTTGCAGTC
Celera SNP ID:            hCV1655870
SNP Position Transcript:  1637
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,24)   caucasian(A,22|G,12)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 372, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,4|A,6)      total(G,4|A,6) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 372, (H,CAT)   (R,CGT)      372, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:10240):
CCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACACCACCCAGCAGCGAAGCAAGCGGGC
R
GCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGACGTGTGTGTGACCTCTCTTC
Celera SNP ID:            hCV25956745
SNP Position Transcript:  1536
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,40)   total(A,1|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 338, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10241):
GCCGGGATGGGAGGTCCAGCAAACACCCTGAGGAGAATCACGCCGACAGGAGGGTCCCCATCGGGGTGGATCACGTCAGGCGCAGTGTGATGGTTGAGGC
R
GAAGGAGTCCCCCGGGCGTACACCTACAGCGCATTCTTCTGTCCCAGTGAGAGAGTCCACATCTCCACCCCCAACAAGTATGAGTTCCAGTATGTGCAGC
Celera SNP ID:            hCV25961228
SNP Position Transcript:  2796
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,40)   total(A,2|G,76)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1276, 758, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10242):
TATTTTTCTGTGAAGTCCACATGTCCCTGCAACTTTACCCTGTACTACGAGGTGGCTGCACGGGGCAATATTGTGCTATCGGGCCAGCAGCCTGCCCACA
Y
CACCCAGCAGCGAAGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAG
Celera SNP ID:            hCV25956694
SNP Position Transcript:  1511
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,40)   total(C,71|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 330, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:10243):
CTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAGATCCCGCTCAGTGTCTACAACTACATGGGCACCTGC
R
CTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACGCCATGTGACCAAGAAGATGTGTGTGGCCCCCGGGGA
Celera SNP ID:            hCV25964221
SNP Position Transcript:  2503
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,34)   total(A,2|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 661, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:10244):
CATCGGGGACGTCATGGGGCCAACCCTGAACCACCTCAACAACCTCCTGCGGCTGCCGTTTGGCTGTGGAGAGCAGAACATGATCCACTTTGCACCCAAC
R
TCTTTGTCTTGAAGTATCTTCAGAAAACCCAGCAGCTCAGCCCTGAGGTGGAGAGAGAGACCACCGACTACCTAGTACAAGGCTACCAGCGCCAGCTGAC
Celera SNP ID:            hCV15905341
SNP Position Transcript:  3466
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,28)   caucasian(G,36)   total(A,6|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 982, (I,ATC)   (V,GTC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,4|G,12)      total(G,12|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 982, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10245):
CTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGGAGCCAGCAGGTC
R
CGTTCGATGACTCCACCCCCGTGCAGAGGCAGCTGGTGGACATCCGGTACTCCAAGGACACGAGGAAGCAGTTCAAGCCGGGCCTGGCCTACGTGGGGAA
Celera SNP ID:            hCV25968388
SNP Position Transcript:  994
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,29)   caucasian(A,3|G,33)   total(A,4|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 158, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:10246):
GGGCTTAGGCATCGCCGAGCCCTCCCTGCTGAAGACCTTCAAGCCCTTCTTCGTGGACTTCATGCTCCCCGCTCTCATCATCCGTGGGGAGCAGGTCAAG
R
TCCCGCTCAGTGTCTACAACTACATGGGCACCTGCGCTGAGGTGTACATGAAGCTCTCGGTTCCCAAGGGCATCCAGTTTGTTGGGCATCCTGGCAAACG
Celera SNP ID:            hCV25964316
SNP Position Transcript:  2467
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,36)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 649, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10247):
AGCAGCGAAGCAAGCGGGCGGCCCCTGCCCTGGAGAAACCGATTCGTTTAACACACCTTTCTGAGACAGAGCCCCCACCAGCCCCAGAAGCTGAGGTCGA
M
GTGTGTGTGACCTCTCTTCATCTGGCCGTGACCCCCAGCATGGTCCCCCTTGGTCGCCTGCTGGTCTTCTACGTCAGGGAGAATGGAGAAGGGGTCGCCG
Celera SNP ID:            hCV25972158
SNP Position Transcript:  1617
SNP Source:               Applera
Population(Allele,Count): african american(A,13|C,17)   caucasian(A,11|C,23)   total(A,24|C,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 365, (E,GAA)   (D,GAC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 365, (E,GAA)   (D,GAC)      365, (D,GAC)   (E,GAA)      



Context             (SEQ ID NO:10248):
GCTGGTGCCTTAACGATCAACATGACTGTTAATGGTGTAGGGTACTACAGCCACGAGGTGGGACGCCCTGTCCTCAGAACAACCAAGATCCTCGGCTCCC
R
GGACTTCGACATCTGCGTGAGGGACATGATCCCAGCGGACGTCCCTGAGCACTTCCGGGGCAGGGTCAGCATCTGGGCCATAGTGACCAGTGTGGACGGG
Celera SNP ID:            hCV25967767
SNP Position Transcript:  881
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,26)   caucasian(A,14|G,20)   total(A,20|G,46)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 120, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,739|A,758)   total(G,739|A,758) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 120, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10249):
GGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCC
M
GGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTG
Celera SNP ID:            hCV26209746
SNP Position Transcript:  5231
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1276, 1570, (Q,CAG)   (P,CCG)      



Gene Number:                 224
Celera Gene:                 hCG37668 - 206000045734829
Celera Transcript:           hCT2348360 - 206000045734928
Public Transcript Accession: NM_003950
Celera Protein:              hCP1913610 - 206000045734849
Public Protein Accession:    NP_003941
Gene Symbol:                 VIP
Protein Name:                alpha-2 macroglobulin family protein VIP;KIAA1283
Celera Genomic Axis:         GA_x5YUV32W1A1(8121575..8132188)
Chromosome:                  Chr19
OMIM number:                 192320
OMIM Information:            VASOACTIVE INTESTINAL PEPTIDE;VIP


Transcript Sequence (SEQ ID NO:580):
TTGTGAGTGCCAAGGGGGACGGCTGCTGCCTGATGCAGATTGATGTCACCTACAATGTGCCTGACCCGGTGGCCAAGCCAGCTTTCCAGCTGCTCGTAAG
CCTCCAGGAGCCTGAGGCCCAGGGACGCCCGCCCCCCATGCCTGCCTCCGCAGCTGAGGGTTCCCGAGGAGACTGGCCCCCAGCTGACGATGATGACCCA
GCGGCCGATCAGCATCACCAGGAATACAAGGTGATGCTGGAGGTGTGCACCAGGTGGCTGCATGCAGGGTCTTCCAATATGGCTGTCCTGGAGGTGCCCC
TGCTGTCAGGCTTCCGGGCAGACATCGAGAGCCTGGAGCAGCTGCTCCTTGACAAGCACATGGGGATGAAGAGGTATGAAGTGGCTGGACGCCGAGTGCT
CTTCTACTTTGATGAGATCCCCAGCCGGTGCCTGACGTGCGTGCGGTTCCGTGCTCTCCGGGAGTGCGTGGTGGGCAGGACGTCGGCGCTGCCAGTCTCC
GTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTCAGCACSCACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCA
ACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGTCGGGCCCTGCCGTGGCCCCTGAGGAGGGGGCGGCGATCGCGCGATGCGG
CTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCMR
GCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTGG
CCCCGGGGCCTTTACAGCAGGACGTGAAGCTGAATGGAGCCGGCCTTGAGGTGGAGGACTCAGACCCTGAGCCTGAAGGGGAGGCGGAGGACAGTCAGAG
CGGCTTCTCTTCCTAACGGCTGCCCTGCTGAGAGCAGGACGACACCATCTGGCTGCATCCYGTCCCTATCAGCCTGTGACTCTGTATGGTGGGTGGGCAG
ACCTCAGCCCAGGTGACACCTGCCTCTAAATGAACCCAAGGAACAGAATGACAGAGATCTGCCCGTCCCTAGGATGAGACTCTTGGGACCCAGGTGTGGG
CTCAGCAGTCACCRGTGTGGTGCAGGGGGGACAGCTGGAGGTCCCTTGGGAGATCCCCCACCTTCCTAGCTACAGCTGGAGCTCCAAGCACCCCAACCCC
CCAGCCTTGGAGCTGGGCATCATTTTCCTGGGGCCACGGCAGCTCCCACAGCCTGACATTCTGTTCCCGGGAGAAGAAACATTCCCAGAAAGCACTCGTG
TGGCCAAAAGCCTCTTTCTGAGCAAACACGATGTGGACTAAATTAGCAAAACATCCAGCCGGTGGGCAAYTTCAAAACGGAACAGGCTGCGTTTCTCTGA
AACACAAAGCCCCGGCCTCCCTTTGGGGCACCCAGGACCCCAAATTGCCCTAAGACTGTCCCAGCTCTCGCACCCTCTGCCTTCGCCCCCCGGGGACCTC
GGGCTCACATCACAAGGCCCTGCGGGGAAGCAGATGGCTCTCAGCAAATGCACTTTCAGCTTCCGGCTGCCGGGGCTGGGTGACCCCGGTGCTTCCTCAC
CGTGAGTTCCTGATGTCCTCGTGCCCAGAGGACCAGCCCACTCCCAGGGCCCCCAGGCCCAGAACCTGCCTGCCTTGGGGGGCCCTACCAGCTGCCTGCC
ACCAGTACCAGCAGACTTTGATTCCCCTTTGTGACCCCTGGCACCTGCTTATGTCTGCATTTGCCCATCTTCTCCGGGGTGGTATTTATTTCAGCCAACA
CCGCTCAGCCCTGATCTCTGCCAGCAYGGAGGCCCCTCGCTGCCTGTGAGATCAAGGTCTGAGGCTGCCCTGGCCGGTGGGTTCCCCACCCCTGGCACCC
TACAAGCGACAGGCCCTGTGGCTCCTTCCTCAGCCCGAGGCCCCGTGCCCACTTGCTGTAGAGGATGTTGTAAGATAAAACCTCATCTCCAGGGTCACAG
CCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCAGAGCGCCAGCCCGTTCCACAGATGGGGCCAGACTCCGGCCCCTCRGAGACA
TAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTCTTCGTCTACAGCCCAGCCTTTCAGAGTGGTGGGGAGGAGGGTTTATGGATG
TCAAACACCTGCACCTTGAGATAATCCTACAACCACATGCAGTTGTGGGACCGCAGTTTGGTCCTGGGGACCATTCATACCCACACACCCAGCTTGTGCC
TGTGGTTAACATCTCAGAAAACTCTGGTAAATGATCACTCCAGG

Protein Sequence    (SEQ ID NO:1277):
VSAKGDGCCLMQIDVTYNVPDPVAKPAFQLLVSLQEPEAQGRPPPMPASAAEGSRGDWPPADDDDPAADQHHQEYKVMLEVCTRWLHAGSSNMAVLEVPL
LSGFRADIESLEQLLLDKHMGMKRYEVAGRRVLFYFDEIPSRCLTCVRFRALRECVVGRTSALPVSVYDYYEPAFEATRFYNVSTHSPLARELCAGPACN
EVERAPARGPGWFPGESGPAVAPEEGAAIARCGCDHDCGAQGNPVCGSDGVVYASACRLREAACRQAAPLEPAPPSCCALEQRLPASSSSTYGDDLASVA
PGPLQQDVKLNGAGLEVEDSDPEPEGEAEDSQSGFSS


SNP Information

Context             (SEQ ID NO:10250):
CAGACCCTGAGCCTGAAGGGGAGGCGGAGGACAGTCAGAGCGGCTTCTCTTCCTAACGGCTGCCCTGCTGAGAGCAGGACGACACCATCTGGCTGCATCC
Y
GTCCCTATCAGCCTGTGACTCTGTATGGTGGGTGGGCAGACCTCAGCCCAGGTGACACCTGCCTCTAAATGAACCCAAGGAACAGAATGACAGAGATCTG
Celera SNP ID:            hCV15955372
SNP Position Transcript:  1061
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,1|T,43)   total(C,1|T,43) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1277, None   



Context             (SEQ ID NO:10251):
GTCACAGCCGGGCCTCGGCCTCCTGTGAGCAGCGGGAACCTGGAAAGCAGCACCCAGAGCGCCAGCCCGTTCCACAGATGGGGCCAGACTCCGGCCCCTC
R
GAGACATAGTGGCCGGGTGGTGGGGGCCCACAGGCCAGGGCTTCTGAGCCCTGTCTTCGTCTACAGCCCAGCCTTTCAGAGTGGTGGGGAGGAGGGTTTA
Celera SNP ID:            hCV3065941
SNP Position Transcript:  2194
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,11)      total(G,3|A,11) ;PGA-AFRIGAN-PANEL(G,5|A,41)   PGA-EUR(EAN-PANEL(G,15|A,31)   total(G,20|A,72)   no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1277, None   



Context             (SEQ ID NO:10252):
CTTTGTGACCCCTGGCACCTGCTTATGTCTGCATTTGCCCATCTTCTCCGGGGTGGTATTTATTTCAGCCAACACCGCTCAGCCCTGATCTCTGCCAGCA
Y
GGAGGCCCCTCGCTGCCTGTGAGATCAAGGTCTGAGGCTGCCCTGGCCGGTGGGTTCCCCACCCCTGGCACCCTACAAGCGACAGGCCCTGTGGCTCCTT
Celera SNP ID:            hCV29031668
SNP Position Transcript:  1927
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1277, None   



Context             (SEQ ID NO:10253):
TCCGGGAGTGCGTGGTGGGCAGGACGTCGGCGCTGCCAGTCTCCGTGTACGACTACTACGAACCCGCCTTCGAGGCCACTCGCTTCTACAACGTCAGCAC
S
CACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGGGCTGGTTCCCCGGCGAGTCGGGCC
Celera SNP ID:            hCV15905376
SNP Position Transcript:  557
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,10)   caucasian(C,17|G,15)   total(C,19|G,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1277, 185, (T,ACC)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1277, 185, (T,ACC)   (T,ACG)      



Context             (SEQ ID NO:10254):
GCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCA
R
GCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTGG
Celera SNP ID:            hCV15894787
SNP Position Transcript:  800
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1277, 266, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:10255):
TGACACCTGCCTCTAAATGAACCCAAGGAACAGAATGACAGAGATCTGCCCGTCCCTAGGATGAGACTCTTGGGACCCAGGTGTGGGCTCAGCAGTCACC
R
GTGTGGTGCAGGGGGGACAGCTGGAGGTCCCTTGGGAGATCCCCCACCTTCCTAGCTACAGCTGGAGCTCCAAGCACCCCAACCCCCCAGCCTTGGAGCT
Celera SNP ID:            hCV15955337
SNP Position Transcript:  1214
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(A,4|G,44)   total(G,44|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1277, None   



Context             (SEQ ID NO:10256):
GGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCC
M
GGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCGAGCAGCGGCTGCCGGCCTCGTCGTCCTCCACCTACGGGGATGACCTGGCTTCTGTG
Celera SNP ID:            hCV26209746
SNP Position Transcript:  799
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1277, 266, (Q,CAG)   (P,CCG)      



Context             (SEQ ID NO:10257):
GGAGAAGAAACATTCCCAGAAAGCACTCGTGTGGCCAAAAGCCTCTTTCTGAGCAAACACGATGTGGACTAAATTAGCAAAACATCCAGCCGGTGGGCAA
Y
TTCAAAACGGAACAGGCTGCGTTTCTCTGAAACACAAAGCCCCGGCCTCCCTTTGGGGCACCCAGGACCCCAAATTGCCCTAAGACTGTCCCAGCTCTCG
Celera SNP ID:            hCV15955338
SNP Position Transcript:  1470
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,3|C,43)   total(C,43|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1277, None   



Gene Number:                 225
Celera Gene:                 hCG37690 - 107000109405300
Celera Transcript:           hCT28924 - 107000109405301
Public Transcript Accession: NM_001785
Celera Protein:              hCP47615 - 197000069368243
Public Protein Accession:    NP_001776
Gene Symbol:                 CDA
Protein Name:                cytidine deaminase;CDD
Celera Genomic Axis:         GA_x5YUV32W3P1(3716224..3746197)
Chromosome:                  Chr1
OMIM number:                 123920
OMIM Information:            CYTIDINE DEAMINASE;CDA


Transcript Sequence (SEQ ID NO:581):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCKGTCTGGCTGCAGGGACACACCCARGGGRAGGAGCTGCAATCGTGTC
TGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCGTCCTGCCTGCACCCTGAA
GCCTGAGTGTGTCCAGCAGCTGCTGGTTTGCTCCCAGGAGGCCAAGMAGTCAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACC
CAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTACCCRCTGGGCATCTGTGCTGAACGGACCGCTATCCAGAAGGCCGTCTCAGAAG
GGTACAAGGATTTCAGGGCAATTGCTATCGCCAGTGACATGCAAGATGATTTTATCTCTCCATGTGGGGCCTGCAGGCAAGTCATGAGAGAGTTTGGCAC
CAACTGGCCCGTGTACATGACCAAGCCGGATGGTACGTATATTGTCATGACGGTCCAGGAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAG
ACYCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAAYTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGSGCCCC
AGCCCYACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAGCACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACACCGCCG
CCCCCTGCCCCACCTTTCCTTTCCTTCCTGTGGGCCCTCTTTCAAAGTCCAGCCTAGTCTGGACTGCTTCCCCATCAGCCTTCCCAAGGTTCTATCCTGT
TCCGAGCAACTTTTCTAATTATAAACATCACAGAACATCCTGGATCAAAGC

Protein Sequence    (SEQ ID NO:1278):
MAQKRPACTLKPECVQQLLVCSQEAKKSAYCPYSHFPVGAALLTQEGRIFKGCNIENACYPLGICAERTAIQKAVSEGYKDFRAIAIASDMQDDFISPCG
ACRQVMREFGTNWPVYMTKPDGTYIVMTVQELLPSSFGPEDLQKTQ


SNP Information

Context             (SEQ ID NO:10258):
GTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGCCC
Y
ACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAGCACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACACCGCCGCCCCCT
Celera SNP ID:            hCV7477302
SNP Position Transcript:  706
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1278, None   



Context             (SEQ ID NO:10259):
GGTCCAGGAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAGACCCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAA
Y
TTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGCCCTACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTG
Celera SNP ID:            hCV7477303
SNP Position Transcript:  652
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1278, None   



Context             (SEQ ID NO:10260):
ACTGGCCCGTGTACATGACCAAGCCGGATGGTACGTATATTGTCATGACGGTCCAGGAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAGAC
Y
CAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGC
Celera SNP ID:            hCV7477307
SNP Position Transcript:  603
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1278, 145, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10261):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCGGTCTGGCTGCAGGGACACACCCA
R
GGGGAGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGA
Celera SNP ID:            hCV7477396
SNP Position Transcript:  78
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,25|G,13)   total(A,57|G,17)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1278, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1278, None   



Context             (SEQ ID NO:10262):
GCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCGTCCTGCCTGCACCCTGAAGCCTGAGTGTGTCCAGCAGCTGCTGGTTTGCTCCCAGGAGGCCAAG
M
AGTCAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACCCAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTA
Celera SNP ID:            hCV25472931
SNP Position Transcript:  247
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,28|C,12)   total(A,58|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1278, 27, (K,AAG)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1278, 27, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:10263):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGC
K
GTCTGGCTGCAGGGACACACCCAAGGGGAGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTG
Celera SNP ID:            hCV25617654
SNP Position Transcript:  54
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(G,39|T,1)   total(G,75|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1278, None



Context             (SEQ ID NO:10264):
CAGAAGACCCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTG
S
GCCCCAGCCCTACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAGCACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACAC
Celera SNP ID:            hCV566794
SNP Position Transcript:  695
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1278, None   



Context             (SEQ ID NO:10265):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCGGTCTGGCTGCAGGGACACACCCAAGGG
R
AGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCG
Celera SNP ID:            hCV566822
SNP Position Transcript:  82
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1278, None   



Context             (SEQ ID NO:10266):
CAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACCCAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTACCC
R
CTGGGCATCTGTGCTGAACGGACCGCTATCCAGAAGGCCGTCTCAGAAGGGTACAAGGATTTCAGGGCAATTGCTATCGCCAGTGACATGCAAGATGATT
Celera SNP ID:            hCV25617667
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1278, 61, (P,CCA)   (P,CCG)   



Gene Number:                 225
Celera Gene:                 hCG37690 - 107000109405300
Celera Transcript:           hCT1961488 - 107000109405309
Public Transcript Accession: NM_001785
Celera Protein:              hCP1774603 - 197000069368244
Public Protein Accession:    NP_001776
Gene Symbol:                 CDA
Protein Name:                cytidine deaminase;CDD
Celera Genomic Axis:         GA_x5YUV32W3P1(3716224..3746086)
Chromosome:                  Chr1
OMIM number:                 123920
OMIM Information:            CYTIDINE DEAMINASE;CDA


Transcript Sequence (SEQ ID NO:582):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCKGTCTGGCTGCAGGGACACACCCARGGGRAGGAGCTGCAATCGTGTC
TGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCGTCCTGCCTGCACCCTGAA
GCCTGAGTGTGTCCAGCAGCTGCTGGTTTGCTCCCAGGAGGCCAAGMAGTCAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACC
CAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTACCCRCTGGGCATCTGTGCTGAACGGACCGCTATCCAGAAGGCCGTCTCAGAAG
GGTACAAGGATTTCAGGGCAATTGCTATCGCCAGTTTGGCACCAACTGGCCCGTGTACATGACCAAGCCGGATGGTACGTATATTGTCATGACGGTCCAG
GAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAGACYCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAAYTTCATA
AAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGSGCCCCAGCCCYACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAG
CACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACACCGCCGCCCCCTGCCCCACCTTTCCTTTCCTTCCTGTGGGCCCTCT

Protein Sequence    (SEQ ID NO:1279):
MAQKRPACTLKPECVQQLLVCSQEAKKSAYCPYSHFPVGAALLTQEGRIFKGCNIENACYPLGICAERTAIQKAVSEGYKDFRAIAIASLAPTGPCT


SNP Information

Context             (SEQ ID NO:10267):
GTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGCCC
Y
ACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAGCACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACACCGCCGCCCCCT
Celera SNP ID:            hCV7477302
SNP Position Transcript:  648
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10268):
GGTCCAGGAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAGACCCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAA
Y
TTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGCCCTACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTG
Celera SNP ID:            hCV7477303
SNP Position Transcript:  594
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10269):
ACTGGCCCGTGTACATGACCAAGCCGGATGGTACGTATATTGTCATGACGGTCCAGGAGCTGCTGCCCTCCTCCTTTGGGCCTGAGGACCTGCAGAAGAC
Y
CAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTGGGCCCCAGC
Celera SNP ID:            hCV7477307
SNP Position Transcript:  545
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10270):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCGGTCTGGCTGCAGGGACACACCCA
R
GGGGAGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGA
Celera SNP ID:            hCV7477396
SNP Position Transcript:  78
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,25|G,13)   total(A,57|G,17)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1279, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10271):
GCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCGTCCTGCCTGCACCCTGAAGCCTGAGTGTGTCCAGCAGCTGCTGGTTTGCTCCCAGGAGGCCAAG
M
AGTCAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACCCAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTA
Celera SNP ID:            hCV25472931
SNP Position Transcript:  247
SNP Source:               Applera
Population(Allele,Count): african american(A,30|C,4)   caucasian(A,28|C,12)   total(A,58|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1279, 27, (K,AAG)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1279, 27, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:10272):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGC
K
GTCTGGCTGCAGGGACACACCCAAGGGGAGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTG
Celera SNP ID:            hCV25617654
SNP Position Transcript:  54
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(G,39|T,1)   total(G,75|T,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1279, None



Context             (SEQ ID NO:10273):
CAGAAGACCCAGTGACAGCCAGAGAATGCCCACTGCCTGTAACAGCCACCTGGAGAACTTCATAAAGATGTCTCACAGCCCTGGGGACACCTGCCCAGTG
S
GCCCCAGCCCTACAGGGACTGGGCAAAGATGATGTTTCCAGATTACACTCCAGCCTGAGTCAGCACCCCTCCTAGCAACCTGCCTTGGGACTTAGAACAC
Celera SNP ID:            hCV566794
SNP Position Transcript:  637
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10274):
GAGGCTCCTCTCCTAGACCCTGCATCCTGAAAGCTGCGTACCTGAGAGCCTGCGGTCTGGCTGCAGGGACACACCCAAGGG
R
AGGAGCTGCAATCGTGTCTGGGGCCCCAGCCCAGGCTGGCCGGAGCTCCTGTTTCCGCTGCTCTGCTGCCTGCCCGGGGTACCAACATGGCCCAGAAGCG
Celera SNP ID:            hCV566822
SNP Position Transcript:  82
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1279, None   



Context             (SEQ ID NO:10275):
CAGCCTACTGCCCCTACAGTCACTTTCCTGTGGGGGCTGCCCTGCTCACCCAGGAGGGGAGAATCTTCAAAGGGTGCAACATAGAAAATGCCTGCTACCC
R
CTGGGCATCTGTGCTGAACGGACCGCTATCCAGAAGGCCGTCTCAGAAGGGTACAAGGATTTCAGGGCAATTGCTATCGCCAGTTTGGCACCAACTGGCC
Celera SNP ID:            hCV25617667
SNP Position Transcript:  351
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1279, 61, (P,CCA)   (P,CCG)   



Gene Number:                 226
Celera Gene:                 hCG37739 - 207000009795026
Celera Transcript:           hCT1960223 - 207000009795029
Public Transcript Accession: NM_130767
Celera Protein:              hCP1772626 - 207000009795043
Public Protein Accession:    NP_570123
Gene Symbol:                 CACH-1
Protein Name:                cytosolic acetyl-CoA hydrolase
Celera Genomic Axis:         GA_x5YUV32W40L(9929959..9994303)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:583):
GCCGCAGGCGTAGCGCTCTCGCCCTGGCCATGGAGCGGCCGGCGCCCGGCGAGGTGGTCATGAGCCAAGCCATCCAGCCGGCGCACGCCACTGCGCGCGG
CGAGCTGAGCGCGGGGCAGCTGCTCAAGTGGATCGACACCACCGCCTGCCTGGCGGCTGAGAAACATGCTGGAGTTTCCTGCGTTACAGCCTCAGTGGAT
GACATACAGTTTGAGGAGACAGCTAGAGTTGGACAAGTTATAACCATCAAAGCAAAAGTTACTAGAGCATTCAGCACAAGCATGGAGCCGCCTGTGTTGG
GCTCATCCCTTTCTGAAGTCCRTAGATATGTTTAAGTTCCGGGGACCATCTACAGTTGGAGATCGTCTTGTCTTCACTGCCATTGTCAACAATACATTTC
AGACCTGGTAAAGTGAGCCCTTAGGCTGCTATGAAGAAATTTAAACTTGCACAAATGTAATTTTTAATTTCAGCCTGGAGTGTTGAAGTTGGAGTTCGCG
TGGAGGCCTTTGACTGTCAGGAATGGGCCGAGGGCCGAGGGCGTCACATCAACAGTGCTTTTSTCATTTACAATGCTGCTGATGATAAGGAAAATCTCAT
CACGTTTCCCAGAATCCAACCCATTTCAAAGGATGATTTCAGACGCTATCGGGGAGCTATTGCACGCAAGCGAATTCGCCTAGGCAGAAAATATGTTATT
TCCCACAAAGAAGAGGTTCCACTTTGCATACACTGGGATATCAGCAAGCAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCA
AAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGATAAAAATATATACTCTGGAAGAGCATGATGTTTTATCTGTTTGGGTTGAAAAGCACGTGGGAAG
TCCAGCACATTTGRCTTATCGTCTCTTGTCTGACTTTACAAAGCGACCTTTGTGGGACCCCCATTTTGTGTCCTGTGAAGTCATAGACTGGGTGAGTGAA
GATGATCAGCTGTATCACATCACCTGTCCTATACTGAATGATGACAAACCCAAAGACTTGGTAGTACTCGTATCACGAAGAAAACCCCTCAAAGATGGTA
ACACTTACACAGTGGCAGTGAAGTCGGTCATTTTGCCATCGGTCCCCCCGTCTCCACAGTACATCAGAAGTGAAATCATATGTGCCGGATTTCTCATCCA
TGCTATTGACAGCAATTCATGCATCGTATCTTACTTTAACCATATGTCTGCTAGCATCCTTCCTTACTTTGCTGGAAATCTTGGTGGCTGGTCAAAATCC
ATTGAAGAAACAGCAGCCTCTTGTATACAGTTCTTAGAGAATCCTCCTGATGATGGGTTTGTAAGCACATTTTAAAGGTCAACTTTCAATTACTGGTAAT
TTAATTTCCCACTTTTAATTCCAAGCACCCTTAGCCCTGACATCTGTCAAGCTTTGGGGCCACAAAATAATTTAATATAACCCTAAGCAAAATGCAGTGA
CGGAGTTAAAAAACAAAATGCATCTTAAGTCAAATACCAGTGATTTGGATTAGCATTAAAAGAGCTTTAGAATTCTGTTGTAAGTCATCTGTGGCTCTGC
CTCTTCCAGGGGCACAGATAGTGGAAAATTGCCTGTATGCARTACTATGTGTTCTATAAAATGGCATGAATTTAGTTTAAATTATCGTAAACATTTTTAG
GTTACAGAGGTGAAACATGCATTCTGTGTGAAATTCCAAAAAAAAAATTATAAAATCTAAAA

Protein Sequence    (SEQ ID NO:1280):
MERPAPGEVVMSQAIQPAHATARGELSAGQLLKWIDTTACLAAEKHAGVSCVTASVDDIQFEETARVGQVITIKAKVTRAFSTSMEPPVLGSSLSEVRRY
V


SNP Information

Context             (SEQ ID NO:10276):
GGTTACCAGCACTGTGGAAAAGATAAAAATATATACTCTGGAAGAGCATGATGTTTTATCTGTTTGGGTTGAAAAGCACGTGGGAAGTCCAGCACATTTG
R
CTTATCGTCTCTTGTCTGACTTTACAAAGCGACCTTTGTGGGACCCCCATTTTGTGTCCTGTGAAGTCATAGACTGGGTGAGTGAAGATGATCAGCTGTA
Celera SNP ID:            hCV7439646
SNP Position Transcript:  914
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,3|G,27)   total(A,10|G,50)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1280, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;POOLE|_CEPH(G,37|A,151)   total(G,37|A,151)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1280, None   



Context             (SEQ ID NO:10277):
TTTAATTTCAGCCTGGAGTGTTGAAGTTGGAGTTCGCGTGGAGGCCTTTGACTGTCAGGAATGGGCCGAGGGCCGAGGGCGTCACATCAACAGTGCTTTT
S
TCATTTACAATGCTGCTGATGATAAGGAAAATCTCATCACGTTTCCCAGAATCCAACCCATTTCAAAGGATGATTTCAGACGCTATCGGGGAGCTATTGC
Celera SNP ID:            hCV25755257
SNP Position Transcript:  563
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1280, None



Context             (SEQ ID NO:10278):
GATTTGGATTAGCATTAAAAGAGCTTTAGAATTCTGTTGTAAGTCATCTGTGGCTCTGCCTCTTCCAGGGGCACAGATAGTGGAAAATTGCCTGTATGCA
R
TACTATGTGTTCTATAAAATGGCATGAATTTAGTTTAAATTATCGTAAACATTTTTAGGTTACAGAGGTGAAACATGCATTCTGTGTGAAATTCCAAAAA
Celera SNP ID:            hCV390673
SNP Position Transcript:  1642
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1280, None   



Context             (SEQ ID NO:10279):
GCTAGAGTTGGACAAGTTATAACCATCAAAGCAAAAGTTACTAGAGCATTCAGCACAAGCATGGAGCCGCCTGTGTTGGGCTCATCCCTTTCTGAAGTCC
R
TAGATATGTTTAAGTTCCGGGGACCATCTACAGTTGGAGATCGTCTTGTCTTCACTGCCATTGTCAACAATACATTTCAGACCTGGTAAAGTGAGCCCTT
Celera SNP ID:            hCV25750122
SNP Position Transcript:  322
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,33)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1280, 98, (H,CAT)   (R,CGT)   



Gene Number:                 226
Celera Gene:                 hCG37739 - 207000009795026
Celera Transcript:           hCT28973 - 207000009795027
Public Transcript Accession: NM_130767
Celera Protein:              hCP47684 - 197000064940222
Public Protein Accession:    NP_570123
Gene Symbol:                 CACH-1
Protein Name:                cytosolic acetyl-CoA hydrolase
Celera Genomic Axis:         GA_x5YUV32W40L(9929959..9994303)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:584):
GCCGCAGGCGTAGCGCTCTCGCCCTGGCCATGGAGCGGCCGGCGCCCGGCGAGGTGGTCATGAGCCAAGCCATCCAGCCGGCGCACGCCACTGCGCGCGG
CGAGCTGAGCGCGGGGCAGCTGCTCAAGTGGATCGACACCACCGCCTGCCTGGCGGCTGAGAAACATGCTGGAGTTTCCTGCGTTACAGCCTCAGTGGAT
GACATACAGTTTGAGGAGACAGCTAGAGTTGGACAAGTTATAACCATCAAAGCAAAAGTTACTAGAGCATTCAGCACAAGCATGGAGATCAGTATCAAGG
TCATGGTACAGGATATGCTCACTGGCATTGAGAAGCTTGTTAGTGTGGCTTTCTCCACATTTGTAGCCAAACCAGTTGGAAAAGAAAAGATTCATTTAAA
ACCAGTCACACTTCTAACTGAACAAGATCATGTGGAACATAATCTGGCTGCTGAGAGAAGGAAAGTTCGATTACAACATGAAGATACCTTTAACAATTTA
ATGAAGGAAAGTAGCAAATTTGATGATCTCATTTTTGATGAAGAGGAAGGAGCGGTTTCCACAAGGGGCACCTCCGTTCAGAGCATTGAACTGGTCCTCC
CACCCCATGCAAACCATCACGGAAATACATTTGGTGGCCAGATTATGGCGTGGATGGAGACAGTGGCTACTATTTCTGCAAGCCGCCTGTGTTGGGCTCA
TCCCTTTCTGAAGTCCRTAGATATGTTTAAGTTCCGGGGACCATCTACAGTTGGAGATCGTCTTGTCTTCACTGCCATTGTCAACAATACATTTCAGACC
TGTGTTGAAGTTGGAGTTCGCGTGGAGGCCTTTGACTGTCAGGAATGGGCCGAGGGCCGAGGGCGTCACATCAACAGTGCTTTTSTCATTTACAATGCTG
CTGATGATAAGGAAAATCTCATCACGTTTCCCAGAATCCAACCCATTTCAAAGGATGATTTCAGACGCTATCGGGGAGCTATTGCACGCAAGCGAATTCG
CCTAGGCAGAAAATATGTTATTTCCCACAAAGAAGAGGTTCCACTTTGCATACACTGGGATATCAGCAAGCAGGCATCCCTGAGTGACAGCAATGTGGAG
GCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGATAAAAATATATACTCTGGAAGAGCATGATGTTTTATCTGTTT
GGGTTGAAAAGCACGTGGGAAGTCCAGCACATTTGRCTTATCGTCTCTTGTCTGACTTTACAAAGCGACCTTTGTGGGACCCCCATTTTGTGTCCTGTGA
AGTCATAGACTGGGTGAGTGAAGATGATCAGCTGTATCACATCACCTGTCCTATACTGAATGATGACAAACCCAAAGACTTGGTAGTACTCGTATCACGA
AGAAAACCCCTCAAAGATGGTAACACTTACACAGTGGCAGTGAAGTCGGTCATTTTGCCATCGGTCCCCCCGTCTCCACAGTACATCAGAAGTGAAATCA
TATGTGCCGGATTTCTCATCCATGCTATTGACAGCAATTCATGCATCGTATCTTACTTTAACCATATGTCTGCTAGCATCCTTCCTTACTTTGCTGGAAA
TCTTGGTGGCTGGTCAAAATCCATTGAAGAAACAGCAGCCTCTTGTATACAGTTCTTAGAGAATCCTCCTGATGATGGGTTTGTAAGCACATTTTAAAGG
TCAACTTTCAATTACTGGTAATTTAATTTCCCACTTTTAATTCCAAGCACCCTTAGCCCTGACATCTGTCAAGCTTTGGGGCCACAAAATAATTTAATAT
AACCCTAAGCAAAATGCAGTGACGGAGTTAAAAAACAAAATGCATCTTAAGTCAAATACCAGTGATTTGGATTAGCATTAAAAGAGCTTTAGAATTCTGT
TGTAAGTCATCTGTGGCTCTGCCTCTTCCAGGGGCACAGATAGTGGAAAATTGCCTGTATGCARTACTATGTGTTCTATAAAATGGCATGAATTTAGTTT
AAATTATCGTAAACATTTTTAGGTTACAGAGGTGAAACATGCATTCTGTGTGAAATTCCAAAAAAAAAATTATAAAATCTAAAA

Protein Sequence    (SEQ ID NO:1281):
MERPAPGEVVMSQAIQPAHATARGELSAGQLLKWIDTTACLAAEKHAGVSCVTASVDDIQFEETARVGQVITIKAKVTRAFSTSMEISIKVMVQDMLTGI
EKLVSVAFSTFVAKPVGKEKIHLKPVTLLTEQDHVEHNLAAERRKVRLQHEDTFNNLMKESSKFDDLIFDEEEGAVSTRGTSVQSIELVLPPHANHHGNT
FGGQIMAWMETVATISASRLCWAHPFLKSVDMFKFRGPSTVGDRLVFTAIVNNTFQTCVEVGVRVEAFDCQEWAEGRGRHINSAFLIYNAADDKENLITF
PRIQPISKDDFRRYRGAIARKRIRLGRKYVISHKEEVPLCIHWDISKQASLSDSNVEALKKLAAKRGWEVTSTVEKIKIYTLEEHDVLSVWVEKHVGSPA
HLAYRLLSDFTKRPLWDPHFVSCEVIDWVSEDDQLYHITCPILNDDKPKDLVVLVSRRKPLKDGNTYTVAVKSVILPSVPPSPQYIRSEIICAGFLIHAI
DSNSCIVSYFNHMSASILPYFAGNLGGWSKSIEETAASCIQFLENPPDDGFVSTF


SNP Information

Context             (SEQ ID NO:10280):
GGTTACCAGCACTGTGGAAAAGATAAAAATATATACTCTGGAAGAGCATGATGTTTTATCTGTTTGGGTTGAAAAGCACGTGGGAAGTCCAGCACATTTG
R
CTTATCGTCTCTTGTCTGACTTTACAAAGCGACCTTTGTGGGACCCCCATTTTGTGTCCTGTGAAGTCATAGACTGGGTGAGTGAAGATGATCAGCTGTA
Celera SNP ID:            hCV7439646
SNP Position Transcript:  1236
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,3|G,27)   total(A,10|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1281, 403, (T,ACT)   (A,GCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;POOLE|_CEPH(G,37|A,151)   total(G,37|A,151)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1281, 403, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10281):
CAATACATTTCAGACCTGTGTTGAAGTTGGAGTTCGCGTGGAGGCCTTTGACTGTCAGGAATGGGCCGAGGGCCGAGGGCGTCACATCAACAGTGCTTTT
S
TCATTTACAATGCTGCTGATGATAAGGAAAATCTCATCACGTTTCCCAGAATCCAACCCATTTCAAAGGATGATTTCAGACGCTATCGGGGAGCTATTGC
Celera SNP ID:            hCV25755257
SNP Position Transcript:  885
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1281, 286, (L,CTC)   (V,GTC)   



Context             (SEQ ID NO:10282):
GATTTGGATTAGCATTAAAAGAGCTTTAGAATTCTGTTGTAAGTCATCTGTGGCTCTGCCTCTTCCAGGGGCACAGATAGTGGAAAATTGCCTGTATGCA
R
TACTATGTGTTCTATAAAATGGCATGAATTTAGTTTAAATTATCGTAAACATTTTTAGGTTACAGAGGTGAAACATGCATTCTGTGTGAAATTCCAAAAA
Celera SNP ID:            hCV390673
SNP Position Transcript:  1964
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1281, None   



Context             (SEQ ID NO:10283):
TCACGGAAATACATTTGGTGGCCAGATTATGGCGTGGATGGAGACAGTGGCTACTATTTCTGCAAGCCGCCTGTGTTGGGCTCATCCCTTTCTGAAGTCC
R
TAGATATGTTTAAGTTCCGGGGACCATCTACAGTTGGAGATCGTCTTGTCTTCACTGCCATTGTCAACAATACATTTCAGACCTGTGTTGAAGTTGGAGT
Celera SNP ID:            hCV25750122
SNP Position Transcript:  717
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,33)   total(A,2|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1281, 230, (I,ATA)   (V,GTA)   



Gene Number:                 227
Celera Gene:                 hCG37774 - 104000117648431
Celera Transcript:           hCT29008 - 104000117648432
Public Transcript Accession: NM_000253
Celera Protein:              hCP48619 - 197000069479734
Public Protein Accession:    NP_000244
Gene Symbol:                 MTP
Protein Name:                microsomal triglyceride transfer protein (large polypeptide, 88kDa)
Celera Genomic Axis:         GA_x5YUV32W7K2(47618373..47667550)
Chromosome:                  Chr4
OMIM number:                 157147
OMIM Information:            MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD;MTP


Transcript Sequence (SEQ ID NO:585):
ACTCCCTCACTGGCTGCCATTGAAAGAGTCCACTTCTCAGTGACTCCTAGCTGGGCACTGGATGCAGTTGAGGATTGCTGGTCAATATGATTCTTCTTGC
TGTGCTTTTTCTCTGCTTCATTTCSTCATATTCAGCTTCTGTTAAAGGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTAC
TCCACTGAAGTTCTTCTTGATCGGGGCAAAGGAAAACTGCAAGACAGCGTGGGCTACCGCATTTCCTCCAACGTGGATGTGGCCTTACTATGGAGGAATC
CTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCASAGAGGAGASAAGAGCATCTTCAAAGGAAA
AAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAAYCCATGGAAAGGTCAAAGAGTTCTACTCATAT
CAAARTGAGGCAGTGGCCATAGAAAATATCAAGAGAGGYCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCARTGAGRTAGATATCTCTG
GAAATTGYAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATTTACGACCCCAAA
TCAGGTCTTGGGTGTCAGTTCAAAAGCTACATCTGTCACCACCTATAAGATAGAAGACAGCTTTGTTATAGCTGTGCTTGCTGAAGAAACACACAATTTT
GGACTGAATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACAACCGAAGCAGGCCCAAGAYTGATGTCTGGAAAGC
AGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCASTGTAAAGGATGTCCTTCTCTCTC
GGAGCTCTGGCGGTCCACMAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCYGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACT
GCGAAGAAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATTACCTCAGCTGGTGGATGCTGTCACCTCTGCTCAGACCTCAGACTCAT
TAGAAGCCATTTTGGACTTTTTGGATTTCAAAAGTGMCAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCTTCTCATCCCAATGA
AGAACTCCTGAGAGCCCTCATTAGTAAGTTCAAAGGTTCTATTGGTAGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAG
TTGTGTCAGAATGAAGGCTGCAAACTCWAAGCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGA
TGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTAC
CACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTGAAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACT
GTGCRCACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGA
ATAAATACATGCTCGCCATTGTTCAAGACATCCTACGTTTTGAAATGCCTGCAAKCAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTA
TGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCG
GGTTCTGGCATTCTAAGGAGAAGTAACCTGAACATCTTTCAGTACATTGGGAAGGCTGGTCTTCACGGTAGCCAGGTGGTTATTGAAGCCCAAGGACTGG
AAGCCTTAATCGCAGCCACCCCTGACGAGGGGGAGGAGAACCTTGACTCCTATGCTGGTATGTCAGCCATCCTCTTTGATGTTCAGCTCAGACCTGTCAC
CTTTTTCAACGGATACAGTGATTTGATGTCCAAAATGCTGTCAGCATCTGGCGACCCTATCAGTGTGGTGAAAGGACTTATTCTGCTAATAGATCATTCT
CAGGAACTTCAGTTACAATCTGGACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGATATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATC
GTGAGTCTAAAACCCGAGTGAAAWATAGGGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGCCTGGAAACCAGTAC
AGAAACAGAAGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCTCAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAGG
CAATTTGAGWAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCAKGATGTGAATTCCCGCTCCATC
AAGAGAACTCAGAGATGTGCAAAGTGGTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGAAACTGACCTGTGATATTTTACTTGAATTT
GTCTCCCCGAAAGGGACACAATGTGGCATGACTAAGTACTTGCTCTCTGAGAGCACAGCGTTTACATATTTACCTGTATTTAAGATTTTTGTAAAAAGCT
ACAAAAAACTGCAGTTTGATCAAATTTGGGTATATGCAGTATGCTACCCACAGCGTCATTTTGAATCATCATGTGACGCTTTCAACAACGTTCTTAGTTT
ACTTATACCTCTCTCAAATCTCATTTGGTACAGTCAGAATAGTTATTCTCTAAGAGGAAACTAGTGTTTGTTAAAAACAAAAATAAAAACAAAACCACAC
AAGGAGAACCCAATTTTGTTTCAACAATTTTTGATCAATGTATATGAAGCTCTTGATAGGACTTCCTTAAGCATGACGGGAAAACCAAACACGTTCCCTA
ATCAGGAAAAAAAAAAAAAAAAAAAGTAAGACACAAACAAACCATTTTTTTTCTCTTTTTTTGGAGTTGGGGGCCCAGGGAGAAGGGACAAGRCTTTTAA
AAGACTTGTTAGCCAACTTCAAGAATTAATATTTATGTCTCTGTTATTGTTAGTTTTAAGCCTTAAGGTAGAAGGCACATAGAAATAACATCTCATCTTT
CTGCTGACCATTTTAGTGAGGTTGTTCCAAAGACATTCAGGTCTCTACCTCCAGCCCTGCAAAAATATTGGACCTAGCACAGAGGAATCAGGAAAATTAA
TTTCAGAAACTCCATTTGATTTTTCTTTTGCTGTGTCTTTTTGAGACTGTAATATGGTACACTGTCCTCTAAGGGACATCCTCATTTTATCTCACCTTTT
TGGGGGTGAGAGCTCTAGTTCATTTAACTGTAMTCTGCACAATAGCTAGGATGACTAAGAGAACATTGCTTCAAGAAACTGGTGGATTTGGATTTCCAAA
ATATGAAATAAGGAAAAAAATGTTTTTATTTGTATGAATTAAAAGATCCATGTTGAACATTTGCAAATATTTATTAATAAACAGATGTGGTGATAAACCC
AAAACAAATGACAGGTSCTTATTTTCCACTAAACACAGACACATGAAATGAAAGTTTAGCTAGCCCACTATTTGTTGTAAATTGAAAACGAAGTGTGATA
AAATAAATATGTAGAAATC

Protein Sequence    (SEQ ID NO:1282):
MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRISSNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKS
IFKGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSG
FTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSQCKG
CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLVDAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFA
SHPNEELLRALISKFKGSIGSSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLLKYAEAGEGPI
SHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQ
LRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKNRVTVVITTDITVDSSFVKAG
LETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQFEKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF


SNP Information

Context             (SEQ ID NO:10284):
GAAAATAAGGAAGTATTACCTCAGCTGGTGGATGCTGTCACCTCTGCTCAGACCTCAGACTCATTAGAAGCCATTTTGGACTTTTTGGATTTCAAAAGTG
M
CAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCTTCTCATCCCAATGAAGAACTCCTGAGAGCCCTCATTAGTAAGTTCAAAGGT
Celera SNP ID:            hCV1192251
SNP Position Transcript:  1237
SNP Source:               Applera
Population(Allele,Count): african american(A,16|C,4)   caucasian(A,18)   total(A,34|C,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 384, (D,GAC)   (A,GCC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|A,3)   total(A,3|C,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 384, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:10285):
AGAAACACACAATTTTGGACTGAATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACAACCGAAGCAGGCCCAAGA
Y
TGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCAGTGTAAAGG
Celera SNP ID:            hCV29127191
SNP Position Transcript:  885
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 267, (L,CTG)   (L,TTG)      



Context             (SEQ ID NO:10286):
AAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCA
R
TGAGGTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCT
Celera SNP ID:            hCV1192261
SNP Position Transcript:  583
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,5)   caucasian(A,32)   total(A,63|G,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 166, (N,AAT)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): Gaucasian(G,13|A,297)   Ghinese(G,8|A,52)   Japanese(G,3|A,17)   African(G,25|A,73)   no_pop(G,2|A,7)      total(G,2|A,7) ;JBIC-allele(G,347|A,1144)   total(G,347|A,1144)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 166, (S,AGT)   (N,AAT)      166, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10287):
CTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGG
Y
CTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAG
Celera SNP ID:            hCV1192262
SNP Position Transcript:  539
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,9)   caucasian(C,12|T,20)   total(C,39|T,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 151, (G,GGC)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,5)      total(C,5|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   JBIC-allele(T,462|C,1031)   total(C,1031|T,462) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 151, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:10288):
GTTCCCTAATCAGGAAAAAAAAAAAAAAAAAAAGTAAGACACAAACAAACCATTTTTTTTCTCTTTTTTTGGAGTTGGGGGCCCAGGGAGAAGGGACAAG
R
CTTTTAAAAGACTTGTTAGCCAACTTCAAGAATTAATATTTATGTCTCTGTTATTGTTAGTTTTAAGCCTTAAGGTAGAAGGCACATAGAAATAACATCT
Celera SNP ID:            hCV8934122
SNP Position Transcript:  3293
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1282, None   



Context             (SEQ ID NO:10289):
AAAATGTTTTTATTTGTATGAATTAAAAGATCCATGTTGAACATTTGCAAATATTTATTAATAAACAGATGTGGTGATAAACCCAAAACAAATGACAGGT
S
CTTATTTTCCACTAAACACAGACACATGAAATGAAAGTTTAGCTAGCCCACTATTTGTTGTAAATTGAAAACGAAGTGTGATAAAATAAATATGTAGAAA
Celera SNP ID:            hCV8934123
SNP Position Transcript:  3817
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1282, None   



Context             (SEQ ID NO:10290):
AGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAATTG
Y
AAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATTTACGACCCCAAATCAGGTCT
Celera SNP ID:            hCV1192256
SNP Position Transcript:  608
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,8)      total(C,3|T,8) ;JBIC-allele(C,360|T,1125)   total(C,360|T,1125)no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 174, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:10291):
GCCCAAGATTGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCA
S
TGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCTGAGGCTGTCAGAAACTTCCTGG
Celera SNP ID:            hCV22274712
SNP Position Transcript:  977
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,29)   caucasian(C,24|G,14)   total(C,31|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 297, (H,CAC)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,226|G,523)   total(G,523|C,226)no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 297, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10292):
AAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCAGTGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCAC
M
AGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAGAAAGAAGAGATCC
Celera SNP ID:            hCV11352700
SNP Position Transcript:  1019
SNP Source:               Applera
Population(Allele,Count): african american(A,7|C,31)   caucasian(A,1|C,39)   total(A,8|C,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 311, (T,ACA)   (T,ACC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,5)   total(A,1|C,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 311, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:10293):
AGAGTCCACTTCTCAGTGACTCCTAGCTGGGCACTGGATGCAGTTGAGGATTGCTGGTCAATATGATTCTTCTTGCTGTGCTTTTTCTCTGCTTCATTTC
S
TCATATTCAGCTTCTGTTAAAGGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTACTCCACTGAAGTTCTTCTTGATCGGG
Celera SNP ID:            hCV1192275
SNP Position Transcript:  125
SNP Source:               Applera
Population(Allele,Count): african american(C,30|G,6)   caucasian(C,39|G,1)   total(C,69|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 13, (S,TCC)   (S,TCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,3|C,4)   total(G,3|C,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 13, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:10294):
GTGTCTTTTTGAGACTGTAATATGGTACACTGTCCTCTAAGGGACATCCTCATTTTATCTCACCTTTTTGGGGGTGAGAGCTCTAGTTCATTTAACTGTA
M
TCTGCACAATAGCTAGGATGACTAAGAGAACATTGCTTCAAGAAACTGGTGGATTTGGATTTCCAAAATATGAAATAAGGAAAAAAATGTTTTTATTTGT
Celera SNP ID:            hCV29127199
SNP Position Transcript:  3633
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1282, None   



Context             (SEQ ID NO:10295):
AGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCTCAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAGGCAATTTGAG
W
AAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCAGGATGTGAATTCCCGCTCCATCAAGAGAACTC
Celera SNP ID:            hCV27863120
SNP Position Transcript:  2610
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 842, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:10296):
TGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCAGAGAGGAGA
S
AAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGG
Celera SNP ID:            hCV16195230
SNP Position Transcript:  380
SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,28)   caucasian(G,36)   total(C,6|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 98, (D,GAC)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,363|G,1126)   total(G,1126|C,363) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 98, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:10297):
GCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTGAAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACTGTGC
R
CACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAA
Celera SNP ID:            hCV27536741
SNP Position Transcript:  1705
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 540, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10298):
ACGTGGATGTGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCA
S
AGAGGAGAGAAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCC
Celera SNP ID:            hCV25616048
SNP Position Transcript:  371
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,36)   caucasian(C,1|G,35)   total(C,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 95, (H,CAC)   (Q,CAG)   



Context             (SEQ ID NO:10299):
TGGGGCAGGTCTTCCAGAGCCAGTGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGC
Y
GAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAGAAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATTAC
Celera SNP ID:            hCV25616057
SNP Position Transcript:  1055
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(C,5|T,35)   total(C,8|T,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1282, 323, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:10300):
CCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATATCAAA
R
TGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAAT
Celera SNP ID:            hCV25616049
SNP Position Transcript:  505
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,32)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 140, (N,AAT)   (S,AGT)   



Context             (SEQ ID NO:10301):
CAAGGATGAAGCTCCATTCAGGCAATTTGAGAAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCA
K
GATGTGAATTCCCGCTCCATCAAGAGAACTCAGAGATGTGCAAAGTGGTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGAAACTGACC
Celera SNP ID:            hCV27536646
SNP Position Transcript:  2679
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 865, (G,GGA)   (X,TGA)      



Context             (SEQ ID NO:10302):
GTTCAAAGGTTCTATTGGTAGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAGTTGTGTCAGAATGAAGGCTGCAAACTC
W
AAGCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCT
Celera SNP ID:            hCV27863117
SNP Position Transcript:  1428
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 448, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:10303):
GTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAATACATGCTCGCCATTGTTCAAGACATCCTACGTTTTGAAATGCCTGCAA
K
CAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGT
Celera SNP ID:            hCV27863118
SNP Position Transcript:  1855
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 590, (S,AGC)   (I,ATC)      



Context             (SEQ ID NO:10304):
ACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGATATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATCGTGAGTCTAAAACCCGAGTGAAA
W
ATAGGGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGCCTGGAAACCAGTACAGAAACAGAAGCAGGCTTGGAGTT
Celera SNP ID:            hCV27863119
SNP Position Transcript:  2424
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 780, (N,AAT)   (Y,TAT)      



Context             (SEQ ID NO:10305):
CAGAGAGGAGAGAAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAA
Y
CCATGGAAAGGTCAAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGC
Celera SNP ID:            hCV22274307
SNP Position Transcript:  469
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,22)   caucasian(C,10|T,26)   total(C,26|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 128, (T,ACC)   (I,ATC)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,244|T,1251)   total(C,244|T,1251) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 128, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:10306):
GTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAG
R
TAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATT
Celera SNP ID:            hCV25921533
SNP Position Transcript:  588
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,2|G,34)   total(A,2|G,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1282, 168, (I,ATA)   (V,GTA)   



Gene Number:                 228
Celera Gene:                 hCG37888 - 79000075689180
Celera Transcript:           hCT29123 - 79000075689181
Public Transcript Accession: NM_004975
Celera Protein:              hCP47839 - 197000069370530
Public Protein Accession:    NP_004966
Gene Symbol:                 KCNB1
Protein Name:                potassium voltage-gated channel, Shab-related subfamily, member 1;DRK1;KV2.1;h-DRK1
Celera Genomic Axis:         GA_x5YUV32VYHA(14801727..14913320)
Chromosome:                  Chr20
OMIM number:                 600397
OMIM Information:            POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;KCNB1


Transcript Sequence (SEQ ID NO:586):
GTCGGGATGGAGGTGAGAAGACGGCCGTGACGCGCGCCCGCGGGGCCCCCTGCACCCCCAGCAGCCCACAGCGCTCCCTGCCCCCCTCCCCCGCAGCAGC
GGGCCTTGCCGTCGAGTGACAGCGGCCTGGGGGGGCAGGGGGGGCGGGGGCGGCCGGATCAGCGATGCCGGCGGGCATGACGAAGCATGGCTCCCGCTCC
ACCAGCTCGCTGCCGCCCGAGCCCATGGAGATCGTGCGCAGCAAGGCGTGCTCTCGGCGGGTCCGCCTCAACGTCGGGGGGCTGGCGCACGAGGTACTCT
GGCGTACCCTGGACCGCCTGCCCCGCACGCGGCTGGGCAAGCTCCGCGACTGCAACACGCAYGACTCGCTGCTCGAGGTGTGCGATGACTACAGCCTCGA
CGACAACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATCYTCAACTTCTACCGCACTGGGCGACTGCACATGATGGAGGAGATGTGCGCG
CTCAGCTTCAGCCAAGAGCTCGACTACTGGGGCATCGACGAGATCTACCTGGAGTCCTGCTGCCAGGCCCGCTACCACCAGAAGAAAGAGCAGATGAACG
AGGAGCTCAAGCGTGAGGCCGAGACYCTACGGGAGCGGGAAGGCGAGGAGTTCGATAACACGTGCTGCGCAGAGAAGAGGAAAAAACTCTGGGACCTACT
GGAGAAGCCCAATTCCTCTGTGGCTGCCAAGATCCTTGCCATAATTTCCATCATGTTCATCGTCCTCTCCACCATTGCCCTGTCCCTCAACACGCTGCCT
GAGCTACAGAGCCTCGATGAGTTCGGCCAGTCCACAGACAACCCCCAGCTGGCCCACGTGGAGGCCGTGTGCATCGCATGGTTCACCATGGAGTACCTGC
TGAGGTTCCTCTCCTCGCCCAAGAAGTGGAAGTTCTTCAAGGGCCCACTCAATGCCATTGACTTGTTGGCCATTCTGCCATACTATGTCACCATTTTCCT
CACCGAATCCAACAAGAGCGTGCTGCAATTCCAGAATGTCCGCCGCGTGGTCCAGATCTTCCGCATCATGCGAATTCTCCGCATCCTTAAGCTTGCACGC
CACTCCACTGGCCTCCAGTCTCTGGGCTTCACTTTGCGGAGGAGCTACAATGAGTTGGGCTTGCTCATCCTCTTCCTTGCCATGGGCATTATGATCTTCT
CCAGCCTTGTCTTCTTTGCTGAGAAGGATGAGGACGACACCAAGTTCAAAAGCATCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGG
GTATGGAGACATCTACCCCAAGACTCTCCTGGGGAAAATTGTTGGGGGACTCTGCTGCATTGCAGGAGTCCTGGTGATTGCTCTTCCCATCCCCATCATC
GTCAATAACTTCTCTGAGTTCTATAAGGAGCAGAAGAGACAGGAGAAAGCAATCAAACGGCGAGAGGCTCTGGAGAGAGCCAAGAGGAATGGCAGCATCG
TATCCATGAACATGAAGGATGCTTTTGCCCGGAGCATTGAGATGATGGACATTGTGGTTGAGAAAAATGGGGAGAATATGGGTAAGAAAGACAAAGTACA
AGATAACCACTTGTCTCCTAACAAATGGAAATGGACAAAGAGGACACTGTCTGAAACCAGCTCAAGTAAGTCCTTTGAAACCAAGGAACAGGGATCCCCT
GAAAAAGCCAGATCGTCTTCTAGTCCTCAGCACCTGAACGTTCAGCAGTTGGAAGACATGTACAATAAGATGGCCAAGACCCAATCCCAACCCATCCTCA
ATACCAAGGAGTCAGCAGCACAGAGCAAACCAAAGGAAGAACTTGAAATGGAGAGTATCCCCAGCCCCGTAGCCCCTCTGCCCACTCGCACAGAAGGGGT
CATTGACATGCGAAGTATGTCAAGCATTGATAGTTTCATTAGCTGTGCCACAGACTTCCCTGAGGCCACCAGATTCTCCCACAGCCCTTTGACATCACTC
CCCAGCAAGABTGGGGGCAGCACAGCCCCAGAAGTGGGCTGGCGGGGAGCTCTGGGTGCCAGTGGTGGTAGGTTTGTGGAGGCCAACCCCAGCCCTGATG
CCAGCCAGCACTCTAGTTTCTTCATCGAGAGCCCCAAGAGTTCCATGAAAACTAACAACCCTTTGAAGCTCCGAGCACTTAAAGTCAACTTCATGGAGGG
TGACCCCAGTCCACTCCTCCCCGTTCTAGGGATGTACCATGACCCTCTCAGGAACCGGGGGAGTGCTGCGGCTGCTGTCGCTGGACTGGAGTGTGCCACG
CTTTTGGACAAGGCTGTGCTGAGCCCAGAGTCCTCCATCTACACCACAGCAAGTGCTAAGACACCCCCCCGGTCTCCTGAGAAACACACAGCAATAGCGT
TCAACTTTGAGGCGGGTGTCCACCAGTACATTGACGCAGACACAGATGATGAGGGACAGCTGCTCTACAGTGTGGACTCCAGCCCCCCCAAAAGCCTCCC
TGGGAGCACCAGTCCGAAGTTCAGCACGGGGACAAGATCGGAGAAAAACCACTTTGAAAGCTCCCCTTTACCCACCTCCCCTAAGTTCTTAAGGCAGAAC
TGTATTTACTCCACAGAAGCATTGACTGGAAAAGGCYCCAGTGGTCAGGAAAAGTGCAAACTTGAGAACCACATCTCCCCTGACGTCCGTGTGTTGCCAG
GGGGAGGAGCCCATGGAAGCACACGAGATCAGARCATCTGAACTGCCCTGCCTTGGAGGAGAGACTTTTGGGTGAGGTCCAAAGAGGAGAGCTGTTCAGC
TTACCTGCCACAGAGCTTTTCTGCATGAACTCTGGAACAGAAAGGCCCTGTAAAGCCCTCAGAGAGAAGAGAGACTCCAGAGAAGGCTCCCTAAGACCTT
GAGAGCCATGACAGGTCCATCAGCATGAAGTTGGCCAAGCCATAGGGCACAGCACCTCCTTGTAACAACTCTATAGCCCTCTTTGGGAGATGACATGAGT
GGAACTCACAGCCACCACTACCACCACTTTAGACAGGACCGAGGCCACATACTCCCCATTCTCTCGTGGCTTTCCATCTCAGCCTCGGAGGGCAACATTG
ACAGTCCTCCTGGCTTCAGCTAGAGAAGGATGCTGGAACAAGCGGCTGGTGTTGAAAGAGTGGGTTGACCAATTTGGTATTGAATGTTGCCCAGCCACCC
CTAGGAACACCTGTCCATCACCTCCTGGATGGATTCCACTGTTAGACAGCTACAGGGAATGATTGGTCATGGGGAAGTCTCTGCGCCATAAGCCACGATC
MCAGCGCAAAACCCTTACTCAAATGTCTTCATTGACTTCGGTATTTCATAGTACCYGAGATTTTWTTTTGAGATACCATCAGGGTGAGTTGCACCACTTG
TACTCAATTCTAATTGCCCCCTGGCAATCTGGGAAGGGTTCAGAAGGTGGGCACCCAGCCAACAGCATGAACTCAGAGCATTGTTTTAGGGTTGGAGGAG
GAACACGCTTTCTTTACATCACTAGTGTAGACTCAMAAGATATGCAAGTGTCAAATATGCAAAAGAAATAGTTTATTCAAAGAGACTGTGTGTTACTGAA
GAACAGCATAAAAATATGATTTTTTTACTTGCAAAAATGAAAGGAAAAAAATACCACGCRTTGAAATGCCCAGTTCAGACTGAATAATTCCTGCTGCAGC
AAGGAAAGTACCTACTATAATAGAAATTCTGTTTTGTTTTCTGTGGTTTTCAAGTTAAAAAAAAAAAAGTTAAAATAAAAAGCACTTTATGTTTTTCAAA
AATAGGTTCTGCCAGGGACAGTGTCAACATCTTGCACTTTAAAATAAGCACTATTTCCCATAGCCCAATTGTTGGGACTGTAGTTGGATTGTTGCTACCT
GCCCATTTCTGGCCAGCATGGGTAATATTGTGCTGGTATTACTGTCTGCCATATCAAAGTCTGTGGGCTCCTTCCCTGCCCCTCTGAAACCTTCCCTTAA
CCCTCATGGGTCAGGAGGGGTTCTTGCCCCTTGGGTGGGGCCTCTCATGAAGTCAAGTATACAGGAGACATGCACATCTCAAAAGGACACAGTGACAGTT
GGACATTGGGTGTTTTACTCTGTTCTCTTTCTTGTCAACCAGCTATTGGTTTTTCAGTGTCACTGTCTGTACTAAAAGCTCAACTCTCCTTCCTGCAGCC
ATCGATGCAGCCAGTACAGACAAAAGCAATAAGTATTTGTGTGCATCCTGAGTGGTTCTGGTGTATTTCTTGGTGTTGGTTTTCCTGTCCTCGTTTGATG
ACCTGGCATTGTCCTGCCTGCTTTTAGTCCAACAGCATGGTGTTGTTGGCCATTCCTCAGTACAGTGGCATTAGGTTGAACCACTGATGAATACAATGCT
ATAGTGTTGGCTCACCTGTCAGTAAAGATGACATGTTATTGGTCTGCCTGTCTGTAGTACAATGGAACAATGTTGTTCTCTTAATGTAATGTTGATGGAT
GATGTCCCAAGTACAATAGTGTAGTTCTGTCTATCCTCAATACAGTAACAGGCATATGTCTTCCCAGTGGAAGAAAGATATGGTATTGGTTCACCTAGTC
TTAAGTCTCAATATCATCTGTTGCTGGTCTGCCTGTTAGTACAATGGCATGATCCA

Protein Sequence    (SEQ ID NO:1283):
MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLLEVCDDYSLDDNEYFFDRHPGAFTSILNFYR
TGRLHMMEEMCALSFSQELDYWGIDEIYLESCCQARYHQKKEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIV
LSTIALSLNTLPELQSLDEFGQSTDNPQLAHVEAVCIAWFTMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFR
IMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTKFKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIA
GVLVIALPIPIIVNNFSEFYKEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQDNHLSPNKWKWTKRTLSETSS
SKSFETKEQGSPEKARSSSSPQHLNVQQLEDMYNKMAKTQSQPILNTKESAAQSKPKEELEMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPE
ATRFSHSPLTSLPSKTGGSTAPEVGWRGALGASGGRFVEANPSPDASQHSSFFIESPKSSMKTNNPLKLRALKVNFMEGDPSPLLPVLGMYHDPLRNRGS
AAAAVAGLECATLLDKAVLSPESSIYTTASAKTPPRSPEKHTAIAFNFEAGVHQYIDADTDDEGQLLYSVDSSPPKSLPGSTSPKFSTGTRSEKNHFESS
PLPTSPKFLRQNCIYSTEALTGKGPSGQEKCKLENHISPDVRVLPGGGAHGSTRDQSI


SNP Information

Context             (SEQ ID NO:10307):
CGAAGTATGTCAAGCATTGATAGTTTCATTAGCTGTGCCACAGACTTCCCTGAGGCCACCAGATTCTCCCACAGCCCTTTGACATCACTCCCCAGCAAGA
B
TGGGGGCAGCACAGCCCCAGAAGTGGGCTGGCGGGGAGCTCTGGGTGCCAGTGGTGGTAGGTTTGTGGAGGCCAACCCCAGCCCTGATGCCAGCCAGCAC
Celera SNP ID:            hCV16171906
SNP Position Transcript:  2011
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|G,2)   total(C,76|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1283, 616, (T,ACT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)   no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1283, 616, (T,ACT)   (S,AGT)      616, (S,AGT)   (I,ATT)      



Context             (SEQ ID NO:10308):
GGCCCCAGTGGTCAGGAAAAGTGCAAACTTGAGAACCACATCTCCCCTGACGTCCGTGTGTTGCCAGGGGGAGGAGCCCATGGAAGCACACGAGATCAGA
R
CATCTGAACTGCCCTGCCTTGGAGGAGAGACTTTTGGGTGAGGTCCAAAGAGGAGAGCTGTTCAGCTTACCTGCCACAGAGCTTTTCTGCATGAACTCTG
Celera SNP ID:            hCV25973347
SNP Position Transcript:  2734
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,1|G,37)   total(A,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1283, 857, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:10309):
CTGCAACACGCACGACTCGCTGCTCGAGGTGTGCGATGACTACAGCCTCGACGACAACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATC
Y
TCAACTTCTACCGCACTGGGCGACTGCACATGATGGAGGAGATGTGCGCGCTCAGCTTCAGCCAAGAGCTCGACTACTGGGGCATCGACGAGATCTACCT
Celera SNP ID:            hCV11194316
SNP Position Transcript:  450
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,9)   total(C,9|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1283, 96, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10310):
GGGTTCAGAAGGTGGGCACCCAGCCAACAGCATGAACTCAGAGCATTGTTTTAGGGTTGGAGGAGGAACACGCTTTCTTTACATCACTAGTGTAGACTCA
M
AAGATATGCAAGTGTCAAATATGCAAAAGAAATAGTTTATTCAAAGAGACTGTGTGTTACTGAAGAACAGCATAAAAATATGATTTTTTTACTTGCAAAA
Celera SNP ID:            hCV16269915
SNP Position Transcript:  3536
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1283, None   



Context             (SEQ ID NO:10311):
TCCGCCTCAACGTCGGGGGGCTGGCGCACGAGGTACTCTGGCGTACCCTGGACCGCCTGCCCCGCACGCGGCTGGGCAAGCTCCGCGACTGCAACACGCA
Y
GACTCGCTGCTCGAGGTGTGCGATGACTACAGCCTCGACGACAACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATCCTCAACTTCTACC
Celera SNP ID:            hCV1086071
SNP Position Transcript:  362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1283, 66, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:10312):
CTAGGAACACCTGTCCATCACCTCCTGGATGGATTCCACTGTTAGACAGCTACAGGGAATGATTGGTCATGGGGAAGTCTCTGCGCCATAAGCCACGATC
M
CAGCGCAAAACCCTTACTCAAATGTCTTCATTGACTTCGGTATTTCATAGTACCTGAGATTTTATTTTGAGATACCATCAGGGTGAGTTGCACCACTTGT
Celera SNP ID:            hCV11660774
SNP Position Transcript:  3301
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1283, None   



Context             (SEQ ID NO:10313):
GGTCATGGGGAAGTCTCTGCGCCATAAGCCACGATCCCAGCGCAAAACCCTTACTCAAATGTCTTCATTGACTTCGGTATTTCATAGTACCTGAGATTTT
W
TTTTGAGATACCATCAGGGTGAGTTGCACCACTTGTACTCAATTCTAATTGCCCCCTGGCAATCTGGGAAGGGTTCAGAAGGTGGGCACCCAGCCAACAG
Celera SNP ID:            hCV11660775
SNP Position Transcript:  3365
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1283, None   



Context             (SEQ ID NO:10314):
CAAAAGAAATAGTTTATTCAAAGAGACTGTGTGTTACTGAAGAACAGCATAAAAATATGATTTTTTTACTTGCAAAAATGAAAGGAAAAAAATACCACGC
R
TTGAAATGCCCAGTTCAGACTGAATAATTCCTGCTGCAGCAAGGAAAGTACCTACTATAATAGAAATTCTGTTTTGTTTTCTGTGGTTTTCAAGTTAAAA
Celera SNP ID:            hCV11660776
SNP Position Transcript:  3660
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1283, None   



Context             (SEQ ID NO:10315):
GGAATGATTGGTCATGGGGAAGTCTCTGCGCCATAAGCCACGATCCCAGCGCAAAACCCTTACTCAAATGTCTTCATTGACTTCGGTATTTCATAGTACC
Y
GAGATTTTATTTTGAGATACCATCAGGGTGAGTTGCACCACTTGTACTCAATTCTAATTGCCCCCTGGCAATCTGGGAAGGGTTCAGAAGGTGGGCACCC
Celera SNP ID:            hCV11194551
SNP Position Transcript:  3356
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,4)      total(C,2|T,4) ;JBIC-allele(C,521|T,972)   total(C,521|T,972)   no_pop(T,-|C,-)   SC_12_CT(C,9|T,27)   SC_12_T(C,8|T,16)   SC_12_TT(C,5|T,37)   total(C,22|T,80) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1283, None   



Context             (SEQ ID NO:10316):
ATCGGAGAAAAACCACTTTGAAAGCTCCCCTTTACCCACCTCCCCTAAGTTCTTAAGGCAGAACTGTATTTACTCCACAGAAGCATTGACTGGAAAAGGC
Y
CCAGTGGTCAGGAAAAGTGCAAACTTGAGAACCACATCTCCCCTGACGTCCGTGTGTTGCCAGGGGGAGGAGCCCATGGAAGCACACGAGATCAGAGCAT
Celera SNP ID:            hCV25972768
SNP Position Transcript:  2637
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,38|T,2)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1283, 825, (P,CCC)   (S,TCC)   



Context             (SEQ ID NO:10317):
ACTGGGGCATCGACGAGATCTACCTGGAGTCCTGCTGCCAGGCCCGCTACCACCAGAAGAAAGAGCAGATGAACGAGGAGCTCAAGCGTGAGGCCGAGAC
Y
CTACGGGAGCGGGAAGGCGAGGAGTTCGATAACACGTGCTGCGCAGAGAAGAGGAAAAAACTCTGGGACCTACTGGAGAAGCCCAATTCCTCTGTGGCTG
Celera SNP ID:            hCV7596029
SNP Position Transcript:  626
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1283, 154, (T,ACC)   (T,ACT)      



Gene Number:                 229
Celera Gene:                 hCG38011 - 104000117478669
Celera Transcript:           hCT29248 - 104000117478670
Public Transcript Accession: NM_000130
Celera Protein:              hCP47959 - 197000064933267
Public Protein Accession:    NP_000121
Gene Symbol:                 F5
Protein Name:                coagulation factor V (proaccelerin, labile factor);FVL;PCCF
Celera Genomic Axis:         GA_x5YUV32W2NG(7847942..7920351)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:587):
GAAAAAGCGGAGGGAGTGAGAGCCAGAGGCTGCTGCTGCCGTTTGCAAGAACTGCAGGGGAGGAGGACGCTGCCACCCACAGCCTCTAGAGCTCATTGCA
GCTGGGACAGCCCGGAGTGTGGTTAGCAGCTCGGCAAGCGCTGCCCAGGTCCTGGGGTGGTGGCAGCCAGCGGGAGCAGGAAAGGAAGCATGTTCCCAGG
CTGCCCACGCCTCTGGGTCCTGGTGGTCTTGRGCACCAGCTGGGTAGGCTGGGGGAGCCAAGGGACAGAAGCGGCACAGCTAAGGCAGTTCTACGTGGCT
GCTCAGGGCATCAGTTGGAGCTACCGACCTGAGCCCACAAACTCAAGTTTGAATCTTTCTGTAACTTCCTTTAAGAAAATTGTCTACAGAGAGTATGAAC
CATATTTTAAGAAAGAAAAACCACARTCTACCATTTCAGGACTTCTTGGGCCTACTTTATATGCTGAAGTCGGAGACATCATAAAAGTTCACTTTAAAAA
TAAGGCASATAAGCCCTTGAGCATCCATCCTCAAGGAATTAGGTACAGTAAATTATCAGAAGGTGCTTCTTACCTTGACCACACATTCCCTGCRGAGAAG
ATGGACGACGCTGTGGCTCCAGGCCGAGAATACACCTATGAATGGAGTATCAGTGAGGACAGTGGACCCACCCATGATGACCCTCCATGCCTCACACACA
TCTATTACTCCCATGAAAATCTGATCGAGGATTTCAACTCKGGGCTGATTGGSCCCCTGCTTATCTGTAAAAAAGGGACCCTAACTGAGGGTGGGACACA
GAAGACGTTTGACAAGCAAATCGTGCTACTATTTGCTGTGTTTGATGAAAGCAAGAGCTGGAGCCAGTCATCATCCCTAATGTACACAGTCAATGGATAT
GTGAATGGGACAATGCCAGATATAACAGTTTGTGYCCATGACCACATCAGCTGGCATCTGCTGGGAATGAGCTCGGGGCCAGAATTATTCTCCATTCATT
TCAACGGCCAGGTCCTGGAGCAGAACCATCATAAGGTCTCAGCCATCACCCTTGTCAGTGCTACATCCACTACCGCAAATATGACTGTGGGCCCAGAGGG
AAAGTGGATCATATCTTCTCTCACCCCAAAACATTTGCAAGCTGGGATGCAGGCTTACATTGACATTAAAAACTGCCCAAAGAAAACCRSGAATCTTAAG
WAAATAACTCGTGAGCAGAGGCGGCACATGAAGAGGTGGGAATACTTCATTGCTGCAGAGGAAGTCATTTGGGACTATGCACCTGTAATACCAGCGAATA
TGGACAAAAAATACAGGTCTCAGCATTTGGATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAGTTATGTACACACAGTACGAAGATGAGTCCTT
CACCAAACATACAGTGAATCCCAATAYGAARGAAGATGGGATTTTGGGTCCTATTATCAGAGCCCAGGTCAGAGACACACTCAAAATCGTGTTCAAAAAT
ATGGCCAGCCGCCCCTATAGCATTTACCCTCATGGAGTGACCTTCTCGCCTTATGAAGATGAAGTCAAYTCTTCTTTCACCTCAGGCAGGAACAACACCA
TGATCAGAGCAGTTCAACCAGGGGAAACCTATACTTATAAGTGGAACATCTTAGAGTTTGATGAACCCACAGAAAATGATGCCCAGTGCTTAACAAGACC
ATACTACAGTGACGTGGACATCATGARAGACATCGCCTCTGGGCTAATAGGACTACTTCTAATCTGTAAGAGCAGATCCCTGGACAGGYRAGGAATACAG
AGGGCAGCAGACATCGAACAGCAGGCTGTGTTTGCTGTGTTTGATGAGAACAAAAGCTGGTMCCTTGAGGACAACATCAACAAGTTTTGTGAAAATCCTG
ATGARGTGAAACGTGATGACCCCAAGTTTTATGAATCAAACATCATGAGCACTATCAATGGCTATGTGCCTGAGAGCATAACTACTCTTGGATTCTGCTT
TGATGACACTGTCCAGTGGCACTTCYGTAGTGTGGGGACCCAGAATGAAATTTTGACCATCCACTTCACTGGGCACTCATTCATCTATGGAAAGAGGCAT
GAGGACACCTTGACMCTCTTCCCCATGCGTGGAGAATCTGTGACGGTCACAATGGATAATGTTGGAACTTGGATGTTAACTTCCATGAATTCTAGTCCAA
GAAGCAAAAAGCTGAGGCTGAAATTCAGGGATGTTAAATGTATCCCAGATGATGATGAAGACTCATATGAGATTTTTGAACCTCCAGAATCTACAGTCAT
GGCTACACGGAAAATGCATGATCGTTTAGAACCTGAAGATGAAGAGAGTGATGCTGACTATGATTACCAGAACAGACTGGCTGCAGCATTAGGAATYAGG
TCATTCYGAAACTCATCATTGAAYCAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGARTTCGTTTCTTCRAACACAGATA
TAATTGTTGGTTCAAATTATTCTTCCCCAAGTAATATTAGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAGCCCCTTCTCACYAACAAGCCAC
CACAGCTGGTTCCYCACTGAGACACCTCATTGGCAAGAMCTCAGTTCTCAATTCTTCCACAGCAGAGCATTCCAGCCCATATTCTGAAGACCCTATAGAG
GATCCTCTACAGCCAGATGTCACAGGGATACGTCTACTTTCACTTGGTGCTGGAGAATTCARAAGTCAAGAACATGCTAAGCRTAAGGGACCCAAGGTAG
AAAGAGATCAAGCAGCAAAGCACAGGTTCTCCTGGATGAAATTACTAGCACATAAAGTTGGGAGACACCTAAGCCAAGACACTGGTTCTCCTTCCGGAAT
GAGGCCCTGGGAGGACCTTCCTAGCCAAGACACTGGTTCTCCTTCCAGAATGAGGCCCTGGRAGGACCCTCCTAGTGATCTGTTACTCTTAAAACAAAGT
AACTCATCTAAGATTTTGGTTGGGAGATGGCATTTGGCTTCTGAGAAAGGTAGCTATGAAATAATCCAAGATACTGATGAAGACACAGCTGTTARCAATT
GGCTGATCAGCCCCCAGAATGCCTCACGTGCTTGGGGAGAAAGCACCCCTCTTGCCAACAAGCCTGGAAAGCAGAGTGGCCACCCAAAGTTTCCTAGAGT
TAGACATAAATCTCTACAAGTAAGACAGGATGGAGGAAAGAGTAGACTGAAGAAAAGCCAGTTTCTCATTAAGACACGAAAAAAGAAAAAAGAGAAGCAC
ACACACCATGCTCCTTTATCTCCGAGGACCTTTCACCCTCTAAGAAGTGAAGCCTACAACACATTTTCAGAAAGAAGACTTAAGCATTCGTTGGTGCTTC
ATAAATCCAATGAAACATCTCTTCCCACAGACCTCAATCAGACRTTGCCCTCTATGGATTTTGGCTGGATAGCCTCACTTCCTGACCATAATCAGAATTC
CTCAAATGACACTGGTCAGGCAAGCTGTCCTCCAGGTCTTTATCAGACAGTGCCCCCAGAGGAACACTATCAAACATTCCCCATTCAAGACCCTGATCAA
ATGCACTCTACTTCAGACCCCAGTCASAGATCCTCTTCTCCAGAGCTCAGTGAAATGCTTGAGTATGACYGAAGTCACAAGTCCTTCCCCACAGATATAA
GTCAAATGTCCCCTTCCTCAGAACATGAAGTCTGGCAGACAGTCATCTCTCCAGACCTCAGCCAGGTGACYCTCTCTCCAGAACTCAGCCAGACAAACCT
CTCTCCAGACCTCAGCCACACGACTCTCTCTCCAGAACTCATTCAGAGAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCAT
ACAACCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTTTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCYCCAGCCC
TCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCMTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTC
TCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCRTACAACCCTTTCTCTAGACTTCAGCCAGACA
AACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACYCTTTCTCTAGACCTCA
GCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGACCTCAGTGAGATGCCCCTCTTTGCAGATCTCAGTCAAATTCCCCTTACCCC
AGACCTCGACCAGATGACACTTTCTCCAGACCTTGGTGAGACAGATCTTTCCCCAAACTTTGGTCAGATGTCCCTTTCCCCAGACCTCAGCCAGGTGACT
CTCTCTCCAGACATCAGTGACACCACCCTTCTCCCGGATCTCAGCCAGATATCACCTCCTCCAGACCTTGATCAGATATTCTACCCTTCTGAATCTAGTC
AGTCATTGCTTCTTCAAGAATTTAATGAGTCTTTTCCTTATCCAGACCTTGGTCAGATGCCATCTCCTTCATCTCCTACTCTCAATGATACTTTTCTATC
AAAGGAATTTAATCCACTGGTTATAGTGGGCCTCAGTAAAGATGGTACAGATTACATTGAGATCATTCCAAAGGAAGMGGTCCAGAGCAGTGAAGATGAC
TATGCTGAAATTGATTATGTGCCCTATGATGACCCCTACAAAACTGATGTTAGGACAAACATCAACTCCTCCAGAGATCCTGACAACATTGCAGCATGGT
ACCTCCGCAGCAACAATGGAAACAGAAGAAATTATTACATTGCTGCTGAAGAAATATCCTGGGATTATTCAGAATTTGTACAAAGGGAAACAGATATTGA
AGACTCTGATGATATTCCAGAAGATACCACATATAAGAAAGTAGTTTTTCGAAAGTACCTCGACAGCACTTTTACCAAACGTGATCCTCGAGGGGAGTAT
GAAGAGCATCTCGGAATTCTTGGTCCTATTATCAGAGCTGAAGTGGATGATGTTATCCAAGTTCGTTTTAAAAATTTAGCATCCAGACCGTATTCTCTAC
ATGCCCATGGRCTTTCCTATGAAAAATCATCAGAGGGAAAGASTTATGAAGATGACTCTCCTGAATGGTTTAAGGAAGATAATGCTGTTCAGCCAAATAG
CAGTTATACCTACGTATGGCATGCCACTGAGCGATCAGGGCCAGAAAGTCCTGGCTCTGCCTGTCGGGCTTGGGCCTRCTACTCAGCTGTGAACCCAGAA
AAAGATATTCACTCAGGCTTGATAGGTCCCCTCSTAATCTGCCAAAAAGGAATACTACATAAGGACAGCAACATGCCTRTGGACATGAGAGAATTTGTCT
TACTATTTATGACCTTTGATGAAAAGAAGAGCTGGTACTATGAAAAGAAGTCCCGAAGTTCTTGGAGACTCACATCCTCAGAAATGAAAAAATCCCATGA
GTTTCACGCCATTAATGGGATGATCTACAGCTTGCCTGGCCTGAAAATRTATGAGCAAGAGTGGGTGAGGTTACACCTGCTGAACATAGGCGGCTCCCAA
GACATTCACGTGGTTCACTTTCACGGCCAGACCTTGCTGGAAAATGGCAATAAACAGCACCAGTTAGGGGTCTGGCCCCTTCTGCCTGGTTCATTTAAAA
CTCTTGAAATGAAGGCATCAAAACCTGGCTGGTGGCTCCTAAACACAGAGGTTGGAGAAAACCAGAGAGCAGGGATGCAAACGCCATTTCTTATCATGGA
CAGAGACTGTAGGATGCCAATGGGACTAAGCACTGGTATCATATCTGATTCACAGATCAAGGCTTCAGAGTTTCTGGGTTACTGGGAGCCCAGATTAGCA
AGATTAAACAATGGTGGATCTTATAATGCTTGGAGTGTAGAAAAACTTGCAGCAGAATTTGCCTCTAAACCTTGGATCCAGGTGGACATGCAAAAGGAAG
TCATAATCACAGGGATCCAGACCCAAGGTGCCAAACACTACCTGAAGTCCTGCTATACCACAGAGTTCTATGTAGCTTACAGTTCCAACCAGATCAACTG
GCAGATCTTCAAAGGGAACAGCACAAGGAATGTGATGTATTTTAATGGCAATTCAGATGCCTCTACAATAAAAGAGAATCAGTTTGACCCACCTATTGTG
GCTAGATATATTAGGATCTCTCCAACTCGAGCCTATAACAGACCTACCCTTCGATTGGAACTGCAAGGTTGTGAGGTAAATGGATGTTCCACACCCCTGG
GTATGGAAAATGGAAAGATAGAAAACAAGCAAATCACAGCTTCTTCGTTTAAGAAATCTTGGTGGGGAGATTACTGGGAACCCTTCCGTGCCYRTCTRAA
TGCCCAGGGACGTGTGAATGCCTGGCAAGCCAAGGCAAACAACAATAAGCAGTGGCTAGAAATTGATCTACTCAAGATCAAGAAGATAACGGCAATTATA
ACACAGGGCTGCAAGTCTCTGTCCTCTGAAATGTATGTAAAGAGCTATACCATCCACTACAGTGAGCAGGGAGTGGAATGGAAACCATACAGGCTGAAAT
CCTCCATGGTGGACAAGATTTTTGAAGGAAATACTAATACCAAAGGACATGTGAAGAACTTTTTCAACCCCCCAATCATTTCCAGGTTTATCCGTGTCAT
TCCTAAAACATGGAATCAAAGTATTGCACTTCGCCTGGAACTCTTTGGCTGTGRTATTTACTAGAATTGAACATTCAAAAACCCCTGGAAGAGACTCTTT
AAGACCTCAAACCATTTAGAATGGGCAATGTATTTTACGCTGTGTTAAATGTTAACAGTTTTCCACTATTTCTCTTTCTTTTCTATTAGTGAATAAAATT
TTATACAAG

Protein Sequence    (SEQ ID NO:1284):
MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKV
HFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTE
GGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV
GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYE
DESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQC
LTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL
GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPE
STVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSH
QQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS
PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPK
FPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDH
NQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSH
MTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQI
PLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND
TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRE
TDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAV
QPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK
KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPF
LIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSN
QINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR
ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRF
IRVIPKTWNQSIALRLELFGCDIY


SNP Information

Context             (SEQ ID NO:10318):
ACTCTCAATGATACTTTTCTATCAAAGGAATTTAATCCACTGGTTATAGTGGGCCTCAGTAAAGATGGTACAGATTACATTGAGATCATTCCAAAGGAAG
M
GGTCCAGAGCAGTGAAGATGACTATGCTGAAATTGATTATGTGCCCTATGATGACCCCTACAAAACTGATGTTAGGACAAACATCAACTCCTCCAGAGAT
Celera SNP ID:            hCV11975237
SNP Position Transcript:  4778
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1530, (E,GAG)   (A,GCG)      



Context             (SEQ ID NO:10319):
GGCCCAGAGGGAAAGTGGATCATATCTTCTCTCACCCCAAAACATTTGCAAGCTGGGATGCAGGCTTACATTGACATTAAAAACTGCCCAAAGAAAACCA
S
GAATCTTAAGAAAATAACTCGTGAGCAGAGGCGGCACATGAAGAGGTGGGAATACTTCATTGCTGCAGAGGAAGTCATTTGGGACTATGCACCTGTAATA
Celera SNP ID:            hCV27531830
SNP Position Transcript:  1190
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 334, (T,ACG)   (R,AGG)      



Context             (SEQ ID NO:10320):
TCAGAGACACACTCAAAATCGTGTTCAAAAATATGGCCAGCCGCCCCTATAGCATTTACCCTCATGGAGTGACCTTCTCGCCTTATGAAGATGAAGTCAA
Y
TCTTCTTTCACCTCAGGCAGGAACAACACCATGATCAGAGCAGTTCAACCAGGGGAAACCTATACTTATAAGTGGAACATCTTAGAGTTTGATGAACCCA
Celera SNP ID:            hCV11975254
SNP Position Transcript:  1569
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,37|T,3)   total(C,73|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 460, (N,AAC)   (N,AAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 460, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:10321):
GACCTGAGCCCACAAACTCAAGTTTGAATCTTTCTGTAACTTCCTTTAAGAAAATTGTCTACAGAGAGTATGAACCATATTTTAAGAAAGAAAAACCACA
R
TCTACCATTTCAGGACTTCTTGGGCCTACTTTATATGCTGAAGTCGGAGACATCATAAAAGTTCACTTTAAAAATAAGGCAGATAAGCCCTTGAGCATCC
Celera SNP ID:            hCV8919464
SNP Position Transcript:  426
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,1)   caucasian(A,25|G,3)   total(A,56|G,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 79, (Q,CAA)   (Q,CAG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,10)      total(G,1|A,10) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 79, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:10322):
TGGCTGCAGCATTAGGAATCAGGTCATTCCGAAACTCATCATTGAATCAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGA
R
TTCGTTTCTTCAAACACAGATATAATTGTTGGTTCAAATTATTCTTCCCCAAGTAATATTAGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAG
Celera SNP ID:            hCV8919449
SNP Position Transcript:  2478
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,37|G,3)   total(A,71|G,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 763, (E,GAA)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,14)   caucasian(A,35|G,3)   total(A,49|G,3)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 763, (E,GAA)   (E,GAG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,9)      total(G,2|A,9) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,5|A,91)      total(G,5|A,91);no_pop(G,-|A,-)   WIAF-GSNP-P(1(G,11|A,97)   total(G,11|A,97)JBIC-allele(G,129|A,1360)   total(G,129|A,1360)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 763, (E,GAA)   (E,GAG)      763, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:10323):
TAAGAAAGAAAAACCACAATCTACCATTTCAGGACTTCTTGGGCCTACTTTATATGCTGAAGTCGGAGACATCATAAAAGTTCACTTTAAAAATAAGGCA
S
ATAAGCCCTTGAGCATCCATCCTCAAGGAATTAGGTACAGTAAATTATCAGAAGGTGCTTCTTACCTTGACCACACATTCCCTGCGGAGAAGATGGACGA
Celera SNP ID:            hCV11975273
SNP Position Transcript:  508
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,14)   caucasian(C,1|G,33)   total(C,3|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 107, (H,CAT)   (D,GAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,5|G,91)      total(G,91|C,5) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 107, (H,CAT)   (D,GAT)      



Context             (SEQ ID NO:10324):
ACGGAAAATGCATGATCGTTTAGAACCTGAAGATGAAGAGAGTGATGCTGACTATGATTACCAGAACAGACTGGCTGCAGCATTAGGAATCAGGTCATTC
Y
GAAACTCATCATTGAATCAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGAATTCGTTTCTTCAAACACAGATATAATTGT
Celera SNP ID:            hCV27541295
SNP Position Transcript:  2407
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 740, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:10325):
GTTTTATGAATCAAACATCATGAGCACTATCAATGGCTATGTGCCTGAGAGCATAACTACTCTTGGATTCTGCTTTGATGACACTGTCCAGTGGCACTTC
Y
GTAGTGTGGGGACCCAGAATGAAATTTTGACCATCCACTTCACTGGGCACTCATTCATCTATGGAAAGAGGCATGAGGACACCTTGACCCTCTTCCCCAT
Celera SNP ID:            hCV27540496
SNP Position Transcript:  2026
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 613, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10326):
AAAGTGGATCATATCTTCTCTCACCCCAAAACATTTGCAAGCTGGGATGCAGGCTTACATTGACATTAAAAACTGCCCAAAGAAAACCAGGAATCTTAAG
W
AAATAACTCGTGAGCAGAGGCGGCACATGAAGAGGTGGGAATACTTCATTGCTGCAGAGGAAGTCATTTGGGACTATGCACCTGTAATACCAGCGAATAT
Celera SNP ID:            hCV27536180
SNP Position Transcript:  1201
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 338, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:10327):
CTACTCAGCTGTGAACCCAGAAAAAGATATTCACTCAGGCTTGATAGGTCCCCTCCTAATCTGCCAAAAAGGAATACTACATAAGGACAGCAACATGCCT
R
TGGACATGAGAGAATTTGTCTTACTATTTATGACCTTTGATGAAAAGAAGAGCTGGTACTATGAAAAGAAGTCCCGAAGTTCTTGGAGACTCACATCCTC
Celera SNP ID:            hCV342590
SNP Position Transcript:  5479
SNP Source:               Applera
Population(Allele,Count): african american(A,29|G,5)   caucasian(A,30|G,8)   total(A,59|G,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1764, (M,ATG)   (V,GTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,12)      total(G,3|A,12) ;UNKNOWN(G,22|A,51)   Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)      total(G,22|A,51);no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1764, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10328):
ACCCCTGGGTATGGAAAATGGAAAGATAGAAAACAAGCAAATCACAGCTTCTTCGTTTAAGAAATCTTGGTGGGGAGATTACTGGGAACCCTTCCGTGCC
Y
GTCTGAATGCCCAGGGACGTGTGAATGCCTGGCAAGCCAAGGCAAACAACAATAAGCAGTGGCTAGAAATTGATCTACTCAAGATCAAGAAGATAACGGC
Celera SNP ID:            hCV27859214
SNP Position Transcript:  6493
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 2102, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10329):
GCTGTGTTTGATGAAAGCAAGAGCTGGAGCCAGTCATCATCCCTAATGTACACAGTCAATGGATATGTGAATGGGACAATGCCAGATATAACAGTTTGTG
Y
CCATGACCACATCAGCTGGCATCTGCTGGGAATGAGCTCGGGGCCAGAATTATTCTCCATTCATTTCAACGGCCAGGTCCTGGAGCAGAACCATCATAAG
Celera SNP ID:            hCV27861961
SNP Position Transcript:  935
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 249, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:10330):
CTTAACAAGACCATACTACAGTGACGTGGACATCATGAGAGACATCGCCTCTGGGCTAATAGGACTACTTCTAATCTGTAAGAGCAGATCCCTGGACAGG
Y
GAGGAATACAGAGGGCAGCAGACATCGAACAGCAGGCTGTGTTTGCTGTGTTTGATGAGAACAAAAGCTGGTACCTTGAGGACAACATCAACAAGTTTTG
Celera SNP ID:            hCV27861962
SNP Position Transcript:  1789
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 534, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:10331):
GATAATGCTGTTCAGCCAAATAGCAGTTATACCTACGTATGGCATGCCACTGAGCGATCAGGGCCAGAAAGTCCTGGCTCTGCCTGTCGGGCTTGGGCCT
R
CTACTCAGCTGTGAACCCAGAAAAAGATATTCACTCAGGCTTGATAGGTCCCCTCCTAATCTGCCAAAAAGGAATACTACATAAGGACAGCAACATGCCT
Celera SNP ID:            hCV27861963
SNP Position Transcript:  5378
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1730, (Y,TAC)   (C,TGC)      



Context             (SEQ ID NO:10332):
CTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCC
R
TACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGAC
Celera SNP ID:            hCV27859090
SNP Position Transcript:  4169
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1327, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10333):
AGTCCCGAAGTTCTTGGAGACTCACATCCTCAGAAATGAAAAAATCCCATGAGTTTCACGCCATTAATGGGATGATCTACAGCTTGCCTGGCCTGAAAAT
R
TATGAGCAAGAGTGGGTGAGGTTACACCTGCTGAACATAGGCGGCTCCCAAGACATTCACGTGGTTCACTTTCACGGCCAGACCTTGCTGGAAAATGGCA
Celera SNP ID:            hCV11975201
SNP Position Transcript:  5649
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1820, (I,ATA)   (M,ATG)      



Context             (SEQ ID NO:10334):
CCCCTGGGTATGGAAAATGGAAAGATAGAAAACAAGCAAATCACAGCTTCTTCGTTTAAGAAATCTTGGTGGGGAGATTACTGGGAACCCTTCCGTGCCC
R
TCTGAATGCCCAGGGACGTGTGAATGCCTGGCAAGCCAAGGCAAACAACAATAAGCAGTGGCTAGAAATTGATCTACTCAAGATCAAGAAGATAACGGCA
Celera SNP ID:            hCV27531172
SNP Position Transcript:  6494
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 2102, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10335):
ATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAGTTATGTACACACAGTACGAAGATGAGTCCTTCACCAAACATACAGTGAATCCCAATATGAA
R
GAAGATGGGATTTTGGGTCCTATTATCAGAGCCCAGGTCAGAGACACACTCAAAATCGTGTTCAAAAATATGGCCAGCCGCCCCTATAGCATTTACCCTC
Celera SNP ID:            hCV2229825
SNP Position Transcript:  1431
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,6|A,107)      total(G,6|A,107) ;no_pop(G,-|A,-)   Caucasian(G,10|A,70)   African-American(G,10|A,72)   no_pop(G,-|A,-)   Asians(G,3|A,79)   total(G,23|A,221)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 414, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:10336):
TTGGATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAGTTATGTACACACAGTACGAAGATGAGTCCTTCACCAAACATACAGTGAATCCCAATA
Y
GAAAGAAGATGGGATTTTGGGTCCTATTATCAGAGCCCAGGTCAGAGACACACTCAAAATCGTGTTCAAAAATATGGCCAGCCGCCCCTATAGCATTTAC
Celera SNP ID:            hCV2229826
SNP Position Transcript:  1427
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,6|T,107)      total(C,6|T,107) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 413, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10337):
GTCCTCCAGGTCTTTATCAGACAGTGCCCCCAGAGGAACACTATCAAACATTCCCCATTCAAGACCCTGATCAAATGCACTCTACTTCAGACCCCAGTCA
S
AGATCCTCTTCTCCAGAGCTCAGTGAAATGCTTGAGTATGACCGAAGTCACAAGTCCTTCCCCACAGATATAAGTCAAATGTCCCCTTCCTCAGAACATG
Celera SNP ID:            hCV11975241
SNP Position Transcript:  3627
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1146, (H,CAC)   (Q,CAG)      



Context             (SEQ ID NO:10338):
GTTTAGAACCTGAAGATGAAGAGAGTGATGCTGACTATGATTACCAGAACAGACTGGCTGCAGCATTAGGAATCAGGTCATTCCGAAACTCATCATTGAA
Y
CAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGAATTCGTTTCTTCAAACACAGATATAATTGTTGGTTCAAATTATTCTT
Celera SNP ID:            hCV8919450
SNP Position Transcript:  2424
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,29)   caucasian(C,8|T,32)   total(C,13|T,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 745, (N,AAC)   (N,AAT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(C,34|T,72)   total(C,34|T,72)   no_pop(T,-|C,-)   no_pop(C,-|T,-)   JBIC-allele(C,337|T,1154)   total(C,337|T,1154)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 745, (N,AAC)   (N,AAT)      745, (N,AAT)   (N,AAC)      



Context             (SEQ ID NO:10339):
TCATGGCTACACGGAAAATGCATGATCGTTTAGAACCTGAAGATGAAGAGAGTGATGCTGACTATGATTACCAGAACAGACTGGCTGCAGCATTAGGAAT
Y
AGGTCATTCCGAAACTCATCATTGAATCAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGAATTCGTTTCTTCAAACACAG
Celera SNP ID:            hCV8919451
SNP Position Transcript:  2397
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,5)   caucasian(C,32|T,8)   total(C,59|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 736, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,5|C,90)      total(C,90|T,5) ;WIAF-CSNP-P(1(T,11|C,95)   total(C,95|T,11)   no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 736, (I,ATC)   (I,ATT)      736, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:10340):
GAAGTGAAGCCTACAACACATTTTCAGAAAGAAGACTTAAGCATTCGTTGGTGCTTCATAAATCCAATGAAACATCTCTTCCCACAGACCTCAATCAGAC
R
TTGCCCTCTATGGATTTTGGCTGGATAGCCTCACTTCCTGACCATAATCAGAATTCCTCAAATGACACTGGTCAGGCAAGCTGTCCTCCAGGTCTTTATC
Celera SNP ID:            hCV11975242
SNP Position Transcript:  3444
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 1085, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:10341):
AAATTATTCTTCCCCAAGTAATATTAGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAGCCCCTTCTCACCAACAAGCCACCACAGCTGGTTCC
Y
CACTGAGACACCTCATTGGCAAGAACTCAGTTCTCAATTCTTCCACAGCAGAGCATTCCAGCCCATATTCTGAAGACCCTATAGAGGATCCTCTACAGCC
Celera SNP ID:            hCV11975243
SNP Position Transcript:  2614
SNP Source:               Applera
Population(Allele,Count): african american(C,20|T,4)   caucasian(C,38)   total(C,58|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 809, (P,CCA)   (S,TCA)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,-|C,-)    ;WIAF-CSNP-P(1(T,3|C,105)   total(C,105|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 809, (P,CCA)   (S,TCA)      



Context             (SEQ ID NO:10342):
AGTGGCACTTCTGTAGTGTGGGGACCCAGAATGAAATTTTGACCATCCACTTCACTGGGCACTCATTCATCTATGGAAAGAGGCATGAGGACACCTTGAC
M
CTCTTCCCCATGCGTGGAGAATCTGTGACGGTCACAATGGATAATGTTGGAACTTGGATGTTAACTTCCATGAATTCTAGTCCAAGAAGCAAAAAGCTGA
Celera SNP ID:            hCV11975244
SNP Position Transcript:  2115
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(A,3|C,37)   total(A,3|C,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 642, (T,ACA)   (T,ACC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 642, (T,ACA)   (T,ACC)      



Context             (SEQ ID NO:10343):
AATGGAGTATCAGTGAGGACAGTGGACCCACCCATGATGACCCTCCATGCCTCACACACATCTATTACTCCCATGAAAATCTGATCGAGGATTTCAACTC
K
GGGCTGATTGGGCCCCTGCTTATCTGTAAAAAAGGGACCCTAACTGAGGGTGGGACACAGAAGACGTTTGACAAGCAAATCGTGCTACTATTTGCTGTGT
Celera SNP ID:            hCV11975261
SNP Position Transcript:  741
SNP Source:               Applera
Population(Allele,Count): african american(G,12|T,22)   caucasian(G,30|T,8)   total(G,42|T,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 184, (S,TCG)   (S,TCT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(T,5|G,85)      total(G,85|T,5) ;WIAF-CSNP-P(1(T,10|G,90)   total(G,90|T,10)no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 184, (S,TCG)   (S,TCT)      184, (S,TCT)   (S,TCG)      



Context             (SEQ ID NO:10344):
CAGCAGACATCGAACAGCAGGCTGTGTTTGCTGTGTTTGATGAGAACAAAAGCTGGTACCTTGAGGACAACATCAACAAGTTTTGTGAAAATCCTGATGA
R
GTGAAACGTGATGACCCCAAGTTTTATGAATCAAACATCATGAGCACTATCAATGGCTATGTGCCTGAGAGCATAACTACTCTTGGATTCTGCTTTGATG
Celera SNP ID:            hCV11975246
SNP Position Transcript:  1905
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,37)   total(A,3|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 572, (E,GAA)   (E,GAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,6|G,107)      total(G,107|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 572, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:10345):
TTAAAAATAAGGCAGATAAGCCCTTGAGCATCCATCCTCAAGGAATTAGGTACAGTAAATTATCAGAAGGTGCTTCTTACCTTGACCACACATTCCCTGC
R
GAGAAGATGGACGACGCTGTGGCTCCAGGCCGAGAATACACCTATGAATGGAGTATCAGTGAGGACAGTGGACCCACCCATGATGACCCTCCATGCCTCA
Celera SNP ID:            hCV11975262
SNP Position Transcript:  594
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,13)   caucasian(A,7|G,31)   total(A,26|G,44)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 135, (A,GCA)   (A,GCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,85)      total(G,85|A,5) ;no_pop(A,-|G,-)   WIAF-CSNP-P(1(A,10|G,90)   total(G,90|A,10) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 135, (A,GCA)   (A,GCG)      135, (A,GCG)   (A,GCA)      



Context             (SEQ ID NO:10346):
GTGAGGACAGTGGACCCACCCATGATGACCCTCCATGCCTCACACACATCTATTACTCCCATGAAAATCTGATCGAGGATTTCAACTCGGGGCTGATTGG
S
CCCCTGCTTATCTGTAAAAAAGGGACCCTAACTGAGGGTGGGACACAGAAGACGTTTGACAAGCAAATCGTGCTACTATTTGCTGTGTTTGATGAAAGCA
Celera SNP ID:            hCV8919457
SNP Position Transcript:  753
SNP Source:               Applera
Population(Allele,Count): african american(C,3|G,33)   caucasian(G,38)   total(C,3|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 188, (G,GGC)   (G,GGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|G,7)      total(G,7|C,1) ;no_pop(G,-|C,-)   ;no_pop(G,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 188, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:10347):
CAAAGTAACTCATCTAAGATTTTGGTTGGGAGATGGCATTTGGCTTCTGAGAAAGGTAGCTATGAAATAATCCAAGATACTGATGAAGACACAGCTGTTA
R
CAATTGGCTGATCAGCCCCCAGAATGCCTCACGTGCTTGGGGAGAAAGCACCCCTCTTGCCAACAAGCCTGGAAAGCAGAGTGGCCACCCAAAGTTTCCT
Celera SNP ID:            hCV25617187
SNP Position Transcript:  3095
SNP Source:               Applera
Population(Allele,Count): african american(A,28|G,2)   caucasian(A,36)   total(A,64|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 969, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:10348):
AAGAACTTTTTCAACCCCCCAATCATTTCCAGGTTTATCCGTGTCATTCCTAAAACATGGAATCAAAGTATTGCACTTCGCCTGGAACTCTTTGGCTGTG
R
TATTTACTAGAATTGAACATTCAAAAACCCCTGGAAGAGACTCTTTAAGACCTCAAACCATTTAGAATGGGCAATGTATTTTACGCTGTGTTAAATGTTA
Celera SNP ID:            hCV11975197
SNP Position Transcript:  6854
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,32|G,2)   total(A,66|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 2222, (D,GAT)   (G,GGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)   ;no_pop(A,-|G,-)   WIAF-CSNP-P(1(G,3|A,105)   total(G,3|A,105) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 2222, (D,GAT)   (G,GGT)      2222, (G,GGT)   (D,GAT)      



Context             (SEQ ID NO:10349):
CGGCAAGCGCTGCCCAGGTCCTGGGGTGGTGGCAGCCAGCGGGAGCAGGAAAGGAAGCATGTTCCCAGGCTGCCCACGCCTCTGGGTCCTGGTGGTCTTG
R
GCACCAGCTGGGTAGGCTGGGGGAGCCAAGGGACAGAAGCGGCACAGCTAAGGCAGTTCTACGTGGCTGCTCAGGGCATCAGTTGGAGCTACCGACCTGA
Celera SNP ID:            hCV25617200
SNP Position Transcript:  232
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,29)   caucasian(G,38)   total(A,3|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 15, (S,AGC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(G,40)   total(A,3|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 15, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:10350):
TGGGTATGGAAAATGGAAAGATAGAAAACAAGCAAATCACAGCTTCTTCGTTTAAGAAATCTTGGTGGGGAGATTACTGGGAACCCTTCCGTGCCCGTCT
R
AATGCCCAGGGACGTGTGAATGCCTGGCAAGCCAAGGCAAACAACAATAAGCAGTGGCTAGAAATTGATCTACTCAAGATCAAGAAGATAACGGCAATTA
Celera SNP ID:            hCV25617201
SNP Position Transcript:  6498
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,1|G,39)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 2103, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:10351):
TCAGCCATACAACCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTTTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTC
Y
CCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGA
Celera SNP ID:            hCV11342050
SNP Position Transcript:  3993
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,7)      total(C,1|T,7) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 1268, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:10352):
GGGCCCAGAGGGAAAGTGGATCATATCTTCTCTCACCCCAAAACATTTGCAAGCTGGGATGCAGGCTTACATTGACATTAAAAACTGCCCAAAGAAAACC
R
GGAATCTTAAGAAAATAACTCGTGAGCAGAGGCGGCACATGAAGAGGTGGGAATACTTCATTGCTGCAGAGGAAGTCATTTGGGACTATGCACCTGTAAT
Celera SNP ID:            hCV27529390
SNP Position Transcript:  1189
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 334, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10353):
AAACACAGATATAATTGTTGGTTCAAATTATTCTTCCCCAAGTAATATTAGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAGCCCCTTCTCAC
Y
AACAAGCCACCACAGCTGGTTCCCCACTGAGACACCTCATTGGCAAGAACTCAGTTCTCAATTCTTCCACAGCAGAGCATTCCAGCCCATATTCTGAAGA
Celera SNP ID:            hCV27531094
SNP Position Transcript:  2590
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 801, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:10354):
TCAAACATTCCCCATTCAAGACCCTGATCAAATGCACTCTACTTCAGACCCCAGTCACAGATCCTCTTCTCCAGAGCTCAGTGAAATGCTTGAGTATGAC
Y
GAAGTCACAAGTCCTTCCCCACAGATATAAGTCAAATGTCCCCTTCCTCAGAACATGAAGTCTGGCAGACAGTCATCTCTCCAGACCTCAGCCAGGTGAC
Celera SNP ID:            hCV27540523
SNP Position Transcript:  3670
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1161, (R,CGA)   (X,TGA)      



Context             (SEQ ID NO:10355):
GAGACACCTAAGCCAAGACACTGGTTCTCCTTCCGGAATGAGGCCCTGGGAGGACCTTCCTAGCCAAGACACTGGTTCTCCTTCCAGAATGAGGCCCTGG
R
AGGACCCTCCTAGTGATCTGTTACTCTTAAAACAAAGTAACTCATCTAAGATTTTGGTTGGGAGATGGCATTTGGCTTCTGAGAAAGGTAGCTATGAAAT
Celera SNP ID:            hCV8919441
SNP Position Transcript:  2962
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,5|G,91)      total(G,91|A,5) ;no_pop(G,-|A,-)   WIAF-CSNP-P(1(A,11|G,97)   total(G,97|A,11)JBIG-allele(G,350|A,1125)   total(G,350|A,1125)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 925, (K,AAG)   (E,GAG)      925, (E,GAG)   (K,AAG)      



Context             (SEQ ID NO:10356):
TCTGAAGACCCTATAGAGGATCCTCTACAGCCAGATGTCACAGGGATACGTCTACTTTCACTTGGTGCTGGAGAATTCAAAAGTCAAGAACATGCTAAGC
R
TAAGGGACCCAAGGTAGAAAGAGATCAAGCAGCAAAGCACAGGTTCTCCTGGATGAAATTACTAGCACATAAAGTTGGGAGACACCTAAGCCAAGACACT
Celera SNP ID:            hCV8919442
SNP Position Transcript:  2783
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,1)   caucasian(A,25|G,3)   total(A,44|G,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 865, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)   JBIG-allele(G,350|A,1141)   total(G,350|A,1141)   WIAF-CSNP-P(1(G,34|A,72)   total(G,34|A,72) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 865, (H,CAT)   (R,CGT)      865, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:10357):
TTAACAAGACCATACTACAGTGACGTGGACATCATGAGAGACATCGCCTCTGGGCTAATAGGACTACTTCTAATCTGTAAGAGCAGATCCCTGGACAGGC
R
AGGAATACAGAGGGCAGCAGACATCGAACAGCAGGCTGTGTTTGCTGTGTTTGATGAGAACAAAAGCTGGTACCTTGAGGACAACATCAACAAGTTTTGT
Celera SNP ID:            hCV11975250
SNP Position Transcript:  1790
SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)   |utch(A,12|G,589)   Caucasians(G,-|A,-)      total(G,589|A,12) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 534, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:10358):
AGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACC
M
TTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCA
Celera SNP ID:            hCV27242842
SNP Position Transcript:  4042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1285, (I,ATT)   (L,CTT)      



Context             (SEQ ID NO:10359):
ATCAGGGCCAGAAAGTCCTGGCTCTGCCTGTCGGGCTTGGGCCTACTACTCAGCTGTGAACCCAGAAAAAGATATTCACTCAGGCTTGATAGGTCCCCTC
S
TAATCTGCCAAAAAGGAATACTACATAAGGACAGCAACATGCCTATGGACATGAGAGAATTTGTCTTACTATTTATGACCTTTGATGAAAAGAAGAGCTG
Celera SNP ID:            hCV11975233
SNP Position Transcript:  5434
SNP Source:               HGBASE
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1749, (L,CTA)   (V,GTA)      



Context             (SEQ ID NO:10360):
GCAGAGCATTCCAGCCCATATTCTGAAGACCCTATAGAGGATCCTCTACAGCCAGATGTCACAGGGATACGTCTACTTTCACTTGGTGCTGGAGAATTCA
R
AAGTCAAGAACATGCTAAGCATAAGGGACCCAAGGTAGAAAGAGATCAAGCAGCAAAGCACAGGTTCTCCTGGATGAAATTACTAGCACATAAAGTTGGG
Celera SNP ID:            hCV8919444
SNP Position Transcript:  2762
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(G,-|A,-)   WIAF-CSNP-P(1(G,34|A,70)   total(G,34|A,70)JBIG-allele(G,156|A,593)   total(G,156|A,593)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 858, (K,AAA)   (R,AGA)      858, (R,AGA)   (K,AAA)      



Context             (SEQ ID NO:10361):
GAAGTCACAAGTCCTTCCCCACAGATATAAGTCAAATGTCCCCTTCCTCAGAACATGAAGTCTGGCAGACAGTCATCTCTCCAGACCTCAGCCAGGTGAC
Y
CTCTCTCCAGAACTCAGCCAGACAAACCTCTCTCCAGACCTCAGCCACACGACTCTCTCTCCAGAACTCATTCAGAGAAACCTTTCCCCAGCCCTCGGTC
Celera SNP ID:            hCV27242843
SNP Position Transcript:  3771
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 1194, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10362):
ACCTATACTTATAAGTGGAACATCTTAGAGTTTGATGAACCCACAGAAAATGATGCCCAGTGCTTAACAAGACCATACTACAGTGACGTGGACATCATGA
R
AGACATCGCCTCTGGGCTAATAGGACTACTTCTAATCTGTAAGAGCAGATCCCTGGACAGGCGAGGAATACAGAGGGCAGCAGACATCGAACAGCAGGCT
Celera SNP ID:            hCV11975251
SNP Position Transcript:  1727
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,18)   caucasian(G,2)   total(A,6|G,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 513, (K,AAA)   (R,AGA)   

SNP Source:               HGBASE;HGMD;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 513, (K,AAA)   (R,AGA)      



Context             (SEQ ID NO:10363):
AGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAGCCCCTTCTCACCAACAAGCCACCACAGCTGGTTCCCCACTGAGACACCTCATTGGCAAGA
M
CTCAGTTCTCAATTCTTCCACAGCAGAGCATTCCAGCCCATATTCTGAAGACCCTATAGAGGATCCTCTACAGCCAGATGTCACAGGGATACGTCTACTT
Celera SNP ID:            hCV8919445
SNP Position Transcript:  2639
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,35|C,3)   total(A,61|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 817, (N,AAC)   (T,ACC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,2|A,9)      total(A,9|C,2) ;Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,5|A,91)      total(A,91|C,5);no_pop(C,-|A,-)   no_pop(A,-|C,-)   WIAF-CSNP-P(1(C,11|A,97)   total(C,11|A,97) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 817, (N,AAC)   (T,ACC)      817, (T,ACC)   (N,AAC)      



Context             (SEQ ID NO:10364):
GTGGATGATGTTATCCAAGTTCGTTTTAAAAATTTAGCATCCAGACCGTATTCTCTACATGCCCATGGACTTTCCTATGAAAAATCATCAGAGGGAAAGA
S
TTATGAAGATGACTCTCCTGAATGGTTTAAGGAAGATAATGCTGTTCAGCCAAATAGCAGTTATACCTACGTATGGCATGCCACTGAGCGATCAGGGCCA
Celera SNP ID:            hCV11975235
SNP Position Transcript:  5243
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 1685, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:10365):
TAGGAATCAGGTCATTCCGAAACTCATCATTGAATCAGGAAGAAGAAGAGTTCAATCTTACTGCCCTAGCTCTGGAGAATGGCACTGAATTCGTTTCTTC
R
AACACAGATATAATTGTTGGTTCAAATTATTCTTCCCCAAGTAATATTAGTAAGTTCACTGTCAATAACCTTGCAGAACCTCAGAAAGCCCCTTCTCACC
Celera SNP ID:            hCV8919446
SNP Position Transcript:  2490
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,4)   caucasian(A,30|G,8)   total(A,56|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 767, (S,TCA)   (S,TCG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(G,-|A,-)    ;no_pop(A,-|G,-)   WIAF-CSNP-P(1(G,34|A,72)   total(G,34|A,72)no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 767, (S,TCA)   (S,TCG)      767, (S,TCG)   (S,TCA)      



Context             (SEQ ID NO:10366):
TAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAAC
Y
CTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGACCTCAGTGAGATGCCCCTCTTTGCAGATCTCAGTC
Celera SNP ID:            hCV2481742
SNP Position Transcript:  4284
SNP Source:               Celera
Population(Allele,Count): no_pop(C,3|T,4)   total(C,3|T,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 1365, (T,ACC)   (T,ACT)      



Context             (SEQ ID NO:10367):
TCGGAATTCTTGGTCCTATTATCAGAGCTGAAGTGGATGATGTTATCCAAGTTCGTTTTAAAAATTTAGCATCCAGACCGTATTCTCTACATGCCCATGG
R
CTTTCCTATGAAAAATCATCAGAGGGAAAGACTTATGAAGATGACTCTCCTGAATGGTTTAAGGAAGATAATGCTGTTCAGCCAAATAGCAGTTATACCT
Celera SNP ID:            hCV11975236
SNP Position Transcript:  5211
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1284, 1674, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:10368):
ATCTGTAAGAGCAGATCCCTGGACAGGCGAGGAATACAGAGGGCAGCAGACATCGAACAGCAGGCTGTGTTTGCTGTGTTTGATGAGAACAAAAGCTGGT
M
CCTTGAGGACAACATCAACAAGTTTTGTGAAAATCCTGATGAGGTGAAACGTGATGACCCCAAGTTTTATGAATCAAACATCATGAGCACTATCAATGGC
Celera SNP ID:            hCV27859913
SNP Position Transcript:  1862
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1284, 558, (Y,TAC)   (S,TCC)      



Gene Number:                 230
Celera Gene:                 hCG38088 - 30000023637322
Celera Transcript:           hCT29325 - 30000023637323
Public Transcript Accession: NM_003719
Celera Protein:              hCP48023 - 30000023637413
Public Protein Accession:    NP_003710
Gene Symbol:                 PDE8B
Protein Name:                phosphodiesterase 8B
Celera Genomic Axis:         GA_x5YUV32W40L(5800790..6018455)
Chromosome:                  Chr5
OMIM number:                 603390
OMIM Information:            PHOSPHODIESTERASE 8B;PDE8B


Transcript Sequence (SEQ ID NO:588):
GCGGCCGCGGGCGCGGGCGGGCGCGCGGGGGAGCCCGGCCGAGGGATGGGCTGCGCCCCCAGCATCCATGTCTCGCAGAGCGGCGTGATCTACTGCCGGG
ACTCGGACGAGTCCAGCTCGCCCCGCCAGACCACCAGCGTGTCGCAGGGCCCGGCGGCACCCCTGCCCGGCCTCTTCGTCCAGACCGACGCCGCCGACGC
CATCCCCCCGAGCCGCGCGTCGGGACCCCCCAGCGTAGCCCGCGTCCGCAGGGCCCGCACCGAGCTGGGCAGCGGTAGCAGCGCGGGTTCCGCAGCCCCC
GCCGCGACCACCAGCAGGGGCYGGAGGCGCCACTGCTGCAGCAGCGCCGAGGCCGAGACTCAGACCTGCTACACCAGCGTGAAGCAGGTGTCTTCTGCGG
AGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTTTTGCTGATCTTTGCAAAGGAAGATAGTCAGAGCGATGGCTTCTGGTGGGCCTG
CGACAGAGCTGGTTATAGATGCAATATTGCTCGGACTCCAGAGTCAGCCCTTGAATGCTTTCTTGATAAGCATCATGAAATTATTGTAATTGATCATAGA
CAAACTCAGAACTTCGATGCAGAAGCAGTGTGCAGGTCGATCCGGGCCACAAATCCCTCCGAGCACACGGTGATCCTCGCAGTGGTTTCGCGAGTATCGG
ATGACCATGAAGAGGCGTCAGTCCTTCCTCTTCTCCACGCAGGCTTCAACAGGAGATTTATGGAGAATAGCAGCATAATTGCTTGCTATAATGAACTGAT
TCAAATAGAACATGGGGAAGTTCGCTCCCAGTTCAAATTACGGGCCTGTAATTCAGTGTTTACAGCATTAGATCACTGTCATGAAGCCATAGAAATAACA
AGCGATGACCACGTGATTCAGATTCACAAGATTCATCGTGATTCAGGAGACAATTCTCAGACAGAGCCTCATTCATTCAGATATAAGAACAGGAGGAAAG
AGTCCATTGACGTGAAATCGATATCATCTCGAGGCARTGATGCACCAAGCCTGCAGAATCGTCGCTATCCGTCCATGGCGAGGATCCACTCCATGACCAT
CGAGGCTCCCATCACAAAGGTTATAAATATAATCAATGCAGCCCAAGAAAACAGCCCAGTCACAGTAGCGGAAGCCTTGGACAGAGTTCTAGAGATTTTA
CGGACCACAGAACTGTACTCCCCTCAGCTGGGTACCAAAGATGAAGATCCCCACACCAGTGATCTTYTTGGAGGCCTGATGACTGACGGCTTGAGAAGAC
TGTCAGGAAACGAGTATGTGTTTACTAAGAATGTGCACCAGAGTCACAGTCACCTTGCAATGCCAATAACCATCAATGATGTTCCCCCTTGTATCTCTCA
ATTACTTGATAATGAGGAGAGTTGGGACTTCAACATCTTTGAATTGGAAGCCATTACGCATAAAAGGCCATTGGTTTATCTGGGCTTAAAGGTCTTCTCT
CGGTTTGGAGTATGTGAGTTTTTAAACTGTTCTRAAACCACTCTTCGGGCCTGGTTCCAAGTGATCGAAGCCAACTACCACTCTTCCAATGCCTACCACA
ACTCCACCCATGCTGCCGACGTCCTGCACGCCACCGCTTTCTTTCTTGGAAAGGAAAGAGTAAAGGGAAGCCTCGATCAGTTGGATGAGGTGGCAGCCCT
CATTGCTGCCACAGTCCATGACGTGGATCACCCGGGAAGGACCAACTCTTTCCTCTGCAATGCAGGCAGTGAGCTTGCTGTGCTCTACAATGACACTGCT
GTTCTGGAGAGTCACCACACCGCCCTGGCCTTCCAGCTCACGGTCAAGGACACCAAATGCAACATTTTCAAGAATATTGACAGGAACCATTATCGAACGC
TGCGCCAGGCTATTATTGACATGGTTTTGGCAACAGAGATGACAAAACACTTTGAACATGTGAATAAGTTTGTGAACAGCATCAACAAGCCAATGGCAGC
TGAGATTGAAGGCAGCGACTGTGAATGCAACCCTGCTGGGAAGAACTTCCCTGAAAACCAAATCCTGATCAAACGCATGATGATTAAGTGTGCTGACGTG
GCCAACCCATGCCGCCCCTTGGACCTGTGCATTGAATGGGCTGGGAGGATCTCTGAGGAGTATTTTGCACAGACTGATGAAGAGAAGAGACAGGGACTAC
CTGTGGTGATGCCAGTGTTTGACCGGAATACCTGTAGCATCCCCAAGTCTCAGATCTCTTTCATTGACTACTTCATAACAGACATGTTTGATGCTTGGGA
TGCCTTTGCACATCTGCCAGCCCTGATGCAACATTTGGCTGACAACTACAAACACTGGAAGACACTAGATGACCTAAAGTGCAAAAGTTTGRGGCTTCCA
TCTGACAGCTAAAGCCAAGCCACAGAGGGGGCCTCTTGACCGACAAAGGACACTGTGAATCACAGTAGCGTAAACAAGAGGCCTTCCTTTYRAATGACAA
TGACAGGTATTGGTGAAGGAGCTAATGTTTAATATTTGACCTTGAATCATTCAAGTCCCCAAATTTCATTCTTAGAAAGTTATGTTCCATGAAGAAAAAT
ATATGTTCTTTTGAATACTTAATGACAGAACAAATACTTGGCAAACTCCTTTGCTCTGCTGTCATCCTGTGTACCCTTGTCAATCCATGGAGCTGGTTCA
CTGTAACTAGCAGGCCACAGGAAGCAAAGCCTTGGTGCCTGTGAGCTCATCTCCCAGGATGGTGACTAAGTAGCTTAGCTAGTGATCAGCTCATCCTTTA
CCATAAAAGTCATCATTGCTGTTTAGCTTGACTGTTTTCCTCAAGAACATCGATCTGAAGGATTRATAAGGAGCTTATCTGAACAGATTTATCTAAGAAA
AAAAAAAAAAGACATAAAATAAGCGMAACAACTAGGACCYAATRACAGATAAACTAGTTAGCTTCACAGCCTCTATGGCTACATGGTTCTTCTGGCCGAT
GGTATGACACCTAAGTTAGAACACAGCCTTGGCTGGTGGGTGCCCTCTCTAGACTGGTATCAGCAGCCTGTGTAACCCCTTTCCTGTAAAAGGGGTTCAT
CTTAACAAAGTCATCCATGATGAGGGAAAAAGTGGCATTTCATTTTTGGGGAATCCATGAGCTTCCTTTATTTCTGGCTCACAGAGGCAGCCACGAGGCA
CTACACCAAGTATTATATAAAAGCCATTAAATTTGAATGCCCTTGGACAAGCTTTTCTTAAAAAAAAAAAAAAAGTTTATATACATGTTTGAAATTTTTA
TTAAAATCCAAATTTTCTGGGTGTAAGCCCATGCAGTATGTTGTGCCATGCACCATCTATACGTAATATTTTGGGAGGGGATAGGGGAAGTTTCAAGGTT
CAGATATTTTTAACCAGTCTATATTTGAAATCATGCCATTAGCTTTAACAATGTTAAAATTGTGTGGTGTAAATATATCAGAAAATAGGCATATGGGGAG
GCAGTAAATACTATTTTAAGCTATTAATTGTATGCTAAAAGCTTCTAAAGCACAAGTGCATATTTTTATACTGCTCTTTTCACAACTCCCTGTGATCTAC
ATAAAGTCAGACTCGAGATTTTCCTTTCTCTTTTACCAGCTGATCCTTCCTATGTATTATAAATATTAGACTCCGTAAACAAACTTCATTTTTCTTTCTC
TGTACTTCATGCTGCATTTTTAAAAGGTATAAACAAACAGAGACTGAATTAATTGAATCAGTAATTACTTTTTTCCAATACAAATTGGAATGCAGAATAC
TTGGAACTTGTACATGGGGAAAAAATGACTTATCACTACATAATGTGCCAATGTTTTTTTCTATGTTTTGTACCAAAAATGGAAAAATATGACAATTCCA
TGCAAAGAAATGTATCTAAATTATTTTTGTTAGATGATAAGAGAACTTGCTTGGTCAGGACAGCAGCCAGCTTTGTATTGTAATGCTATATTATGTAAAT
GTGATGAAAATGTTTWTGTGAAGTACTTGTAACTAAATTCCTACAGCCATTTTTCACTCCCAACAGCTGTTTTTATTTTACCTCTTTGGCCTAAAGTTTT
CATAATTTC

Protein Sequence    (SEQ ID NO:1285):
MGCAPSIHVSQSGVIYCRDSDESSSPRQTTSVSQGPAAPLPGLFVQTDAADAIPPSRASGPPSVARVRRARTELGSGSSAGSAAPAATTSRGRRRHCCSS
AEAETQTCYTSVKQVSSAEVRIGPMRLTQDPIQVLLIFAKEDSQSDGFWWACDRAGYRCNIARTPESALECFLDKHHEIIVIDHRQTQNFDAEAVCRSIR
ATNPSEHTVILAVVSRVSDDHEEASVLPLLHAGFNRRFMENSSIIACYNELIQIEHGEVRSQFKLRACNSVFTALDHCHEAIEITSDDHVIQIHKIHRDS
GDNSQTEPHSFRYKNRRKESIDVKSISSRGSDAPSLQNRRYPSMARIHSMTIEAPITKVINIINAAQENSPVTVAEALDRVLEILRTTELYSPQLGTKDE
DPHTSDLVGGLMTDGLRRLSGNEYVFTKNVHQSHSHLAMPITINDVPPCISQLLDNEESWDFNIFELEAITHKRPLVYLGLKVFSRFGVCEFLNCSETTL
RAWFQVIEANYHSSNAYHNSTHAADVLHATAFFLGKERVKGSLDQLDEVAALIAATVHDVDHPGRTNSFLCNAGSELAVLYNDTAVLESHHTALAFQLTV
KDTKCNIFKNIDRNHYRTLRQAIIDMVLATEMTKHFEHVNKFVNSINKPMAAEIEGSDCECNPAGKNFPENQILIKRMMIKCADVANPCRPLDLCIEWAG
RISEEYFAQTDEEKRQGLPVVMPVFDRNTCSIPKSQISFIDYFITDMFDAWDAFAHLPALMQHLADNYKHWKTLDDLKCKSLRLPSDS


SNP Information

Context             (SEQ ID NO:10369):
CATCTTTGAATTGGAAGCCATTACGCATAAAAGGCCATTGGTTTATCTGGGCTTAAAGGTCTTCTCTCGGTTTGGAGTATGTGAGTTTTTAAACTGTTCT
R
AAACCACTCTTCGGGCCTGGTTCCAAGTGATCGAAGCCAACTACCACTCTTCCAATGCCTACCACAACTCCACCCATGCTGCCGACGTCCTGCACGCCAC
Celera SNP ID:            hCV2952483
SNP Position Transcript:  1534
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,29)   caucasian(A,16|G,22)   total(A,23|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 456, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,7|G,11)      total(G,11|A,7) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 456, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:10370):
CTAAATTATTTTTGTTAGATGATAAGAGAACTTGCTTGGTCAGGACAGCAGCCAGCTTTGTATTGTAATGCTATATTATGTAAATGTGATGAAAATGTTT
W
TGTGAAGTACTTGTAACTAAATTCCTACAGCCATTTTTCACTCCCAACAGCTGTTTTTATTTTACCTCTTTGGCCTAAAGTTTTCATAATTTC
Celera SNP ID:            hCV11435347
SNP Position Transcript:  4016
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10371):
GGGACCCCCCAGCGTAGCCCGCGTCCGCAGGGCCCGCACCGAGCTGGGCAGCGGTAGCAGCGCGGGTTCCGCAGCCCCCGCCGCGACCACCAGCAGGGGC
Y
GGAGGCGCCACTGCTGCAGCAGCGCCGAGGCCGAGACTCAGACCTGCTACACCAGCGTGAAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAG
Celera SNP ID:            hCV7441507
SNP Position Transcript:  322
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,35)   caucasian(T,40)   total(C,3|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 52, (H,CAC)   (H,CAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 52, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:10372):
CCACGAGGCACTACACCAAGTATTATATAAAAGCCATTAAATTTGAATGCCCTTGGACAAGCTTTTCTTAAAAAAAAAAAAAAAGTTTATATACATGTTT
G
AAATTTTTATTAAAATCCAAATTTTCTGGGTGTAAGCCCATGCAGTATGTTGTGCCATGCACCATCTATACGTAATATTTTGGGAGGGGATAGGGGAAGT
Celera SNP ID:            hCV26380670
SNP Position Transcript:  3291
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|G,9)   total(G,9|-,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10373):
GCTTGACTGTTTTCCTCAAGAACATCGATCTGAAGGATTCATAAGGAGCTTATCTGAACAGATTTATCTAAGAAAAAAAAAAAAAGACATAAAATAAGCG
M
AACAACTAGGACCAAATTACAGATAAACTAGTTAGCTTCACAGCCTCTATGGCTACATGGTTCTTCTGGCCGATGGTATGACACCTAAGTTAGAACACAG
Celera SNP ID:            hCV7602374
SNP Position Transcript:  2926
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10374):
AGGCTTCCATCTGACAGCTAAAGCCAAGCCACAGAGGGGGCCTCTTGACCGACAAAGGACACTGTGAATCACAGTAGCGTAAACAAGAGGCCTTCCTTTC
R
AATGACAATGACAGGTATTGGTGAAGGAGCTAATGTTTAATATTTGACCTTGAATCATTCAAGTCCCCAAATTTCATTCTTAGAAAGTTATGTTCCATGA
Celera SNP ID:            hCV1080310
SNP Position Transcript:  2492
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,6)   caucasian(A,21|G,11)   total(A,47|G,17)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10375):
ACTAAGTAGCTTAGCTAGTGATCAGCTCATCCTTTACCATAAAAGTCATCATTGCTGTTTAGCTTGACTGTTTTCCTCAAGAACATCGATCTGAAGGATT
R
ATAAGGAGCTTATCTGAACAGATTTATCTAAGAAAAAAAAAAAAAGACATAAAATAAGCGAAACAACTAGGACCAAATTACAGATAAACTAGTTAGCTTC
Celera SNP ID:            hCV27470892
SNP Position Transcript:  2865
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,56|A,677)   total(G,56|A,677) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10376):
CGTGATTCAGGAGACAATTCTCAGACAGAGCCTCATTCATTCAGATATAAGAACAGGAGGAAAGAGTCCATTGACGTGAAATCGATATCATCTCGAGGCA
R
TGATGCACCAAGCCTGCAGAATCGTCGCTATCCGTCCATGGCGAGGATCCACTCCATGACCATCGAGGCTCCCATCACAAAGGTTATAAATATAATCAAT
Celera SNP ID:            hCV25750681
SNP Position Transcript:  1037
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,36)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1285, 291, (I,ATA)   (V,GTA)   



Context             (SEQ ID NO:10377):
TGCTTGGGATGCCTTTGCACATCTGCCAGCCCTGATGCAACATTTGGCTGACAACTACAAACACTGGAAGACACTAGATGACCTAAAGTGCAAAAGTTTG
R
GGCTTCCATCTGACAGCTAAAGCCAAGCCACAGAGGGGGCCTCTTGACCGACAAAGGACACTGTGAATCACAGTAGCGTAAACAAGAGGCCTTCCTTTCT
Celera SNP ID:            hCV25618000
SNP Position Transcript:  2392
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 742, (L,CTA)   (L,CTG)   



Context             (SEQ ID NO:10378):
AGAACATCGATCTGAAGGATTCATAAGGAGCTTATCTGAACAGATTTATCTAAGAAAAAAAAAAAAAGACATAAAATAAGCGAAACAACTAGGACCAAAT
R
ACAGATAAACTAGTTAGCTTCACAGCCTCTATGGCTACATGGTTCTTCTGGCCGATGGTATGACACCTAAGTTAGAACACAGCCTTGGCTGGTGGGTGCC
Celera SNP ID:            hCV1080308
SNP Position Transcript:  2944
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10379):
AGCGGAAGCCTTGGACAGAGTTCTAGAGATTTTACGGACCACAGAACTGTACTCCCCTCAGCTGGGTACCAAAGATGAAGATCCCCACACCAGTGATCTT
Y
TTGGAGGCCTGATGACTGACGGCTTGAGAAGACTGTCAGGAAACGAGTATGTGTTTACTAAGAATGTGCACCAGAGTCACAGTCACCTTGCAATGCCAAT
Celera SNP ID:            hCV1080324
SNP Position Transcript:  1267
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1285, 367, (P,CCC)   (P,CCT)      



Context             (SEQ ID NO:10380):
CTCAAGAACATCGATCTGAAGGATTCATAAGGAGCTTATCTGAACAGATTTATCTAAGAAAAAAAAAAAAAGACATAAAATAAGCGAAACAACTAGGACC
Y
AATTACAGATAAACTAGTTAGCTTCACAGCCTCTATGGCTACATGGTTCTTCTGGCCGATGGTATGACACCTAAGTTAGAACACAGCCTTGGCTGGTGGG
Celera SNP ID:            hCV1080309
SNP Position Transcript:  2940
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None   



Context             (SEQ ID NO:10381):
GAGGCTTCCATCTGACAGCTAAAGCCAAGCCACAGAGGGGGCCTCTTGACCGACAAAGGACACTGTGAATCACAGTAGCGTAAACAAGAGGCCTTCCTTT
Y
TAATGACAATGACAGGTATTGGTGAAGGAGCTAATGTTTAATATTTGACCTTGAATCATTCAAGTCCCCAAATTTCATTCTTAGAAAGTTATGTTCCATG
Celera SNP ID:            hCV25617999
SNP Position Transcript:  2491
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,35|T,5)   total(C,72|T,6)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1285, None



Gene Number:                 231
Celera Gene:                 hCG38090 - 104000117101735
Celera Transcript:           hCT2308678 - 104000117101769
Public Transcript Accession: NM_018268
Celera Protein:              hCP1807431 - 197000064940072
Public Protein Accession:    NP_060738
Gene Symbol:                 FLJ10904
Protein Name:                hypothetical protein FLJ10904;MSTP048
Celera Genomic Axis:         GA_x5YUV32W40L(6016173..6082677)
Chromosome:                  Chr5
OMIM number:                 603390
OMIM Information:            PHOSPHODIESTERASE 8B;PDE8B


Transcript Sequence (SEQ ID NO:589):
GCAATCGCCGCAGCCGCCCCCGCCGTCGGCCGCCGCACCCCAAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAA
TTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGCYGATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGA
GGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACCGGGCAAGACGCCGCCGCTGCCCGGATGTTGCGATGGCTGATCGGGGGAGGCCGAGAAC
CGCAGGGACTGGCCGAGAAATCTCCTTTACAGACAATAGGTGAAGAACAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATAT
TGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTGRTGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTA
GAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCTTCCTTGGAATCTTGTGAAGAGAAAAATCAACTCATCTTGACAGCCTCTGCTG
ATAGAACAGTTATTGTGTGGGATGGTGATACTACCAGACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACT
AGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGTRTGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGGTATTAGTGCT
TTGGTTGAAATACCTAAGAACTGTGTTGTGGCAGCAGTTGGCAAAGAACTGATAATTTTCAGGTTGGTAGCACCCACAGAAGGATCACTAGAATGGGATA
TTCTTGAAGTTAAGCGCCTCCTTGATCACCAGGATAATATTCTCTCATTGATTAATGTCAATGATTTGAGTTTTGTCACCGGCTCCCACGTCGGAGAGCT
GATCATCTGGGATGCCCTGGACTGGACCATGCAGGCCTATGAACGCAACTTCTGGGACCCATCTCCACAACTGGACACCCAACAAGAAATAAAACTCTGT
CAAAAATCAAATGACATTTCTATTCATCATTTCACATGTGATGAAGAGAATGTATTTGCTGCAGTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGA
AGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACRTTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAG
TGTACRCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTTTTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAA
GCCAGCCAACCTGTTAAAAAGCAGCAAGAAAATGCTACTTCATGTTCACTGGAGCTTATTGGAGATTTGATTGGACACTCATCATCTGTGGAGATGTTTC
TATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAAATGGAGAGCGAGAATYTGGATTGCGCAGTTTAAGATT
ATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAATACACATGCATGAACCTTGAACATCAAATATCGGGTAC
TACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAAATTCTRCATGTTTAAATTTTTTGTGGACCTACCAACC
AGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACTTTGAGCTGCTGTTGAAGTGATAAATCTGTTC
AGATAAGCTCCTTATGAATCCTTCAGATCGAYGTTCTTGAGGAAAACAGTCAAGCTAAACAGCAATGATGACTTTTATGAGTTTTCCTCCAACGACAGAA
AAACACTGCAGTAAGCTTTGGCAGCGTGTCCTTTGAAGAGGCAGAGACTCGTTTATCYAGCTATCAAAAATCCATCAAGTCTTCTGCACACAAGCTTCTG
TGCCAGCTGCTGGGGATGCAAAGAATGCACCCCACCCCACTTGGCCACAAAAAGCTGACAGCCACATTTTTAAAAATATATTTTGTTTACCTTTAGGCTC
A

Protein Sequence    (SEQ ID NO:1286):
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASAGDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCE
EKNQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALVEIPKNCVVAAVGKELIIFRL
VAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHIARLPNRQLISCSEDGSVRIWELREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGD
LIGHSSSVEMFLYFEDHGLVTCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV


SNP Information

Context             (SEQ ID NO:10382):
TCATCATCTGTGGAGATGTTTCTATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAAATGGAGAGCGAGAAT
Y
TGGATTGCGCAGTTTAAGATTATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAATACACATGCATGAACCT
Celera SNP ID:            hCV7602371
SNP Position Transcript:  1579
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1286, 438, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10383):
CAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATATTGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTG
R
TGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTAGAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCT
Celera SNP ID:            hCV1080280
SNP Position Transcript:  448
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1286, 61, (G,GGT)   (D,GAT)      61, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:10384):
AAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAATTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGC
Y
GATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGAGGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACC
Celera SNP ID:            hCV25618040
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,23)   caucasian(T,40)   total(C,1|T,63)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1286, None

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1286, None



Context             (SEQ ID NO:10385):
GTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACATTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTAC
R
CATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTTTTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAAGCCAGC
Celera SNP ID:            hCV25618026
SNP Position Transcript:  1306
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1286, 347, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:10386):
GACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACTAGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGT
R
TGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGGTATTAGTGCTTTGGTTGAAATACCTAAGAACTGTGTTGTGGCAGCAG
Celera SNP ID:            hCV25618051
SNP Position Transcript:  737
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,19)   caucasian(G,40)   total(A,3|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1286, 157, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:10387):
TCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACTTTGAGCTGCTGTTGAAGTGATAAATCTGTTCAGATAAGCTCCTTATGAATCCTTCAGATCGA
Y
GTTCTTGAGGAAAACAGTCAAGCTAAACAGCAATGATGACTTTTATGAGTTTTCCTCCAACGACAGAAAAACACTGCAGTAAGCTTTGGCAGCGTGTCCT
Celera SNP ID:            hCV27470892
SNP Position Transcript:  1932
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,56|T,677)   total(C,56|T,677) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1286, None   



Context             (SEQ ID NO:10388):
AACAGCAATGATGACTTTTATGAGTTTTCCTCCAACGACAGAAAAACACTGCAGTAAGCTTTGGCAGCGTGTCCTTTGAAGAGGCAGAGACTCGTTTATC
Y
AGCTATCAAAAATCCATCAAGTCTTCTGCACACAAGCTTCTGTGCCAGCTGCTGGGGATGCAAAGAATGCACCCCACCCCACTTGGCCACAAAAAGCTGA
Celera SNP ID:            hCV3261875
SNP Position Transcript:  2058
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,5|C,6)      total(C,6|T,5) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1286, None   



Context             (SEQ ID NO:10389):
TGTATTTGCTGCAGTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGAAGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCAC
R
TTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTACGCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGT
Celera SNP ID:            hCV1080298
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,22|G,16)   total(A,45|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1286, 329, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIG-allele(A,739|G,756)   total(G,756|A,739)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1286, 329, (V,GTT)   (I,ATT)      329, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:10390):
TGCATGAACCTTGAACATCAAATATCGGGTACTACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAAATTCT
R
CATGTTTAAATTTTTTGTGGACCTACCAACCAGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACT
Celera SNP ID:            hCV3261869
SNP Position Transcript:  1769
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1286, None   



Gene Number:                 231
Celera Gene:                 hCG38090 - 104000117101735
Celera Transcript:           hCT1951685 - 104000117101753
Public Transcript Accession: NM_018268
Celera Protein:              hCP1751853 - 197000064940070
Public Protein Accession:    NP_060738
Gene Symbol:                 FLJ10904
Protein Name:                hypothetical protein FLJ10904;MSTP048
Celera Genomic Axis:         GA_x5YUV32W40L(6021517..6082677)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:590):
GCAATCGCCGCAGCCGCCCCCGCCGTCGGCCGCCGCACCCCAAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAA
TTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGCYGATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGA
GGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACCGGGCAAGACGCCGCCGCTGCCCGGATGTTGCGATGGCTGATCGGGGGAGGCCGAGAAC
CGCAGGGACTGGCCGAGAAATCTCCTTTACAGACAATAGGTGAAGAACAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATAT
TGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTGRTGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTA
GAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCTTCCTTGGAATCTTGTGAAGAGAAAAATCAACTCATCTTGACAGCCTCTGCTG
ATAGAACAGTTATTGTGTGGGATGGTGATACTACCAGACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACT
AGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGTRTGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGTAATTTTCAGG
TTGGTAGCACCCACAGAAGGATCACTAGAATGGGATATTCTTGAAGTTAAGCGCCTCCTTGATCACCAGGATAATATTCTCTCATTGATTAATGTCAATG
ATTTGAGTTTTGTCACCGGCTCCCACGTCGGAGAGCTGATCATCTGGGATGCCCTGGACTGGACCATGCAGGCCTATGAACGCAACTTCTGGGACCCATC
TCCACAACTGGACACCCAACAAGAAATAAAACTCTGTCAAAAATCAAATGACATTTCTATTCATCATTTCACATGTGATGAAGAGAATGTATTTGCTGCA
GTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGAAGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACRTTGCCAGACTTC
CAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTACRCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTT
TTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAAGCCAGCCAACCTGTTAAAAAGCAGCAAGAAAATGCTACTTCATGTTCACTGGAGCTTATTGGA
GATTTGATTGGACACTCATCATCTGTGGAGATGTTTCTATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAA
ATGGAGAGCGAGAATYTGGATTGCGCAGTTTAAGATTATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAAT
ACACATGCATGAACCTTGAACATCAAATATCGGGTACTACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAA
ATTCTRCATGTTTAAATTTTTTGTGGACCTACCAACCAGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCAT
TTGACTTTGAGCTGCTGTTGAAGTGGTGAGTGCTGTGTTTTGAGCTTATTTTGAACCTAGATCCTTGTGAAAGGTACAAATAGAGGTAATAGTTAAGTTA
TGGCATTTATTAGAAGTTTTATTATTTGGCTTCCTTTAGAATTATTGTGAAGTTTAAAAATAGCCTTTCTCCTGCAAATTTTCCTAGTCTTTAGTAACTG
TTAGTGTTCTATATAGCACAAACTTGAATCTCTCAGCCAAAAAAGGGAACATATATACTGTTTAAGTATGGCAAGTTTTCTTTGGTACCAATTTGTTTAG
ATAATTKTAAAAATGTTTTTTAGTTCTAGCTACTAAAACCTGTATGAACTCAAATGGATAGGCATCTTGTGAGGGTGTGTTTTTCCCAGTGTGAATTGGC
TTGAAGAGCCATGGGCTAAATGGGTACTAGAACAACAACTGCCCCTCATGTACGCCAAGGATGAGCTCTAGATCATTTGAGAGGCACAGTGTTTCCGGAG
TCAGGGACTGCAGCTGAGCGCAACTGCCCCATCTGACCACTGACTCAAATACGAACTGCTTGAGACAGACTTCTTTTATGTAGTTCTTTGCAGTGTCCAT
TGAGACACTATAACCAGCCTTGTAACAATATGTTTTCTCCTTTTGGTGCTAAAAAATRAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCT
TAAMCTACTGATGAAGAAAGGGCAACGTGACWGATGTTAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTA
CAAATATACCCTAAAGGGAATCTCCATAAGTTCTTTTACTAGTTTTAGCTTTGACAGTTGCTTCCACAACTACCTACAAAGACTGGAAGAGTTAAGGTCA
TCTGAGTAGACCAGTGGCATAATGTTACAAATGAGGAAACTGAGGCCCAGTGCAGTAAGGCCTTGCAATTAAATCTGTAGTGCCCAGTATCACCAAGCAG
CTCTAAAAACAGGAACTGAAGACTGAATGAGAAAGGCTTATATGACTACTTTAAATCCAAACAACATTGAGTCATGAAAAGTTCTATGGAGAAATATTAA
AACTTAAGCTACCTCAATTACAGAAGACTTTCTCCCATTATTCACGTGCTTTTTCCTTTAGAAATTCTGCATTGGCCCATACATTTGTAAAGTTGTTTTC
TGAAGTTGTATGACACAAGGGAGCCATAGACTTAACTGTTTTACTTCCTAGCCTGTTCTAGGCTAGTATTTTGTGATAGTAATCTATTCAAATGGAGTGG
TAGAAATCACATGAATTTTGGAAGCAAATGGTACCGTAAGTACCACAGCAAATTCCTTCTGGTCATTATACAGGCGTACCTCAGAGATACTACAGGTTAG
GTTTCAGACCACATCAAAAAAGCAACTATTGCAAATAGAGTGAGTCACATCTAGTTTTTGGTTTCCCAGTGCCTATAAAACTTGTGTTTATACTACAGTC
TTAAATTTCTAAAAAATGTACATACCTTAAGAATACTTTATTGCTAAAAAATGCTAACAATCATCTGAGCCTTCAGCGAGTCATAATCTTTTTGCTGGTG
GAGGG

Protein Sequence    (SEQ ID NO:1287):
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASAGDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCE
EKNQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTVIFRLVAPTEGSLEWDILEVKRLLDH
QDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAVGRGLYVYSLQMKRVIACQKTA
HDSNVLHIARLPNRQLISCSEDGSVRIWELREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLVT
CSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV


SNP Information

Context             (SEQ ID NO:10391):
TCATCATCTGTGGAGATGTTTCTATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAAATGGAGAGCGAGAAT
Y
TGGATTGCGCAGTTTAAGATTATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAATACACATGCATGAACCT
Celera SNP ID:            hCV7602371
SNP Position Transcript:  1516
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1287, 417, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10392):
CAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATATTGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTG
R
TGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTAGAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCT
Celera SNP ID:            hCV1080280
SNP Position Transcript:  448
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1287, 61, (G,GGT)   (D,GAT)      61, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:10393):
AAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAATTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGC
Y
GATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGAGGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACC
Celera SNP ID:            hCV25618040
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,23)   caucasian(T,40)   total(C,1|T,63)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1287, None

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1287, None



Context             (SEQ ID NO:10394):
GTTTTCTCCTTTTGGTGCTAAAAAATAAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAAACTACTGATGAAGAAAGGGCAACGTGAC
W
GATGTTAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTACAAATATACCCTAAAGGGAATCTCCATAAGTT
Celera SNP ID:            hCV7602372
SNP Position Transcript:  2532
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1287, None   



Context             (SEQ ID NO:10395):
GTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACATTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTAC
R
CATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTTTTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAAGCCAGC
Celera SNP ID:            hCV25618026
SNP Position Transcript:  1243
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1287, 326, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:10396):
GACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACTAGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGT
R
TGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGTAATTTTCAGGTTGGTAGCACCCACAGAAGGATCACTAGAATGGGATA
Celera SNP ID:            hCV25618051
SNP Position Transcript:  737
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,19)   caucasian(G,40)   total(A,3|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1287, 157, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:10397):
TTCTATATAGCACAAACTTGAATCTCTCAGCCAAAAAAGGGAACATATATACTGTTTAAGTATGGCAAGTTTTCTTTGGTACCAATTTGTTTAGATAATT
K
TAAAAATGTTTTTTAGTTCTAGCTACTAAAACCTGTATGAACTCAAATGGATAGGCATCTTGTGAGGGTGTGTTTTTCCCAGTGTGAATTGGCTTGAAGA
Celera SNP ID:            hCV3261870
SNP Position Transcript:  2107
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|T,5)      total(G,2|T,5) ;no_pop(T,-|G,-)   ;POOLE|_CEPH(G,41|T,147)   total(G,41|T,147)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1287, None   



Context             (SEQ ID NO:10398):
GCTTGAGACAGACTTCTTTTATGTAGTTCTTTGCAGTGTCCATTGAGACACTATAACCAGCCTTGTAACAATATGTTTTCTCCTTTTGGTGCTAAAAAAT
R
AAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAAACTACTGATGAAGAAAGGGCAACGTGACTGATGTTAGCAGACTGACCCTTCTTAC
Celera SNP ID:            hCV1080304
SNP Position Transcript:  2458
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1287, None   



Context             (SEQ ID NO:10399):
GACACTATAACCAGCCTTGTAACAATATGTTTTCTCCTTTTGGTGCTAAAAAATAAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAA
M
CTACTGATGAAGAAAGGGCAACGTGACTGATGTTAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTACAAA
Celera SNP ID:            hCV1080305
SNP Position Transcript:  2504
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1287, None   



Context             (SEQ ID NO:10400):
TGTATTTGCTGCAGTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGAAGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCAC
R
TTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTACGCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGT
Celera SNP ID:            hCV1080298
SNP Position Transcript:  1188
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,22|G,16)   total(A,45|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1287, 308, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIG-allele(A,739|G,756)   total(G,756|A,739)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1287, 308, (V,GTT)   (I,ATT)      308, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:10401):
TGCATGAACCTTGAACATCAAATATCGGGTACTACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAAATTCT
R
CATGTTTAAATTTTTTGTGGACCTACCAACCAGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACT
Celera SNP ID:            hCV3261869
SNP Position Transcript:  1706
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1287, None   



Gene Number:                 231
Celera Gene:                 hCG38090 - 104000117101735
Celera Transcript:           hCT29327 - 104000117101736
Public Transcript Accession: NM_018268
Celera Protein:              hCP48024 - 197000064940069
Public Protein Accession:    NP_060738
Gene Symbol:                 FLJ10904
Protein Name:                hypothetical protein FLJ10904;MSTP048
Celera Genomic Axis:         GA_x5YUV32W40L(6021517..6082677)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:591):
GCAATCGCCGCAGCCGCCCCCGCCGTCGGCCGCCGCACCCCAAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAA
TTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGCYGATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGA
GGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACCGGGCAAGACGCCGCCGCTGCCCGGATGTTGCGATGGCTGATCGGGGGAGGCCGAGAAC
CGCAGGGACTGGCCGAGAAATCTCCTTTACAGACAATAGGTGAAGAACAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATAT
TGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTGRTGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTA
GAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCTTCCTTGGAATCTTGTGAAGAGAAAAATCAACTCATCTTGACAGCCTCTGCTG
ATAGAACAGTTATTGTGTGGGATGGTGATACTACCAGACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACT
AGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGTRTGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGGTATTAGTGCT
TTGGTTGAAATACCTAAGAACTGTGTTGTGGCAGCAGTTGGCAAAGAACTGATAATTTTCAGGTTGGTAGCACCCACAGAAGGATCACTAGAATGGGATA
TTCTTGAAGTTAAGCGCCTCCTTGATCACCAGGATAATATTCTCTCATTGATTAATGTCAATGATTTGAGTTTTGTCACCGGCTCCCACGTCGGAGAGCT
GATCATCTGGGATGCCCTGGACTGGACCATGCAGGCCTATGAACGCAACTTCTGGGACCCATCTCCACAACTGGACACCCAACAAGAAATAAAACTCTGT
CAAAAATCAAATGACATTTCTATTCATCATTTCACATGTGATGAAGAGAATGTATTTGCTGCAGTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGA
AGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACRTTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAG
TGTACRCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTTTTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAA
GCCAGCCAACCTGTTAAAAAGCAGCAAGAAAATGCTACTTCATGTTCACTGGAGCTTATTGGAGATTTGATTGGACACTCATCATCTGTGGAGATGTTTC
TATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAAATGGAGAGCGAGAATYTGGATTGCGCAGTTTAAGATT
ATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAATACACATGCATGAACCTTGAACATCAAATATCGGGTAC
TACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAAATTCTRCATGTTTAAATTTTTTGTGGACCTACCAACC
AGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACTTTGAGCTGCTGTTGAAGTGGTGAGTGCTGTG
TTTTGAGCTTATTTTGAACCTAGATCCTTGTGAAAGGTACAAATAGAGGTAATAGTTAAGTTATGGCATTTATTAGAAGTTTTATTATTTGGCTTCCTTT
AGAATTATTGTGAAGTTTAAAAATAGCCTTTCTCCTGCAAATTTTCCTAGTCTTTAGTAACTGTTAGTGTTCTATATAGCACAAACTTGAATCTCTCAGC
CAAAAAAGGGAACATATATACTGTTTAAGTATGGCAAGTTTTCTTTGGTACCAATTTGTTTAGATAATTKTAAAAATGTTTTTTAGTTCTAGCTACTAAA
ACCTGTATGAACTCAAATGGATAGGCATCTTGTGAGGGTGTGTTTTTCCCAGTGTGAATTGGCTTGAAGAGCCATGGGCTAAATGGGTACTAGAACAACA
ACTGCCCCTCATGTACGCCAAGGATGAGCTCTAGATCATTTGAGAGGCACAGTGTTTCCGGAGTCAGGGACTGCAGCTGAGCGCAACTGCCCCATCTGAC
CACTGACTCAAATACGAACTGCTTGAGACAGACTTCTTTTATGTAGTTCTTTGCAGTGTCCATTGAGACACTATAACCAGCCTTGTAACAATATGTTTTC
TCCTTTTGGTGCTAAAAAATRAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAAMCTACTGATGAAGAAAGGGCAACGTGACWGATGT
TAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTACAAATATACCCTAAAGGGAATCTCCATAAGTTCTTTT
ACTAGTTTTAGCTTTGACAGTTGCTTCCACAACTACCTACAAAGACTGGAAGAGTTAAGGTCATCTGAGTAGACCAGTGGCATAATGTTACAAATGAGGA
AACTGAGGCCCAGTGCAGTAAGGCCTTGCAATTAAATCTGTAGTGCCCAGTATCACCAAGCAGCTCTAAAAACAGGAACTGAAGACTGAATGAGAAAGGC
TTATATGACTACTTTAAATCCAAACAACATTGAGTCATGAAAAGTTCTATGGAGAAATATTAAAACTTAAGCTACCTCAATTACAGAAGACTTTCTCCCA
TTATTCACGTGCTTTTTCCTTTAGAAATTCTGCATTGGCCCATACATTTGTAAAGTTGTTTTCTGAAGTTGTATGACACAAGGGAGCCATAGACTTAACT
GTTTTACTTCCTAGCCTGTTCTAGGCTAGTATTTTGTGATAGTAATCTATTCAAATGGAGTGGTAGAAATCACATGAATTTTGGAAGCAAATGGTACCGT
AAGTACCACAGCAAATTCCTTCTGGTCATTATACAGGCGTACCTCAGAGATACTACAGGTTAGGTTTCAGACCACATCAAAAAAGCAACTATTGCAAATA
GAGTGAGTCACATCTAGTTTTTGGTTTCCCAGTGCCTATAAAACTTGTGTTTATACTACAGTCTTAAATTTCTAAAAAATGTACATACCTTAAGAATACT
TTATTGCTAAAAAATGCTAACAATCATCTGAGCCTTCAGCGAGTCATAATCTTTTTGCTGGTGGAGGG

Protein Sequence    (SEQ ID NO:1288):
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASAGDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCE
EKNQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALVEIPKNCVVAAVGKELIIFRL
VAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHIARLPNRQLISCSEDGSVRIWELREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGD
LIGHSSSVEMFLYFEDHGLVTCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV


SNP Information

Context             (SEQ ID NO:10402):
TCATCATCTGTGGAGATGTTTCTATACTTTGAAGATCATGGACTAGTGACGTGCTCCGCTGATCATCTCATTATTTTGTGGAAAAATGGAGAGCGAGAAT
Y
TGGATTGCGCAGTTTAAGATTATTTCAAAAATTAGAGGAGAATGGTGACTTATACCTTGCTGTCTAGTTTAAGGAATTAAAAATACACATGCATGAACCT
Celera SNP ID:            hCV7602371
SNP Position Transcript:  1579
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1288, 438, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10403):
CAAACCCAGAATCCCTACACTGAACTGCTAGTACTGAAGGCTCATCATGATATTGTACGATTTCTGGTACAGTTAGATGACTACAGATTTGCATCTGCTG
R
TGATGATGGAATTGTAGTTGTGTGGAATGCCCAGACAGGGGAAAAACTTTTAGAACTGAATGGACACACTCAAAAGATAACAGCTATTATTACATTTCCT
Celera SNP ID:            hCV1080280
SNP Position Transcript:  448
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1288, 61, (G,GGT)   (D,GAT)      61, (D,GAT)   (G,GGT)      



Context             (SEQ ID NO:10404):
AAGCGACTGCCCAAACTAAGCCTCCGTGGCTGGGTACGGGAGCGCTTTGGGGACAAAAATTCTCCCTCAACTGTGGTCTGCATTCCTTCGGCCCGTGGGC
Y
GATCTGGGGCGGGAAGTATTAGCGTCTCAGTTGCGCTGCAGCCGGGGAGGAAGGAGGAGGCCGAGCCTGGGGCGGAGTTTGGGCTGACTGGGGCTGGACC
Celera SNP ID:            hCV25618040
SNP Position Transcript:  142
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,23)   caucasian(T,40)   total(C,1|T,63)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1288, None

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,31)   caucasian(T,40)   total(C,1|T,71)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1288, None



Context             (SEQ ID NO:10405):
GTTTTCTCCTTTTGGTGCTAAAAAATAAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAAACTACTGATGAAGAAAGGGCAACGTGAC
W
GATGTTAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTACAAATATACCCTAAAGGGAATCTCCATAAGTT
Celera SNP ID:            hCV7602372
SNP Position Transcript:  2595
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1288, None   



Context             (SEQ ID NO:10406):
GTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCACATTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTAC
R
CATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGTACCAACAGGTTTTTTTAACATGTGGGGATTTGGAAGAGTCAGCAAACAAGCCAGC
Celera SNP ID:            hCV25618026
SNP Position Transcript:  1306
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1288, 347, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:10407):
GACAAGTTCAGAGAATATCATGCTTCCAGTCTACTGTAAAGTGTTTAACTGTTCTTCAGAGACTAGATGTTTGGCTTTCTGGTGGGAATGACCTGTGTGT
R
TGGAACCGAAAATTAGATCTCCTGTGTAAGACTAGCCACCTTTCTGATACAGGTATTAGTGCTTTGGTTGAAATACCTAAGAACTGTGTTGTGGCAGCAG
Celera SNP ID:            hCV25618051
SNP Position Transcript:  737
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,19)   caucasian(G,40)   total(A,3|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1288, 157, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:10408):
TTCTATATAGCACAAACTTGAATCTCTCAGCCAAAAAAGGGAACATATATACTGTTTAAGTATGGCAAGTTTTCTTTGGTACCAATTTGTTTAGATAATT
K
TAAAAATGTTTTTTAGTTCTAGCTACTAAAACCTGTATGAACTCAAATGGATAGGCATCTTGTGAGGGTGTGTTTTTCCCAGTGTGAATTGGCTTGAAGA
Celera SNP ID:            hCV3261870
SNP Position Transcript:  2170
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|T,5)      total(G,2|T,5) ;no_pop(T,-|G,-)   ;POOLE|_CEPH(G,41|T,147)   total(G,41|T,147)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1288, None   



Context             (SEQ ID NO:10409):
GCTTGAGACAGACTTCTTTTATGTAGTTCTTTGCAGTGTCCATTGAGACACTATAACCAGCCTTGTAACAATATGTTTTCTCCTTTTGGTGCTAAAAAAT
R
AAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAAACTACTGATGAAGAAAGGGCAACGTGACTGATGTTAGCAGACTGACCCTTCTTAC
Celera SNP ID:            hCV1080304
SNP Position Transcript:  2521
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1288, None   



Context             (SEQ ID NO:10410):
GACACTATAACCAGCCTTGTAACAATATGTTTTCTCCTTTTGGTGCTAAAAAATAAAAATATTAGAAAGTAGTCTACACATTAAAGATTGAAATTCTTAA
M
CTACTGATGAAGAAAGGGCAACGTGACTGATGTTAGCAGACTGACCCTTCTTACAGAAAACCTACAGATTTATTTGTTCATTATACAAATATACTACAAA
Celera SNP ID:            hCV1080305
SNP Position Transcript:  2567
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1288, None   



Context             (SEQ ID NO:10411):
TGTATTTGCTGCAGTTGGAAGGGGTTTATACGTGTATAGCCTTCAAATGAAGCGTGTGATTGCCTGCCAGAAAACTGCACATGACTCCAATGTCCTGCAC
R
TTGCCAGACTTCCAAACAGGCAGTTAATCTCATGCTCAGAAGATGGCAGTGTACGCATTTGGGAGTTAAGAGAAAAACAGCAGCTTGCAGCTGAGCCTGT
Celera SNP ID:            hCV1080298
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(A,23|G,11)   caucasian(A,22|G,16)   total(A,45|G,27)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1288, 329, (I,ATT)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIG-allele(A,739|G,756)   total(G,756|A,739)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1288, 329, (V,GTT)   (I,ATT)      329, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:10412):
TGCATGAACCTTGAACATCAAATATCGGGTACTACTCTGAAAACCATTAATATATTGATCACTTAAATTGGTAATTTTTTTTGTCAGTCCATAAAATTCT
R
CATGTTTAAATTTTTTGTGGACCTACCAACCAGGAACATGTTGCTTCTCAGGTCCTAGTATATCCTCCAAAGAATATACCACAAGTTTTTCCATTTGACT
Celera SNP ID:            hCV3261869
SNP Position Transcript:  1769
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1288, None   



Gene Number:                 232
Celera Gene:                 hCG38209 - 66000115839973
Celera Transcript:           hCT29448 - 66000115839974
Public Transcript Accession: NM_020125
Celera Protein:              hCP49523 - 197000069372275
Public Protein Accession:    NP_064510
Gene Symbol:                 BLAME
Protein Name:                B lymphocyte activator macrophage expressed;SBBI42
Celera Genomic Axis:         GA_x5YUV32VSLS(1601985..1612670)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:592):
GGACCACAGCTCCTCCCGTGCATCCACTCRGCCTGGGAGGTTCTGGAKTTTGGCTGTCGAGGGAGTTTGCCTGCCTCTCCAGAGAAAGATGGTCATGAGG
MCCCTGTGGAGTCTGCTTCTCTGGGAAGCCCTACTTCCCATTACAGTTACTGGTGCCCAAGTGCTGAGCAAAGTCGGGGGCTCGGTGCTGCTGGTGGCAG
CGCGTCCCCCTGGCTTCCAAGTCCGTGAGGCTATCTGGCGATCTCTCTGGCCTTCAGAAGAGCTCCTGGCCACGTTTTTCCGAGGCTCCCTGGAGACTCT
GTACCATTCCCGCTTCCTGGGCCGAGCCCAGCTACACAGCAACCTCAGCCTGGAGCTCGGGCCGCTGGAGTCTGGAGACAGCRGCAACTTCTCCGTGTTG
ATGGTGGACACAAGGGGCCAGCCCTGGACCCAGACCCTCCAGCTCAAGGTGTACGATGCAGTGCCCAGGCCCRTGGTACAAGTGTTCATTGCTGTAGAAA
GGGATGCTCAGCCCTCCAAGACCTGCCAGGTTTTCTTGTCCTGTTGGGCCCCCAACATCAGCGAAATAACCTATAGCTGGCGACGGGAGACAACCATGGA
CTTTGGTATGGAACCACACAGCCTCTTCACAGACRGACAGGTGCTGAGCATTTCCCTGGGACCAGGAGACAGAGATGTGGCCTATTCCTGCATTGTCTCC
AACCCTGTCAGCTGGGACTTGGCCACAGTCACGCCCTGGGATAGCTGTCATCATGAGGCAGCACCAGGGAAGGCCTCCTACAAAGATGTGCTGCTGGTGG
TGGTGCCTGTCTCGCTGCTCCTGATGCTGGTTACTCTCTTCTCTGCCTGGCACTGGTGCCCCTGCTCAGGGAAAAAGAAAAAGGATGTCCATGCTGACAG
AGTGGGTCCAGAGACAGAGAACCCCCTTGTGCAGGATCTGCCATAAAGGACAATATGAACTGATGCCTGGACTATCAGTAACCCCACTGCACAGGCACAC
GATGCTCTGGGACATAACTGGTGCCTGGAAATCACCATGGTCCTCATATCTCCCATGGGAATCCTGTCCTGCCTCGAAGGAGCAGCCTGGGCAGCCATCA
CACCACGAGGACAGGAAGCACCAGCACGTTTCACACCTCCCCCTTCCCTCTCCCATCTTCTCATATCCTGGCTCTTCTCTGGGCAAGATGAGCCAAGCAG
AACATTCCATCCAGGACACTGGAAGTTCTCCAGGATCCAGATCCATGGGGACATTAATAGTCCAAGGCATTCCCTCCCCCACCACTATTCATAAAGTATT
AACCAACTGGCACCAAGGAATTGCCTCCAGCCTGAGTCCTAGGCTCTAAAAGATATTACATATTTGAACTAATAGAGGAACTCTGAGTCACCCATGCCAG
CATCAGCTTCAGCCCCAGACCCTGCAGTTTGAGATCTGATGCTTCCTGAGGGCCAAGGCATTGCTGTAAGAAAAGGTCTAGAAATAGGTGAAAGTGAGAG
GTGGGGGACAGGGGTTTCTCTTTCTGGCCTAAGGACTTTCAGGTAATCAGAGTTCATGGGCCCTCAAAGGTAAATTGCAGTTGTAGACACCGAGGATGGT
TGACAACCCATGGTTGAGATGGGCACCGTTTTGCAGGAAACACCATATTAATAGACATCCTCACCATCTCCATCCGCTCTCACGCCTCCTGCAGGATCTG
GGAGTGAGGGTGGAGAGTCTTTCCTCACGCTCCAGCACAGTGGCCAGGAAAAGAAATACTGAATTTGCCCCAGCCAACAGGACGTTCTTGCACAACTTCA
AGAAAAGCAGCTCAGCTCAGGATGAGTCTTCCTGCCTGAAACTGAGAGAGTGAAGAACCATAAAACGCTATGCAGAAGGAACATTATGGAGAGAAAGGGT
ACTGAGGCACTCTAGAATCTGCCACATTCATTTTCAAATGCAAATGCAGAAGACTTACCTTAGTTCAAGGGGAGGGGACAAAGACCCCACAGCCCAACAG
CAGGACTGTAGAGGTCACTCTGACTCCATCAAACTTTTTATTGTGGCCATCTTAGGAAAATACATTCTGCCCCTGAATGATTCTGTCTAGAAAAGCTCTG
GAGTATTGATCACTACTGGAAAAACACTTAAGGAGCTAAACTTACCTTCGGGGATTATTAGCTGATAAGGTTCACAGTTTCTCTCACCCAGGTGTAACTG
GATTTTTTCTGGGGCCTCAATCCAGTCTTGATAACAGCGAGGAAAGAGGTATTGAAGAAACAGGGGTGGGTTTGAAGTACTATTTTCCCAGGGTGGCTTC
AATCTCCCCACCTAGGATRTCAGCCCTGTCCAAGGACCTTCCCTCTTCTCCCCAGTTCCTGGGCAATCACTTCACCTTGGACAAAGGATCAGCACAGCTG
GCCTCCAGATCCACATCACCACTCTTCCACTCGATTGTTCCCAGATCCTCCCTGCCTGGCCTGCTCAGAGGTTCCCTGTTGGTAACCTGGCTTTATCAAA
TTCTCATCCCTTTCCCACACCCACTTCTCTCCTATCACCTTCCCCCAAGATTACCTGAACAGGGTCCATGGCCACTCAACCTGTCAGCTTGCACCATCCC
CACCTGCCACCTACAGTCAGGCCACATGCCTGGTCACTGAATCATGCAAAACTGGCCTCAGTCCCTAAAAATGATGTGGAAAGGAAAGCCCAGGATCTGA
CAATSAGCCCTGGTGGATTTGTGGGGAAAAAATACACAGCACTCCCCACCTTTCTTTCGTTCATCTCCAGGGCCCCACCTCAGATCAAAGCAGCTCTGGA
TGAGATGGGACCTGCAGCTCTCCCTCCACAAGGTGACTCTTAGCAACCTCATTTCGACAGTGGTTTGTAGCGTGGTGCACCAGGGCCTTGTTGAACAGAT
CCACACTGCTCTAATAAAGTTCCCATCCTTAATGACTCACTTGTCAACTAGTGGACTAATTAACCCTCCACCAAAAAAACACAAAGTGCTTCTGTGAGAC
CAATTTTGTGCTAATGAGCATTGAGACTGATGCTTTGTAAGTCACACCACAACAAATATTGATTGAGGGCGCTGCATGTGCTGGGTACATTTCTTGGCAC
TTGGGAATCAGTAGTCAAGCGAAACCCTTGCCTTTGAGAGTTTATGGTCTGGATAATATAAATAAACAAGTAAGCATAT

Protein Sequence    (SEQ ID NO:1289):
MVMRPLWSLLLWEALLPITVTGAQVLSKVGGSVLLVAARPPGFQVREAIWRSLWPSEELLATFFRGSLETLYHSRFLGRAQLHSNLSLELGPLESGDSGN
FSVLMVDTRGQPWTQTLQLKVYDAVPRPVVQVFIAVERDAQPSKTCQVFLSCWAPNISEITYSWRRETTMDFGMEPHSLFTDGQVLSISLGPGDRDVAYS
CIVSNPVSWDLATVTPWDSCHHEAAPGKASYKDVLLVVVPVSLLLMLVTLFSAWHWCPCSGKKKKDVHADRVGPETENPLVQDLP


SNP Information

Context             (SEQ ID NO:10413):
TGGAGACAGCGGCAACTTCTCCGTGTTGATGGTGGACACAAGGGGCCAGCCCTGGACCCAGACCCTCCAGCTCAAGGTGTACGATGCAGTGCCCAGGCCC
R
TGGTACAAGTGTTCATTGCTGTAGAAAGGGATGCTCAGCCCTCCAAGACCTGCCAGGTTTTCTTGTCCTGTTGGGCCCCCAACATCAGCGAAATAACCTA
Celera SNP ID:            hCV25618730
SNP Position Transcript:  473
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 129, (M,ATG)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 129, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10414):
GGACCACAGCTCCTCCCGTGCATCCACTC
R
GCCTGGGAGGTTCTGGATTTTGGCTGTCGAGGGAGTTTGCCTGCCTCTCCAGAGAAAGATGGTCATGAGGCCCCTGTGGAGTCTGCTTCTCTGGGAAGCC
Celera SNP ID:            hCV25618741
SNP Position Transcript:  30
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(G,26)   total(A,1|G,57)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1289, None



Context             (SEQ ID NO:10415):
AGGCTCCCTGGAGACTCTGTACCATTCCCGCTTCCTGGGCCGAGCCCAGCTACACAGCAACCTCAGCCTGGAGCTCGGGCCGCTGGAGTCTGGAGACAGC
R
GCAACTTCTCCGTGTTGATGGTGGACACAAGGGGCCAGCCCTGGACCCAGACCCTCCAGCTCAAGGTGTACGATGCAGTGCCCAGGCCCGTGGTACAAGT
Celera SNP ID:            hCV22272691
SNP Position Transcript:  383
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,3|G,33)   total(A,3|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 99, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:10416):
AATCCAGTCTTGATAACAGCGAGGAAAGAGGTATTGAAGAAACAGGGGTGGGTTTGAAGTACTATTTTCCCAGGGTGGCTTCAATCTCCCCACCTAGGAT
R
TCAGCCCTGTCCAAGGACCTTCCCTCTTCTCCCCAGTTCCTGGGCAATCACTTCACCTTGGACAAAGGATCAGCACAGCTGGCCTCCAGATCCACATCAC
Celera SNP ID:            hCV444401
SNP Position Transcript:  2319
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,4)   total(G,4|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1289, None   



Context             (SEQ ID NO:10417):
TGCCACCTACAGTCAGGCCACATGCCTGGTCACTGAATCATGCAAAACTGGCCTCAGTCCCTAAAAATGATGTGGAAAGGAAAGCCCAGGATCTGACAAT
S
AGCCCTGGTGGATTTGTGGGGAAAAAATACACAGCACTCCCCACCTTTCTTTCGTTCATCTCCAGGGCCCCACCTCAGATCAAAGCAGCTCTGGATGAGA
Celera SNP ID:            hCV444402
SNP Position Transcript:  2705
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,5)   total(G,5|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1289, None   



Context             (SEQ ID NO:10418):
GGACCACAGCTCCTCCCGTGCATCCACTCGGCCTGGGAGGTTCTGGATTTTGGCTGTCGAGGGAGTTTGCCTGCCTCTCCAGAGAAAGATGGTCATGAGG
M
CCCTGTGGAGTCTGCTTCTCTGGGAAGCCCTACTTCCCATTACAGTTACTGGTGCCCAAGTGCTGAGCAAAGTCGGGGGCTCGGTGCTGCTGGTGGCAGC
Celera SNP ID:            hCV16193448
SNP Position Transcript:  101
SNP Source:               Applera
Population(Allele,Count): african american(A,1|C,33)   caucasian(C,26)   total(A,1|C,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 5, (T,ACC)   (P,CCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 5, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:10419):
GGACCACAGCTCCTCCCGTGCATCCACTCGGCCTGGGAGGTTCTGGA
K
TTTGGCTGTCGAGGGAGTTTGCCTGCCTCTCCAGAGAAAGATGGTCATGAGGCCCCTGTGGAGTCTGCTTCTCTGGGAAGCCCTACTTCCCATTACAGTT
Celera SNP ID:            hCV25618737
SNP Position Transcript:  48
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,27)   caucasian(T,30)   total(G,1|T,57)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1289, None

SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,28)   total(G,1|T,61)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1289, None



Context             (SEQ ID NO:10420):
CTTGTCCTGTTGGGCCCCCAACATCAGCGAAATAACCTATAGCTGGCGACGGGAGACAACCATGGACTTTGGTATGGAACCACACAGCCTCTTCACAGAC
R
GACAGGTGCTGAGCATTTCCCTGGGACCAGGAGACAGAGATGTGGCCTATTCCTGCATTGTCTCCAACCCTGTCAGCTGGGACTTGGCCACAGTCACGCC
Celera SNP ID:            hCV25618729
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1289, 183, (R,AGA)   (G,GGA)   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT2266506 - 67000129103639
Public Transcript Accession: NM_004027
Celera Protein:              hCP1796624 - 197000064929265
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9242171..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:593):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGKGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGATGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACATACATCATCTGGCTGCCAGTCCATAATCTACATACCCC
AGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGGACAG
GTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCATCCAT
GGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACCCTCA
TGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCCTAGA
GTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAGCAAG
AAAGATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATGATGA
GTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTACCGCCGTGACGTGGTCTT
CTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGCTCTACACCATCGGGCTG
CTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACCTTCA
AAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCCCGCT
GTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGCAGCAGACACTGGCCGAG
AGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAGGATT
GCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTG
GCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGC
CTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGTGAGGGTTGTCGAAGAGAAAATACAATGAAGA
ATGTTGGAAGTCGCAAATATGCATTTAATTCCCTGCAGCTGAAGGCTTTCCCCAAGCATTACAGGCCTCCCGAAGGGACTTACGGAAAAGTTGAAACGTG
AACACACGGTTTCCTCTAATTAGCTGTTACATAATAAATGTGGGTACCCTCTAGTGTCATATATGAATTCTTCAAGAAGACCTGAAGGATTGGTTTTTAT
TTTTTGTGGTTTTTTTAAAAAAAACATTTCACTAAAGAGTCTCTGGAGCATGTTTTTTGTTTTTTGGGTTTTTTTCCCCATTGGAATCAATAGGAGGTAA
TGTTTGGCTCAATAGTGTGGATAGTAACAACTGCCTATTTAAATTAAATAGCCTTTGGCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATC
AAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTAYTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATC
CACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAAYTGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTA
TCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACTACCACCTGAAGAAGTTGAAAGAAAGATTGATAAATCAACGGGAGATAAGAC
TTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGASTTACAGAACAGGGAGTCTGCTGGAGACACA
AAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCCCAGAGGACACATCTCCCCTTCTTCTCTAGA
TGTTAATGTAGGGCCTCAGATGTGGCATGTCAACACTCCCATGGGGAATTTATGACCATAGAGATAGTAGAAACCTAAATATTTTCAGAAAAAAAATTTT
TTTTGCAGGATTTCCAATTTATCTTTGAAAAGACAGTACAATCATGTTTGAATGTCTGATGAAAGTGTCTTATTTTTAGGTTTGCAATAATTGTTACTTT
CTTATTCTCATTCTTATGTAAGATGACTATTGAGAAACAGTTGAAATTTATTCTCCTCAAATGAGATTTTGAAAGGGATTTATGGGCCATAAAACTTAGG
AATTTCATAGAAAATTTTGTCTGGTCATCTTTTATAAGATGATGATGAGTCTTATCTGCACATAGCAGAGTTTGTTTCTTAGGAGTTTATATGTTTTATT
GATTCTGTTTACGATGTTTACATGTTCTTGAAAAGGTTGTAAAAGAAATACATATGGCACATATTAATGATGCTGATCCTAATGATTTGTGAACCTCTTA
GAAATTCTTTTGTCTAAAAGCCTAGAGATTCTTCTGGTTCCTTTAGAAACATGTAACAAACTTGGGCCAGGGGTGCTGAGGCATGGGGAGGACTGCTTAT
TGGCAGGAACACAGAGGGGGTGGGCATCAGGTAGGGTGGAACTGGATGACCTTCCAGACCCCCTCCTACTCAGAAGTCAGCATGCAAGCAGCGCCTGCTG
TCTCCCGATGCCTGCAGGGAGGAAAATGTCTGTGAAGGACACTTTAATGAAGGACGAAGCTCTCTGCTGCTCCCTCAAAGCTGAGTTCACTGTGGCAGGC
AGGAAGCAGAGAAGCTCCTGCCCGCCAAACCCACTGCACAGGTGGCTGCTGCTGGTATCAGATTCTCCTTTTTAAGTGTCAATTTCTGTTCACAGACAGT
TTGTTTTCAATATGGCTGATTTACCCTTTCACCTCTCCACCATCTCATTTAATTTGTAAATTTTTAGTTCTGTCTTTTCTCATTTTAACTTTTAAAAAAT
CTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAAYATAGCAAA
TGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTGTAAGACTT
GGCAAATGCTATAGAAAAGGTTCAGGTTTCAGTATTCTCTCTGAAGGCATCATTCCTGGGCTTCCGGCAGCATCACACGCTTCCAGTGCCTGCAGGGTGA
GGGTGTGTGGCACAGAGGCAAGCAGCTCCTCTCTTCTGTAGGAGCTTTGGGTTTTCAGAGGTGCAGGGAAGGCAGTTTTACAGGTTACCGTAAAACAGAG
GTTCCGTCCAGTGTTCCTTATGATGCCTCCCCATTTAAAAAGAAAAGAGATCTATGGAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGA
GCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTTKTCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATAC
CTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGTTTTATATATTCTTAGGTCATTCAAAGCCATGTATGCTGTAAAT
GTGCTAGTCTTTAGAATGACACATAATAAATAACTGACAAGATATTAAATGTGGTCTTGCCTGATTCATCCTATTAGGAGGACTAGTTCTATGTGACCAG
CCTGTGACTGGACCATTGTTCTTGGGCATTGCATTGAGTGCTCGGGTGCTGAATACATGTTTGTAAACATGGGACCATGGGAGACTTCCATTTTATAAGC
TTGTTTCTGCCTAATTTGAAGCAGAGGGGCAACAGCGTTGAGGTTAAGAGCACGGACTTTGGGAGCACACAGACCAGGTCCCAATCCTGGTTCTGCCCCT
GACTGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACG
TGCRACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTWACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTC
CTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAG
GCACACACGRCCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT

Protein Sequence    (SEQ ID NO:1290):
MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSS
IAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDE
SLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHTSSGCQSIIYIP
QDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTL
MARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLTTLTDCVAMM
SDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTF
KVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPED
CLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMK
NVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET


SNP Information

Context             (SEQ ID NO:10421):
GAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTT
K
TCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGT
Celera SNP ID:            hCV11462754
SNP Position Transcript:  5557
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10422):
GCTCACTTACTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAA
Y
TGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACT
Celera SNP ID:            hCV29002470
SNP Position Transcript:  3649
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10423):
TGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGC
R
ACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTTACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCG
Celera SNP ID:            hCV29002471
SNP Position Transcript:  6104
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10424):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1290, 86, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1290, 86, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:10425):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1290, 226, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10426):
TTAAAAAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAA
Y
ATAGCAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTG
Celera SNP ID:            hCV15882050
SNP Position Transcript:  5092
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,391|T,1102)   total(C,391|T,1102)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10427):
TTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGCGACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGT
W
ACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGAC
Celera SNP ID:            hCV8948110
SNP Position Transcript:  6149
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10428):
TGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAGGCACACACG
R
CCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT
Celera SNP ID:            hCV3266573
SNP Position Transcript:  6310
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10429):
GCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTA
Y
TTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAATTGGATCCTA
Celera SNP ID:            hCV29002469
SNP Position Transcript:  3558
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10430):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2958
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1290, 853, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1290, 853, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10431):
GTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTAGAGGAAGATGCAGCCAG
K
GTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCATCATCCTCACATACCAGG
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1218
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1290, None   



Context             (SEQ ID NO:10432):
GAAAGATTGATAAATCAACGGGAGATAAGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGA
S
TTACAGAACAGGGAGTCTGCTGGAGACACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCC
Celera SNP ID:            hCV8948109
SNP Position Transcript:  3870
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1290, None   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT1955215 - 67000129103494
Public Transcript Accession: NM_004027
Celera Protein:              hCP1767947 - 197000064929267
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9250634..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:594):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGAGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGKTGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACAGTAATACATCATCTGGCTGCCAGTCCATAATCTACATA
CCCCAGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGG
ACAGGTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCAT
CCATGGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACC
CTCATGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCC
TAGAGTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAG
CAAGAAAGATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATG
ATGAGTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTACCGCCGTGACGTGG
TCTTCTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGCTCTACACCATCGG
GCTGCTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACC
TTCAAAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCC
CGCTGTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGCAGCAGACACTGGC
CGAGAGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAG
GATTGCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTC
TCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCA
GTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGCATTGGAACACGGGAGGTAGTCACCCAG
AAGAACTTGAGCGGCCTGGTGCCCATCCGAGACTTAAGGCTAGACCCCAGCCTCCTCTGTTCCATCCCTTTATTAGCTCTGAGCCCCAATTTACTGATTG
TGTGGCTCTTTCTGAGCATAGCATACCTGGTGACCAAATTGCGTTGCAAATGAATATCATTATGAAAAATTAATAAGTCACAAGAAAAACAAAAGTGCCA
GAACATGTCCAGCCACCGTGTACCTAACTGGACAGAAGGAATGTGTCAAACCGTGGTCTGCCAAGAAATATTTCATGCCTTACATTTTGACGTTTTGTTC
TTCTGAACTGTAAATATCTGCCAAATTATTTCACCAAGAAGACTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAACATGTTCTTACGGTGCCC
TGTCACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCACRTCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCTCTCATGTGCCCTGTTTC
CAAGAGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGATACTATTCTTTAAGTGTACTGCTAACCCTTCCTTTCCTTTTGATGACAAACGAAAAGA
AAAAAACATGCTTTATAACTGGCTTATCTAGAAAAACCTATCTAATAGGACATGTACTTTCTGCTTTCATTTCAAAGCGTAGTCCCTGAATTACAGTAGC
AAACAGTTTGCAGAATCCTACCATTTCCTTGCTT

Protein Sequence    (SEQ ID NO:1291):
MEDQIRTTTSSPLGRQQHTAKVLSQEVSAKSCTNLKRPRNSNTSSGCQSIIYIPQDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAIL
ADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQK
ERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFI
IKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGM
LLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGV
RFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSIGTREVVTQKNLSGLVPIRDLRLDPSLLCSIPLLALSPNLLIVWLFLSIAYLVTKL
RCK


SNP Information

Context             (SEQ ID NO:10433):
CTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAACATGTTCTTACGGTGCCCTGTCACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCAC
R
TCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCTCTCATGTGCCCTGTTTCCAAGAGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGAT
Celera SNP ID:            hCV27514044
SNP Position Transcript:  3543
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,56|G,1445)   total(G,1445|A,56) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1291, None   



Context             (SEQ ID NO:10434):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2962
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1291, 507, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1291, 507, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10435):
TACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGTTCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACG
K
TGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGCCAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAA
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1442
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1291, None   



Context             (SEQ ID NO:10436):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1291, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1291, None   



Context             (SEQ ID NO:10437):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1291, None



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT29666 - 67000129103552
Public Transcript Accession: NM_004027
Celera Protein:              hCP48319 - 197000064929263
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9242171..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:595):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCACCAC
TTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCATGACAGCA
AGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCTGGCAGGAA
ATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGT
GAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTC
TTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGGCTCTGGAA
CGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACCGTGATTGG
CTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGAGCTTGACG
GAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCGGTTTCCAA
CCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTAGAGGAAGA
TGCAGCCAGKGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCATCATCCTC
ACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGTTCCCACAA
ACTTGCACATACAAAGGATGAGAGTTCAAGACGATGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGCCAAGGTTT
TAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACATACATCATCTGGCTGCCAGTCCATAATCTACATACCCCAGGATGTT
GTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGGACAGGTCTGCCA
CTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCATCCATGGGCTGAA
CGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACCCTCATGGCCCGG
TGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCCTAGAGTGCATCA
TTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAGCAAGAAAGATTG
CAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATGATGAGTGACAAG
GCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTACCGCCGTGACGTGGTCTTCTGCCAGA
CGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGCTCTACACCATCGGGCTGCTGGCCCA
GTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACCTTCAAAGTCACT
CAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCCCGCTGTTTGACG
CCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGCAGCAGACACTGGCCGAGAGGTTTGG
CGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAGGATTGCCTGCCT
CGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTG
CTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCT
GCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGTGAGGGTTGTCGAAGAGAAAATACAATGAAGAATGTTGGA
AGTCGCAAATATGCATTTAATTCCCTGCAGCTGAAGGCTTTCCCCAAGCATTACAGGCCTCCCGAAGGGACTTACGGAAAAGTTGAAACGTGAACACACG
GTTTCCTCTAATTAGCTGTTACATAATAAATGTGGGTACCCTCTAGTGTCATATATGAATTCTTCAAGAAGACCTGAAGGATTGGTTTTTATTTTTTGTG
GTTTTTTTAAAAAAAACATTTCACTAAAGAGTCTCTGGAGCATGTTTTTTGTTTTTTGGGTTTTTTTCCCCATTGGAATCAATAGGAGGTAATGTTTGGC
TCAATAGTGTGGATAGTAACAACTGCCTATTTAAATTAAATAGCCTTTGGCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATCAAGCTAGG
TTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTAYTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGT
AAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAAYTGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTATCTCATGC
AGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACTACCACCTGAAGAAGTTGAAAGAAAGATTGATAAATCAACGGGAGATAAGACTTTATTAG
AAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGASTTACAGAACAGGGAGTCTGCTGGAGACACAAAGCCAGC
AGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCCCAGAGGACACATCTCCCCTTCTTCTCTAGATGTTAATG
TAGGGCCTCAGATGTGGCATGTCAACACTCCCATGGGGAATTTATGACCATAGAGATAGTAGAAACCTAAATATTTTCAGAAAAAAAATTTTTTTTGCAG
GATTTCCAATTTATCTTTGAAAAGACAGTACAATCATGTTTGAATGTCTGATGAAAGTGTCTTATTTTTAGGTTTGCAATAATTGTTACTTTCTTATTCT
CATTCTTATGTAAGATGACTATTGAGAAACAGTTGAAATTTATTCTCCTCAAATGAGATTTTGAAAGGGATTTATGGGCCATAAAACTTAGGAATTTCAT
AGAAAATTTTGTCTGGTCATCTTTTATAAGATGATGATGAGTCTTATCTGCACATAGCAGAGTTTGTTTCTTAGGAGTTTATATGTTTTATTGATTCTGT
TTACGATGTTTACATGTTCTTGAAAAGGTTGTAAAAGAAATACATATGGCACATATTAATGATGCTGATCCTAATGATTTGTGAACCTCTTAGAAATTCT
TTTGTCTAAAAGCCTAGAGATTCTTCTGGTTCCTTTAGAAACATGTAACAAACTTGGGCCAGGGGTGCTGAGGCATGGGGAGGACTGCTTATTGGCAGGA
ACACAGAGGGGGTGGGCATCAGGTAGGGTGGAACTGGATGACCTTCCAGACCCCCTCCTACTCAGAAGTCAGCATGCAAGCAGCGCCTGCTGTCTCCCGA
TGCCTGCAGGGAGGAAAATGTCTGTGAAGGACACTTTAATGAAGGACGAAGCTCTCTGCTGCTCCCTCAAAGCTGAGTTCACTGTGGCAGGCAGGAAGCA
GAGAAGCTCCTGCCCGCCAAACCCACTGCACAGGTGGCTGCTGCTGGTATCAGATTCTCCTTTTTAAGTGTCAATTTCTGTTCACAGACAGTTTGTTTTC
AATATGGCTGATTTACCCTTTCACCTCTCCACCATCTCATTTAATTTGTAAATTTTTAGTTCTGTCTTTTCTCATTTTAACTTTTAAAAAATCTCCTTGC
TTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAAYATAGCAAATGTTGATC
ATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTGTAAGACTTGGCAAATG
CTATAGAAAAGGTTCAGGTTTCAGTATTCTCTCTGAAGGCATCATTCCTGGGCTTCCGGCAGCATCACACGCTTCCAGTGCCTGCAGGGTGAGGGTGTGT
GGCACAGAGGCAAGCAGCTCCTCTCTTCTGTAGGAGCTTTGGGTTTTCAGAGGTGCAGGGAAGGCAGTTTTACAGGTTACCGTAAAACAGAGGTTCCGTC
CAGTGTTCCTTATGATGCCTCCCCATTTAAAAAGAAAAGAGATCTATGGAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGAGCACAGTT
GCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTTKTCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATACCTTTATTT
ATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGTTTTATATATTCTTAGGTCATTCAAAGCCATGTATGCTGTAAATGTGCTAGT
CTTTAGAATGACACATAATAAATAACTGACAAGATATTAAATGTGGTCTTGCCTGATTCATCCTATTAGGAGGACTAGTTCTATGTGACCAGCCTGTGAC
TGGACCATTGTTCTTGGGCATTGCATTGAGTGCTCGGGTGCTGAATACATGTTTGTAAACATGGGACCATGGGAGACTTCCATTTTATAAGCTTGTTTCT
GCCTAATTTGAAGCAGAGGGGCAACAGCGTTGAGGTTAAGAGCACGGACTTTGGGAGCACACAGACCAGGTCCCAATCCTGGTTCTGCCCCTGACTGGCT
GGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGCRACGC
GCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTWACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCGTTGT
ATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAGGCACACAC
GRCCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT

Protein Sequence    (SEQ ID NO:1292):
MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSS
IAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDE
SLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHTSSGCQSIIYIP
QDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTL
MARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLTTLTDCVAMM
SDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTF
KVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPED
CLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMK
NVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET


SNP Information

Context             (SEQ ID NO:10438):
GAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTT
K
TCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGT
Celera SNP ID:            hCV11462754
SNP Position Transcript:  5549
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10439):
GCTCACTTACTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAA
Y
TGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACT
Celera SNP ID:            hCV29002470
SNP Position Transcript:  3641
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10440):
TGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGC
R
ACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTTACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCG
Celera SNP ID:            hCV29002471
SNP Position Transcript:  6096
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10441):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  649
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1292, 86, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1292, 86, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:10442):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1069
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1292, 226, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10443):
TTAAAAAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAA
Y
ATAGCAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTG
Celera SNP ID:            hCV15882050
SNP Position Transcript:  5084
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,391|T,1102)   total(C,391|T,1102)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10444):
TTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGCGACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGT
W
ACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGAC
Celera SNP ID:            hCV8948110
SNP Position Transcript:  6141
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10445):
TGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAGGCACACACG
R
CCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT
Celera SNP ID:            hCV3266573
SNP Position Transcript:  6302
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10446):
GCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTA
Y
TTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAATTGGATCCTA
Celera SNP ID:            hCV29002469
SNP Position Transcript:  3550
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10447):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2950
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1292, 853, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1292, 853, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10448):
GTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTAGAGGAAGATGCAGCCAG
K
GTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCATCATCCTCACATACCAGG
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1210
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1292, None   



Context             (SEQ ID NO:10449):
GAAAGATTGATAAATCAACGGGAGATAAGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGA
S
TTACAGAACAGGGAGTCTGCTGGAGACACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCC
Celera SNP ID:            hCV8948109
SNP Position Transcript:  3862
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1292, None   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT2266504 - 67000129103610
Public Transcript Accession: NM_004027
Celera Protein:              hCP1796623 - 197000064929264
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9242171..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:596):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGKGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGATGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACATACATCATCTGGCTGCCAGTCCATAATCTACATACCCC
AGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGGACAG
GTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCATCCAT
GGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACCCTCA
TGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCCTAGA
GTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAGCAAG
AAAGGTAACCCGGACAGCCACGCCTACTGGATCAGACCAGAAGACCCCTTCTGTGATGTCCCCTCCTCACCATGCCCCTCCACCATGCCCTCCRCTGCAT
GCCATCCTCATCTGACCACACATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGA
CTGCGTGGCCATGATGAGTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTAC
CGCCGTGACGTGGTCTTCTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGC
TCTACACCATCGGGCTGCTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTT
GAGGAACGTGACCTTCAAAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTC
CCTCTGCCGGGCCCGCTGTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGC
AGCAGACACTGGCCGAGAGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGA
AGTTTTGCCTGAGGATTGCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAG
AACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGG
TGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGTGAGGGTTGTCGAAG
AGAAAATACAATGAAGAATGTTGGAAGTCGCAAATATGCATTTAATTCCCTGCAGCTGAAGGCTTTCCCCAAGCATTACAGGCCTCCCGAAGGGACTTAC
GGAAAAGTTGAAACGTGAACACACGGTTTCCTCTAATTAGCTGTTACATAATAAATGTGGGTACCCTCTAGTGTCATATATGAATTCTTCAAGAAGACCT
GAAGGATTGGTTTTTATTTTTTGTGGTTTTTTTAAAAAAAACATTTCACTAAAGAGTCTCTGGAGCATGTTTTTTGTTTTTTGGGTTTTTTTCCCCATTG
GAATCAATAGGAGGTAATGTTTGGCTCAATAGTGTGGATAGTAACAACTGCCTATTTAAATTAAATAGCCTTTGGCTGTAACTACACAGATCTCATCAAT
AGTTACCTACATGAATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTAYTTTTCTACAGAGTAACTCAAAAGTA
ACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAAYTGGATCCTAGGCATACCAATAAATGTTATTTGGG
GAAAGAAGCTAGCACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACTACCACCTGAAGAAGTTGAAAGAAAGATTGATAAA
TCAACGGGAGATAAGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGASTTACAGAACAGGG
AGTCTGCTGGAGACACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCCCAGAGGACACATC
TCCCCTTCTTCTCTAGATGTTAATGTAGGGCCTCAGATGTGGCATGTCAACACTCCCATGGGGAATTTATGACCATAGAGATAGTAGAAACCTAAATATT
TTCAGAAAAAAAATTTTTTTTGCAGGATTTCCAATTTATCTTTGAAAAGACAGTACAATCATGTTTGAATGTCTGATGAAAGTGTCTTATTTTTAGGTTT
GCAATAATTGTTACTTTCTTATTCTCATTCTTATGTAAGATGACTATTGAGAAACAGTTGAAATTTATTCTCCTCAAATGAGATTTTGAAAGGGATTTAT
GGGCCATAAAACTTAGGAATTTCATAGAAAATTTTGTCTGGTCATCTTTTATAAGATGATGATGAGTCTTATCTGCACATAGCAGAGTTTGTTTCTTAGG
AGTTTATATGTTTTATTGATTCTGTTTACGATGTTTACATGTTCTTGAAAAGGTTGTAAAAGAAATACATATGGCACATATTAATGATGCTGATCCTAAT
GATTTGTGAACCTCTTAGAAATTCTTTTGTCTAAAAGCCTAGAGATTCTTCTGGTTCCTTTAGAAACATGTAACAAACTTGGGCCAGGGGTGCTGAGGCA
TGGGGAGGACTGCTTATTGGCAGGAACACAGAGGGGGTGGGCATCAGGTAGGGTGGAACTGGATGACCTTCCAGACCCCCTCCTACTCAGAAGTCAGCAT
GCAAGCAGCGCCTGCTGTCTCCCGATGCCTGCAGGGAGGAAAATGTCTGTGAAGGACACTTTAATGAAGGACGAAGCTCTCTGCTGCTCCCTCAAAGCTG
AGTTCACTGTGGCAGGCAGGAAGCAGAGAAGCTCCTGCCCGCCAAACCCACTGCACAGGTGGCTGCTGCTGGTATCAGATTCTCCTTTTTAAGTGTCAAT
TTCTGTTCACAGACAGTTTGTTTTCAATATGGCTGATTTACCCTTTCACCTCTCCACCATCTCATTTAATTTGTAAATTTTTAGTTCTGTCTTTTCTCAT
TTTAACTTTTAAAAAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATC
AAAGGGAAYATAGCAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACC
ATAAAACTGTAAGACTTGGCAAATGCTATAGAAAAGGTTCAGGTTTCAGTATTCTCTCTGAAGGCATCATTCCTGGGCTTCCGGCAGCATCACACGCTTC
CAGTGCCTGCAGGGTGAGGGTGTGTGGCACAGAGGCAAGCAGCTCCTCTCTTCTGTAGGAGCTTTGGGTTTTCAGAGGTGCAGGGAAGGCAGTTTTACAG
GTTACCGTAAAACAGAGGTTCCGTCCAGTGTTCCTTATGATGCCTCCCCATTTAAAAAGAAAAGAGATCTATGGAAAACTGGGAATGTAATGTGGATTCT
GTCAGAGCTCCTACAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTTKTCCCTACACAATTGTATTTGCCAAGC
TTAGTGCATTATGATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGTTTTATATATTCTTAGGTCATTCAAAG
CCATGTATGCTGTAAATGTGCTAGTCTTTAGAATGACACATAATAAATAACTGACAAGATATTAAATGTGGTCTTGCCTGATTCATCCTATTAGGAGGAC
TAGTTCTATGTGACCAGCCTGTGACTGGACCATTGTTCTTGGGCATTGCATTGAGTGCTCGGGTGCTGAATACATGTTTGTAAACATGGGACCATGGGAG
ACTTCCATTTTATAAGCTTGTTTCTGCCTAATTTGAAGCAGAGGGGCAACAGCGTTGAGGTTAAGAGCACGGACTTTGGGAGCACACAGACCAGGTCCCA
ATCCTGGTTCTGCCCCTGACTGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTAC
CTTCCTCATAAGGAACGTGCRACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTWACCTTCCCGTCTGTGAACATGGATCACATCATCT
CTGTGGGTAACCCAGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACC
ACTGTGCCGTCTTCTAGGCACACACGRCCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCT
TGGAGTTTTT

Protein Sequence    (SEQ ID NO:1293):
MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSS
IAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDE
SLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHTSSGCQSIIYIP
QDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTL
MARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKGNPDSHAYWIRPEDPFCDVPSSPCPSTMPSTA
CHPHLTTHCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQ
LYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINE
QQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMS
VTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET


SNP Information

Context             (SEQ ID NO:10450):
GAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTT
K
TCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGT
Celera SNP ID:            hCV11462754
SNP Position Transcript:  5674
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10451):
GCTCACTTACTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAA
Y
TGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACT
Celera SNP ID:            hCV29002470
SNP Position Transcript:  3766
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10452):
TGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGC
R
ACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTTACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCG
Celera SNP ID:            hCV29002471
SNP Position Transcript:  6221
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10453):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1293, 86, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1293, 86, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:10454):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1293, 226, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10455):
TTAAAAAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAA
Y
ATAGCAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTG
Celera SNP ID:            hCV15882050
SNP Position Transcript:  5209
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,391|T,1102)   total(C,391|T,1102)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10456):
TTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGCGACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGT
W
ACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGAC
Celera SNP ID:            hCV8948110
SNP Position Transcript:  6266
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10457):
TGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAGGCACACACG
R
CCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT
Celera SNP ID:            hCV3266573
SNP Position Transcript:  6427
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10458):
GCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTA
Y
TTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAATTGGATCCTA
Celera SNP ID:            hCV29002469
SNP Position Transcript:  3675
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10459):
CAGCAAGAAAGGTAACCCGGACAGCCACGCCTACTGGATCAGACCAGAAGACCCCTTCTGTGATGTCCCCTCCTCACCATGCCCCTCCACCATGCCCTCC
R
CTGCATGCCATCCTCATCTGACCACACATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCT
Celera SNP ID:            hCV3266578
SNP Position Transcript:  2194
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;JBIC-allele(G,415|A,1066)   total(G,415|A,1066)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1293, 599, (T,ACT)   (A,GCT)      



Context             (SEQ ID NO:10460):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  3075
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1293, 892, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1293, 892, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10461):
GTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTAGAGGAAGATGCAGCCAG
K
GTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCATCATCCTCACATACCAGG
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1218
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1293, None   



Context             (SEQ ID NO:10462):
GAAAGATTGATAAATCAACGGGAGATAAGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGA
S
TTACAGAACAGGGAGTCTGCTGGAGACACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCC
Celera SNP ID:            hCV8948109
SNP Position Transcript:  3987
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1293, None   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT2266507 - 67000129103668
Public Transcript Accession: NM_004027
Celera Protein:              hCP1796628 - 197000064929269
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9250634..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:597):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGKGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGATGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACATACATCATCTGGCTGCCAGTCCATAATCTACATACCCC
AGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGGACAG
GTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCATCCAT
GGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACCCTCA
TGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCCTAGA
GTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAGCAAG
AAAGATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATGATGA
GTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTACCGCCGTGACGTGGTCTT
CTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGCTCTACACCATCGGGCTG
CTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACCTTCA
AAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCCCGCT
GTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGCAGCAGACACTGGCCGAG
AGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAGGATT
GCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTG
GCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGC
CTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGCATTGGAACACGGGAGGTAGTCACCCAGAAGA
ACTTGAGCGGCCTGGTGCCCATCCGAGACTTAAGGCTAGACCCCAGCCTCCTCTGTTCCATCCCTTTATTAGCTCTGAGCCCCAATTTACTGATTGTGTG
GCTCTTTCTGAGCATAGCATACCTGGTGACCAAATTGCGTTGCAAATGAATATCATTATGAAAAATTAATAAGTCACAAGAAAAACAAAAGTGCCAGAAC
ATGTCCAGCCACCGTGTACCTAACTGGACAGAAGGAATGTGTCAAACCGTGGTCTGCCAAGAAATATTTCATGCCTTACATTTTGACGTTTTGTTCTTCT
GAACTGTAAATATCTGCCAAATTATTTCACCAAGAAGACTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAACATGTTCTTACGGTGCCCTGTC
ACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCACRTCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCTCTCATGTGCCCTGTTTCCAAG
AGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGATACTATTCTTTAAGTGTACTGCTAACCCTTCCTTTCCTTTTGATGACAAACGAAAAGAAAAA
AACATGCTTTATAACTGGCTTATCTAGAAAAACCTATCTAATAGGACATGTACTTTCTGCTTTCATTTCAAAGCGTAGTCCCTGAATTACAGTAGCAAAC
AGTTTGCAGAATCCTACCATTTCCTTGCTT

Protein Sequence    (SEQ ID NO:1294):
MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSS
IAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDE
SLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHTSSGCQSIIYIP
QDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTL
MARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLTTLTDCVAMM
SDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTF
KVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPED
CLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSIGTREVVTQK
NLSGLVPIRDLRLDPSLLCSIPLLALSPNLLIVWLFLSIAYLVTKLRCK


SNP Information

Context             (SEQ ID NO:10463):
CTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAACATGTTCTTACGGTGCCCTGTCACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCAC
R
TCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCTCTCATGTGCCCTGTTTCCAAGAGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGAT
Celera SNP ID:            hCV27514044
SNP Position Transcript:  3539
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,56|G,1445)   total(G,1445|A,56) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1294, None   



Context             (SEQ ID NO:10464):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2958
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1294, 853, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1294, 853, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10465):
GTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTAGAGGAAGATGCAGCCAG
K
GTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCATCATCCTCACATACCAGG
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1218
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1294, None   



Context             (SEQ ID NO:10466):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1294, 86, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1294, 86, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:10467):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1294, 226, (G,GGC)   (G,GGT)   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT2266505 - 67000129103523
Public Transcript Accession: NM_004027
Celera Protein:              hCP1796621 - 197000064929262
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9242171..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:598):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGAGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGKTGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACAGTAATACATCATCTGGCTGCCAGTCCATAATCTACATA
CCCCAGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGG
ACAGGTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAGCTCCTGGCCAACTCCAT
CCATGGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACC
CTCATGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCTGAACGTGGACAAGAGCC
TAGAGTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGTGCAGGCAGCTGCACCAG
CAAGAAAGATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATG
ATGAGTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCAGTACCGCCGTGACGTGG
TCTTCTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAGCTCTACACCATCGG
GCTGCTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACC
TTCAAAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCC
CGCTGTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAGCAGCAGACACTGGC
CGAGAGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAG
GATTGCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTC
TCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCA
GTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGTGAGGGTTGTCGAAGAGAAAATACAATG
AAGAATGTTGGAAGTCGCAAATATGCATTTAATTCCCTGCAGCTGAAGGCTTTCCCCAAGCATTACAGGCCTCCCGAAGGGACTTACGGAAAAGTTGAAA
CGTGAACACACGGTTTCCTCTAATTAGCTGTTACATAATAAATGTGGGTACCCTCTAGTGTCATATATGAATTCTTCAAGAAGACCTGAAGGATTGGTTT
TTATTTTTTGTGGTTTTTTTAAAAAAAACATTTCACTAAAGAGTCTCTGGAGCATGTTTTTTGTTTTTTGGGTTTTTTTCCCCATTGGAATCAATAGGAG
GTAATGTTTGGCTCAATAGTGTGGATAGTAACAACTGCCTATTTAAATTAAATAGCCTTTGGCTGTAACTACACAGATCTCATCAATAGTTACCTACATG
AATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTAYTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTAC
AATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAAYTGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGC
ACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACTACCACCTGAAGAAGTTGAAAGAAAGATTGATAAATCAACGGGAGATA
AGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGASTTACAGAACAGGGAGTCTGCTGGAGA
CACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCCCAGAGGACACATCTCCCCTTCTTCTC
TAGATGTTAATGTAGGGCCTCAGATGTGGCATGTCAACACTCCCATGGGGAATTTATGACCATAGAGATAGTAGAAACCTAAATATTTTCAGAAAAAAAA
TTTTTTTTGCAGGATTTCCAATTTATCTTTGAAAAGACAGTACAATCATGTTTGAATGTCTGATGAAAGTGTCTTATTTTTAGGTTTGCAATAATTGTTA
CTTTCTTATTCTCATTCTTATGTAAGATGACTATTGAGAAACAGTTGAAATTTATTCTCCTCAAATGAGATTTTGAAAGGGATTTATGGGCCATAAAACT
TAGGAATTTCATAGAAAATTTTGTCTGGTCATCTTTTATAAGATGATGATGAGTCTTATCTGCACATAGCAGAGTTTGTTTCTTAGGAGTTTATATGTTT
TATTGATTCTGTTTACGATGTTTACATGTTCTTGAAAAGGTTGTAAAAGAAATACATATGGCACATATTAATGATGCTGATCCTAATGATTTGTGAACCT
CTTAGAAATTCTTTTGTCTAAAAGCCTAGAGATTCTTCTGGTTCCTTTAGAAACATGTAACAAACTTGGGCCAGGGGTGCTGAGGCATGGGGAGGACTGC
TTATTGGCAGGAACACAGAGGGGGTGGGCATCAGGTAGGGTGGAACTGGATGACCTTCCAGACCCCCTCCTACTCAGAAGTCAGCATGCAAGCAGCGCCT
GCTGTCTCCCGATGCCTGCAGGGAGGAAAATGTCTGTGAAGGACACTTTAATGAAGGACGAAGCTCTCTGCTGCTCCCTCAAAGCTGAGTTCACTGTGGC
AGGCAGGAAGCAGAGAAGCTCCTGCCCGCCAAACCCACTGCACAGGTGGCTGCTGCTGGTATCAGATTCTCCTTTTTAAGTGTCAATTTCTGTTCACAGA
CAGTTTGTTTTCAATATGGCTGATTTACCCTTTCACCTCTCCACCATCTCATTTAATTTGTAAATTTTTAGTTCTGTCTTTTCTCATTTTAACTTTTAAA
AAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAAYATAG
CAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTGTAAG
ACTTGGCAAATGCTATAGAAAAGGTTCAGGTTTCAGTATTCTCTCTGAAGGCATCATTCCTGGGCTTCCGGCAGCATCACACGCTTCCAGTGCCTGCAGG
GTGAGGGTGTGTGGCACAGAGGCAAGCAGCTCCTCTCTTCTGTAGGAGCTTTGGGTTTTCAGAGGTGCAGGGAAGGCAGTTTTACAGGTTACCGTAAAAC
AGAGGTTCCGTCCAGTGTTCCTTATGATGCCTCCCCATTTAAAAAGAAAAGAGATCTATGGAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTA
CAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTTKTCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATG
ATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGTTTTATATATTCTTAGGTCATTCAAAGCCATGTATGCTGT
AAATGTGCTAGTCTTTAGAATGACACATAATAAATAACTGACAAGATATTAAATGTGGTCTTGCCTGATTCATCCTATTAGGAGGACTAGTTCTATGTGA
CCAGCCTGTGACTGGACCATTGTTCTTGGGCATTGCATTGAGTGCTCGGGTGCTGAATACATGTTTGTAAACATGGGACCATGGGAGACTTCCATTTTAT
AAGCTTGTTTCTGCCTAATTTGAAGCAGAGGGGCAACAGCGTTGAGGTTAAGAGCACGGACTTTGGGAGCACACAGACCAGGTCCCAATCCTGGTTCTGC
CCCTGACTGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGG
AACGTGCRACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTWACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCC
AGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTT
CTAGGCACACACGRCCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT

Protein Sequence    (SEQ ID NO:1295):
MEDQIRTTTSSPLGRQQHTAKVLSQEVSAKSCTNLKRPRNSNTSSGCQSIIYIPQDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAIL
ADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQK
ERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFI
IKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGM
LLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGV
RFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET


SNP Information

Context             (SEQ ID NO:10468):
GAAAACTGGGAATGTAATGTGGATTCTGTCAGAGCTCCTACAGAGCACAGTTGCCTTTAGTTTCCTTTAAAGATGTAAAAATATTGTATAATACAGTTTT
K
TCCCTACACAATTGTATTTGCCAAGCTTAGTGCATTATGATACCTTTATTTATTTGTTTTGGGCAGTATTACTATATATATATAAACATACAGTTACTGT
Celera SNP ID:            hCV11462754
SNP Position Transcript:  5561
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10469):
GCTCACTTACTTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAA
Y
TGGATCCTAGGCATACCAATAAATGTTATTTGGGGAAAGAAGCTAGCACTATCTCATGCAGTGAGAATAACGGGTTCTAGTGAATTATCCTATCTACACT
Celera SNP ID:            hCV29002470
SNP Position Transcript:  3653
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10470):
TGGCTGGTGACTCTGAGCAAGTTGCTTGACCTCTCCAAGCCTCCGTTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGC
R
ACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGTTACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCG
Celera SNP ID:            hCV29002471
SNP Position Transcript:  6108
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10471):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1295, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10472):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1295, None



Context             (SEQ ID NO:10473):
TTAAAAAATCTCCTTGCTTTTTAAAAATAAATATTACCCACATAGTTTTCAGATCTTTTTTGTCTGGAGAGCATTAAATATCTGCACTCATCAAAGGGAA
Y
ATAGCAAATGTTGATCATCTGTCAGCAGTTTTGCATGTGACACCTTTATATGAATTATTTTCCCAATTTTTGCTCTATGTAATGGGTCACCATAAAACTG
Celera SNP ID:            hCV15882050
SNP Position Transcript:  5096
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,391|T,1102)   total(C,391|T,1102)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10474):
TTTCCTCATGTGCAAAGTGTGGACAACAACAGTACCTTCCTCATAAGGAACGTGCGACGCGCCTCAGAAGTACGTGTTCATAAATGGTAGCCATTGTTGT
W
ACCTTCCCGTCTGTGAACATGGATCACATCATCTCTGTGGGTAACCCAGTCCTCGTTGTATGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGAC
Celera SNP ID:            hCV8948110
SNP Position Transcript:  6153
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10475):
TGACTTGTCAAAATGCAGTTCCACTTGTATTAATATTGACCCTGTTCATCGTCACCAGGACTGCATCTTGCACCACTGTGCCGTCTTCTAGGCACACACG
R
CCCGTTATCTCCCTTGGAAAAATTCCTCTCACTGGAAATGTACAATTAAAGGATGATTGAAATGTTTAACTCTTGGAGTTTTT
Celera SNP ID:            hCV3266573
SNP Position Transcript:  6314
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,3)   total(G,2|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10476):
GCTGTAACTACACAGATCTCATCAATAGTTACCTACATGAATCAAGCTAGGTTTGTCTGAAATGCTAGAAGACTTTTTCAAATGCCTGCTTGCTCACTTA
Y
TTTTCTACAGAGTAACTCAAAAGTAACCATTGAATTACAATCCACTTTGTAAAAATCTGAATGTAAAACAGTAAATAATAAATTAAATAATTGGATCCTA
Celera SNP ID:            hCV29002469
SNP Position Transcript:  3562
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10477):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2962
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1295, 507, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1295, 507, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10478):
TACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGTTCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACG
K
TGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGCCAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAA
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1442
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1295, None   



Context             (SEQ ID NO:10479):
GAAAGATTGATAAATCAACGGGAGATAAGACTTTATTAGAAGGTAACACCTGCAAGGTACCCCACATAGTTGGGGCCACTCTTTTTTCTGTCCCTTATGA
S
TTACAGAACAGGGAGTCTGCTGGAGACACAAAGCCAGCAGTAAGGTCCCTTTAGCCTGTCTCCTGTTCTCTGAAGCTCCCTGCCGAGGCTCCCTCACGCC
Celera SNP ID:            hCV8948109
SNP Position Transcript:  3874
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1295, None   



Gene Number:                 233
Celera Gene:                 hCG38423 - 67000129103493
Celera Transcript:           hCT2266503 - 67000129103581
Public Transcript Accession: NM_004027
Celera Protein:              hCP1796627 - 197000064929268
Public Protein Accession:    NP_004018
Gene Symbol:                 INPP4A
Protein Name:                inositol polyphosphate-4-phosphatase, type I, 107kDa;INPP4
Celera Genomic Axis:         GA_x5YUV32W6FK(9250634..9388124)
Chromosome:                  Chr2
OMIM number:                 600916
OMIM Information:            INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD;INPP4A


Transcript Sequence (SEQ ID NO:599):
CCCGGCGTCTAGAGCGGCGGCGGCTGGCTAGGGCTGCGGCGCGCGTGGAGGGTTCGCTGCTGGTTTGCCGCCGGGTCGGGCTCCGTGGGCCGGGGCAGGA
GGACCAGCACCTGAGGCCGGGCCCGCAGCCCGCGACTTCACAGCCAGGCGGCGGCGCTGCTGCTGCTGCGGGGCTCTGGCGCGCAGCCCGGCGGGACAGC
GGGGCGGCTGGCGCCGGGGGCCGGGGAGCGCCAGATGATGGATTTGGACATGCTTCTATGAAGAAATGCCACATGGTCCGAGAGCAAACATGTCCAGGCT
ACTGCCACTTTAGTGGACTAGGGCTCGGTGCCAGCACTTCCCGGGTAATCAGGCGTGGTCTGACCGAGGATCAAGAAGCACATCATCACCAATGACATCA
TGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCTTCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCT
GGCAGGAAATATACAAGACCCAGATGAGCCCATTTTAGAATTTAGCTTAGCTTGCAGTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTT
GTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGACRGAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTA
TTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTATGATGTCAAAGATAGATCTCAGGGAACAATGTATTTACTGGG
CTCTGGAACGTTCATTGTCAAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAGGTCTGCAGAGAGTGACCGTGTAGGTAACATCACC
GTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGGCCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGGATGGTTCTTCCTGTCGATGAGA
GCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGGYGGTGCCATCTGCCGCATGTACCG
GTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGGCAGTTCGTGAAGCTCCTACTA
GAGGAAGATGCAGCCAGAGTGTGTGAGCTGGAGGAGCTGGGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACCA
TCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAGGGCCCTCGTTTAAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGT
TCCCACAAACTTGCACATACAAAGGATGAGAGTTCAAGACGATGGAGGATCAGATCAGAACTACGACATCGTCACCATTGGGGCGCCAGCAGCACACTGC
CAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCACAAATTTGAAGAGACCAAGAAACAGTAAGTAGCCAGAGAGGGTTTTACATCATCTGGCTGCC
AGTCCATAATCTACATACCCCAGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTGAGTTACTACGCAGAGCGGCT
GTCAAGGGCAGCCAAGGACAGGTCTGCCACTGGCCTTGAGAGGACACTCGCCATCTTGGCAGACAAGACACGGCAGCTGGTCACGGTCTGCGACTGCAAG
CTCCTGGCCAACTCCATCCATGGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGKTGCTTA
GAAATGACCAGGACACCCTCATGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGTGTGGCT
GAACGTGGACAAGAGCCTAGAGTGCATCATTCAGCGTGTGGACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGT
GCAGGCAGCTGCACCAGCAAGAAAGATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAGGTGAATGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCA
CCGACTGCGTGGCCATGATGAGTGACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCCACCTACCTGAGCCTGCA
GTACCGCCGTGACGTGGTCTTCTGCCAGACGCTGACCGCCCTCATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGC
CAGCTCTACACCATCGGGCTGCTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACGGGGAGGAGCTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGG
ACTTGAGGAACGTGACCTTCAAAGTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCGCGACGGGTTTAACGTGCG
GGTCCCTCTGCCGGGCCCGCTGTTTGACGCCTTGCCCCGGGAGATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAAT
GAGCAGCAGACACTGGCCGAGAGGTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAGAGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTA
AGGAAGTTTTGCCTGAGGATTGCCTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAACGTGCATGCCCGGAAGAA
TAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGNGCTAAGGACCGTACAGCCATG
TCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGTGCATGCGCAGCATTGGAACAC
GGGAGGTAGTCACCCAGAAGAACTTGAGCGGCCTGGTGCCCATCCGAGACTTAAGGCTAGACCCCAGCCTCCTCTGTTCCATCCCTTTATTAGCTCTGAG
CCCCAATTTACTGATTGTGTGGCTCTTTCTGAGCATAGCATACCTGGTGACCAAATTGCGTTGCAAATGAATATCATTATGAAAAATTAATAAGTCACAA
GAAAAACAAAAGTGCCAGAACATGTCCAGCCACCGTGTACCTAACTGGACAGAAGGAATGTGTCAAACCGTGGTCTGCCAAGAAATATTTCATGCCTTAC
ATTTTGACGTTTTGTTCTTCTGAACTGTAAATATCTGCCAAATTATTTCACCAAGAAGACTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAAC
ATGTTCTTACGGTGCCCTGTCACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCACRTCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCT
CTCATGTGCCCTGTTTCCAAGAGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGATACTATTCTTTAAGTGTACTGCTAACCCTTCCTTTCCTTTT
GATGACAAACGAAAAGAAAAAAACATGCTTTATAACTGGCTTATCTAGAAAAACCTATCTAATAGGACATGTACTTTCTGCTTTCATTTCAAAGCGTAGT
CCCTGAATTACAGTAGCAAACAGTTTGCAGAATCCTACCATTTCCTTGCTT

Protein Sequence    (SEQ ID NO:1296):
MLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKDCSPPPEESSPGEWSEALYPLLT
TLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLG
IMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFE
QFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSI
GTREVVTQKNLSGLVPIRDLRLDPSLLCSIPLLALSPNLLIVWLFLSIAYLVTKLRCK


SNP Information

Context             (SEQ ID NO:10480):
CTTGTTTGTTTAGCTCCTGTAGCATCTTCAGTGCTTGTAACATGTTCTTACGGTGCCCTGTCACTGCATCGTTTAGCTGGCCTGGAATTCCTTGTACCAC
R
TCTCTACCTTCTGATGTACAACTATTTATCACCTGTACCTCTCATGTGCCCTGTTTCCAAGAGAAACGAGTTCTGTTTAAAGAGAATTTGTATATTTGAT
Celera SNP ID:            hCV27514044
SNP Position Transcript:  3560
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,56|G,1445)   total(G,1445|A,56) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1296, None   



Context             (SEQ ID NO:10481):
AGAACGTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAGATCTGCCGCCGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAG
N
GCTAAGGACCGTACAGCCATGTCGGTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTCACCCAGGCCCTGGAGT
Celera SNP ID:            hCV15972029
SNP Position Transcript:  2979
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,7|T,1)   total(C,35|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1296, 362, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,382|G,1105)   total(G,1105|A,382) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1296, 362, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:10482):
CTGCAAGCTCCTGGCCAACTCCATCCATGGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAGGCCTCTCCCACTTCGACTGAGGAGGAGCAGGTG
K
TGCTTAGAAATGACCAGGACACCCTCATGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAGGAGTGGGAGAAAGT
Celera SNP ID:            hCV3266579
SNP Position Transcript:  1894
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,9)   total(G,9|T,1) 
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1296, None   



Context             (SEQ ID NO:10483):
GTGAGCTGCATACTCCATCGCTAGATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGGACGAAGCATGCACAGAC
R
GAGATCATTGAGGGAACCAACAATCCTATATTTCTAAGCAGTATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGT
Celera SNP ID:            hCV15964844
SNP Position Transcript:  657
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,21)   caucasian(A,1|G,9)   total(A,2|G,30)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1296, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,387|G,1110)   total(G,1110|A,387) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1296, None   



Context             (SEQ ID NO:10484):
GGATGGTTCTTCCTGTCGATGAGAGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTGCTGAAATCGGTGTTCGG
Y
GGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGTAACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCC
Celera SNP ID:            hCV25983265
SNP Position Transcript:  1077
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,25)   caucasian(C,1|T,27)   total(C,6|T,52)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1296, None



Gene Number:                 234
Celera Gene:                 hCG38474 - 30000054109502
Celera Transcript:           hCT29717 - 30000054109515
Public Transcript Accession: NM_001257
Celera Protein:              hCP49520 - 197000069427589
Public Protein Accession:    NP_001248
Gene Symbol:                 CDH13
Protein Name:                cadherin 13, H-cadherin (heart);CDHH
Celera Genomic Axis:         GA_x5YUV32W3V0(4406396..5579106)
Chromosome:                  Chr16
OMIM number:                 601364
OMIM Information:            CADHERIN 13;CDH13


Transcript Sequence (SEQ ID NO:600):
ATCTATTTGGGAAGTTGGCTGGCTGGCGAGGCAGAGCCTCTCCTCAAAGCCTGGCTCCCACGGAAAATATGCTCAGTGCAGCCGCGTGCATGAATGAAAA
CGCCGCCGGGCGCTTCTAGTCGGACAAAATGCAGCCGAGAACTCCGCTCGTTCTGTGCGTTCTCCTGTCCCAGGTGCTGCTGCTAACATCTGCAGAAGAT
TTGGACTGCACTCCTGGATTTCAGCAGAAAGTGTTCCATATCAATCAGCCAGCTGAATTCATTGAGGACCAGTCAATTCTAAACTTGACCTTCAGTGACT
GTAAGGGAAACGACAAGCTACGCTATGAGGTCTCVAGCCCATACTTCAAGGTGAACAGCGATGGCGGCTTAGTTGCTCTGAGAAACATAACTGCAGTGGG
CAAAACTCTGTTCGTCCATGCACGGACCCCCCATGCGGAAGATATGGCAGAACTCGTGATTGTCGGGGGGAAAGACATCCAGGGCTCCTTGCAGGATATA
TTTAAATTTGCAAGAACTTCTCCTGTCCCAAGACAAAAGAGGTCCATTGTGGTATCTCCCATTTTAATTCCAGAGAATCAGAGACAGCCTTTCCCAAGAG
ATGTTGGCAAGGTAGTCGATAGTGACAGGCCAGAAAGGTCCAAGTTCCGGCTCACTGGAAAGGGAGTGGATCAAGAGCCTAAAGGAATTTTCAGAATCAA
TGAGAACACAGGGAGCGTCTCCGTGACACGGACCTTGGACAGAGAAGTAATCGCTGTTTATCAACTATTTGTGGAGACCACTGATGTCAATGGCAAAACT
CTCGAGGGGCCGGTGCCTCTGGAAGTCATTGTGATTGATCAGAATGACAACCGACCGATCTTTCGGGAAGGCCCCTACATCGGCCACGTCATGGAAGGGT
CACCCACAGGCACCACAGTGATGCGGATGACAGCCTTTGATGCAGATGACCCAGCCACCGATAATGCCCTCCTGCGGTATAATATCCGTCARCAGACGCC
TGACAAGCCATCTCCCAACATGTTCTACATCGATCCTGAGAAAGGAGACATTGTCACTGTTGTGTCACCTGCGCTGCTGGACCGAGAGACTCTGGAAAAT
CCCAAGTATGAACTGATCATCGAGGCTCAAGATATGGCTGGACTGGATGTTGGATTAACAGGCACGGCCACAGCCACGATCATGATCGATGACAAAAATG
ATCACTCACCAAAATTCACCAAGAAAGAGTTTCAAGCCACAGTCGAGGAAGGARCTGTGGGAGTTATTGTCAATTTGACAGTTGAAGATAAGGATGACCC
CACCACAGGTGCATGGAGGGCTGCCTACACCATCATCAAYGGAAACCCCGGGCAGAGCTTTGAAATCCACACCAACCCTCAAACCAACGAAGGGATGCTT
TCTGTTGTCAAACCATTGGACTATGAAATTTCTGCCTTCCACACCCTGCTGATCAAAGTGGAAAATGAAGACCCACTCGTACCCGAYGTCTCCTACGGCC
CCAGCTCCACAGCCACCGTCCACATCACTGTCCTGGATGTCAACGAGGGCCCAGTCTTCTACCCAGACCCCATGATGGTGACCAGGCAGGAGGACCTCTC
TGTGGGCAGCGTGCTGCTGACAGTGAATGCCACGGACCCCGACTCCCTGCAGCATCAAACCATCAGGTATTCTGTTTACAAGGACCCAGCAGGTTGGCTG
AATATTAACCCCATCAATGGGACTGTTGACACCACAGCTGTGCTGGACCGTGAGTCCCCATTTGTCGACAACAGCGTGTACACTGCTCTCTTCCTGGCAA
TTGACAGTGGCAACCCTCCCGCTACGGGCACTGGGACTTTGCTGATAACCCTGGAGGACGTGAATGACAATGCCCCGTTCATTTACCCCACAGTAGCTGA
AGTCTGTGATGATGCCAAAAACCTCAGTGTAGTCATTTTGGGAGCATCAGATAAGGATCTTCACCCGAATACAGATCCTTTCAAATTTGAAATCCACAAA
CAAGCTGTTCCTGATAAAGTCTGGAAGATCTCCAAGATCAACAATACACACGCCCKGGTAAGCCTTCTTCAAAATCTGAACAAAGCAAACTACAACCTGC
CCATCATGGTGACAGATTCAGGGAAACCACCCATGACGAATATCACAGATCTCAGGGTACAAGTGTGCTCCTGCAGGAATTCCAAAGTGGACTGCAACGC
GGCRGGGGCCCTGCGCTTCAGCCTGCCCTCAGTCCTGCTCCTCAGCCTCTTCAGCTTAGCTTGTCTGTGAGAACTCCTGACGTCTGAAGCTTGACTCCCA
AGTTTCCATAGCAACAGGAAAAAAAAAAATCTATCCAAATCTGAAGATTGCGGTTTACAGCTATCGAACTTCACAACTAGGCCTCAATTGTTCCGGTTTT
TTATTTTCTTTACAATTTCACTTAGTCTGTACTTCATCATTTTGACAGCATCTTCCTCCCTCCTTTAATTAATGGAATCTTCTGAATTTTCCCTGAATGT
TTAAAGATCATGACATATGACTTGATCTTCTGGGAGCAGGAACAATGACTACTTTTTCTGGTGTGTTAACATGTCGCTAGCCAGTGCTCCAGGCACCCAG
CTTTGTCTGTGGGTTAGTATTGGTGTATGTATGAGTATCTGTATGTRTATAYRCACGGTATTTATAGAGAGAGACTATCCTGGAGAAGCCTCGTTTTGAT
GCCATTCTTCCTTGCAAGGTTAAGCAAGGTGGGTGGAAACTAAGACACCTGAACCCTCCAGGGYCTCCCGCATCAAGGTCAGCATGAGGACAGACCACAG
AGCTGTCACTTTTGCTCCGAAGCTACTTCTCCACTGTCCCGTTCAGTCTGAATGCTGCCACAACCAGCCAGGCAGGTCCACAGAGAGGGAGAGCAGAGAA
AGAAGTCCTTTCTCTTTATTGAGTTCGAGGACTACAACCAATTTACACTGCCATCTGATGCCGTGATCCTGAGCCAAGGAGGTGAGGAGCAGAGCAGGCA
ATTTCACCACCAAATGCCAAGAAAAGGGCTGACATTTTCTTTCATGGGCACCAACCTGCATTTGTATGTGTCCCGAATCCACAGTCGTACTGATTCTAAT
GGGGACACAGATCATGGTAGAGAATCTCTCCCTCCTCAGTAAATGTACAACTGCACCTGTYATCATGGAGGTCATACATGSATACAAAGAGGTGTACAGG
TACCATCTTGTATACACATATATACCCACATGTACAGACATACATTTATGCACATTCACGCTGTTTGTTTCATATATACAGGCATAAAATAGAGTAAATA
CAGGTAGTTTTAAAAGTACCCTTTTGTGTGAATTGACTACCGTTGTTTGCAAACCCGAAAATAAAAGACGTTCATTATGTAYGAAAAGTAACTGATTTGT
ATTCTGTGAGCATGTAAAAGCGGAAAGTTAGTGCTTGTTCTAAGATTACCTYCTTGTTGATAAACCATAAATGAATCATCAAAGCTCACACCAAATTTTT
CTATCAAATAAAACTAGTGACAGCTTGTGGCTTTTTATTAGAGCTCGCCACGAACTAGGGTAAGGTGAGTGTCTTAGCATATTTTAATGCAGTTGCTTAC
TAAAGGTTTTAACCGCACATGCACACACACACGCTTTCTTATGCAATCTATGTTTGCACTTGTGCTTTCAGTTAGCCTTCTGTAGGAAGTAGAAGTCATA
TGTTGTCTTTGTTGTAGTGAAATTATACAGATAGAGTTCCATATATTGTATTTGTTTCAATGGTAAATCCTTTTGGAACATATAGAATGCAGAGATTTTT
TTTTCCATTAAAATAAATGGGTATTGGTGGTTAAAACTGCTGGACAGTAACTG

Protein Sequence    (SEQ ID NO:1297):
MQPRTPLVLCVLLSQVLLLTSAEDLDCTPGFQQKVFHINQPAEFIEDQSILNLTFSDCKGNDKLRYEVSSPYFKVNSDGGLVALRNITAVGKTLFVHART
PHAEDMAELVIVGGKDIQGSLQDIFKFARTSPVPRQKRSIVVSPILIPENQRQPFPRDVGKVVDSDRPERSKFRLTGKGVDQEPKGIFRINENTGSVSVT
RTLDREVIAVYQLFVETTDVNGKTLEGPVPLEVIVIDQNDNRPIFREGPYIGHVMEGSPTGTTVMRMTAFDADDPATDNALLRYNIRQQTPDKPSPNMFY
IDPEKGDIVTVVSPALLDRETLENPKYELIIEAQDMAGLDVGLTGTATATIMIDDKNDHSPKFTKKEFQATVEEGAVGVIVNLTVEDKDDPTTGAWRAAY
TIINGNPGQSFEIHTNPQTNEGMLSVVKPLDYEISAFHTLLIKVENEDPLVPDVSYGPSSTATVHITVLDVNEGPVFYPDPMMVTRQEDLSVGSVLLTVN
ATDPDSLQHQTIRYSVYKDPAGWLNINPINGTVDTTAVLDRESPFVDNSVYTALFLAIDSGNPPATGTGTLLITLEDVNDNAPFIYPTVAEVCDDAKNLS
VVILGASDKDLHPNTDPFKFEIHKQAVPDKVWKISKINNTHALVSLLQNLNKANYNLPIMVTDSGKPPMTNITDLRVQVCSCRNSKVDCNAAGALRFSLP
SVLLLSLFSLACL


SNP Information

Context             (SEQ ID NO:10485):
TGTATTTGTTTCAATGGTAAATCCTTTTGGAACATATAGAATGCAGAGATTTTTTTTTCCATTAAAATAAATGGGTATTGGTGGTTAAAACTGCTGGACA
G
TAACTG
Celera SNP ID:            hCV2844271
SNP Position Transcript:  3847
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|-,7)   total(G,1|-,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10486):
GACTACTTTTTCTGGTGTGTTAACATGTCGCTAGCCAGTGCTCCAGGCACCCAGCTTTGTCTGTGGGTTAGTATTGGTGTATGTATGAGTATCTGTATGT
R
TATATACACGGTATTTATAGAGAGAGACTATCCTGGAGAAGCCTCGTTTTGATGCCATTCTTCCTTGCAAGGTTAAGCAAGGTGGGTGGAAACTAAGACA
Celera SNP ID:            hCV27475593
SNP Position Transcript:  2647
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10487):
TTTTTCTGGTGTGTTAACATGTCGCTAGCCAGTGCTCCAGGCACCCAGCTTTGTCTGTGGGTTAGTATTGGTGTATGTATGAGTATCTGTATGTATATAT
R
CACGGTATTTATAGAGAGAGACTATCCTGGAGAAGCCTCGTTTTGATGCCATTCTTCCTTGCAAGGTTAAGCAAGGTGGGTGGAAACTAAGACACCTGAA
Celera SNP ID:            hCV27472163
SNP Position Transcript:  2653
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10488):
ATAGAGAGAGACTATCCTGGAGAAGCCTCGTTTTGATGCCATTCTTCCTTGCAAGGTTAAGCAAGGTGGGTGGAAACTAAGACACCTGAACCCTCCAGGG
Y
CTCCCGCATCAAGGTCAGCATGAGGACAGACCACAGAGCTGTCACTTTTGCTCCGAAGCTACTTCTCCACTGTCCCGTTCAGTCTGAATGCTGCCACAAC
Celera SNP ID:            hCV27472164
SNP Position Transcript:  2764
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,68|C,1407)   total(C,1407|T,68) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10489):
ACGAAGGGATGCTTTCTGTTGTCAAACCATTGGACTATGAAATTTCTGCCTTCCACACCCTGCTGATCAAAGTGGAAAATGAAGACCCACTCGTACCCGA
Y
GTCTCCTACGGCCCCAGCTCCACAGCCACCGTCCACATCACTGTCCTGGATGTCAACGAGGGCCCAGTCTTCTACCCAGACCCCATGATGGTGACCAGGC
Celera SNP ID:            hCV25619631
SNP Position Transcript:  1487
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,2)   caucasian(C,38)   total(C,66|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 453, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:10490):
TCATGGTGACAGATTCAGGGAAACCACCCATGACGAATATCACAGATCTCAGGGTACAAGTGTGCTCCTGCAGGAATTCCAAAGTGGACTGCAACGCGGC
R
GGGGCCCTGCGCTTCAGCCTGCCCTCAGTCCTGCTCCTCAGCCTCTTCAGCTTAGCTTGTCTGTGAGAACTCCTGACGTCTGAAGCTTGACTCCCAAGTT
Celera SNP ID:            hCV3283758
SNP Position Transcript:  2204
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,30)   caucasian(A,11|G,29)   total(A,15|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 692, (A,GCA)   (A,GCG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,6|G,6)      total(G,6|A,6) ;no_pop(A,-|G,-)   ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 692, (A,GCA)   (A,GCG)      692, (A,GCG)   (A,GCA)      



Context             (SEQ ID NO:10491):
TCCATATCAATCAGCCAGCTGAATTCATTGAGGACCAGTCAATTCTAAACTTGACCTTCAGTGACTGTAAGGGAAACGACAAGCTACGCTATGAGGTCTC
V
AGCCCATACTTCAAGGTGAACAGCGATGGCGGCTTAGTTGCTCTGAGAAACATAACTGCAGTGGGCAAAACTCTGTTCGTCCATGCACGGACCCCCCATG
Celera SNP ID:            hCV12110723
SNP Position Transcript:  335
SNP Source:               Applera
Population(Allele,Count): african american(A,16|G,22)   caucasian(A,19|C,2|G,19)   total(A,35|C,2|G,41)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 69, (S,TCA)   (S,TCC)   (S,TCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 69, (S,TCA)   (S,TCG)      



Context             (SEQ ID NO:10492):
TGGAAGGGTCACCCACAGGCACCACAGTGATGCGGATGACAGCCTTTGATGCAGATGACCCAGCCACCGATAATGCCCTCCTGCGGTATAATATCCGTCA
R
CAGACGCCTGACAAGCCATCTCCCAACATGTTCTACATCGATCCTGAGAAAGGAGACATTGTCACTGTTGTGTCACCTGCGCTGCTGGACCGAGAGACTC
Celera SNP ID:            hCV25619643
SNP Position Transcript:  992
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 288, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:10493):
ATTAACAGGCACGGCCACAGCCACGATCATGATCGATGACAAAAATGATCACTCACCAAAATTCACCAAGAAAGAGTTTCAAGCCACAGTCGAGGAAGGA
R
CTGTGGGAGTTATTGTCAATTTGACAGTTGAAGATAAGGATGACCCCACCACAGGTGCATGGAGGGCTGCCTACACCATCATCAACGGAAACCCCGGGCA
Celera SNP ID:            hCV25619636
SNP Position Transcript:  1254
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1297, 376, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:10494):
CAGTCGAGGAAGGAGCTGTGGGAGTTATTGTCAATTTGACAGTTGAAGATAAGGATGACCCCACCACAGGTGCATGGAGGGCTGCCTACACCATCATCAA
Y
GGAAACCCCGGGCAGAGCTTTGAAATCCACACCAACCCTCAAACCAACGAAGGGATGCTTTCTGTTGTCAAACCATTGGACTATGAAATTTCTGCCTTCC
Celera SNP ID:            hCV25619637
SNP Position Transcript:  1340
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,35|T,1)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1297, 404, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:10495):
AACCCGAAAATAAAAGACGTTCATTATGTATGAAAAGTAACTGATTTGTATTCTGTGAGCATGTAAAAGCGGAAAGTTAGTGCTTGTTCTAAGATTACCT
Y
CTTGTTGATAAACCATAAATGAATCATCAAAGCTCACACCAAATTTTTCTATCAAATAAAACTAGTGACAGCTTGTGGCTTTTTATTAGAGCTCGCCACG
Celera SNP ID:            hCV7624352
SNP Position Transcript:  3452
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10496):
CTTTTTCTGGTGTGTTAACATGTCGCTAGCCAGTGCTCCAGGCACCCAGCTTTGTCTGTGGGTTAGTATTGGTGTATGTATGAGTATCTGTATGTATATA
Y
ACACGGTATTTATAGAGAGAGACTATCCTGGAGAAGCCTCGTTTTGATGCCATTCTTCCTTGCAAGGTTAAGCAAGGTGGGTGGAAACTAAGACACCTGA
Celera SNP ID:            hCV27510572
SNP Position Transcript:  2652
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10497):
GCATAAAATAGAGTAAATACAGGTAGTTTTAAAAGTACCCTTTTGTGTGAATTGACTACCGTTGTTTGCAAACCCGAAAATAAAAGACGTTCATTATGTA
Y
GAAAAGTAACTGATTTGTATTCTGTGAGCATGTAAAAGCGGAAAGTTAGTGCTTGTTCTAAGATTACCTTCTTGTTGATAAACCATAAATGAATCATCAA
Celera SNP ID:            hCV7624353
SNP Position Transcript:  3382
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10498):
ACAGTCGTACTGATTCTAATGGGGACACAGATCATGGTAGAGAATCTCTCCCTCCTCAGTAAATGTACAACTGCACCTGTCATCATGGAGGTCATACATG
S
ATACAAAGAGGTGTACAGGTACCATCTTGTATACACATATATACCCACATGTACAGACATACATTTATGCACATTCACGCTGTTTGTTTCATATATACAG
Celera SNP ID:            hCV7624354
SNP Position Transcript:  3181
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Context             (SEQ ID NO:10499):
GATCTTCACCCGAATACAGATCCTTTCAAATTTGAAATCCACAAACAAGCTGTTCCTGATAAAGTCTGGAAGATCTCCAAGATCAACAATACACACGCCC
K
GGTAAGCCTTCTTCAAAATCTGAACAAAGCAAACTACAACCTGCCCATCATGGTGACAGATTCAGGGAAACCACCCATGACGAATATCACAGATCTCAGG
Celera SNP ID:            hCV25619593
SNP Position Transcript:  2056
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,35)   caucasian(T,40)   total(G,1|T,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1297, 643, (R,CGG)   (L,CTG)   



Context             (SEQ ID NO:10500):
TTTGTATGTGTCCCGAATCCACAGTCGTACTGATTCTAATGGGGACACAGATCATGGTAGAGAATCTCTCCCTCCTCAGTAAATGTACAACTGCACCTGT
Y
ATCATGGAGGTCATACATGCATACAAAGAGGTGTACAGGTACCATCTTGTATACACATATATACCCACATGTACAGACATACATTTATGCACATTCACGC
Celera SNP ID:            hCV7624359
SNP Position Transcript:  3161
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1297, None   



Gene Number:                 235
Celera Gene:                 hCG38636 - 62000133307808
Celera Transcript:           hCT1962011 - 62000133307824
Public Transcript Accession: NM_006594
Celera Protein:              hCP1777263 - 197000069425586
Public Protein Accession:    NP_006585
Gene Symbol:                 AP4B1
Protein Name:                adaptor-related protein complex 4, beta 1 subunit;BETA-4
Celera Genomic Axis:         GA_x5YUV32VTKB(5384511..5395161)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:601):
GATTGGGCCTATCCGCGATGAGAACGGCGTGGAGGGGGAATTAAGGCTGGAACTGGAGAGGGAGGGGTCTGCGGCTCCCACATCAGGACGAGAAGGAGCC
CTCGAGTTACCGTGGGAGCTGTGGGAGCTGCCCTGTGACTCTTAGGAAGATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTG
TGCAATCCTCACATTCAAGCTGATAGGCTGCGCTACCGGAATGTCATCCAGCGAGTGATTAGGTACATGACTCAAGGCTTGGACATGTCTGGTGTTTTTA
TGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCRGATCTGGCTCT
CCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTG
CAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCMTATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTC
ATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGA
GGAAATTCTGAAACAGGAAGGAGGYGTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAA
GTATTGAACTTTCTGCTACGCTACCAACCCCGCAGTGAGGAAGAACTATTTGACATTCTCAATCTGTTGGATAGTTTCCTCAAGAGCAGTAGCCCAGGTG
TGGTGATGGGAGCTACCAAACTTTTTCTGATCTTGGCAAAAATGTTTCCCCACGTACAAACTGATGTCCTTGTGCGGGTCAAGGGACCTTTGCTAGCTGC
CTGTTCTTCAGAGAGCCGTGAGCTCTGTTTTGTTGCTCTTTGTCATGTACGCCAGATCTTGCATAGTTTACCAGGTCACTTTAGCAGCCACTACAAAAAG
TTTTTTTGCTCCTACTCGGAGCCCCACTACATCAAACTACAGAAAGTGGAGGTGCTGTGTGAACTGGTGAACGATGAGAATGTGCAGCAGGTGCTAGAGG
AGCTTCGAGGGTACTGCACGGATGTGTCTGCGGACTTTGCACAGGCTGCCATCTTTGCCATAGGTGGCATTGCCAGGACTTACACAGATCAATGTGTTCA
GATTTTAACAGAGTTGCTGGGTCTTCGACAAGAGCACATTACCACAGTGGTGGTGCAGACTTTCCGAGACCTGGTTTGGTTGTGTCCTCAGTGTACTGAA
GCTGTATGTCAGGCCCTGCCCGGCTGTGAAGAGAACATTCAAGATAGTGAGGGGAAGCAAGCACTTATTTGGCTACTTGGTGTCCATGGGGAAAGAATTC
CTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTTYGCTGCGCCTTTT
CCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGACCGAGGTCTCTTC
TATTATCGCCTCCTCTTAGTTGGCATTGATGAAGTTAAGCGGATTCTGTGTAGCCCTAAATCTGACCCTACTCTTGGACTTTTGGAGGATCCGGCAGAAA
GACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTATYTCTAAATGCCAGGGGGCAGAGCGTTG
TGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGGTACAAGAACTCCCTGATTCTGGAGCC
CTCATGCTAGTCCCCAATCGCCAGCTTACTGCTGATTATTTTGAGAAAACTTGGCTTAGCCTTAAAGTTGCTCATCAGCAAGTGTTGCCTTGGCGGGGAG
AATTCCATCCTGACACCCTCCAGATGGCTCTTCAAGTAGTGAACATCCAGACCATCGCAATGAGTAGGGCTGGGTCTCGGCCATGGAAAGCATACCTCAG
TGCTCAGGATGATACTGGCTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACG
GAGACGCTGAATAGTTTTWTTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGTAAGATG
AATAACTATTACACTTTCTTAGTCTTTCCTATTAGAGCTGCCAGTAAGTCCAGATAATATCAGATACAAAGGAGAGTGGAAAATCTAGAAATCAGGATTC
TTAAGTTTTTGGCCAAAGAACATTGATTCATTCCTTTCATTCCTATTGGCAATTGACCCCATTTTTCAGTGATGATGTTGTAGAGGTTAATGTTGGTAAG
GAGATGCGTTGAGGATGGGATTTGGATTATTTCCTAATCAATTTTAGGAATTGTGTTAGTAATTAAAGATGGCTGATGTGTGGAAACTGATAGGGGTCAT
CATTTGTGGGGGTCATCTTTTCTTCCCTGGATTATTATAGTAAATTCCTAACTGTTCTCATATTTCCAATCATGCTTTTAGGCCAGATTCCAAAGTCCTT
AATGTCATCTAAAGTACCTCTTTGGTGTCAAGTCTTGCCACTCCCAAAATGACTTCTTTTCTGGCAGAAGCAAACCATTTGCATTGCAGTTCCCTTTATA
CACCTGCTTCTTTCACCTCTGTGTTAACTTAAACCTGCTTTTATTTATTGCCTGGAACATTTTCTCACCCT

Protein Sequence    (SEQ ID NO:1298):
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPM
VRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIA
HHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTV
VVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLY
YCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLE
PGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS


SNP Information

Context             (SEQ ID NO:10501):
CTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACC
R
GATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGA
Celera SNP ID:            hCV25619040
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1298, 80, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10502):
CTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAGTTTT
W
TTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGTAAGATGAATAACTATTACACTTTCT
Celera SNP ID:            hCV8701513
SNP Position Transcript:  2319
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1298, 724, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:10503):
CCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGG
Y
GTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCTGCTACGCTACC
Celera SNP ID:            hCV25761933
SNP Position Transcript:  725
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,34|T,6)   total(C,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1298, 192, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10504):
TTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTAT
Y
TCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGG
Celera SNP ID:            hCV25619046
SNP Position Transcript:  1874
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1298, 575, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:10505):
TGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTC
M
TATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGC
Celera SNP ID:            hCV25761273
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,32|C,2)   total(A,69|C,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1298, 134, (S,TCA)   (S,TCC)   



Context             (SEQ ID NO:10506):
GGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTT
Y
GCTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGAC
Celera SNP ID:            hCV8701512
SNP Position Transcript:  1588
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,11|T,27)   total(C,35|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1298, 480, (S,TCG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,7)      total(C,3|T,7) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1298, 480, (S,TCG)   (L,TTG)      



Gene Number:                 235
Celera Gene:                 hCG38636 - 62000133307808
Celera Transcript:           hCT29879 - 62000133307809
Public Transcript Accession: NM_006594
Celera Protein:              hCP48471 - 197000069425585
Public Protein Accession:    NP_006585
Gene Symbol:                 AP4B1
Protein Name:                adaptor-related protein complex 4, beta 1 subunit;BETA-4
Celera Genomic Axis:         GA_x5YUV32VTKB(5384511..5395157)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:602):
GGGCCTATCCGCGATGAGAACGGCGTGGAGGGGGAATTAAGGCTGGAACTGGAGAGGGAGGGGTCTGCGGTCAGTCGGACGCGGCGCTGGAAATCCGGCG
GAGGACCTAGAAGTAGCGGGAGCGATCTGTGGGCGGGGCGAACGGCCTGCCGGCCGAYGGCTCCCACATCAGGACGAGAAGGAGCCCTCGAGTTACCGTG
GGAGCTGTGGGAGCTGCCCTGTGACTCTTAGGAAGATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTGTGCAATCCTCACAT
TCAAGCTGATAGGCTGCGCTACCGGAATGTCATCCAGCGAGTGATTAGGTACATGACTCAAGGCTTGGACATGTCTGGTGTTTTTATGGAAATGGTGAAG
GCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCRGATCTGGCTCTCCTGGCCATCAATA
CGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACA
ACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCMTATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAA
GTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAAC
AGGAAGGAGGYGTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCT
GCTACGCTACCAACCCCGCAGTGAGGAAGAACTATTTGACATTCTCAATCTGTTGGATAGTTTCCTCAAGAGCAGTAGCCCAGGTGTGGTGATGGGAGCT
ACCAAACTTTTTCTGATCTTGGCAAAAATGTTTCCCCACGTACAAACTGATGTCCTTGTGCGGGTCAAGGGACCTTTGCTAGCTGCCTGTTCTTCAGAGA
GCCGTGAGCTCTGTTTTGTTGCTCTTTGTCATGTACGCCAGATCTTGCATAGTTTACCAGGTCACTTTAGCAGCCACTACAAAAAGTTTTTTTGCTCCTA
CTCGGAGCCCCACTACATCAAACTACAGAAAGTGGAGGTGCTGTGTGAACTGGTGAACGATGAGAATGTGCAGCAGGTGCTAGAGGAGCTTCGAGGGTAC
TGCACGGATGTGTCTGCGGACTTTGCACAGGCTGCCATCTTTGCCATAGGTGGCATTGCCAGGACTTACACAGATCAATGTGTTCAGATTTTAACAGAGT
TGCTGGGTCTTCGACAAGAGCACATTACCACAGTGGTGGTGCAGACTTTCCGAGACCTGGTTTGGTTGTGTCCTCAGTGTACTGAAGCTGTATGTCAGGC
CCTGCCCGGCTGTGAAGAGAACATTCAAGATAGTGAGGGGAAGCAAGCACTTATTTGGCTACTTGGTGTCCATGGGGAAAGAATTCCTAATGCTCCTTAT
GTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTTYGCTGCGCCTTTTCCTCTCCCGACCTG
CTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGACCGAGGTCTCTTCTATTATCGCCTCCT
CTTAGTTGGCATTGATGAAGTTAAGCGGATTCTGTGTAGCCCTAAATCTGACCCTACTCTTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGC
TGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTATYTCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTC
CTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGGTACAAGAACTCCCTGATTCTGGAGCCCTCATGCTAGTCCC
CAATCGCCAGCTTACTGCTGATTATTTTGAGAAAACTTGGCTTAGCCTTAAAGTTGCTCATCAGCAAGTGTTGCCTTGGCGGGGAGAATTCCATCCTGAC
ACCCTCCAGATGGCTCTTCAAGTAGTGAACATCCAGACCATCGCAATGAGTAGGGCTGGGTCTCGGCCATGGAAAGCATACCTCAGTGCTCAGGATGATA
CTGGCTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAG
TTTTWTTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGTAAGATGAATAACTATTACAC
TTTCTTAGTCTTTCCTATTAGAGCTGCCAGTAAGTCCAGATAATATCAGATACAAAGGAGAGTGGAAAATCTAGAAATCAGGATTCTTAAGTTTTTGGCC
AAAGAACATTGATTCATTCCTTTCATTCCTATTGGCAATTGACCCCATTTTTCAGTGATGATGTTGTAGAGGTTAATGTTGGTAAGGAGATGCGTTGAGG
ATGGGATTTGGATTATTTCCTAATCAATTTTAGGAATTGTGTTAGTAATTAAAGATGGCTGATGTGTGGAAACTGATAGGGGTCATCATTTGTGGGGGTC
ATCTTTTCTTCCCTGGATTATTATAGTAAATTCCTAACTGTTCTCATATTTCCAATCATGCTTTTAGGCCAGATTCCAAAGTCCTTAATGTCATCTAAAG
TACCTCTTTGGTGTCAAGTCTTGCCACTCCCAAAATGACTTCTTTTCTGGCAGAAGCAAACCATTTGCATTGCAGTTCCCTTTATACACCTGCTTCTTTC
ACCTCTGTGTTAACTTAAACCTGCTTTTATTTATTGCCTGGAACATTTTCTCACCCT

Protein Sequence    (SEQ ID NO:1299):
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPM
VRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIA
HHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTV
VVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLY
YCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLE
PGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS


SNP Information

Context             (SEQ ID NO:10507):
CTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACC
R
GATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGA
Celera SNP ID:            hCV25619040
SNP Position Transcript:  475
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1299, 80, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10508):
CTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAGTTTT
W
TTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGTAAGATGAATAACTATTACACTTTCT
Celera SNP ID:            hCV8701513
SNP Position Transcript:  2405
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1299, 724, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:10509):
CCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGG
Y
GTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCTGCTACGCTACC
Celera SNP ID:            hCV25761933
SNP Position Transcript:  811
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,34|T,6)   total(C,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1299, 192, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10510):
GAGGGGTCTGCGGTCAGTCGGACGCGGCGCTGGAAATCCGGCGGAGGACCTAGAAGTAGCGGGAGCGATCTGTGGGCGGGGCGAACGGCCTGCCGGCCGA
Y
GGCTCCCACATCAGGACGAGAAGGAGCCCTCGAGTTACCGTGGGAGCTGTGGGAGCTGCCCTGTGACTCTTAGGAAGATGCCGTACCTTGGCTCCGAGGA
Celera SNP ID:            hCV1900108
SNP Position Transcript:  158
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,5)      total(C,5|T,1) ;SC_12_T(T,5|C,18)   SC_12_C(T,6|C,18)   SC_12_TT(C,9|T,15)   SC_95_C(T,60|C,129)   total(C,174|T,86)   no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1299, None   



Context             (SEQ ID NO:10511):
TTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTAT
Y
TCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGG
Celera SNP ID:            hCV25619046
SNP Position Transcript:  1960
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1299, 575, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:10512):
TGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTC
M
TATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGC
Celera SNP ID:            hCV25761273
SNP Position Transcript:  637
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,32|C,2)   total(A,69|C,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1299, 134, (S,TCA)   (S,TCC)   



Context             (SEQ ID NO:10513):
GGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTT
Y
GCTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGAC
Celera SNP ID:            hCV8701512
SNP Position Transcript:  1674
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,11|T,27)   total(C,35|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1299, 480, (S,TCG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,7)      total(C,3|T,7) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1299, 480, (S,TCG)   (L,TTG)      



Gene Number:                 235
Celera Gene:                 hCG38636 - 62000133307808
Celera Transcript:           hCT1962012 - 62000133307857
Public Transcript Accession: NM_006594
Celera Protein:              hCP1777261 - 197000069425589
Public Protein Accession:    NP_006585
Gene Symbol:                 AP4B1
Protein Name:                adaptor-related protein complex 4, beta 1 subunit;BETA-4
Celera Genomic Axis:         GA_x5YUV32VTKB(5371063..5395161)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:603):
GATTGGGCCTATCCGCGATGAGAACGGCGTGGAGGGGGAATTAAGGCTGGAACTGGAGAGGGAGGGGTCTGCGGCTCCCACATCAGGACGAGAAGGAGCC
CTCGAGTTACCGTGGGAGCTGTGGGAGCTGCCCTGTGACTCTTAGGAAGATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTG
TGCAATCCTCACATTCAAGCTGATAGGCTGCGCTACCGGAATGTCATCCAGCGAGTGATTAGGTACATGACTCAAGGCTTGGACATGTCTGGTGTTTTTA
TGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCRGATCTGGCTCT
CCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTG
CAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCMTATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTC
ATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGA
GGAAATTCTGAAACAGGAAGGAGGYGTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAA
GTATTGAACTTTCTGCTACGCTACCAACCCCGCAGTGAGGAAGAACTATTTGACATTCTCAATCTGTTGGATAGTTTCCTCAAGAGCAGTAGCCCAGGTG
TGGTGATGGGAGCTACCAAACTTTTTCTGATCTTGGCAAAAATGTTTCCCCACGTACAAACTGATGTCCTTGTGCGGGTCAAGGGACCTTTGCTAGCTGC
CTGTTCTTCAGAGAGCCGTGAGCTCTGTTTTGTTGCTCTTTGTCATGTACGCCAGATCTTGCATAGTTTACCAGGTCACTTTAGCAGCCACTACAAAAAG
TTTTTTTGCTCCTACTCGGAGCCCCACTACATCAAACTACAGAAAGTGGAGGTGCTGTGTGAACTGGTGAACGATGAGAATGTGCAGCAGGTGCTAGAGG
AGCTTCGAGGGTACTGCACGGATGTGTCTGCGGACTTTGCACAGGCTGCCATCTTTGCCATAGGTGGCATTGCCAGGACTTACACAGATCAATGTGTTCA
GATTTTAACAGAGTTGCTGGGTCTTCGACAAGAGCACATTACCACAGTGGTGGTGCAGACTTTCCGAGACCTGGTTTGGTTGTGTCCTCAGTGTACTGAA
GCTGTATGTCAGGCCCTGCCCGGCTGTGAAGAGAACATTCAAGATAGTGAGGGGAAGCAAGCACTTATTTGGCTACTTGGTGTCCATGGGGAAAGAATTC
CTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTTYGCTGCGCCTTTT
CCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGACCGAGGTCTCTTC
TATTATCGCCTCCTCTTAGTTGGCATTGATGAAGTTAAGCGGATTCTGTGTAGCCCTAAATCTGACCCTACTCTTGGACTTTTGGAGGATCCGGCAGAAA
GACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTATYTCTAAATGCCAGGGGGCAGAGCGTTG
TGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGGTACAAGAACTCCCTGATTCTGGAGCC
CTCATGCTAGTCCCCAATCGCCAGCTTACTGCTGATTATTTTGAGAAAACTTGGCTTAGCCTTAAAGTTGCTCATCAGCAAGTGTTGCCTTGGCGGGGAG
AATTCCATCCTGACACCCTCCAGATGGCTCTTCAAGTAGTGAACATCCAGACCATCGCAATGAGTAGGGCTGGGTCTCGGCCATGGAAAGCATACCTCAG
TGCTCAGGATGATACTGGCTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACG
GAGACGCTGAATAGTTTTWTTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGAGAGCCT
TGTTCTTTTGATGTGGCTATCATTGCTGGTCGCCTTCGGATGTTGGGTGACCAGTTCAACGGAGAATTGGAAGCTTCTGCCAAAAACGTCATTGCAGAAA
CCATTAAGGGACAGACAGGGTCTTACTGTGTCACCCAGGCTCAAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCGATC
CTCCCACTGCAGCCTCCTGAGTAGCTGGGACTTCAGGCAAGAGCTATACTCCAGRACACTGTGGAATCTCTCAGCAAGACCTGGTGTGCTCAGGATTCCA
GCTTAGCTTATGAGAGAGCTTTTCTGGCAGTGTCAGTGAAACTTCTTGAGTACATGGCTCACATTGCTCCTGAAGTAGTGGGACAGGTGGCTATCCCCAT
GACGGGTATGATCAATGGGAACCAAGCCATCCGGGAGTTCATCCAGGGCCAGGGAGGTTGGGAAAATCTGGAGAGCTGAAGAGTTGGAGCTATTCACGAG
ACTGAACATCACTTCCTTGTTGACTGATTGGGTGATTGATTCCTGGGAATTCAAACAAACAAATAAAAAARCACTTTTTTCATTTTATC

Protein Sequence    (SEQ ID NO:1300):
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPM
VRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIA
HHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTV
VVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLY
YCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLE
PGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS


SNP Information

Context             (SEQ ID NO:10514):
CTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACC
R
GATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGA
Celera SNP ID:            hCV25619040
SNP Position Transcript:  389
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1300, 80, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10515):
CTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAGTTTT
W
TTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGAGAGCCTTGTTCTTTTGATGTGGCTA
Celera SNP ID:            hCV8701513
SNP Position Transcript:  2319
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1300, 724, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:10516):
CCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGG
Y
GTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCTGCTACGCTACC
Celera SNP ID:            hCV25761933
SNP Position Transcript:  725
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,34|T,6)   total(C,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1300, 192, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10517):
GTGATCTCAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCGATCCTCCCACTGCAGCCTCCTGAGTAGCTGGGACTTCAGGCAAGAGCTATACTCCAG
R
ACACTGTGGAATCTCTCAGCAAGACCTGGTGTGCTCAGGATTCCAGCTTAGCTTATGAGAGAGCTTTTCTGGCAGTGTCAGTGAAACTTCTTGAGTACAT
Celera SNP ID:            hCV8701525
SNP Position Transcript:  2655
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1300, None   



Context             (SEQ ID NO:10518):
TTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTAT
Y
TCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGG
Celera SNP ID:            hCV25619046
SNP Position Transcript:  1874
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1300, 575, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:10519):
TGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTC
M
TATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGC
Celera SNP ID:            hCV25761273
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,32|C,2)   total(A,69|C,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1300, 134, (S,TCA)   (S,TCC)   



Context             (SEQ ID NO:10520):
GGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTT
Y
GCTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGAC
Celera SNP ID:            hCV8701512
SNP Position Transcript:  1588
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,11|T,27)   total(C,35|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1300, 480, (S,TCG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,7)      total(C,3|T,7) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1300, 480, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10521):
GAGAGCTGAAGAGTTGGAGCTATTCACGAGACTGAACATCACTTCCTTGTTGACTGATTGGGTGATTGATTCCTGGGAATTCAAACAAACAAATAAAAAA
R
CACTTTTTTCATTTTATC
Celera SNP ID:            hCV1900125
SNP Position Transcript:  2971
SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,5)   total(G,5|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1300, None   



Gene Number:                 235
Celera Gene:                 hCG38636 - 62000133307808
Celera Transcript:           hCT1966942 - 62000133307839
Public Transcript Accession: NM_006594
Celera Protein:              hCP1780475 - 197000069425587
Public Protein Accession:    NP_006585
Gene Symbol:                 AP4B1
Protein Name:                adaptor-related protein complex 4, beta 1 subunit;BETA-4
Celera Genomic Axis:         GA_x5YUV32VTKB(5371063..5394954)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:604):
GGCGTGGAAGTGTGTCAGGGCCAGCGTGCCGGCCCTACGGAAGCCGAGCCTGAGGCGAGATCTCGCCTTTTGTATTTTCACTGACTCATATTTCCTTTAC
TCAGGCTCCCACATCAGGACGAGAAGGAGCCCTCGAGTTACCGTGGGAGCTGTGGGAGCTGCCCTGTGACTCTTAGGAAGATGCCGTACCTTGGCTCCGA
GGACGTGGTGAAGGAGCTGAAGAAGGCTCTGTGCAATCCTCACATTCAAGCTGATAGGCTGCGCTACCGGAATGTCATCCAGCGAGTGATTAGGTACATG
ACTCAAGGCTTGGACATGTCTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCA
CATATGCTCCCCTGAAACCRGATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACG
GAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCMTATGTCAGGAGAGTGGCA
GTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAA
TTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGGYGTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAAT
GTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCTGCTACGCTACCAACCCCGCAGTGAGGAAGAACTATTTGACATTCTCAATCTGTTG
GATAGTTTCCTCAAGAGCAGTAGCCCAGGTGTGGTGATGGGAGCTACCAAACTTTTTCTGATCTTGGCAAAAATGTTTCCCCACGTACAAACTGATGTCC
TTGTGCGGGTCAAGGGACCTTTGCTAGCTGCCTGTTCTTCAGAGAGCCGTGAGCTCTGTTTTGTTGCTCTTTGTCATGTACGCCAGATCTTGCATAGTTT
ACCAGGTCACTTTAGCAGCCACTACAAAAAGTTTTTTTGCTCCTACTCGGAGCCCCACTACATCAAACTACAGAAAGTGGAGGTGCTGTGTGAACTGGTG
AACGATGAGAATGTGCAGCAGGTGCTAGAGGAGCTTCGAGGGTACTGCACGGATGTGTCTGCGGACTTTGCACAGGCTGCCATCTTTGCCATAGGTGGCA
TTGCCAGGACTTACACAGATCAATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAAGAGCACATTACCACAGTGGTGGTGCAGACTTTCCGAGA
CCTGGTTTGGTTGTGTCCTCAGTGTACTGAAGCTGTATGTCAGGCCCTGCCCGGCTGTGAAGAGAACATTCAAGATAGTGAGGGGAAGCAAGCACTTATT
TGGCTACTTGGTGTCCATGGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGA
TGGAGCTGCTCACTGCTTYGCTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAA
AGATATGGCTGTACGGGACCGAGGTCTCTTCTATTATCGCCTCCTCTTAGTTGGCATTGATGAAGTTAAGCGGATTCTGTGTAGCCCTAAATCTGACCCT
ACTCTTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAA
CTATYTCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGA
GAGGGTACAAGAACTCCCTGATTCTGGAGCCCTCATGCTAGTCCCCAATCGCCAGCTTACTGCTGATTATTTTGAGAAAACTTGGCTTAGCCTTAAAGTT
GCTCATCAGCAAGTGTTGCCTTGGCGGGGAGAATTCCATCCTGACACCCTCCAGATGGCTCTTCAAGTAGTGAACATCCAGACCATCGCAATGAGTAGGG
CTGGGTCTCGGCCATGGAAAGCATACCTCAGTGCTCAGGATGATACTGGCTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCA
GATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAGTTTTWTTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAA
CAGAGTCTTGTTGCTTGTCTAGAGAGAGCCTTGTTCTTTTGATGTGGCTATCATTGCTGGTCGCCTTCGGATGTTGGGTGACCAGTTCAACGGAGAATTG
GAAGCTTCTGCCAAAAACGTCATTGCAGAAACCATTAAGGGACAGACAGGGTCTTACTGTGTCACCCAGGCTCAAGTGCAGTGGTGTGATCTCAGCTCAC
TGCAGCCTCCACCTCCTGGGCTCAAGCGATCCTCCCACTGCAGCCTCCTGAGTAGCTGGGACTTCAGGCAAGAGCTATACTCCAGRACACTGTGGAATCT
CTCAGCAAGACCTGGTGTGCTCAGGATTCCAGCTTAGCTTATGAGAGAGCTTTTCTGGCAGTGTCAGTGAAACTTCTTGAGTACATGGCTCACATTGCTC
CTGAAGTAGTGGGACAGGTGGCTATCCCCATGACGGGTATGATCAATGGGAACCAAGCCATCCGGGAGTTCATCCAGGGCCAGGGAGGTTGGGAAAATCT
GGAGAGCTGAAGAGTTGGAGCTATTCACGAGACTGAACATCACTTCCTTGTTGACTGATTGGGTGATTGATTCCTGGGAATTCAAACAAACAAATAAAAA
ARCACTTTTTTCATTTTATC

Protein Sequence    (SEQ ID NO:1301):
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPM
VRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIA
HHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTV
VVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLY
YCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLE
PGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS


SNP Information

Context             (SEQ ID NO:10522):
CTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACC
R
GATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGA
Celera SNP ID:            hCV25619040
SNP Position Transcript:  420
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1301, 80, (P,CCA)   (P,CCG)   



Context             (SEQ ID NO:10523):
CTGTCTGTTCTTAACAGAACTGCTATTGGAGCCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTGAATAGTTTT
W
TTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAACAGAGTCTTGTTGCTTGTCTAGAGAGAGCCTTGTTCTTTTGATGTGGCTA
Celera SNP ID:            hCV8701513
SNP Position Transcript:  2350
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1301, 724, (I,ATT)   (F,TTT)      



Context             (SEQ ID NO:10524):
CCCTGGTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTGAGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGG
Y
GTTGTCATCAATAAGCCCATTGCTCACCATCTCTTAAATCGAATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAACTTTCTGCTACGCTACC
Celera SNP ID:            hCV25761933
SNP Position Transcript:  756
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,34|T,6)   total(C,65|T,11)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1301, 192, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:10525):
GTGATCTCAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCGATCCTCCCACTGCAGCCTCCTGAGTAGCTGGGACTTCAGGCAAGAGCTATACTCCAG
R
ACACTGTGGAATCTCTCAGCAAGACCTGGTGTGCTCAGGATTCCAGCTTAGCTTATGAGAGAGCTTTTCTGGCAGTGTCAGTGAAACTTCTTGAGTACAT
Celera SNP ID:            hCV8701525
SNP Position Transcript:  2686
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1301, None   



Context             (SEQ ID NO:10526):
TTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTCAACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTAT
Y
TCTAAATGCCAGGGGGCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAGGACCCTTGATTCCTGAAGAGAACAAGGAGAGGG
Celera SNP ID:            hCV25619046
SNP Position Transcript:  1905
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1301, 575, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:10527):
TGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTC
M
TATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAGATGGTGCCCTGGTAAATGAATTATACAGTTTGC
Celera SNP ID:            hCV25761273
SNP Position Transcript:  582
SNP Source:               Applera
Population(Allele,Count): african american(A,37|C,1)   caucasian(A,32|C,2)   total(A,69|C,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1301, 134, (S,TCA)   (S,TCC)   



Context             (SEQ ID NO:10528):
GGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTTGTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTT
Y
GCTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTATTACTGCATAGAGGAAGAAAAAGATATGGCTGTACGGGAC
Celera SNP ID:            hCV8701512
SNP Position Transcript:  1619
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,11|T,27)   total(C,35|T,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1301, 480, (S,TCG)   (L,TTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,7)      total(C,3|T,7) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1301, 480, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10529):
GAGAGCTGAAGAGTTGGAGCTATTCACGAGACTGAACATCACTTCCTTGTTGACTGATTGGGTGATTGATTCCTGGGAATTCAAACAAACAAATAAAAAA
R
CACTTTTTTCATTTTATC
Celera SNP ID:            hCV1900125
SNP Position Transcript:  3002
SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,5)   total(G,5|A,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1301, None   



Gene Number:                 236
Celera Gene:                 hCG38638 - 62000133305249
Celera Transcript:           hCT29881 - 62000133305250
Public Transcript Accession: NM_022836
Celera Protein:              hCP48474 - 197000069425615
Public Protein Accession:    NP_073747
Gene Symbol:                 DCLRE1B
Protein Name:                DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae);FLJ12810;FLJ13998;SNM1B
Celera Genomic Axis:         GA_x5YUV32VTKB(5395271..5404137)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:605):
CCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCKGCTACTTTGGCCTGTCTCCTCC
CTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTGGGCTCCAGCGGGCAGGGTGACT
TCCTTTTTCTGCCCACTCTGGTAACTTATTGCTCTGCTGGGCTCTTTCCCTTAGGGTCTCTGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGC
CGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCRACCCTACCACCATGAATGGGGTYCTGATCCCCCATACGC
CCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCAC
CTGGGCCCKGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTYACCTACAGGTATCTAAGCAATGGATCCAAGCCCTGGAGGTTGGTGAG
AGCCAYGTATTACCCCTAGATGAAATTGGACAAGAGACCATGACCGTAACCCTCCTCGATGCCAATCACTGTCCTGGTTCTGTCATGTTTCTCTTTGAAG
GATATTTTGGAACCATCCTCTACACAGGTGATTTTCGATACACACCATCCATGCTAAAGGAGCCAGCCCTGACACTGGGGAAACAGATCCATACTTTATA
CCTAGACAACACCAATTGCAATCCAGCCCTGGTTCTTCCTTCCCGACAAGAAGCTGCCCACCAGATTGTCCAGCTCATTCGAAAACACCCACAACATAAC
ATAAAGATTGGACTCTACAGCCTGGGAAAGGAATCACTGCTGGAGCAGCTGGCCCTGGAGTTTCAGACCTGGGTGGTATTGAGTCCTCGGCGCCTGGAGT
TGGTACAGCTACTGGGCCTGGCAGATGTGTTCACAGTGGAGGAGAAGGCTGGCCGCATCCATGCAGTAGACCATATGGAGATCTGCCATTCCAACATGCT
GCGTTGGAACCAGACCCACCCTACGATTGCTATCCTTCCCACAAGCCGAAAAATCCACAGCTCCCACCCTGATATCCACGTCATCCCTTACTCTGACCAT
TCCTCTTACTCCGAGCTTCGTGCCTTTGTCGCAGCACTGAAGCCTTGCCAGGTGGTGCCCATTGTAAGTCGGCGGCCCTGTGGAGGCTTTCAGGACAGTC
TGAGCCCCAGGATCTCCGTGCCCCTGATTCCGGACTCTGTACAGCAATACATGAGTTCTTCCTCTAGAAAACCAAGCCTTCTCTGGCTGTTAGAAAGGAG
GCTAAAGAGGCCGAGAACCCAAGGTGTTGTGTTTGAATCCCCTGAGGAAAGTGCTGATCAATCTCAAGCTGACAGAGACTCAAAGAAGGCCAAGAAAGAG
AAACTTTCTCCCTGGCCTGCGGACCTTGAAAAGCAGCCTTCCCACCATCCTTTGCGGATCAAGAAGCAGTTGTTCCCAGATCTCTATAGCAAAGAATGGA
ACAAGGCAGTGCCTTTCTGTGAGTCTCAAAAGAGGGTGACTATGTTGACGGCCCCACTGGGATTTTCAGTGCACTTAAGGTCTACAGATGAGGAGTTTAT
TTCTCAAAAAACCAGGGAGGAAATTGGTTTAGGGTCCCCCTTGGTACCCATGGGARATGATGATGGAGGTCCAGAAGCCACAGGGAATCAGAGTGCCTGG
ATGGGCCATGGTTCTCCCCTGTCCCACAGCAGCAAGGGCACCCCTCTTCTAGCTACTGAATTCAGGGGTCTAGCACTCAAATATCTTCTGACTCCAGTGW
ACTTTTTCCAGGCAGGGTATTCTTCCAGGAGATTTGACCAGCAAGTGGAAAAATACCATAAACCCTGCTGAAGACAGGAGAGTACAGAATGACAACATTG
AGCCCACACTGCAGTTTTGAAGATAGTAACTGATGGCTGGTGGGAAAGAGTTTGTTTTTGGGGCCTACTTTTCTATCTTTACAAGACTCTTATGGGCCCA
CCGTGGAGCAGCACTTCCCAAAACTTGTTCACTGGGGTCCTCGTGCCTATGGAATCCTTCTTTTTATAACTAAGTTTAAGAAATACTTTTTTTATAAAAT
CTTTGGAGTATGCGTGAGCAAATTAAAAGTTCTTTGAAGTCCTACAGTAACTTAATCTGTTTAACCTTGTTTAACCCAGTATTTCTCAAACTTTTGTGAA
CATGCAATCATCTTATGTGGGTACAGAAAGAGGTAAAGAGTCTGAATCAAAAAGGACCAGGTTATTGCTGTTGCTGTTTTGTGGTGTCATGAGCCATTCT
CCATGTCCCCTTCTCCCTCTTCTCAGATCAAAATCCCTAGGGAGTTCTATTTTTAAAATTATGAACTATGGCGCTGCATGCTTCAATCCTGAACGTCACT
GACTTGCTGTGACCATCCAAATAATTTTCCTGTCTCTGCCTCTGGGAGGGAACAGGAAGCGATGAAGAGGTCTTGGAACAGTAGTGAAAATTCTACCTCT
ATGTCCTTCATGAGGATGTGCAGTATCCCAGTATCACTGGGATCCATGTGGAACAGAGCCAGCTGGGGGGTTGGGCAGCTCTCTCCAAGGCAGTACCTAG
AGCCCAGCTGAACAACAAGGCTTTGGGTGTGAAGGGACTCCCCAGCCTGGAGACCCTATTTGGCTGAAACAGTTACAAAATATCAAATGTGTTGTCAGAT
ATTCCTCCAATTGTTCACATAGCTGGGATATTTGTTGCTCCCCTCACCCCTTGGATTATGTAGGGAGCCAGTGCACACAGCCTGTTTGTTTTAGTATCCA
AGGAAGAGACCAAGGAGCCAGCTGGCGGGAAGGGGTGGGGGTGTGCAGTCTGCCCTGTCCTTCTGCTCATAACCTGACAAAATGCCAAACTAGTAAGCAG
GATAGCTGATACCACGGCTATGAGGGAGTAGGCTCTGAGAGGGCACAGACTTGTGGAGCTGGGCRTCTGGATCAAAACTGCTTTGGGATGGAACCTCGAG
CCCTAGCAGTGAAGAAGATTCCATTTCTTGTCCAGGGGATTTAAAAGAGTTTTCTGCTTTGAGAGAGAAATAGAGAGTTTAGAAAGCAATTGCTCTTGGG
AAAGCTATACACAGCTCTGTTTTGTCAATGACCTTTGTTGTAAGTCTCCCAACGTCCTATTAGGAGCCACAGCAGGTGAGGCATTTGGTGCAGCAGGAAA
CATGGGGACTGCCTAGGCTCGAATCTGTGGCACCCTGAGCAATTACTTAAATTGTGGAGCCTAGTTCCTCATCTGTAAGATGGACTTGAGATTCCTACCT
CTCATGATTACTATGGAGATTGAATAATTGGTAAAATTCTCCTAGCTCAGTGACTGCCACAKGATGGGTCTTTCAGATTTTGGTTCTCTTTAGCTTCTGG
TTCTTGAAAGAAATTAATCTGTATATAACATAAGAAACTTTGAAAGTMAAAAAAAMAAAAAATTTTAATTCCTCGTAGATTAATTGATTTGCTATCTTTT
AGTTTTTTTTTCTATGCATGTAGATGTATTAAATATGTAAATGTTTTTCAAAGTTGAGGTAATATTGTATAGAATTTTATAGCCTACATTTTAATTTCTT
GATATCTTAAGCATTTCACTTATTAGATATTGTTCAAAAATGCCATTTTTAATATTTGTATAATACCCTATCATGTGAGTATACCTTAACTAAGCCATTC
CCATATTCAACATTTTGTGTACTGTTTTTCTAATTACATATATTACAATGAACAACCTTA

Protein Sequence    (SEQ ID NO:1302):
MNGVLIPHTPIAVDFWSLRRAGTARLFFLSHMHSDHTVGLSSTWARPLYCSPITAHLLHRHLQVSKQWIQALEVGESHVLPLDEIGQETMTVTLLDANHC
PGSVMFLFEGYFGTILYTGDFRYTPSMLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQEAAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTW
VVLSPRRLELVQLLGLADVFTVEEKAGRIHAVDHMEICHSNMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFVAALKPCQVVPIVSR
RPCGGFQDSLSPRISVPLIPDSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQADRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQL
FPDLYSKEWNKAVPFCESQKRVTMLTAPLGFSVHLRSTDEEFISQKTREEIGLGSPLVPMGDDDGGPEATGNQSAWMGHGSPLSHSSKGTPLLATEFRGL
ALKYLLTPVNFFQAGYSSRRFDQQVEKYHKPC


SNP Information

Context             (SEQ ID NO:10530):
ACTGGGATTTTCAGTGCACTTAAGGTCTACAGATGAGGAGTTTATTTCTCAAAAAACCAGGGAGGAAATTGGTTTAGGGTCCCCCTTGGTACCCATGGGA
R
ATGATGATGGAGGTCCAGAAGCCACAGGGAATCAGAGTGCCTGGATGGGCCATGGTTCTCCCCTGTCCCACAGCAGCAAGGGCACCCCTCTTCTAGCTAC
Celera SNP ID:            hCV16027855
SNP Position Transcript:  1756
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1302, 462, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:10531):
CAGTGACTGCCACAGGATGGGTCTTTCAGATTTTGGTTCTCTTTAGCTTCTGGTTCTTGAAAGAAATTAATCTGTATATAACATAAGAAACTTTGAAAGT
M
AAAAAAACAAAAAATTTTAATTCCTCGTAGATTAATTGATTTGCTATCTTTTAGTTTTTTTTTCTATGCATGTAGATGTATTAAATATGTAAATGTTTTT
Celera SNP ID:            hCV8701464
SNP Position Transcript:  3548
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1302, None   



Context             (SEQ ID NO:10532):
TGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCC
R
ACCCTACCACCATGAATGGGGTCCTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTC
Celera SNP ID:            hCV25619072
SNP Position Transcript:  361
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,33|G,1)   total(A,66|G,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1302, None



Context             (SEQ ID NO:10533):
CTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGT
Y
ACCTACAGGTATCTAAGCAATGGATCCAAGCCCTGGAGGTTGGTGAGAGCCATGTATTACCCCTAGATGAAATTGGACAAGAGACCATGACCGTAACCCT
Celera SNP ID:            hCV25619066
SNP Position Transcript:  553
SNP Source:               Applera
Population(Allele,Count): african american(C,36|T,2)   caucasian(C,33|T,7)   total(C,69|T,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1302, 61, (H,CAC)   (Y,TAC)   



Context             (SEQ ID NO:10534):
GTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCC
K
GCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATCTAAGCAATGGATCCAAGCCCTGGAGGTTGGTGAGAGCCATGTA
Celera SNP ID:            hCV25619067
SNP Position Transcript:  509
SNP Source:               Applera
Population(Allele,Count): african american(G,37|T,1)   caucasian(G,38)   total(G,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1302, 46, (R,CGG)   (L,CTG)   



Context             (SEQ ID NO:10535):
GACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCAACCCTACCACCATGAATGGGGT
Y
CTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCG
Celera SNP ID:            hCV25619068
SNP Position Transcript:  384
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,39|T,1)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1302, 4, (V,GTC)   (V,GTT)   



Context             (SEQ ID NO:10536):
CCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATC
K
GCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTG
Celera SNP ID:            hCV1900107
SNP Position Transcript:  78
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|G,5)      total(G,5|T,3) ;no_pop(T,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1302, None   



Context             (SEQ ID NO:10537):
CCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATCTAAGCAATGGATCCAAGCCCTGGAGGTTGGTGAGAGCCA
Y
GTATTACCCCTAGATGAAATTGGACAAGAGACCATGACCGTAACCCTCCTCGATGCCAATCACTGTCCTGGTTCTGTCATGTTTCTCTTTGAAGGATATT
Celera SNP ID:            hCV27478865
SNP Position Transcript:  606
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1302, 78, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:10538):
GCCACAGGATGGGTCTTTCAGATTTTGGTTCTCTTTAGCTTCTGGTTCTTGAAAGAAATTAATCTGTATATAACATAAGAAACTTTGAAAGTCAAAAAAA
M
AAAAAATTTTAATTCCTCGTAGATTAATTGATTTGCTATCTTTTAGTTTTTTTTTCTATGCATGTAGATGTATTAAATATGTAAATGTTTTTCAAAGTTG
Celera SNP ID:            hCV16007276
SNP Position Transcript:  3556
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1302, None   



Context             (SEQ ID NO:10539):
GATGGGCCATGGTTCTCCCCTGTCCCACAGCAGCAAGGGCACCCCTCTTCTAGCTACTGAATTCAGGGGTCTAGCACTCAAATATCTTCTGACTCCAGTG
W
ACTTTTTCCAGGCAGGGTATTCTTCCAGGAGATTTGACCAGCAAGTGGAAAAATACCATAAACCCTGCTGAAGACAGGAGAGTACAGAATGACAACATTG
Celera SNP ID:            hCV25761893
SNP Position Transcript:  1900
SNP Source:               Applera
Population(Allele,Count): african american(A,37|T,1)   caucasian(A,39|T,1)   total(A,76|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1302, 510, (N,AAC)   (Y,TAC)   



Context             (SEQ ID NO:10540):
TAGTTCCTCATCTGTAAGATGGACTTGAGATTCCTACCTCTCATGATTACTATGGAGATTGAATAATTGGTAAAATTCTCCTAGCTCAGTGACTGCCACA
K
GATGGGTCTTTCAGATTTTGGTTCTCTTTAGCTTCTGGTTCTTGAAAGAAATTAATCTGTATATAACATAAGAAACTTTGAAAGTCAAAAAAACAAAAAA
Celera SNP ID:            hCV16020171
SNP Position Transcript:  3462
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1302, None   



Context             (SEQ ID NO:10541):
GCTCATAACCTGACAAAATGCCAAACTAGTAAGCAGGATAGCTGATACCACGGCTATGAGGGAGTAGGCTCTGAGAGGGCACAGACTTGTGGAGCTGGGC
R
TCTGGATCAAAACTGCTTTGGGATGGAACCTCGAGCCCTAGCAGTGAAGAAGATTCCATTTCTTGTCCAGGGGATTTAAAAGAGTTTTCTGCTTTGAGAG
Celera SNP ID:            hCV29059567
SNP Position Transcript:  3065
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1302, None   



Gene Number:                 237
Celera Gene:                 hCG38868 - 62000133104400
Celera Transcript:           hCT30114 - 62000133104432
Public Transcript Accession: NM_000478
Celera Protein:              hCP48738 - 197000069368306
Public Protein Accession:    NP_000469
Gene Symbol:                 ALPL
Protein Name:                alkaline phosphatase, liver/bone/kidney;AP-TNAP;HOPS;TNAP;TNSALP
Celera Genomic Axis:         GA_x5YUV32W3P1(4676913..4704067)
Chromosome:                  Chr1
OMIM number:                 171760
OMIM Information:            ALKALINE PHOSPHATASE, LIVER;ALPL


Transcript Sequence (SEQ ID NO:606):
AGAAACTCCCGGTGTGGCAGCTGAGATGGCCCAGGAAAGAACTATATTACCTTCAAAAAGAGAGGTACATGCGATGTTTGAGGTGGCATGAAGCTCAGTG
GTGTTATATTGGAATGAGTGAGTGACCATCCTGGAGCCTTCCTGAAAGAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCAC
CCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTA
ACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGYCCTGGAGCTTYAGAAGCTCAACACCAA
CGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGWTGGKTGTCTCCACAGTGAYGGCTGCCCGCATCCTCAAGRGTCRGCTCCACCACAACCCTGGG
GAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGAYGTACAACACCAATGCCCAGGTCCCTGACAGYGCCGGCACCGSCACCR
CCTACCTGTGTRGGGTGAAGGCCARTGAGGGCACCRTGRGGGTAAGCGYAGCCAMTGAGCRTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTC
CATCCTGCRCTGGGCCAAGGACGCTGGGAAATCTGTGGKCATTGTGACCACCACGAGAGTGAACCRTGCCACCCCCAGCRCCRCCTACRCCCACTYGGCT
GACYGGGACTGGTACTCAGACAACRRGATGCCCCCTGAGGCCTTGAGCCAGGGCTRTAAGGACATCGCCTACCAGCTCATGCATRACWTCAGGGACATTG
ACGTGATCATGGKGGGTGGCYRGRAATACATGTACCCCAAGAATAAAACTGATGTGGRGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGKCTGGACGK
CCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGAYACAAGCACTCCCACTTCATCTRGAACCGCACGGAACTCCTGACCCTTGACCCCCACAAT
GTGGACTACCTATTGGGTYTCTTCDAGCCAGGGKMCRTGCAGTACGAGCTGAACAGGAACAACGTGACGGWCCCGTCACTCTCCGAGATGGTGGTGGTGG
CCATCCAGATCCTGCGGAAGAACCCCAAASGCYKCTTCTTGCTGGTGGAAGGAGRCAGAATTGACCACRGGCACCATGAAGGAAAAGCCAAGCAGRCCCT
GCATGAGGCGGTGGASATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGYGGWCCATTCCCRCRTC
TTCACATTTGGTGGATACACCCCCYRTGGCAACTCTATCTTTGGTCTGKCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCMTGTATG
GCARTGGGCCTGGCTACAAGGYGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACYATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCT
GCGCCACGAGACCCACGGCRGGGAGGACRTGGCCRTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACRGCGTCCACRRGCAGAWCTACGTCCCCCAC
GTGATGGCGTATGCAGCCTSCWTCRGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCKCTGG
CCCTCTACCCCCTGAGCGYCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCYCTCAAG
GGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCARGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCC
CCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAMCAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGAC
TGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCA
GTCTCATCTCCTGACCYTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACARTGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAG
GGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACC
CAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGA
ACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACA

Protein Sequence    (SEQ ID NO:1303):
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKT
YNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQG
CKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN
RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPA
SSAGSLAAGPLLLALALYPLSVLF


SNP Information

Context             (SEQ ID NO:10542):
TGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCG
Y
CCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCC
Celera SNP ID:            hCV25473085
SNP Position Transcript:  1819
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,5|T,29)   total(C,6|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 522, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:10543):
CCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGC
R
CCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCAT
Celera SNP ID:            hCV12006677
SNP Position Transcript:  780
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 176, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10544):
CCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCAC
R
TCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTA
Celera SNP ID:            hCV7476257
SNP Position Transcript:  1398
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 382, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10545):
TACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCA
M
TGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACG
Celera SNP ID:            hCV707400
SNP Position Transcript:  655
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 134, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:10546):
ACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGC
R
TTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTG
Celera SNP ID:            hCV707401
SNP Position Transcript:  661
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 136, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10547):
CCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGAC
Y
GGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGT
Celera SNP ID:            hCV707406
SNP Position Transcript:  804
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 184, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10548):
GGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACG
R
GATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAA
Celera SNP ID:            hCV707408
SNP Position Transcript:  826
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 191, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10549):
AGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCT
R
TAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTG
Celera SNP ID:            hCV707409
SNP Position Transcript:  856
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 201, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:10550):
AAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGG
R
GTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTC
Celera SNP ID:            hCV26187933
SNP Position Transcript:  958
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 235, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10551):
CGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTAC
R
CCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACAT
Celera SNP ID:            hCV27528476
SNP Position Transcript:  789
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 179, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10552):
GGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCC
R
CCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCA
Celera SNP ID:            hCV12006683
SNP Position Transcript:  783
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 177, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10553):
CTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGG
W
TGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGT
Celera SNP ID:            hCV27861011
SNP Position Transcript:  438
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 62, (M,ATG)   (L,TTG)      



Context             (SEQ ID NO:10554):
CGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGG
K
TGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCC
Celera SNP ID:            hCV27861012
SNP Position Transcript:  442
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 63, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:10555):
GAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGA
Y
GGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTAC
Celera SNP ID:            hCV27861013
SNP Position Transcript:  457
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 68, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10556):
GTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGA
Y
GTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCC
Celera SNP ID:            hCV27861014
SNP Position Transcript:  553
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 100, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10557):
TGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGC
R
CTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGAC
Celera SNP ID:            hCV27861015
SNP Position Transcript:  709
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 152, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10558):
GGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGG
K
CATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAG
Celera SNP ID:            hCV27861016
SNP Position Transcript:  739
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 162, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10559):
CTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCAT
R
ACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGG
Celera SNP ID:            hCV27861017
SNP Position Transcript:  885
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 211, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:10560):
CGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAAC
W
TCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCAC
Celera SNP ID:            hCV27861018
SNP Position Transcript:  888
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 212, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10561):
TACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGG
K
GGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTT
Celera SNP ID:            hCV27861019
SNP Position Transcript:  913
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 220, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10562):
GGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAG
K
CTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACC
Celera SNP ID:            hCV707411
SNP Position Transcript:  992
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 246, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:10563):
GAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGA
Y
ACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCA
Celera SNP ID:            hCV707412
SNP Position Transcript:  1041
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,22)   caucasian(C,4|T,36)   total(C,16|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 263, (H,CAC)   (Y,TAC)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 263, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:10564):
ACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGG
W
CCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGG
Celera SNP ID:            hCV707418
SNP Position Transcript:  1171
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 306, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10565):
GCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGG
W
CCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACT
Celera SNP ID:            hCV27531239
SNP Position Transcript:  1387
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 378, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10566):
AAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCA
R
TGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCT
Celera SNP ID:            hCV1482820
SNP Position Transcript:  625
SNP Source:               Celera
Population(Allele,Count): Caucasian(G,0|A,311)   Chinese(G,0|A,60)   Japanese(G,2|A,19)   African(G,0|A,98)   total(G,2|A,488)   no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 124, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10567):
GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGA
S
ATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGAT
Celera SNP ID:            hCV26187947
SNP Position Transcript:  1316
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 354, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:10568):
AAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTG
Y
GGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTC
Celera SNP ID:            hCV26187948
SNP Position Transcript:  1384
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 377, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10569):
GCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACC
Y
TCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTC
Celera SNP ID:            hCV16174303
SNP Position Transcript:  2217
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,263|C,1238)   total(C,1238|T,263) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1303, None   



Context             (SEQ ID NO:10570):
CAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGC
Y
GGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTG
Celera SNP ID:            hCV27861020
SNP Position Transcript:  921
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 223, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10571):
CGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGG
R
AATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAA
Celera SNP ID:            hCV27861021
SNP Position Transcript:  924
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 224, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:10572):
GAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCT
R
GAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAAC
Celera SNP ID:            hCV27861022
SNP Position Transcript:  1063
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 270, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10573):
CTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGT
Y
TCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAA
Celera SNP ID:            hCV27861023
SNP Position Transcript:  1119
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 289, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10574):
GAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTC
D
AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCC
Celera SNP ID:            hCV27861024
SNP Position Transcript:  1125
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 291, (K,AAG)   (E,GAG)      291, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:10575):
TCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAG
Y
GCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGG
Celera SNP ID:            hCV7476381
SNP Position Transcript:  584
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,36|T,4)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1303, 110, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1303, 110, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10576):
CCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGG
M
CATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTC
Celera SNP ID:            hCV27861025
SNP Position Transcript:  1135
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 294, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:10577):
ACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGG
K
ACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTT
Celera SNP ID:            hCV27861026
SNP Position Transcript:  1134
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 294, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:10578):
GAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGAC
R
TGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTT
Celera SNP ID:            hCV27861027
SNP Position Transcript:  1137
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 295, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10579):
AGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAA
S
GCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAT
Celera SNP ID:            hCV27861028
SNP Position Transcript:  1230
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 326, (R,CGC)   (G,GGC)      



Context             (SEQ ID NO:10580):
GACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCT
K
CTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGG
Celera SNP ID:            hCV27861029
SNP Position Transcript:  1234
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 327, (C,TGC)   (F,TTC)      



Context             (SEQ ID NO:10581):
GGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAG
R
CCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCA
Celera SNP ID:            hCV707421
SNP Position Transcript:  1296
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 348, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10582):
GCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCC
R
CGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTG
Celera SNP ID:            hCV707422
SNP Position Transcript:  1396
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 381, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10583):
TGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAAC
R
AGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAA
Celera SNP ID:            hCV27528529
SNP Position Transcript:  825
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 191, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10584):
ACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCC
R
TCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCT
Celera SNP ID:            hCV25620569
SNP Position Transcript:  1635
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 461, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10585):
ACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCA
R
TGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGC
Celera SNP ID:            hCV26187950
SNP Position Transcript:  1504
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 417, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10586):
CAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCAC
R
GCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCT
Celera SNP ID:            hCV707429
SNP Position Transcript:  1671
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 473, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:10587):
CCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGG
Y
GGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGG
Celera SNP ID:            hCV26187951
SNP Position Transcript:  1522
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 423, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10588):
CGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGAC
R
TGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGC
Celera SNP ID:            hCV26187952
SNP Position Transcript:  1629
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 459, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10589):
GCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACG
R
GCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGC
Celera SNP ID:            hCV26187953
SNP Position Transcript:  1681
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 476, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10590):
GGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGC
W
TCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCT
Celera SNP ID:            hCV26187954
SNP Position Transcript:  1722
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 490, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10591):
GGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGC
R
GGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTG
Celera SNP ID:            hCV27528925
SNP Position Transcript:  1620
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 456, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10592):
GTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG
Y
CCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTC
Celera SNP ID:            hCV707393
SNP Position Transcript:  373
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 40, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:10593):
AAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCA
M
CAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCC
Celera SNP ID:            hCV7476314
SNP Position Transcript:  2062
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1303, None   



Context             (SEQ ID NO:10594):
GGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAG
R
GTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCC
Celera SNP ID:            hCV12006665
SNP Position Transcript:  477
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 75, (S,AGT)   (G,GGT)      



Context             (SEQ ID NO:10595):
GCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCC
Y
CTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAGGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAA
Celera SNP ID:            hCV1482838
SNP Position Transcript:  1894
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,13)      total(C,13|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1303, None   



Context             (SEQ ID NO:10596):
GCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCA
R
GAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTT
Celera SNP ID:            hCV1482839
SNP Position Transcript:  1955
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;JBIC-allele(A,107|G,630)   total(G,630|A,107)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1303, None   



Context             (SEQ ID NO:10597):
GGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACC
R
CCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTC
Celera SNP ID:            hCV12006668
SNP Position Transcript:  600
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 116, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10598):
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGT
R
GGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTG
Celera SNP ID:            hCV707398
SNP Position Transcript:  612
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 120, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10599):
GGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTG
R
GGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGG
Celera SNP ID:            hCV707399
SNP Position Transcript:  639
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 129, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10600):
GGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGC
Y
TCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG
Celera SNP ID:            hCV27861030
SNP Position Transcript:  1233
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 327, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10601):
AGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAG
R
CAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCC
Celera SNP ID:            hCV27861031
SNP Position Transcript:  1255
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 334, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:10602):
GGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCC
Y
GTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGT
Celera SNP ID:            hCV27861032
SNP Position Transcript:  1425
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 391, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10603):
GCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCC
R
TGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG
Celera SNP ID:            hCV27861033
SNP Position Transcript:  1426
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 391, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10604):
GACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTG
K
CCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTC
Celera SNP ID:            hCV27861034
SNP Position Transcript:  1449
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 399, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:10605):
CCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGC
K
CTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCT
Celera SNP ID:            hCV25620570
SNP Position Transcript:  1796
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1303, 514, (A,GCG)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1303, 514, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:10606):
GAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGAC
Y
ATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCA
Celera SNP ID:            hCV27861035
SNP Position Transcript:  1560
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 436, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:10607):
GACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACG
K
CCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAAT
Celera SNP ID:            hCV12006700
SNP Position Transcript:  1000
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 249, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10608):
GGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCAC
R
AGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGG
Celera SNP ID:            hCV707430
SNP Position Transcript:  1680
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 476, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10609):
TCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGA
W
CTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTG
Celera SNP ID:            hCV707431
SNP Position Transcript:  1687
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 478, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10610):
GGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCT
S
CATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTC
Celera SNP ID:            hCV707432
SNP Position Transcript:  1720
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 489, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:10611):
TGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTT
Y
AGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCT
Celera SNP ID:            hCV26187921
SNP Position Transcript:  384
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 44, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:10612):
CGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACC
R
TGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGT
Celera SNP ID:            hCV27859443
SNP Position Transcript:  636
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 128, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10613):
GGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATC
R
GGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTT
Celera SNP ID:            hCV707433
SNP Position Transcript:  1725
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 491, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10614):
CTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTC
R
GCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGAC
Celera SNP ID:            hCV26187922
SNP Position Transcript:  481
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 76, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10615):
AAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCG
Y
AGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACC
Celera SNP ID:            hCV27859444
SNP Position Transcript:  649
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 132, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:10616):
AACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCC
R
GAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGG
Celera SNP ID:            hCV27859445
SNP Position Transcript:  922
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 223, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10617):
GGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCAC
R
GGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCT
Celera SNP ID:            hCV27859446
SNP Position Transcript:  1269
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 339, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10618):
CCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATC
M
TGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGT
Celera SNP ID:            hCV27859447
SNP Position Transcript:  1494
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 414, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10619):
CCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCG
S
CACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTC
Celera SNP ID:            hCV26187926
SNP Position Transcript:  595
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 114, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:10620):
CGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACC
R
TGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATC
Celera SNP ID:            hCV26187927
SNP Position Transcript:  766
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 171, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10621):
ACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACT
Y
GGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGAC
Celera SNP ID:            hCV26187928
SNP Position Transcript:  796
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1303, 181, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10622):
CTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACA
R
TGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCA
Celera SNP ID:            hCV1482840
SNP Position Transcript:  2262
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   JBIC-allele(A,526|G,967)   total(G,967|A,526)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1303, None   



Gene Number:                 237
Celera Gene:                 hCG38868 - 62000133104400
Celera Transcript:           hCT2253629 - 62000133104448
Public Transcript Accession: NM_000478
Celera Protein:              hCP1855173 - 197000069368307
Public Protein Accession:    NP_000469
Gene Symbol:                 ALPL
Protein Name:                alkaline phosphatase, liver/bone/kidney;AP-TNAP;HOPS;TNAP;TNSALP
Celera Genomic Axis:         GA_x5YUV32W3P1(4633845..4704067)
Chromosome:                  Chr1
OMIM number:                 171760
OMIM Information:            ALKALINE PHOSPHATASE, LIVER;ALPL


Transcript Sequence (SEQ ID NO:607):
GGGACACGTGGGCAGAGACGGATAAAGACAGAGACCCAGAGAAAGCCAGATATGTTGACAGACACAGAGACAGACGCCAGAGAGGAAGGCAGACAAAGAG
ACGGGTGGAGACAAAGACTCCCACCAAGAGACGCAGAAGGAAGATGCCGACGGTAAAGACAAAACAGGAGACGCGCGCAAGGAGCAGGATTGGAACATCA
GTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCA
CCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACAC
TGAAATATGYCCTGGAGCTTYAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGWTGGKTGTCTCCACAGTGAYGGCTGC
CCGCATCCTCAAGRGTCRGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGAYGTACAACACC
AATGCCCAGGTCCCTGACAGYGCCGGCACCGSCACCRCCTACCTGTGTRGGGTGAAGGCCARTGAGGGCACCRTGRGGGTAAGCGYAGCCAMTGAGCRTT
CCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCRCTGGGCCAAGGACGCTGGGAAATCTGTGGKCATTGTGACCACCACGAGAGTGAA
CCRTGCCACCCCCAGCRCCRCCTACRCCCACTYGGCTGACYGGGACTGGTACTCAGACAACRRGATGCCCCCTGAGGCCTTGAGCCAGGGCTRTAAGGAC
ATCGCCTACCAGCTCATGCATRACWTCAGGGACATTGACGTGATCATGGKGGGTGGCYRGRAATACATGTACCCCAAGAATAAAACTGATGTGGRGTATG
AGAGTGACGAGAAAGCCAGGGGCACGAGKCTGGACGKCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGAYACAAGCACTCCCACTTCATCTR
GAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTYTCTTCDAGCCAGGGKMCRTGCAGTACGAGCTGAACAGGAACAAC
GTGACGGWCCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAASGCYKCTTCTTGCTGGTGGAAGGAGRCAGAATTG
ACCACRGGCACCATGAAGGAAAAGCCAAGCAGRCCCTGCATGAGGCGGTGGASATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGA
CACTCTGACCGTGGTCACTGYGGWCCATTCCCRCRTCTTCACATTTGGTGGATACACCCCCYRTGGCAACTCTATCTTTGGTCTGKCCCCCATGCTGAGT
GACACAGACAAGAAGCCCTTCACTGCCATCMTGTATGGCARTGGGCCTGGCTACAAGGYGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACYATG
CTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCRGGGAGGACRTGGCCRTCTTCTCCAAGGGCCCCATGGCGCACCT
GCTGCACRGCGTCCACRRGCAGAWCTACGTCCCCCACGTGATGGCGTATGCAGCCTSCWTCRGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCA
GGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCKCTGGCCCTCTACCCCCTGAGCGYCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGAC
AGATGCCAACTTCCCACACGGCAGCCCCCCYCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCARGAAACCAA
AGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAMC
AGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCT
GAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCYTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACART
GCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAG
GGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACAC
ACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTA
AATAAAACTTTCCAAATATTTCCGAGGACA

Protein Sequence    (SEQ ID NO:1304):
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKT
YNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQG
CKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN
RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPA
SSAGSLAAGPLLLALALYPLSVLF


SNP Information

Context             (SEQ ID NO:10623):
TGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCG
Y
CCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCC
Celera SNP ID:            hCV25473085
SNP Position Transcript:  1856
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,5|T,29)   total(C,6|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 522, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:10624):
CCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGC
R
CCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCAT
Celera SNP ID:            hCV12006677
SNP Position Transcript:  817
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 176, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10625):
CCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCAC
R
TCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTA
Celera SNP ID:            hCV7476257
SNP Position Transcript:  1435
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 382, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10626):
TACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCA
M
TGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACG
Celera SNP ID:            hCV707400
SNP Position Transcript:  692
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 134, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:10627):
ACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGC
R
TTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTG
Celera SNP ID:            hCV707401
SNP Position Transcript:  698
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 136, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10628):
CCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGAC
Y
GGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGT
Celera SNP ID:            hCV707406
SNP Position Transcript:  841
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 184, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10629):
GGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACG
R
GATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAA
Celera SNP ID:            hCV707408
SNP Position Transcript:  863
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 191, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10630):
AGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCT
R
TAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTG
Celera SNP ID:            hCV707409
SNP Position Transcript:  893
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 201, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:10631):
AAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGG
R
GTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTC
Celera SNP ID:            hCV26187933
SNP Position Transcript:  995
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 235, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10632):
CGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTAC
R
CCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACAT
Celera SNP ID:            hCV27528476
SNP Position Transcript:  826
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 179, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10633):
GGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCC
R
CCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCA
Celera SNP ID:            hCV12006683
SNP Position Transcript:  820
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 177, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10634):
CTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGG
W
TGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGT
Celera SNP ID:            hCV27861011
SNP Position Transcript:  475
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 62, (M,ATG)   (L,TTG)      



Context             (SEQ ID NO:10635):
CGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGG
K
TGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCC
Celera SNP ID:            hCV27861012
SNP Position Transcript:  479
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 63, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:10636):
GAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGA
Y
GGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTAC
Celera SNP ID:            hCV27861013
SNP Position Transcript:  494
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 68, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10637):
GTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGA
Y
GTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCC
Celera SNP ID:            hCV27861014
SNP Position Transcript:  590
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 100, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10638):
TGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGC
R
CTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGAC
Celera SNP ID:            hCV27861015
SNP Position Transcript:  746
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 152, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10639):
GGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGG
K
CATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAG
Celera SNP ID:            hCV27861016
SNP Position Transcript:  776
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 162, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10640):
CTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCAT
R
ACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGG
Celera SNP ID:            hCV27861017
SNP Position Transcript:  922
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 211, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:10641):
CGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAAC
W
TCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCAC
Celera SNP ID:            hCV27861018
SNP Position Transcript:  925
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 212, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10642):
TACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGG
K
GGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTT
Celera SNP ID:            hCV27861019
SNP Position Transcript:  950
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 220, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10643):
GGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAG
K
CTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACC
Celera SNP ID:            hCV707411
SNP Position Transcript:  1029
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 246, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:10644):
GAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGA
Y
ACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCA
Celera SNP ID:            hCV707412
SNP Position Transcript:  1078
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,22)   caucasian(C,4|T,36)   total(C,16|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 263, (H,CAC)   (Y,TAC)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 263, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:10645):
ACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGG
W
CCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGG
Celera SNP ID:            hCV707418
SNP Position Transcript:  1208
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 306, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10646):
GCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGG
W
CCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACT
Celera SNP ID:            hCV27531239
SNP Position Transcript:  1424
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 378, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10647):
AAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCA
R
TGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCT
Celera SNP ID:            hCV1482820
SNP Position Transcript:  662
SNP Source:               Celera
Population(Allele,Count): Caucasian(G,0|A,311)   Chinese(G,0|A,60)   Japanese(G,2|A,19)   African(G,0|A,98)   total(G,2|A,488)   no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 124, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10648):
GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGA
S
ATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGAT
Celera SNP ID:            hCV26187947
SNP Position Transcript:  1353
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 354, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:10649):
AAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTG
Y
GGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTC
Celera SNP ID:            hCV26187948
SNP Position Transcript:  1421
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 377, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10650):
GCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACC
Y
TCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTC
Celera SNP ID:            hCV16174303
SNP Position Transcript:  2254
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,263|C,1238)   total(C,1238|T,263) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1304, None   



Context             (SEQ ID NO:10651):
CAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGC
Y
GGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTG
Celera SNP ID:            hCV27861020
SNP Position Transcript:  958
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 223, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10652):
CGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGG
R
AATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAA
Celera SNP ID:            hCV27861021
SNP Position Transcript:  961
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 224, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:10653):
GAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCT
R
GAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAAC
Celera SNP ID:            hCV27861022
SNP Position Transcript:  1100
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 270, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10654):
CTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGT
Y
TCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAA
Celera SNP ID:            hCV27861023
SNP Position Transcript:  1156
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 289, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10655):
GAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTC
D
AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCC
Celera SNP ID:            hCV27861024
SNP Position Transcript:  1162
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 291, (K,AAG)   (E,GAG)      291, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:10656):
TCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAG
Y
GCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGG
Celera SNP ID:            hCV7476381
SNP Position Transcript:  621
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,36|T,4)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1304, 110, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1304, 110, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10657):
CCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGG
M
CATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTC
Celera SNP ID:            hCV27861025
SNP Position Transcript:  1172
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 294, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:10658):
ACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGG
K
ACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTT
Celera SNP ID:            hCV27861026
SNP Position Transcript:  1171
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 294, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:10659):
GAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGAC
R
TGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTT
Celera SNP ID:            hCV27861027
SNP Position Transcript:  1174
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 295, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10660):
AGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAA
S
GCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAT
Celera SNP ID:            hCV27861028
SNP Position Transcript:  1267
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 326, (R,CGC)   (G,GGC)      



Context             (SEQ ID NO:10661):
GACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCT
K
CTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGG
Celera SNP ID:            hCV27861029
SNP Position Transcript:  1271
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 327, (C,TGC)   (F,TTC)      



Context             (SEQ ID NO:10662):
GGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAG
R
CCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCA
Celera SNP ID:            hCV707421
SNP Position Transcript:  1333
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 348, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10663):
GCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCC
R
CGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTG
Celera SNP ID:            hCV707422
SNP Position Transcript:  1433
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 381, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10664):
TGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAAC
R
AGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAA
Celera SNP ID:            hCV27528529
SNP Position Transcript:  862
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 191, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10665):
ACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCC
R
TCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCT
Celera SNP ID:            hCV25620569
SNP Position Transcript:  1672
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 461, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10666):
ACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCA
R
TGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGC
Celera SNP ID:            hCV26187950
SNP Position Transcript:  1541
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 417, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10667):
CAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCAC
R
GCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCT
Celera SNP ID:            hCV707429
SNP Position Transcript:  1708
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 473, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:10668):
CCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGG
Y
GGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGG
Celera SNP ID:            hCV26187951
SNP Position Transcript:  1559
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 423, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10669):
CGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGAC
R
TGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGC
Celera SNP ID:            hCV26187952
SNP Position Transcript:  1666
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 459, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10670):
GCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACG
R
GCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGC
Celera SNP ID:            hCV26187953
SNP Position Transcript:  1718
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 476, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10671):
GGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGC
W
TCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCT
Celera SNP ID:            hCV26187954
SNP Position Transcript:  1759
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 490, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10672):
GGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGC
R
GGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTG
Celera SNP ID:            hCV27528925
SNP Position Transcript:  1657
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 456, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10673):
GTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG
Y
CCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTC
Celera SNP ID:            hCV707393
SNP Position Transcript:  410
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 40, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:10674):
AAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCA
M
CAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCC
Celera SNP ID:            hCV7476314
SNP Position Transcript:  2099
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1304, None   



Context             (SEQ ID NO:10675):
GGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAG
R
GTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCC
Celera SNP ID:            hCV12006665
SNP Position Transcript:  514
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 75, (S,AGT)   (G,GGT)      



Context             (SEQ ID NO:10676):
GCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCC
Y
CTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAGGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAA
Celera SNP ID:            hCV1482838
SNP Position Transcript:  1931
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,13)      total(C,13|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1304, None   



Context             (SEQ ID NO:10677):
GCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCA
R
GAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTT
Celera SNP ID:            hCV1482839
SNP Position Transcript:  1992
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;JBIC-allele(A,107|G,630)   total(G,630|A,107)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1304, None   



Context             (SEQ ID NO:10678):
GGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACC
R
CCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTC
Celera SNP ID:            hCV12006668
SNP Position Transcript:  637
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 116, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10679):
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGT
R
GGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTG
Celera SNP ID:            hCV707398
SNP Position Transcript:  649
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 120, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10680):
GGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTG
R
GGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGG
Celera SNP ID:            hCV707399
SNP Position Transcript:  676
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 129, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10681):
GGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGC
Y
TCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG
Celera SNP ID:            hCV27861030
SNP Position Transcript:  1270
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 327, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10682):
AGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAG
R
CAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCC
Celera SNP ID:            hCV27861031
SNP Position Transcript:  1292
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 334, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:10683):
GGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCC
Y
GTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGT
Celera SNP ID:            hCV27861032
SNP Position Transcript:  1462
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 391, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10684):
GCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCC
R
TGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG
Celera SNP ID:            hCV27861033
SNP Position Transcript:  1463
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 391, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10685):
GACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTG
K
CCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTC
Celera SNP ID:            hCV27861034
SNP Position Transcript:  1486
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 399, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:10686):
CCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGC
K
CTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCT
Celera SNP ID:            hCV25620570
SNP Position Transcript:  1833
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1304, 514, (A,GCG)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1304, 514, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:10687):
GAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGAC
Y
ATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCA
Celera SNP ID:            hCV27861035
SNP Position Transcript:  1597
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 436, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:10688):
GACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACG
K
CCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAAT
Celera SNP ID:            hCV12006700
SNP Position Transcript:  1037
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 249, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10689):
GGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCAC
R
AGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGG
Celera SNP ID:            hCV707430
SNP Position Transcript:  1717
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 476, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10690):
TCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGA
W
CTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTG
Celera SNP ID:            hCV707431
SNP Position Transcript:  1724
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 478, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10691):
GGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCT
S
CATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTC
Celera SNP ID:            hCV707432
SNP Position Transcript:  1757
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 489, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:10692):
TGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTT
Y
AGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCT
Celera SNP ID:            hCV26187921
SNP Position Transcript:  421
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 44, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:10693):
CGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACC
R
TGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGT
Celera SNP ID:            hCV27859443
SNP Position Transcript:  673
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 128, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10694):
GGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATC
R
GGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTT
Celera SNP ID:            hCV707433
SNP Position Transcript:  1762
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 491, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10695):
CTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTC
R
GCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGAC
Celera SNP ID:            hCV26187922
SNP Position Transcript:  518
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 76, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10696):
AAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCG
Y
AGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACC
Celera SNP ID:            hCV27859444
SNP Position Transcript:  686
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 132, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:10697):
AACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCC
R
GAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGG
Celera SNP ID:            hCV27859445
SNP Position Transcript:  959
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 223, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10698):
GGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCAC
R
GGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCT
Celera SNP ID:            hCV27859446
SNP Position Transcript:  1306
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 339, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10699):
CCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATC
M
TGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGT
Celera SNP ID:            hCV27859447
SNP Position Transcript:  1531
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 414, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10700):
CCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCG
S
CACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTC
Celera SNP ID:            hCV26187926
SNP Position Transcript:  632
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 114, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:10701):
CGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACC
R
TGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATC
Celera SNP ID:            hCV26187927
SNP Position Transcript:  803
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 171, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10702):
ACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACT
Y
GGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGAC
Celera SNP ID:            hCV26187928
SNP Position Transcript:  833
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1304, 181, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10703):
CTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACA
R
TGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCA
Celera SNP ID:            hCV1482840
SNP Position Transcript:  2299
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   JBIC-allele(A,526|G,967)   total(G,967|A,526)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1304, None   



Gene Number:                 237
Celera Gene:                 hCG38868 - 62000133104400
Celera Transcript:           hCT1777409 - 62000133104401
Public Transcript Accession: NM_000478
Celera Protein:              hCP1713361 - 197000069368303
Public Protein Accession:    NP_000469
Gene Symbol:                 ALPL
Protein Name:                alkaline phosphatase, liver/bone/kidney;AP-TNAP;HOPS;TNAP;TNSALP
Celera Genomic Axis:         GA_x5YUV32W3P1(4635021..4704067)
Chromosome:                  Chr1
OMIM number:                 171760
OMIM Information:            ALKALINE PHOSPHATASE, LIVER;ALPL


Transcript Sequence (SEQ ID NO:608):
TCGGGCCCCGCGGCCGCCTTTATAAGGCGGCGGGGGTGGTGGCCCGGGCCGCGTTGCGCTCCCGCCACTCCGCGCCCGCTATCCTGGCTCCGTGCTCCCA
CGCGCTTGTGCCTGGACGGACCCTCGCCAGTGCTCTGCGCAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCG
ATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTA
GTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGYCCTGGAGCTTYAGAAGCTCAACACCAACGTGGCTA
AGAATGTCATCATGTTCCTGGGAGATGGGWTGGKTGTCTCCACAGTGAYGGCTGCCCGCATCCTCAAGRGTCRGCTCCACCACAACCCTGGGGAGGAGAC
CAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGAYGTACAACACCAATGCCCAGGTCCCTGACAGYGCCGGCACCGSCACCRCCTACCTG
TGTRGGGTGAAGGCCARTGAGGGCACCRTGRGGGTAAGCGYAGCCAMTGAGCRTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGC
RCTGGGCCAAGGACGCTGGGAAATCTGTGGKCATTGTGACCACCACGAGAGTGAACCRTGCCACCCCCAGCRCCRCCTACRCCCACTYGGCTGACYGGGA
CTGGTACTCAGACAACRRGATGCCCCCTGAGGCCTTGAGCCAGGGCTRTAAGGACATCGCCTACCAGCTCATGCATRACWTCAGGGACATTGACGTGATC
ATGGKGGGTGGCYRGRAATACATGTACCCCAAGAATAAAACTGATGTGGRGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGKCTGGACGKCCTGGACC
TCGTTGACACCTGGAAGAGCTTCAAACCGAGAYACAAGCACTCCCACTTCATCTRGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTA
CCTATTGGGTYTCTTCDAGCCAGGGKMCRTGCAGTACGAGCTGAACAGGAACAACGTGACGGWCCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAG
ATCCTGCGGAAGAACCCCAAASGCYKCTTCTTGCTGGTGGAAGGAGRCAGAATTGACCACRGGCACCATGAAGGAAAAGCCAAGCAGRCCCTGCATGAGG
CGGTGGASATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGYGGWCCATTCCCRCRTCTTCACATT
TGGTGGATACACCCCCYRTGGCAACTCTATCTTTGGTCTGKCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCMTGTATGGCARTGGG
CCTGGCTACAAGGYGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACYATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACG
AGACCCACGGCRGGGAGGACRTGGCCRTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACRGCGTCCACRRGCAGAWCTACGTCCCCCACGTGATGGC
GTATGCAGCCTSCWTCRGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCKCTGGCCCTCTAC
CCCCTGAGCGYCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCYCTCAAGGGGCAGGG
AGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCARGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGC
CAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAMCAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACA
TTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATC
TCCTGACCYTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACARTGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTG
AGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGG
CCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAA
AAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACA

Protein Sequence    (SEQ ID NO:1305):
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKT
YNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQG
CKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN
RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPA
SSAGSLAAGPLLLALALYPLSVLF


SNP Information

Context             (SEQ ID NO:10704):
TGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCG
Y
CCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCC
Celera SNP ID:            hCV25473085
SNP Position Transcript:  1811
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,5|T,29)   total(C,6|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 522, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:10705):
CCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGC
R
CCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCAT
Celera SNP ID:            hCV12006677
SNP Position Transcript:  772
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 176, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10706):
CCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCAC
R
TCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTA
Celera SNP ID:            hCV7476257
SNP Position Transcript:  1390
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 382, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10707):
TACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCA
M
TGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACG
Celera SNP ID:            hCV707400
SNP Position Transcript:  647
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 134, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:10708):
ACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGC
R
TTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTG
Celera SNP ID:            hCV707401
SNP Position Transcript:  653
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 136, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10709):
CCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGAC
Y
GGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGT
Celera SNP ID:            hCV707406
SNP Position Transcript:  796
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 184, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10710):
GGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACG
R
GATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAA
Celera SNP ID:            hCV707408
SNP Position Transcript:  818
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 191, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10711):
AGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCT
R
TAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTG
Celera SNP ID:            hCV707409
SNP Position Transcript:  848
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 201, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:10712):
AAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGG
R
GTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTC
Celera SNP ID:            hCV26187933
SNP Position Transcript:  950
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 235, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10713):
CGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTAC
R
CCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACAT
Celera SNP ID:            hCV27528476
SNP Position Transcript:  781
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 179, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10714):
GGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCC
R
CCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCA
Celera SNP ID:            hCV12006683
SNP Position Transcript:  775
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 177, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10715):
CTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGG
W
TGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGT
Celera SNP ID:            hCV27861011
SNP Position Transcript:  430
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 62, (M,ATG)   (L,TTG)      



Context             (SEQ ID NO:10716):
CGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGG
K
TGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCC
Celera SNP ID:            hCV27861012
SNP Position Transcript:  434
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 63, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:10717):
GAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGA
Y
GGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTAC
Celera SNP ID:            hCV27861013
SNP Position Transcript:  449
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 68, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10718):
GTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGA
Y
GTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCC
Celera SNP ID:            hCV27861014
SNP Position Transcript:  545
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 100, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10719):
TGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGC
R
CTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGAC
Celera SNP ID:            hCV27861015
SNP Position Transcript:  701
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 152, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10720):
GGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGG
K
CATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAG
Celera SNP ID:            hCV27861016
SNP Position Transcript:  731
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 162, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10721):
CTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCAT
R
ACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGG
Celera SNP ID:            hCV27861017
SNP Position Transcript:  877
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 211, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:10722):
CGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAAC
W
TCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCAC
Celera SNP ID:            hCV27861018
SNP Position Transcript:  880
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 212, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10723):
TACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGG
K
GGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTT
Celera SNP ID:            hCV27861019
SNP Position Transcript:  905
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 220, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10724):
GGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAG
K
CTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACC
Celera SNP ID:            hCV707411
SNP Position Transcript:  984
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 246, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:10725):
GAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGA
Y
ACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCA
Celera SNP ID:            hCV707412
SNP Position Transcript:  1033
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,22)   caucasian(C,4|T,36)   total(C,16|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 263, (H,CAC)   (Y,TAC)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 263, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:10726):
ACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGG
W
CCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGG
Celera SNP ID:            hCV707418
SNP Position Transcript:  1163
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 306, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10727):
GCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGG
W
CCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACT
Celera SNP ID:            hCV27531239
SNP Position Transcript:  1379
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 378, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10728):
AAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCA
R
TGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCT
Celera SNP ID:            hCV1482820
SNP Position Transcript:  617
SNP Source:               Celera
Population(Allele,Count): Caucasian(G,0|A,311)   Chinese(G,0|A,60)   Japanese(G,2|A,19)   African(G,0|A,98)   total(G,2|A,488)   no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 124, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10729):
GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGA
S
ATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGAT
Celera SNP ID:            hCV26187947
SNP Position Transcript:  1308
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 354, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:10730):
AAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTG
Y
GGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTC
Celera SNP ID:            hCV26187948
SNP Position Transcript:  1376
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 377, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10731):
GCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACC
Y
TCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTC
Celera SNP ID:            hCV16174303
SNP Position Transcript:  2209
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,263|C,1238)   total(C,1238|T,263) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1305, None   



Context             (SEQ ID NO:10732):
CAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGC
Y
GGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTG
Celera SNP ID:            hCV27861020
SNP Position Transcript:  913
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 223, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10733):
CGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGG
R
AATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAA
Celera SNP ID:            hCV27861021
SNP Position Transcript:  916
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 224, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:10734):
GAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCT
R
GAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAAC
Celera SNP ID:            hCV27861022
SNP Position Transcript:  1055
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 270, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10735):
CTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGT
Y
TCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAA
Celera SNP ID:            hCV27861023
SNP Position Transcript:  1111
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 289, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10736):
GAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTC
D
AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCC
Celera SNP ID:            hCV27861024
SNP Position Transcript:  1117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 291, (K,AAG)   (E,GAG)      291, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:10737):
TCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAG
Y
GCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGG
Celera SNP ID:            hCV7476381
SNP Position Transcript:  576
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,36|T,4)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1305, 110, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1305, 110, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10738):
CCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGG
M
CATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTC
Celera SNP ID:            hCV27861025
SNP Position Transcript:  1127
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 294, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:10739):
ACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGG
K
ACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTT
Celera SNP ID:            hCV27861026
SNP Position Transcript:  1126
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 294, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:10740):
GAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGAC
R
TGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTT
Celera SNP ID:            hCV27861027
SNP Position Transcript:  1129
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 295, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10741):
AGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAA
S
GCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAT
Celera SNP ID:            hCV27861028
SNP Position Transcript:  1222
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 326, (R,CGC)   (G,GGC)      



Context             (SEQ ID NO:10742):
GACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCT
K
CTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGG
Celera SNP ID:            hCV27861029
SNP Position Transcript:  1226
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 327, (C,TGC)   (F,TTC)      



Context             (SEQ ID NO:10743):
GGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAG
R
CCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCA
Celera SNP ID:            hCV707421
SNP Position Transcript:  1288
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 348, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10744):
GCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCC
R
CGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTG
Celera SNP ID:            hCV707422
SNP Position Transcript:  1388
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 381, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10745):
TGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAAC
R
AGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAA
Celera SNP ID:            hCV27528529
SNP Position Transcript:  817
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 191, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10746):
ACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCC
R
TCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCT
Celera SNP ID:            hCV25620569
SNP Position Transcript:  1627
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 461, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10747):
ACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCA
R
TGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGC
Celera SNP ID:            hCV26187950
SNP Position Transcript:  1496
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 417, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10748):
CAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCAC
R
GCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCT
Celera SNP ID:            hCV707429
SNP Position Transcript:  1663
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 473, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:10749):
CCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGG
Y
GGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGG
Celera SNP ID:            hCV26187951
SNP Position Transcript:  1514
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 423, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10750):
CGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGAC
R
TGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGC
Celera SNP ID:            hCV26187952
SNP Position Transcript:  1621
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 459, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10751):
GCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACG
R
GCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGC
Celera SNP ID:            hCV26187953
SNP Position Transcript:  1673
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 476, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10752):
GGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGC
W
TCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCT
Celera SNP ID:            hCV26187954
SNP Position Transcript:  1714
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 490, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10753):
GGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGC
R
GGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTG
Celera SNP ID:            hCV27528925
SNP Position Transcript:  1612
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 456, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10754):
GTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG
Y
CCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTC
Celera SNP ID:            hCV707393
SNP Position Transcript:  365
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 40, (A,GCC)   (V,GTC)      



Context             (SEQ ID NO:10755):
AAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCA
M
CAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCC
Celera SNP ID:            hCV7476314
SNP Position Transcript:  2054
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1305, None   



Context             (SEQ ID NO:10756):
GGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAG
R
GTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCC
Celera SNP ID:            hCV12006665
SNP Position Transcript:  469
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 75, (S,AGT)   (G,GGT)      



Context             (SEQ ID NO:10757):
GCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCC
Y
CTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAGGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAA
Celera SNP ID:            hCV1482838
SNP Position Transcript:  1886
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,13)      total(C,13|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1305, None   



Context             (SEQ ID NO:10758):
GCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCA
R
GAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTT
Celera SNP ID:            hCV1482839
SNP Position Transcript:  1947
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;JBIC-allele(A,107|G,630)   total(G,630|A,107)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1305, None   



Context             (SEQ ID NO:10759):
GGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACC
R
CCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTC
Celera SNP ID:            hCV12006668
SNP Position Transcript:  592
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 116, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10760):
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGT
R
GGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTG
Celera SNP ID:            hCV707398
SNP Position Transcript:  604
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 120, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10761):
GGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTG
R
GGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGG
Celera SNP ID:            hCV707399
SNP Position Transcript:  631
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 129, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10762):
GGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGC
Y
TCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG
Celera SNP ID:            hCV27861030
SNP Position Transcript:  1225
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 327, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10763):
AGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAG
R
CAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCC
Celera SNP ID:            hCV27861031
SNP Position Transcript:  1247
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 334, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:10764):
GGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCC
Y
GTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGT
Celera SNP ID:            hCV27861032
SNP Position Transcript:  1417
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 391, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10765):
GCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCC
R
TGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG
Celera SNP ID:            hCV27861033
SNP Position Transcript:  1418
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 391, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10766):
GACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTG
K
CCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTC
Celera SNP ID:            hCV27861034
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 399, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:10767):
CCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGC
K
CTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCT
Celera SNP ID:            hCV25620570
SNP Position Transcript:  1788
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1305, 514, (A,GCG)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1305, 514, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:10768):
GAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGAC
Y
ATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCA
Celera SNP ID:            hCV27861035
SNP Position Transcript:  1552
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 436, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:10769):
GACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACG
K
CCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAAT
Celera SNP ID:            hCV12006700
SNP Position Transcript:  992
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 249, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10770):
GGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCAC
R
AGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGG
Celera SNP ID:            hCV707430
SNP Position Transcript:  1672
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 476, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10771):
TCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGA
W
CTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTG
Celera SNP ID:            hCV707431
SNP Position Transcript:  1679
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 478, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10772):
GGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCT
S
CATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTC
Celera SNP ID:            hCV707432
SNP Position Transcript:  1712
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 489, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:10773):
TGGCACCTGCCTTACTAACTCCTTAGTGCCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTT
Y
AGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCT
Celera SNP ID:            hCV26187921
SNP Position Transcript:  376
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 44, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:10774):
CGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACC
R
TGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGT
Celera SNP ID:            hCV27859443
SNP Position Transcript:  628
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 128, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10775):
GGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATC
R
GGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTT
Celera SNP ID:            hCV707433
SNP Position Transcript:  1717
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 491, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10776):
CTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTC
R
GCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGAC
Celera SNP ID:            hCV26187922
SNP Position Transcript:  473
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 76, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10777):
AAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCG
Y
AGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACC
Celera SNP ID:            hCV27859444
SNP Position Transcript:  641
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 132, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:10778):
AACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCC
R
GAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGG
Celera SNP ID:            hCV27859445
SNP Position Transcript:  914
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 223, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10779):
GGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCAC
R
GGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCT
Celera SNP ID:            hCV27859446
SNP Position Transcript:  1261
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 339, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10780):
CCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATC
M
TGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGT
Celera SNP ID:            hCV27859447
SNP Position Transcript:  1486
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 414, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10781):
CCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCG
S
CACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTC
Celera SNP ID:            hCV26187926
SNP Position Transcript:  587
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 114, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:10782):
CGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACC
R
TGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATC
Celera SNP ID:            hCV26187927
SNP Position Transcript:  758
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 171, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10783):
ACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACT
Y
GGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGAC
Celera SNP ID:            hCV26187928
SNP Position Transcript:  788
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1305, 181, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10784):
CTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACA
R
TGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCA
Celera SNP ID:            hCV1482840
SNP Position Transcript:  2254
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   JBIC-allele(A,526|G,967)   total(G,967|A,526)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1305, None   



Gene Number:                 237
Celera Gene:                 hCG38868 - 62000133104400
Celera Transcript:           hCT1955775 - 62000133104417
Public Transcript Accession: NM_000478
Celera Protein:              hCP1765705 - 197000069368305
Public Protein Accession:    NP_000469
Gene Symbol:                 ALPL
Protein Name:                alkaline phosphatase, liver/bone/kidney;AP-TNAP;HOPS;TNAP;TNSALP
Celera Genomic Axis:         GA_x5YUV32W3P1(4672994..4704067)
Chromosome:                  Chr1
OMIM number:                 171760
OMIM Information:            ALKALINE PHOSPHATASE, LIVER;ALPL


Transcript Sequence (SEQ ID NO:609):
TGCAGGGCGTGGTGGCTGCTCCCAGGGGCCCTCTTTGCCCCAAGATGGCCCTCCTGTCCCCCATCCTGGATGTGGTCCTCACGGTGGCCCTCAGCCTCCT
CCTCCTGGGGCTGATCCTGGGCCTCCTTTGTTTCTTCACTTGCCGCCTGGCCAGGCCGCTCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGC
GCAAGAGACACTGAAATATGYCCTGGAGCTTYAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGWTGGKTGTCTCCACA
GTGAYGGCTGCCCGCATCCTCAAGRGTCRGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGA
YGTACAACACCAATGCCCAGGTCCCTGACAGYGCCGGCACCGSCACCRCCTACCTGTGTRGGGTGAAGGCCARTGAGGGCACCRTGRGGGTAAGCGYAGC
CAMTGAGCRTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCRCTGGGCCAAGGACGCTGGGAAATCTGTGGKCATTGTGACCACC
ACGAGAGTGAACCRTGCCACCCCCAGCRCCRCCTACRCCCACTYGGCTGACYGGGACTGGTACTCAGACAACRRGATGCCCCCTGAGGCCTTGAGCCAGG
GCTRTAAGGACATCGCCTACCAGCTCATGCATRACWTCAGGGACATTGACGTGATCATGGKGGGTGGCYRGRAATACATGTACCCCAAGAATAAAACTGA
TGTGGRGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGKCTGGACGKCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGAYACAAGCACTCC
CACTTCATCTRGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTYTCTTCDAGCCAGGGKMCRTGCAGTACGAGCTGA
ACAGGAACAACGTGACGGWCCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAASGCYKCTTCTTGCTGGTGGAAGG
AGRCAGAATTGACCACRGGCACCATGAAGGAAAAGCCAAGCAGRCCCTGCATGAGGCGGTGGASATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACC
TCCTCGGAAGACACTCTGACCGTGGTCACTGYGGWCCATTCCCRCRTCTTCACATTTGGTGGATACACCCCCYRTGGCAACTCTATCTTTGGTCTGKCCC
CCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCMTGTATGGCARTGGGCCTGGCTACAAGGYGGTGGGCGGTGAACGAGAGAATGTCTCCAT
GGTGGACYATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCRGGGAGGACRTGGCCRTCTTCTCCAAGGGCCCC
ATGGCGCACCTGCTGCACRGCGTCCACRRGCAGAWCTACGTCCCCCACGTGATGGCGTATGCAGCCTSCWTCRGGGCCAACCTCGGCCACTGTGCTCCTG
CCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCKCTGGCCCTCTACCCCCTGAGCGYCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCAC
AAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCYCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACC
CARGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCC
CTTTGGCCAMCAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGAC
CCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCYTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCA
GGCCCTACARTGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCC
AAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGC
TCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACA
CAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACA

Protein Sequence    (SEQ ID NO:1306):
MFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAK
DAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDT
WKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEM
DRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHG
GEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLALALYPLSVLF


SNP Information

Context             (SEQ ID NO:10785):
TGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCG
Y
CCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCC
Celera SNP ID:            hCV25473085
SNP Position Transcript:  1667
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(C,5|T,29)   total(C,6|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 467, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:10786):
CCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGC
R
CCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCAT
Celera SNP ID:            hCV12006677
SNP Position Transcript:  628
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 121, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10787):
CCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCAC
R
TCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTA
Celera SNP ID:            hCV7476257
SNP Position Transcript:  1246
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 327, (I,ATC)   (V,GTC)      



Context             (SEQ ID NO:10788):
TACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCA
M
TGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACG
Celera SNP ID:            hCV707400
SNP Position Transcript:  503
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 79, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:10789):
ACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGC
R
TTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTG
Celera SNP ID:            hCV707401
SNP Position Transcript:  509
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 81, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10790):
CCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGAC
Y
GGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGT
Celera SNP ID:            hCV707406
SNP Position Transcript:  652
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 129, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10791):
GGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACG
R
GATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAA
Celera SNP ID:            hCV707408
SNP Position Transcript:  674
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 136, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10792):
AGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCT
R
TAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTG
Celera SNP ID:            hCV707409
SNP Position Transcript:  704
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 146, (Y,TAT)   (C,TGT)      



Context             (SEQ ID NO:10793):
AAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGG
R
GTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTC
Celera SNP ID:            hCV26187933
SNP Position Transcript:  806
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 180, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10794):
CGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTAC
R
CCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACAT
Celera SNP ID:            hCV27528476
SNP Position Transcript:  637
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 124, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10795):
GGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCC
R
CCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCA
Celera SNP ID:            hCV12006683
SNP Position Transcript:  631
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 122, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10796):
CTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGG
W
TGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGT
Celera SNP ID:            hCV27861011
SNP Position Transcript:  286
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 7, (M,ATG)   (L,TTG)      



Context             (SEQ ID NO:10797):
CGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGG
K
TGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCC
Celera SNP ID:            hCV27861012
SNP Position Transcript:  290
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 8, (G,GGT)   (V,GTT)      



Context             (SEQ ID NO:10798):
GAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGA
Y
GGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTAC
Celera SNP ID:            hCV27861013
SNP Position Transcript:  305
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 13, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10799):
GTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGA
Y
GTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCC
Celera SNP ID:            hCV27861014
SNP Position Transcript:  401
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 45, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:10800):
TGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGC
R
CTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGAC
Celera SNP ID:            hCV27861015
SNP Position Transcript:  557
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 97, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10801):
GGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGG
K
CATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAG
Celera SNP ID:            hCV27861016
SNP Position Transcript:  587
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 107, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10802):
CTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCAT
R
ACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGG
Celera SNP ID:            hCV27861017
SNP Position Transcript:  733
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 156, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:10803):
CGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAAC
W
TCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCAC
Celera SNP ID:            hCV27861018
SNP Position Transcript:  736
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 157, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10804):
TACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGG
K
GGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTT
Celera SNP ID:            hCV27861019
SNP Position Transcript:  761
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 165, (G,GGG)   (V,GTG)      



Context             (SEQ ID NO:10805):
GGGACATTGACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAG
K
CTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACC
Celera SNP ID:            hCV707411
SNP Position Transcript:  840
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 191, (R,AGG)   (S,AGT)      



Context             (SEQ ID NO:10806):
GAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGA
Y
ACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCA
Celera SNP ID:            hCV707412
SNP Position Transcript:  889
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,22)   caucasian(C,4|T,36)   total(C,16|T,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 208, (H,CAC)   (Y,TAC)   

SNP Source:               HGMD;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 208, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:10807):
ACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGG
W
CCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGG
Celera SNP ID:            hCV707418
SNP Position Transcript:  1019
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 251, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10808):
GCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGG
W
CCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACT
Celera SNP ID:            hCV27531239
SNP Position Transcript:  1235
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 323, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:10809):
AAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCA
R
TGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCT
Celera SNP ID:            hCV1482820
SNP Position Transcript:  473
SNP Source:               Celera
Population(Allele,Count): Caucasian(G,0|A,311)   Chinese(G,0|A,60)   Japanese(G,2|A,19)   African(G,0|A,98)   total(G,2|A,488)   no_pop(G,1|A,11)   total(G,1|A,11) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 69, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10810):
GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGA
S
ATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGAT
Celera SNP ID:            hCV26187947
SNP Position Transcript:  1164
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 299, (D,GAC)   (E,GAG)      



Context             (SEQ ID NO:10811):
AAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTG
Y
GGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTC
Celera SNP ID:            hCV26187948
SNP Position Transcript:  1232
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 322, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10812):
GCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACC
Y
TCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTC
Celera SNP ID:            hCV16174303
SNP Position Transcript:  2065
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,263|C,1238)   total(C,1238|T,263) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10813):
CAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGC
Y
GGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTG
Celera SNP ID:            hCV27861020
SNP Position Transcript:  769
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 168, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:10814):
CGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGG
R
AATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAA
Celera SNP ID:            hCV27861021
SNP Position Transcript:  772
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 169, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:10815):
GAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCT
R
GAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAAC
Celera SNP ID:            hCV27861022
SNP Position Transcript:  911
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 215, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10816):
CTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGT
Y
TCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAA
Celera SNP ID:            hCV27861023
SNP Position Transcript:  967
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 234, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10817):
GAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTC
D
AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCC
Celera SNP ID:            hCV27861024
SNP Position Transcript:  973
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)   no_pop(G,-|T,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 236, (K,AAG)   (E,GAG)      236, (E,GAG)   (X,TAG)      



Context             (SEQ ID NO:10818):
TCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAG
Y
GCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGG
Celera SNP ID:            hCV7476381
SNP Position Transcript:  432
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,3)   caucasian(C,36|T,4)   total(C,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1306, 55, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1306, 55, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:10819):
CCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGG
M
CATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTC
Celera SNP ID:            hCV27861025
SNP Position Transcript:  983
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 239, (D,GAC)   (A,GCC)      



Context             (SEQ ID NO:10820):
ACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGG
K
ACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTT
Celera SNP ID:            hCV27861026
SNP Position Transcript:  982
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 239, (D,GAC)   (Y,TAC)      



Context             (SEQ ID NO:10821):
GAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTCTCTTCGAGCCAGGGGAC
R
TGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTT
Celera SNP ID:            hCV27861027
SNP Position Transcript:  985
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 240, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10822):
AGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAA
S
GCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAT
Celera SNP ID:            hCV27861028
SNP Position Transcript:  1078
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 271, (R,CGC)   (G,GGC)      



Context             (SEQ ID NO:10823):
GACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCT
K
CTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGG
Celera SNP ID:            hCV27861029
SNP Position Transcript:  1082
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 272, (C,TGC)   (F,TTC)      



Context             (SEQ ID NO:10824):
GGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAG
R
CCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCA
Celera SNP ID:            hCV707421
SNP Position Transcript:  1144
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 293, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10825):
GCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCC
R
CGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTG
Celera SNP ID:            hCV707422
SNP Position Transcript:  1244
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 326, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:10826):
TGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAAC
R
AGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCCGGAA
Celera SNP ID:            hCV27528529
SNP Position Transcript:  673
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 136, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10827):
ACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCC
R
TCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCT
Celera SNP ID:            hCV25620569
SNP Position Transcript:  1483
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 406, (I,ATC)   (V,GTC)   



Context             (SEQ ID NO:10828):
ACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCA
R
TGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGC
Celera SNP ID:            hCV26187950
SNP Position Transcript:  1352
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 362, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10829):
CAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCAC
R
GCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCT
Celera SNP ID:            hCV707429
SNP Position Transcript:  1519
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 418, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:10830):
CCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGG
Y
GGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGG
Celera SNP ID:            hCV26187951
SNP Position Transcript:  1370
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 368, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:10831):
CGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGAC
R
TGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGC
Celera SNP ID:            hCV26187952
SNP Position Transcript:  1477
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 404, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10832):
GCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACG
R
GCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGC
Celera SNP ID:            hCV26187953
SNP Position Transcript:  1529
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 421, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:10833):
GGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGC
W
TCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCT
Celera SNP ID:            hCV26187954
SNP Position Transcript:  1570
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 435, (I,ATC)   (F,TTC)      



Context             (SEQ ID NO:10834):
GGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGC
R
GGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTG
Celera SNP ID:            hCV27528925
SNP Position Transcript:  1468
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 401, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10835):
GCCTCCTTTGTTTCTTCACTTGCCGCCTGGCCAGGCCGCTCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATG
Y
CCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTC
Celera SNP ID:            hCV707393
SNP Position Transcript:  221
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10836):
AAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCA
M
CAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCC
Celera SNP ID:            hCV7476314
SNP Position Transcript:  1910
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10837):
GGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAG
R
GTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCC
Celera SNP ID:            hCV12006665
SNP Position Transcript:  325
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 20, (S,AGT)   (G,GGT)      



Context             (SEQ ID NO:10838):
GCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCC
Y
CTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAGGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAA
Celera SNP ID:            hCV1482838
SNP Position Transcript:  1742
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,13)      total(C,13|T,2) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10839):
GCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCA
R
GAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTT
Celera SNP ID:            hCV1482839
SNP Position Transcript:  1803
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,6|G,8)      total(G,8|A,6) ;JBIC-allele(A,107|G,630)   total(G,630|A,107)no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10840):
GGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACC
R
CCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTC
Celera SNP ID:            hCV12006668
SNP Position Transcript:  448
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 61, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:10841):
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGT
R
GGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTG
Celera SNP ID:            hCV707398
SNP Position Transcript:  460
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 65, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10842):
GGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTG
R
GGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGG
Celera SNP ID:            hCV707399
SNP Position Transcript:  487
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 74, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10843):
GGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGC
Y
TCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG
Celera SNP ID:            hCV27861030
SNP Position Transcript:  1081
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 272, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:10844):
AGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAG
R
CAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCC
Celera SNP ID:            hCV27861031
SNP Position Transcript:  1103
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 279, (D,GAC)   (G,GGC)      



Context             (SEQ ID NO:10845):
GGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCC
Y
GTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGT
Celera SNP ID:            hCV27861032
SNP Position Transcript:  1273
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 336, (R,CGT)   (C,TGT)      



Context             (SEQ ID NO:10846):
GCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCC
R
TGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG
Celera SNP ID:            hCV27861033
SNP Position Transcript:  1274
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 336, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10847):
GACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTG
K
CCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTC
Celera SNP ID:            hCV27861034
SNP Position Transcript:  1297
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 344, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:10848):
CCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGC
K
CTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCT
Celera SNP ID:            hCV25620570
SNP Position Transcript:  1644
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,39|T,1)   total(G,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1306, 459, (A,GCG)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1306, 459, (A,GCG)   (A,GCT)      



Context             (SEQ ID NO:10849):
GAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGAC
Y
ATGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCA
Celera SNP ID:            hCV27861035
SNP Position Transcript:  1408
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 381, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:10850):
GACGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACG
K
CCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAAT
Celera SNP ID:            hCV12006700
SNP Position Transcript:  848
SNP Source:               HGMD
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 194, (G,GGC)   (V,GTC)      



Context             (SEQ ID NO:10851):
GGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCAC
R
AGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGG
Celera SNP ID:            hCV707430
SNP Position Transcript:  1528
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 421, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10852):
TCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGA
W
CTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTG
Celera SNP ID:            hCV707431
SNP Position Transcript:  1535
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 423, (N,AAC)   (I,ATC)      



Context             (SEQ ID NO:10853):
GGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCT
S
CATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTC
Celera SNP ID:            hCV707432
SNP Position Transcript:  1568
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 434, (S,TCC)   (C,TGC)      



Context             (SEQ ID NO:10854):
TTCTTCACTTGCCGCCTGGCCAGGCCGCTCAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTT
Y
AGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCT
Celera SNP ID:            hCV26187921
SNP Position Transcript:  232
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1306, None   



Context             (SEQ ID NO:10855):
CGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACC
R
TGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGT
Celera SNP ID:            hCV27859443
SNP Position Transcript:  484
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 73, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:10856):
GGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATC
R
GGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTT
Celera SNP ID:            hCV707433
SNP Position Transcript:  1573
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 436, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10857):
CTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTC
R
GCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGAC
Celera SNP ID:            hCV26187922
SNP Position Transcript:  329
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 21, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10858):
AAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCG
Y
AGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACC
Celera SNP ID:            hCV27859444
SNP Position Transcript:  497
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 77, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:10859):
AACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGATCATGGGGGGTGGCC
R
GAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGG
Celera SNP ID:            hCV27859445
SNP Position Transcript:  770
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 168, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10860):
GGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGAGGCAGAATTGACCAC
R
GGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCT
Celera SNP ID:            hCV27859446
SNP Position Transcript:  1117
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 284, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:10861):
CCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATC
M
TGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAGGCGCAGTCTGCTGT
Celera SNP ID:            hCV27859447
SNP Position Transcript:  1342
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 359, (M,ATG)   (L,CTG)      



Context             (SEQ ID NO:10862):
CCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGACGTACAACACCAATGCCCAGGTCCCTGACAGCGCCGGCACCG
S
CACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTC
Celera SNP ID:            hCV26187926
SNP Position Transcript:  443
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 59, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:10863):
CGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACC
R
TGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATC
Celera SNP ID:            hCV26187927
SNP Position Transcript:  614
SNP Source:               HGMD
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 116, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:10864):
ACCTCCATCCTGCGCTGGGCCAAGGACGCTGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACT
Y
GGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGAC
Celera SNP ID:            hCV26187928
SNP Position Transcript:  644
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1306, 126, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:10865):
CTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACA
R
TGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCA
Celera SNP ID:            hCV1482840
SNP Position Transcript:  2110
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,8)      total(G,1|A,8) ;no_pop(A,-|G,-)   JBIC-allele(A,526|G,967)   total(G,967|A,526)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1306, None   



Gene Number:                 238
Celera Gene:                 hCG38926 - 207000006919220
Celera Transcript:           hCT30172 - 207000006919221
Public Transcript Accession: 
Celera Protein:              hCP48800 - 207000006919216
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W3JR(13842098..13854190)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:610):
GATCAAGTGTAATCTRTGTTCTTTTTTATTTGGTCATATCTTCCATTCTTTCTTACCTAATTCCTCTAATATCTCTCTGTGAGCCTAAACCAATAATTAT
ATATTACATTCTATTGTCTTTCTTATATAACTGCAGAAAGATAAATATCACTTTGTTTGTTCCTGTAGGTTTTCTTTAGTGTAATCCATAGYAGTTATTG
CATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTRTAGRTAAC
TTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTGGAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAAGATTCTGA
AAGGTCTGAATCTCAGAATTAAGTCTGGAGAGACAGTCGCCTTGGTCGGTCTCAATGGCAGTGGGAAGAGTACGGTAGTCCAGCTTCTGCAGAGGTTATA
TGATCCGGATGATGGCTTTATCAYGGTGGATGAGAATGACATCAGAGCTTTAAATGTGCGGCATTATCGAGACCATATTGGAGTGGTTAGTCAAGAGCCT
GTTTTGTTCGGGACCACCATCAGTAACAATATCAAGTATGGACGAGATGATGTGACTGATGAAGAGATGGAGAGAGCAGCAAGGGAAGCAAATGCRTATG
ATTTTATCATGGAGTTTCCTAATAAATTTAATACATTGGTAGGGGAAAAAGGAGCTCAAATGAGTGGAGGGCAGAAACAGAGGATCGCAATTGCTCGTGC
CTTAGTTCGAAACCCCAAGATTCTGATTTTAGATGAGGCTACGTCTGCCCTGGATTCAGAAAGCRAGTCAGCTGTTCAAGCTGCACTGGAGAAGGATACC
CCCAGGTATTCATTTTGACCTAATTTCACCTCAAGTGGAGAATCGCTGACCTTGAACCAGCGCCCTTCGACAGCTCTGGCCCCTCAAACCTCACCCTGAC
CTCCTGCTGCCTATGAGCTACTGCACATACCTCAAGGCCATATGCAGTTGTGGCCCTGCACCAAATTACACTGAATCTAGGAGGGGAGTTGGCAGTGGCG
GTATGAAAAACCATTGAACAGTTTTCTCGATGGCCTGACTCCCTTATAAACCAGAGCCTTCAGACCCCTTACAAGGCTTAATGGCACATTTTACTTTGCA
TTTGCTTGGAAGTGAGTTAAGCGTTTTTTTTTCTCTAAGAAAATCGCAGGCTTCTTTTTTTAAAATGCTGACTTTATGGAACCAGAA

Protein Sequence    (SEQ ID NO:1307):
MVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKI
LILDEATSALDSESKSAVQAALEKDTPRYSF


SNP Information

Context             (SEQ ID NO:10866):
AATAATTATATATTACATTCTATTGTCTTTCTTATATAACTGCAGAAAGATAAATATCACTTTGTTTGTTCCTGTAGGTTTTCTTTAGTGTAATCCATAG
Y
AGTTATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTA
Celera SNP ID:            hCV16088765
SNP Position Transcript:  192
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,11)   caucasian(C,31|T,5)   total(C,50|T,16)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1307, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1307, None   



Context             (SEQ ID NO:10867):
TGGAGGGCAGAAACAGAGGATCGCAATTGCTCGTGCCTTAGTTCGAAACCCCAAGATTCTGATTTTAGATGAGGCTACGTCTGCCCTGGATTCAGAAAGC
R
AGTCAGCTGTTCAAGCTGCACTGGAGAAGGATACCCCCAGGTATTCATTTTGACCTAATTTCACCTCAAGTGGAGAATCGCTGACCTTGAACCAGCGCCC
Celera SNP ID:            hCV2544197
SNP Position Transcript:  865
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,15)   caucasian(A,24|G,14)   total(A,45|G,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1307, 115, (K,AAG)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1307, 115, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10868):
TATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTATAG
R
TAACTTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTGGAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAAGATT
Celera SNP ID:            hCV25621038
SNP Position Transcript:  296
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,32|G,2)   total(A,70|G,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1307, None



Context             (SEQ ID NO:10869):
CAGTTATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGT
R
TAGATAACTTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTGGAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAA
Celera SNP ID:            hCV25621039
SNP Position Transcript:  292
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1307, None



Context             (SEQ ID NO:10870):
AGCCTGTTTTGTTCGGGACCACCATCAGTAACAATATCAAGTATGGACGAGATGATGTGACTGATGAAGAGATGGAGAGAGCAGCAAGGGAAGCAAATGC
R
TATGATTTTATCATGGAGTTTCCTAATAAATTTAATACATTGGTAGGGGAAAAAGGAGCTCAAATGAGTGGAGGGCAGAAACAGAGGATCGCAATTGCTC
Celera SNP ID:            hCV25621024
SNP Position Transcript:  696
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,3|G,35)   total(A,4|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1307, 58, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10871):
TCTGGAGAGACAGTCGCCTTGGTCGGTCTCAATGGCAGTGGGAAGAGTACGGTAGTCCAGCTTCTGCAGAGGTTATATGATCCGGATGATGGCTTTATCA
Y
GGTGGATGAGAATGACATCAGAGCTTTAAATGTGCGGCATTATCGAGACCATATTGGAGTGGTTAGTCAAGAGCCTGTTTTGTTCGGGACCACCATCAGT
Celera SNP ID:            hCV25621025
SNP Position Transcript:  524
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,6|T,32)   total(C,8|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1307, 1, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:10872):
GATCAAGTGTAATCT
R
TGTTCTTTTTTATTTGGTCATATCTTCCATTCTTTCTTACCTAATTCCTCTAATATCTCTCTGTGAGCCTAAACCAATAATTATATATTACATTCTATTG
Celera SNP ID:            hCV25621050
SNP Position Transcript:  16
SNP Source:               Applera
Population(Allele,Count): african american(G,28)   caucasian(A,1|G,31)   total(A,1|G,59)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1307, None



Gene Number:                 238
Celera Gene:                 hCG38926 - 207000006919220
Celera Transcript:           hCT2343648 - 207000006919215
Public Transcript Accession: 
Celera Protein:              hCP1909053 - 207000006919213
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32W3JR(13842153..13854190)
Chromosome:                  Chr7
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:611):
CCTAATTCCTCTAATATCTCTCTGTTTTCTTTAGTGTAATCCATAGYAGTTATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCG
AGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTRTAGRTAACTTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTG
GAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAAGATTCTGAAAGGTCTGAATCTCAGAATTAAGTCTGGAGAGACAGTCGCCTTGG
TCGGTCTCAATGGCAGTGGGAAGAGTACGGTAGTCCAGCTTCTGCAGAGGTTATATGATCCGGATGATGGCTTTATCAYGGTGGATGAGAATGACATCAG
AGCTTTAAATGTGCGGCATTATCGAGACCATATTGGAGTGGTTAGTCAAGAGCCTGTTTTGTTCGGGACCACCATCAGTAACAATATCAAGTATGGACGA
GATGATGTGACTGATGAAGAGATGGAGAGAGCAGCAAGGGAAGCAAATGCRTATGATTTTATCATGGAGTTTCCTAATAAATTTAATACATTGGTAGGGG
AAAAAGGAGCTCAAATGAGTGGAGGGCAGAAACAGAGGATCGCAATTGCTCGTGCCTTAGTTCGAAACCCCAAGATTCTGATTTTAGATGAGGCTACGTC
TGCCCTGGATTCAGAAAGCRAGTCAGCTGTTCAAGCTGCACTGGAGAAGGATACCCCCAGGTATTCATTTTGACCTAATTTCACCTCAAGTGGAGAATCG
CTGACCTTGAACCAGCGCCCTTCGACAGCTCTGGCCCCTCAAACCTCACCCTGACCTCCTGCTGCCTATGAGCTACTGCACATACCTCAAGGCCATATGC
AGTTGTGGCCCTGCACCAAATTACACTGAATCTAGGAGGGGAGTTGGCAGTGGCGGTATGAAAAACCATTGAACAGTTTTCTCGATGGCCTGACTCCCTT
ATAAACCAGAGCCTTCAGACCCCTTACAAGGCTTAATGGCACATTTTACTTTGCATTTGCTTGGAAGTGAGTTAAGCGTTTTTTTTTCTCTAAGAAAATC
GCAGGCTTCTTTTTTTAAAATGCTGACTTTATGGAACCAGAA

Protein Sequence    (SEQ ID NO:1308):
MVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKI
LILDEATSALDSESKSAVQAALEKDTPRYSF


SNP Information

Context             (SEQ ID NO:10873):
CCTAATTCCTCTAATATCTCTCTGTTTTCTTTAGTGTAATCCATAG
Y
AGTTATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTA
Celera SNP ID:            hCV16088765
SNP Position Transcript:  47
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,11)   caucasian(C,31|T,5)   total(C,50|T,16)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1308, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,6)      total(C,6|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1308, None   



Context             (SEQ ID NO:10874):
TGGAGGGCAGAAACAGAGGATCGCAATTGCTCGTGCCTTAGTTCGAAACCCCAAGATTCTGATTTTAGATGAGGCTACGTCTGCCCTGGATTCAGAAAGC
R
AGTCAGCTGTTCAAGCTGCACTGGAGAAGGATACCCCCAGGTATTCATTTTGACCTAATTTCACCTCAAGTGGAGAATCGCTGACCTTGAACCAGCGCCC
Celera SNP ID:            hCV2544197
SNP Position Transcript:  720
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,15)   caucasian(A,24|G,14)   total(A,45|G,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1308, 115, (K,AAG)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,4)      total(G,3|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1308, 115, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:10875):
TATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGTATAG
R
TAACTTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTGGAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAAGATT
Celera SNP ID:            hCV25621038
SNP Position Transcript:  151
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,32|G,2)   total(A,70|G,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1308, None



Context             (SEQ ID NO:10876):
CAGTTATTGCATTGGAGCAGCAGTCCCTCACTTTGAAACCTTCGCAATAGCCCGAGGAGCTGCCTTTCATATTTTCCAGGTTATTGATAAGAAACCCAGT
R
TAGATAACTTTTCCACAGCTGGATATAAACCTGAATCCATAGAAGGAACTGTGGAATTTAAAAATGTTTCTTTCAATTATCCATCAAGACCATCTATCAA
Celera SNP ID:            hCV25621039
SNP Position Transcript:  147
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1308, None



Context             (SEQ ID NO:10877):
AGCCTGTTTTGTTCGGGACCACCATCAGTAACAATATCAAGTATGGACGAGATGATGTGACTGATGAAGAGATGGAGAGAGCAGCAAGGGAAGCAAATGC
R
TATGATTTTATCATGGAGTTTCCTAATAAATTTAATACATTGGTAGGGGAAAAAGGAGCTCAAATGAGTGGAGGGCAGAAACAGAGGATCGCAATTGCTC
Celera SNP ID:            hCV25621024
SNP Position Transcript:  551
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,3|G,35)   total(A,4|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1308, 58, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:10878):
TCTGGAGAGACAGTCGCCTTGGTCGGTCTCAATGGCAGTGGGAAGAGTACGGTAGTCCAGCTTCTGCAGAGGTTATATGATCCGGATGATGGCTTTATCA
Y
GGTGGATGAGAATGACATCAGAGCTTTAAATGTGCGGCATTATCGAGACCATATTGGAGTGGTTAGTCAAGAGCCTGTTTTGTTCGGGACCACCATCAGT
Celera SNP ID:            hCV25621025
SNP Position Transcript:  379
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,36)   caucasian(C,6|T,32)   total(C,8|T,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1308, 1, (T,ACG)   (M,ATG)   



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT1969318 - 119000107835705
Public Transcript Accession: NM_001569
Celera Protein:              hCP1782904 - 197000069432103
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1323982..1333674)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:612):
CCGCCCAGGAGCTTTCGGMAGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTC
CTCCAGAGCCCCGCCCGGGCGAGCCCGGGAGGCCGATCGCCGCTCGCGGAACCCGCCGGGACCCGGGCCCTCCCCGGCGCGGGGCGCCCCCGTGTGACCC
AGCGCGCGGCCGCGGCGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCA
GTGTCCGCGGACCCGGCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGG
GCCCGGGGGAGCCCGCAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCC
CGCCGACTGGTGCCAGTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCC
TGGATCAACCGCAACGCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCG
CCCCGCTTCCGTCCCCAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGC
CTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCA
TCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTT
CCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAA
GAGGCTGAAGGAGAACGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTG
GACTTTGCTGGCTACTGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGG
CCTGCCCACCTCTCTCCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGGCAATTCAGTTTCTACATCAGGACAGCCCCAGCCTCATCCATGG
AGACATCAAGAGTTCCAACGTCCTTCTGGATGAGAGGCTGACACCCAAGCTGGGAGACTTTGGCCTGGCCCGGTTCAGCCGCTTTGCCGGGTCCAGCCCC
AGCCAGAGCAGCATGGTGGCCCGGACACAGACAGTGCGGGGCACCCTGGCCTACCTGCCCGAGGAGTACATCAAGACGGGAAGGCTGGCTGTGGACACGG
ACACCTTCAGCTTTGGGGTGGTAGTGCTAGAGACCTTGGCTGGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGGTGTACGAGAGGCT
AGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATTYGGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACT
GGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCCRTCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGC
CCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCTCCTGGCACTTGACTCCAAGCTGCCCTCTGGACCCAGCACCCCTCAGGGAGGC
CGGCTGTCCTCAGGGGGACACGGCAGGAGAATCGAGCTGGGGGAGTGGCCCAGGATCCCGGCCCACAGCCGTGGAAGGACTGGCCCTTGGCAGCTCTGCA
TCATCGTCGTCAGAGCCACCGCAGATTATCATCAACCCTGCCCGACAGAAGATGGTCCAGAAGCTGGCCCTGTACGAGGATGGGGCCCTGGACAGCCTGC
AGCTGCTGTCGTCCAGCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGG
CAGATCCCCCAAATCYGGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGC
CCGCGGGGGAGAGAAGGAGGTGGCCCTRCTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGA
AGGCTGGCATCATCCAGTGAGGAGGCTGGCGCATGTTGGGAGGCTGCTGGCTGCACAGACCCGTGAGGGGAGGAGAGGGGCTGCTGTGCAGGGGTGTGGA
GTAGGGAGCTGGCTCCCCTGAGAGCCATGCAGGGCGTCTGCAGCCCAGGCCTCTGGCAGCAGCTCTTTGCCCATCTCTTTGGACAGTGGCCACCCTGCAC
AATGGGGCCGACGAGGCCTAGGGCCCTCCTACCTGCTTACAATTTGGAAAAGTGTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG
GCCAAGGCAGGAGGATCGCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCT
GGCGTGGTAGCGCACGCYTGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTA
TGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGGYTGTAAGTCTCATGGTTCAGTCCTA
GCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGG
CCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGCRCCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAG
GCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAGCTAGGCCCAAGACCTAGTTACCCAGACAGTGAGAAGCCCCTGGAAGGCAGAAAAGTTGGGA
GCATGGCAGACAGGGAAGGGAAACATTTTCAGGGAAAAGACATGTATCACATGTCTTCAGAAGCAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGT
GTCCAAAAGTAGCCCAGGGCTGTAGCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAGTCACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACG
TCCAGGTTGTCCTTGAGTAATAAAAACGTATGTTGCAATC

Protein Sequence    (SEQ ID NO:1309):
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIIT
AWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCW
PLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGR
LAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLVYERLEKLQAVVAGVPGHSEAASCIPPSPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQ
RGPNQPVESDESLGGLSAALRSWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLALYEDG
ALDSLQLLSSSSLPGLGLEQDRQGPEESDEFQS


SNP Information

Context             (SEQ ID NO:10879):
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
Y
GGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAG
Celera SNP ID:            hCV15765460
SNP Position Transcript:  2316
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10880):
CCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCC
R
TCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCT
Celera SNP ID:            hCV15765437
SNP Position Transcript:  1848
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1309, 488, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:10881):
TTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCT
R
CTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTG
Celera SNP ID:            hCV15765461
SNP Position Transcript:  2428
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10882):
CCGCCCAGGAGCTTTCGG
M
AGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTCCTCCAGAGCCCCGCCCGGG
Celera SNP ID:            hCV29369119
SNP Position Transcript:  19
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10883):
GCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGC
R
CCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAG
Celera SNP ID:            hCV15765471
SNP Position Transcript:  3239
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10884):
GAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGG
Y
TGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGG
Celera SNP ID:            hCV8966372
SNP Position Transcript:  3076
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10885):
GCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGC
Y
TGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTG
Celera SNP ID:            hCV27158713
SNP Position Transcript:  2918
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1309, None   



Context             (SEQ ID NO:10886):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  867
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1309, 161, (V,GTC)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1309, 161, (V,GTT)   (V,GTC)      161, (V,GTC)   (V,GTT)      



Context             (SEQ ID NO:10887):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  971
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1309, 196, (F,TTT)   (S,TCT)      196, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10888):
GGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATT
Y
GGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCA
Celera SNP ID:            hCV8966368
SNP Position Transcript:  1742
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,14)   caucasian(T,4)   total(C,10|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1309, 453, (S,TCG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,3|T,33)   total(C,9|T,65)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1309, 453, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1309, 453, (L,TTG)   (S,TCG)      453, (S,TCG)   (L,TTG)      



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT2291401 - 119000107835792
Public Transcript Accession: NM_001569
Celera Protein:              hCP1888843 - 197000069432107
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1324197..1333670)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:613):
CGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCAGTGTCCGCGGACCCG
GCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGGGCCCGGGGGAGCCCG
CAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCCCGCCGACTGGTGCCA
GTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCCTGGATCAACCGCAAC
GCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCGCCCCGCTTCCGTCCC
CAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTC
CCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCT
TCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACA
ACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAAGAGGCTGAAGGAGAA
CGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTGGACTTTGCTGGCTAC
TGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGGCCTGCCCACCTCTCT
CCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGGCAATTCAGTTTCTACATCAGGACAGCCCCAGCCTCATCCATGGAGACATCAAGAGTTC
CAACGTCCTTCTGGATGAGAGGCTGACACCCAAGCTGGGAGACTTTGGCCTGGCCCGGTTCAGCCGCTTTGCCGGGTCCAGCCCCAGCCAGAGCAGCATG
GTGGCCCGGACACAGACAGTGCGGGGCACCCTGGCCTACCTGCCCGAGGAGTACATCAAGACGGGAAGGCTGGCTGTGGACACGGACACCTTCAGCTTTG
GGGTGGTAGTGCTAGAGACCTTGGCTGGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGAAAGACCTGGTGGAAGAGGAGGCTGAGGA
GGCTGGAGTGGCTTTGAGAAGCACCCAGAGCACACTGCAAGCAGGTCTGGCTGCAGATGCCTGGGCTGCTCCCATCGCCATGCAGATCTACAAGAAGCAC
CTGGACCCCAGGCCCGGGCCCTGCCCACCTGAGCTGGGCCTGGGCCTGGGCCAGCTGGCCTGCTGCTGCCTGCACCGCCGGGCCAAAAGGAGGCCTCCTA
TGACCCAGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATTYGGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGA
GAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCCRTCAGGAGCCAGTGCCCAGGCAGCAGAGCAG
CTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCTCCTGGCACTTGACTCCAAGCTGCCCTCTGG
ACCCAGCACCCCTCAGGGAGGCCGGCTGTCCTCAGGGGGACACGGCAGGAGAATCGAGCTGGGGGAGTGGCCCAGGATCCCGGCCCACAGCCGTGGAAGG
ACTGGCCCTTGGCAGCTCTGCATCATCGTCGTCAGAGCCACCGCAGATTATCATCAACCCTGCCCGACAGAAGATGGTCCAGAAGCTGGCCCTGTACGAG
GATGGGGCCCTGGACAGCCTGCAGCTGCTGTCGTCCAGCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTC
AGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATCYGGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGG
CAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCTRCTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCA
TGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTGGCGCATGTTGGGAGGCTGCTGGCTGCACAGACCCGTGAGGGGAGGAGAGG
GGCTGCTGTGCAGGGGTGTGGAGTAGGGAGCTGGCTCCCCTGAGAGCCATGCAGGGCGTCTGCAGCCCAGGCCTCTGGCAGCAGCTCTTTGCCCATCTCT
TTGGACAGTGGCCACCCTGCACAATGGGGCCGACGAGGCCTAGGGCCCTCCTACCTGCTTACAATTTGGAAAAGTGTGGCCGGGTGCGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAA
AAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGCYTGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAG
GCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGGYTG
TAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCT
TTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGCRCCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCC
ACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAGCTAGGCCCAAGACCTAGTTACCCAGACAGGAAGGGAAAC
ATTTTCAGGGAAAAGACATGTATCACATGTCTTCAGAAGCAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGTGTCCAAAAGTAGCCCAGGGCTGTA
GCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAGTCACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACGTCCAGGTTGTCCTTGAGTAATAAA
AACGTATGTTGC

Protein Sequence    (SEQ ID NO:1310):
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIIT
AWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCW
PLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGR
LAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLKDLVEEEAEEAGVALRSTQSTLQAGLAADAWAAPIAMQIYKKHLDPRPGPCPPELGLGLGQLACCC
LHRRAKRRPPMTQVYERLEKLQAVVAGVPGHSEAASCIPPSPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQRGPNQPVESDESLGGLSAALR
SWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLALYEDGALDSLQLLSSSSLPGLGLEQD
RQGPEESDEFQS


SNP Information

Context             (SEQ ID NO:10889):
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
Y
GGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAG
Celera SNP ID:            hCV15765460
SNP Position Transcript:  2338
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None   



Context             (SEQ ID NO:10890):
CCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCC
R
TCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCT
Celera SNP ID:            hCV15765437
SNP Position Transcript:  1870
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1310, 567, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:10891):
TTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCT
R
CTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTG
Celera SNP ID:            hCV15765461
SNP Position Transcript:  2450
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None   



Context             (SEQ ID NO:10892):
GCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGC
R
CCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAG
Celera SNP ID:            hCV15765471
SNP Position Transcript:  3261
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None   



Context             (SEQ ID NO:10893):
GAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGG
Y
TGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGG
Celera SNP ID:            hCV8966372
SNP Position Transcript:  3098
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None   



Context             (SEQ ID NO:10894):
GCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGC
Y
TGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTG
Celera SNP ID:            hCV27158713
SNP Position Transcript:  2940
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1310, None   



Context             (SEQ ID NO:10895):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1310, 161, (V,GTC)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1310, 161, (V,GTT)   (V,GTC)      161, (V,GTC)   (V,GTT)      



Context             (SEQ ID NO:10896):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  756
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1310, 196, (F,TTT)   (S,TCT)      196, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10897):
TGCTGCCTGCACCGCCGGGCCAAAAGGAGGCCTCCTATGACCCAGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATT
Y
GGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCA
Celera SNP ID:            hCV8966368
SNP Position Transcript:  1764
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,14)   caucasian(T,4)   total(C,10|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1310, 532, (S,TCG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,3|T,33)   total(C,9|T,65)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1310, 532, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1310, 532, (L,TTG)   (S,TCG)      532, (S,TCG)   (L,TTG)      



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT2291402 - 119000107835842
Public Transcript Accession: NM_001569
Celera Protein:              hCP1888846 - 197000069432110
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1324197..1333670)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:614):
CGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCAGTGTCCGCGGACCCG
GCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGGGCCCGGGGGAGCCCG
CAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCCCGCCGACTGGTGCCA
GTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCCTGGATCAACCGCAAC
GCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCGCCCCGCTTCCGTCCC
CAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTC
CCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCT
TCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACA
ACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAAGAGGCTGAAGGAGAA
CGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTGGACTTTGCTGGCTAC
TGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGGCCTGCCCACCTCTCT
CCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGGCAATTCAGTTTCTACATCAGGACAGCCCCAGCCTCATCCATGGAGACATCAAGAGTTC
CAACGTCCTTCTGGATGAGAGGCTGACACCCAAGCTGGGAGACTTTGGCCTGGCCCGGTTCAGCCGCTTTGCCGGGTCCAGCCCCAGCCAGAGCAGCATG
GTGGCCCGGACACAGACAGTGCGGGGCACCCTGGCCTACCTGCCCGAGGAGTACATCAAGACGGGAAGGCTGGCTGTGGACACGGACACCTTCAGCTTTG
GGGTGGTAGTGCTAGAGACCTTGGCTGGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGGTGTACGAGAGGCTAGAGAAGCTGCAGGC
AGTGGTGGCGGGGGTGCCCGGGCATTYGGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGT
GGGGCTGCTCCATGGCAGCCCCTGGCAGCGCCRTCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACG
AGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCTCCTGGCACTTGACTCCAAGCTGCCCTCTGGACCCAGCACCCCTCAGGGAGGCCGGCTGTCCTCAGGG
GGACACGGCAGGAGAATCGAGCTGGGGGAGTGGCCCAGGATCCCGGCCCACAGCCGTGGAAGGACTGGCCCTTGGCAGCTCTGCATCATCGTCGTCAGAG
CCACCGCAGATTATCATCAACCCTGCCCGACAGAAGATGGTCCAGAAGCTGGCCCTGTACGAGGATGGGGCCCTGGACAGCCTGCAGCTGCTGTCGTCCA
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
YGGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAA
GGAGGTGGCCCTRCTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCC
AGTGAGGAGGCTGGCGCATGTTGGGAGGCTGCTGGCTGCACAGACCCGTGAGGGGAGGAGAGGGGCTGCTGTGCAGGGGTGTGGAGTAGGGAGCTGGCTC
CCCTGAGAGCCATGCAGGGCGTCTGCAGCCCAGGCCTCTGGCAGCAGCTCTTTGCCCATCTCTTTGGACAGTGGCCACCCTGCACAATGGGGCCGACGAG
GCCTAGGGCCCTCCTACCTGCTTACAATTTGGAAAAGTGTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGA
TCGCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCAC
GCYTGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGC
CTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGGYTGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAAT
TCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCC
TGCAAGCCAGGCCATCCCTGGGCRCCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCA
GAGGGGCCACTACCCAAGGTCTAGCTAGGCCCAAGACCTAGTTACCCAGACAGGAAGGGAAACATTTTCAGGGAAAAGACATGTATCACATGTCTTCAGA
AGCAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGTGTCCAAAAGTAGCCCAGGGCTGTAGCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAG
TCACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACGTCCAGGTTGTCCTTGAGTAATAAAAACGTATGTTGC

Protein Sequence    (SEQ ID NO:1311):
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIIT
AWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCW
PLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGR
LAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLVYERLEKLQAVVAGVPGHSEAASCIPPSPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQ
RGPNQPVESDESLGGLSAALRSWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLALYEDG
ALDSLQLLSSSSLPGLGLEQDRQGPEESDEFQS


SNP Information

Context             (SEQ ID NO:10898):
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
Y
GGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAG
Celera SNP ID:            hCV15765460
SNP Position Transcript:  2101
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None   



Context             (SEQ ID NO:10899):
CCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCC
R
TCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCT
Celera SNP ID:            hCV15765437
SNP Position Transcript:  1633
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1311, 488, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:10900):
TTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCT
R
CTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTG
Celera SNP ID:            hCV15765461
SNP Position Transcript:  2213
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None   



Context             (SEQ ID NO:10901):
GCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGC
R
CCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAG
Celera SNP ID:            hCV15765471
SNP Position Transcript:  3024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None   



Context             (SEQ ID NO:10902):
GAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGG
Y
TGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGG
Celera SNP ID:            hCV8966372
SNP Position Transcript:  2861
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None   



Context             (SEQ ID NO:10903):
GCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGC
Y
TGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTG
Celera SNP ID:            hCV27158713
SNP Position Transcript:  2703
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1311, None   



Context             (SEQ ID NO:10904):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1311, 161, (V,GTC)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1311, 161, (V,GTT)   (V,GTC)      161, (V,GTC)   (V,GTT)      



Context             (SEQ ID NO:10905):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  756
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1311, 196, (F,TTT)   (S,TCT)      196, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10906):
GGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATT
Y
GGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCA
Celera SNP ID:            hCV8966368
SNP Position Transcript:  1527
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,14)   caucasian(T,4)   total(C,10|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1311, 453, (S,TCG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,3|T,33)   total(C,9|T,65)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1311, 453, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1311, 453, (L,TTG)   (S,TCG)      453, (S,TCG)   (L,TTG)      



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT1969319 - 119000107835722
Public Transcript Accession: NM_001569
Celera Protein:              hCP1782905 - 197000069432101
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1323982..1333669)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:615):
CCGCCCAGGAGCTTTCGGMAGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTC
CTCCAGAGCCCCGCCCGGGCGAGCCCGGGAGGCCGATCGCCGCTCGCGGAACCCGCCGGGACCCGGGCCCTCCCCGGCGCGGGGCGCCCCCGTGTGACCC
AGCGCGCGGCCGCGGCGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCA
GTGTCCGCGGACCCGGCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGG
GCCCGGGGGAGCCCGCAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCC
CGCCGACTGGTGCCAGTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCC
TGGATCAACCGCAACGCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCG
CCCCGCTTCCGTCCCCAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGC
CTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCA
TCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTT
CCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAA
GAGGCTGAAGGAGAACGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTG
GACTTTGCTGGCTACTGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGG
CCTGCCCACCTCTCTCCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGCAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGTGTCCAAA
AGTAGCCCAGGGCTGTAGCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAGTCACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACGTCCAGGT
TGTCCTTGAGTAATAAAAACGTATGTTG

Protein Sequence    (SEQ ID NO:1312):
PPRSFRKARPRPLSEQPGPPPCPLSPTPGAAVRPPEPRPGEPGRPIAARGTRRDPGPPRRGAPPCDPARGRGAQDGGGPGHRPFRPAGRRTRPARRGSES
VSADPAGPGPRPPRP


SNP Information

Context             (SEQ ID NO:10907):
CCGCCCAGGAGCTTTCGG
M
AGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTCCTCCAGAGCCCCGCCCGGG
Celera SNP ID:            hCV29369119
SNP Position Transcript:  19
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1312, 7, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:10908):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  867
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1312, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1312, None   



Context             (SEQ ID NO:10909):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  971
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1312, None   



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT30463 - 119000107835620
Public Transcript Accession: NM_001569
Celera Protein:              hCP49138 - 197000069432102
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1323982..1333674)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:616):
CCGCCCAGGAGCTTTCGGMAGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTC
CTCCAGAGCCCCGCCCGGGCGAGCCCGGGAGGCCGATCGCCGCTCGCGGAACCCGCCGGGACCCGGGCCCTCCCCGGCGCGGGGCGCCCCCGTGTGACCC
AGCGCGCGGCCGCGGCGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCA
GTGTCCGCGGACCCGGCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGG
GCCCGGGGGAGCCCGCAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCC
CGCCGACTGGTGCCAGTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCC
TGGATCAACCGCAACGCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCG
CCCCGCTTCCGTCCCCAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGC
CTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCA
TCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTT
CCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAA
GAGGCTGAAGGAGAACGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTG
GACTTTGCTGGCTACTGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGG
CCTGCCCACCTCTCTCCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGGCAATTCAGTTTCTACATCAGGACAGCCCCAGCCTCATCCATGG
AGACATCAAGAGTTCCAACGTCCTTCTGGATGAGAGGCTGACACCCAAGCTGGGAGACTTTGGCCTGGCCCGGTTCAGCCGCTTTGCCGGGTCCAGCCCC
AGCCAGAGCAGCATGGTGGCCCGGACACAGACAGTGCGGGGCACCCTGGCCTACCTGCCCGAGGAGTACATCAAGACGGGAAGGCTGGCTGTGGACACGG
ACACCTTCAGCTTTGGGGTGGTAGTGCTAGAGACCTTGGCTGGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGAAAGACCTGGTGGA
AGAGGAGGCTGAGGAGGCTGGAGTGGCTTTGAGAAGCACCCAGAGCACACTGCAAGCAGGTCTGGCTGCAGATGCCTGGGCTGCTCCCATCGCCATGCAG
ATCTACAAGAAGCACCTGGACCCCAGGCCCGGGCCCTGCCCACCTGAGCTGGGCCTGGGCCTGGGCCAGCTGGCCTGCTGCTGCCTGCACCGCCGGGCCA
AAAGGAGGCCTCCTATGACCCAGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATTYGGAGGCCGCCAGCTGCATCCC
CCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCCRTCAGGAGCCAGTGCC
CAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCTCCTGGCACTTGACTC
CAAGCTGCCCTCTGGACCCAGCACCCCTCAGGGAGGCCGGCTGTCCTCAGGGGGACACGGCAGGAGAATCGAGCTGGGGGAGTGGCCCAGGATCCCGGCC
CACAGCCGTGGAAGGACTGGCCCTTGGCAGCTCTGCATCATCGTCGTCAGAGCCACCGCAGATTATCATCAACCCTGCCCGACAGAAGATGGTCCAGAAG
CTGGCCCTGTACGAGGATGGGGCCCTGGACAGCCTGCAGCTGCTGTCGTCCAGCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAG
AAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATCYGGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCC
TCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCTRCTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGT
GGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTGGCGCATGTTGGGAGGCTGCTGGCTGCACAGACCCG
TGAGGGGAGGAGAGGGGCTGCTGTGCAGGGGTGTGGAGTAGGGAGCTGGCTCCCCTGAGAGCCATGCAGGGCGTCTGCAGCCCAGGCCTCTGGCAGCAGC
TCTTTGCCCATCTCTTTGGACAGTGGCCACCCTGCACAATGGGGCCGACGAGGCCTAGGGCCCTCCTACCTGCTTACAATTTGGAAAAGTGTGGCCGGGT
GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGAC
CCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGCYTGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTAT
GCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAA
AGTGAAGTATGGYTGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGC
CAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGCRCCACAGACGAGCTCCGAGCCAGGT
CAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAGCTAGGCCCAAGACCTAGTTACCCA
GACAGTGAGAAGCCCCTGGAAGGCAGAAAAGTTGGGAGCATGGCAGACAGGGAAGGGAAACATTTTCAGGGAAAAGACATGTATCACATGTCTTCAGAAG
CAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGTGTCCAAAAGTAGCCCAGGGCTGTAGCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAGTC
ACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACGTCCAGGTTGTCCTTGAGTAATAAAAACGTATGTTGCAATC

Protein Sequence    (SEQ ID NO:1313):
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIIT
AWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCW
PLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGR
LAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLKDLVEEEAEEAGVALRSTQSTLQAGLAADAWAAPIAMQIYKKHLDPRPGPCPPELGLGLGQLACCC
LHRRAKRRPPMTQVYERLEKLQAVVAGVPGHSEAASCIPPSPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQRGPNQPVESDESLGGLSAALR
SWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLALYEDGALDSLQLLSSSSLPGLGLEQD
RQGPEESDEFQS


SNP Information

Context             (SEQ ID NO:10910):
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
Y
GGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAG
Celera SNP ID:            hCV15765460
SNP Position Transcript:  2553
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10911):
CCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCC
R
TCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCT
Celera SNP ID:            hCV15765437
SNP Position Transcript:  2085
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1313, 567, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:10912):
TTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCT
R
CTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTG
Celera SNP ID:            hCV15765461
SNP Position Transcript:  2665
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10913):
CCGCCCAGGAGCTTTCGG
M
AGGCCCGGCCCCGGCCCCTTTCCGAGCAGCCCGGGCCTCCGCCCTGCCCTCTGTCCCCAACGCCGGGAGCCGCCGTTCGTCCTCCAGAGCCCCGCCCGGG
Celera SNP ID:            hCV29369119
SNP Position Transcript:  19
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10914):
GCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGC
R
CCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAG
Celera SNP ID:            hCV15765471
SNP Position Transcript:  3476
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10915):
GAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGG
Y
TGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGG
Celera SNP ID:            hCV8966372
SNP Position Transcript:  3313
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10916):
GCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGC
Y
TGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTG
Celera SNP ID:            hCV27158713
SNP Position Transcript:  3155
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1313, None   



Context             (SEQ ID NO:10917):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  867
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1313, 161, (V,GTC)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1313, 161, (V,GTT)   (V,GTC)      161, (V,GTC)   (V,GTT)      



Context             (SEQ ID NO:10918):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  971
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1313, 196, (F,TTT)   (S,TCT)      196, (S,TCT)   (F,TTT)      



Context             (SEQ ID NO:10919):
TGCTGCCTGCACCGCCGGGCCAAAAGGAGGCCTCCTATGACCCAGGTGTACGAGAGGCTAGAGAAGCTGCAGGCAGTGGTGGCGGGGGTGCCCGGGCATT
Y
GGAGGCCGCCAGCTGCATCCCCCCTTCCCCGCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCA
Celera SNP ID:            hCV8966368
SNP Position Transcript:  1979
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,14)   caucasian(T,4)   total(C,10|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1313, 532, (S,TCG)   (L,TTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,32)   caucasian(C,3|T,33)   total(C,9|T,65)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1313, 532, (S,TCG)   (L,TTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1313, 532, (L,TTG)   (S,TCG)      532, (S,TCG)   (L,TTG)      



Gene Number:                 239
Celera Gene:                 hCG39214 - 119000107835619
Celera Transcript:           hCT2291404 - 119000107835773
Public Transcript Accession: NM_001569
Celera Protein:              hCP1888842 - 197000069432106
Public Protein Accession:    NP_001560
Gene Symbol:                 IRAK1
Protein Name:                interleukin-1 receptor-associated kinase 1;IRAK;pelle
Celera Genomic Axis:         GA_x5YUV32VY5K(1324197..1333670)
Chromosome:                  ChrX
OMIM number:                 300283
OMIM Information:            INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1;IRAK1


Transcript Sequence (SEQ ID NO:617):
CGCGCAAGATGGCGGCGGGCCCGGGCACCGCCCCTTCCGCCCCGCCGGGCGTCGCACGAGGCCGGCTCGAAGGGGAAGTGAGTCAGTGTCCGCGGACCCG
GCCGGCCCAGGCCCGCGCCCGCCGCGGCCCTGAGAGGCCCCGGCAGGTCCCGGCCCGGCGGCGGCAGCCATGGCCGGGGGGCCGGGCCCGGGGGAGCCCG
CAGCCCCCGGCGCCCAGCACTTCTTGTACGAGGTGCCGCCCTGGGTCATGTGCCGCTTCTACAAAGTGATGGACGCCCTGGAGCCCGCCGACTGGTGCCA
GTTCGCCGCCCTGATCGTGCGCGACCAGACCGAGCTGCGGCTGTGCGAGCGCTCCGGGCAGCGCACGGCCAGCGTCCTGTGGCCCTGGATCAACCGCAAC
GCCCGTGTGGCCGACCTCGTGCACATCCTCACGCACCTGCAGCTGCTCCGTGCGCGGGACATCATCACAGCCTGGCACCCTCCCGCCCCGCTTCCGTCCC
CAGGCACCACTGCCCCGAGGCCCAGCAGCATCCCTGCACCCGCCGAGGCCGAGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTC
CCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGTYCCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCT
TCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCTYTCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACA
ACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCGGTGATGAGGAACACGGTGTATGCTGTGAAGAGGCTGAAGGAGAA
CGCTGACCTGGAGTGGACTGCAGTGAAGCAGAGCTTCCTGACCGAGGTGGAGCAGCTGTCCAGGTTTCGTCACCCAAACATTGTGGACTTTGCTGGCTAC
TGTGCTCAGAACGGCTTCTACTGCCTGGTGTACGGCTTCCTGCCCAACGGCTCCCTGGAGGACCGTCTCCACTGCCAGACCCAGGCCTGCCCACCTCTCT
CCTGGCCTCAGCGACTGGACATCCTTCTGGGTACAGCCCGGGCAATTCAGTTTCTACATCAGGACAGCCCCAGCCTCATCCATGGAGACATCAAGAGTTC
CAACGTCCTTCTGGATGAGAGGCTGACACCCAAGCTGGGAGACTTTGGCCTGGCCCGGTTCAGCCGCTTTGCCGGGTCCAGCCCCAGCCAGAGCAGCATG
GTGGCCCGGACACAGACAGTGCGGGGCACCCTGGCCTACCTGCCCGAGGAGTACATCAAGACGGGAAGGCTGGCTGTGGACACGGACACCTTCAGCTTTG
GGGTGGTAGTGCTAGAGACCTTGGCTGGTCAGAGGGCTGTGAAGACGCACGGTGCCAGGACCAAGTATCTGAAAGACCTGGTGGAAGAGGAGGCTGAGGA
GGCTGGAGTGGCTTTGAGAAGCACCCAGAGCACACTGCAAGCAGGTCTGGCTGCAGATGCCTGGGCTGCTCCCATCGCCATGCAGATCTACAAGAAGCAC
CTGGACCCCAGGCCCGGGCCCTGCCCACCTGAGCTGGGCCTGGGCCTGGGCCAGCTGGCCTGCTGCTGCCTGCACCGCCGGGCCAAAAGGAGGCCTCCTA
TGACCCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCCRTCAGGAGCCAGTGCCCAGGC
AGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCTCCTGGCACTTGACTCCAAGC
TGCCCTCTGGACCCAGCACCCCTCAGGGAGGCCGGCTGTCCTCAGGGGGACACGGCAGGAGAATCGAGCTGGGGGAGTGGCCCAGGATCCCGGCCCACAG
CCGTGGAAGGACTGGCCCTTGGCAGCTCTGCATCATCGTCGTCAGAGCCACCGCAGATTATCATCAACCCTGCCCGACAGAAGATGGTCCAGAAGCTGGC
CCTGTACGAGGATGGGGCCCTGGACAGCCTGCAGCTGCTGTCGTCCAGCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGT
GATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATCYGGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGC
ACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCTRCTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAAC
CCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTGGCGCATGTTGGGAGGCTGCTGGCTGCACAGACCCGTGAGG
GGAGGAGAGGGGCTGCTGTGCAGGGGTGTGGAGTAGGGAGCTGGCTCCCCTGAGAGCCATGCAGGGCGTCTGCAGCCCAGGCCTCTGGCAGCAGCTCTTT
GCCCATCTCTTTGGACAGTGGCCACCCTGCACAATGGGGCCGACGAGGCCTAGGGCCCTCCTACCTGCTTACAATTTGGAAAAGTGTGGCCGGGTGCGGT
GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGT
CTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGCYTGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTG
GGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGA
AGTATGGYTGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTG
TCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGCRCCACAGACGAGCTCCGAGCCAGGTCAGGC
TTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAGCTAGGCCCAAGACCTAGTTACCCAGACAG
GAAGGGAAACATTTTCAGGGAAAAGACATGTATCACATGTCTTCAGAAGCAAGTCAGGTTTCATGTAACCGAGTGTCCTCTTGCGTGTCCAAAAGTAGCC
CAGGGCTGTAGCACAGGCTTCACAGTGATTTTGTGTTCAGCCGTGAGTCACACTACATGCCCCCGTGAAGCTGGGCATTGGTGACGTCCAGGTTGTCCTT
GAGTAATAAAAACGTATGTTGC

Protein Sequence    (SEQ ID NO:1314):
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIIT
AWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCW
PLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGR
LAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLKDLVEEEAEEAGVALRSTQSTLQAGLAADAWAAPIAMQIYKKHLDPRPGPCPPELGLGLGQLACCC
LHRRAKRRPPMTQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQRGPNQPVESDESLGGLSAALRSWHLTPSCPLDPAPLREAGCPQGDTAGESS
WGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLALYEDGALDSLQLLSSSSLPGLGLEQDRQGPEESDEFQS


SNP Information

Context             (SEQ ID NO:10920):
GCTCCCTCCCAGGCTTGGGCCTGGAACAGGACAGGCAGGGGCCCGAAGAAAGTGATGAATTTCAGAGCTGATGTGTTCACCTGGGCAGATCCCCCAAATC
Y
GGAAGTCAAAGTTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAG
Celera SNP ID:            hCV15765460
SNP Position Transcript:  2248
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,40)   total(C,74|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None   



Context             (SEQ ID NO:10921):
GGGCCAAAAGGAGGCCTCCTATGACCCAGGAGAACTCCTACGTGTCCAGCACTGGCAGAGCCCACAGTGGGGCTGCTCCATGGCAGCCCCTGGCAGCGCC
R
TCAGGAGCCAGTGCCCAGGCAGCAGAGCAGCTGCAGAGAGGCCCCAACCAGCCCGTGGAGAGTGACGAGAGCCTAGGCGGCCTCTCTGCTGCCCTGCGCT
Celera SNP ID:            hCV15765437
SNP Position Transcript:  1780
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1314, 537, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:10922):
TTCTCATGGTCAGAAGTTCTCATGGTGCACGAGTCCTCAGCACTCTGCCGGCAGTGGGGGTGGGGGCCCATGCCCGCGGGGGAGAGAAGGAGGTGGCCCT
R
CTGTTCTAGGCTCTGTGGGCATAGGCAGGCAGAGTGGAACCCTGCCTCCATGCCAGCATCTGGGGGCAAGGAAGGCTGGCATCATCCAGTGAGGAGGCTG
Celera SNP ID:            hCV15765461
SNP Position Transcript:  2360
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None   



Context             (SEQ ID NO:10923):
GCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGGCTTTACTGGGGACCTGCGAGCTGGCCTAATGTGGTGGCCTGCAAGCCAGGCCATCCCTGGGC
R
CCACAGACGAGCTCCGAGCCAGGTCAGGCTTCGGAGGCCACAAGCTCAGCCTCAGGCCCAGGCACTGATTGTGGCAGAGGGGCCACTACCCAAGGTCTAG
Celera SNP ID:            hCV15765471
SNP Position Transcript:  3171
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None   



Context             (SEQ ID NO:10924):
GAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCAAAAAGAAAAACCCTGGGAAAAGTGAAGTATGG
Y
TGTAAGTCTCATGGTTCAGTCCTAGCAAGAAGCGAGAATTCTGAGATCCTCCAGAAAGTCGAGCAGCACCCACCTCCAACCTCGGGCCAGTGTCTTCAGG
Celera SNP ID:            hCV8966372
SNP Position Transcript:  3008
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None   



Context             (SEQ ID NO:10925):
GCTGGAGCCCAGTAGGTCAAGACCAGCCAGGGCAACATGATGAGACCCTGTCTCTGCCAAAAAATTTTTTAAACTATTAGCCTGGCGTGGTAGCGCACGC
Y
TGTGGTCCCAGCTGCTGGGGAGGCTGAAGTAGGAGGATCATTTATGCTTGGGAGGTCGAGGCTGCAGTGAGTCATGATTGTATGACTGCACTCCAGCCTG
Celera SNP ID:            hCV27158713
SNP Position Transcript:  2850
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1314, None   



Context             (SEQ ID NO:10926):
AGGCCTGGAGCCCCCGGAAGTTGCCATCCTCAGCCTCCACCTTCCTCTCCCCAGCTTTTCCAGGCTCCCAGACCCATTCAGGGCCTGAGCTCGGCCTGGT
Y
CCAAGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCC
Celera SNP ID:            hCV8966366
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,9)   caucasian(C,2|T,24)   total(C,31|T,33)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1314, 161, (V,GTC)   (V,GTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1314, 161, (V,GTT)   (V,GTC)      161, (V,GTC)   (V,GTT)      



Context             (SEQ ID NO:10927):
AGCCCTGCTTCCCTGTGGCCTCCACCGCCATCTCCAGCCCCTTCTTCTACCAAGCCAGGCCCAGAGAGCTCAGTGTCCCTCCTGCAGGGAGCCCGCCCCT
Y
TCCGTTTTGCTGGCCCCTCTGTGAGATTTCCCGGGGCACCCACAACTTCTCGGAGGAGCTCAAGATCGGGGAGGGTGGCTTTGGGTGCGTGTACCGGGCG
Celera SNP ID:            hCV8966367
SNP Position Transcript:  756
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1314, 196, (F,TTT)   (S,TCT)      196, (S,TCT)   (F,TTT)      



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT2281703 - 93000022563750
Public Transcript Accession: NM_002344
Celera Protein:              hCP1804016 - 197000064936657
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8854887..8856805)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:618):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCT
GTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGCTGGGGACAGCTGCTGGTGTGG
TTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCCRGGACC
CGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCCAGCGG
CCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTGAGAGGCGTGCAGCTG
TGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCATGGCGTCTTCG
TCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGTGAGCGCAGCCAGTGGGGA
TGGGSCGGCGCCGGCGCCGGGGGCGAGGGCTGCCTGGGGGCCGGGGGAGCGTGCTTTCCTCGGTGCCGGGTCACCAGCACAGCGAGGGGAGGCTCCCGGG
CCCCGCCGATTCCCTCCCCCGCTGCCCGCAGGG

Protein Sequence    (SEQ ID NO:1315):
MGCWGQLLVWFGAAGAILCSSPGSQETFLRSSPLPLASPSPRDPKVSAPPSILEPASPLNSPGTEGSWLFSTCGASGRHGPTQTQCDGAYAGTSVVVTVG
AAGQLRGVQLWRVPGPGQYLISAYGAAGGKGAKNHLSRAHGVFVSAIFSLGLGESLYILVGQQGEDACPGVSAASGDGAAPAPGARAAWGPGERAFLGAG
SPAQRGEAPGPRRFPPPLPAG


SNP Information

Context             (SEQ ID NO:10928):
AGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGTGAGCGCAGCCAGTGGGGATGGG
S
CGGCGCCGGCGCCGGGGGCGAGGGCTGCCTGGGGGCCGGGGGAGCGTGCTTTCCTCGGTGCCGGGTCACCAGCACAGCGAGGGGAGGCTCCCGGGCCCCG
Celera SNP ID:            hCV12067753
SNP Position Transcript:  705
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1315, 179, (P,CCG)   (A,GCG)      



Context             (SEQ ID NO:10929):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1315, None



Context             (SEQ ID NO:10930):
GTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCC
R
GGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCC
Celera SNP ID:            hCV11305249
SNP Position Transcript:  295
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,3|G,37)   total(A,7|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1315, 42, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,35)   total(A,6|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1315, 42, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,371|G,1130)   total(G,1130|A,371) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1315, 42, (Q,CAG)   (R,CGG)      



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT2281702 - 93000022563727
Public Transcript Accession: NM_002344
Celera Protein:              hCP1804023 - 197000064936664
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856805)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:619):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCT
GTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGCTGGGGACAGCTGCTGGTGTGG
TTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCCRGGACC
CGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCCAGCGG
CCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTGAGAGGCGTGCAGCTG
TGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCATGGCGTCTTCG
TCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGGTAGCCCGGAGAGCCAGCT
CGTCTGCCTCGGGGAGTCTCGAGCCGTTGAAGAGCACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGC
AGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAMCACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCG
GCGGTCGGGCCTACCTGAGGCCGCRGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGG
CGGGGCGGCAGGTGGTGGGGGCGGCTGGACGTCGCGGGCTCCCTCTCCGCAGGCCGGCCGCTCACTGCAGGAGGGGGCGGAGGGCGGCCAGGGCTGCTCC
GAGGCTTGGGCGACCCTTGGCTGGGCCGCGGCCGGCGGCTTCGGGGGCGGCGGCGGGGCCTGCACTGCGGGCGGAGGCGGCGGCGGCTACAGGGGGGGCG
ACGCTTCAGAGACTGACAACCTCTGGGCTGATGGGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGA
GAACCACGGAGAGGTAGAGATCCGAAGGCACCTCAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTG
TGCCCAGAAGGCATGGAGCTAGCTGTGGATAACGTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCT
CAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCCARTGAGCTGGG
ATGGGTTTCTGCGGGGTCCCGGGGCTGACTTCAAGACCACTCACCGCAGCAGAGCCGTGGTAGACTCCTCTGGGATTCTAAGATAGGAAGGAGCTGGGGA
GGCCTGGGGAAAACGTTTACCTTAATGAGCATCTGGAGGGGTGTCCTGGGCAGGTGGGGGAGGGAGAGTTGATGGGCAGGTGGAGGGTGTGCCGTTATTC
TTCCCACCCCCAGTGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCA
GGACAGCCCCCAATCCCTATTATTGCCAGGTGGGGCTTGGCCCGGCCCAGTCCTGGCCTCTGCCACCAGGTGTCACCGAGGTTTCCCCAGCCAATGTTAC
TCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGGRACTCCAGTCCCCTGCAGGTAGCTATCAAG
ACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTTTCGCCATCAGAACATTGTGCGGTGTGTGG
GGCTCAGCCTCAGGGCCACCCCTCGCCTCATTCTGCTGGAACTGATGTCTGGAGGGGACATGAAGAGTTTCCTGAGGCACAGTCGGCCACACCTGGGCCA
GCCATCACCTCTGGTCATGCGGGACCTGCTGCAACTGGCCCAGGACATAGCCCAGGGCTGCCACTACCTGGAGGAAAATCACTTCATCCACAGGGATATT
GCCGCCCGGAACTGCCTGCTGAGCTGCGCTGGACCCAGCCGAGTGGCCAAGATTGGGGACTTTGGGATGGCACGAGATATCTACCGGGCCAGTTATTACC
GCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCTRGTCTTTTGGGGT
GCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGCCGGATGGACCCT
CCTAGGGGCTGCCCAGGGCCTGTGTACCGCATCATGACCCAGTGTTGGCAGCACGAGCCTGAGCTCCGCCCTAGCTTTGCCAGCATCTTGGAGCGTCTGC
AGTACTGCACTCAGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGGCCCACCCCAGAGGAGGAAGGGACTTCTGGGCTGGGGAACAGATC
TTTGGAGTGCCTAAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAAGCTGGGGAGGTAGCCCTCTTGGCCCCTGGCTGTCCTCTGGCCTC
AAGCCCCTCAAATCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCGCTCCTGAGCCCCAAGGGGCCCTGAGGGTAAGGACTGAGGCACTG
AGGGTCCCTCCCTATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTCTGTTCCCTGCAGTCTGTGCTGTGTGTCTGGGCCTGTCTCGGGGC
TGGCCTGGCAGCGCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAAGGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGC
CTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGCRTCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAAT
AAAAAGCTCTTCTCATCCTCC

Protein Sequence    (SEQ ID NO:1316):
MGCWGQLLVWFGAAGAILCSSPGSQETFLRSSPLPLASPSPRDPKVSAPPSILEPASPLNSPGTEGSWLFSTCGASGRHGPTQTQCDGAYAGTSVVVTVG
AAGQLRGVQLWRVPGPGQYLISAYGAAGGKGAKNHLSRAHGVFVSAIFSLGLGESLYILVGQQGEDACPGGSPESQLVCLGESRAVEEHAAMDGSEGVPG
PPGREPSPSGSAPGQLEGASWNTPLAPQVRAGELEPLLVAAGGGGRAYLRPRDRGRTQASPEKLENRSEAPGSGGRGGAAGGGGGWTSRAPSPQAGRSLQ
EGAEGGQGCSEAWATLGWAAAGGFGGGGGACTAGGGGGGYRGGDASETDNLWADGEDGVSFIHPSSELFLQPLAVTENHGEVEIRRHLNCSHCPLRDCQW
QAELQLAECLCPEGMELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILGTKRLAGTVDSRLLLSSELGWVSAGSRG


SNP Information

Context             (SEQ ID NO:10931):
GCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGTGGTGGGGGCGGC
Celera SNP ID:            hCV25623494
SNP Position Transcript:  925
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 252, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:10932):
GGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  877
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 236, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:10933):
CACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGA
M
CACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGC
Celera SNP ID:            hCV25623496
SNP Position Transcript:  835
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,34)   total(A,59|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 222, (N,AAC)   (T,ACC)   



Context             (SEQ ID NO:10934):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  2071
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1316, None



Context             (SEQ ID NO:10935):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1316, None



Context             (SEQ ID NO:10936):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  3357
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1316, None   



Context             (SEQ ID NO:10937):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  2588
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1316, None   



Context             (SEQ ID NO:10938):
GTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCC
R
GGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCC
Celera SNP ID:            hCV11305249
SNP Position Transcript:  295
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,3|G,37)   total(A,7|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 42, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,35)   total(A,6|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 42, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,371|G,1130)   total(G,1130|A,371) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 42, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10939):
GTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCCA
R
TGAGCTGGGATGGGTTTCTGCGGGGTCCCGGGGCTGACTTCAAGACCACTCACCGCAGCAGAGCCGTGGTAGACTCCTCTGGGATTCTAAGATAGGAAGG
Celera SNP ID:            hCV2758484
SNP Position Transcript:  1591
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1316, 474, (N,AAT)   (S,AGT)      



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT2281698 - 93000022563667
Public Transcript Accession: NM_002344
Celera Protein:              hCP1804020 - 197000064936661
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856738)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:620):
GTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACA
GGGATGGGCTGCTGGGGACAGCTGCTGGTGTGGTTCGGAGCCGCGGGCGCCACCTACGTTTTCCGGGTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTC
CCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCCYYGCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGG
GGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAMCACGCCGCTGGCCCC
ACAGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCRGGACCGAGGCCGGACTCAGGCCTCC
CCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCAGAGACTGACAACCTCTGGGCTGATG
GGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGAGAACCACGGAGAGGTAGAGATCCGAAGGCACCT
CAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTGTGCCCAGAAGGCATGGAGCTAGCTGTGGATAAC
GTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCC
TGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCCARTGAGCTGGGATGGGTTTCTGCGGGGTCCCGGGGCTGACTTCA
AGACCACTCACCGCAGCAGAGCCGTGGTAGACTCCTCTGGGATTCTAAGATAGGAAGGAGCTGGGGAGGCCTGGGGAAAACGTTTACCTTAATGAGCATC
TGGAGGGGTGTCCTGGGCAGGTGGGGGAGGGAGAGTTGATGGGCAGGTGGAGGGTGTGCCGTTATTCTTCCCACCCCCAGTGAAGCAGAAGAAGTGGCAG
GGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCAGGACAGCCCCCAATCCCTATTATTGCCAGGTGG
GGCTTGGCCCGGCCCAGTCCTGGCCTCTGCCACCAGGTGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGG
GGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGGRACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAG
CTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTTTCGCCATCAGAACATTGTGCGGTGTGTGGGGCTCAGCCTCAGGGCCACCCCTCGCCTCATTC
TGCTGGAACTGATGTCTGGAGGGGACATGAAGAGTTTCCTGAGGCACAGTCGGCCACACCTGGGCCAGCCATCACCTCTGGTCATGCGGGACCTGCTGCA
ACTGGCCCAGGACATAGCCCAGGGCTGCCACTACCTGGAGGAAAATCACTTCATCCACAGGGATATTGCCGCCCGGAACTGCCTGCTGAGCTGCGCTGGA
CCCAGCCGAGTGGCCAAGATTGGGGACTTTGGGATGGCACGAGATATCTACCGGGCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGT
GGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCTRGTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACAT
GCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGCCGGATGGACCCTCCTAGGGGCTGCCCAGGGCCTGTGTGAGTTGAG
TGCTGCCCGGGAAGGGAGGTCCTTCACAACCATGGGTGGGCATGAACTCCTGCCTCTCCCCAGGTACCGCATCATGACCCAGTGTTGGCAGCACGAGCCT
GAGCTCCGCCCTAGCTTTGCCAGCATCTTGGAGCGTCTGCAGTACTGCACTCAGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGGCCCA
CCCCAGAGGAGGAAGGGACTTCTGGGCTGGGGAACAGATCTTTGGAGTGCCTAAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAAGCTG
GGGAGGTAGCCCTCTTGGCCCCTGGCTGTCCTCTGGCCTCAAGCCCCTCAAATCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCGCTCC
TGAGCCCCAAGGGGCCCTGAGGGTAAGGACTGAGGCACTGAGGGTCCCTCCCTATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTCTGTT
CCCTGCAGTCTGTGCTGTGTGTCTGGGCCTGTCTCGGGGCTGGCCTGGCAGCGCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAAGGGC
CCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGCRTCC
TTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC

Protein Sequence    (SEQ ID NO:1317):
MRLPSPELELSKLRTSAIRTAPNPYYCQVGLGPAQSWPLPPGVTEVSPANVTLLRALGHGAFGEVYEGLVIGLPGDSSPLQVAIKTLPELCSPQDELDFL
MEALIISKFRHQNIVRCVGLSLRATPRLILLELMSGGDMKSFLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAGPSRV
AKIGDFGMARDIYRASYYRRGDRALLPVKWMPPEAFLEGIFTSKTDSWSFGVLLWEIFSLGYMPYPGRTNQEVLDFVVGGGRMDPPRGCPGPV


SNP Information

Context             (SEQ ID NO:10940):
GCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCA
Celera SNP ID:            hCV25623494
SNP Position Transcript:  475
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None



Context             (SEQ ID NO:10941):
GGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  427
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None



Context             (SEQ ID NO:10942):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  1438
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1317, 76, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10943):
CCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGA
M
CACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGC
Celera SNP ID:            hCV25623496
SNP Position Transcript:  385
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,34)   total(A,59|C,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None



Context             (SEQ ID NO:10944):
GTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  12
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None



Context             (SEQ ID NO:10945):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  1955
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1317, 248, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10946):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  2797
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1317, None   



Context             (SEQ ID NO:10947):
GTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTCCCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCCC
Y
GCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCT
Celera SNP ID:            hCV11305252
SNP Position Transcript:  267
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,12)      total(C,3|T,12) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None   



Context             (SEQ ID NO:10948):
GGTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTCCCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCC
Y
TGCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGC
Celera SNP ID:            hCV25474411
SNP Position Transcript:  266
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,5)   caucasian(C,6|T,2)   total(C,7|T,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None



Context             (SEQ ID NO:10949):
GTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCCA
R
TGAGCTGGGATGGGTTTCTGCGGGGTCCCGGGGCTGACTTCAAGACCACTCACCGCAGCAGAGCCGTGGTAGACTCCTCTGGGATTCTAAGATAGGAAGG
Celera SNP ID:            hCV2758484
SNP Position Transcript:  958
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1317, None   



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT30541 - 93000022563643
Public Transcript Accession: NM_002344
Celera Protein:              hCP49089 - 197000064936660
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856805)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:621):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCT
GTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGCTGGGGACAGCTGCTGGTGTGG
TTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCCRGGACC
CGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCCAGCGG
CCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTGAGAGGCGTGCAGCTG
TGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCATGGCGTCTTCG
TCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGGTAGCCCGGAGAGCCAGCT
CGTCTGCCTCGGGGAGTCTCGAGCCGTTGAAGAGCACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGC
AGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAMCACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCG
GCGGTCGGGCCTACCTGAGGCCGCRGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGG
CGGGGCGGCAGGTGGTGGGGGCGGCTGGACGTCGCGGGCTCCCTCTCCGCAGGCCGGCCGCTCACTGCAGGAGGGGGCGGAGGGCGGCCAGGGCTGCTCC
GAGGCTTGGGCGACCCTTGGCTGGGCCGCGGCCGGCGGCTTCGGGGGCGGCGGCGGGGCCTGCACTGCGGGCGGAGGCGGCGGCGGCTACAGGGGTAGGT
GCACCGGGGCGACGCTTCAGAGACTGACAACCTCTGGGCTGATGGGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTG
GCAGTCACCGAGAACCACGGAGAGGTAGAGATCCGAAGGCACCTCAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGG
CTGAATGCCTGTGCCCAGAAGGCATGGAGCTAGCTGTGGATAACGTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGT
GGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCC
RTGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCAGGACAGCCCCCA
ATCCCTATTATTGCCAGGTGGGGCTTGGCCCGGCCCAGTCCTGGCCTCTGCCACCAGGTGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGC
CCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGGRACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAA
CTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTTTCGCCATCAGAACATTGTGCGGTGTGTGGGGCTCAGCCTCA
GGGCCACCCCTCGCCTCATTCTGCTGGAACTGATGTCTGGAGGGGACATGAAGAGTTTCCTGAGGCACAGTCGGCCACACCTGGGCCAGCCATCACCTCT
GGTCATGCGGGACCTGCTGCAACTGGCCCAGGACATAGCCCAGGGCTGCCACTACCTGGAGGAAAATCACTTCATCCACAGGGATATTGCCGCCCGGAAC
TGCCTGCTGAGCTGCGCTGGACCCAGCCGAGTGGCCAAGATTGGGGACTTTGGGATGGCACGAGATATCTACCGGGCCAGTTATTACCGCAGGGGGGACC
GGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCTRGTCTTTTGGGGTGCTGCTCTGGGA
GATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGCCGGATGGACCCTCCTAGGGGCTGC
CCAGGGCCTGTGTACCGCATCATGACCCAGTGTTGGCAGCACGAGCCTGAGCTCCGCCCTAGCTTTGCCAGCATCTTGGAGCGTCTGCAGTACTGCACTC
AGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGGCCCACCCCAGAGGAGGAAGGGACTTCTGGGCTGGGGAACAGATCTTTGGAGTGCCT
AAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAAGCTGGGGAGGTAGCCCTCTTGGCCCCTGGCTGTCCTCTGGCCTCAAGCCCCTCAAA
TCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCGCTCCTGAGCCCCAAGGGGCCCTGAGGGTAAGGACTGAGGCACTGAGGGTCCCTCCC
TATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTCTGTTCCCTGCAGTCTGTGCTGTGTGTCTGGGCCTGTCTCGGGGCTGGCCTGGCAGC
GCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAAGGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACC
CCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGCRTCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTC
TCATCCTCC

Protein Sequence    (SEQ ID NO:1318):
MELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILGTKRLAGTVDSRLLLSMKQKKWQGLQEMRLPSPELELSKLRTSAIRTAPNPYYCQVG
LGPAQSWPLPPGVTEVSPANVTLLRALGHGAFGEVYEGLVIGLPGDSSPLQVAIKTLPELCSPQDELDFLMEALIISKFRHQNIVRCVGLSLRATPRLIL
LELMSGGDMKSFLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAGPSRVAKIGDFGMARDIYRASYYRRGDRALLPVKW
MPPEAFLEGIFTSKTDSWSFGVLLWEIFSLGYMPYPGRTNQEVLDFVVGGGRMDPPRGCPGPVYRIMTQCWQHEPELRPSFASILERLQYCTQDPDVLNS
LLPMELGPTPEEEGTSGLGNRSLECLRPPQPQELSPEKLKSWGGSPLGPWLSSGLKPLKSRGLQPQNLWNPTYRS


SNP Information

Context             (SEQ ID NO:10950):
GCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGTGGTGGGGGCGGC
Celera SNP ID:            hCV25623494
SNP Position Transcript:  925
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None



Context             (SEQ ID NO:10951):
GGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  877
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None



Context             (SEQ ID NO:10952):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  1859
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1318, 146, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10953):
CACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGA
M
CACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGC
Celera SNP ID:            hCV25623496
SNP Position Transcript:  835
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,34)   total(A,59|C,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None



Context             (SEQ ID NO:10954):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None



Context             (SEQ ID NO:10955):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  2376
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1318, 318, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10956):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  3145
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1318, None   



Context             (SEQ ID NO:10957):
GTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCC
R
GGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCC
Celera SNP ID:            hCV11305249
SNP Position Transcript:  295
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,3|G,37)   total(A,7|G,71)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,35)   total(A,6|G,66)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,371|G,1130)   total(G,1130|A,371) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1318, None   



Context             (SEQ ID NO:10958):
GGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCC
R
TGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCAGGACAGCCCCCAA
Celera SNP ID:            hCV2758484
SNP Position Transcript:  1601
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1318, None   



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT2281697 - 93000022563708
Public Transcript Accession: NM_002344
Celera Protein:              hCP1804022 - 197000064936663
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856738)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:622):
GTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACA
GGGATGGGCTGCTGGGGACAGCTGCTGGTGTGGTTCGGAGCCGCGGGCGCCACCTACGTTTTCCGGGTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTC
CCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCCYYGCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGG
GGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAMCACGCCGCTGGCCCC
ACAGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCRGGACCGAGGCCGGACTCAGGCCTCC
CCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCAGAGACTGACAACCTCTGGGCTGATG
GGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGAGAACCACGGAGAGGTAGAGATCCGAAGGCACCT
CAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTGTGCCCAGAAGGCATGGAGCTAGCTGTGGATAAC
GTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCC
TGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCCRTGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCC
GAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCAGGACAGCCCCCAATCCCTATTATTGCCAGGTGGGGCTTGGCCCGGCCCAGTCCTGG
CCTCTGCCACCAGGTGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAA
TTGGCCTTCCTGGGRACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCT
CATCATCAGCAAGTTTCGCCATCAGAACATTGTGCGGTGTGTGGGGCTCAGCCTCAGGGCCACCCCTCGCCTCATTCTGCTGGAACTGATGTCTGGAGGG
GACATGAAGAGTTTCCTGAGGCACAGTCGGCCACACCTGGGCCAGCCATCACCTCTGGTCATGCGGGACCTGCTGCAACTGGCCCAGGACATAGCCCAGG
GCTGCCACTACCTGGAGGAAAATCACTTCATCCACAGGGATATTGCCGCCCGGAACTGCCTGCTGAGCTGCGCTGGACCCAGCCGAGTGGCCAAGATTGG
GGACTTTGGGATGGCACGAGATATCTACCGGGCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTG
GAGGGCATCTTCACATCCAAGACAGATTCCTRGTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACC
AGGAGGTGCTGGACTTCGTCGTTGGAGGAGGCCGGATGGACCCTCCTAGGGGCTGCCCAGGGCCTGTGTACCGCATCATGACCCAGTGTTGGCAGCACGA
GCCTGAGCTCCGCCCTAGCTTTGCCAGCATCTTGGAGCGTCTGCAGTACTGCACTCAGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGG
CCCACCCCAGAGGAGGAAGGGACTTCTGGGCTGGGGAACAGATCTTTGGAGTGCCTAAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAA
GCTGGGGAGGTAGCCCTCTTGGCCCCTGGCTGTCCTCTGGCCTCAAGCCCCTCAAATCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCG
CTCCTGAGCCCCAAGGGGCCCTGAGGGTAAGGACTGAGGCACTGAGGGTCCCTCCCTATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTC
TGTTCCCTGCAGTCTGTGCTGTGTGTCTGGGCCTGTCTCGGGGCTGGCCTGGCAGCGCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAA
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
RTCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC

Protein Sequence    (SEQ ID NO:1319):
MELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILGTKRLAGTVDSRLLLSMKQKKWQGLQEMRLPSPELELSKLRTSAIRTAPNPYYCQVG
LGPAQSWPLPPGVTEVSPANVTLLRALGHGAFGEVYEGLVIGLPGDSSPLQVAIKTLPELCSPQDELDFLMEALIISKFRHQNIVRCVGLSLRATPRLIL
LELMSGGDMKSFLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAGPSRVAKIGDFGMARDIYRASYYRRGDRALLPVKW
MPPEAFLEGIFTSKTDSWSFGVLLWEIFSLGYMPYPGRTNQEVLDFVVGGGRMDPPRGCPGPVYRIMTQCWQHEPELRPSFASILERLQYCTQDPDVLNS
LLPMELGPTPEEEGTSGLGNRSLECLRPPQPQELSPEKLKSWGGSPLGPWLSSGLKPLKSRGLQPQNLWNPTYRS


SNP Information

Context             (SEQ ID NO:10959):
GCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCA
Celera SNP ID:            hCV25623494
SNP Position Transcript:  475
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None



Context             (SEQ ID NO:10960):
GGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGAACACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  427
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None



Context             (SEQ ID NO:10961):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  1215
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1319, 146, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10962):
CCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCTGGAGGGCGCTTCCTGGA
M
CACGCCGCTGGCCCCACAGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGC
Celera SNP ID:            hCV25623496
SNP Position Transcript:  385
SNP Source:               Applera
Population(Allele,Count): african american(A,25|C,3)   caucasian(A,34)   total(A,59|C,3)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None



Context             (SEQ ID NO:10963):
GTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  12
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None



Context             (SEQ ID NO:10964):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  1732
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1319, 318, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10965):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  2501
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1319, None   



Context             (SEQ ID NO:10966):
GTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTCCCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCCC
Y
GCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGCT
Celera SNP ID:            hCV11305252
SNP Position Transcript:  267
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,12)      total(C,3|T,12) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None   



Context             (SEQ ID NO:10967):
GGTACGTGCTCCCTTCGGCGCTCAGCGTTGGGGTCCCAATCCTCTCCCCAGGGGCGCTCACGCACCGGCTCTCCGTCCGTCCCTTGGGGTCCCCCTATCC
Y
TGCGCTGGGCTGGGCTGGCCTGGGCTGGGCTGGGGGCCCCTGCCCTTATCCAGGCCCCCTGGGCGGGAGCCCTCTCCCAGTGGCAGTGCCCCTGGACAGC
Celera SNP ID:            hCV25474411
SNP Position Transcript:  266
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,5)   caucasian(C,6|T,2)   total(C,7|T,7)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1319, None



Context             (SEQ ID NO:10968):
GGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTGATTCTGGGTACGAAGCGTCTAGCAGGCACAGTTGATTCAAGGCTGCTCCTCTCC
R
TGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCATCAGGACAGCCCCCAA
Celera SNP ID:            hCV2758484
SNP Position Transcript:  957
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1319, None   



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT1957920 - 93000022563684
Public Transcript Accession: NM_002344
Celera Protein:              hCP1762545 - 197000064936662
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856805)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:623):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCT
GTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGCTGGGGACAGCTGCTGGTGTGG
TTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCCRGGACC
CGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCCAGCGG
CCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTGAGAGGCGTGCAGCTG
TGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCATGGCGTCTTCG
TCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGGTAGCCCGGAGAGCCAGCT
CGTCTGCCTCGGGGAGTCTCGAGCCGTTGAAGAGCACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGTCGCGGCGCTGGGCGGGAGGTGGCGGGGGT
GGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCRGG
ACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGTGGTGGGGGCGGCTG
GACGTCGCGGGCTCCCTCTCCGCAGGCCGGCCGCTCACTGCAGGAGGGGGCGGAGGGCGGCCAGGGCTGCTCCGAGGCTTGGGCGACCCTTGGCTGGGCC
GCGGCCGGCGGCTTCGGGGGCGGCGGCGGGGCCTGCACTGCGGGCGGAGGCGGCGGCGGCTACAGGGGGGGCGACGCTTCAGAGACTGACAACCTCTGGG
CTGATGGGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGAGAACCACGGAGAGGTAGAGATCCGAAG
GCACCTCAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTGTGCCCAGAAGGCATGGAGCTAGCTGTG
GATAACGTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTG
GGGTCCTGATTCTGGTGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAGCTTCGAACCTCTGCCAT
CAGGACAGCCCCCAATCCCTATTATTGCCAGGTGGGGCTTGGCCCGGCCCAGTCCTGGCCTCTGCCACCAGGTGTCACCGAGGTTTCCCCAGCCAATGTT
ACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGGRACTCCAGTCCCCTGCAGGTAGCTATCA
AGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTTTCGCCATCAGAACATTGTGCGGTGTGT
GGGGCTCAGCCTCAGGGCCACCCCTCGCCTCATTCTGCTGGAACTGATGTCTGGAGGGGACATGAAGAGTTTCCTGAGGCACAGTCGGCCACACCTGGGC
CAGCCATCACCTCTGGTCATGCGGGACCTGCTGCAACTGGCCCAGGACATAGCCCAGGGCTGCCACTACCTGGAGGAAAATCACTTCATCCACAGGGATA
TTGCCGCCCGGAACTGCCTGCTGAGCTGCGCTGGACCCAGCCGAGTGGCCAAGATTGGGGACTTTGGGATGGCACGAGATATCTACCGGGCCAGTTATTA
CCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCTRGTCTTTTGGG
GTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGCCGGATGGACC
CTCCTAGGGGCTGCCCAGGGCCTGTGTACCGCATCATGACCCAGTGTTGGCAGCACGAGCCTGAGCTCCGCCCTAGCTTTGCCAGCATCTTGGAGCGTCT
GCAGTACTGCACTCAGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGGCCCACCCCAGAGGAGGAAGGGACTTCTGGGCTGGGGAACAGA
TCTTTGGAGTGCCTAAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAAGCTGGGGAGGTAGCCCTCTTGGCCCCTGGCTGTCCTCTGGCC
TCAAGCCCCTCAAATCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCGCTCCTGAGCCCCAAGGGGCCCTGAGGGTAAGGACTGAGGCAC
TGAGGGTCCCTCCCTATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTCTGTTCCCTGCAGTCTGTGCTGTGTGTCTGGGCCTGTCTCGGG
GCTGGCCTGGCAGCGCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAAGGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCC
GCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGCRTCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTA
ATAAAAAGCTCTTCTCATCCTCC

Protein Sequence    (SEQ ID NO:1320):
MGCWGQLLVWFGAAGAILCSSPGSQETFLRSSPLPLASPSPRDPKVSAPPSILEPASPLNSPGTEGSWLFSTCGASGRHGPTQTQCDGAYAGTSVVVTVG
AAGQLRGVQLWRVPGPGQYLISAYGAAGGKGAKNHLSRAHGVFVSAIFSLGLGESLYILVGQQGEDACPGGSPESQLVCLGESRAVEEHAAMDGSEGVPG
SRRWAGGGGGGGGATYVFRVRAGELEPLLVAAGGGGRAYLRPRDRGRTQASPEKLENRSEAPGSGGRGGAAGGGGGWTSRAPSPQAGRSLQEGAEGGQGC
SEAWATLGWAAAGGFGGGGGACTAGGGGGGYRGGDASETDNLWADGEDGVSFIHPSSELFLQPLAVTENHGEVEIRRHLNCSHCPLRDCQWQAELQLAEC
LCPEGMELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILVKQKKWQGLQEMRLPSPELELSKLRTSAIRTAPNPYYCQVGLGPAQSWPLPP
GVTEVSPANVTLLRALGHGAFGEVYEGLVIGLPGDSSPLQVAIKTLPELCSPQDELDFLMEALIISKFRHQNIVRCVGLSLRATPRLILLELMSGGDMKS
FLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAGPSRVAKIGDFGMARDIYRASYYRRGDRALLPVKWMPPEAFLEGIF
TSKTDSWSFGVLLWEIFSLGYMPYPGRTNQEVLDFVVGGGRMDPPRGCPGPVYRIMTQCWQHEPELRPSFASILERLQYCTQDPDVLNSLLPMELGPTPE
EEGTSGLGNRSLECLRPPQPQELSPEKLKSWGGSPLGPWLSSGLKPLKSRGLQPQNLWNPTYRS


SNP Information

Context             (SEQ ID NO:10969):
GGTGGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGTGGTGGGGGCGGC
Celera SNP ID:            hCV25623494
SNP Position Transcript:  898
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 243, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:10970):
GGGAGCGAAGGGGTCCCGGGGTCGCGGCGCTGGGCGGGAGGTGGCGGGGGTGGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  850
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 227, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:10971):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  1773
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 535, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10972):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1320, None



Context             (SEQ ID NO:10973):
GTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCC
R
GGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCC
Celera SNP ID:            hCV11305249
SNP Position Transcript:  295
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,3|G,37)   total(A,7|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 42, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,35)   total(A,6|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 42, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,371|G,1130)   total(G,1130|A,371) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 42, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10974):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  2290
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1320, 707, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10975):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  3059
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1320, None   



Gene Number:                 240
Celera Gene:                 hCG39290 - 93000022563619
Celera Transcript:           hCT2281701 - 93000022563620
Public Transcript Accession: NM_002344
Celera Protein:              hCP1804018 - 197000064936659
Public Protein Accession:    NP_002335
Gene Symbol:                 LTK
Protein Name:                leukocyte tyrosine kinase;TYK1
Celera Genomic Axis:         GA_x5YUV32W323(8846563..8856805)
Chromosome:                  Chr15
OMIM number:                 151520
OMIM Information:            LEUKOCYTE TYROSINE KINASE;LTK


Transcript Sequence (SEQ ID NO:624):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAGRGCTGCCGTGGCAAAATGAGCT
GTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGCTGGGGACAGCTGCTGGTGTGG
TTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCCRGGACC
CGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCCAGCGG
CCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTGAGAGGCGTGCAGCTG
TGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCATGGCGTCTTCG
TCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGGTAGCCCGGAGAGCCAGCT
CGTCTGCCTCGGGGAGTCTCGAGCCGTTGAAGAGCACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGTCGCGGCGCTGGGCGGGAGGTGGCGGGGGT
GGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAACYGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCRGG
ACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCAGA
GACTGACAACCTCTGGGCTGATGGGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGAGAACCACGGA
GAGGTAGAGATCCGAAGGCACCTCAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTGTGCCCAGAAG
GCATGGAGCTAGCTGTGGATAACGTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCTCAACACTGAG
CCTCCTTATGGTGTGTGGGGTCCTGATTCTGGTGAAGCAGAAGAAGTGGCAGGGCCTGCAGGAGATGAGGCTGCCGAGCCCTGAGCTTGAGCTGAGCAAG
CTTCGAACCTCTGCCATCAGGACAGCCCCCAATCCCTATTATTGCCAGGTGGGGCTTGGCCCGGCCCAGTCCTGGCCTCTGCCACCAGGTGTCACCGAGG
TTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGGRACTCCAGTCC
CCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTTTCGCCATCAG
AACATTGTGCGGTGTGTGGGGCTCAGCCTCAGGGCCACCCCTCGCCTCATTCTGCTGGAACTGATGTCTGGAGGGGACATGAAGAGTTTCCTGAGGCACA
GTCGGCCACACCTGGGCCAGCCATCACCTCTGGTCATGCGGGACCTGCTGCAACTGGCCCAGGACATAGCCCAGGGCTGCCACTACCTGGAGGAAAATCA
CTTCATCCACAGGGATATTGCCGCCCGGAACTGCCTGCTGAGCTGCGCTGGACCCAGCCGAGTGGCCAAGATTGGGGACTTTGGGATGGCACGAGATATC
TACCGGGCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAG
ATTCCTRGTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGG
AGGAGGCCGGATGGACCCTCCTAGGGGCTGCCCAGGGCCTGTGTACCGCATCATGACCCAGTGTTGGCAGCACGAGCCTGAGCTCCGCCCTAGCTTTGCC
AGCATCTTGGAGCGTCTGCAGTACTGCACTCAGGACCCGGATGTGCTGAATTCACTCCTGCCAATGGAGCTGGGGCCCACCCCAGAGGAGGAAGGGACTT
CTGGGCTGGGGAACAGATCTTTGGAGTGCCTAAGACCCCCACAGCCCCAGGAACTGAGTCCAGAGAAGTTGAAAAGCTGGGGAGGTAGCCCTCTTGGCCC
CTGGCTGTCCTCTGGCCTCAAGCCCCTCAAATCCAGGGGCCTCCAACCTCAGAACCTTTGGAATCCCACTTATCGCTCCTGAGCCCCAAGGGGCCCTGAG
GGTAAGGACTGAGGCACTGAGGGTCCCTCCCTATACTCCTCAGGCTCCTGGGTGGCCTGTTATGCCAGCGGCCTCTGTTCCCTGCAGTCTGTGCTGTGTG
TCTGGGCCTGTCTCGGGGCTGGCCTGGCAGCGCTGCACTTGCCATGCTGGAAACCAGCCCAGGCCTCCCAGGGAAGGGCCCAGCCACTTCCAGCTTTTGA
TCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGCRTCCTTCATCTGGGCAGACCCCCCA
CCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC

Protein Sequence    (SEQ ID NO:1321):
MGCWGQLLVWFGAAGAILCSSPGSQETFLRSSPLPLASPSPRDPKVSAPPSILEPASPLNSPGTEGSWLFSTCGASGRHGPTQTQCDGAYAGTSVVVTVG
AAGQLRGVQLWRVPGPGQYLISAYGAAGGKGAKNHLSRAHGVFVSAIFSLGLGESLYILVGQQGEDACPGGSPESQLVCLGESRAVEEHAAMDGSEGVPG
SRRWAGGGGGGGGATYVFRVRAGELEPLLVAAGGGGRAYLRPRDRGRTQASPEKLENRSEAPGSGGRGGAAGGDASETDNLWADGEDGVSFIHPSSELFL
QPLAVTENHGEVEIRRHLNCSHCPLRDCQWQAELQLAECLCPEGMELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILVKQKKWQGLQEMR
LPSPELELSKLRTSAIRTAPNPYYCQVGLGPAQSWPLPPGVTEVSPANVTLLRALGHGAFGEVYEGLVIGLPGDSSPLQVAIKTLPELCSPQDELDFLME
ALIISKFRHQNIVRCVGLSLRATPRLILLELMSGGDMKSFLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAGPSRVAK
IGDFGMARDIYRASYYRRGDRALLPVKWMPPEAFLEGIFTSKTDSWSFGVLLWEIFSLGYMPYPGRTNQEVLDFVVGGGRMDPPRGCPGPVYRIMTQCWQ
HEPELRPSFASILERLQYCTQDPDVLNSLLPMELGPTPEEEGTSGLGNRSLECLRPPQPQELSPEKLKSWGGSPLGPWLSSGLKPLKSRGLQPQNLWNPT
YRS


SNP Information

Context             (SEQ ID NO:10976):
GGTGGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGC
R
GGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCA
Celera SNP ID:            hCV25623494
SNP Position Transcript:  898
SNP Source:               Applera
Population(Allele,Count): african american(G,32)   caucasian(A,2|G,32)   total(A,2|G,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 243, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:10977):
GGGAGCGAAGGGGTCCCGGGGTCGCGGCGCTGGGCGGGAGGTGGCGGGGGTGGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAAC
Y
GTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGAGGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAG
Celera SNP ID:            hCV25623495
SNP Position Transcript:  850
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,1)   caucasian(C,33|T,1)   total(C,64|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 227, (P,CCG)   (L,CTG)   



Context             (SEQ ID NO:10978):
TGTCACCGAGGTTTCCCCAGCCAATGTTACTCTGCTCAGAGCCCTGGGCCATGGTGCCTTTGGGGAGGTGTATGAGGGACTGGTAATTGGCCTTCCTGGG
R
ACTCCAGTCCCCTGCAGGTAGCTATCAAGACCCTGCCAGAACTCTGCTCGCCTCAGGATGAGCTGGATTTCCTCATGGAGGCCCTCATCATCAGCAAGTT
Celera SNP ID:            hCV25623506
SNP Position Transcript:  1590
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,4|G,36)   total(A,5|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 474, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:10979):
AGGTGGGCGTGGCCAGACCAGCTTTAGGTCCGGGGAGTGTCTCGCCAGCGGCAGCACACCCCTGTAAGTGGTGGCCAG
R
GCTGCCGTGGCAAAATGAGCTGTCAACTTTAGGTTGACAGGGGTGTGGCCGCGACCGCAAGGGCTTTTGTTGCCGGGTGGACCCAACAGGGATGGGCTGC
Celera SNP ID:            hCV25623497
SNP Position Transcript:  79
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1321, None



Context             (SEQ ID NO:10980):
GTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCGCTGGCAAGTCCCAGCCCCC
R
GGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTTTCTACCTGCGGGGCC
Celera SNP ID:            hCV11305249
SNP Position Transcript:  295
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,3|G,37)   total(A,7|G,71)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 42, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,35)   total(A,6|G,66)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 42, (Q,CAG)   (R,CGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,371|G,1130)   total(G,1130|A,371) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 42, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:10981):
GCCAGTTATTACCGCAGGGGGGACCGGGCCTTGCTCCCAGTCAAGTGGATGCCCCCAGAGGCCTTCCTGGAGGGCATCTTCACATCCAAGACAGATTCCT
R
GTCTTTTGGGGTGCTGCTCTGGGAGATCTTCTCACTGGGCTACATGCCCTATCCTGGGCGCACCAACCAGGAGGTGCTGGACTTCGTCGTTGGAGGAGGC
Celera SNP ID:            hCV15966045
SNP Position Transcript:  2107
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,7|G,1490)   total(G,1490|A,7) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1321, 646, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:10982):
GGGCCCAGCCACTTCCAGCTTTTGATCTTGGGGCCAGAGGCCGCCTTACACACACCCCAGGTGTCCATGGGGAGCACTGGATTGCTCTCCCATTATGAGC
R
TCCTTCATCTGGGCAGACCCCCCACCCTGCAGATGCTTCTAATAAAAAGCTCTTCTCATCCTCC
Celera SNP ID:            hCV2345629
SNP Position Transcript:  2876
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1321, None   



Gene Number:                 241
Celera Gene:                 hCG39356 - 62000133294260
Celera Transcript:           hCT1950669 - 62000133294261
Public Transcript Accession: 
Celera Protein:              hCP1763392 - 197000069435089
Public Protein Accession:    
Gene Symbol:                 FLJ30469
Protein Name:                hypothetical protein FLJ30469
Celera Genomic Axis:         GA_x5YUV32VTL1(6510655..6541676)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:625):
ATGCTCCCAGCATGCAACTTGGCTTCACCTGTCAAAGGCGCTTTTTTCGAAGACGCCCGGGAGCTCTTGCTTTTGCTTGAGGGTCTTTGGTGTTGACTGA
GAGCGAATTAAAAGGTTCTCAGCTTTCGCTAAGGAACGCATTCTGGAGTCTAGAACAGGCGAAGATGGGACTGGGGTGTCTGGGGACTTAGACGTGAGCG
AGCAAGGGAATCCGGGGGTCCCAAGCCCTGCAGTGCTACAGCTTTGAGCACACCTACTTTGGCCCCTTTGACCTCAGGGCCATGAAGCTGCCCAGCATCT
CCTGTCCTCATGAGTGCTTTGAGGCTATCCTGTCTCTGGACACCGGGTATCGCGCGCCGGTGACCCTGGTGCGGAAGGGCTGCTGGACCGGGCCTCCTGC
GGGCCAGACGCAATCGAACSCGGACGCGCTGCCGCCAGACTACTCGGTGGTGCGCGGCTGCACAACTGACAAATGCAACGCCCACCTCATGACTCATGAC
GCCCTCCCCAACCTGAGCCAAGCACCCGACCCGCCGACGCTCAGCGGCGCCGAGTGCTACGCCTGTATCGGGGTCCACCAGGATGACTGCGCTATCGGCA
GGTCCCGACGAGTCCAGTGTCACCAGGACCAGACCGCCTGCTTCCAGGGCARTGGCAGAATGACAGTTGGCAATTTCTCAGTCCCTGTGTACATCAGAAC
CTGCCACCGGCCCTCCTGCACCACCGAGGGCACCACCAGCCCCTGGACAGCCATCGACCTCCAGGGCTCCTGCTGTGAGGGGTACCTCTGCAACAGGAAA
TCCATGACCCAGCCCTTCACCAGTGCTTCAGCCACCACCCCTCCCCGAGCACTACAGGTCCTGGCCCTGCTCCTCCCAGTCCTCCTGCTGGTGGGGCTCT
CAGCATAGACCGCCCCTCCAGGATGCTGGGGACAGGGCTCACACACCTCATTCTTGCTGCTTCAGCCCCTATCACATAGCTCACTGGAAAATGATGTTAA
AGTAAGAATTGCACTCCTGTCCCTCTGGCCTTCCATCTCTCCYGCCCTTGTGCCCCACAACCTGGCCAACAGTACTGGAAGAAACTGGACACAGTCACCA
GCATCCCMGGGGAGGGCAAAACAGCCATGTCGTGCCCYGATGAAGAGCAATTCTGATCACAGCTGTTACTCAMTGAGCACCAGCCAGGCACCAGGCACCC
CATAACACGGCTTCCTGTGCTCTCCYTCCAGAGCCTGTCGCAGCTCTAGGRGGGAGCTATACAATGATGTCTTTATTAGTGTCATCATGAGAAGCCCAAT
AAGCAGTATGCCCTAACAGTTAGTAGGCCAGGCTCTGGAGCTAAGCTGCATGGGTTCAAATCCCAGCTCCACCATTCAGCCTGCAGAGACCATGAGCGAG
TTACTTAAGCCAGGCTCTGGAGCTAAGCTGCATGGGTTCAAATCCCAGCTCCAGCATTCAGCCTACAGAGACCATGGGTGAGTTACTTAAGCCAGGCTCT
GGAGCTAAGCTGCATGGGTTCAAATCCCAGCTCCACCATTCAGCCTGCAGAGACTGTGGGTGAGTTACTTGAGCTCTCTGTGCCAATATTTTCTCACCTA
TAAGGTGGAGGTGAAAATAAACTCTATAACATGACAAGAACTACTTCACAGTAGTTGCAGTGAGGATTCAACGAGATGAACATTTAGTACTTGGGACACA
GCAGTGGCCCAGTRTAAATGGGCTACTTGTCATAAGCCCTAAGTCACAGGTCAACAAACTGAGAGGYAAAAGCACTTGGTTGAGCTTGTGTATCTAGTGA
GTATGGATTYAGGGACCAGATTCCCAGCCCCACGAACTGCTAAGCAACCCCMCCTCCTAAACACATGAGTGCCGATTAACTTCACAGAAAAACACMCAAG
GCAAAGTTCAGCGAGGTGAAATTCTCCAAGCTATAAAGATCAGGGAAGACTTCCTGGAGGAATTCACCCTTGAGCAAAATCCTAAAGGATCAATAGTAGC
TGGCAAAAAGAAGCAGGAGGAAGCRCATTCTAGGTAGAGGAGACAGCCTGGACAAAGGTCTGAGGGAGGAAGGARCACAAGGAGTGCAGGACACTTTCAT
RAGTGCAGGACACTTTCATAACTGCATGAACTTCATAGAGATGGGATCCTTTAGCATGTTCTCTGTGCACATGCTTGACCATGTTCTTTCACATGCTTTT
TGCCACTTGATCTTTCCAGCAACTCAGTGAGAGAAGCAAAAAAGTAAGTTGCATCCTG

Protein Sequence    (SEQ ID NO:1322):
MKLPSISCPHECFEAILSLDTGYRAPVTLVRKGCWTGPPAGQTQSNPDALPPDYSVVRGCTTDKCNAHLMTHDALPNLSQAPDPPTLSGAECYACIGVHQ
DDCAIGRSRRVQCHQDQTACFQGNGRMTVGNFSVPVYIRTCHRPSCTTEGTTSPWTAIDLQGSCCEGYLCNRKSMTQPFTSASATTPPRALQVLALLLPV
LLLVGLSA


SNP Information

Context             (SEQ ID NO:10983):
CAGTGTAAATGGGCTACTTGTCATAAGCCCTAAGTCACAGGTCAACAAACTGAGAGGCAAAAGCACTTGGTTGAGCTTGTGTATCTAGTGAGTATGGATT
Y
AGGGACCAGATTCCCAGCCCCACGAACTGCTAAGCAACCCCACCTCCTAAACACATGAGTGCCGATTAACTTCACAGAAAAACACACAAGGCAAAGTTCA
Celera SNP ID:            hCV7613723
SNP Position Transcript:  1810
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10984):
CAAAATCCTAAAGGATCAATAGTAGCTGGCAAAAAGAAGCAGGAGGAAGCGCATTCTAGGTAGAGGAGACAGCCTGGACAAAGGTCTGAGGGAGGAAGGA
R
CACAAGGAGTGCAGGACACTTTCATGAGTGCAGGACACTTTCATAACTGCATGAACTTCATAGAGATGGGATCCTTTAGCATGTTCTCTGTGCACATGCT
Celera SNP ID:            hCV1174819
SNP Position Transcript:  2075
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,7)   total(G,2|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10985):
TCTCCCGCCCTTGTGCCCCACAACCTGGCCAACAGTACTGGAAGAAACTGGACACAGTCACCAGCATCCCAGGGGAGGGCAAAACAGCCATGTCGTGCCC
Y
GATGAAGAGCAATTCTGATCACAGCTGTTACTCACTGAGCACCAGCCAGGCACCAGGCACCCCATAACACGGCTTCCTGTGCTCTCCCTCCAGAGCCTGT
Celera SNP ID:            hCV8597585
SNP Position Transcript:  1138
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(C,1|T,39)   total(C,2|T,76)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,8)      total(C,2|T,8) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10986):
CAACAAACTGAGAGGCAAAAGCACTTGGTTGAGCTTGTGTATCTAGTGAGTATGGATTCAGGGACCAGATTCCCAGCCCCACGAACTGCTAAGCAACCCC
M
CCTCCTAAACACATGAGTGCCGATTAACTTCACAGAAAAACACACAAGGCAAAGTTCAGCGAGGTGAAATTCTCCAAGCTATAAAGATCAGGGAAGACTT
Celera SNP ID:            hCV27469337
SNP Position Transcript:  1852
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10987):
ATTGCACTCCTGTCCCTCTGGCCTTCCATCTCTCCCGCCCTTGTGCCCCACAACCTGGCCAACAGTACTGGAAGAAACTGGACACAGTCACCAGCATCCC
M
GGGGAGGGCAAAACAGCCATGTCGTGCCCTGATGAAGAGCAATTCTGATCACAGCTGTTACTCACTGAGCACCAGCCAGGCACCAGGCACCCCATAACAC
Celera SNP ID:            hCV8597586
SNP Position Transcript:  1108
SNP Source:               Applera
Population(Allele,Count): african american(A,20|C,12)   caucasian(A,22|C,16)   total(A,42|C,28)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,4|A,5)   total(A,5|C,4) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10988):
TGGCAAAAAGAAGCAGGAGGAAGCGCATTCTAGGTAGAGGAGACAGCCTGGACAAAGGTCTGAGGGAGGAAGGAACACAAGGAGTGCAGGACACTTTCAT
R
AGTGCAGGACACTTTCATAACTGCATGAACTTCATAGAGATGGGATCCTTTAGCATGTTCTCTGTGCACATGCTTGACCATGTTCTTTCACATGCTTTTT
Celera SNP ID:            hCV11463477
SNP Position Transcript:  2101
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10989):
CATGTCGTGCCCTGATGAAGAGCAATTCTGATCACAGCTGTTACTCACTGAGCACCAGCCAGGCACCAGGCACCCCATAACACGGCTTCCTGTGCTCTCC
Y
TCCAGAGCCTGTCGCAGCTCTAGGAGGGAGCTATACAATGATGTCTTTATTAGTGTCATCATGAGAAGCCCAATAAGCAGTATGCCCTAACAGTTAGTAG
Celera SNP ID:            hCV7613735
SNP Position Transcript:  1226
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,20)   caucasian(C,23|T,17)   total(C,39|T,37)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,9)      total(C,9|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10990):
TACTGGAAGAAACTGGACACAGTCACCAGCATCCCAGGGGAGGGCAAAACAGCCATGTCGTGCCCTGATGAAGAGCAATTCTGATCACAGCTGTTACTCA
M
TGAGCACCAGCCAGGCACCAGGCACCCCATAACACGGCTTCCTGTGCTCTCCCTCCAGAGCCTGTCGCAGCTCTAGGAGGGAGCTATACAATGATGTCTT
Celera SNP ID:            hCV7613736
SNP Position Transcript:  1173
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10991):
TTCTGATCACAGCTGTTACTCACTGAGCACCAGCCAGGCACCAGGCACCCCATAACACGGCTTCCTGTGCTCTCCCTCCAGAGCCTGTCGCAGCTCTAGG
R
GGGAGCTATACAATGATGTCTTTATTAGTGTCATCATGAGAAGCCCAATAAGCAGTATGCCCTAACAGTTAGTAGGCCAGGCTCTGGAGCTAAGCTGCAT
Celera SNP ID:            hCV560377
SNP Position Transcript:  1251
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,19)   caucasian(A,23|G,17)   total(A,38|G,36)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10992):
TGAGGCTATCCTGTCTCTGGACACCGGGTATCGCGCGCCGGTGACCCTGGTGCGGAAGGGCTGCTGGACCGGGCCTCCTGCGGGCCAGACGCAATCGAAC
S
CGGACGCGCTGCCGCCAGACTACTCGGTGGTGCGCGGCTGCACAACTGACAAATGCAACGCCCACCTCATGACTCATGACGCCCTCCCCAACCTGAGCCA
Celera SNP ID:            hCV11707162
SNP Position Transcript:  420
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,2)   total(G,2|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1322, 47, (P,CCG)   (A,GCG)      



Context             (SEQ ID NO:10993):
GAGTGCTACGCCTGTATCGGGGTCCACCAGGATGACTGCGCTATCGGCAGGTCCCGACGAGTCCAGTGTCACCAGGACCAGACCGCCTGCTTCCAGGGCA
R
TGGCAGAATGACAGTTGGCAATTTCTCAGTCCCTGTGTACATCAGAACCTGCCACCGGCCCTCCTGCACCACCGAGGGCACCACCAGCCCCTGGACAGCC
Celera SNP ID:            hCV7613737
SNP Position Transcript:  652
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,22|G,18)   total(A,39|G,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1322, 124, (N,AAT)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1322, 124, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:10994):
AAAATAAACTCTATAACATGACAAGAACTACTTCACAGTAGTTGCAGTGAGGATTCAACGAGATGAACATTTAGTACTTGGGACACAGCAGTGGCCCAGT
R
TAAATGGGCTACTTGTCATAAGCCCTAAGTCACAGGTCAACAAACTGAGAGGCAAAAGCACTTGGTTGAGCTTGTGTATCTAGTGAGTATGGATTCAGGG
Celera SNP ID:            hCV560378
SNP Position Transcript:  1714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10995):
TTCAACGAGATGAACATTTAGTACTTGGGACACAGCAGTGGCCCAGTGTAAATGGGCTACTTGTCATAAGCCCTAAGTCACAGGTCAACAAACTGAGAGG
Y
AAAAGCACTTGGTTGAGCTTGTGTATCTAGTGAGTATGGATTCAGGGACCAGATTCCCAGCCCCACGAACTGCTAAGCAACCCCACCTCCTAAACACATG
Celera SNP ID:            hCV560379
SNP Position Transcript:  1767
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10996):
AGTGAGTATGGATTCAGGGACCAGATTCCCAGCCCCACGAACTGCTAAGCAACCCCACCTCCTAAACACATGAGTGCCGATTAACTTCACAGAAAAACAC
M
CAAGGCAAAGTTCAGCGAGGTGAAATTCTCCAAGCTATAAAGATCAGGGAAGACTTCCTGGAGGAATTCACCCTTGAGCAAAATCCTAAAGGATCAATAG
Celera SNP ID:            hCV27507722
SNP Position Transcript:  1896
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10997):
TCCAAGCTATAAAGATCAGGGAAGACTTCCTGGAGGAATTCACCCTTGAGCAAAATCCTAAAGGATCAATAGTAGCTGGCAAAAAGAAGCAGGAGGAAGC
R
CATTCTAGGTAGAGGAGACAGCCTGGACAAAGGTCTGAGGGAGGAAGGAACACAAGGAGTGCAGGACACTTTCATGAGTGCAGGACACTTTCATAACTGC
Celera SNP ID:            hCV7613722
SNP Position Transcript:  2025
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None   



Context             (SEQ ID NO:10998):
ACACCTCATTCTTGCTGCTTCAGCCCCTATCACATAGCTCACTGGAAAATGATGTTAAAGTAAGAATTGCACTCCTGTCCCTCTGGCCTTCCATCTCTCC
Y
GCCCTTGTGCCCCACAACCTGGCCAACAGTACTGGAAGAAACTGGACACAGTCACCAGCATCCCAGGGGAGGGCAAAACAGCCATGTCGTGCCCTGATGA
Celera SNP ID:            hCV25624062
SNP Position Transcript:  1043
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,26|T,14)   total(C,56|T,22)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1322, None



Gene Number:                 242
Celera Gene:                 hCG39378 - 30000023325762
Celera Transcript:           hCT2280518 - 30000023325763
Public Transcript Accession: NM_004079
Celera Protein:              hCP1859260 - 30000023325757
Public Protein Accession:    NP_004070
Gene Symbol:                 CTSS
Protein Name:                cathepsin S;MGC3886
Celera Genomic Axis:         GA_x5YUV32VSLS(10623850..10656987)
Chromosome:                  Chr1
OMIM number:                 116845
OMIM Information:            CATHEPSIN S;CTSS


Transcript Sequence (SEQ ID NO:626):
GACAAGGGCTCTTCTTGATGGCTTACTGTATCCACTTTGTCCCCAAGACCATAGGGAAATGACTAGAGGTGACTGTACTAGCTAGATTTTAAATGAAACT
GAAATGAAAGTTCACTTCCTCATTTTGAGTACCTCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCT
TAGAAGAGAGCCCACTAATTCAAGGACTCTTACYGTRGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGYGCTCTTGGTGTGCTCCTCT
GCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAGGAAAAGAATGAAGAAGCAG
TACGACGTCTCATCTGGGAAAAGAATCTAAAGTTTGTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCT
GGGAGACATGACCAGTGAAGAAGTGATGTCTTTGAYGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATYGG
ATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGG
CCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTGWCTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTG
CAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGATAACAAGGGCATCGACTCAGACGCTTCCTATCCCTACAAAGCCATGGTGTCTACTATG
AACCATCCTGTACTCAGAATGTGAATCATGGTGTACTTGTGGTTGGCTATGGTGATCTTSATGGGAAAGAATACTGGCTTGTGAAAAACAGCTGGGGCCA
CAACTTTGGTGAAGAAGGATATATTCGGATGGCAAGAAATAAAGGAAATCATTGTGGGATTGCTAGCTTTCCCTCTTACCCAGAAATCTAGAGGATCTCT
CCTTTTTATAACAAATCAAGAAATATGAAGCACTTTCTCTTAACTTAATTTTTCCTGCTGTATCCAGAAGAAATAATTGTGTCATGATTAATGTGTATTT
ACTGTACTAATTAGAAAATATAGTTTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTGGKAGGCCAAGGCAGGCATATCAACTTGAGGCC
AGGAGTTAAAGAGCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCACGGTGGTGCATGCCTGTAATCCCAGCT
ACTTGGGAGGCTGAGGCACGAGATTCCTTGAACCCAAGAGGTTGAGGCTATGTTGAGCTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGGA
GACTCTGTTTCAAAAAAACAGAAAAGAAAATATAGTTTGATTCTTCATTTTTTTAAATTTGCAAATCTCAGGATAAAGTTTGCTAAGTAAATTAGTAATG
TACTATAGATATAACTGTACAAAAATTGTTCAACCTAAAACAATCTGTAATTGCTTATTGTTTTATTGTATACTCTTTGTCTTTTTAAGACCCCTAATAG
CCTTTTGTAACTTGATGGCTTAAAAATACTTAATAAATCTGCCATTTCAAATTTC

Protein Sequence    (SEQ ID NO:1323):
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQ
WQRNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDS
DASYPYKAMVSTMNHPVLRM


SNP Information

Context             (SEQ ID NO:10999):
GAAATAATTGTGTCATGATTAATGTGTATTTACTGTACTAATTAGAAAATATAGTTTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTGG
K
AGGCCAAGGCAGGCATATCAACTTGAGGCCAGGAGTTAAAGAGCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGA
Celera SNP ID:            hCV15746629
SNP Position Transcript:  1270
SNP Source:               Applera
Population(Allele,Count): african american(G,39|T,1)   caucasian(G,39|T,1)   total(G,78|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1323, None



Context             (SEQ ID NO:11000):
CCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGATGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAAT
Y
GGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGG
Celera SNP ID:            hCV1789791
SNP Position Transcript:  598
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,17)   caucasian(C,28|T,12)   total(C,51|T,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1323, 113, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): Caucasian(T,96|C,214)   Chinese(T,21|C,37)   Japanese(T,6|C,12)   African(T,32|C,68)   total(C,331|T,155)   no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1323, 113, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:11001):
GTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGA
Y
GAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATCGGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGG
Celera SNP ID:            hCV26673024
SNP Position Transcript:  536
SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1323, 92, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:11002):
TCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTAC
Y
GTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGG
Celera SNP ID:            hCV27511903
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1323, None   



Context             (SEQ ID NO:11003):
TACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGGCCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTG
W
CTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTGCAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGA
Celera SNP ID:            hCV26673026
SNP Position Transcript:  742
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1323, 161, (T,ACT)   (S,TCT)      



Context             (SEQ ID NO:11004):
TGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGT
R
GGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATC
Celera SNP ID:            hCV26673019
SNP Position Transcript:  237
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(A,170|G,201)   Inuit(A,242|G,319)      total(G,520|A,412) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1323, None   



Context             (SEQ ID NO:11005):
CAGACGCTTCCTATCCCTACAAAGCCATGGTGTCTACTATGAACCATCCTGTACTCAGAATGTGAATCATGGTGTACTTGTGGTTGGCTATGGTGATCTT
S
ATGGGAAAGAATACTGGCTTGTGAAAAACAGCTGGGGCCACAACTTTGGTGAAGAAGGATATATTCGGATGGCAAGAAATAAAGGAAATCATTGTGGGAT
Celera SNP ID:            hCV26673027
SNP Position Transcript:  960
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1323, 233, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:11006):
TCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTG
Y
GCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAG
Celera SNP ID:            hCV15746640
SNP Position Transcript:  281
SNP Source:               Applera
Population(Allele,Count): african american(T,40)   caucasian(C,1|T,39)   total(C,1|T,79)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1323, 7, (A,GCG)   (V,GTG)   



Gene Number:                 242
Celera Gene:                 hCG39378 - 30000023325762
Celera Transcript:           hCT30629 - 30000023325788
Public Transcript Accession: NM_004079
Celera Protein:              hCP49339 - 197000069372392
Public Protein Accession:    NP_004070
Gene Symbol:                 CTSS
Protein Name:                cathepsin S;MGC3886
Celera Genomic Axis:         GA_x5YUV32VSLS(10623850..10659294)
Chromosome:                  Chr1
OMIM number:                 116845
OMIM Information:            CATHEPSIN S;CTSS


Transcript Sequence (SEQ ID NO:627):
GACAAGGGCTCTTCTTGATGGCTTACTGTATCCACTTTGTCCCCAAGACCATAGGGAAATGACTAGAGGTGACTGTACTAGCTAGATTTTAAATGAAACT
GAAATGAAAGTTCACTTCCTCATTTTGAGTACCTCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCT
TAGAAGAGAGCCCACTAATTCAAGGACTCTTACYGTRGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGYGCTCTTGGTGTGCTCCTCT
GCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAGGAAAAGAATGAAGAAGCAG
TACGACGTCTCATCTGGGAAAAGAATCTAAAGTTTGTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCT
GGGAGACATGACCAGTGAAGAAGTGATGTCTTTGAYGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATYGG
ATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGG
CCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTGWCTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTG
CAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGATAACAAGGGCATCGACTCAGACGCTTCCTATCCCTACAAAGCCATGGATCAGAAATGT
CAATATGACTCAAAATATCGTGCTGCCACATGTTCAAAGTACACTGAACTTCCTTATGGSAGAGAAGATGTCCTGAAAGAAGCTGTGGCCAATAAAGGCC
CAGTGTCTGTTGGTGTAGATGCGCGTCATCCTTCTTTCTTCCTCTACAGAAGTGGTGTCTACTATGAACCATCCTGTACTCAGAATGTGAATCATGGTGT
ACTTGTGGTTGGCTATGGTGATCTTAATGGGAAAGAATACTGGCTTGTKAAAAACAGCTGGGGCCACAACTTTGGTGAAGAAGGATATATTCGGATGGCA
AGAAATAAAGGAAATCATTGTGGGATTGCTAGCTTTCCCTCTTACCCAGAAATCTAGAGGATCTCTCCTTTTTATAACAAATCAAGAAATATGAAGCACT
TTCTCTTAACTTAATTTTTCCTGCTGTATCCAGAAGAAATAATTGTGTCATGATTAATGTGTATTTACTGTACTAATTAGAAAATATAGTTTGAGGCCGG
GCACKGTGGCTCACGCCTGTAATCCCAGTACTTGGGAGGCCAAGGCAGGCATATCAACTTGAGGCCAGGAGTTAAAGAGCAGCCTGGCTAACATGGTGAA
RCCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCACGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGATTCCTTGAACC
CAAGAGGTTGAGGCTATGTTGAGCTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGGAGACTCTGTTTCAAAAAAACAGAAAAGAAAATATA
GTTTGATTCTTCATTTTTTTAAATTTGCAAATCTCAGGATAAAGTTTGCTAAGTAAATTAGTAATGTACTATAGATATAACTGTACAAAAATTGTTCAAC
CTAAAACAATCTGTAATTGCTTATTGTTTTATTGTATACTCTTTGTCTTTTTAAGACCCCTAATAGCCTTTTGTAACTTGATGGCTTAAAAATACTTAAT
AAATCTGCCATTTCAAATTTCTATCATTGCCACATACCATTCTTATTCCTAGGCAACTATTAATAATCTATCCTGAGAATATTAATTGTGGTATTCTGGT
GATGGGGTTTAGCAACTTTGATGGAAGAAAATATTAGGCTATAAATGTCCTAAGGACTCAGATTGTATCTTTGTACAGAAGAGGATTCAAAACGCCACGT
GTAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAAGTAGGAGGATCGTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGTGAGA
CCTTGTCTCCACAAAAATAAAAAAGAAACTATCCAGGAGTGGTGGTGTGTGCCTGTGGTCCCTGCTATGCAGATGTCTAAGACAGGAGGATCACAAGAGC
CCAGGAGGTTGAGAATGCAGTGAGCTTGTAATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAAAAAAGAGGATTCAACACAT
ATTTTTATATTATGTTAAAGTAAAGAAATGCATAAAAGACAAGCACTTTGGAAGAATTATTTTAATGATCAACAATTTAATGTATTAGTCCAAATTATTT
TTACGTAGTCATCAACAATTTGACCAGGGCCTTTATTTGGCAAATAACTGAGCCAACCAGAATAAAATAACCAATACTCCACTGCTCATATTTTTATCTA
ATTCAGATGGATCTTCCTTACAACTGCTCTAGATTAGTAGATGCATCTAAGCAGGCAGCAGGAACTTTAAATTTTTTAAGTTCATGTCTATGACATGAAC
AATGTGTGGGATAATGTCATTAATATATCCTAAATTAACCTAAACGTATTTCACTAACTCTGGCTCCTTCTCCATAAAGCACATTTTAAGGAACAAGAAT
TGCTAAATATAAAAACATAAATAATACCATAATACATGGCTATCATCAAAAGTGTATAGAATATTATAGTTTAAAAGTATTTAGTTGATTACTTTTCAGT
TTTGTTTTGTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGTTCACTGCAACTTCTGCCTCCCGAGTTCAAGC
GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTATAGGCGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAAAGACAGGGTTTTGCCACA
TTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCCCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGAGCCCAGCCTAC
TTTTCAGTTTTTAACATAATTTTTGTTTTATCCACAACTTTTCAAGTATTGAAAGTAGAATAAAAACATGGGTTCTTAGTCTTTAGCTATCTGTTAAAGC
CTATGAATGCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATACAGTTATTAAAATGTTAAAA
GATAAGTTTGTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAATAGTGATAAGCATAATGAAA
ATAGATGCAAAAAACTAATGTGATATGAAAATATCTGGGTTTTTCTTTTGATGATGAAGTATTGCTAATATTACCGTGGTTTATGAACTATGTTCAGAAT
TGAAGAAAATCCTAACTTTCAGTTAGAGGTTAGTGACGGGGTTCAGGACACCCTACACAAAATACAGCACTTTGACATATTGAATATTTTAAGCTGAAGG
CATTTGAGGAAATTGCAGAAGCAGGAAGGTGACTCTGACCTTCTGCCTGCTGTTCTCCCCAGAAGCAGCCATAAAACCTGGGAAGGATTTTCTGACCTTC
CCCTGAAGTAGATCATAAGACTGTCATGTAAGAGGTGCTCTCCTGGCACCCAGAGAAAAGGAGCATCCTTACCTCCAAAAGCACAGGGACACAAAGAGGA
ATCTAAACAAACAGGCCTCTCAGTTTCCCCCAGTTTATTACATTTAGCTTGTTCACACTTTGCCCTATGACATTTCTACATCACTGGCTGCTCTTCATCA
AACCTACTATAAAAAACATTCAAGTTCAACTGTTTCTTTGGGCCTTTATTTCCTTATGGAGCCCCTCGTGTCGTGTAAAACTTATATTAAATAAATGTGC
ATGCTTTTCTCTTGCTAATCTCTCTTTTGTTATAGAGATCTCAGCCCTAAACCTAGGATGGATAGAAGGAAACATATGTTCTCCCCTACATTAGTAAAAA
TAAAAATGGAATTTTTTACCCATACAAA

Protein Sequence    (SEQ ID NO:1324):
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQ
WQRNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDS
DASYPYKAMDQKCQYDSKYRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNGKEYWLVKNSW
GHNFGEEGYIRMARNKGNHCGIASFPSYPEI


SNP Information

Context             (SEQ ID NO:11007):
GAAGTGGTGTCTACTATGAACCATCCTGTACTCAGAATGTGAATCATGGTGTACTTGTGGTTGGCTATGGTGATCTTAATGGGAAAGAATACTGGCTTGT
K
AAAAACAGCTGGGGCCACAACTTTGGTGAAGAAGGATATATTCGGATGGCAAGAAATAAAGGAAATCATTGTGGGATTGCTAGCTTTCCCTCTTACCCAG
Celera SNP ID:            hCV15746629
SNP Position Transcript:  1149
SNP Source:               Applera
Population(Allele,Count): african american(G,39|T,1)   caucasian(G,39|T,1)   total(G,78|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1324, 296, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:11008):
CTTAACTTAATTTTTCCTGCTGTATCCAGAAGAAATAATTGTGTCATGATTAATGTGTATTTACTGTACTAATTAGAAAATATAGTTTGAGGCCGGGCAC
K
GTGGCTCACGCCTGTAATCCCAGTACTTGGGAGGCCAAGGCAGGCATATCAACTTGAGGCCAGGAGTTAAAGAGCAGCCTGGCTAACATGGTGAAACCCC
Celera SNP ID:            hCV8690551
SNP Position Transcript:  1405
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1324, None   



Context             (SEQ ID NO:11009):
CCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGATGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAAT
Y
GGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGG
Celera SNP ID:            hCV1789791
SNP Position Transcript:  598
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,17)   caucasian(C,28|T,12)   total(C,51|T,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1324, 113, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): Caucasian(T,96|C,214)   Chinese(T,21|C,37)   Japanese(T,6|C,12)   African(T,32|C,68)   total(C,331|T,155)   no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1324, 113, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:11010):
GTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGA
Y
GAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATCGGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGG
Celera SNP ID:            hCV26673024
SNP Position Transcript:  536
SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1324, 92, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:11011):
GCACGGTGGCTCACGCCTGTAATCCCAGTACTTGGGAGGCCAAGGCAGGCATATCAACTTGAGGCCAGGAGTTAAAGAGCAGCCTGGCTAACATGGTGAA
R
CCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCACGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGATTCCTTGAACCC
Celera SNP ID:            hCV27469873
SNP Position Transcript:  1501
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1324, None   



Context             (SEQ ID NO:11012):
TCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTAC
Y
GTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGG
Celera SNP ID:            hCV27511903
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1324, None   



Context             (SEQ ID NO:11013):
TACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGGCCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTG
W
CTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTGCAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGA
Celera SNP ID:            hCV26673026
SNP Position Transcript:  742
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1324, 161, (T,ACT)   (S,TCT)      



Context             (SEQ ID NO:11014):
CAGACGCTTCCTATCCCTACAAAGCCATGGATCAGAAATGTCAATATGACTCAAAATATCGTGCTGCCACATGTTCAAAGTACACTGAACTTCCTTATGG
S
AGAGAAGATGTCCTGAAAGAAGCTGTGGCCAATAAAGGCCCAGTGTCTGTTGGTGTAGATGCGCGTCATCCTTCTTTCTTCCTCTACAGAAGTGGTGTCT
Celera SNP ID:            hCV26673027
SNP Position Transcript:  960
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1324, 233, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:11015):
TGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGT
R
GGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATC
Celera SNP ID:            hCV26673019
SNP Position Transcript:  237
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(A,170|G,201)   Inuit(A,242|G,319)      total(G,520|A,412) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1324, None   



Context             (SEQ ID NO:11016):
TCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTG
Y
GCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAG
Celera SNP ID:            hCV15746640
SNP Position Transcript:  281
SNP Source:               Applera
Population(Allele,Count): african american(T,40)   caucasian(C,1|T,39)   total(C,1|T,79)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1324, 7, (A,GCG)   (V,GTG)   



Gene Number:                 242
Celera Gene:                 hCG39378 - 30000023325762
Celera Transcript:           hCT2280516 - 30000023325759
Public Transcript Accession: NM_004079
Celera Protein:              hCP1859259 - 197000069372393
Public Protein Accession:    NP_004070
Gene Symbol:                 CTSS
Protein Name:                cathepsin S;MGC3886
Celera Genomic Axis:         GA_x5YUV32VSLS(10623850..10658722)
Chromosome:                  Chr1
OMIM number:                 116845
OMIM Information:            CATHEPSIN S;CTSS


Transcript Sequence (SEQ ID NO:628):
GACAAGGGCTCTTCTTGATGGCTTACTGTATCCACTTTGTCCCCAAGACCATAGGGAAATGACTAGAGGTGACTGTACTAGCTAGATTTTAAATGAAACT
GAAATGAAAGTTCACTTCCTCATTTTGAGTACCTCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCT
TAGAAGAGAGCCCACTAATTCAAGGACTCTTACYGTRGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGYGCTCTTGGTGTGCTCCTCT
GCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAGGAAAAGAATGAAGAAGCAG
TACGACGTCTCATCTGGGAAAAGAATCTAAAGTTTGTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCT
GGGAGACATGACCAGTGAAGAAGTGATGTCTTTGAYGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATYGG
ATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGG
CCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTGWCTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTG
CAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGATAACAAGGGCATCGACTCAGACGCTTCCTATCCCTACAAAGCCATGGATCAGAAATGT
CAATATGACTCAAAATATCGTGCTGCCACATGTTCAAAGTACACTGAACTTCCTTATGGSAGAGAAGATGTCCTGAAAGAAGCTGTGGCCAATAAAGGCC
CAGTGTCTGTTGGTGTAGATGCGCGTCATCCTTCTTTCTTCCTCTACAGAAGTGGTGTCTACTATGAACCATCCTGTACTCAGAATGTGAATCATGGTGT
ACTTGTGGTTGGCTATGGTGATCTTAATGGGAAAGAATACTGGCTTGTKAAAAACAGCTGGGGCCACAACTTTGGTGAAGAAGGATATATTCGGATGGCA
AGAAATAAAGGAAATCATTGTGGGATTGCTAGCTTTCCCTCTTACCCAGAAATCTAGAGGATCTCTCCTTTTTATAACAAATCAAGAAATATGAAGCACT
TTCTCTTAACTTAATTTTTCCTGCTGTATCCAGAAGAAATAATTGTGTCATGATTAATGTGTATTTACTGTACTAATTAGAAAATATAGTTTGAGGCGTG
AGCCACTGAGCCCAGCCTACTTTTCAGTTTTTAACATAATTTTTGTTTTRTCCACAACTTTTCAAGTATTGAAAGTAGAATAAAAACATGGGTTCTTAGT
CTTTAGCTATCTGTTAAAGCCTATGAATGCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATA
CAGTTATTAAAATGTTAAAAGATAAGTTTGTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAA
TAGTGATAAGCATAATGAAAATAGATGCAAAAAACTAATGTGATATGAAAATATCTGGGTTTTTCTTTTGATGATGAAGTATTGCTAATATTACCGTGGT
TTATGAACTATGTTCAGAATTGAAGAAAATCCTAACTTTCAGTTAGAGGTTAGTGACGGGGTTCAGGACACCCTAC

Protein Sequence    (SEQ ID NO:1325):
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQ
WQRNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDS
DASYPYKAMDQKCQYDSKYRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNGKEYWLVKNSW
GHNFGEEGYIRMARNKGNHCGIASFPSYPEI


SNP Information

Context             (SEQ ID NO:11017):
GAAGTGGTGTCTACTATGAACCATCCTGTACTCAGAATGTGAATCATGGTGTACTTGTGGTTGGCTATGGTGATCTTAATGGGAAAGAATACTGGCTTGT
K
AAAAACAGCTGGGGCCACAACTTTGGTGAAGAAGGATATATTCGGATGGCAAGAAATAAAGGAAATCATTGTGGGATTGCTAGCTTTCCCTCTTACCCAG
Celera SNP ID:            hCV15746629
SNP Position Transcript:  1149
SNP Source:               Applera
Population(Allele,Count): african american(G,39|T,1)   caucasian(G,39|T,1)   total(G,78|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1325, 296, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:11018):
CCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGATGAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAAT
Y
GGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGGTGTGTTACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGG
Celera SNP ID:            hCV1789791
SNP Position Transcript:  598
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,17)   caucasian(C,28|T,12)   total(C,51|T,29)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1325, 113, (R,CGG)   (W,TGG)   

SNP Source:               Celera
Population(Allele,Count): Caucasian(T,96|C,214)   Chinese(T,21|C,37)   Japanese(T,6|C,12)   African(T,32|C,68)   total(C,331|T,155)   no_pop(T,1|C,7)   total(C,7|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1325, 113, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:11019):
ATGATTAATGTGTATTTACTGTACTAATTAGAAAATATAGTTTGAGGCGTGAGCCACTGAGCCCAGCCTACTTTTCAGTTTTTAACATAATTTTTGTTTT
R
TCCACAACTTTTCAAGTATTGAAAGTAGAATAAAAACATGGGTTCTTAGTCTTTAGCTATCTGTTAAAGCCTATGAATGCCTTCTTAAAATCATGTTTTT
Celera SNP ID:            hCV1789800
SNP Position Transcript:  1450
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,7)   total(G,2|A,7) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11020):
GTGATGCTTCACAACCTGGAGCATTCAATGGGAATGCACTCATACGATCTGGGCATGAACCACCTGGGAGACATGACCAGTGAAGAAGTGATGTCTTTGA
Y
GAGTTCCCTGAGAGTTCCCAGCCAGTGGCAGAGAAATATCACATATAAGTCAAACCCTAATCGGATATTGCCTGATTCTGTGGACTGGAGAGAGAAAGGG
Celera SNP ID:            hCV26673024
SNP Position Transcript:  536
SNP Source:               HGBASE
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1325, 92, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:11021):
TCATGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTAC
Y
GTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGG
Celera SNP ID:            hCV27511903
SNP Position Transcript:  234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11022):
AATGCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATACAGTTATTAAAATGTTAAAAGATAA
G
TTTGTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAATAGTGATAAGCATAATGAAAATAGAT
Celera SNP ID:            hCV26673034
SNP Position Transcript:  1626
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|G,7)   total(G,7|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11023):
TACTGAAGTGAAATATCAAGGTTCTTGTGGTGCTTGCTGGGCTTTCAGTGCTGTGGGGGCCCTGGAAGCACAGCTGAAGCTGAAAACAGGAAAGCTGGTG
W
CTCTCAGTGCCCAGAACCTGGTGGATTGCTCAACTGAAAAATATGGAAACAAAGGCTGCAATGGTGGCTTCATGACAACGGCTTTCCAGTACATCATTGA
Celera SNP ID:            hCV26673026
SNP Position Transcript:  742
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1325, 161, (T,ACT)   (S,TCT)      



Context             (SEQ ID NO:11024):
ATGCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATACAGTTATTAAAATGTTAAAAGATAAG
T
TTGTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAATAGTGATAAGCATAATGAAAATAGATG
Celera SNP ID:            hCV26673035
SNP Position Transcript:  1627
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,7)   total(T,7|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11025):
CAGACGCTTCCTATCCCTACAAAGCCATGGATCAGAAATGTCAATATGACTCAAAATATCGTGCTGCCACATGTTCAAAGTACACTGAACTTCCTTATGG
S
AGAGAAGATGTCCTGAAAGAAGCTGTGGCCAATAAAGGCCCAGTGTCTGTTGGTGTAGATGCGCGTCATCCTTCTTTCTTCCTCTACAGAAGTGGTGTCT
Celera SNP ID:            hCV26673027
SNP Position Transcript:  960
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1325, 233, (G,GGC)   (G,GGG)      



Context             (SEQ ID NO:11026):
TGTGACAAGTTCCAATTTCTTTTCAAGTCAATTGAACTGAAATCTCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGT
R
GGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTGTGCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATC
Celera SNP ID:            hCV26673019
SNP Position Transcript:  237
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Caucasian(A,170|G,201)   Inuit(A,242|G,319)      total(G,520|A,412) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11027):
TGCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATACAGTTATTAAAATGTTAAAAGATAAGT
T
TGTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAATAGTGATAAGCATAATGAAAATAGATGC
Celera SNP ID:            hCV26673036
SNP Position Transcript:  1628
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,7)   total(T,7|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11028):
GCCTTCTTAAAATCATGTTTTTAAATGCATAAAATATATAGGATTACAAAGGAATCTAATTATATCGAAATACAGTTATTAAAATGTTAAAAGATAAGTT
T
GTTATATATTAATATGCATGCTTCTTTATAAATGCATTAAATAAGAGTTAATAGCTATCCTAAATTTGAAATAGTGATAAGCATAATGAAAATAGATGCA
Celera SNP ID:            hCV26673037
SNP Position Transcript:  1629
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,7)   total(T,7|-,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1325, None   



Context             (SEQ ID NO:11029):
TCCTTGTTGCTTTGAAATCTTAGAAGAGAGCCCACTAATTCAAGGACTCTTACTGTAGGAGCAACTGCTGGTTCTATCACAATGAAACGGCTGGTTTGTG
Y
GCTCTTGGTGTGCTCCTCTGCAGTGGCACAGTTGCATAAAGATCCTACCCTGGATCACCACTGGCATCTCTGGAAGAAAACCTATGGCAAACAATACAAG
Celera SNP ID:            hCV15746640
SNP Position Transcript:  281
SNP Source:               Applera
Population(Allele,Count): african american(T,40)   caucasian(C,1|T,39)   total(C,1|T,79)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1325, 7, (A,GCG)   (V,GTG)   



Gene Number:                 243
Celera Gene:                 hCG39406 - 116000144867171
Celera Transcript:           hCT30657 - 116000144867172
Public Transcript Accession: NM_014475
Celera Protein:              hCP49203 - 197000069372024
Public Protein Accession:    NP_055290
Gene Symbol:                 DHDH
Protein Name:                dihydrodiol dehydrogenase (dimeric);HUM2DD
Celera Genomic Axis:         GA_x5YUV32VSLL(977657..988946)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:629):
CCTGGAGGGACCGAAGGTGCCGAGGGCTCCGCATCGCAACCAWGSCGCTGCGCTGGGGCATCGTGTCTGTCGGCCTCATCTCCAGCGACTTCACAGCCGT
GCTGCAGACGCTGCCTCGCTCTGAGCACCAGGTGGTGGCGGTGGCGGCCCGCGATCTGAGCCGTGCGAAGGAGTTTGCACAGAAACACGACATCCCCAAG
GCCTACGGCTCCTATGAGGAGCTGGCCAAGGACCCGARCGTGGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTGATGCTGTGCT
TGGCGGCGGGCAAGGCSRTTCTGTGCGAGAAGCCCACGGGCGTGAACGCRGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAGCCCTCTTCCT
TATGGAGGCCATCTGGACCCGCTTCTTTCCTGCCTCYGAGGCTCTGAGGTCTGTTTTGGCCCAGGGAACTCTAGGASACCTCCGGGTGGCTCGGGCAGAA
TTTGGGAAGAATCTCATCCACGTTCCCCGGGCCGTAGACCGGGCCCAGGCTGGGGGGGCCCTGCTGGACATCGGCATCTACTGTGTCCAGTTCACCTCCA
TGGTCTTTGGAGGGCAGAAGCCAGAGAAGATTTCYGTCGTGGGAAGGCGTCATGAAACAGGTGTGGATGACACTGTCACGGTGCTCCTGCAGTACCCAGG
GGAGGTCCATGGCAGCTTCACCTGCAGCATCACCGTGYAGCTCTCCAACACGGCCTCCGTGAGCGGCACCAAGGGCATGGYACAGCTCCTCAACCCCTGC
TGGTGCCCGACCGAGCTGGTGGTGAAGGGGGAGCATAAGGAGTTCCCGCTGCCCCCAGTCCCAAAGGACTGCRATTTTGACAACRGGGCAGGCATGAGTT
ATGAGGCCAAGCACGTCTGGGAGTGCCTACGCAAGGGTATGAAGGAAAGTCCTGTGATTCYCCTGTCGGAAAGTGAGCTCCTGGCTGACATCCTTGAAGA
GGTGAGGAAGGCCATTGGAGTCACCTTCCCCCAAGACAAACGCTGATGTATCCCCGAATAAATAAAGACATCTTACATCTTC

Protein Sequence    (SEQ ID NO:1326):
MALRWGIVSVGLISSDFTAVLQTLPRSEHQVVAVAARDLSRAKEFAQKHDIPKAYGSYEELAKDPSVEVAYIGTQHPQHKAAVMLCLAAGKAVLCEKPTG
VNAAEVREMVAEARSRALFLMEAIWTRFFPASEALRSVLAQGTLGDLRVARAEFGKNLIHVPRAVDRAQAGGALLDIGIYCVQFTSMVFGGQKPEKISVV
GRRHETGVDDTVTVLLQYPGEVHGSFTCSITVQLSNTASVSGTKGMVQLLNPCWCPTELVVKGEHKEFPLPPVPKDCNFDNGAGMSYEAKHVWECLRKGM
KESPVIPLSESELLADILEEVRKAIGVTFPQDKR


SNP Information

Context             (SEQ ID NO:11030):
CCTGGAGGGACCGAAGGTGCCGAGGGCTCCGCATCGCAACCA
W
GGCGCTGCGCTGGGGCATCGTGTCTGTCGGCCTCATCTCCAGCGACTTCACAGCCGTGCTGCAGACGCTGCCTCGCTCTGAGCACCAGGTGGTGGCGGTG
Celera SNP ID:            hCV25756495
SNP Position Transcript:  43
SNP Source:               Applera
Population(Allele,Count): african american(T,36)   caucasian(A,1|T,35)   total(A,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 1, (K,AAG)   (M,ATG)   



Context             (SEQ ID NO:11031):
GGCCCGATCCCGAGCCCTCTTCCTTATGGAGGCCATCTGGACCCGCTTCTTTCCTGCCTCCGAGGCTCTGAGGTCTGTTTTGGCCCAGGGAACTCTAGGA
S
ACCTCCGGGTGGCTCGGGCAGAATTTGGGAAGAATCTCATCCACGTTCCCCGGGCCGTAGACCGGGCCCAGGCTGGGGGGGCCCTGCTGGACATCGGCAT
Celera SNP ID:            hCV25757831
SNP Position Transcript:  477
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,29)   caucasian(G,40)   total(C,1|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 146, (H,CAC)   (D,GAC)   



Context             (SEQ ID NO:11032):
TAGACCGGGCCCAGGCTGGGGGGGCCCTGCTGGACATCGGCATCTACTGTGTCCAGTTCACCTCCATGGTCTTTGGAGGGCAGAAGCCAGAGAAGATTTC
Y
GTCGTGGGAAGGCGTCATGAAACAGGTGTGGATGACACTGTCACGGTGCTCCTGCAGTACCCAGGGGAGGTCCATGGCAGCTTCACCTGCAGCATCACCG
Celera SNP ID:            hCV15959005
SNP Position Transcript:  635
SNP Source:               Applera
Population(Allele,Count): african american(C,14|T,14)   caucasian(C,3|T,33)   total(C,17|T,47)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 198, (S,TCC)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,662|C,819)   total(C,819|T,662) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 198, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:11033):
CGTGGGAAGGCGTCATGAAACAGGTGTGGATGACACTGTCACGGTGCTCCTGCAGTACCCAGGGGAGGTCCATGGCAGCTTCACCTGCAGCATCACCGTG
Y
AGCTCTCCAACACGGCCTCCGTGAGCGGCACCAAGGGCATGGTACAGCTCCTCAACCCCTGCTGGTGCCCGACCGAGCTGGTGGTGAAGGGGGAGCATAA
Celera SNP ID:            hCV25754071
SNP Position Transcript:  738
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,5)   caucasian(C,36|T,2)   total(C,67|T,7)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 233, (Q,CAG)   (X,TAG)   



Context             (SEQ ID NO:11034):
GCGGTGGCGGCCCGCGATCTGAGCCGTGCGAAGGAGTTTGCACAGAAACACGACATCCCCAAGGCCTACGGCTCCTATGAGGAGCTGGCCAAGGACCCGA
R
CGTGGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTGATGCTGTGCTTGGCGGCGGGCAAGGCCGTTCTGTGCGAGAAGCCCACG
Celera SNP ID:            hCV3170900
SNP Position Transcript:  238
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,9)   caucasian(A,10|G,30)   total(A,37|G,39)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 66, (N,AAC)   (S,AGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,9)      total(G,9|A,2) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 66, (N,AAC)   (S,AGC)      



Context             (SEQ ID NO:11035):
GGGCATGGTACAGCTCCTCAACCCCTGCTGGTGCCCGACCGAGCTGGTGGTGAAGGGGGAGCATAAGGAGTTCCCGCTGCCCCCAGTCCCAAAGGACTGC
R
ATTTTGACAACGGGGCAGGCATGAGTTATGAGGCCAAGCACGTCTGGGAGTGCCTACGCAAGGGTATGAAGGAAAGTCCTGTGATTCCCCTGTCGGAAAG
Celera SNP ID:            hCV25758979
SNP Position Transcript:  873
SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,1)   caucasian(A,32)   total(A,65|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 278, (N,AAT)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,36)   total(A,71|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 278, (N,AAT)   (D,GAT)   



Context             (SEQ ID NO:11036):
GGAGCTGGCCAAGGACCCGAGCGTGGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTGATGCTGTGCTTGGCGGCGGGCAAGGCC
R
TTCTGTGCGAGAAGCCCACGGGCGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAGCCCTCTTCCTTATGGAGGCCATCTGGAC
Celera SNP ID:            hCV25756292
SNP Position Transcript:  318
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 93, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:11037):
CCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTGATGCTGTGCTTGGCGGCGGGCAAGGCCGTTCTGTGCGAGAAGCCCACGGGCGTGAACGC
R
GCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAGCCCTCTTCCTTATGGAGGCCATCTGGACCCGCTTCTTTCCTGCCTCCGAGGCTCTGAGGT
Celera SNP ID:            hCV25756357
SNP Position Transcript:  350
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,35)   caucasian(G,38)   total(A,3|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 103, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:11038):
AGGAGCTGGCCAAGGACCCGAGCGTGGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTGATGCTGTGCTTGGCGGCGGGCAAGGC
S
GTTCTGTGCGAGAAGCCCACGGGCGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAGCCCTCTTCCTTATGGAGGCCATCTGGA
Celera SNP ID:            hCV25756294
SNP Position Transcript:  317
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,38)   total(C,74|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 92, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:11039):
GCTCCTCAACCCCTGCTGGTGCCCGACCGAGCTGGTGGTGAAGGGGGAGCATAAGGAGTTCCCGCTGCCCCCAGTCCCAAAGGACTGCAATTTTGACAAC
R
GGGCAGGCATGAGTTATGAGGCCAAGCACGTCTGGGAGTGCCTACGCAAGGGTATGAAGGAAAGTCCTGTGATTCCCCTGTCGGAAAGTGAGCTCCTGGC
Celera SNP ID:            hCV25759010
SNP Position Transcript:  885
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,2|G,34)   total(A,5|G,65)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 282, (R,AGG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,29)   caucasian(A,2|G,32)   total(A,7|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 282, (R,AGG)   (G,GGG)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(A,102|G,1375)   total(G,1375|A,102) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 282, (R,AGG)   (G,GGG)      



Context             (SEQ ID NO:11040):
CCTGGAGGGACCGAAGGTGCCGAGGGCTCCGCATCGCAACCATG
S
CGCTGCGCTGGGGCATCGTGTCTGTCGGCCTCATCTCCAGCGACTTCACAGCCGTGCTGCAGACGCTGCCTCGCTCTGAGCACCAGGTGGTGGCGGTGGC
Celera SNP ID:            hCV3170896
SNP Position Transcript:  45
SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,24)   caucasian(G,34)   total(C,6|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 2, (P,CCG)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,6|G,28)   caucasian(G,36)   total(C,6|G,64)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 2, (P,CCG)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,11)   total(G,11|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 2, (P,CCG)   (A,GCG)      



Context             (SEQ ID NO:11041):
GTGCTCCTGCAGTACCCAGGGGAGGTCCATGGCAGCTTCACCTGCAGCATCACCGTGCAGCTCTCCAACACGGCCTCCGTGAGCGGCACCAAGGGCATGG
Y
ACAGCTCCTCAACCCCTGCTGGTGCCCGACCGAGCTGGTGGTGAAGGGGGAGCATAAGGAGTTCCCGCTGCCCCCAGTCCCAAAGGACTGCAATTTTGAC
Celera SNP ID:            hCV3170906
SNP Position Transcript:  781
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,17)   caucasian(C,7|T,31)   total(C,26|T,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 247, (A,GCA)   (V,GTA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 247, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:11042):
CCAAAGGACTGCAATTTTGACAACGGGGCAGGCATGAGTTATGAGGCCAAGCACGTCTGGGAGTGCCTACGCAAGGGTATGAAGGAAAGTCCTGTGATTC
Y
CCTGTCGGAAAGTGAGCTCCTGGCTGACATCCTTGAAGAGGTGAGGAAGGCCATTGGAGTCACCTTCCCCCAAGACAAACGCTGATGTATCCCCGAATAA
Celera SNP ID:            hCV11713076
SNP Position Transcript:  961
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,10)   total(C,10|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1326, 307, (P,CCC)   (L,CTC)      



Context             (SEQ ID NO:11043):
CGGGCGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAGCCCTCTTCCTTATGGAGGCCATCTGGACCCGCTTCTTTCCTGCCTC
Y
GAGGCTCTGAGGTCTGTTTTGGCCCAGGGAACTCTAGGAGACCTCCGGGTGGCTCGGGCAGAATTTGGGAAGAATCTCATCCACGTTCCCCGGGCCGTAG
Celera SNP ID:            hCV15958996
SNP Position Transcript:  437
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,37|T,1)   total(C,70|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 132, (S,TCC)   (S,TCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1326, 132, (S,TCC)   (S,TCT)      



Gene Number:                 244
Celera Gene:                 hCG39736 - 66000115828353
Celera Transcript:           hCT30988 - 66000115828354
Public Transcript Accession: NM_020789
Celera Protein:              hCP49535 - 197000069372307
Public Protein Accession:    NP_065840
Gene Symbol:                 IGSF9
Protein Name:                immunoglobulin superfamily, member 9;KIAA1355;Nrt1
Celera Genomic Axis:         GA_x5YUV32VSLS(1493867..1512426)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:630):
AGAGTGGAGCCGAGCGGTGCGGAGCAGATCTGGTGGTTCTCCGGAGAGCAGCTTCCTYGGGTGTTACATGAGCCAAGCCCTCACTGTACAGAAGAGTGAG
AGCTGAAACCTGTTCCCTGAGCTGATCAGAAGGACATCCCTTGGCCCCTCCATCTGGGCTCCYGTGGATAGGAGGGGCTGGGTGAGCAGGCCAGCTGGGC
TATGGTGTGGTGCCTCGGCCTGGCCGTCCTCAGCCTGGTCATCAGCCAGGGGGCTGACGGTCGAGGGAAGCCTGAGGTGGTATCGGTGGTGGGCCGGGCT
GRGGAGAGTGTGGTGCTGGGCTGTGACCTGCTGCCCCCGGCCGGCCGGCCCCCCCTGCATGTCATCGAGTGGCTGCGCTTTGGATTCCTGCTTCCCATCT
TCATCCAGTTCGGCCTCTACTCTCCCCGAATTGACCCTGATTACGTGGGACGAGTCCGGCTGCAGAAGGGGGCCTCTCTCCAGATTGAGGGTCTCCGGGT
GGAAGACCAGGGCTGGTACGAGTGCCGCGTGTTCTTCCTGGACCAGCACATCCCTGAAGACGATTTTGCTAACGGCTCCTGGGTGCATCTGACAGTCAAT
TCACCCCCTCAATTCCAGGAGACACCTCCTGCTGTGTTGGAAGTGCAGGAACTGGAGCCTGTGACCCTGCGTTGTGTGGCCCGTGGCAGCCCCCTGCCTC
ATGTGACGTGGAAGCTCCGAGGAAAGGACCTTGGCCAGGGCCAGGGCCAGGTGCAAGTGCAGAACGGGACGCTGCGGATCCGCCGGGTAGAGCGAGGCAG
CTCTGGGGTCTACACCTGCCAAGCCTCCAGCACTGAGGGCAGCGCCACCCACGCCACCCAGCTGCTAGTGCTAGGACCCCCAGTCATCGTGGTGCCCCCC
AAGAACAGCACAGTCAATGCCTCCCAGGATGYTTCATTGGCCTGCCAYGCTGAGGCATACCCTGCTAACCTCACCTACAGCTGGTTCCAGGACAACATCA
ATGTCTTCCACATTAGCCGCCTGCAGCCCCGGGTGCGGATCCTGGTGGACGGGAGCCTGCGGCTGCTGGCCACCCAGCCTGATGATGCCGGCTGCTACAC
CTGTGTRCCCAGCAATGGCCTCCTGCATCCACCCTCAGCCTCTGCCTACCTCACTGTGCTCTACCCAGCCCAGGTGACAGCTATGCCTCCTGAGACACCC
CTGCCCATAGGCATGCCGGGGGTGATCCGCTGCCCGGTTCGTGCCAACCCCCCACTGCTCTTTGTCAGCTGGACCAAGGATGGAAAGGCCCTGCAGCTGG
ACAAGTTCCCTGGCTGGTCCCAGGGCACAGAAGGCTCACTGATCATCGCCCTGGGGAACGAGGATGCCCTGGGAGAATACTCCTGCACCCCCTACAACAG
TCTTGGTACCGCCGGGCCCTCTCCTGTGACCCGCGTGCTGCTCAAGGCTCCCCCAGCTTTTATAGAGCGGCCCAAGGAAGAATATTTCCAAGAAGTAGGG
CGGGAGCTGCTCATCCCCTGCTCCGCCCAAGGGGACCCTCCTCCTGTTGTCTCTTGGACCAAGGTGGGCCGGGGGCTGCAAGGCCAGGCCCAGGTGGACA
GCAACAGCAGCCTCATCCTGCGACCATTGACCAAGGAGGCCCACGGGCACTGGGAATGCAGTGCCAGCAATGCTGTGGCCCGAGTGGCCACCTCCACGAA
CGTCTACGTGCTGGGCACTAGCCCTCATGTTGTCACCAATGTGTCCGTGGTGGCTTTGCCCAAGGGTGCCAATGTCTCCTGGGAGCCTGGCTTTGATGGT
GGTTATCTGCAGAGATTCAGTGTCTGGTACACCCCACTGGCCAAGCGTCCTGACCGAATGCACCATGACTGGGTGTCCTTGGCAGTGCCTGTGGGGGCTG
CTCACCTCCTAGTGCCAGGGCTGCAGCCCCACACCCAGTACCAGTTCAGCGTGCTAGCTCAGAACAAGCTGGGGAGTGGTCCCTTCAGCGAAATCGTCTT
GTCTGCTCCGGAAGGGCTTCCTACCACGCCAGCTGCACCCGGGCTTCCCCCAACAGAGATACCGCCTCCCCTGTCCCCTCCGCGGGGTCTGGTGGCAGTG
AGGACACCCCGGGGGGTACTCCTGCATTGGGATCCCCCAGAGCTGGTCCCTAAGAGACTGGATGGCTACGTCTTGGAAGGCCGGCAAGGCTCCCAGGGCT
GGGAGGTGCTGGACCCGGCTGTGGCAGGCACAGAAACAGAGCTGCTGGTGCCAGGCCTCATCAAGGATGTTCTCTACGAGTTCCGCCTCGTGGCCTTCGC
GGGCAGCTTCGTCAGCGACCCCAGCAACACGGCCAACGTCTCCACTTCCGGTCTGGAGGTCTACCCTTCGCGCACGCAGCTGCCGGGCCTCCTGCCTCAG
CCCGTGCTGGCCGGCGTGGTGGGCGGAGTCTGCTTTYTGGGAGTGGCCGTCCTTGTGAGCATCCTGGCCGGCTGCCTCCTGAACCSGCGCAGGGCTGCCC
GCCGCCGCCGCAAGCGCCTCCGCCAAGATCCACCTCTTATCTTCTCTCCGACCGGGAAGTCAGCTGCACCCTCTGCTCTGGGCTCAGGCAGTCCTGACAG
CGTGGCGAAGCTGAAGCTCCAGGGATCCCCAGTCCCCAGCCTGCGCCAGAGTCTGCTCTGGGGGGATCCTGCCGGAACTCCCAGCCCCCACCCGGATCCT
CCATCTAGCCGGGGACCCTTACCTCTGGAGCCCATTTGCCGGGGCCCAGACGGGCGCTTTGTKATGGGGCCCACTGTGGCGGCCCCCCAGGAAAGGTCAG
GCCGGGAGCAGGCAGAACCTCGGACTCCAGCCCAGCGTCTGGCCCGGTCCTTTGACTGTAGCAGCAGCAGCCCCAGTGGGGCACCYCAGCCCCTCTGCAT
TGAAGACATCAGCCCTGTGGCACCCCCTCCAGCAGCCCCACYCAGTCCCTTGCCAGGTCCTGGACCCCTGCTCCAGTACCTGAGCCTGCCCTTCTTCCGA
GAGATGAATGTGGATGGGGACTGGCCCCCGCTTGAGGAGCCCAGCCCTGYTGCACCCCCAGATTACATGGATACCCGGCGCTGTCCCACCTCATCTTTCC
TTCGTTCTCCAGAAACCCCTCCTGTATCCCCCAGGGAATCACTTCCTGGGGCTGTGGTAGGGGCTGGGGCCACTGCAGAGCCCCCTTACACAGCCCTGGC
TGACTGGACACTGAGGGAGCGGCTGCTGCCAGGCCTTCTCCCTGCTGCCCCTCGAGGCAGCCTCACCAGCCAGAGCAGBGGGCGAGGCAGCGCTTCGTTC
CTGCGGCCCCCCTCCACAGCCCCCTCTGCAGGAGGCAGCTACCTCAGCCCTGCTCCAGGAGACACCAGCAGCTGGGCCAGTGGCCCTGAGAGATGGCCCC
GAAGGGAGCATGTGGTGACAGTCAGCAAGAGGAGGAACACATCTGTGGACGAGAACTATGAGTGGGACTCAGAATTCCCTGGGGACATGGAATTGCTGGA
GACTTTGCACCTGGGCTTGGCCAGCTCCCGGCTCAGACCTGAAGCTGAGMCAGAGCTAGGTGTGAAGACTCCAGAGGAGGGCTGCCTCCTGAACACTGCC
CATGTTACTGGCCCTGAGGCCCGCTGTGCTGCCCTTCGGGAGGAATTCCTGGCCTTCCGCCGCCGCCGAGATGCTACTAGGGCTCGGCTACCAGCCTATC
GACAGCCAGTCCCCCACCCCGAACAGGCCACTCTGCTGTGAACRTCCCTRATGTGAGGCTGTGAAAAGGCATATGGACCTGCAAAGGAGGCCCCCAACCA
GACAGACCTAGTTTCAAACGAGGGCACTGCCCCTGCCTGCCCCTTTGGTGCCCAGGCACAGACCCTGATAGTGGGTTTGGGTCACCTTGGTATGGAATGT
ATGTGCTGACCCCCTAGGTGAGTCTGGGGATTGGAACAGGGATCTTAGGTCTGCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTSTGTGTGTGTGT
GTGTGTGTGAAGTTTTTTACAGGTGAATAAACAAAGTTTGAAAGATG

Protein Sequence    (SEQ ID NO:1327):
MVWCLGLAVLSLVISQGADGRGKPEVVSVVGRAGESVVLGCDLLPPAGRPPLHVIEWLRFGFLLPIFIQFGLYSPRIDPDYVGRVRLQKGASLQIEGLRV
EDQGWYECRVFFLDQHIPEDDFANGSWVHLTVNSPPQFQETPPAVLEVQELEPVTLRCVARGSPLPHVTWKLRGKDLGQGQGQVQVQNGTLRIRRVERGS
SGVYTCQASSTEGSATHATQLLVLGPPVIVVPPKNSTVNASQDVSLACHAEAYPANLTYSWFQDNINVFHISRLQPRVRILVDGSLRLLATQPDDAGCYT
CVPSNGLLHPPSASAYLTVLYPAQVTAMPPETPLPIGMPGVIRCPVRANPPLLFVSWTKDGKALQLDKFPGWSQGTEGSLIIALGNEDALGEYSCTPYNS
LGTAGPSPVTRVLLKAPPAFIERPKEEYFQEVGRELLIPCSAQGDPPPVVSWTKVGRGLQGQAQVDSNSSLILRPLTKEAHGHWECSASNAVARVATSTN
VYVLGTSPHVVTNVSVVALPKGANVSWEPGFDGGYLQRFSVWYTPLAKRPDRMHHDWVSLAVPVGAAHLLVPGLQPHTQYQFSVLAQNKLGSGPFSEIVL
SAPEGLPTTPAAPGLPPTEIPPPLSPPRGLVAVRTPRGVLLHWDPPELVPKRLDGYVLEGRQGSQGWEVLDPAVAGTETELLVPGLIKDVLYEFRLVAFA
GSFVSDPSNTANVSTSGLEVYPSRTQLPGLLPQPVLAGVVGGVCFLGVAVLVSILAGCLLNRRRAARRRRKRLRQDPPLIFSPTGKSAAPSALGSGSPDS
VAKLKLQGSPVPSLRQSLLWGDPAGTPSPHPDPPSSRGPLPLEPICRGPDGRFVMGPTVAAPQERSGREQAEPRTPAQRLARSFDCSSSSPSGAPQPLCI
EDISPVAPPPAAPPSPLPGPGPLLQYLSLPFFREMNVDGDWPPLEEPSPAAPPDYMDTRRCPTSSFLRSPETPPVSPRESLPGAVVGAGATAEPPYTALA
DWTLRERLLPGLLPAAPRGSLTSQSSGRGSASFLRPPSTAPSAGGSYLSPAPGDTSSWASGPERWPRREHVVTVSKRRNTSVDENYEWDSEFPGDMELLE
TLHLGLASSRLRPEAEPELGVKTPEEGCLLNTAHVTGPEARCAALREEFLAFRRRRDATRARLPAYRQPVPHPEQATLL


SNP Information

Context             (SEQ ID NO:11044):
TTGCCAGGTCCTGGACCCCTGCTCCAGTACCTGAGCCTGCCCTTCTTCCGAGAGATGAATGTGGATGGGGACTGGCCCCCGCTTGAGGAGCCCAGCCCTG
Y
TGCACCCCCAGATTACATGGATACCCGGCGCTGTCCCACCTCATCTTTCCTTCGTTCTCCAGAAACCCCTCCTGTATCCCCCAGGGAATCACTTCCTGGG
Celera SNP ID:            hCV27472980
SNP Position Transcript:  3050
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 950, (A,GCT)   (V,GTT)      



Context             (SEQ ID NO:11045):
GGTATGGAATGTATGTGCTGACCCCCTAGGTGAGTCTGGGGATTGGAACAGGGATCTTAGGTCTGCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
S
TGTGTGTGTGTGTGTGTGTGAAGTTTTTTACAGGTGAATAAACAAAGTTTGAAAGATG
Celera SNP ID:            hCV26627222
SNP Position Transcript:  3989
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,4)   total(G,4|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1327, None   



Context             (SEQ ID NO:11046):
AGAGTGGAGCCGAGCGGTGCGGAGCAGATCTGGTGGTTCTCCGGAGAGCAGCTTCCT
Y
GGGTGTTACATGAGCCAAGCCCTCACTGTACAGAAGAGTGAGAGCTGAAACCTGTTCCCTGAGCTGATCAGAAGGACATCCCTTGGCCCCTCCATCTGGG
Celera SNP ID:            hCV7478790
SNP Position Transcript:  58
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,8)   caucasian(C,18|T,20)   total(C,36|T,28)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1327, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,4)      total(C,4|T,2) ;JBIC-allele(C,168|T,1317)   total(C,168|T,1317)   no_pop(T,-|C,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1327, None   



Context             (SEQ ID NO:11047):
ATGGTGTGGTGCCTCGGCCTGGCCGTCCTCAGCCTGGTCATCAGCCAGGGGGCTGACGGTCGAGGGAAGCCTGAGGTGGTATCGGTGGTGGGCCGGGCTG
R
GGAGAGTGTGGTGCTGGGCTGTGACCTGCTGCCCCCGGCCGGCCGGCCCCCCCTGCATGTCATCGAGTGGCTGCGCTTTGGATTCCTGCTTCCCATCTTC
Celera SNP ID:            hCV360268
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,3|G,33)   total(A,5|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 34, (E,GAG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(G,18)   caucasian(A,1|G,3)   total(A,1|G,21)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 34, (E,GAG)   (G,GGG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,4)   total(G,4|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 34, (E,GAG)   (G,GGG)      



Context             (SEQ ID NO:11048):
CGTCTCCACTTCCGGTCTGGAGGTCTACCCTTCGCGCACGCAGCTGCCGGGCCTCCTGCCTCAGCCCGTGCTGGCCGGCGTGGTGGGCGGAGTCTGCTTT
Y
TGGGAGTGGCCGTCCTTGTGAGCATCCTGGCCGGCTGCCTCCTGAACCGGCGCAGGGCTGCCCGCCGCCGCCGCAAGCGCCTCCGCCAAGATCCACCTCT
Celera SNP ID:            hCV25753390
SNP Position Transcript:  2437
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,20|T,2)   total(C,50|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 746, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11049):
GGCCTCCTGCCTCAGCCCGTGCTGGCCGGCGTGGTGGGCGGAGTCTGCTTTCTGGGAGTGGCCGTCCTTGTGAGCATCCTGGCCGGCTGCCTCCTGAACC
S
GCGCAGGGCTGCCCGCCGCCGCCGCAAGCGCCTCCGCCAAGATCCACCTCTTATCTTCTCTCCGACCGGGAAGTCAGCTGCACCCTCTGCTCTGGGCTCA
Celera SNP ID:            hCV25753286
SNP Position Transcript:  2486
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,23)   total(C,1|G,61)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 762, (P,CCG)   (R,CGG)   



Context             (SEQ ID NO:11050):
CGAGAACTATGAGTGGGACTCAGAATTCCCTGGGGACATGGAATTGCTGGAGACTTTGCACCTGGGCTTGGCCAGCTCCCGGCTCAGACCTGAAGCTGAG
M
CAGAGCTAGGTGTGAAGACTCCAGAGGAGGGCTGCCTCCTGAACACTGCCCATGTTACTGGCCCTGAGGCCCGCTGTGCTGCCCTTCGGGAGGAATTCCT
Celera SNP ID:            hCV7479431
SNP Position Transcript:  3550
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,6)      total(A,1|C,6) ;JBIC-allele(A,308|C,1175)   total(C,1175|A,308)no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 1117, (T,ACA)   (P,CCA)      1117, (P,CCA)   (T,ACA)      



Context             (SEQ ID NO:11051):
TGGCCTTCCGCCGCCGCCGAGATGCTACTAGGGCTCGGCTACCAGCCTATCGACAGCCAGTCCCCCACCCCGAACAGGCCACTCTGCTGTGAACATCCCT
R
ATGTGAGGCTGTGAAAAGGCATATGGACCTGCAAAGGAGGCCCCCAACCAGACAGACCTAGTTTCAAACGAGGGCACTGCCCCTGCCTGCCCCTTTGGTG
Celera SNP ID:            hCV7479432
SNP Position Transcript:  3750
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,8)   caucasian(A,17|G,21)   total(A,39|G,29)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1327, None

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1327, None   



Context             (SEQ ID NO:11052):
AGCCCCCTTACACAGCCCTGGCTGACTGGACACTGAGGGAGCGGCTGCTGCCAGGCCTTCTCCCTGCTGCCCCTCGAGGCAGCCTCACCAGCCAGAGCAG
B
GGGCGAGGCAGCGCTTCGTTCCTGCGGCCCCCCTCCACAGCCCCCTCTGCAGGAGGCAGCTACCTCAGCCCTGCTCCAGGAGACACCAGCAGCTGGGCCA
Celera SNP ID:            hCV25623360
SNP Position Transcript:  3279
SNP Source:               Applera
Population(Allele,Count): african american(C,11|G,2|T,15)   caucasian(C,2|T,8)   total(C,13|G,2|T,23)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 1026, (S,AGC)   (R,AGG)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,5)   caucasian(C,3|T,3)   total(C,10|T,8)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 1026, (S,AGC)   (S,AGT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,404|C,1093)   total(C,1093|T,404) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 1026, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:11053):
GCCCGGTCCTTTGACTGTAGCAGCAGCAGCCCCAGTGGGGCACCCCAGCCCCTCTGCATTGAAGACATCAGCCCTGTGGCACCCCCTCCAGCAGCCCCAC
Y
CAGTCCCTTGCCAGGTCCTGGACCCCTGCTCCAGTACCTGAGCCTGCCCTTCTTCCGAGAGATGAATGTGGATGGGGACTGGCCCCCGCTTGAGGAGCCC
Celera SNP ID:            hCV25623370
SNP Position Transcript:  2942
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,3)   caucasian(C,22)   total(C,49|T,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 914, (P,CCC)   (L,CTC)   



Context             (SEQ ID NO:11054):
AATTCCTGGCCTTCCGCCGCCGCCGAGATGCTACTAGGGCTCGGCTACCAGCCTATCGACAGCCAGTCCCCCACCCCGAACAGGCCACTCTGCTGTGAAC
R
TCCCTAATGTGAGGCTGTGAAAAGGCATATGGACCTGCAAAGGAGGCCCCCAACCAGACAGACCTAGTTTCAAACGAGGGCACTGCCCCTGCCTGCCCCT
Celera SNP ID:            hCV16137915
SNP Position Transcript:  3744
SNP Source:               Applera
Population(Allele,Count): african american(A,26|G,10)   caucasian(A,37|G,3)   total(A,63|G,13)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1327, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,7)      total(G,1|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1327, None   



Context             (SEQ ID NO:11055):
ACTGAGGGCAGCGCCACCCACGCCACCCAGCTGCTAGTGCTAGGACCCCCAGTCATCGTGGTGCCCCCCAAGAACAGCACAGTCAATGCCTCCCAGGATG
Y
TTCATTGGCCTGCCATGCTGAGGCATACCCTGCTAACCTCACCTACAGCTGGTTCCAGGACAACATCAATGTCTTCCACATTAGCCGCCTGCAGCCCCGG
Celera SNP ID:            hCV25623380
SNP Position Transcript:  932
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,34)   total(C,1|T,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1327, 244, (A,GCT)   (V,GTT)   



Context             (SEQ ID NO:11056):
CCCACGCCACCCAGCTGCTAGTGCTAGGACCCCCAGTCATCGTGGTGCCCCCCAAGAACAGCACAGTCAATGCCTCCCAGGATGTTTCATTGGCCTGCCA
Y
GCTGAGGCATACCCTGCTAACCTCACCTACAGCTGGTTCCAGGACAACATCAATGTCTTCCACATTAGCCGCCTGCAGCCCCGGGTGCGGATCCTGGTGG
Celera SNP ID:            hCV25623381
SNP Position Transcript:  948
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,22)   caucasian(T,34)   total(C,12|T,56)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 249, (H,CAC)   (H,CAT)   



Context             (SEQ ID NO:11057):
TCCACATTAGCCGCCTGCAGCCCCGGGTGCGGATCCTGGTGGACGGGAGCCTGCGGCTGCTGGCCACCCAGCCTGATGATGCCGGCTGCTACACCTGTGT
R
CCCAGCAATGGCCTCCTGCATCCACCCTCAGCCTCTGCCTACCTCACTGTGCTCTACCCAGCCCAGGTGACAGCTATGCCTCCTGAGACACCCCTGCCCA
Celera SNP ID:            hCV25623382
SNP Position Transcript:  1107
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,39)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 302, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:11058):
GGGATCCTGCCGGAACTCCCAGCCCCCACCCGGATCCTCCATCTAGCCGGGGACCCTTACCTCTGGAGCCCATTTGCCGGGGCCCAGACGGGCGCTTTGT
K
ATGGGGCCCACTGTGGCGGCCCCCCAGGAAAGGTCAGGCCGGGAGCAGGCAGAACCTCGGACTCCAGCCCAGCGTCTGGCCCGGTCCTTTGACTGTAGCA
Celera SNP ID:            hCV25623358
SNP Position Transcript:  2763
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,34)   total(G,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 854, (V,GTG)   (V,GTT)   



Context             (SEQ ID NO:11059):
GTTACATGAGCCAAGCCCTCACTGTACAGAAGAGTGAGAGCTGAAACCTGTTCCCTGAGCTGATCAGAAGGACATCCCTTGGCCCCTCCATCTGGGCTCC
Y
GTGGATAGGAGGGGCTGGGTGAGCAGGCCAGCTGGGCTATGGTGTGGTGCCTCGGCCTGGCCGTCCTCAGCCTGGTCATCAGCCAGGGGGCTGACGGTCG
Celera SNP ID:            hCV16187699
SNP Position Transcript:  163
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,7|T,1490)   total(C,7|T,1490) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1327, None   



Context             (SEQ ID NO:11060):
CCCAGGAAAGGTCAGGCCGGGAGCAGGCAGAACCTCGGACTCCAGCCCAGCGTCTGGCCCGGTCCTTTGACTGTAGCAGCAGCAGCCCCAGTGGGGCACC
Y
CAGCCCCTCTGCATTGAAGACATCAGCCCTGTGGCACCCCCTCCAGCAGCCCCACCCAGTCCCTTGCCAGGTCCTGGACCCCTGCTCCAGTACCTGAGCC
Celera SNP ID:            hCV25623359
SNP Position Transcript:  2886
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,21|T,1)   total(C,55|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1327, 895, (P,CCC)   (P,CCT)   



Gene Number:                 245
Celera Gene:                 hCG39740 - 66000115828178
Celera Transcript:           hCT30992 - 66000115828179
Public Transcript Accession: NM_012337
Celera Protein:              hCP49525 - 197000069372287
Public Protein Accession:    NP_036469
Gene Symbol:                 NESG1
Protein Name:                nasopharyngeal epithelium specific protein 1
Celera Genomic Axis:         GA_x5YUV32VSLS(1539319..1567111)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:631):
CGGCGCCGAGGCGGCAGCAGAAGTCCGGAGTCAGGGCGTGTGGCTGAGGAGATGCCACTAAGCACAGCTGGCATCCTGAGCTCCTCTTCTGCCGCTTCCA
ACAGGTCAAGGAATAAGGCTCRCTATCGGACCAAAGCCGTGAGCTCTGAGGTGGATGAGAGCCTCTTTGGAGATATCAAGTCCCCAGCCCAGGGCCAGAG
CGACAGCCCCATTGTGCTGCTCCGAGATAAGCATACCCTTCAAAAAACTCTCACTGCTTTGGGCTTGGATYGCAAGCCAGAGACCATCCAGCTCATCACC
CGGGACATGGTCCGAGAACTCATTGTTCCCACAGAGGATCCCTCCGGGGAGTCCCTAATCATCAGCCCTGAGGAGTTTGAGCGAATCAAATGGGCATCCC
ATGTCCTGACCAGAGAAGAACTTGAGGCCAGGGACCAGGCCTTCAAGAAGGAGAAGGAAGCCACCATGGATGCAGTGATGACACGAAAGAAGATCATGAA
ACAGAAGGAGATGGTGTGGAACAACAACAAGAAGCTCAGTGACCTGGAGGAGGTGGCCAAGGAACGGGCCCAGAACCTCCTGCAGAGAGCCAACAAGCTG
CGGATGGAGCAGGAGGAGGAGCTCAAGGACATGAGCAAGATTATCCTCAATGCTAAGTGCCATGCCATCCGGGATGCCCAAATCCTGGARAAGCAGCAGA
TCCAAAAAGAACTGGRCACAGAAGAGAAGCGGTTGGATCAGATGATGGAAGTGGAGCGGCAGAAATCCATTCAAAGGCAGGAGGAACTGGAGAGGAAGAG
GAGGGAGGAAAGAATTAGAGGAAGGCGGCAAATTGTGGAACAGATGGAAAAGAACCAGGAGGAGCGATCGCTGCTTGCTGAGCAGCGGGAGCAGGAGAAG
GAGCAGATGCTGGAATATATGGRACAGCTCCAAGAGGAAGATCTAAAGGACATGGAACGAAGGCAGCAACAAAAACTGAAGATGCAAGCTGAGATTAAGC
GCATCAATGATGAAAACCAGAAACAGAAAGCAGAACTSCTGGCTCAGGAGAAGCTGGCAGACCAGATGGTGATGGAGTTTACCAAGAAGAAGATGGCTCG
AGAAGCAGAGTTTGAGGCTGAGCAGGAGAGAATCCGGAGGGAGAAAGAGAAGGAGATCGCACGCTTGAGGGCCATGCAGGAGAAGGCCCAGGATTACCAG
GCAGAACAGGATGCCTTGCGGGCCAAGCGCAACCAGGAGGTTGCAGACAGAGAGTGGCGCAGAAAGGAAAAGGAAAATGCGCGGAAGAAGATGGAAACAG
AGGCTGAGCTGCGAAAAAGTCGGCTCGAACAGGTGGCTTTCAAGGAGCACGCTCTGGCTGTTCAGGTGCAACGGGACCGGGATGAGTTCGAGAGGATTCT
TCGGGCTCAGAGAGAACAGATTGAGAAGGAGCGGCTGGAGGAGGAGAAAAAGGCCACAGGGCGCTTACAGCATGCCAATGAGCTCCGGCGCCAGGTGCGC
GAGAACCAGCAGAAGGAAGTGCAGAACCGGATTGCCACCTTTGAGGAGGGCCGGCGCCTCAAAGAGGAGGCCCAGAAACGCCGTGAGCGCATCGATGAGA
TCAAGAGGAAAAAGCTTGAAGAGCTGAGAGCCACTGGCCTTCCCGAGAAGTACTGCATTGAAGCTGAGCGCAAAGCTAACATCCTGCCAGCTACCTCTGT
GAACTGAGGGGAGCCTTCGTGGCCCTCAGGATGCCTTCGGGGGACAGATTYTGCCCAGTCTCTGGGCATCCATAATTGCTGCTAACCTAGACATTTCATA
GTTACAGATTAAATCTACTTGACTTTAAGG

Protein Sequence    (SEQ ID NO:1328):
MPLSTAGILSSSSAASNRSRNKARYRTKAVSSEVDESLFGDIKSPAQGQSDSPIVLLRDKHTLQKTLTALGLDRKPETIQLITRDMVRELIVPTEDPSGE
SLIISPEEFERIKWASHVLTREELEARDQAFKKEKEATMDAVMTRKKIMKQKEMVWNNNKKLSDLEEVAKERAQNLLQRANKLRMEQEEELKDMSKIILN
AKCHAIRDAQILEKQQIQKELDTEEKRLDQMMEVERQKSIQRQEELERKRREERIRGRRQIVEQMEKNQEERSLLAEQREQEKEQMLEYMEQLQEEDLKD
MERRQQQKLKMQAEIKRINDENQKQKAELLAQEKLADQMVMEFTKKKMAREAEFEAEQERIRREKEKEIARLRAMQEKAQDYQAEQDALRAKRNQEVADR
EWRRKEKENARKKMETEAELRKSRLEQVAFKEHALAVQVQRDRDEFERILRAQREQIEKERLEEEKKATGRLQHANELRRQVRENQQKEVQNRIATFEEG
RRLKEEAQKRRERIDEIKRKKLEELRATGLPEKYCIEAERKANILPATSVN


SNP Information

Context             (SEQ ID NO:11061):
AAGATCTAAAGGACATGGAACGAAGGCAGCAACAAAAACTGAAGATGCAAGCTGAGATTAAGCGCATCAATGATGAAAACCAGAAACAGAAAGCAGAACT
S
CTGGCTCAGGAGAAGCTGGCAGACCAGATGGTGATGGAGTTTACCAAGAAGAAGATGGCTCGAGAAGCAGAGTTTGAGGCTGAGCAGGAGAGAATCCGGA
Celera SNP ID:            hCV25624234
SNP Position Transcript:  1038
SNP Source:               Applera
Population(Allele,Count): african american(C,4|G,32)   caucasian(C,1|G,39)   total(C,5|G,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1328, 329, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11062):
GAGGAGCTCAAGGACATGAGCAAGATTATCCTCAATGCTAAGTGCCATGCCATCCGGGATGCCCAAATCCTGGAGAAGCAGCAGATCCAAAAAGAACTGG
R
CACAGAAGAGAAGCGGTTGGATCAGATGATGGAAGTGGAGCGGCAGAAATCCATTCAAAGGCAGGAGGAACTGGAGAGGAAGAGGAGGGAGGAAAGAATT
Celera SNP ID:            hCV25624242
SNP Position Transcript:  716
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1328, 222, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:11063):
AGTCCGGAGTCAGGGCGTGTGGCTGAGGAGATGCCACTAAGCACAGCTGGCATCCTGAGCTCCTCTTCTGCCGCTTCCAACAGGTCAAGGAATAAGGCTC
R
CTATCGGACCAAAGCCGTGAGCTCTGAGGTGGATGAGAGCCTCTTTGGAGATATCAAGTCCCCAGCCCAGGGCCAGAGCGACAGCCCCATTGTGCTGCTC
Celera SNP ID:            hCV25624235
SNP Position Transcript:  122
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(G,40)   total(A,7|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1328, 24, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:11064):
AGGCGGCAAATTGTGGAACAGATGGAAAAGAACCAGGAGGAGCGATCGCTGCTTGCTGAGCAGCGGGAGCAGGAGAAGGAGCAGATGCTGGAATATATGG
R
ACAGCTCCAAGAGGAAGATCTAAAGGACATGGAACGAAGGCAGCAACAAAAACTGAAGATGCAAGCTGAGATTAAGCGCATCAATGATGAAAACCAGAAA
Celera SNP ID:            hCV25624243
SNP Position Transcript:  923
SNP Source:               Applera
Population(Allele,Count): african american(A,30|G,6)   caucasian(A,36)   total(A,66|G,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1328, 291, (E,GAA)   (G,GGA)   



Context             (SEQ ID NO:11065):
AGATATCAAGTCCCCAGCCCAGGGCCAGAGCGACAGCCCCATTGTGCTGCTCCGAGATAAGCATACCCTTCAAAAAACTCTCACTGCTTTGGGCTTGGAT
Y
GCAAGCCAGAGACCATCCAGCTCATCACCCGGGACATGGTCCGAGAACTCATTGTTCCCACAGAGGATCCCTCCGGGGAGTCCCTAATCATCAGCCCTGA
Celera SNP ID:            hCV25624236
SNP Position Transcript:  271
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,36)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1328, 74, (R,CGC)   (C,TGC)   



Context             (SEQ ID NO:11066):
TACTGCATTGAAGCTGAGCGCAAAGCTAACATCCTGCCAGCTACCTCTGTGAACTGAGGGGAGCCTTCGTGGCCCTCAGGATGCCTTCGGGGGACAGATT
Y
TGCCCAGTCTCTGGGCATCCATAATTGCTGCTAACCTAGACATTTCATAGTTACAGATTAAATCTACTTGACTTTAAGG
Celera SNP ID:            hCV7478608
SNP Position Transcript:  1751
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1328, None   



Context             (SEQ ID NO:11067):
CCAACAAGCTGCGGATGGAGCAGGAGGAGGAGCTCAAGGACATGAGCAAGATTATCCTCAATGCTAAGTGCCATGCCATCCGGGATGCCCAAATCCTGGA
R
AAGCAGCAGATCCAAAAAGAACTGGACACAGAAGAGAAGCGGTTGGATCAGATGATGGAAGTGGAGCGGCAGAAATCCATTCAAAGGCAGGAGGAACTGG
Celera SNP ID:            hCV16031913
SNP Position Transcript:  690
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,1|G,37)   total(A,2|G,74)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1328, 213, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1328, 213, (E,GAA)   (E,GAG)      



Gene Number:                 246
Celera Gene:                 hCG39830 - 30000023328788
Celera Transcript:           hCT31082 - 30000023328789
Public Transcript Accession: NM_144702
Celera Protein:              hCP49596 - 30000023328752
Public Protein Accession:    NP_653303
Gene Symbol:                 FLJ32884
Protein Name:                hypothetical protein FLJ32884
Celera Genomic Axis:         GA_x5YUV32VSLS(4503584..4516024)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:632):
GCGTAGGCTACGCCACCGCGGACGGGTCGGATCCGGTCCCTGGACGCGGAACAGAGATCCCCTGATTCAGCCACCCCCAGACTGAGCCCCGTAGAGTGCG
TTCTTACCTTCCTGCCCCGACGAAGGTCCCAGAGACGCTGCGGACAACACCAGCATGTCGAGCGAGCAGAGCGCGCCGGGGGCCTCACCCAGGGCCCCGC
GTCCGGGGACCCAGAAGTCTTCTGGCGCGGYGACCAAAAAGGGAGAGCGCGCGGCCAAAGAGAAGCCAGCGACCGTTCTGCCTCCCGTGGGGGAGGAGGA
GCCCAAAAGCCCTGAGGAGTACCAGTGCTCCGGGGTCCTCGAGACCGACTTCGCCGAGCTCTGCACGCGGTGGGGCTACACGGACTTCCCCAAAGTTGTC
AACCGGCCCCGCCCCCACCCGCCCTTCGTCCCCTCCGCCTCTTTGTCGGAAAAGGCCACCTTAGACGATCCGCGGCTGTCGGGGTCCTGCAGCCTCAATA
GCCTGGAGAGCAAATACGTGTTCTTCCGGCCCACCATCCAGGTGGAGCTGGAGCAGGAGGACAGCAAGTCAGTGAAGGAAATCTACATCCGCGGTTGGAA
GGTTGAGGAACGGATTCTGGGTGTCTTCTCTAAATGTCTGCCCCCGCTTACCCAGCTACAGGCCATCAACTTGTGGAAGGTGGGGCTGACCGATAAGACC
CTGACCACCTTCATCGAGCTCCTGCCTCTCTGTTCATCCACGCTCAGGAAGGTGTCTCTGGAGGGGAACCCACTGCCGGAGCAGTCCTATCACAAGCTCA
TGGCCTTGGACAGCACGATTGCGCACTTGTCTCTGCGGAACAATAACATCGACGACCGCGGGGCGCAACTCCTGGGCCAGGCGCTGTCCACGCTGCACAG
CTGCAACCGGACCCTCGTCTCGCTCAACCTGGGTTTCAACCACATCGGTGACGAGGGCGCAGGCTACATCGCGGACGGCCTCCGGCTGAACCGTTCCCTG
CTCTGGCTGTCCCTGGCCCACAACCGCATCCAGGAYAAGGGCGCCCTGAARCTGGCTGAGGTCCTGCGCGCCTTCGAGCTGACACACACCGAAGTGGTGG
AGCGCCGACGCCTCCTGCTGGAAAAAGGGACACAGGAGCGCTCGCGATCGCCCTCCTCCTCTCGACACGGGGACTCCAAAACGGACCGTGAGAAGAGTCA
GATGGTAGGGATCAGCAATAGTGCATTGGTGGACAAGACAGACAAGACGCAGACAATGAAAACCCCTAAGGGCCTGGGCAAGAAAAAGGAGAAATCATGG
GAATTGGCCAAGAAAGAGGAGAAGTTGGGGTCTGGGCAGTCACCCACACAAGGAACCCCTAAGAAGGAAGATGCCACAAAGGCAGGCAAGGGGAAGGTAA
CCATCCCTGAACAGAAGCCAAGCAGGGCAAAAGGGATCAAGATCGGGAGCAGAGAGAAGCGCAGCATCCTCCTGGAGTCCGAGCAGCTGGTTGTTGAGGC
TACTGAGGTGGTCAACCCTCTCCTGGAGCCTGTGGAGCACCGAGATGGGAAAGTTTTCATGCCTGGGAACAAGGTCCTTTTGCACCTCAACCTCATCCGG
AACCRCATCACAGAGGTGGGGCTGGAGGGCTTCCTCGCCACRGTGCAGTATCAGATGCAGTTCKCCAAGGCCAAGAGTGCATCCAAGGGTCCARTGGGGC
TGCTGTGGCTGTCCCTGGCTGTGAGTCCCTTTCACTCTCTCCTGCTGAAGCAGACGTTGCCCCTATCAGCTGTCATACTAGACAGCTGCTGCAGGCAGCT
TCTGTCTCCCCATTTCCAAGGAAGAAAAATTGCTTCGCCCCACAATGTCCTGCGTACGCCATAATCCAGGAGCTGATGTTGCCAAGGGATCCCATCAAGG
CCAAACTCAGGGAGGATGAGGCCATGGCATTCTTCCCCTAGCCCCCTCCCACCTGCTTGCCTCTAAGACTCGGGGCTACAGAAGCACCTCCTGTCCCTGT
GTGGGGTGACCTCCCTGGGGGAGATCTCAGACCAATAACAAAGTCTGTTGCTATACTTTT

Protein Sequence    (SEQ ID NO:1329):
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPKVVNRPRPHPPFVPSASLSEK
ATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSKCLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKV
SLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKL
AEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG
TPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQ
MQFSKAKSASKGPVGLLWLSLAVSPFHSLLLKQTLPLSAVILDSCCRQLLSPHFQGRKIASPHNVLRTP


SNP Information

Context             (SEQ ID NO:11068):
TGGGAACAAGGTCCTTTTGCACCTCAACCTCATCCGGAACCGCATCACAGAGGTGGGGCTGGAGGGCTTCCTCGCCACGGTGCAGTATCAGATGCAGTTC
K
CCAAGGCCAAGAGTGCATCCAAGGGTCCAGTGGGGCTGCTGTGGCTGTCCCTGGCTGTGAGTCCCTTTCACTCTCTCCTGCTGAAGCAGACGTTGCCCCT
Celera SNP ID:            hCV3178933
SNP Position Transcript:  1664
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,11)   caucasian(G,4|T,34)   total(G,7|T,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 504, (A,GCC)   (S,TCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|T,4)      total(G,1|T,4) ;JBIC-allele(G,548|T,939)   total(G,548|T,939)   no_pop(G,-|T,-)   SC_12_A(G,9|T,11)   SC_12_C(G,6|T,18)   SC_12_AA(G,10|T,13)   SC_95_C(G,27|T,154)   total(G,52|T,196)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 504, (A,GCC)   (S,TCC)      



Context             (SEQ ID NO:11069):
CATCCGGAACCGCATCACAGAGGTGGGGCTGGAGGGCTTCCTCGCCACGGTGCAGTATCAGATGCAGTTCTCCAAGGCCAAGAGTGCATCCAAGGGTCCA
R
TGGGGCTGCTGTGGCTGTCCCTGGCTGTGAGTCCCTTTCACTCTCTCCTGCTGAAGCAGACGTTGCCCCTATCAGCTGTCATACTAGACAGCTGCTGCAG
Celera SNP ID:            hCV25624510
SNP Position Transcript:  1694
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,37)   total(A,1|G,57)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 514, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11070):
GAGGTGGTCAACCCTCTCCTGGAGCCTGTGGAGCACCGAGATGGGAAAGTTTTCATGCCTGGGAACAAGGTCCTTTTGCACCTCAACCTCATCCGGAACC
R
CATCACAGAGGTGGGGCTGGAGGGCTTCCTCGCCACGGTGCAGTATCAGATGCAGTTCTCCAAGGCCAAGAGTGCATCCAAGGGTCCAGTGGGGCTGCTG
Celera SNP ID:            hCV25624511
SNP Position Transcript:  1605
SNP Source:               Applera
Population(Allele,Count): african american(G,12)   caucasian(A,5|G,33)   total(A,5|G,45)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 484, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:11071):
AGAGACGCTGCGGACAACACCAGCATGTCGAGCGAGCAGAGCGCGCCGGGGGCCTCACCCAGGGCCCCGCGTCCGGGGACCCAGAAGTCTTCTGGCGCGG
Y
GACCAAAAAGGGAGAGCGCGCGGCCAAAGAGAAGCCAGCGACCGTTCTGCCTCCCGTGGGGGAGGAGGAGCCCAAAAGCCCTGAGGAGTACCAGTGCTCC
Celera SNP ID:            hCV25624512
SNP Position Transcript:  231
SNP Source:               Applera
Population(Allele,Count): african american(C,6|T,30)   caucasian(C,4|T,32)   total(C,10|T,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 26, (A,GCG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,29)   caucasian(C,3|T,31)   total(C,8|T,60)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1329, 26, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:11072):
TCAACCACATCGGTGACGAGGGCGCAGGCTACATCGCGGACGGCCTCCGGCTGAACCGTTCCCTGCTCTGGCTGTCCCTGGCCCACAACCGCATCCAGGA
Y
AAGGGCGCCCTGAAGCTGGCTGAGGTCCTGCGCGCCTTCGAGCTGACACACACCGAAGTGGTGGAGCGCCGACGCCTCCTGCTGGAAAAAGGGACACAGG
Celera SNP ID:            hCV25624513
SNP Position Transcript:  1036
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1329, 294, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11073):
ACGAGGGCGCAGGCTACATCGCGGACGGCCTCCGGCTGAACCGTTCCCTGCTCTGGCTGTCCCTGGCCCACAACCGCATCCAGGACAAGGGCGCCCTGAA
R
CTGGCTGAGGTCCTGCGCGCCTTCGAGCTGACACACACCGAAGTGGTGGAGCGCCGACGCCTCCTGCTGGAAAAAGGGACACAGGAGCGCTCGCGATCGC
Celera SNP ID:            hCV27984507
SNP Position Transcript:  1051
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1329, 299, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:11074):
GAGATGGGAAAGTTTTCATGCCTGGGAACAAGGTCCTTTTGCACCTCAACCTCATCCGGAACCGCATCACAGAGGTGGGGCTGGAGGGCTTCCTCGCCAC
R
GTGCAGTATCAGATGCAGTTCTCCAAGGCCAAGAGTGCATCCAAGGGTCCAGTGGGGCTGCTGTGGCTGTCCCTGGCTGTGAGTCCCTTTCACTCTCTCC
Celera SNP ID:            hCV3178932
SNP Position Transcript:  1642
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,1)   caucasian(A,13|G,25)   total(A,20|G,26)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1329, 496, (T,ACA)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2) ;JBIC-allele(G,175|A,1270)   total(G,175|A,1270)   no_pop(A,-|G,-)   TSC_42_A(G,11|A,72)   TSC_42_C(A,18|G,65)   TSC_42_AA(G,7|A,76)   total(G,83|A,166)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1329, 496, (T,ACA)   (T,ACG)      



Gene Number:                 247
Celera Gene:                 hCG39950 - 63000132500040
Celera Transcript:           hCT31202 - 63000132500041
Public Transcript Accession: 
Celera Protein:              hCP49740 - 197000069372484
Public Protein Accession:    
Gene Symbol:                 
Protein Name:                
Celera Genomic Axis:         GA_x5YUV32VSLS(2719106..2720051)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:633):
ATGGAGAGCRGAAACCAATCAACAGTGACTGAATTTATCTTCACTGGATTCCCTCAGCTTCAGGATGGTAGTCTCCTGTACTTCTTTCCTTTACTTTTCA
TCTATACTTTTATTATCATTGATAACTTATTAATCTTCTCTGCTGTAAGGCTGGACACCCATCTCCACAACCCCATGTATAATTTTATCAGTATATTTTC
CTTTCTGGAGATCTGGTACACCACAGCCACCATTCCCAAGATGCTCTCCAACCTCATCAGTGAAAAGAAGGCCATCTCAATGACTGGCTGCATCTTGCAG
ATGTATTTCTTCCACTCACTTGAAAACTCAGAGGGGATCTTGCTGACCACCATGGCCATTGACAGATACGTTGCCATCTGCAACCCTCTTCGCTATCAAA
TGATCATGACCCCCCGGCTCTGTGCTCAMCTCTCTGCAGGTTCCTGCCTCTTCGGTTTCCTTATCCTGCTTCCCGAGATTGTGATGATTTCCACACTGCC
TTTCTGTGGGCCCAACCAAATCCATCAGATCTTCTGTGACTTGGTCCCTGTGCTAAGCCTGGCCTGTACAGACACGTCCATGATTCTGATTGAGGATGTG
ATTCATGCTGTGACCATCATCATTACCTTCCTAATCATTGCCCTGTCCTATGTAAGAATTGTCACTGTGATATTGAGGATTYCCTCTTCTGAAGGGAGGC
AAAAGGCTTTTTCTACCTGTGCAGGCCACCTCATGGTCTTCCYGATATTCTTTGGCAGTGTATCACTCATGTACTTGCGTTTCAGCRACACTTATCCACC
AGTTTTGGACACAGCCATTGCACTGATGTTTACTGTACTTGCTCCATTCTTCAATCCCATCATTTATAGCCTGAGAAACAAGGACATGAACAATGCRATT
AAAAAACTGTTCTGTCTTCAAAAAGTGTTGAACAAGCCTGGAGGT

Protein Sequence    (SEQ ID NO:1330):
MESGNQSTVTEFIFTGFPQLQDGSLLYFFPLLFIYTFIIIDNLLIFSAVRLDTHLHNPMYNFISIFSFLEIWYTTATIPKMLSNLISEKKAISMTGCILQ
MYFFHSLENSEGILLTTMAIDRYVAICNPLRYQMIMTPRLCAQLSAGSCLFGFLILLPEIVMISTLPFCGPNQIHQIFCDLVPVLSLACTDTSMILIEDV
IHAVTIIITFLIIALSYVRIVTVILRISSSEGRQKAFSTCAGHLMVFPIFFGSVSLMYLRFSDTYPPVLDTAIALMFTVLAPFFNPIIYSLRNKDMNNAI
KKLFCLQKVLNKPGG


SNP Information

Context             (SEQ ID NO:11075):
CTGTCCTATGTAAGAATTGTCACTGTGATATTGAGGATTTCCTCTTCTGAAGGGAGGCAAAAGGCTTTTTCTACCTGTGCAGGCCACCTCATGGTCTTCC
Y
GATATTCTTTGGCAGTGTATCACTCATGTACTTGCGTTTCAGCGACACTTATCCACCAGTTTTGGACACAGCCATTGCACTGATGTTTACTGTACTTGCT
Celera SNP ID:            hCV26808500
SNP Position Transcript:  743
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1330, 248, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11076):
CACCAGTTTTGGACACAGCCATTGCACTGATGTTTACTGTACTTGCTCCATTCTTCAATCCCATCATTTATAGCCTGAGAAACAAGGACATGAACAATGC
R
ATTAAAAAACTGTTCTGTCTTCAAAAAGTGTTGAACAAGCCTGGAGGT
Celera SNP ID:            hCV7481589
SNP Position Transcript:  897
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1330, 299, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11077):
CAGAGGGGATCTTGCTGACCACCATGGCCATTGACAGATACGTTGCCATCTGCAACCCTCTTCGCTATCAAATGATCATGACCCCCCGGCTCTGTGCTCA
M
CTCTCTGCAGGTTCCTGCCTCTTCGGTTTCCTTATCCTGCTTCCCGAGATTGTGATGATTTCCACACTGCCTTTCTGTGGGCCCAACCAAATCCATCAGA
Celera SNP ID:            hCV7481597
SNP Position Transcript:  429
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1330, 143, (Q,CAA)   (H,CAC)      



Context             (SEQ ID NO:11078):
ATGGAGAGC
R
GAAACCAATCAACAGTGACTGAATTTATCTTCACTGGATTCCCTCAGCTTCAGGATGGTAGTCTCCTGTACTTCTTTCCTTTACTTTTCATCTATACTTT
Celera SNP ID:            hCV7481598
SNP Position Transcript:  10
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1330, 4, (R,AGA)   (G,GGA)      



Context             (SEQ ID NO:11079):
GATTCTGATTGAGGATGTGATTCATGCTGTGACCATCATCATTACCTTCCTAATCATTGCCCTGTCCTATGTAAGAATTGTCACTGTGATATTGAGGATT
Y
CCTCTTCTGAAGGGAGGCAAAAGGCTTTTTCTACCTGTGCAGGCCACCTCATGGTCTTCCCGATATTCTTTGGCAGTGTATCACTCATGTACTTGCGTTT
Celera SNP ID:            hCV3203502
SNP Position Transcript:  682
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(T,-|C,-)   ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1330, 228, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:11080):
TTCTGAAGGGAGGCAAAAGGCTTTTTCTACCTGTGCAGGCCACCTCATGGTCTTCCCGATATTCTTTGGCAGTGTATCACTCATGTACTTGCGTTTCAGC
R
ACACTTATCCACCAGTTTTGGACACAGCCATTGCACTGATGTTTACTGTACTTGCTCCATTCTTCAATCCCATCATTTATAGCCTGAGAAACAAGGACAT
Celera SNP ID:            hCV7481590
SNP Position Transcript:  787
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1330, 263, (N,AAC)   (D,GAC)      



Gene Number:                 248
Celera Gene:                 hCG40093 - 79000075575650
Celera Transcript:           hCT2307212 - 79000075575651
Public Transcript Accession: NM_005761
Celera Protein:              hCP1880561 - 197000069413825
Public Protein Accession:    NP_005752
Gene Symbol:                 PLXNC1
Protein Name:                plexin C1;PLXN#;PLXN-C1;VESPR
Celera Genomic Axis:         GA_x5YUV32W46Y(41837557..41994313)
Chromosome:                  Chr12
OMIM number:                 604259
OMIM Information:            PLEXIN C1;PLXNC1


Transcript Sequence (SEQ ID NO:634):
GCGAGGAGGAAACGGTGCCGGAGCGCGCAGGGCTTGCTGCCGCCACCGCCGCTGCACAGGCTGCCGGAGCGAGCCTGCCGCGCGCCGCCCTCCCCGCTCT
CCTTCCTGGGCGAGCTGCGGGGATGGGGCGGCCGCGGGAGCCCGAGCGCGCGCAGGAACCGCCGCCGCCGCCGCCCGCGTYTCCGTTGCCGCGCGCCTGA
GCCGCCGTCGCCGCCGCGCGCCCTGCCCGGGGGCGGCCCCCCCAGCCCCATGGAGGTCTCCCGGAGGAAGGCGCCGCCGCGCCCCCCGCGCCCCGCAGCG
CCACTGCCCCTGCTCGCCTATCTGCTGGCACTGGCGGCTCCCGGCCGGGGCGCGGACGAGCCCGTGTGGCGGTCGGAGCAAGCCATCGGAGCCATCGCGG
CGAGCCAGGAGGACGGCGTGTTTGTGGCGAGCGGCAGCTGCCTGGACCAGCTGGACTACAGCCTGGAGCACAGCCTCTCGCGCCTGTACCGGGACCAAGC
GGGCAACTGCACAGAGCCGGTCTCGCTGGCGCCCCCCGCGCGGCCCCGGCCCGGGAGCAGCTTCAGCAAGCTGCTGCTGCCCTACCGCGAGGGGGCGGCC
GGCCTCGGGGGGCTGCTGCTCACCGGCTGGACCTTCGACCGGGGCGCCTGCGAGGTGCGGCCCCTGGGCAACCTGAGCCGCAACTCCCTGCGCAACGGCA
CCGAGGTGGTGTCGTGCCACCCGCAGGGCTCGACGGCCGGCGTGGTGTACCGCGCGGGCCGGAACAACCGCTGGTACCTGGCGGTGGCCGCCACCTACGT
GCTGCCTGAGCCGGAGACGGCGAGCCGCTGCAACCCCGCGGCATCCGACCACGACACGGCCATCGCGCTCAAGGACACGGAGGGGCGCAGCCTGGCCACG
CAGGAGCTGGGGCGCCTCAAGCTGTGCGAGGGCGCGGGCAGCCTGCACTTCGTGGACGCCTTTCTCTGGAACGGCAGCATCTACTTCCCCTACTACCCCT
ACAACTAYACGAGCGGCGCTGCCACCGGCTGGCCCAGCATGGCGCGCATCGCGCAGAGCACCGAGGTGCTGTTCCAGGGCCAGGCATCCCTCGACTGCGG
CCACGGCCACCCCGACGGCCGCCGCCTGCTCCTCTCCTCCAGCCTAGTGGAGGCCCTGGACGTCTGGGCGGGAGTGTTCAGCGCGGCCGCTGGAGAGGGC
CAGGAGCGGCGCTCCCCCACCACCACGGCGCTCTGCCTCTTCAGAATGAGTGAGATCCAGGCGCGCGCCAAGAGGGTCAGCTGGGACTTCAAGACGGCCG
AGAGCCACTGCAAAGAAGGGGATCARCCTGAAAGAGTCCAACCAATCGCATCATCTACCTTGATCCATTCCGACCTGACATCCGTTTATGGCACCGTGGT
AATGAACAGGACTGTTTTATTCTTGGGGACTGGAGATGGCCAGTTACTTAAGGTTATTCTTGGTGAGAATTTGACTTCAAATTGTCCAGAGGTTATCTAT
GAAATTAAAGAAGAGACACCTGTTTTCTACAAACTCGTTCCTGATCCTGTGAAGAATATCTACATTTATCTAACAGCTGGGAAAGAGGTGAGGAGAATTC
GTGTTGCAAACTGCAATAAACATAAATCCTGTTCGGAGTGTTTAACAGCCACAGACCCTCACTGCGGTTGGTGCCATTCGCTACAAAGGTGCACTTTTCA
AGGAGATTGTGTACATTCAGAGAACTTASAAAACTGGCTGGATATTTCGTCTGGAGCAAAAAAGTGCCCTAAAATTCAGATAATTCGAAGCAGTAAAGAA
AAGACTACAGTGACTATGGTGGGAAGCTTCTCTCCAAGACACTCAAAGTGCATGGTGAAGAATGTGGACTCTAGCAGGGAGCTCTGCCAGAATAAAAGTC
AGCCCAACCGGACCTGCACCTGTAGCATCCCAACCAGAGCAACCTACAAAGATGTTTCAGTTGTCAACGTGATGTTCTCCTTCGGTTCTTGGAATTTATC
AGACAGATTCAACTTTACCAACTGCTCATCATTAAAAGAATGCCCAGCATGCGTAGAAACTGGCTGCGCGTGGTGTAAAAGTGCAAGAAGGTGTATCCAC
CCCTTCACAGCTTGCGACCCTTCTGATTATGAGAGAAACCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACA
AGGGGAACAGAACCAACCAGGCTTTACAGGTCTTCTACATTAAGTCCATTGAGCCACAGAAAGTATCGACATTAGGGAAAAGCAAYGTGATAGTAACGGG
AGCAAACTTTACCCGGGCATCGAACATCACAATGATCCTGAAAGGAACCAGTACCTGTGATAAGGATGTGATACAGGTTAGCCATGTGCTAAATGACACC
CACATGAAATTCTCTCTTCCATCAAGCCGGAAAGAAATGAAGGATGTGTGTATCCAGTTTGATGGTGGGAACTGCTCTTCTGTGGGATCCTTATCCTACA
TTGCTCTGCCACATTGTTCCCTTATATTTCCTGCTACCACCTGGATCAGTGGTGGTCAAAATATAACCATGATGGGCAGAAATTTTGATGTAATTGACAA
CTTAATCATTTCACATGAATTAAAAGGAAACATAAATGTCTCTGAATATTGTGTGGCGACTTACTGCGGGTTTTTAGCCCCCAGTTTAAAGAGTTCAAAA
GTGCGCACGAATGTCACTGTGAAGCTGAGAGTACAAGACACCTACTTGGATTGTGGAACCCTGCAGTATCGGGAGGACCCCAGATTCACGGGGTATCGGG
TGGAATCCGAGGTGGACACAGAACTGGAAGTGAAAATTCAAAAAGAAAATGACAACTTCAAYATTTCCAAAAAAGACATTGAAATTACTCTCTTCCATGG
GGAAAATGGGCAATTAAATTGCAGTTTTGAAAATATTACTAGAAATCAAGATCTTACCACCATCCTTTGCAAAATTAAAGGCATCAAGACTGCAAGCACC
ATTGCCAACTCTTCTAAGAAAGTTCGGGTCAAGCTGGGAAACCTGGAGCTCTACGTCGAGCAGGAGTCAGTTCCTTCCACRTGGTATTTTCTGATTGTGC
TCCCTGTCTTGCTAGTGATTGTCATTTTTGCGGCCGTGGGGGTGACCAGGCACAAATCGAAGGAGCTGAGTCGCAAACAGAGTCAACAACTAGAATTGCT
GGAAAGCGAGCTCCGGAAAGAGATACGTGACGGCTTTGCTGAGCTGCAGATGGATAAATTGGATGTGGTTGATAGTTTTGGAACTGTTCCCTTCCTTGAC
TACAAACATTTTGCTCTGAGAACTTTCTTCCCTGAGTCAGGTGGCTTCACCCACATCTTCACTGAAGATATGCATAACAGAGAYGCCAACGACAAGAATG
AAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACMCCCTTGAAAAGCARAAGAACTTTTCTGTGAAGGACAG
GTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCATCCTAGAGGTGCTGACCAGGGACTTGATGGAACAGTGT
AGTAACATGCAGCCGAAACTCATGCTGAGACGCACGGAGTCCGTCGTCGAAAAACTCCTCACAAACTGGATGTCCGTCTGCCTTTCTGGATTTCTCCGGG
AGACTGTCGGAGAGCCCTTCTATTTGCTGGTGACGACTCTGAACCAGAAAATTAACAAGGGTCCCGTGGATGTAATCACTTGCAAAGCCCTGTACACACT
TAATGAAGACTGGCTGTTGTGGCAGGTTCCGGAATTCAGTACTGTGGCATTAAACGTCGTCTTTGAAAAAATCCCGGAAAACGAGAGTGCAGATGTCTGT
CGGAATATTTCAGTCAATGTTCTCGACTGTGACACCATTGGCCAAGCCAAAGAAAAGATTTTCCAAGCATTCTTAAGCAAAAATGGCTCTCCTTATGGAC
TTCAGCTTAATGAAATTGGTCTTGAGCTTCAAATGGGCACACGACAGAAAGAACTTCTGGACATCGACAGTTCCTCCGTGATTCTTGAAGATGGAATCAC
CAAGCTAAACACCATTGGCCACTATGAGATATCAAATGGATCCACTATAAAAGTCTTTAAGAAGATAGCAAATTTTACTTCAGATGTGGAGTACTCGGAT
GACCACTGCCATTTGATTTTACCAGATTCGGAAGCATTCCAAGATGTGCAAGGAAAGAGACATCGAGGGAAGCACAAGTTCAAAGTAAAAGAAATGTATC
TGACAAAGCTGCTGTCGACCAAGGTGGCAATTCATTCTGTGCTTGAAAAACTTTTTAGAAGCATTTGGAGTTTACCCAACAGCAGAGCTCCATTTGCTAT
AAAATACTTTTTTGACTTTTTGGACGCCCAGGCTGAAAACAAAAAAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCCYCTTCGC
TTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACATYAAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCATTCATGG
ATGCATTTTCTCTCACAGAGCAGCAACTAGGGAAGGAAGCACCAACTAATAAGCTTCTCTATGCCAAGGATATCCCAACCTACAAAGAAGAAGTAAAATC
TTATTACAAAGCAATCAGGGATTTGCCTCCATTGTCATCCTCAGAAATGGAAGAATTTTTAACTCAGGAATCTAAGAAACATGAAAATGAATTTAATGAA
GAAGTGGCCTTGACAGAAATTTACAAATACATCGTAAAATATTTTGATGAGATTCTAAATAAACTAGAAAGAGAACGAGGGCTGGAAGAAGCTCAGAAAC
AACTCTTGCATGTAAAAGTCTTATTTGATGAAAAGAAGAAATGCAAGTGGATGTAAGCACTCTGGGGCCTGGCTTAATCTGGCAAAGTTCTTCAGACGAC
TTGGGAGCAAAATGGCTGCTTGAGCTACTCTGTGTCGTTAATTTGTTGTTTGCACATAGGTTCCACTTTGGGCACTGTCTTTTTAAGAGACCAAGGCACA
TGCACAGCTTTTAGAAAGC

Protein Sequence    (SEQ ID NO:1331):
MEVSRRKAPPRPPRPAAPLPLLAYLLALAAPGRGADEPVWRSEQAIGAIAASQEDGVFVASGSCLDQLDYSLEHSLSRLYRDQAGNCTEPVSLAPPARPR
PGSSFSKLLLPYREGAAGLGGLLLTGWTFDRGACEVRPLGNLSRNSLRNGTEVVSCHPQGSTAGVVYRAGRNNRWYLAVAATYVLPEPETASRCNPAASD
HDTAIALKDTEGRSLATQELGRLKLCEGAGSLHFVDAFLWNGSIYFPYYPYNYTSGAATGWPSMARIAQSTEVLFQGQASLDCGHGHPDGRRLLLSSSLV
EALDVWAGVFSAAAGEGQERRSPTTTALCLFRMSEIQARAKRVSWDFKTAESHCKEGDQPERVQPIASSTLIHSDLTSVYGTVVMNRTVLFLGTGDGQLL
KVILGENLTSNCPEVIYEIKEETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQRCTFQGDCVHSENLENWLDIS
SGAKKCPKIQIIRSSKEKTTVTMVGSFSPRHSKCMVKNVDSSRELCQNKSQPNRTCTCSIPTRATYKDVSVVNVMFSFGSWNLSDRFNFTNCSSLKECPA
CVETGCAWCKSARRCIHPFTACDPSDYERNQEQCPVAVEKTSGGGRPKENKGNRTNQALQVFYIKSIEPQKVSTLGKSNVIVTGANFTRASNITMILKGT
STCDKDVIQVSHVLNDTHMKFSLPSSRKEMKDVCIQFDGGNCSSVGSLSYIALPHCSLIFPATTWISGGQNITMMGRNFDVIDNLIISHELKGNINVSEY
CVATYCGFLAPSLKSSKVRTNVTVKLRVQDTYLDCGTLQYREDPRFTGYRVESEVDTELEVKIQKENDNFNISKKDIEITLFHGENGQLNCSFENITRNQ
DLTTILCKIKGIKTASTIANSSKKVRVKLGNLELYVEQESVPSTWYFLIVLPVLLVIVIFAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQ
MDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLV
YLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVA
LNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTI
KVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKI
TDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEM
EEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM


SNP Information

Context             (SEQ ID NO:11081):
TGGGGCGCCTCAAGCTGTGCGAGGGCGCGGGCAGCCTGCACTTCGTGGACGCCTTTCTCTGGAACGGCAGCATCTACTTCCCCTACTACCCCTACAACTA
Y
ACGAGCGGCGCTGCCACCGGCTGGCCCAGCATGGCGCGCATCGCGCAGAGCACCGAGGTGCTGTTCCAGGGCCAGGCATCCCTCGACTGCGGCCACGGCC
Celera SNP ID:            hCV3078777
SNP Position Transcript:  1008
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 253, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:11082):
TGAAGATATGCATAACAGAGACGCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCAC
M
CCCTTGAAAAGCAGAAGAACTTTTCTGTGAAGGACAGGTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCAT
Celera SNP ID:            hCV7522340
SNP Position Transcript:  3463
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1331, 1072, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:11083):
GACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCTTCTACATTAAGTCCATTGAGCCACAGAAAGTATCGACATTAGGGAAAAGCAA
Y
GTGATAGTAACGGGAGCAAACTTTACCCGGGCATCGAACATCACAATGATCCTGAAAGGAACCAGTACCTGTGATAAGGATGTGATACAGGTTAGCCATG
Celera SNP ID:            hCV15853379
SNP Position Transcript:  2286
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,7)   caucasian(C,39|T,1)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 679, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 679, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11084):
GCATCAAGACTGCAAGCACCATTGCCAACTCTTCTAAGAAAGTTCGGGTCAAGCTGGGAAACCTGGAGCTCTACGTCGAGCAGGAGTCAGTTCCTTCCAC
R
TGGTATTTTCTGATTGTGCTCCCTGTCTTGCTAGTGATTGTCATTTTTGCGGCCGTGGGGGTGACCAGGCACAAATCGAAGGAGCTGAGTCGCAAACAGA
Celera SNP ID:            hCV1165683
SNP Position Transcript:  3081
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 944, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11085):
CTGTTCGGAGTGTTTAACAGCCACAGACCCTCACTGCGGTTGGTGCCATTCGCTACAAAGGTGCACTTTTCAAGGAGATTGTGTACATTCAGAGAACTTA
S
AAAACTGGCTGGATATTTCGTCTGGAGCAAAAAAGTGCCCTAAAATTCAGATAATTCGAAGCAGTAAAGAAAAGACTACAGTGACTATGGTGGGAAGCTT
Celera SNP ID:            hCV25761656
SNP Position Transcript:  1729
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1331, 494, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:11086):
TGCAGTATCGGGAGGACCCCAGATTCACGGGGTATCGGGTGGAATCCGAGGTGGACACAGAACTGGAAGTGAAAATTCAAAAAGAAAATGACAACTTCAA
Y
ATTTCCAAAAAAGACATTGAAATTACTCTCTTCCATGGGGAAAATGGGCAATTAAATTGCAGTTTTGAAAATATTACTAGAAATCAAGATCTTACCACCA
Celera SNP ID:            hCV15853389
SNP Position Transcript:  2862
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,38|T,2)   total(C,67|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 871, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,2)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 871, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11087):
CGCGCCGCCCTCCCCGCTCTCCTTCCTGGGCGAGCTGCGGGGATGGGGCGGCCGCGGGAGCCCGAGCGCGCGCAGGAACCGCCGCCGCCGCCGCCCGCGT
Y
TCCGTTGCCGCGCGCCTGAGCCGCCGTCGCCGCCGCGCGCCCTGCCCGGGGGCGGCCCCCCCAGCCCCATGGAGGTCTCCCGGAGGAAGGCGCCGCCGCG
Celera SNP ID:            hCV7522432
SNP Position Transcript:  181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1331, None   



Context             (SEQ ID NO:11088):
ACAGAGACGCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACACCCTTGAAAAGCA
R
AAGAACTTTTCTGTGAAGGACAGGTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCATCCTAGAGGTGCTGA
Celera SNP ID:            hCV7522339
SNP Position Transcript:  3477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 1076, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11089):
TTGCTATAAAATACTTTTTTGACTTTTTGGACGCCCAGGCTGAAAACAAAAAAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCC
Y
CTTCGCTTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACATTAAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCAT
Celera SNP ID:            hCV25621907
SNP Position Transcript:  4494
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,23)   total(C,1|T,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 1415, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11090):
CGGCGCTCTGCCTCTTCAGAATGAGTGAGATCCAGGCGCGCGCCAAGAGGGTCAGCTGGGACTTCAAGACGGCCGAGAGCCACTGCAAAGAAGGGGATCA
R
CCTGAAAGAGTCCAACCAATCGCATCATCTACCTTGATCCATTCCGACCTGACATCCGTTTATGGCACCGTGGTAATGAACAGGACTGTTTTATTCTTGG
Celera SNP ID:            hCV25761535
SNP Position Transcript:  1326
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,33|G,1)   total(A,69|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 359, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:11091):
CTGTTCCCTTCCTTGACTACAAACATTTTGCTCTGAGAACTTTCTTCCCTGAGTCAGGTGGCTTCACCCACATCTTCACTGAAGATATGCATAACAGAGA
Y
GCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACACCCTTGAAAAGCAGAAGAACT
Celera SNP ID:            hCV15853390
SNP Position Transcript:  3384
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,4)   caucasian(C,2)   total(C,28|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 1045, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11092):
AAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCCTCTTCGCTTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACAT
Y
AAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCATTCATGGATGCATTTTCTCTCACAGAGCAGCAACTAGGGAAGGAAGCACCAA
Celera SNP ID:            hCV15962676
SNP Position Transcript:  4545
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,95|T,1394)   total(C,95|T,1394) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1331, 1432, (I,ATC)   (I,ATT)      



Gene Number:                 248
Celera Gene:                 hCG40093 - 79000075575650
Celera Transcript:           hCT31347 - 79000075575686
Public Transcript Accession: NM_005761
Celera Protein:              hCP49868 - 197000069413826
Public Protein Accession:    NP_005752
Gene Symbol:                 PLXNC1
Protein Name:                plexin C1;PLXN#;PLXN-C1;VESPR
Celera Genomic Axis:         GA_x5YUV32W46Y(41837557..41995487)
Chromosome:                  Chr12
OMIM number:                 604259
OMIM Information:            PLEXIN C1;PLXNC1


Transcript Sequence (SEQ ID NO:635):
GCGAGGAGGAAACGGTGCCGGAGCGCGCAGGGCTTGCTGCCGCCACCGCCGCTGCACAGGCTGCCGGAGCGAGCCTGCCGCGCGCCGCCCTCCCCGCTCT
CCTTCCTGGGCGAGCTGCGGGGATGGGGCGGCCGCGGGAGCCCGAGCGCGCGCAGGAACCGCCGCCGCCGCCGCCCGCGTYTCCGTTGCCGCGCGCCTGA
GCCGCCGTCGCCGCCGCGCGCCCTGCCCGGGGGCGGCCCCCCCAGCCCCATGGAGGTCTCCCGGAGGAAGGCGCCGCCGCGCCCCCCGCGCCCCGCAGCG
CCACTGCCCCTGCTCGCCTATCTGCTGGCACTGGCGGCTCCCGGCCGGGGCGCGGACGAGCCCGTGTGGCGGTCGGAGCAAGCCATCGGAGCCATCGCGG
CGAGCCAGGAGGACGGCGTGTTTGTGGCGAGCGGCAGCTGCCTGGACCAGCTGGACTACAGCCTGGAGCACAGCCTCTCGCGCCTGTACCGGGACCAAGC
GGGCAACTGCACAGAGCCGGTCTCGCTGGCGCCCCCCGCGCGGCCCCGGCCCGGGAGCAGCTTCAGCAAGCTGCTGCTGCCCTACCGCGAGGGGGCGGCC
GGCCTCGGGGGGCTGCTGCTCACCGGCTGGACCTTCGACCGGGGCGCCTGCGAGGTGCGGCCCCTGGGCAACCTGAGCCGCAACTCCCTGCGCAACGGCA
CCGAGGTGGTGTCGTGCCACCCGCAGGGCTCGACGGCCGGCGTGGTGTACCGCGCGGGCCGGAACAACCGCTGGTACCTGGCGGTGGCCGCCACCTACGT
GCTGCCTGAGCCGGAGACGGCGAGCCGCTGCAACCCCGCGGCATCCGACCACGACACGGCCATCGCGCTCAAGGACACGGAGGGGCGCAGCCTGGCCACG
CAGGAGCTGGGGCGCCTCAAGCTGTGCGAGGGCGCGGGCAGCCTGCACTTCGTGGACGCCTTTCTCTGGAACGGCAGCATCTACTTCCCCTACTACCCCT
ACAACTAYACGAGCGGCGCTGCCACCGGCTGGCCCAGCATGGCGCGCATCGCGCAGAGCACCGAGGTGCTGTTCCAGGGCCAGGCATCCCTCGACTGCGG
CCACGGCCACCCCGACGGCCGCCGCCTGCTCCTCTCCTCCAGCCTAGTGGAGGCCCTGGACGTCTGGGCGGGAGTGTTCAGCGCGGCCGCTGGAGAGGGC
CAGGAGCGGCGCTCCCCCACCACCACGGCGCTCTGCCTCTTCAGAATGAGTGAGATCCAGGCGCGCGCCAAGAGGGTCAGCTGGGACTTCAAGACGGCCG
AGAGCCACTGCAAAGAAGGGGATCARCCTGAAAGAGTCCAACCAATCGCATCATCTACCTTGATCCATTCCGACCTGACATCCGTTTATGGCACCGTGGT
AATGAACAGGACTGTTTTATTCTTGGGGACTGGAGATGGCCAGTTACTTAAGGTTATTCTTGGTGAGAATTTGACTTCAAATTGTCCAGAGGTTATCTAT
GAAATTAAAGAAGAGACACCTGTTTTCTACAAACTCGTTCCTGATCCTGTGAAGAATATCTACATTTATCTAACAGCTGGGAAAGAGGTGAGGAGAATTC
GTGTTGCAAACTGCAATAAACATAAATCCTGTTCGGAGTGTTTAACAGCCACAGACCCTCACTGCGGTTGGTGCCATTCGCTACAAAGGTGCACTTTTCA
AGGAGATTGTGTACATTCAGAGAACTTASAAAACTGGCTGGATATTTCGTCTGGAGCAAAAAAGTGCCCTAAAATTCAGATAATTCGAAGCAGTAAAGAA
AAGACTACAGTGACTATGGTGGGAAGCTTCTCTCCAAGACACTCAAAGTGCATGGTGAAGAATGTGGACTCTAGCAGGGAGCTCTGCCAGAATAAAAGTC
AGCCCAACCGGACCTGCACCTGTAGCATCCCAACCAGAGCAACCTACAAAGATGTTTCAGTTGTCAACGTGATGTTCTCCTTCGGTTCTTGGAATTTATC
AGACAGATTCAACTTTACCAACTGCTCATCATTAAAAGAATGCCCAGCATGCGTAGAAACTGGCTGCGCGTGGTGTAAAAGTGCAAGAAGGTGTATCCAC
CCCTTCACAGCTTGCGACCCTTCTGATTATGAGAGAAACCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACA
AGGGGAACAGAACCAACCAGGCTTTACAGGTCTTCTACATTAAGTCCATTGAGCCACAGAAAGTATCGACATTAGGGAAAAGCAAYGTGATAGTAACGGG
AGCAAACTTTACCCGGGCATCGAACATCACAATGATCCTGAAAGGAACCAGTACCTGTGATAAGGATGTGATACAGGTTAGCCATGTGCTAAATGACACC
CACATGAAATTCTCTCTTCCATCAAGCCGGAAAGAAATGAAGGATGTGTGTATCCAGTTTGATGGTGGGAACTGCTCTTCTGTGGGATCCTTATCCTACA
TTGCTCTGCCACATTGTTCCCTTATATTTCCTGCTACCACCTGGATCAGTGGTGGTCAAAATATAACCATGATGGGCAGAAATTTTGATGTAATTGACAA
CTTAATCATTTCACATGAATTAAAAGGAAACATAAATGTCTCTGAATATTGTGTGGCGACTTACTGCGGGTTTTTAGCCCCCAGTTTAAAGAGTTCAAAA
GTGCGCACGAATGTCACTGTGAAGCTGAGAGTACAAGACACCTACTTGGATTGTGGAACCCTGCAGTATCGGGAGGACCCCAGATTCACGGGGTATCGGG
TGGAATCCGAGGTGGACACAGAACTGGAAGTGAAAATTCAAAAAGAAAATGACAACTTCAAYATTTCCAAAAAAGACATTGAAATTACTCTCTTCCATGG
GGAAAATGGGCAATTAAATTGCAGTTTTGAAAATATTACTAGAAATCAAGATCTTACCACCATCCTTTGCAAAATTAAAGGCATCAAGACTGCAAGCACC
ATTGCCAACTCTTCTAAGAAAGTTCGGGTCAAGCTGGGAAACCTGGAGCTCTACGTCGAGCAGGAGTCAGTTCCTTCCACRTGGTATTTTCTGATTGTGC
TCCCTGTCTTGCTAGTGATTGTCATTTTTGCGGCCGTGGGGGTGACCAGGCACAAATCGAAGGAGCTGAGTCGCAAACAGAGTCAACAACTAGAATTGCT
GGAAAGCGAGCTCCGGAAAGAGATACGTGACGGCTTTGCTGAGCTGCAGATGGATAAATTGGATGTGGTTGATAGTTTTGGAACTGTTCCCTTCCTTGAC
TACAAACATTTTGCTCTGAGAACTTTCTTCCCTGAGTCAGGTGGCTTCACCCACATCTTCACTGAAGATATGCATAACAGAGAYGCCAACGACAAGAATG
AAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACMCCCTTGAAAAGCARAAGAACTTTTCTGTGAAGGACAG
GTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCATCCTAGAGGTGCTGACCAGGGACTTGATGGAACAGTGT
AGTAACATGCAGCCGAAACTCATGCTGAGACGCACGGAGTCCGTCGTCGAAAAACTCCTCACAAACTGGATGTCCGTCTGCCTTTCTGGATTTCTCCGGG
AGACTGTCGGAGAGCCCTTCTATTTGCTGGTGACGACTCTGAACCAGAAAATTAACAAGGGTCCCGTGGATGTAATCACTTGCAAAGCCCTGTACACACT
TAATGAAGACTGGCTGTTGTGGCAGGTTCCGGAATTCAGTACTGTGGCATTAAACGTCGTCTTTGAAAAAATCCCGGAAAACGAGAGTGCAGATGTCTGT
CGGAATATTTCAGTCAATGTTCTCGACTGTGACACCATTGGCCAAGCCAAAGAAAAGATTTTCCAAGCATTCTTAAGCAAAAATGGCTCTCCTTATGGAC
TTCAGCTTAATGAAATTGGTCTTGAGCTTCAAATGGGCACACGACAGAAAGAACTTCTGGACATCGACAGTTCCTCCGTGATTCTTGAAGATGGAATCAC
CAAGCTAAACACCATTGGCCACTATGAGATATCAAATGGATCCACTATAAAAGTCTTTAAGAAGATAGCAAATTTTACTTCAGATGTGGAGTACTCGGAT
GACCACTGCCATTTGATTTTACCAGATTCGGAAGCATTCCAAGATGTGCAAGGAAAGAGACATCGAGGGAAGCACAAGTTCAAAGTAAAAGAAATGTATC
TGACAAAGCTGCTGTCGACCAAGGTGGCAATTCATTCTGTGCTTGAAAAACTTTTTAGAAGCATTTGGAGTTTACCCAACAGCAGAGCTCCATTTGCTAT
AAAATACTTTTTTGACTTTTTGGACGCCCAGGCTGAAAACAAAAAAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCCYCTTCGC
TTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACATYAAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCATTCATGG
ATGCATTTTCTCTCACAGAGCAGCAACTAGGGAAGGAAGCACCAACTAATAAGCTTCTCTATGCCAAGGATATCCCAACCTACAAAGAAGAAGTAAAATC
TTATTACAAAGCAATCAGGGATTTGCCTCCATTGTCATCCTCAGAAATGGAAGAATTTTTAACTCAGGAATCTAAGAAACATGAAAATGAATTTAATGAA
GAAGTGGCCTTGACAGAAATTTACAAATACATCGTAAAATATTTTGATGAGATTCTAAATAAACTAGAAAGAGAACGAGGGCTGGAAGAAGCTCAGAAAC
AACTCTTGCATGTAAAAGTCTTATTTGATGAAAAGAAGAAATGCAAGTGGATGTAAGCACTCTGGGGCCTGGCTTAATCTGGCAAAGTTCTTCAGACGAC
TTGGGAGCAAAATGGCTGCTTGAGCTACTCTGTGTCGTTAATTTGTTGTTTGCACATAGGTTCCACTTTGGGCACTGTCTTTTTAAGAGACCAAGGCACA
TGCACAGCTTTTAGAAAGCTTTAAACCAAAAACTAACAGTGTTGCAACATTGTTGAAAGGGCTCGTGTTTTTCAGTGGTCATCAACTGCACTCCATCAAA
CTCACCTCCATTTCACCAAGGAGCTCTAAAGTAAGGAGAGTGGGCTTTATTTAAATGAACAGCATTTTAACCAGATACTTTGTCCTAATGTATGTTCCTT
TTCTTCATCTGTTTTTTCATACTAAATGTATTTGATAGTGGACATGTTGGATATTATACAAAAAAATCATTAATTCATTTCTGTTCCAAAACCTTTGATC
AGAACGATCTGTGGAAGAGTAACTCCATTTCTATATGAGTGAGTGTCTCCTTGCTTTAGATTTCTGGTGAACCCTGTGGTTATGAATACTTGTGTGTGAT
TTAAAAAAAAAAAGATACATTTTACATTTYATCGAATTGCTGTTCACACTGGAGTATTATATATAAATATATATATTTGAGGCCCAAGGCCTGAAAAATA
TTAGTATACAACTTGGTATCTTAGTCTTACTATGTACTTTTTGAAAGTATTCCTCGCAGGAGAAAGAATTTAAAATACCCATTTTATTCATGCCTTTCTT
TTTAAAGAATTCTCTATCCAGTTATACTGTAGTCTTTTTAGTGCTGATTTTTTAATTCCTGAATTTTTGCTGCTCATGACCAGTTTTAATACCACTGTGT
TTTCCTTCTATTAAACCAGAAGAAGTAAACAGCATAATTGGCAACTCTTGAGCTTTTCTTGTGGCAGGCACCTTTTACCCTTGGTGCTCCAAATCCCC

Protein Sequence    (SEQ ID NO:1332):
MEVSRRKAPPRPPRPAAPLPLLAYLLALAAPGRGADEPVWRSEQAIGAIAASQEDGVFVASGSCLDQLDYSLEHSLSRLYRDQAGNCTEPVSLAPPARPR
PGSSFSKLLLPYREGAAGLGGLLLTGWTFDRGACEVRPLGNLSRNSLRNGTEVVSCHPQGSTAGVVYRAGRNNRWYLAVAATYVLPEPETASRCNPAASD
HDTAIALKDTEGRSLATQELGRLKLCEGAGSLHFVDAFLWNGSIYFPYYPYNYTSGAATGWPSMARIAQSTEVLFQGQASLDCGHGHPDGRRLLLSSSLV
EALDVWAGVFSAAAGEGQERRSPTTTALCLFRMSEIQARAKRVSWDFKTAESHCKEGDQPERVQPIASSTLIHSDLTSVYGTVVMNRTVLFLGTGDGQLL
KVILGENLTSNCPEVIYEIKEETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQRCTFQGDCVHSENLENWLDIS
SGAKKCPKIQIIRSSKEKTTVTMVGSFSPRHSKCMVKNVDSSRELCQNKSQPNRTCTCSIPTRATYKDVSVVNVMFSFGSWNLSDRFNFTNCSSLKECPA
CVETGCAWCKSARRCIHPFTACDPSDYERNQEQCPVAVEKTSGGGRPKENKGNRTNQALQVFYIKSIEPQKVSTLGKSNVIVTGANFTRASNITMILKGT
STCDKDVIQVSHVLNDTHMKFSLPSSRKEMKDVCIQFDGGNCSSVGSLSYIALPHCSLIFPATTWISGGQNITMMGRNFDVIDNLIISHELKGNINVSEY
CVATYCGFLAPSLKSSKVRTNVTVKLRVQDTYLDCGTLQYREDPRFTGYRVESEVDTELEVKIQKENDNFNISKKDIEITLFHGENGQLNCSFENITRNQ
DLTTILCKIKGIKTASTIANSSKKVRVKLGNLELYVEQESVPSTWYFLIVLPVLLVIVIFAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQ
MDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLV
YLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVA
LNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTI
KVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKI
TDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEM
EEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM


SNP Information

Context             (SEQ ID NO:11093):
TGGGGCGCCTCAAGCTGTGCGAGGGCGCGGGCAGCCTGCACTTCGTGGACGCCTTTCTCTGGAACGGCAGCATCTACTTCCCCTACTACCCCTACAACTA
Y
ACGAGCGGCGCTGCCACCGGCTGGCCCAGCATGGCGCGCATCGCGCAGAGCACCGAGGTGCTGTTCCAGGGCCAGGCATCCCTCGACTGCGGCCACGGCC
Celera SNP ID:            hCV3078777
SNP Position Transcript:  1008
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 253, (Y,TAC)   (Y,TAT)      



Context             (SEQ ID NO:11094):
TGAAGATATGCATAACAGAGACGCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCAC
M
CCCTTGAAAAGCAGAAGAACTTTTCTGTGAAGGACAGGTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCAT
Celera SNP ID:            hCV7522340
SNP Position Transcript:  3463
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1332, 1072, (T,ACC)   (P,CCC)      



Context             (SEQ ID NO:11095):
GACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCTTCTACATTAAGTCCATTGAGCCACAGAAAGTATCGACATTAGGGAAAAGCAA
Y
GTGATAGTAACGGGAGCAAACTTTACCCGGGCATCGAACATCACAATGATCCTGAAAGGAACCAGTACCTGTGATAAGGATGTGATACAGGTTAGCCATG
Celera SNP ID:            hCV15853379
SNP Position Transcript:  2286
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,7)   caucasian(C,39|T,1)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 679, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 679, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11096):
GCATCAAGACTGCAAGCACCATTGCCAACTCTTCTAAGAAAGTTCGGGTCAAGCTGGGAAACCTGGAGCTCTACGTCGAGCAGGAGTCAGTTCCTTCCAC
R
TGGTATTTTCTGATTGTGCTCCCTGTCTTGCTAGTGATTGTCATTTTTGCGGCCGTGGGGGTGACCAGGCACAAATCGAAGGAGCTGAGTCGCAAACAGA
Celera SNP ID:            hCV1165683
SNP Position Transcript:  3081
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 944, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11097):
CTGTTCGGAGTGTTTAACAGCCACAGACCCTCACTGCGGTTGGTGCCATTCGCTACAAAGGTGCACTTTTCAAGGAGATTGTGTACATTCAGAGAACTTA
S
AAAACTGGCTGGATATTTCGTCTGGAGCAAAAAAGTGCCCTAAAATTCAGATAATTCGAAGCAGTAAAGAAAAGACTACAGTGACTATGGTGGGAAGCTT
Celera SNP ID:            hCV25761656
SNP Position Transcript:  1729
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(C,1|G,39)   total(C,1|G,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1332, 494, (Q,CAA)   (E,GAA)   



Context             (SEQ ID NO:11098):
TGCAGTATCGGGAGGACCCCAGATTCACGGGGTATCGGGTGGAATCCGAGGTGGACACAGAACTGGAAGTGAAAATTCAAAAAGAAAATGACAACTTCAA
Y
ATTTCCAAAAAAGACATTGAAATTACTCTCTTCCATGGGGAAAATGGGCAATTAAATTGCAGTTTTGAAAATATTACTAGAAATCAAGATCTTACCACCA
Celera SNP ID:            hCV15853389
SNP Position Transcript:  2862
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,38|T,2)   total(C,67|T,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 871, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36|T,2)   total(C,71|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 871, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11099):
CGCGCCGCCCTCCCCGCTCTCCTTCCTGGGCGAGCTGCGGGGATGGGGCGGCCGCGGGAGCCCGAGCGCGCGCAGGAACCGCCGCCGCCGCCGCCCGCGT
Y
TCCGTTGCCGCGCGCCTGAGCCGCCGTCGCCGCCGCGCGCCCTGCCCGGGGGCGGCCCCCCCAGCCCCATGGAGGTCTCCCGGAGGAAGGCGCCGCCGCG
Celera SNP ID:            hCV7522432
SNP Position Transcript:  181
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1332, None   



Context             (SEQ ID NO:11100):
TCTATATGAGTGAGTGTCTCCTTGCTTTAGATTTCTGGTGAACCCTGTGGTTATGAATACTTGTGTGTGATTTAAAAAAAAAAAGATACATTTTACATTT
Y
ATCGAATTGCTGTTCACACTGGAGTATTATATATAAATATATATATTTGAGGCCCAAGGCCTGAAAAATATTAGTATACAACTTGGTATCTTAGTCTTAC
Celera SNP ID:            hCV7522006
SNP Position Transcript:  5530
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1332, None   



Context             (SEQ ID NO:11101):
ACAGAGACGCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACACCCTTGAAAAGCA
R
AAGAACTTTTCTGTGAAGGACAGGTGTCTGTTTGCCTCCTTCCTAACCATTGCACTGCAAACCAAGCTGGTCTACCTGACCAGCATCCTAGAGGTGCTGA
Celera SNP ID:            hCV7522339
SNP Position Transcript:  3477
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 1076, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11102):
TTGCTATAAAATACTTTTTTGACTTTTTGGACGCCCAGGCTGAAAACAAAAAAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCC
Y
CTTCGCTTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACATTAAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCAT
Celera SNP ID:            hCV25621907
SNP Position Transcript:  4494
SNP Source:               Applera
Population(Allele,Count): african american(T,34)   caucasian(C,1|T,23)   total(C,1|T,57)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 1415, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11103):
CGGCGCTCTGCCTCTTCAGAATGAGTGAGATCCAGGCGCGCGCCAAGAGGGTCAGCTGGGACTTCAAGACGGCCGAGAGCCACTGCAAAGAAGGGGATCA
R
CCTGAAAGAGTCCAACCAATCGCATCATCTACCTTGATCCATTCCGACCTGACATCCGTTTATGGCACCGTGGTAATGAACAGGACTGTTTTATTCTTGG
Celera SNP ID:            hCV25761535
SNP Position Transcript:  1326
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,33|G,1)   total(A,69|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 359, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:11104):
CTGTTCCCTTCCTTGACTACAAACATTTTGCTCTGAGAACTTTCTTCCCTGAGTCAGGTGGCTTCACCCACATCTTCACTGAAGATATGCATAACAGAGA
Y
GCCAACGACAAGAATGAAAGTCTCACAGCTTTGGATGCCCTAATCTGTAATAAAAGCTTTCTTGTTACTGTCATCCACACCCTTGAAAAGCAGAAGAACT
Celera SNP ID:            hCV15853390
SNP Position Transcript:  3384
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,4)   caucasian(C,2)   total(C,28|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 1045, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11105):
AAATCACAGATCCTGACGTCGTACATATTTGGAAAACAAACAGCCTTCCTCTTCGCTTCTGGGTAAACATCCTGAAGAACCCTCAGTTTGTCTTTGACAT
Y
AAGAAGACACCACATATAGACGGCTGTTTGTCAGTGATTGCCCAGGCATTCATGGATGCATTTTCTCTCACAGAGCAGCAACTAGGGAAGGAAGCACCAA
Celera SNP ID:            hCV15962676
SNP Position Transcript:  4545
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,95|T,1394)   total(C,95|T,1394) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1332, 1432, (I,ATC)   (I,ATT)      



Gene Number:                 249
Celera Gene:                 hCG401253 - 79000075389940
Celera Transcript:           hCT1966260 - 79000075389941
Public Transcript Accession: NM_001849
Celera Protein:              hCP1779795 - 197000064955260
Public Protein Accession:    NP_001840
Gene Symbol:                 COL6A2
Protein Name:                collagen, type VI, alpha 2;DKFZp586E1322;PP3610
Celera Genomic Axis:         GA_x5YUV32W8NG(554311..586836)
Chromosome:                  Chr21
OMIM number:                 120240
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-2;COL6A2


Transcript Sequence (SEQ ID NO:636):
CGGCCGCGGTTCCCTCCCTGCTGCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCACAGGTGCTGC
CAAGATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAG
AGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCC
TGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTAYGGCGGCCT
GCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACC
TTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCA
CCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCA
GGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCYGACTCCACCGAGATCRACCAGGACACCATCAAC
CGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGAC
AGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGARAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACC
CAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAG
AAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGC
GAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAR
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGYGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
GGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGG
GAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCRGGGAGACCCCGGTGATGCAGGACCCCGTGG
AGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGGAGAAAAAGGCGAGCCCGGCCCA
CGCGGCCCCGAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGCGGATCCTGGTCCCCCTGGTGAGC
CAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGAGTGTGACGTCATGACCTACGTGAG
GGAGACCTGCGGGTGCTGCGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACA
CTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACA
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACRTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCRGG
YGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGSCARAAGACACGTGTGTTTGCGGTRGTCATCACGGAC
GGGCGCCACGACCCTCGGGACGAYGACCTCAACTTGCGGGCGCTGTGCGAYCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGA
AGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGA
TGACATGGAGGACGTCCTCTGCCCGGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGATGCACCGTGGCCTGGCGGCGAGCCCCCGGTCACC
TTCCTCCGCACGGAAGAGGGGCCGGACGCCACCTTCCCCAGGACCATTCCCCTGATCCAACAGTTGCTAAACGCCACGGAGCTCACGCAGGACCCGGCCG
CCTACTCCCAGCTGGTGGCCGTGCTGGTCTACACCGCCGAGCGGGCCAAGTTCGCCACCGGGGTAGAGCGGCAGGACTGGATGGAGCTGTTCATTGACAC
CTTTAAGCTGGTGCACAGGGACATCGTGGGGGACCCCGAGACCGCGCTGGCCCTCTGCTAAAGCCCGGGCACCCGCCCAGCCGGGCTGGGCCCTCCCTGC
CACACTAGCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCSGGGTCAGCGGGGCTACRGTCCTTCCAGGGGCTCT
GGGGCAGCTCCCAGCCTCTTCCCAYGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTYTCTCCTCCGTCTTCCWGTGGCCGCTCTCTTT
ATAAGAACCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTCACTCCC

Protein Sequence    (SEQ ID NO:1333):
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLH
FSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQG
LRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNNG
APGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGD
SGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDEHIDSLSSFKEAVKNLEWIAGG
TWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDD
MEDVLCPDPQIVCPDLPCQTDAPWPGGEPPVTFLRTEEGPDATFPRTIPLIQQLLNATELTQDPAAYSQLVAVLVYTAERAKFATGVERQDWMELFIDTF
KLVHRDIVGDPETALALC


SNP Information

Context             (SEQ ID NO:11106):
GGGCTGGGCCCTCCCTGCCACACTAGCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCGGGGTCAGCGGGGCTAC
R
GTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTC
Celera SNP ID:            hCV27511048
SNP Position Transcript:  2983
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1333, None   



Context             (SEQ ID NO:11107):
CCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCGGGGTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCA
Y
GCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTCCTGTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTA
Celera SNP ID:            hCV11958099
SNP Position Transcript:  3025
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1333, None   



Context             (SEQ ID NO:11108):
TCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCG
S
CAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAG
Celera SNP ID:            hCV25622503
SNP Position Transcript:  2264
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 720, (R,CGC)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,40)   total(C,71|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 720, (R,CGC)   (R,CGG)   



Context             (SEQ ID NO:11109):
AGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCA
R
AAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGA
Celera SNP ID:            hCV25622504
SNP Position Transcript:  2267
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,33)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 721, (Q,CAA)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(G,36)   total(A,3|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 721, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:11110):
CGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACA
R
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
Celera SNP ID:            hCV2811363
SNP Position Transcript:  1300
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,32|G,8)   total(A,53|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 399, (N,AAT)   (S,AGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 399, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:11111):
CGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTA
Y
GGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCC
Celera SNP ID:            hCV25622521
SNP Position Transcript:  392
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,40)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 96, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11112):
TCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGA
Y
GACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACT
Celera SNP ID:            hCV25622505
SNP Position Transcript:  2324
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,37)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 740, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(C,1|T,37)   total(C,1|T,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 740, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11113):
TCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCC
Y
GACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCC
Celera SNP ID:            hCV25622522
SNP Position Transcript:  767
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,38|T,2)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 221, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11114):
GCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAAC
R
TATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGC
Celera SNP ID:            hCV2811372
SNP Position Transcript:  2143
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 680, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 680, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11115):
AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGA
Y
CGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGG
Celera SNP ID:            hCV27469495
SNP Position Transcript:  2351
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 749, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:11116):
ACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGC
R
GGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGG
Celera SNP ID:            hCV2811373
SNP Position Transcript:  2198
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 698, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,5)   total(G,1|A,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 698, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11117):
CCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATC
R
ACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCC
Celera SNP ID:            hCV25622523
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 227, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:11118):
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGG
Y
GGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACG
Celera SNP ID:            hCV2811374
SNP Position Transcript:  2201
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,7)   caucasian(C,20|T,18)   total(C,43|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 699, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 699, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:11119):
CGGGCACCCGCCCAGCCGGGCTGGGCCCTCCCTGCCACACTAGCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATC
S
GGGTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCA
Celera SNP ID:            hCV2811382
SNP Position Transcript:  2966
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|G,3)      total(G,3|C,1) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1333, None   



Context             (SEQ ID NO:11120):
AGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGT
R
GTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACA
Celera SNP ID:            hCV2811375
SNP Position Transcript:  2288
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,12|G,24)   total(A,15|G,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 728, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,12|G,24)   total(A,18|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 728, (V,GTA)   (V,GTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 728, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11121):
TCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTCC
W
GTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTCACTCCC
Celera SNP ID:            hCV2811383
SNP Position Transcript:  3085
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1333, None   



Context             (SEQ ID NO:11122):
GTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGT
Y
TCTCCTCCGTCTTCCTGTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTC
Celera SNP ID:            hCV16007229
SNP Position Transcript:  3069
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1333, None   



Context             (SEQ ID NO:11123):
AGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGA
R
AGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGA
Celera SNP ID:            hCV25622528
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 278, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11124):
GCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTC
R
GGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGA
Celera SNP ID:            hCV25622491
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,38)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1333, 489, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11125):
CGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAATGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCG
Y
GGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGG
Celera SNP ID:            hCV25622484
SNP Position Transcript:  1355
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1333, 417, (R,CGC)   (R,CGT)   



Gene Number:                 249
Celera Gene:                 hCG401253 - 79000075389940
Celera Transcript:           hCT401257 - 79000075392044
Public Transcript Accession: NM_001849
Celera Protein:              hCP801166 - 197000064955262
Public Protein Accession:    NP_001840
Gene Symbol:                 COL6A2
Protein Name:                collagen, type VI, alpha 2;DKFZp586E1322;PP3610
Celera Genomic Axis:         GA_x5YUV32W8NG(551264..586836)
Chromosome:                  Chr21
OMIM number:                 120240
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-2;COL6A2


Transcript Sequence (SEQ ID NO:637):
CGGCCGCGGTTCCCTCCCTGCTGCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCACAGGTGCTGC
CAAGATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAG
AGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCC
TGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTAYGGCGGCCT
GCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACC
TTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCA
CCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCA
GGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCYGACTCCACCGAGATCRACCAGGACACCATCAAC
CGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGAC
AGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGARAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACC
CAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAG
AAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGC
GAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAR
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGYGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
GGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGG
GAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCRGGGAGACCCCGGTGATGCAGGACCCCGTGG
AGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGGAGAAAAAGGCGAGCCCGGCCCA
CGCGGCCCCGAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGCGGATCCTGGTCCCCCTGGTGAGC
CAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGAGTGTGACGTCATGACCTACGTGAG
GGAGACCTGCGGGTGCTGCGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACA
CTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACA
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACRTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCRGG
YGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGSCARAAGACACGTGTGTTTGCGGTRGTCATCACGGAC
GGGCGCCACGACCCTCGGGACGAYGACCTCAACTTGCGGGCGCTGTGCGAYCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGA
AGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGA
TGACATGGAGGACGTCCTCTGCCCGGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGAGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTG
GACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACRCTGG
CCCRGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCAC
KGCCATCCACGAGGCGCTGGAGACCACRCAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCG
CGTGGCRGGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCA
AGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGYGCCRCCGTGTTCCACGA
GAAGGACTATGACAGCCTGGCRCAACCCRGCTTCTTCGACCGCTTCMTCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAG
CCCACCCYGTCCATGGTGCKAAGCRGGCCSGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCYGCRCCTYTCCAGCTCCTCCC
ACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCCATCCCAAGGCTCC
TGACCTACCTGGCCCCTGAGCTCTGGAGCAAGCCCTGACCCAATAAAGGCTTTGAACCCATTGC

Protein Sequence    (SEQ ID NO:1334):
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLH
FSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQG
LRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNNG
APGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGD
SGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDEHIDSLSSFKEAVKNLEWIAGG
TWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDD
MEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEK
DYDSLAQPGFFDRFIRWIC


SNP Information

Context             (SEQ ID NO:11126):
TCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCG
S
CAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAG
Celera SNP ID:            hCV25622503
SNP Position Transcript:  2264
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 720, (R,CGC)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,40)   total(C,71|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 720, (R,CGC)   (R,CGG)   



Context             (SEQ ID NO:11127):
AGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCA
R
AAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGA
Celera SNP ID:            hCV25622504
SNP Position Transcript:  2267
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,33)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 721, (Q,CAA)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(G,36)   total(A,3|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 721, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:11128):
TCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGA
Y
GACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACT
Celera SNP ID:            hCV25622505
SNP Position Transcript:  2324
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,37)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 740, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(C,1|T,37)   total(C,1|T,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 740, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11129):
CGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTA
Y
GGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCC
Celera SNP ID:            hCV25622521
SNP Position Transcript:  392
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,40)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 96, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11130):
ACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGC
R
GGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCC
Celera SNP ID:            hCV9520169
SNP Position Transcript:  3225
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,28)   caucasian(A,1|G,39)   total(A,5|G,67)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None   



Context             (SEQ ID NO:11131):
TCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCC
Y
GACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCC
Celera SNP ID:            hCV25622522
SNP Position Transcript:  767
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,38|T,2)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 221, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11132):
GCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAAC
R
TATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGC
Celera SNP ID:            hCV2811372
SNP Position Transcript:  2143
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 680, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 680, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11133):
AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGA
Y
CGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGG
Celera SNP ID:            hCV27469495
SNP Position Transcript:  2351
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 749, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:11134):
ACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGC
R
GGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGG
Celera SNP ID:            hCV2811373
SNP Position Transcript:  2198
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 698, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,5)   total(G,1|A,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 698, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11135):
CCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATC
R
ACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCC
Celera SNP ID:            hCV25622523
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 227, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:11136):
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGG
Y
GGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACG
Celera SNP ID:            hCV2811374
SNP Position Transcript:  2201
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,7)   caucasian(C,20|T,18)   total(C,43|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 699, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 699, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:11137):
AGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGT
R
GTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACA
Celera SNP ID:            hCV2811375
SNP Position Transcript:  2288
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,12|G,24)   total(A,15|G,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 728, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,12|G,24)   total(A,18|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 728, (V,GTA)   (V,GTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 728, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11138):
AGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGA
R
AGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGA
Celera SNP ID:            hCV25622528
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 278, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11139):
GCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTC
R
GGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGA
Celera SNP ID:            hCV25622491
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,38)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 489, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11140):
GCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGC
R
CCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGC
Celera SNP ID:            hCV9520170
SNP Position Transcript:  3283
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None   



Context             (SEQ ID NO:11141):
TCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCT
Y
TCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCC
Celera SNP ID:            hCV9520171
SNP Position Transcript:  3287
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None   



Context             (SEQ ID NO:11142):
CCGTGGACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGAC
R
CTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACC
Celera SNP ID:            hCV9520158
SNP Position Transcript:  2696
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 864, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11143):
CGGCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCG
Y
GCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCG
Celera SNP ID:            hCV9520159
SNP Position Transcript:  3083
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,31|T,7)   total(C,65|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 993, (R,CGC)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 993, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:11144):
ATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACGCTGGCCC
R
GAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCC
Celera SNP ID:            hCV25622511
SNP Position Transcript:  2704
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,34)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 867, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11145):
CGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACA
R
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
Celera SNP ID:            hCV2811363
SNP Position Transcript:  1300
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,32|G,8)   total(A,53|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 399, (N,AAT)   (S,AGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 399, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:11146):
CCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCAC
K
GCCATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGC
Celera SNP ID:            hCV25622513
SNP Position Transcript:  2801
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(G,30|T,2)   total(G,68|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 899, (T,ACG)   (T,ACT)   



Context             (SEQ ID NO:11147):
CACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCCATCCACGAGGCGCTGGAGACCAC
R
CAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCAGAGC
Celera SNP ID:            hCV25472676
SNP Position Transcript:  2828
SNP Source:               Applera
Population(Allele,Count): african american(A,25|G,11)   caucasian(A,26|G,2)   total(A,51|G,13)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 908, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,10)   caucasian(A,28|G,4)   total(A,50|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 908, (T,ACA)   (T,ACG)   



Context             (SEQ ID NO:11148):
CCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGC
R
GGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCAAGCAGAA
Celera SNP ID:            hCV25622514
SNP Position Transcript:  2907
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,2|G,38)   total(A,5|G,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 935, (R,AGG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,34)   caucasian(A,2|G,26)   total(A,6|G,60)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 935, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:11149):
TGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGC
R
CAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAA
Celera SNP ID:            hCV25622515
SNP Position Transcript:  3122
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,39)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 1006, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:11150):
CTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCC
R
GCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCC
Celera SNP ID:            hCV25622516
SNP Position Transcript:  3129
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 1009, (S,AGC)   (G,GGC)   



Context             (SEQ ID NO:11151):
TATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCC
Y
GTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTC
Celera SNP ID:            hCV25622517
SNP Position Transcript:  3208
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,37|T,1)   total(C,71|T,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None



Context             (SEQ ID NO:11152):
CATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTC
M
TCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAG
Celera SNP ID:            hCV2811384
SNP Position Transcript:  3147
SNP Source:               Applera
Population(Allele,Count): african american(A,33|C,3)   caucasian(A,40)   total(A,73|C,3)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 1015, (I,ATC)   (L,CTC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|A,4)   total(A,4|C,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 1015, (I,ATC)   (L,CTC)      



Context             (SEQ ID NO:11153):
GCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCC
S
GGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCC
Celera SNP ID:            hCV25622518
SNP Position Transcript:  3230
SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,38)   total(C,69|G,1)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None



Context             (SEQ ID NO:11154):
GCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCC
R
CCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGT
Celera SNP ID:            hCV25622519
SNP Position Transcript:  3087
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1334, 995, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:11155):
GCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGC
K
AAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCG
Celera SNP ID:            hCV25474692
SNP Position Transcript:  3220
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,27)   caucasian(G,2|T,28)   total(G,3|T,55)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None



Context             (SEQ ID NO:11156):
CGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAATGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCG
Y
GGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGG
Celera SNP ID:            hCV25622484
SNP Position Transcript:  1355
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1334, 417, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11157):
CCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCC
Y
GCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCC
Celera SNP ID:            hCV16006681
SNP Position Transcript:  3280
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1334, None   



Gene Number:                 249
Celera Gene:                 hCG401253 - 79000075389940
Celera Transcript:           hCT1966259 - 79000075392012
Public Transcript Accession: NM_001849
Celera Protein:              hCP1779791 - 197000064955261
Public Protein Accession:    NP_001840
Gene Symbol:                 COL6A2
Protein Name:                collagen, type VI, alpha 2;DKFZp586E1322;PP3610
Celera Genomic Axis:         GA_x5YUV32W8NG(554311..586836)
Chromosome:                  Chr21
OMIM number:                 120240
OMIM Information:            COLLAGEN, TYPE VI, ALPHA-2;COL6A2


Transcript Sequence (SEQ ID NO:638):
CGGCCGCGGTTCCCTCCCTGCTGCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCACAGGTGCTGC
CAAGATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAG
AGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCC
TGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTAYGGCGGCCT
GCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACC
TTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCA
CCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCA
GGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCYGACTCCACCGAGATCRACCAGGACACCATCAAC
CGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGAC
AGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGARAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACC
CAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAG
AAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGC
GAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAR
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGYGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
GGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGG
GAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCRGGGAGACCCCGGTGATGCAGGACCCCGTGG
AGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGGAGAAAAAGGCGAGCCCGGCCCA
CGCGGCCCCGAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGCGGATCCTGGTCCCCCTGGTGAGC
CAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGAGTGTGACGTCATGACCTACGTGAG
GGAGACCTGCGGGTGCTGCGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACA
CTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACA
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACRTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCRGG
YGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGSCARAAGACACGTGTGTTTGCGGTRGTCATCACGGAC
GGGCGCCACGACCCTCGGGACGAYGACCTCAACTTGCGGGCGCTGTGCGAYCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGA
AGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGA
TGACATGGAGGACGTCCTCTGCCCGGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTTTGGACGGAGCTGTTTTGTGCTGAAAGGTTTTC
TCGGGGTCCGTGGTGTCCCCCAAAGGTGCCACCGTGCGGGTCTCCTAGCTCCCTGCCAGCTTCCTGTCCCTGTGCTCACTGCCCCCACGCCTCCTGCCAA
GGCCGAGCCACACACCCGCTCCACCTGCATTTCCTCTACCGACTCGCCAGCCCAAATGCCGCTCTTCACTCTGGCCTCGCTGAGCGGCTGCCCGAGGAGG
AGCTCTAGGCCGACGCCCACCGCAGGCCTTACAGTCTTCTCTGGACGCTCCCTTGCAGATGCACCGTGGCCTGGCGGCGAGCCCCCGGTCACCTTCCTCC
GCACGGAAGAGGGGCCGGACGCCACCTTCCCCAGGACCATTCCCCTGATCCAACAGTTGCTAAACGCCACGGAGCTCACGCAGGACCCGGCCGCCTACTC
CCAGCTGGTGGCCGTGCTGGTCTACACCGCCGAGCGGGCCAAGTTCGCCACCGGGGTAGAGCGGCAGGACTGGATGGAGCTGTTCATTGACACCTTTAAG
CTGGTGCACAGGGACATCGTGGGGGACCCCGAGACCGCGCTGGCCCTCTGCTAAAGCCCGGGCACCCGCCCAGCCGGGCTGGGCCCTCCCTGCCACACTA
GCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCSGGGTCAGCGGGGCTACRGTCCTTCCAGGGGCTCTGGGGCAG
CTCCCAGCCTCTTCCCAYGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTYTCTCCTCCGTCTTCCWGTGGCCGCTCTCTTTATAAGAA
CCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTCACTCCC

Protein Sequence    (SEQ ID NO:1335):
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLH
FSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQG
LRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNNG
APGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGD
SGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDEHIDSLSSFKEAVKNLEWIAGG
TWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDD
MEDVLCPDPQIVCPDLPCQTGLDGAVLC


SNP Information

Context             (SEQ ID NO:11158):
GGGCTGGGCCCTCCCTGCCACACTAGCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCGGGGTCAGCGGGGCTAC
R
GTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTC
Celera SNP ID:            hCV27511048
SNP Position Transcript:  3276
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1335, None   



Context             (SEQ ID NO:11159):
CCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATCGGGGTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCA
Y
GCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTCCTGTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTA
Celera SNP ID:            hCV11958099
SNP Position Transcript:  3318
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1335, None   



Context             (SEQ ID NO:11160):
TCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCG
S
CAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAG
Celera SNP ID:            hCV25622503
SNP Position Transcript:  2264
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,36)   total(C,71|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 720, (R,CGC)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,31|G,1)   caucasian(C,40)   total(C,71|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 720, (R,CGC)   (R,CGG)   



Context             (SEQ ID NO:11161):
AGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCA
R
AAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGA
Celera SNP ID:            hCV25622504
SNP Position Transcript:  2267
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,31)   caucasian(A,3|G,33)   total(A,6|G,64)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 721, (Q,CAA)   (Q,CAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(G,36)   total(A,3|G,61)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 721, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:11162):
CGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACA
R
TGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAG
Celera SNP ID:            hCV2811363
SNP Position Transcript:  1300
SNP Source:               Applera
Population(Allele,Count): african american(A,21|G,17)   caucasian(A,32|G,8)   total(A,53|G,25)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 399, (N,AAT)   (S,AGT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,5)      total(G,2|A,5) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 399, (N,AAT)   (S,AGT)      



Context             (SEQ ID NO:11163):
CGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTA
Y
GGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCC
Celera SNP ID:            hCV25622521
SNP Position Transcript:  392
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,40)   total(C,69|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 96, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11164):
TCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGA
Y
GACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACT
Celera SNP ID:            hCV25622505
SNP Position Transcript:  2324
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,37)   total(C,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 740, (D,GAC)   (D,GAT)   

SNP Source:               Applera
Population(Allele,Count): african american(T,30)   caucasian(C,1|T,37)   total(C,1|T,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 740, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11165):
TCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCC
Y
GACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCC
Celera SNP ID:            hCV25622522
SNP Position Transcript:  767
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,4)   caucasian(C,38|T,2)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 221, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11166):
GCCATCGCTAAGGACCCCAAGTCCGAGACAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAAC
R
TATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGC
Celera SNP ID:            hCV2811372
SNP Position Transcript:  2143
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 680, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 680, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11167):
AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGA
Y
CGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGG
Celera SNP ID:            hCV27469495
SNP Position Transcript:  2351
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 749, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:11168):
ACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGC
R
GGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGG
Celera SNP ID:            hCV2811373
SNP Position Transcript:  2198
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,18|G,20)   total(A,25|G,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 698, (A,GCA)   (A,GCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,5)   total(G,1|A,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 698, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11169):
CCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATC
R
ACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCC
Celera SNP ID:            hCV25622523
SNP Position Transcript:  783
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(A,1|G,39)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 227, (N,AAC)   (D,GAC)   



Context             (SEQ ID NO:11170):
GCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACATATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCAGG
Y
GGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACG
Celera SNP ID:            hCV2811374
SNP Position Transcript:  2201
SNP Source:               Applera
Population(Allele,Count): african american(C,23|T,7)   caucasian(C,20|T,18)   total(C,43|T,25)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 699, (G,GGC)   (G,GGT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,5)   total(C,1|T,5) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 699, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:11171):
CGGGCACCCGCCCAGCCGGGCTGGGCCCTCCCTGCCACACTAGCTTCCCAGGGCTGCCCCCGACAGGCTGGCTCTCAGTGGAGGCCAGAGATCTGGAATC
S
GGGTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCA
Celera SNP ID:            hCV2811382
SNP Position Transcript:  3259
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|G,3)      total(G,3|C,1) ;no_pop(C,-|G,-)   ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1335, None   



Context             (SEQ ID NO:11172):
AGTGGATTGCAGGTGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGT
R
GTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACA
Celera SNP ID:            hCV2811375
SNP Position Transcript:  2288
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,25)   caucasian(A,12|G,24)   total(A,15|G,49)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 728, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,12|G,24)   total(A,18|G,54)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 728, (V,GTA)   (V,GTG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 728, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11173):
TCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGTCTCTCCTCCGTCTTCC
W
GTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTCACTCCC
Celera SNP ID:            hCV2811383
SNP Position Transcript:  3378
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,2)      total(A,2|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1335, None   



Context             (SEQ ID NO:11174):
GTCAGCGGGGCTACAGTCCTTCCAGGGGCTCTGGGGCAGCTCCCAGCCTCTTCCCATGCTGGTGGCCACCGTGTCCCTTGCTGCGGCTGCATCTTCCAGT
Y
TCTCCTCCGTCTTCCTGTGGCCGCTCTCTTTATAAGAACCCTGGTCATTGAATTTAAGGCCCACCCCAAGTCCAGAATGACCTCGCAAGACCCTTAACTC
Celera SNP ID:            hCV16007229
SNP Position Transcript:  3362
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1335, None   



Context             (SEQ ID NO:11175):
AGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGA
R
AGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGA
Celera SNP ID:            hCV25622528
SNP Position Transcript:  936
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 278, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11176):
GCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTC
R
GGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGA
Celera SNP ID:            hCV25622491
SNP Position Transcript:  1570
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(G,38)   total(A,2|G,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1335, 489, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11177):
CGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAATGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCG
Y
GGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGG
Celera SNP ID:            hCV25622484
SNP Position Transcript:  1355
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1335, 417, (R,CGC)   (R,CGT)   



Gene Number:                 250
Celera Gene:                 hCG40181 - 83000099172069
Celera Transcript:           hCT31435 - 83000099172070
Public Transcript Accession: NM_001836
Celera Protein:              hCP50006 - 197000069452864
Public Protein Accession:    NP_001827
Gene Symbol:                 CMA1
Protein Name:                chymase 1, mast cell;CYH;MCT1
Celera Genomic Axis:         GA_x5YUV32VVQK(28266055..28268948)
Chromosome:                  Chr14
OMIM number:                 118938
OMIM Information:            CHYMASE 1;CMA1


Transcript Sequence (SEQ ID NO:639):
TCTGGGAAGATGCTGCTTCTTCCTCTCCCCCTGCTGCTCTTTCTCTTGTGCTCCAGAGCTGAAGCTGGGGAGATCATCGGGGGCACAGAATGCAAGCCAC
ATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAACSGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGC
TGCTCRTTGTGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCAGAAGCTTGAGGTTATAAAGCAATTC
CGTCATCCAAAATATAACACTTCTACTCTTCACCACGATATCATGTTACTAAAGTTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCT
TCCCATCMCAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGA
GGYGAAGCTGAGACTCATGGATCCCCAGGCCTGCAGCCACTTCAGAGACTTTGACCACAATCTTCAGCTGTGTGTGGGCAATCCCAGGAAGACAAAATCT
GCATTTAAGGGAGACTCTGGGGGCCCTCTTCTGTGTGCTGGGGTGGCCCAGGGCATCGTATCCTATGGACGGTCGGATGCAAAGCCCCCTGCTGTCTTCA
CCCGAATCTCCCATTACCGGCCCTGGATCAACCAGATCCTGCAGGCAAATTAATCCTGGATCCTGAGCCAGCCTGAAAGGGAAGCTGGAACTGGACCTGA
GCAGCAAAGTGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAAYCCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAA
CCTCAGTGAAGACACAG

Protein Sequence    (SEQ ID NO:1336):
MLLLPLPLLLFLLCSRAEAGEIIGGTECKPHSRPYMAYLEIVTSNGPSKFCGGFLIRRNFVLTAAHCAGRSITVTLGAHNITEEEDTWQKLEVIKQFRHP
KYNTSTLHHDIMLLKLKEKASLTLAVGTLPFPSQFNFVPPGRMCRVAGWGRTGVLKPGSDTLQEVKLRLMDPQACSHFRDFDHNLQLCVGNPRKTKSAFK
GDSGGPLLCAGVAQGIVSYGRSDAKPPAVFTRISHYRPWINQILQAN


SNP Information

Context             (SEQ ID NO:11178):
CAAAATATAACACTTCTACTCTTCACCACGATATCATGTTACTAAAGTTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCTTCCCATC
M
CAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGGTGAAGC
Celera SNP ID:            hCV11431466
SNP Position Transcript:  408
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(C,4|A,76)      total(A,76|C,4) ;HYP1(C,4|A,76)   total(A,76|C,4)no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1336, 133, (S,TCA)   (S,TCC)      133, (S,TCC)   (S,TCA)      



Context             (SEQ ID NO:11179):
CGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAACGGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTC
R
TTGTGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCAGAAGCTTGAGGTTATAAAGCAATTCCGTCAT
Celera SNP ID:            hCV11431467
SNP Position Transcript:  206
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1336, 66, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(G,6|A,61)      total(G,6|A,61) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1336, 66, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11180):
CCATCACAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGG
Y
GAAGCTGAGACTCATGGATCCCCAGGCCTGCAGCCACTTCAGAGACTTTGACCACAATCTTCAGCTGTGTGTGGGCAATCCCAGGAAGACAAAATCTGCA
Celera SNP ID:            hCV29358353
SNP Position Transcript:  503
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1336, 165, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:11181):
CTTGTGCTCCAGAGCTGAAGCTGGGGAGATCATCGGGGGCACAGAATGCAAGCCACATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAAC
S
GTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTCATTGTGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCA
Celera SNP ID:            hCV11431468
SNP Position Transcript:  145
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(C,3|G,64)      total(G,64|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1336, 46, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:11182):
TCCTGGATCCTGAGCCAGCCTGAAAGGGAAGCTGGAACTGGACCTGAGCAGCAAAGTGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAA
Y
CCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAACCTCAGTGAAGACACAG
Celera SNP ID:            hCV11714593
SNP Position Transcript:  854
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;40 Africans; 32 white Americans; 2 CEPH individuals(T,29|C,118)      total(C,118|T,29);HYP3(T,30|C,118)   total(C,118|T,30)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1336, None   



Gene Number:                 250
Celera Gene:                 hCG40181 - 83000099172069
Celera Transcript:           hCT2305368 - 83000099172079
Public Transcript Accession: NM_001836
Celera Protein:              hCP1899601 - 197000069452865
Public Protein Accession:    NP_001827
Gene Symbol:                 CMA1
Protein Name:                chymase 1, mast cell;CYH;MCT1
Celera Genomic Axis:         GA_x5YUV32VVQK(28266064..28268948)
Chromosome:                  Chr14
OMIM number:                 118938
OMIM Information:            CHYMASE 1;CMA1


Transcript Sequence (SEQ ID NO:640):
ATGCTGCTTCTTCCTCTCCCCCTGCTGCTCTTTCTCTTGTGCTCCAGAGCTGAAGCTGGGGAGATCATCGGGGGCACAGAATGCAAGCCACATTCCCGCC
CCTACATGGCCTACCTGGAAATTGTAACTTCCAACSGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTCRTTG
TGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCAGAAGCTTGAGGTTATAAAGCAATTCCGTCATCCA
AAATATAACACTTCTACTCTTCACCACGATATCATGTTACTAAAGTTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCTTCCCATCMC
AATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGGYGAAGCT
GAGACTCATGGATCCCCAGGCCTGCAGCCACTTCAGAGACTTTGACCACAATCTTCAGCTGTGTGTGGGCAATCCCAGGAAGACAAAATCTGCATTTAAG
GGAGACTCTGGGGGCCCTCTTCTGTGTGCTGGGGTGGCCCAGGGCATCGTATCCTATGGACGGTCGGATGCAAAGCCCCCTGCTGTCTTCACCCGAATCT
CCCATTACCGGCCCTGGATCAACCAGATCCTGCAGGCAAATTAATCCTGGATCCTGAGCCAGCCTGAAAGGGAAGCTGGAACTGGACCTGAGCAGCAAAG
TGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAAYCCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAACCTCAGTGA
AGACACAG

Protein Sequence    (SEQ ID NO:1337):
MLLLPLPLLLFLLCSRAEAGEIIGGTECKPHSRPYMAYLEIVTSNGPSKFCGGFLIRRNFVLTAAHCAGRSITVTLGAHNITEEEDTWQKLEVIKQFRHP
KYNTSTLHHDIMLLKLKEKASLTLAVGTLPFPSQFNFVPPGRMCRVAGWGRTGVLKPGSDTLQEVKLRLMDPQACSHFRDFDHNLQLCVGNPRKTKSAFK
GDSGGPLLCAGVAQGIVSYGRSDAKPPAVFTRISHYRPWINQILQAN


SNP Information

Context             (SEQ ID NO:11183):
CAAAATATAACACTTCTACTCTTCACCACGATATCATGTTACTAAAGTTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCTTCCCATC
M
CAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGGTGAAGC
Celera SNP ID:            hCV11431466
SNP Position Transcript:  399
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Africans from Harare, Zimbabwe(C,4|A,76)      total(A,76|C,4) ;HYP1(C,4|A,76)   total(A,76|C,4)no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1337, 133, (S,TCA)   (S,TCC)      133, (S,TCC)   (S,TCA)      



Context             (SEQ ID NO:11184):
CGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAACGGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTC
R
TTGTGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCAGAAGCTTGAGGTTATAAAGCAATTCCGTCAT
Celera SNP ID:            hCV11431467
SNP Position Transcript:  197
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1337, 66, (H,CAT)   (R,CGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(G,6|A,61)      total(G,6|A,61) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1337, 66, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11185):
CCATCACAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGG
Y
GAAGCTGAGACTCATGGATCCCCAGGCCTGCAGCCACTTCAGAGACTTTGACCACAATCTTCAGCTGTGTGTGGGCAATCCCAGGAAGACAAAATCTGCA
Celera SNP ID:            hCV29358353
SNP Position Transcript:  494
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1337, 165, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:11186):
CTTGTGCTCCAGAGCTGAAGCTGGGGAGATCATCGGGGGCACAGAATGCAAGCCACATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAAC
S
GTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTCATTGTGCAGGAAGGTCTATAACAGTCACCCTTGGAGCCCA
Celera SNP ID:            hCV11431468
SNP Position Transcript:  136
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): 32 white Americans; 2 CEPH individuals(C,3|G,64)      total(G,64|C,3) ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1337, 46, (R,CGT)   (G,GGT)      



Context             (SEQ ID NO:11187):
TCCTGGATCCTGAGCCAGCCTGAAAGGGAAGCTGGAACTGGACCTGAGCAGCAAAGTGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAA
Y
CCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAACCTCAGTGAAGACACAG
Celera SNP ID:            hCV11714593
SNP Position Transcript:  845
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(T,1|C,12)      total(C,12|T,1) ;40 Africans; 32 white Americans; 2 CEPH individuals(T,29|C,118)      total(C,118|T,29);HYP3(T,30|C,118)   total(C,118|T,30)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1337, None   



Gene Number:                 251
Celera Gene:                 hCG40183 - 83000099172042
Celera Transcript:           hCT1956130 - 83000099172043
Public Transcript Accession: NM_004131
Celera Protein:              hCP1764631 - 197000069452861
Public Protein Accession:    NP_004122
Gene Symbol:                 GZMB
Protein Name:                granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1);CCPI;CGL-1;CGL1;CSP-B;CSPB;CTLA1;CTSGL1;HLP;SECT
Celera Genomic Axis:         GA_x5YUV32VVQK(28140011..28143322)
Chromosome:                  Chr14
OMIM number:                 123910
OMIM Information:            GRANZYME B;GZMB


Transcript Sequence (SEQ ID NO:641):
ATGAAGTCACTGAGCCTGCTCCACCTCTTTCCTCTCCCAAGAGCTAAAAGAGAGYAAGGRGGAAACAACAGCAGCTCCAACCAGGGCAGCCTTCCTGAGA
AGATGCAACCAATCCTGCTTCTGCTGGCCTTCCTCCTGCTGCCCAGGGCAGATGCAGGGGAGATCATCGGGGGACATGAGGCCAAGCCCCACTCCCGCCC
CTACATGGCTTATCTTATGATCTGGGATCAGAAGTCTCTGAAGAGGTGCGGTGGCTTCCTGATACRAGACGACTTCGTGCTGACAGCTGCTCACTGTTGG
GGAAGCTCCATAAATGTCACCTTGGGGGCCCACAATATCAARGAACAGGAGCCGACCCAGCAGTTTATCCCTGTGAAAAGASCCATCCCCCATCCAGCCT
ATAATCCTAAGAACTTCTCCAAYGACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGCGGACCAGAGCTGTGCAGCCCCTCAGGCTACCTAGCAACAA
GGCCCAGGTGAAGCCAGGGCAGACATGCAGTGTGGCCGGCTGGGGGCAGACGGCCCCCCTGGGAAAACACTCACACACACTACAAGAGGTGAAGATGACA
GTGCAGGAAGATCGAAAGTGYGAATCTGACTTACGCCATTATTACGACAGTACCATTGAGTTGTGCGTGGGGGACCCAGAGATTAAAAAGACTTCCTTTA
AGGGGGACTCTGGAGGCCCTCTTGTGTGTAACAAGGTGGCCCAGGGCATTGTCTCCTATGGACGAAACAATGGCATGCCTCCACGAGCCTGCACCAAAGT
CTCAAGCTTTGTACACTGGATAAAGAAAACCATGAAACGCYACTAACTACAGGAAGCAAACTAAGCCCCCGCTGTRATGAAACACCTTCTCTGGAGCCAA
GTCCAGATTTACACTGGGAGAGGTGCCAGCAACTGAATAAATACCTCTTAGCTGAGTGGAAAAG

Protein Sequence    (SEQ ID NO:1338):
MKSLSLLHLFPLPRAKREQGGNNSSSNQGSLPEKMQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVLTAAHCW
GSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTLQEVKMT
VQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVSYGRNNGMPPRACTKVSSFVHWIKKTMKRY


SNP Information

Context             (SEQ ID NO:11188):
AGACATGCAGTGTGGCCGGCTGGGGGCAGACGGCCCCCCTGGGAAAACACTCACACACACTACAAGAGGTGAAGATGACAGTGCAGGAAGATCGAAAGTG
Y
GAATCTGACTTACGCCATTATTACGACAGTACCATTGAGTTGTGCGTGGGGGACCCAGAGATTAAAAAGACTTCCTTTAAGGGGGACTCTGGAGGCCCTC
Celera SNP ID:            hCV25922441
SNP Position Transcript:  621
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,10)   total(C,43|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1338, 207, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11189):
ATGAAGTCACTGAGCCTGCTCCACCTCTTTCCTCTCCCAAGAGCTAAAAGAGAG
Y
AAGGAGGAAACAACAGCAGCTCCAACCAGGGCAGCCTTCCTGAGAAGATGCAACCAATCCTGCTTCTGCTGGCCTTCCTCCTGCTGCCCAGGGCAGATGC
Celera SNP ID:            hCV2965136
SNP Position Transcript:  55
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,7)   caucasian(C,33|T,5)   total(C,58|T,12)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 19, (Q,CAA)   (X,TAA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(T,-|C,-)   
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 19, (Q,CAA)   (X,TAA)      



Context             (SEQ ID NO:11190):
ATGAAGTCACTGAGCCTGCTCCACCTCTTTCCTCTCCCAAGAGCTAAAAGAGAGCAAGG
R
GGAAACAACAGCAGCTCCAACCAGGGCAGCCTTCCTGAGAAGATGCAACCAATCCTGCTTCTGCTGGCCTTCCTCCTGCTGCCCAGGGCAGATGCAGGGG
Celera SNP ID:            hCV2965137
SNP Position Transcript:  60
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,3)   caucasian(A,32|G,4)   total(A,67|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1338, 20, (G,GGA)   (G,GGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1338, 20, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:11191):
ATCGGGGGACATGAGGCCAAGCCCCACTCCCGCCCCTACATGGCTTATCTTATGATCTGGGATCAGAAGTCTCTGAAGAGGTGCGGTGGCTTCCTGATAC
R
AGACGACTTCGTGCTGACAGCTGCTCACTGTTGGGGAAGCTCCATAAATGTCACCTTGGGGGCCCACAATATCAAAGAACAGGAGCCGACCCAGCAGTTT
Celera SNP ID:            hCV2815152
SNP Position Transcript:  266
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|A,2)   total(G,2|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 89, (Q,CAA)   (R,CGA)      



Context             (SEQ ID NO:11192):
TGGGGGCCCACAATATCAAAGAACAGGAGCCGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTCTCCAA
Y
GACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGCGGACCAGAGCTGTGCAGCCCCTCAGGCTACCTAGCAACAAGGCCCAGGTGAAGCCAGGGCAGA
Celera SNP ID:            hCV8923487
SNP Position Transcript:  423
SNP Source:               Applera
Population(Allele,Count): african american(C,25|T,9)   caucasian(C,33|T,5)   total(C,58|T,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1338, 141, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11193):
TGCCTCCACGAGCCTGCACCAAAGTCTCAAGCTTTGTACACTGGATAAAGAAAACCATGAAACGCTACTAACTACAGGAAGCAAACTAAGCCCCCGCTGT
R
ATGAAACACCTTCTCTGGAGCCAAGTCCAGATTTACACTGGGAGAGGTGCCAGCAACTGAATAAATACCTCTTAGCTGAGTGGAAAAG
Celera SNP ID:            hCV15954161
SNP Position Transcript:  876
SNP Source:               Applera
Population(Allele,Count): african american(A,27|G,11)   caucasian(A,34|G,6)   total(A,61|G,17)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1338, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,297|A,1194)   total(G,297|A,1194) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1338, None   



Context             (SEQ ID NO:11194):
AGAGGTGCGGTGGCTTCCTGATACGAGACGACTTCGTGCTGACAGCTGCTCACTGTTGGGGAAGCTCCATAAATGTCACCTTGGGGGCCCACAATATCAA
R
GAACAGGAGCCGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTCTCCAACGACATCATGCTACTGCAGC
Celera SNP ID:            hCV25623144
SNP Position Transcript:  342
SNP Source:               Applera
Population(Allele,Count): african american(A,18|G,2)   caucasian(A,32|G,4)   total(A,50|G,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1338, 114, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:11195):
CCAGGGCATTGTCTCCTATGGACGAAACAATGGCATGCCTCCACGAGCCTGCACCAAAGTCTCAAGCTTTGTACACTGGATAAAGAAAACCATGAAACGC
Y
ACTAACTACAGGAAGCAAACTAAGCCCCCGCTGTAATGAAACACCTTCTCTGGAGCCAAGTCCAGATTTACACTGGGAGAGGTGCCAGCAACTGAATAAA
Celera SNP ID:            hCV15954171
SNP Position Transcript:  841
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,26)   caucasian(C,6|T,34)   total(C,18|T,60)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 281, (H,CAC)   (Y,TAC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 281, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:11196):
GACAGCTGCTCACTGTTGGGGAAGCTCCATAAATGTCACCTTGGGGGCCCACAATATCAAAGAACAGGAGCCGACCCAGCAGTTTATCCCTGTGAAAAGA
S
CCATCCCCCATCCAGCCTATAATCCTAAGAACTTCTCCAACGACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGCGGACCAGAGCTGTGCAGCCCCT
Celera SNP ID:            hCV25472720
SNP Position Transcript:  382
SNP Source:               Applera
Population(Allele,Count): african american(C,25|G,9)   caucasian(C,33|G,5)   total(C,58|G,14)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1338, 128, (P,CCC)   (A,GCC)   



Gene Number:                 252
Celera Gene:                 hCG40244 - 119000107807744
Celera Transcript:           hCT2279812 - 119000107807784
Public Transcript Accession: NM_000849
Celera Protein:              hCP1882068 - 197000069425332
Public Protein Accession:    NP_000840
Gene Symbol:                 GSTM3
Protein Name:                glutathione S-transferase M3 (brain);GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704
Celera Genomic Axis:         GA_x5YUV32VTKB(1241387..1248466)
Chromosome:                  Chr1
OMIM number:                 138390
OMIM Information:            GLUTATHIONE S-TRANSFERASE, MU-3;GSTM3


Transcript Sequence (SEQ ID NO:642):
TCAAGGAATAGGCAGACATTTCAGCAAGGCTGCTGAGGAAGGATAGGCTGTGGAAATTAGGATGCAGCACTCCTGCCCGGGTCCCGCCTCGGGGTCGCCA
GGCCCTGAACCCCAACGCCGGCATTAGTCGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCG
CCCGCGCGTGGGCCCCGCCCCCTTATGTMGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCSTGTCGTGC
GAGTCGTCTMTGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGT
ACACGTGCGGGGAAGCTCCTGACTATGATCGAAGCCAATGGCTGGATGTGAAATTCAAGCTAGACCTGGACTTTCCTAATCTGCCCTACCTCCTGGATGG
GAAGAACAAGATCACCCAGAGCAATGCCATCTTGCGCTACATCGCTCGCAAGCACAACATGTGTGGTGAGACTGAAGAAGAAAAGATTCGAGTGGACATC
ATAGAGAACCAAGTAATGGATTTCCGCACACAACTGATAAGGCTCTGTTACAGCTCTGACCACGAAAAACTGAAGCCTCAGTACTTGGAAGAGCTACCTG
GACAACTGAAACAATTCTCCATGTTTCTGGGGAAATTCTCATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCA
GAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCRAACCTGAAGGCTTTCATGTGYCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAG
TCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTRTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTKT
TTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTMTGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGG
CTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATACTGGCATTTCCCTACTCCCCAACTGAGTTCAAGGGCTGTAG
GTTCATGCCCAAGCCCTGAGAGTGGGTACTAGAAAAAACGAGATTGCACAGTTGGAGAGAGCAGGTGTGTTAAATGGGACTGGAGTCCCTGTGAAGACTG
GGTGAGGATAACACAAGTAAAACTGTGGTACTGATGGACTTAACCGGAGTTCGGAAACCGTCCTGTGTACACATGGGAGTTTAGTGTGATAAAGGCAGTA
TTTCAGACTGGTGGGCTAGCCAATAGAGTTGGGACAATTGCTTACTCATTAAAAATAATAGAGCCCCACTTGACACTATTCACTAAAATTAATCTGGAAT
TTAAGGCCCAACATTAAACACAAAGCTGTTGAAATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAA
GAAAAAACCATAGGCTGCTCTGCCTGTGGAGTARCCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTRCCAATTGAATA
GGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCTATAAATCATTA
AGACAACTGAGTTTTTAAAAATGGACAAAATCCATGAACAATTTATAAAATAGAAATATAGCCAAAAATGTCTAAAAGATGTTTATGATGTAAGGAATTA
TCAATTACAACAGTGAGAAACCATATTTCCTTCTATCCGATGAGTAAAAAGTTTCTAAAGTGTTGGCAAGGCTTAGGAAAGTGATATGCATTTCCTGCTG
GTCAAGTTGTAAATTAGTATAGCTACTTTGGAGGACAATTGTAAAATTTAAATCATATCCTATGACCCAGCAATTCCATGCTATAAAAACTCATCCATGG
CCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATG
AAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA
CCTGGGAGTGGGATAAAGGCCCAGACTCCATGGTGGAAGTTAAAGGGCATTTCCAAGTTAAGGCTAAGACTTGCTTTTCTAACTAAGAGAATGTGCTCAT
GCATTGCTTGTGTAGTAGAAACTAGTTTTTAGAAAAGAAAGCAAACTTAAGAAACACTGACTCCTGTGGAGATGACTTGGCACCACTCTCCTTTCACAGA
GCAGAGTCTGAATAGTCTTCAGAGATAGGCCTGTGGGCCAGATTGCCATCCCCTATGGACCAGAAGCCAAGGATCTCTCTAGTGATGGTCAGAGGGCCCA
AATGGCAGGGATACCCAGTGATGTCAGGAGGAATAGTRCAGACAGAAGGTGCTAAGCAGACAATTCAACTGCCATGTTTTGCCACCCCCTGTGAGCAGGG
ATTAGGTGTTCAGGCCAGTATCTTGGGCATGGGGGAGCCTTTGGCCAGAAGAGGTATAAAGCTCAGAAGTTTTTCAGTCTGATAACTATTGATATAATTT
CCATAGTGTGAGGGAGCGGTATGCTCTACCCTTGTGTATTTAAGGCAGGACAGAGAAATTGAGGATGCCCCTGGGGCTAGATCGATGATATGACCAGAAA
TCAAAAAGGGAATGCATTATTTATTGCTGTGTAACACTGTTAAGAGAGGAGGTAGTTAAGGGATGGATAGGCACATAGAGAGGGAAGGTCTCAGGAGAAG
GGATAGAAAGGAACTATGTTCACAAGAACAACGGCAAGACAGTGCCTATACTGCCTCTACAGTTAATAGGAAAAACGGAAGAAGTTACCCTTAAGCTAGG
ATGTTGCTCAGAAGTGACCATCCCAACTTTGGTGCGGGCACAATAAATCAGCCTAAATGTCCCTAATTTAACCCAGCTCRTTATAATGTCATTAAACATG
ACATTAGCATTGTGGTTTTAGCACCCCCATGGGTTTTGCTTAGGCACTCATGGGTAATAACCAAGATGGAGTCCCTTTGGCAAAACTTAGGCATGCACAG
CTGTAGTACCCCAAGAAGAAAATGTTACTTCTCTCATCTGGGCAAAACCCACAGAAGACTTCCCAGCTTCTGCCACATAAAAGACACAGAACACAGACGC
CTTACTGGCAACCTGCTTTCAAGACCCCTGTCTTTGCTGAGAGCTTTCCTTTTTCCCAATAAATTCTACTCTGCCCTAC

Protein Sequence    (SEQ ID NO:1339):
MSCESSMVLGYWDIRGLAHAIRLLLEFTDTSYEEKRYTCGEAPDYDRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIR
VDIIENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFLTYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAA
YLQSDQFCKMPINNKMAQWGNKPVC


SNP Information

Context             (SEQ ID NO:11197):
AGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTT
K
TTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTATGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAG
Celera SNP ID:            hCV8847900
SNP Position Transcript:  999
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11198):
CATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCC
R
AACCTGAAGGCTTTCATGTGCCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGG
Celera SNP ID:            hCV26628687
SNP Position Transcript:  840
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1339, 183, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:11199):
AAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTAACCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTT
R
CCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCT
Celera SNP ID:            hCV8847901
SNP Position Transcript:  1689
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11200):
AGAAGTTACCCTTAAGCTAGGATGTTGCTCAGAAGTGACCATCCCAACTTTGGTGCGGGCACAATAAATCAGCCTAAATGTCCCTAATTTAACCCAGCTC
R
TTATAATGTCATTAAACATGACATTAGCATTGTGGTTTTAGCACCCCCATGGGTTTTGCTTAGGCACTCATGGGTAATAACCAAGATGGAGTCCCTTTGG
Celera SNP ID:            hCV27468536
SNP Position Transcript:  3180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11201):
GTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACC
S
TGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGA
Celera SNP ID:            hCV27840394
SNP Position Transcript:  292
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1339, None



Context             (SEQ ID NO:11202):
CGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGT
M
GGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGA
Celera SNP ID:            hCV3184522
SNP Position Transcript:  229
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,5)   caucasian(A,12|C,18)   total(A,41|C,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1339, None

SNP Source:               Applera
Population(Allele,Count): caucasian(A,10|C,2)   total(A,10|C,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1339, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|C,7)      total(A,5|C,7) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11203):
TGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTT
M
TGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATAC
Celera SNP ID:            hCV25474113
SNP Position Transcript:  1060
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,5)   caucasian(A,34|C,4)   total(A,53|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11204):
GGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCT
M
TGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGG
Celera SNP ID:            hCV27830710
SNP Position Transcript:  310
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,18)   total(A,53|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1339, 7, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:11205):
CCAGATTGCCATCCCCTATGGACCAGAAGCCAAGGATCTCTCTAGTGATGGTCAGAGGGCCCAAATGGCAGGGATACCCAGTGATGTCAGGAGGAATAGT
R
CAGACAGAAGGTGCTAAGCAGACAATTCAACTGCCATGTTTTGCCACCCCCTGTGAGCAGGGATTAGGTGTTCAGGCCAGTATCTTGGGCATGGGGGAGC
Celera SNP ID:            hCV3184516
SNP Position Transcript:  2638
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11206):
TCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCAAACCTGAAGGCTTTCATGTG
Y
CGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTG
Celera SNP ID:            hCV25922626
SNP Position Transcript:  861
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,6)   total(C,35|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1339, 190, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11207):
ATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTA
R
CCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTACCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCA
Celera SNP ID:            hCV3184517
SNP Position Transcript:  1634
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,7|G,8)      total(G,8|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1339, None   



Context             (SEQ ID NO:11208):
CCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCT
R
TATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTAT
Celera SNP ID:            hCV3184518
SNP Position Transcript:  961
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,22)   caucasian(A,11|G,27)   total(A,17|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1339, 224, (I,ATA)   (V,GTA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(A,200|G,455)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(A,132|G,341)      total(G,796|A,332);no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1339, 224, (I,ATA)   (V,GTA)      



Gene Number:                 252
Celera Gene:                 hCG40244 - 119000107807744
Celera Transcript:           hCT2279809 - 119000107807745
Public Transcript Accession: NM_000849
Celera Protein:              hCP1882064 - 197000069425328
Public Protein Accession:    NP_000840
Gene Symbol:                 GSTM3
Protein Name:                glutathione S-transferase M3 (brain);GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704
Celera Genomic Axis:         GA_x5YUV32VTKB(1243178..1247958)
Chromosome:                  Chr1
OMIM number:                 138390
OMIM Information:            GLUTATHIONE S-TRANSFERASE, MU-3;GSTM3


Transcript Sequence (SEQ ID NO:643):
CACTCCTGCCCGGGTCCCGCCTCGGGGTCGCCAGGCCCTGAACCCCAACGCCGGCATTAGTCGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGG
GACGGAGAACGGGGCGGAGGCGGAGTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGTMGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCC
TCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCTMTGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGG
AGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGGGGAAGCTCCTGACTATGATCGAAGCCAATGGCTGGATGTGAAATTCAAGCTAGACCT
GGACTTTCCTAATCTGCCCTACCTCCTGGATGGGAAGAACAAGATCACCCAGAGCAATGCCATCTTGCGCTACATCGCTCGCAAGCACAACATGTGTGGT
GAGACTGAAGAAGAAAAGATTCGAGTGGACATCATAGAGAACCAAGTAATGGATTTCCGCACACAACTGATAAGGCTCTGTTACAGCTCTGACCACGAAA
AACTGAAGCCTCAGTACTTGGAAGAGCTACCTGGACAACTGAAACAATTCTCCATGTTTCTGGGGAAATTCTCATGGTTTGCCGGGGAAAAGCTCACCTT
TGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCRAACCTGAAGGCTTTCATGTGYCGTTTT
GAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTRTATGCT
GAGCAGGAGGCAGACTTGCAGAGCTTGTTTTKTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTMTGTTACT
GGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATACTGGCATT
TCCCTACTCCCCAACTGAGTTCAAGGGCTGTAGGTTCATGCCCAAGCCCTGAGAGTGGGTACTAGAAAAAACGAGATTGCACAGTTGGAGAGAGCAGGTG
TGTTAAATGGGACTGGAGTCCCTGTGAAGACTGGGTGAGGATAACACAAGTAAAACTGTGGTACTGATGGACTTAACCGGAGTTCGGAAACCGTCCTGTG
TACACATGGGAGTTTAGTGTGATAAAGGCAGTATTTCAGACTGGTGGGCTAGCCAATAGAGTTGGGACAATTGCTTACTCATTAAAAATAATAGAGCCCC
ACTTGACACTATTCACTAAAATTAATCTGGAATTTAAGGCCCAACATTAAACACAAAGCTGTTGAAATATTGATGAAAATGTAAGAATTTTTGTGACCAC
GGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTARCCATTCTTTATTCTTTTACTTTTTAAAATAATA
ACAATCACAAAGGAAAGATTTRCCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAG
TATAAAGATTATATAAAGACCTATAAATCATTAAGACAACTGAGTTTTTAAAAATGGACAAAATCCATGAACAATTTATAAAATAGAAATATAGCCAAAA
ATGTCTAAAAGATGTTTATGATGTAAGGAATTATCAATTACAACAGTGAGAAACCATATTTCCTTCTATCCGATGAGTAAAAAGTTTCTAAAGTGTTGGC
AAGGCTTAGGAAAGTGATATGCATTTCCTGCTGGTCAAGTTGTAAATTAGTATAGCTACTTTGGAGGACAATTGTAAAATTTAAATCATATCCTATGACC
CAGCAATTCCATGCTATAAAAACTCATCCATGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGT
CAAGAGATCGAGACCATCCTGGCCAACATGATGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTATAGTCCCAGCT
ACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAG

Protein Sequence    (SEQ ID NO:1340):
MSCESSMVLGYWDIRGLAHAIRLLLEFTDTSYEEKRYTCGEAPDYDRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIR
VDIIENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFLTYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAA
YLQSDQFCKMPINNKMAQWGNKPVC


SNP Information

Context             (SEQ ID NO:11209):
AGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTT
K
TTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTATGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAG
Celera SNP ID:            hCV8847900
SNP Position Transcript:  932
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1340, None   



Context             (SEQ ID NO:11210):
CATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCC
R
AACCTGAAGGCTTTCATGTGCCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGG
Celera SNP ID:            hCV26628687
SNP Position Transcript:  773
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1340, 183, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:11211):
AAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTAACCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTT
R
CCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCT
Celera SNP ID:            hCV8847901
SNP Position Transcript:  1622
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1340, None   



Context             (SEQ ID NO:11212):
CGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGT
M
GGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGA
Celera SNP ID:            hCV3184522
SNP Position Transcript:  162
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,5)   caucasian(A,12|C,18)   total(A,41|C,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1340, None

SNP Source:               Applera
Population(Allele,Count): caucasian(A,10|C,2)   total(A,10|C,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1340, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|C,7)      total(A,5|C,7) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1340, None   



Context             (SEQ ID NO:11213):
TGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTT
M
TGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATAC
Celera SNP ID:            hCV25474113
SNP Position Transcript:  993
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,5)   caucasian(A,34|C,4)   total(A,53|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1340, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1340, None   



Context             (SEQ ID NO:11214):
GGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCT
M
TGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGG
Celera SNP ID:            hCV27830710
SNP Position Transcript:  243
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,18)   total(A,53|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1340, 7, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:11215):
TCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCAAACCTGAAGGCTTTCATGTG
Y
CGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTG
Celera SNP ID:            hCV25922626
SNP Position Transcript:  794
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,6)   total(C,35|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1340, 190, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11216):
ATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTA
R
CCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTACCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCA
Celera SNP ID:            hCV3184517
SNP Position Transcript:  1567
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,7|G,8)      total(G,8|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1340, None   



Context             (SEQ ID NO:11217):
CCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCT
R
TATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTAT
Celera SNP ID:            hCV3184518
SNP Position Transcript:  894
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,22)   caucasian(A,11|G,27)   total(A,17|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1340, 224, (I,ATA)   (V,GTA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(A,200|G,455)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(A,132|G,341)      total(G,796|A,332);no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1340, 224, (I,ATA)   (V,GTA)      



Gene Number:                 252
Celera Gene:                 hCG40244 - 119000107807744
Celera Transcript:           hCT29401 - 119000107807770
Public Transcript Accession: NM_000849
Celera Protein:              hCP50026 - 197000069425331
Public Protein Accession:    NP_000840
Gene Symbol:                 GSTM3
Protein Name:                glutathione S-transferase M3 (brain);GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704
Celera Genomic Axis:         GA_x5YUV32VTKB(1241387..1248466)
Chromosome:                  Chr1
OMIM number:                 138390
OMIM Information:            GLUTATHIONE S-TRANSFERASE, MU-3;GSTM3


Transcript Sequence (SEQ ID NO:644):
TCAAGGAATAGGCAGACATTTCAGCAAGGCTGCTGAGGAAGGATAGGCTGTGGAAATTAGGATGCAGGTAGCACTCCTGCCCGGGTCCCGCCTCGGGGTC
GCCAGGCCCTGAACCCCAACGCCGGCATTAGTCGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAG
GGCGCCCGCGCGTGGGCCCCGCCCCCTTATGTMGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCSTGTC
GTGCGAGTCGTCTMTGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAA
CGGTACACGTGCGGGGAAGCTCCTGACTATGATCGAAGCCAATGGCTGGATGTGAAATTCAAGCTAGACCTGGACTTTCCTAATCTGCCCTACCTCCTGG
ATGGGAAGAACAAGATCACCCAGAGCAATGCCATCTTGCGCTACATCGCTCGCAAGCACAACATGTGTGGTGAGACTGAAGAAGAAAAGATTCGAGTGGA
CATCATAGAGAACCAAGTAATGGATTTCCGCACACAACTGATAAGGCTCTGTTACAGCTCTGACCACGAAAAACTGAAGCCTCAGTACTTGGAAGAGCTA
CCTGGACAACTGAAACAATTCTCCATGTTTCTGGGGAAATTCTCATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGG
ATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCRAACCTGAAGGCTTTCATGTGYCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTT
ACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTRTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTT
TTKTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTMTGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATA
AAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATACTGGCATTTCCCTACTCCCCAACTGAGTTCAAGGGCT
GTAGGTTCATGCCCAAGCCCTGAGAGTGGGTACTAGAAAAAACGAGATTGCACAGTTGGAGAGAGCAGGTGTGTTAAATGGGACTGGAGTCCCTGTGAAG
ACTGGGTGAGGATAACACAAGTAAAACTGTGGTACTGATGGACTTAACCGGAGTTCGGAAACCGTCCTGTGTACACATGGGAGTTTAGTGTGATAAAGGC
AGTATTTCAGACTGGTGGGCTAGCCAATAGAGTTGGGACAATTGCTTACTCATTAAAAATAATAGAGCCCCACTTGACACTATTCACTAAAATTAATCTG
GAATTTAAGGCCCAACATTAAACACAAAGCTGTTGAAATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTA
AAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTARCCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTRCCAATTG
AATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCTATAAATC
ATTAAGACAACTGAGTTTTTAAAAATGGACAAAATCCATGAACAATTTATAAAATAGAAATATAGCCAAAAATGTCTAAAAGATGTTTATGATGTAAGGA
ATTATCAATTACAACAGTGAGAAACCATATTTCCTTCTATCCGATGAGTAAAAAGTTTCTAAAGTGTTGGCAAGGCTTAGGAAAGTGATATGCATTTCCT
GCTGGTCAAGTTGTAAATTAGTATAGCTACTTTGGAGGACAATTGTAAAATTTAAATCATATCCTATGACCCAGCAATTCCATGCTATAAAAACTCATCC
ATGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT
GATGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCT
TGAACCTGGGAGTGGGATAAAGGCCCAGACTCCATGGTGGAAGTTAAAGGGCATTTCCAAGTTAAGGCTAAGACTTGCTTTTCTAACTAAGAGAATGTGC
TCATGCATTGCTTGTGTAGTAGAAACTAGTTTTTAGAAAAGAAAGCAAACTTAAGAAACACTGACTCCTGTGGAGATGACTTGGCACCACTCTCCTTTCA
CAGAGCAGAGTCTGAATAGTCTTCAGAGATAGGCCTGTGGGCCAGATTGCCATCCCCTATGGACCAGAAGCCAAGGATCTCTCTAGTGATGGTCAGAGGG
CCCAAATGGCAGGGATACCCAGTGATGTCAGGAGGAATAGTRCAGACAGAAGGTGCTAAGCAGACAATTCAACTGCCATGTTTTGCCACCCCCTGTGAGC
AGGGATTAGGTGTTCAGGCCAGTATCTTGGGCATGGGGGAGCCTTTGGCCAGAAGAGGTATAAAGCTCAGAAGTTTTTCAGTCTGATAACTATTGATATA
ATTTCCATAGTGTGAGGGAGCGGTATGCTCTACCCTTGTGTATTTAAGGCAGGACAGAGAAATTGAGGATGCCCCTGGGGCTAGATCGATGATATGACCA
GAAATCAAAAAGGGAATGCATTATTTATTGCTGTGTAACACTGTTAAGAGAGGAGGTAGTTAAGGGATGGATAGGCACATAGAGAGGGAAGGTCTCAGGA
GAAGGGATAGAAAGGAACTATGTTCACAAGAACAACGGCAAGACAGTGCCTATACTGCCTCTACAGTTAATAGGAAAAACGGAAGAAGTTACCCTTAAGC
TAGGATGTTGCTCAGAAGTGACCATCCCAACTTTGGTGCGGGCACAATAAATCAGCCTAAATGTCCCTAATTTAACCCAGCTCRTTATAATGTCATTAAA
CATGACATTAGCATTGTGGTTTTAGCACCCCCATGGGTTTTGCTTAGGCACTCATGGGTAATAACCAAGATGGAGTCCCTTTGGCAAAACTTAGGCATGC
ACAGCTGTAGTACCCCAAGAAGAAAATGTTACTTCTCTCATCTGGGCAAAACCCACAGAAGACTTCCCAGCTTCTGCCACATAAAAGACACAGAACACAG
ACGCCTTACTGGCAACCTGCTTTCAAGACCCCTGTCTTTGCTGAGAGCTTTCCTTTTTCCCAATAAATTCTACTCTGCCCTAC

Protein Sequence    (SEQ ID NO:1341):
MSCESSMVLGYWDIRGLAHAIRLLLEFTDTSYEEKRYTCGEAPDYDRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIR
VDIIENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFLTYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAA
YLQSDQFCKMPINNKMAQWGNKPVC


SNP Information

Context             (SEQ ID NO:11218):
AGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTT
K
TTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTATGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAG
Celera SNP ID:            hCV8847900
SNP Position Transcript:  1003
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11219):
CATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCC
R
AACCTGAAGGCTTTCATGTGCCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGG
Celera SNP ID:            hCV26628687
SNP Position Transcript:  844
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1341, 183, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:11220):
AAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTAACCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTT
R
CCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCT
Celera SNP ID:            hCV8847901
SNP Position Transcript:  1693
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11221):
AGAAGTTACCCTTAAGCTAGGATGTTGCTCAGAAGTGACCATCCCAACTTTGGTGCGGGCACAATAAATCAGCCTAAATGTCCCTAATTTAACCCAGCTC
R
TTATAATGTCATTAAACATGACATTAGCATTGTGGTTTTAGCACCCCCATGGGTTTTGCTTAGGCACTCATGGGTAATAACCAAGATGGAGTCCCTTTGG
Celera SNP ID:            hCV27468536
SNP Position Transcript:  3184
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11222):
GTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACC
S
TGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGA
Celera SNP ID:            hCV27840394
SNP Position Transcript:  296
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1341, None



Context             (SEQ ID NO:11223):
CGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGT
M
GGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGA
Celera SNP ID:            hCV3184522
SNP Position Transcript:  233
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,5)   caucasian(A,12|C,18)   total(A,41|C,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1341, None

SNP Source:               Applera
Population(Allele,Count): caucasian(A,10|C,2)   total(A,10|C,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1341, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|C,7)      total(A,5|C,7) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11224):
TGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTT
M
TGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATAC
Celera SNP ID:            hCV25474113
SNP Position Transcript:  1064
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,5)   caucasian(A,34|C,4)   total(A,53|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11225):
GGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCT
M
TGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGG
Celera SNP ID:            hCV27830710
SNP Position Transcript:  314
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,18)   total(A,53|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1341, 7, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:11226):
CCAGATTGCCATCCCCTATGGACCAGAAGCCAAGGATCTCTCTAGTGATGGTCAGAGGGCCCAAATGGCAGGGATACCCAGTGATGTCAGGAGGAATAGT
R
CAGACAGAAGGTGCTAAGCAGACAATTCAACTGCCATGTTTTGCCACCCCCTGTGAGCAGGGATTAGGTGTTCAGGCCAGTATCTTGGGCATGGGGGAGC
Celera SNP ID:            hCV3184516
SNP Position Transcript:  2642
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,5|A,6)      total(G,5|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11227):
TCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCAAACCTGAAGGCTTTCATGTG
Y
CGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTG
Celera SNP ID:            hCV25922626
SNP Position Transcript:  865
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,6)   total(C,35|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1341, 190, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11228):
ATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTA
R
CCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTACCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCA
Celera SNP ID:            hCV3184517
SNP Position Transcript:  1638
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,7|G,8)      total(G,8|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1341, None   



Context             (SEQ ID NO:11229):
CCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCT
R
TATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTAT
Celera SNP ID:            hCV3184518
SNP Position Transcript:  965
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,22)   caucasian(A,11|G,27)   total(A,17|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1341, 224, (I,ATA)   (V,GTA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(A,200|G,455)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(A,132|G,341)      total(G,796|A,332);no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1341, 224, (I,ATA)   (V,GTA)      



Gene Number:                 252
Celera Gene:                 hCG40244 - 119000107807744
Celera Transcript:           hCT2279811 - 119000107807757
Public Transcript Accession: NM_000849
Celera Protein:              hCP1882065 - 197000069425329
Public Protein Accession:    NP_000840
Gene Symbol:                 GSTM3
Protein Name:                glutathione S-transferase M3 (brain);GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704
Celera Genomic Axis:         GA_x5YUV32VTKB(1243178..1248466)
Chromosome:                  Chr1
OMIM number:                 138390
OMIM Information:            GLUTATHIONE S-TRANSFERASE, MU-3;GSTM3


Transcript Sequence (SEQ ID NO:645):
TCAAGGAATAGGCAGACATTTCAGCAAGGCTGCTGAGGAAGGATAGGCTGTGGAAATTAGGATGCAGCACTCCTGCCCGGGTCCCGCCTCGGGGTCGCCA
GGCCCTGAACCCCAACGCCGGCATTAGTCGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCG
CCCGCGCGTGGGCCCCGCCCCCTTATGTMGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCSTGTCGTGC
GAGTCGTCTMTGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGT
ACACGTGCGGGGAAGCTCCTGACTATGATCGAAGCCAATGGCTGGATGTGAAATTCAAGCTAGACCTGGACTTTCCTAATCTGCCCTACCTCCTGGATGG
GAAGAACAAGATCACCCAGAGCAATGCCATCTTGCGCTACATCGCTCGCAAGCACAACATGTGTGGTGAGACTGAAGAAGAAAAGATTCGAGTGGACATC
ATAGAGAACCAAGTAATGGATTTCCGCACACAACTGATAAGGCTCTGTTACAGCTCTGACCACGAAAAACTGAAGCCTCAGTACTTGGAAGAGCTACCTG
GACAACTGAAACAATTCTCCATGTTTCTGGGGAAATTCTCATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCA
GAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCRAACCTGAAGGCTTTCATGTGYCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAG
TCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTRTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTKT
TTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTMTGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGG
CTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATACTGGCATTTCCCTACTCCCCAACTGAGTTCAAGGGCTGTAG
GTTCATGCCCAAGCCCTGAGAGTGGGTACTAGAAAAAACGAGATTGCACAGTTGGAGAGAGCAGGTGTGTTAAATGGGACTGGAGTCCCTGTGAAGACTG
GGTGAGGATAACACAAGTAAAACTGTGGTACTGATGGACTTAACCGGAGTTCGGAAACCGTCCTGTGTACACATGGGAGTTTAGTGTGATAAAGGCAGTA
TTTCAGACTGGTGGGCTAGCCAATAGAGTTGGGACAATTGCTTACTCATTAAAAATAATAGAGCCCCACTTGACACTATTCACTAAAATTAATCTGGAAT
TTAAGGCCCAACATTAAACACAAAGCTGTTGAAATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAA
GAAAAAACCATAGGCTGCTCTGCCTGTGGAGTARCCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTRCCAATTGAATA
GGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCTATAAATCATTA
AGACAACTGAGTTTTTAAAAATGGACAAAATCCATGAACAATTTATAAAATAGAAATATAGCCAAAAATGTCTAAAAGATGTTTATGATGTAAGGAATTA
TCAATTACAACAGTGAGAAACCATATTTCCTTCTATCCGATGAGTAAAAAGTTTCTAAAGTGTTGGCAAGGCTTAGGAAAGTGATATGCATTTCCTGCTG
GTCAAGTTGTAAATTAGTATAGCTACTTTGGAGGACAATTGTAAAATTTAAATCATATCCTATGACCCAGCAATTCCATGCTATAAAAACTCATCCATGG
CCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATG
AAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA
CCTGGGAG

Protein Sequence    (SEQ ID NO:1342):
MSCESSMVLGYWDIRGLAHAIRLLLEFTDTSYEEKRYTCGEAPDYDRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIR
VDIIENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFLTYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAA
YLQSDQFCKMPINNKMAQWGNKPVC


SNP Information

Context             (SEQ ID NO:11230):
AGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTT
K
TTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTATGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAG
Celera SNP ID:            hCV8847900
SNP Position Transcript:  999
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    ;no_pop(T,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1342, None   



Context             (SEQ ID NO:11231):
CATGGTTTGCCGGGGAAAAGCTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCC
R
AACCTGAAGGCTTTCATGTGCCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGG
Celera SNP ID:            hCV26628687
SNP Position Transcript:  840
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1342, 183, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:11232):
AAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTAACCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTT
R
CCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCT
Celera SNP ID:            hCV8847901
SNP Position Transcript:  1689
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1342, None   



Context             (SEQ ID NO:11233):
GTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACC
S
TGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGA
Celera SNP ID:            hCV27840394
SNP Position Transcript:  292
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,37)   caucasian(G,38)   total(C,1|G,75)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1342, None



Context             (SEQ ID NO:11234):
CGCGCCTGCGCACGGCCCTGTGGAGCCGCGGAGGCAAGGGACGGAGAACGGGGCGGAGGCGGAGTCAGGGCGCCCGCGCGTGGGCCCCGCCCCCTTATGT
M
GGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCTATGGTTCTCGGGTACTGGGA
Celera SNP ID:            hCV3184522
SNP Position Transcript:  229
SNP Source:               Applera
Population(Allele,Count): african american(A,29|C,5)   caucasian(A,12|C,18)   total(A,41|C,23)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1342, None

SNP Source:               Applera
Population(Allele,Count): caucasian(A,10|C,2)   total(A,10|C,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1342, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|C,7)      total(A,5|C,7) ;no_pop(C,-|A,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1342, None   



Context             (SEQ ID NO:11235):
TGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTT
M
TGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATAC
Celera SNP ID:            hCV25474113
SNP Position Transcript:  1060
SNP Source:               Applera
Population(Allele,Count): african american(A,19|C,5)   caucasian(A,34|C,4)   total(A,53|C,9)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1342, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1342, None   



Context             (SEQ ID NO:11236):
GGGCCCCGCCCCCTTATGTCGGGTATAAAGCCCCTCCCGCTCACAGTTTCCCTAGTCCTCGAAGGCTCGGAAGCCCGTCACCATGTCGTGCGAGTCGTCT
M
TGGTTCTCGGGTACTGGGATATTCGTGGGCTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGG
Celera SNP ID:            hCV27830710
SNP Position Transcript:  310
SNP Source:               Applera
Population(Allele,Count): african american(A,35|C,1)   caucasian(A,18)   total(A,53|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1342, 7, (M,ATG)   (L,CTG)   



Context             (SEQ ID NO:11237):
TCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCAAACCTGAAGGCTTTCATGTG
Y
CGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTG
Celera SNP ID:            hCV25922626
SNP Position Transcript:  861
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,6)   total(C,35|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1342, 190, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11238):
ATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAACCATAGGCTGCTCTGCCTGTGGAGTA
R
CCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTACCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCA
Celera SNP ID:            hCV3184517
SNP Position Transcript:  1634
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,7|G,8)      total(G,8|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1342, None   



Context             (SEQ ID NO:11239):
CCGTTTTGAGGCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCT
R
TATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTAT
Celera SNP ID:            hCV3184518
SNP Position Transcript:  961
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,22)   caucasian(A,11|G,27)   total(A,17|G,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1342, 224, (I,ATA)   (V,GTA)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,5|G,7)      total(G,7|A,5) ;Scottish male and female non-demented controls for non-familial Early Onset Alzheimers |isease study(A,200|G,455)   Scottish male and female non-familial Early Onset Alzheimers |isease patients(A,132|G,341)      total(G,796|A,332);no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1342, 224, (I,ATA)   (V,GTA)      



Gene Number:                 253
Celera Gene:                 hCG40302 - 104000116756608
Celera Transcript:           hCT2285700 - 104000116756679
Public Transcript Accession: NM_004638
Celera Protein:              hCP1854271 - 197000069367405
Public Protein Accession:    NP_004629
Gene Symbol:                 BAT2
Protein Name:                HLA-B associated transcript 2;D6S51;D6S51E;G2
Celera Genomic Axis:         GA_x5YUV32W6W6(4651023..4677472)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:646):
CCCGGATGGGCCGTTAGTCGGGGCTCAGCCGCGGAGTGAGCGAGGGAGACGGGAGGAGCCGAACCCGGCGCCATCCGCCGCCATCCTCCCCCGCCCCACC
GCCATCCCGTCCCGGGGAGCCCCTAGGCCCGGGTCCCGGATCCCCGCGCACCCGGCCAGGCTCTGGCACGTTTTGGGGGAGGTGCCTGCAGGACCCAACA
TACTCAATGAGCTTCCAGCGCAATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTAT
AAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGCSACCTCCAG
CCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGWCGGAACAGGATGGGCAAGCAAACAGGAGCAGTC
CGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCYGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCA
GCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAGTCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTGGAAGGGCATCAA
GCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCGGCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTC
TGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGGKCGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCAT
CATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCTACCGCGGAATGATGCCGCCTTTCATGTATCCCCCATATCTCC
CGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCC
ACCAATGCRCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGG
GCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGGWGCTGAGGGCCACAGGG
ATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTCCTAAGACGGCCTGGGC
AGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCCRGGAACTGGGGCCCCCCT
GGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAAGCAGTCGTCATCTGAGA
TTTCCCTGGCAGTGGAGCGGGCCCGGCGACGGCGAGAAGAAGAGGAGCGGCGCATGCAAGAAGAGCGCCGGGCAGCCTGTGCTGAGAAGCTCAAGCGACT
CGATGAAAAGTTTGGGGCACCTGACAAGCGGCTCAAAGCAGAGCCTGCTGCCCCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAA
GAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCTGTTGCAATCCTGTAT
TTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCK

Protein Sequence    (SEQ ID NO:1343):
MSDRSGPTAKGKDGKKYSSLNLFDTYKGKSLEIQKPAVAPRHGLQSLGKVAIARRMPPPANLPSLKAENKGNDPNVSLVPKDGTGWASKQEQSDPKSSDA
STAQPPESQPLPASQTPASNQPKRPPAAPENTPLVPSGVKSWAQASVTHGAHGDGGRASSLLSRFSREEFPTLQAAGDQDKAAKERESAEQSSGPGPSLR
PQNSTTWRDGGGRGPDELEGPDSKLHHGHDPRGGLQPSGPPQFPPYRGMMPPFMYPPYLPFPPPYGPQGPYRYPTPDGPSRFPRVAGPRGSGPPMRLVEP
VGRPSILKEDNLKEFDQLDQENDDGWAGAHEEVDYTEKLKFSDEEDGRDSDEEGAEGHRDSQSASGEERPPEADGKKGNSPNSEPPTPKTAWAETSRPPE
TEPGPPAPKPPLPPPHRGPAGNWGPPGDYPDRGGPPCKPPAPEDEDEAWRQRRKQSSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAP
DKRLKAEPAAPPAAPSTPAPPPAVPKELPAPPAPPPASASQSAGITGVSHCTWPCCNPVFFSRDRVSPCWPGWSRTPDLR


SNP Information

Context             (SEQ ID NO:11240):
AAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAG
W
CGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCCGGAATCGCAGCCACTGCCGGCTTCACAG
Celera SNP ID:            hCV29231527
SNP Position Transcript:  467
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1343, 82, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:11241):
GACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGC
Y
GGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTA
Celera SNP ID:            hCV15874455
SNP Position Transcript:  539
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,118|C,1385)   total(C,1385|T,118) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1343, 106, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11242):
AGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGG
W
GCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTC
Celera SNP ID:            hCV3273990
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,34|T,4)   total(A,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1343, 354, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1343, 354, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11243):
CCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGC
R
CTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCC
Celera SNP ID:            hCV3273991
SNP Position Transcript:  1109
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1343, 296, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11244):
TCCTAAGACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCC
R
GGAACTGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAA
Celera SNP ID:            hCV25623781
SNP Position Transcript:  1483
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1343, 421, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:11245):
AGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGG
K
CGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCT
Celera SNP ID:            hCV25623848
SNP Position Transcript:  858
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,25|T,1)   total(G,60|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1343, 212, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,27|T,1)   total(G,60|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1343, 212, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:11246):
GATACGTATAAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGC
S
ACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAG
Celera SNP ID:            hCV7514683
SNP Position Transcript:  392
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1343, 57, (P,CCA)   (R,CGA)      



Gene Number:                 253
Celera Gene:                 hCG40302 - 104000116756608
Celera Transcript:           hCT2285702 - 104000116756609
Public Transcript Accession: NM_004638
Celera Protein:              hCP1854269 - 197000069367403
Public Protein Accession:    NP_004629
Gene Symbol:                 BAT2
Protein Name:                HLA-B associated transcript 2;D6S51;D6S51E;G2
Celera Genomic Axis:         GA_x5YUV32W6W6(4651023..4668081)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:647):
CCCGGATGGGCCGTTAGTCGGGGCTCAGCCGCGGAGTGAGCGAGGGAGACGGGAGGAGCCGAACCCGGCGCCATCCGCCGCCATCCTCCCCCGCCCCACC
GCCATCCCGTCCCGGGGAGCCCCTAGGCCCGGGTCCCGGATCCCCGCGCACCCGGCCAGGCTCTGGCACGTTTTGGGGGAGGTGCCTGCAGGACCCAACA
TACTCAATGAGCTTCCAGCGCAATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTAT
AAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGCSACCTCCAG
CCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGWCGGAACAGGATGGGCAAGCAAACAGGAGCAGTC
CGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCYGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCA
GCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAGTCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTGGAAGGGCATCAA
GCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCGGCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTC
TGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGGKCGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCAT
CATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCTACCGCGGAATGATGCCGCCTTTCATGTATCCCCCATATCTCC
CGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCC
ACCAATGCRCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGG
GCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGGWGCTGAGGGCCACAGGG
ATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTCCTAAGACGGCCTGGGC
AGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGATCGTGGGGGTCCTCCCTGCAAGCC
CCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAAGCAGTCGTCATCTGAGATTTCCCTGGCAGTGGAGCGGGCCCGGCGACGGCGAGAA
GAAGAGGAGCGGCGCATGCAAGAAGAGCGCCGGGCAGCCTGTGCTGAGAAGCTCAAGCGACTCGATGAAAAGTTTGGGGCACCTGACAAGCGGCTCAAAG
CAGAGCCTGCTGCCCCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGC
CCCAACACCAGAGAMAGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGT
GGTGGCAGTACCAGTAGCACCAGCAGTGGCAGCTTCGAAGCCAGCCCAGTGGAACCACAACTGCCCTCAAAAGAGGGTCCTGAACCACCAGAAGAGGTTC
CTCCTCCTACCACACCCCCAGTTCCAAAGGTGGAACCCAAGGGTGATGGGATTGGTCCCACCCGCCAGCCCCCTAGTCAGGGCTTGGGCTACCCCAAATA
TCAGAAGTCGTTGCCTCCTCGTTTCCAGCGGCAGCAGCAGGAGCAGCTCCTGAAGCAGCAGCAGCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCC
CCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCCAMAGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAG
GTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATTCCTCCTTATGTGGACCCCCGGCTCCTCCAGGGTCGTCC
CCCTCTAGACTTCTACCCTCCTGGTGTGCATCCCTCTGGCCTAGTTCCCCGAGAGCGTTCAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCAT
GCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGTRGGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCAC
TTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCC
AGGCTTTCCTGAGAATGGRRCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAA
GTGGCCAAGATACAAACTCCACCACCCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAG
TCGGGAGTGGAGGCCAGGGCCCCCCMCCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCC
AGAGGAGCCAGGGGCCCCACCCCGCCGGGCTGGGCCTATAAAGAAACCTCCACCACCTACAAAAGTAGAAGAGCTGCCTCCCAAGCCCCTCGAACAGGGG
GATGAAACCCCCAAACCCCCAAAGCCAGACCCACTCAAGATAACCAAGGGGAAGCTAGGGGGCCCCAAGGAGACCCCACCCAATGGAAATCTTTCCCCTG
CCCCAAGGCTTCGGAGGGACTATTCGTATGAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCG
GGGGACCTATGGGGGACGAGGGCGGGGAGSCCGAAGCCGGGAATTCCGCAGTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGA
CCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGGYGCCGGCAGCGGGGCT
CAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCC
CCCACCACCAGGAGCCCCACCTTCACCAGCSCCAGCCCGCTTCACTGCCCGGGGTSGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGA
GGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTCTCTGGCTCCCAAGAAACCTCCCACAGGCCCTTTGCCACCAAGTA
AGGAGCCTTTGAAAGAGAAGTTGATCCCAGGGCCTCTGTCCCCTGTGGCGCGCGGAGGCAGCAATGGAGGTAGCAATGTGGGCATGGAAGATGGGGAGCG
ACCCCGAAGGAGGCGACATGGGAGGGCTCAGCAGCAGGATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAG
GGCAAGCCCTCCCTAACCCTTCCAGCCTCCRCTCCTGSACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGT
CTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAATGAGGAATGGGAGACTGCATCAGAGAGCAGTGACTTCACCAGTGAGCGCCGAGGGGACAAAGA
GGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCGYGGAGAT
CTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTG
GCARCAGTGGCAGCAGCAGTGGAGGAGSCRGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCG
AAGTCGTCCTCCAGAGGAGCGTCCCCCGGGGCTTCCCCTGCCTCCCCCACCTCCCAGCAGTTCTGCTGTCTTCCGCCTGGACCAAGTTATCCACAGCAAC
CCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGCNTCCCCAAG
CCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAAT
GGTGAGAGGGGTGGRTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGCRGCCTCCCAGAAAACCAGAGCTGCTACAG
GAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGCCCTCAGGCAGAGTCCAGAGATACAGGCACAGAGGCCC
TGACCCCTCACATCTGGAACCGTTTACATACTGCCACTAGCCGAAAGAGTTACCGGCCCAGCTCCATGGAGCCTTGGATGGAGCCCCTGAGTCCTTTTGA
GGATGTGGCTGGCACAGAAATGAGTCAGTCTGACAGTGGGGTGGACCTGAGTGGGGATTCTCAGGTGTCATCAGGTCCCTGCAGCCAGCGAAGTTCCCCT
GATGGAGGACTCAAGGGGGCAGCAGAGGGACCCCCCAAGAGGCCTGGAGGCTCCTCACCCCTGAATGCTGTTCCTTGTGAGGGTCCACCTGGCTCTGAAC
CTCCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACA
GCRTACAGACCGAGSCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGRCAAGGACTCAGACTTACGC
CTARTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGARGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTG
CTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGG
CAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCARTTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCAC
CCTTACAGATCACAGCCCCTATACCTACCCCCSGGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGGKTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCA
CAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCCTTCCTCTACTCTCCGGCTTTCTGCCCCAGTCCTTTGCC
TGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGGMTTTCTCCCTTCA
GGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCTY
CCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAG
GCCCTTCCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGA
TCATCAYGGACTCCCCCAACTGGAAGGTCCTYCTCTGGCCTCAATTCCCGTCTSAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCG
TCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGCYGCCACCTCGAGAAGGGCCCTCCCGACG
GGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGA
TTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTTSTGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGG
CTGTTTGTTAAAAAAGAGTAATAAAAGGATTTK

Protein Sequence    (SEQ ID NO:1344):
MMMVGQGPMKRLTTLKSSSSAMRKMGETLMRRELRATGIPNQLLVRNGPLKQMAKRATPPTANRPLLRRPGQKPLGLQRQSRDLLPQSLPYPHLTGDRGG
PPCKPPAPEDEDEAWRQRRKQSSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAPDKRLKAEPAAPPAAPSTPAPPPAVPKELPAPPAP
PPASAPTPEKEPEEPAQAPPAQSTPTPGVAAAPTLVSGGGSTSSTSSGSFEASPVEPQLPSKEGPEPPEEVPPPTTPPVPKVEPKGDGIGPTRQPPSQGL
GYPKYQKSLPPRFQRQQQEQLLKQQQQHQWQQHQQGSAPPTPVPPSPPQPVTLGAVPAPQAPPPPPKALYPGALGRPPPMPPMNFDPRWMMIPPYVDPRL
LQGRPPLDFYPPGVHPSGLVPRERSDSGGSSSEPFDRHAPAMLRERGTPPVDPKLAWVGDVFTATPAEPRPLTSPLRQAADEDDKGMRSETPPVPPPPPY
LASYPGFPENGAPGPPISRFPLEEPGPRPLPWPPGSDEVAKIQTPPPKKEPPKEETAQLTGPEAGRKPARGVGSGGQGPPPPRRESRTETRWGPRPGSSR
RGIPPEEPGAPPRRAGPIKKPPPPTKVEELPPKPLEQGDETPKPPKPDPLKITKGKLGGPKETPPNGNLSPAPRLRRDYSYERVGPTSCRGRGRGEYFAR
GRGFRGTYGGRGRGARSREFRSYREFRGDDGRGGGTGGPNHPPAPRGRTASETRSEGSEYEEIPKRRRQRGSETGSETHESDLAPSDKEAPTPKEGTLTQ
VPLAPPPPGAPPSPAPARFTARGGRVFTPRGVPSRRGRGGGRPPPQVCPGWSPPAKSLAPKKPPTGPLPPSKEPLKEKLIPGPLSPVARGGSNGGSNVGM
EDGERPRRRRHGRAQQQDKPPRFRRLKQERENAARGSEGKPSLTLPASAPGPEEALTTVTVAPAPRRAAAKSPDLSNQNSDQANEEWETASESSDFTSER
RGDKEAPPPVLLTPKAVGTPGGGGGGAVPGISAMSRGDLSQRAKDLSKRSFSSQRPGMERQNRRPGPGGKAGSSGSSSGGGGGGPGGRTGPGRGDKRSWP
SPKNRSRPPEERPPGLPLPPPPPSSSAVFRLDQVIHSNPAGIQQALAQLSSRQGSVTAPGGHPRHKPGPPQAPQGPSPRPPTRYEPQRVNSGLSSDPHFE
EPGPMVRGVGGTPRDSAGVSPFPPKRRERPPRKPELLQEESLPPPHSSGFLGSKPEGPGPQAESRDTGTEALTPHIWNRLHTATSRKSYRPSSMEPWMEP
LSPFEDVAGTEMSQSDSGVDLSGDSQVSSGPCSQRSSPDGGLKGAAEGPPKRPGGSSPLNAVPCEGPPGSEPPRRPPPAPHDGDRKELPREQPLPPGPIG
TERSQRTDRGTEPGPIRPSHRPGPPVQFGTSDKDSDLRLVVGDSLKAEKELTASVTEAIPVSRDWELLPSAAASAEPQSKNLDSGHCVPEPSSSGQRLYP
EVFYGSAGPSSSQISGGAMDSQLHPNSGGFRPGTPSLHPYRSQPLYLPPGPAPPSALLSGVALKGQFLDFSTMQATELGKLPAGGVLYPPPSFLYSPAFC
PSPLPDTSLLQVRQDLPSPSDFYSTPLQPGGQSGFLPSGAPAQQMLLPMVDSQLPVVNFGSLPPAPPPAPPPLSLLPVGPALQPPSLAVRPPPAPATRVL
PSPARPFPASLGRAELHPVELKPFQDYQKLSSNLGGPGSSRTPPTGRSFSGLNSRLKATPSTYSGVFRTQRVDLYQQASPPDALRWIPKPWERTGPPPRE
GPSRRAEEPGSRGDKEPGLPPPR


SNP Information

Context             (SEQ ID NO:11247):
CCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGG
M
TTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTC
Celera SNP ID:            hCV25623829
SNP Position Transcript:  6088
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(A,1|C,23)   total(A,1|C,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1634, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:11248):
GCAGCAGGATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCC
R
CTCCTGGACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCA
Celera SNP ID:            hCV25623791
SNP Position Transcript:  4031
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,22)   total(A,1|G,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 949, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:11249):
AGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGG
K
CGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCT
Celera SNP ID:            hCV25623848
SNP Position Transcript:  858
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,25|T,1)   total(G,60|T,2)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,27|T,1)   total(G,60|T,2)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None



Context             (SEQ ID NO:11250):
ACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAGGC
R
GTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGG
Celera SNP ID:            hCV25623792
SNP Position Transcript:  4430
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,1|G,37)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1082, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:11251):
AGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCA
R
CAGTGGCAGCAGCAGTGGAGGAGGCGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGT
Celera SNP ID:            hCV25623793
SNP Position Transcript:  4404
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1073, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:11252):
ATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGC
S
CCAGCCCGCTTCACTGCCCGGGGTGGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCC
Celera SNP ID:            hCV11917406
SNP Position Transcript:  3631
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 815, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:11253):
ACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCG
Y
GGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCA
Celera SNP ID:            hCV25623794
SNP Position Transcript:  4294
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,22)   total(C,41|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1036, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11254):
GATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCGCTCCTG
S
ACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAAT
Celera SNP ID:            hCV11917408
SNP Position Transcript:  4038
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,21)   caucasian(C,1|G,21)   total(C,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 951, (A,GCA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 951, (A,GCA)   (G,GGA)      



Context             (SEQ ID NO:11255):
AGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGG
R
GCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTC
Celera SNP ID:            hCV7514704
SNP Position Transcript:  2719
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 511, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:11256):
CCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCC
M
CCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCC
Celera SNP ID:            hCV25623796
SNP Position Transcript:  2926
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,1)   caucasian(A,33|C,1)   total(A,50|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 580, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:11257):
AGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGG
W
GCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTC
Celera SNP ID:            hCV3273990
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,34|T,4)   total(A,69|T,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 33, (E,GAG)   (V,GTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 33, (E,GAG)   (V,GTG)      



Context             (SEQ ID NO:11258):
GGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGA
R
CCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCC
Celera SNP ID:            hCV7514705
SNP Position Transcript:  2720
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 512, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11259):
CCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGC
R
CTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCC
Celera SNP ID:            hCV3273991
SNP Position Transcript:  1109
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None   



Context             (SEQ ID NO:11260):
CGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCA
R
TTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAG
Celera SNP ID:            hCV7514722
SNP Position Transcript:  5752
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,1)   caucasian(A,18|G,6)   total(A,29|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1522, (Q,CAA)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1522, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11261):
GGGGAGCCATGGACTCTCAATTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCC
S
GGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGGGTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGG
Celera SNP ID:            hCV7514723
SNP Position Transcript:  5833
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1549, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11262):
CCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGC
R
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
Celera SNP ID:            hCV3273977
SNP Position Transcript:  5403
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,18|G,22)   total(A,35|G,43)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1406, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,13|G,19)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1406, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2)Gaucasian(A,108|G,196)   Ghinese(A,27|G,31)   Japanese(A,8|G,12)   African(G,48|A,50)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1406, (H,CAT)   (R,CGT)      1406, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:11263):
GACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGGTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGC
R
GCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGCCCTCAGGCA
Celera SNP ID:            hCV25623799
SNP Position Transcript:  4872
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,11)   caucasian(G,26)   total(A,1|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1229, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11264):
TACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGC
Y
GCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGC
Celera SNP ID:            hCV7514724
SNP Position Transcript:  6573
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,37|T,3)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1796, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1796, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11265):
GCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTT
S
TGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTTA
Celera SNP ID:            hCV902448
SNP Position Transcript:  6743
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1344, None   



Context             (SEQ ID NO:11266):
CCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGA
M
AGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGT
Celera SNP ID:            hCV7514692
SNP Position Transcript:  1815
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,8)   caucasian(A,30|C,8)   total(A,52|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 210, (K,AAA)   (T,ACA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|C,9)   caucasian(A,20|C,6)   total(A,43|C,15)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 210, (K,AAA)   (T,ACA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 210, (T,ACA)   (K,AAA)      210, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:11267):
AAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAG
W
CGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCCGGAATCGCAGCCACTGCCGGCTTCACAG
Celera SNP ID:            hCV29231527
SNP Position Transcript:  467
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None   



Context             (SEQ ID NO:11268):
GCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCCA
M
AGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATTCC
Celera SNP ID:            hCV26778761
SNP Position Transcript:  2264
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 360, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:11269):
CCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCA
Y
GGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCT
Celera SNP ID:            hCV25623831
SNP Position Transcript:  6407
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,32|T,2)   total(C,62|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1741, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,32|T,2)   total(C,68|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1741, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:11270):
CGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCT
S
AAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGC
Celera SNP ID:            hCV25623832
SNP Position Transcript:  6454
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,28)   total(C,63|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1756, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1756, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,32)   total(C,61|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 1756, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11271):
AAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAG
S
CGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCG
Celera SNP ID:            hCV26778769
SNP Position Transcript:  4428
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1081, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11272):
AGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCT
Y
CCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAG
Celera SNP ID:            hCV2451889
SNP Position Transcript:  6200
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,26|T,14)   total(C,50|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1672, (P,CCC)   (S,TCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,3)      total(C,3|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1672, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:11273):
CAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGT
R
GGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTC
Celera SNP ID:            hCV25623787
SNP Position Transcript:  2560
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,6)   caucasian(A,24|G,6)   total(A,46|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 458, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1344, 458, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11274):
GAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAG
S
CCGAAGCCGGGAATTCCGCAGTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGC
Celera SNP ID:            hCV7514713
SNP Position Transcript:  3330
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 715, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11275):
AGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGG
Y
GCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCA
Celera SNP ID:            hCV7514714
SNP Position Transcript:  3485
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 767, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:11276):
TCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCCCCAGCCCGCTTCACTGCCCGGGGT
S
GGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTC
Celera SNP ID:            hCV7514715
SNP Position Transcript:  3656
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 824, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:11277):
TCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGG
R
TGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGCGGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCA
Celera SNP ID:            hCV25623800
SNP Position Transcript:  4815
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,2|G,16)   total(A,2|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1210, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:11278):
CACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGC
N
TCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCG
Celera SNP ID:            hCV15963285
SNP Position Transcript:  4692
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,26|T,8)   total(C,52|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1169, (P,CCT)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1169, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11279):
GATACGTATAAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGC
S
ACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAG
Celera SNP ID:            hCV7514683
SNP Position Transcript:  392
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None   



Context             (SEQ ID NO:11280):
ATTGGCACAGAACGATCACAGCGTACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTG
R
CAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGG
Celera SNP ID:            hCV25623803
SNP Position Transcript:  5481
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|G,1)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1432, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1432, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:11281):
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
R
TGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGC
Celera SNP ID:            hCV25623804
SNP Position Transcript:  5504
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,39)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1440, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,39)   total(A,3|G,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1440, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11282):
GACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGC
Y
GGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTA
Celera SNP ID:            hCV15874455
SNP Position Transcript:  539
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,118|C,1385)   total(C,1385|T,118) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1344, None   



Context             (SEQ ID NO:11283):
CCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGA
R
GCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGC
Celera SNP ID:            hCV25623805
SNP Position Transcript:  5557
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1344, None



Context             (SEQ ID NO:11284):
TGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGG
K
TAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCCTTCCT
Celera SNP ID:            hCV25623806
SNP Position Transcript:  5867
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,1)   caucasian(G,28)   total(G,51|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1561, (V,GTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1561, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:11285):
CTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCT
Y
CTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGAT
Celera SNP ID:            hCV25623840
SNP Position Transcript:  6432
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1749, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:11286):
CCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCGTACAGACCGAG
S
CACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGAC
Celera SNP ID:            hCV26778774
SNP Position Transcript:  5415
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1344, 1410, (A,GCC)   (G,GGC)      



Gene Number:                 253
Celera Gene:                 hCG40302 - 104000116756608
Celera Transcript:           hCT2285709 - 104000116756697
Public Transcript Accession: NM_004638
Celera Protein:              hCP1854272 - 197000069367406
Public Protein Accession:    NP_004629
Gene Symbol:                 BAT2
Protein Name:                HLA-B associated transcript 2;D6S51;D6S51E;G2
Celera Genomic Axis:         GA_x5YUV32W6W6(4653110..4668080)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:648):
ATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTATAAGGGCAAGTCCTTAGAGATCC
AGAAACCCGCTGGCATTTTCGACCCTCTCTCCGTCTTGTTCTCCAGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTA
TGCSACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGWCGGAACAGGATGGGCAAGCAA
ACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCYGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCG
AAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAGTCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTG
GAAGGGCATCAAGCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCGGCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGC
CGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGGKCGTGGCCCTGATGAGCTGGAGGGCCCGGAC
TCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCTACCGCGGAATGATGCCGCCTTTCATGTATC
CCCCATATCTCCCGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCG
AGGCTCAGGGCCACCAATGCRCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAAT
GATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGGWGCTG
AGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTCCTAA
GACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCCRGGAAC
TGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAAGCAGT
CGTCATCTGAGATTTCCCTGGCAGTGGAGCGGGCCCGGCGACGGCGAGAAGAAGAGGAGCGGCGCATGCAAGAAGAGCGCCGGGCAGCCTGTGCTGAGAA
GCTCAAGCGACTCGATGAAAAGTTTGGGGCACCTGACAAGCGGCTCAAAGCAGAGCCTGCTGCCCCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCT
GCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGAMAGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCC
AATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGTAGCACCAGCAGTGGCAGCTTCGAAGCCAGCCCAGT
GGAACCACAACTGCCCTCAAAAGAGGGTCCTGAACCACCAGAAGAGGTTCCTCCTCCTACCACACCCCCAGTTCCAAAGGTGGAACCCAAGGGTGATGGG
ATTGGTCCCACCCGCCAGCCCCCTAGTCAGGGCTTGGGCTACCCCAAATATCAGAAGTCGTTGCCTCCTCGTTTCCAGCGGCAGCAGCAGGAGCAGCTCC
TGAAGCAGCAGCAGCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGC
TGTGCCAGCTCCAMAGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGA
TGGATGATGATTCCTCCTTATGTGGACCCCCGGCTCCTCCAGGGTCGTCCCCCTCTAGACTTCTACCCTCCTGGTGTGCATCCCTCTGGCCTAGTTCCCC
GAGAGCGTTCAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTT
GGCCTGGGTRGGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGG
AGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGRRCCCCTGGGCCCCCAATCTCTCGCTTTCCTC
TGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCCACCACCCAAGAAGGAGCCCCCTAAGGAGGA
GACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCCMCCACCACGCAGAGAGAGTCGCACA
GAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCCGGGCTGGGCCTATAAAGAAACCTC
CACCACCTACAAAAGTAGAAGAGCTGCCTCCCAAGCCCCTCGAACAGGGGGATGAAACCCCCAAACCCCCAAAGCCAGACCCACTCAAGATAACCAAGGG
GAAGCTAGGGGGCCCCAAGGAGACCCCACCCAATGGAAATCTTTCCCCTGCCCCAAGGCTTCGGAGGGACTATTCGTATGAAAGAGTGGGTCCTACCTCT
TGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAGSCCGAAGCCGGGAATTCCGCA
GTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAG
CGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGGYGCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAG
GAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCSCCAGCCCGCTTCACTGCCC
GGGGTSGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGC
CAAGTCTCTGGCTCCCAAGAAACCTCCCACAGGCCCTTTGCCACCAAGTAAGGAGCCTTTGAAAGAGAAGTTGATCCCAGGGCCTCTGTCCCCTGTGGCG
CGCGGAGGCAGCAATGGAGGTAGCAATGTGGGCATGGAAGATGGGGAGCGACCCCGAAGGAGGCGACATGGGAGGGCTCAGCAGCAGGATAAACCGCCTC
GTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCRCTCCTGSACCTGAGGAGGC
CCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAATGAGGAATGGGAG
ACTGCATCAGAGAGCAGTGACTTCACCAGTGAGCGCCGAGGGGACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGG
GAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCGYGGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCG
GCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCARCAGTGGCAGCAGCAGTGGAGGAGSCRGTGGGGGTCCTGGAGGAAGG
ACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGGGCTTCCCCTGCCTCCCCCAC
CTCCCAGCAGTTCTGCTGTCTTCCGCCTGGACCAAGTTATCCACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAG
TGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGCNTCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGG
GTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGRTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCT
TTCCCCCTAAACGTCGGGAGCRGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCC
TGAGGGCCCAGGCCCTCAGGCAGAGTCCAGAGATACAGGCACAGAGGCCCTGACCCCTCACATCTGGAACCGTTTACATACTGCCACTAGCCGAAAGAGT
TACCGGCCCAGCTCCATGGAGCCTTGGATGGAGCCCCTGAGTCCTTTTGAGGATGTGGCTGGCACAGAAATGAGTCAGTCTGACAGTGGGGTGGACCTGA
GTGGGGATTCTCAGGTGTCATCAGGTCCCTGCAGCCAGCGAAGTTCCCCTGATGGAGGACTCAAGGGGGCAGCAGAGGGACCCCCCAAGAGGCCTGGAGG
CTCCTCACCCCTGAATGCTGTTCCTTGTGAGGGTCCACCTGGCTCTGAACCTCCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTG
CCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCRTACAGACCGAGSCACAGAGCCTGGCCCCATTCGGCCATCCCATCGAC
CTGGTCCCCCAGTCCAGTTTGGCACTAGTGRCAAGGACTCAGACTTACGCCTARTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGT
CACTGARGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTC
CCGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTC
ARTTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCSGGCCCAGCCCCTCCCTC
AGCACTGCTCTCTGGGKTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTAC
CCTCCACCTTCCTTCCTCTACTCTCCGGCTTTCTGCCCCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATT
TTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGGMTTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCC
TGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCTYCCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCT
GTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAGGCCCTTCCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAA
AGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCAYGGACTCCCCCAACTGGAAGACGCCCTTCTTCCCTTAGGTCCTY
CTCTGGCCTCAATTCCCGTCTSAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGAT
GCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGCYGCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGG
AGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCG
GGGAGGGGTTSTGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTT

Protein Sequence    (SEQ ID NO:1345):
MPPPANLPSLKAENKGNDPNVSLVPKDGTGWASKQEQSDPKSSDASTAQPPESQPLPASQTPASNQPKRPPAAPENTPLVPSGVKSWAQASVTHGAHGDG
GRASSLLSRFSREEFPTLQAAGDQDKAAKERESAEQSSGPGPSLRPQNSTTWRDGGGRGPDELEGPDSKLHHGHDPRGGLQPSGPPQFPPYRGMMPPFMY
PPYLPFPPPYGPQGPYRYPTPDGPSRFPRVAGPRGSGPPMRLVEPVGRPSILKEDNLKEFDQLDQENDDGWAGAHEEVDYTEKLKFSDEEDGRDSDEEGA
EGHRDSQSASGEERPPEADGKKGNSPNSEPPTPKTAWAETSRPPETEPGPPAPKPPLPPPHRGPAGNWGPPGDYPDRGGPPCKPPAPEDEDEAWRQRRKQ
SSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAPDKRLKAEPAAPPAAPSTPAPPPAVPKELPAPPAPPPASAPTPEKEPEEPAQAPPA
QSTPTPGVAAAPTLVSGGGSTSSTSSGSFEASPVEPQLPSKEGPEPPEEVPPPTTPPVPKVEPKGDGIGPTRQPPSQGLGYPKYQKSLPPRFQRQQQEQL
LKQQQQHQWQQHQQGSAPPTPVPPSPPQPVTLGAVPAPQAPPPPPKALYPGALGRPPPMPPMNFDPRWMMIPPYVDPRLLQGRPPLDFYPPGVHPSGLVP
RERSDSGGSSSEPFDRHAPAMLRERGTPPVDPKLAWVGDVFTATPAEPRPLTSPLRQAADEDDKGMRSETPPVPPPPPYLASYPGFPENGAPGPPISRFP
LEEPGPRPLPWPPGSDEVAKIQTPPPKKEPPKEETAQLTGPEAGRKPARGVGSGGQGPPPPRRESRTETRWGPRPGSSRRGIPPEEPGAPPRRAGPIKKP
PPPTKVEELPPKPLEQGDETPKPPKPDPLKITKGKLGGPKETPPNGNLSPAPRLRRDYSYERVGPTSCRGRGRGEYFARGRGFRGTYGGRGRGARSREFR
SYREFRGDDGRGGGTGGPNHPPAPRGRTASETRSEGSEYEEIPKRRRQRGSETGSETHESDLAPSDKEAPTPKEGTLTQVPLAPPPPGAPPSPAPARFTA
RGGRVFTPRGVPSRRGRGGGRPPPQVCPGWSPPAKSLAPKKPPTGPLPPSKEPLKEKLIPGPLSPVARGGSNGGSNVGMEDGERPRRRRHGRAQQQDKPP
RFRRLKQERENAARGSEGKPSLTLPASAPGPEEALTTVTVAPAPRRAAAKSPDLSNQNSDQANEEWETASESSDFTSERRGDKEAPPPVLLTPKAVGTPG
GGGGGAVPGISAMSRGDLSQRAKDLSKRSFSSQRPGMERQNRRPGPGGKAGSSGSSSGGGGGGPGGRTGPGRGDKRSWPSPKNRSRPPEERPPGLPLPPP
PPSSSAVFRLDQVIHSNPAGIQQALAQLSSRQGSVTAPGGHPRHKPGPPQAPQGPSPRPPTRYEPQRVNSGLSSDPHFEEPGPMVRGVGGTPRDSAGVSP
FPPKRRERPPRKPELLQEESLPPPHSSGFLGSKPEGPGPQAESRDTGTEALTPHIWNRLHTATSRKSYRPSSMEPWMEPLSPFEDVAGTEMSQSDSGVDL
SGDSQVSSGPCSQRSSPDGGLKGAAEGPPKRPGGSSPLNAVPCEGPPGSEPPRRPPPAPHDGDRKELPREQPLPPGPIGTERSQRTDRGTEPGPIRPSHR
PGPPVQFGTSDKDSDLRLVVGDSLKAEKELTASVTEAIPVSRDWELLPSAAASAEPQSKNLDSGHCVPEPSSSGQRLYPEVFYGSAGPSSSQISGGAMDS
QLHPNSGGFRPGTPSLHPYRSQPLYLPPGPAPPSALLSGVALKGQFLDFSTMQATELGKLPAGGVLYPPPSFLYSPAFCPSPLPDTSLLQVRQDLPSPSD
FYSTPLQPGGQSGFLPSGAPAQQMLLPMVDSQLPVVNFGSLPPAPPPAPPPLSLLPVGPALQPPSLAVRPPPAPATRVLPSPARPFPASLGRAELHPVEL
KPFQDYQKLSSNLGGPGSSRTPPTGRRPSSLRSFSGLNSRLKATPSTYSGVFRTQRVDLYQQASPPDALRWIPKPWERTGPPPREGPSRRAEEPGSRGDK
EPGLPPPR


SNP Information

Context             (SEQ ID NO:11287):
CCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGG
M
TTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTC
Celera SNP ID:            hCV25623829
SNP Position Transcript:  5938
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(A,1|C,23)   total(A,1|C,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1913, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:11288):
AGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGG
K
CGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCT
Celera SNP ID:            hCV25623848
SNP Position Transcript:  670
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,25|T,1)   total(G,60|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 157, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,27|T,1)   total(G,60|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 157, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:11289):
GCAGCAGGATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCC
R
CTCCTGGACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCA
Celera SNP ID:            hCV25623791
SNP Position Transcript:  3881
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,22)   total(A,1|G,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1228, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:11290):
ACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAGGC
R
GTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGG
Celera SNP ID:            hCV25623792
SNP Position Transcript:  4280
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,1|G,37)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1361, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:11291):
AGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCA
R
CAGTGGCAGCAGCAGTGGAGGAGGCGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGT
Celera SNP ID:            hCV25623793
SNP Position Transcript:  4254
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1352, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:11292):
ATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGC
S
CCAGCCCGCTTCACTGCCCGGGGTGGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCC
Celera SNP ID:            hCV11917406
SNP Position Transcript:  3481
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1094, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:11293):
ACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCG
Y
GGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCA
Celera SNP ID:            hCV25623794
SNP Position Transcript:  4144
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,22)   total(C,41|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1315, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11294):
GATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCGCTCCTG
S
ACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAAT
Celera SNP ID:            hCV11917408
SNP Position Transcript:  3888
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,21)   caucasian(C,1|G,21)   total(C,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1230, (A,GCA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1230, (A,GCA)   (G,GGA)      



Context             (SEQ ID NO:11295):
AGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGG
W
GCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTC
Celera SNP ID:            hCV3273990
SNP Position Transcript:  1096
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,34|T,4)   total(A,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 299, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 299, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11296):
AGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGG
R
GCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTC
Celera SNP ID:            hCV7514704
SNP Position Transcript:  2569
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 790, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:11297):
CCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCC
M
CCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCC
Celera SNP ID:            hCV25623796
SNP Position Transcript:  2776
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,1)   caucasian(A,33|C,1)   total(A,50|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 859, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:11298):
CCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGC
R
CTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCC
Celera SNP ID:            hCV3273991
SNP Position Transcript:  921
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 241, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11299):
GGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGA
R
CCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCC
Celera SNP ID:            hCV7514705
SNP Position Transcript:  2570
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 791, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11300):
CGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCA
R
TTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAG
Celera SNP ID:            hCV7514722
SNP Position Transcript:  5602
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,1)   caucasian(A,18|G,6)   total(A,29|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1801, (Q,CAA)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1801, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11301):
GGGGAGCCATGGACTCTCAATTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCC
S
GGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGGGTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGG
Celera SNP ID:            hCV7514723
SNP Position Transcript:  5683
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 1828, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11302):
CCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGC
R
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
Celera SNP ID:            hCV3273977
SNP Position Transcript:  5253
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,18|G,22)   total(A,35|G,43)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1685, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,13|G,19)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1685, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2)Gaucasian(A,108|G,196)   Ghinese(A,27|G,31)   Japanese(A,8|G,12)   African(G,48|A,50)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1685, (H,CAT)   (R,CGT)      1685, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:11303):
GACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGGTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGC
R
GCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGCCCTCAGGCA
Celera SNP ID:            hCV25623799
SNP Position Transcript:  4722
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,11)   caucasian(G,26)   total(A,1|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1508, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11304):
TACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGC
Y
GCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGC
Celera SNP ID:            hCV7514724
SNP Position Transcript:  6441
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,37|T,3)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2081, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2081, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11305):
GCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTT
S
TGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTT
Celera SNP ID:            hCV902448
SNP Position Transcript:  6611
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1345, None   



Context             (SEQ ID NO:11306):
CCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGA
M
AGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGT
Celera SNP ID:            hCV7514692
SNP Position Transcript:  1665
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,8)   caucasian(A,30|C,8)   total(A,52|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 489, (K,AAA)   (T,ACA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|C,9)   caucasian(A,20|C,6)   total(A,43|C,15)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 489, (K,AAA)   (T,ACA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 489, (T,ACA)   (K,AAA)      489, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:11307):
AAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAG
W
CGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCCGGAATCGCAGCCACTGCCGGCTTCACAG
Celera SNP ID:            hCV29231527
SNP Position Transcript:  279
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 27, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:11308):
GCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCCA
M
AGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATTCC
Celera SNP ID:            hCV26778761
SNP Position Transcript:  2114
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 639, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:11309):
CCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCA
Y
GGACTCCCCCAACTGGAAGACGCCCTTCTTCCCTTAGGTCCTTCTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCG
Celera SNP ID:            hCV25623831
SNP Position Transcript:  6257
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,32|T,2)   total(C,62|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2020, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,32|T,2)   total(C,68|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2020, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:11310):
AACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGACGCCCTTCTTCCCTTAGGTCCTTCTCTGGCCTCAATTCCCGTCT
S
AAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGC
Celera SNP ID:            hCV25623832
SNP Position Transcript:  6322
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,28)   total(C,63|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 2041, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 2041, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,32)   total(C,61|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 2041, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11311):
AAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAG
S
CGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCG
Celera SNP ID:            hCV26778769
SNP Position Transcript:  4278
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1360, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11312):
AGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCT
Y
CCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAG
Celera SNP ID:            hCV2451889
SNP Position Transcript:  6050
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,26|T,14)   total(C,50|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1951, (P,CCC)   (S,TCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,3)      total(C,3|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1951, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:11313):
TCCTAAGACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCC
R
GGAACTGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAA
Celera SNP ID:            hCV25623781
SNP Position Transcript:  1295
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 366, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:11314):
CAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGT
R
GGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTC
Celera SNP ID:            hCV25623787
SNP Position Transcript:  2410
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,6)   caucasian(A,24|G,6)   total(A,46|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 737, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1345, 737, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11315):
GAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAG
S
CCGAAGCCGGGAATTCCGCAGTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGC
Celera SNP ID:            hCV7514713
SNP Position Transcript:  3180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 994, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11316):
AGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGG
Y
GCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCA
Celera SNP ID:            hCV7514714
SNP Position Transcript:  3335
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1046, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:11317):
TCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCCCCAGCCCGCTTCACTGCCCGGGGT
S
GGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTC
Celera SNP ID:            hCV7514715
SNP Position Transcript:  3506
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1103, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:11318):
TCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGG
R
TGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGCGGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCA
Celera SNP ID:            hCV25623800
SNP Position Transcript:  4665
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,2|G,16)   total(A,2|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1489, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:11319):
CACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGC
N
TCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCG
Celera SNP ID:            hCV15963285
SNP Position Transcript:  4542
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,26|T,8)   total(C,52|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1448, (P,CCT)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1448, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11320):
AACCCGCTGGCATTTTCGACCCTCTCTCCGTCTTGTTCTCCAGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGC
S
ACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAG
Celera SNP ID:            hCV7514683
SNP Position Transcript:  204
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:11321):
ATTGGCACAGAACGATCACAGCGTACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTG
R
CAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGG
Celera SNP ID:            hCV25623803
SNP Position Transcript:  5331
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|G,1)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1711, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1711, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:11322):
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
R
TGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGC
Celera SNP ID:            hCV25623804
SNP Position Transcript:  5354
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,39)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1719, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,39)   total(A,3|G,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1719, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11323):
GACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGC
Y
GGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTA
Celera SNP ID:            hCV15874455
SNP Position Transcript:  351
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,118|C,1385)   total(C,1385|T,118) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 51, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11324):
CCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGA
R
GCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGC
Celera SNP ID:            hCV25623805
SNP Position Transcript:  5407
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1345, None



Context             (SEQ ID NO:11325):
TGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGG
K
TAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCCTTCCT
Celera SNP ID:            hCV25623806
SNP Position Transcript:  5717
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,1)   caucasian(G,28)   total(G,51|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1840, (V,GTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1840, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:11326):
AAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGACGCCCTTCTTCCCTTAGGTCCT
Y
CTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGAT
Celera SNP ID:            hCV25623840
SNP Position Transcript:  6300
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 2034, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:11327):
CCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCGTACAGACCGAG
S
CACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGAC
Celera SNP ID:            hCV26778774
SNP Position Transcript:  5265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1345, 1689, (A,GCC)   (G,GGC)      



Gene Number:                 253
Celera Gene:                 hCG40302 - 104000116756608
Celera Transcript:           hCT2285697 - 104000116756731
Public Transcript Accession: NM_004638
Celera Protein:              hCP1854273 - 197000069367407
Public Protein Accession:    NP_004629
Gene Symbol:                 BAT2
Protein Name:                HLA-B associated transcript 2;D6S51;D6S51E;G2
Celera Genomic Axis:         GA_x5YUV32W6W6(4653110..4668081)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:649):
ATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTATAAGGGCAAGTCCTTAGAGATCC
AGAAACCCGCTGGCATTTTCGACCCTCTCTCCGTCTTGTTCTCCAGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTA
TGCSACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGWCGGAACAGGATGGGCAAGCAA
ACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCYGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCG
AAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAGTCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTG
GAAGGGCATCAAGCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCGGCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGC
CGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGGKCGTGGCCCTGATGAGCTGGAGGGCCCGGAC
TCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCTACCGCGGAATGATGCCGCCTTTCATGTATC
CCCCATATCTCCCGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCG
AGGCTCAGGGCCACCAATGCRCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAAT
GATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGGWGCTG
AGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTCCTAA
GACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCCRGGAAC
TGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAAGCAGT
CGTCATCTGAGATTTCCCTGGCAGTGGAGCGGGCCCGGCGACGGCGAGAAGAAGAGGAGCGGCGCATGCAAGAAGAGCGCCGGGCAGCCTGTGCTGAGAA
GCTCAAGCGACTCGATGAAAAGTTTGGGGCACCTGACAAGCGGCTCAAAGCAGAGCCTGCTGCCCCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCT
GCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGAMAGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCC
AATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGTAGCACCAGCAGTGGCAGCTTCGAAGCCAGCCCAGT
GGAACCACAACTGCCCTCAAAAGAGGGTCCTGAACCACCAGAAGAGGTTCCTCCTCCTACCACACCCCCAGTTCCAAAGGTGGAACCCAAGGGTGATGGG
ATTGGTCCCACCCGCCAGCCCCCTAGTCAGGGCTTGGGCTACCCCAAATATCAGAAGTCGTTGCCTCCTCGTTTCCAGCGGCAGCAGCAGGAGCAGCTCC
TGAAGCAGCAGCAGCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGC
TGTGCCAGCTCCAMAGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGA
TGGATGATGATTCCTCCTTATGTGGACCCCCGGCTCCTCCAGGGTCGTCCCCCTCTAGACTTCTACCCTCCTGGTGTGCATCCCTCTGGCCTAGTTCCCC
GAGAGCGTTCAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTT
GGCCTGGGTRGGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGG
AGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGRRCCCCTGGGCCCCCAATCTCTCGCTTTCCTC
TGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCCACCACCCAAGAAGGAGCCCCCTAAGGAGGA
GACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCCMCCACCACGCAGAGAGAGTCGCACA
GAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCCGGGCTGGGCCTATAAAGAAACCTC
CACCACCTACAAAAGTAGAAGAGCTGCCTCCCAAGCCCCTCGAACAGGGGGATGAAACCCCCAAACCCCCAAAGCCAGACCCACTCAAGATAACCAAGGG
GAAGCTAGGGGGCCCCAAGGAGACCCCACCCAATGGAAATCTTTCCCCTGCCCCAAGGCTTCGGAGGGACTATTCGTATGAAAGAGTGGGTCCTACCTCT
TGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAGSCCGAAGCCGGGAATTCCGCA
GTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAG
CGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGGYGCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAG
GAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCSCCAGCCCGCTTCACTGCCC
GGGGTSGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGC
CAAGTCTCTGGCTCCCAAGAAACCTCCCACAGGCCCTTTGCCACCAAGTAAGGAGCCTTTGAAAGAGAAGTTGATCCCAGGGCCTCTGTCCCCTGTGGCG
CGCGGAGGCAGCAATGGAGGTAGCAATGTGGGCATGGAAGATGGGGAGCGACCCCGAAGGAGGCGACATGGGAGGGCTCAGCAGCAGGATAAACCGCCTC
GTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCRCTCCTGSACCTGAGGAGGC
CCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAATGAGGAATGGGAG
ACTGCATCAGAGAGCAGTGACTTCACCAGTGAGCGCCGAGGGGACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGG
GAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCGYGGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCG
GCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCARCAGTGGCAGCAGCAGTGGAGGAGSCRGTGGGGGTCCTGGAGGAAGG
ACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGGGCTTCCCCTGCCTCCCCCAC
CTCCCAGCAGTTCTGCTGTCTTCCGCCTGGACCAAGTTATCCACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAG
TGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGCNTCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGG
GTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGRTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCT
TTCCCCCTAAACGTCGGGAGCRGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCC
TGAGGGCCCAGGCCCTCAGGCAGAGTCCAGAGATACAGGCACAGAGGCCCTGACCCCTCACATCTGGAACCGTTTACATACTGCCACTAGCCGAAAGAGT
TACCGGCCCAGCTCCATGGAGCCTTGGATGGAGCCCCTGAGTCCTTTTGAGGATGTGGCTGGCACAGAAATGAGTCAGTCTGACAGTGGGGTGGACCTGA
GTGGGGATTCTCAGGTGTCATCAGGTCCCTGCAGCCAGCGAAGTTCCCCTGATGGAGGACTCAAGGGGGCAGCAGAGGGACCCCCCAAGAGGCCTGGAGG
CTCCTCACCCCTGAATGCTGTTCCTTGTGAGGGTCCACCTGGCTCTGAACCTCCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTG
CCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCRTACAGACCGAGSCACAGAGCCTGGCCCCATTCGGCCATCCCATCGAC
CTGGTCCCCCAGTCCAGTTTGGCACTAGTGRCAAGGACTCAGACTTACGCCTARTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGT
CACTGARGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTC
CCGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTC
ARTTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCSGGCCCAGCCCCTCCCTC
AGCACTGCTCTCTGGGKTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTAC
CCTCCACCTTCCTTCCTCTACTCTCCGGCTTTCTGCCCCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATT
TTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGGMTTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCC
TGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCTYCCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCT
GTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAGGCCCTTCCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAA
AGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCAYGGACTCCCCCAACTGGAAGGTCCTYCTCTGGCCTCAATTCCCG
TCTSAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCT
AAGCCTTGGGAGCGGACAGGGCYGCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCAC
CCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTTSTGGGGCT
GGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTTA

Protein Sequence    (SEQ ID NO:1346):
MPPPANLPSLKAENKGNDPNVSLVPKDGTGWASKQEQSDPKSSDASTAQPPESQPLPASQTPASNQPKRPPAAPENTPLVPSGVKSWAQASVTHGAHGDG
GRASSLLSRFSREEFPTLQAAGDQDKAAKERESAEQSSGPGPSLRPQNSTTWRDGGGRGPDELEGPDSKLHHGHDPRGGLQPSGPPQFPPYRGMMPPFMY
PPYLPFPPPYGPQGPYRYPTPDGPSRFPRVAGPRGSGPPMRLVEPVGRPSILKEDNLKEFDQLDQENDDGWAGAHEEVDYTEKLKFSDEEDGRDSDEEGA
EGHRDSQSASGEERPPEADGKKGNSPNSEPPTPKTAWAETSRPPETEPGPPAPKPPLPPPHRGPAGNWGPPGDYPDRGGPPCKPPAPEDEDEAWRQRRKQ
SSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAPDKRLKAEPAAPPAAPSTPAPPPAVPKELPAPPAPPPASAPTPEKEPEEPAQAPPA
QSTPTPGVAAAPTLVSGGGSTSSTSSGSFEASPVEPQLPSKEGPEPPEEVPPPTTPPVPKVEPKGDGIGPTRQPPSQGLGYPKYQKSLPPRFQRQQQEQL
LKQQQQHQWQQHQQGSAPPTPVPPSPPQPVTLGAVPAPQAPPPPPKALYPGALGRPPPMPPMNFDPRWMMIPPYVDPRLLQGRPPLDFYPPGVHPSGLVP
RERSDSGGSSSEPFDRHAPAMLRERGTPPVDPKLAWVGDVFTATPAEPRPLTSPLRQAADEDDKGMRSETPPVPPPPPYLASYPGFPENGAPGPPISRFP
LEEPGPRPLPWPPGSDEVAKIQTPPPKKEPPKEETAQLTGPEAGRKPARGVGSGGQGPPPPRRESRTETRWGPRPGSSRRGIPPEEPGAPPRRAGPIKKP
PPPTKVEELPPKPLEQGDETPKPPKPDPLKITKGKLGGPKETPPNGNLSPAPRLRRDYSYERVGPTSCRGRGRGEYFARGRGFRGTYGGRGRGARSREFR
SYREFRGDDGRGGGTGGPNHPPAPRGRTASETRSEGSEYEEIPKRRRQRGSETGSETHESDLAPSDKEAPTPKEGTLTQVPLAPPPPGAPPSPAPARFTA
RGGRVFTPRGVPSRRGRGGGRPPPQVCPGWSPPAKSLAPKKPPTGPLPPSKEPLKEKLIPGPLSPVARGGSNGGSNVGMEDGERPRRRRHGRAQQQDKPP
RFRRLKQERENAARGSEGKPSLTLPASAPGPEEALTTVTVAPAPRRAAAKSPDLSNQNSDQANEEWETASESSDFTSERRGDKEAPPPVLLTPKAVGTPG
GGGGGAVPGISAMSRGDLSQRAKDLSKRSFSSQRPGMERQNRRPGPGGKAGSSGSSSGGGGGGPGGRTGPGRGDKRSWPSPKNRSRPPEERPPGLPLPPP
PPSSSAVFRLDQVIHSNPAGIQQALAQLSSRQGSVTAPGGHPRHKPGPPQAPQGPSPRPPTRYEPQRVNSGLSSDPHFEEPGPMVRGVGGTPRDSAGVSP
FPPKRRERPPRKPELLQEESLPPPHSSGFLGSKPEGPGPQAESRDTGTEALTPHIWNRLHTATSRKSYRPSSMEPWMEPLSPFEDVAGTEMSQSDSGVDL
SGDSQVSSGPCSQRSSPDGGLKGAAEGPPKRPGGSSPLNAVPCEGPPGSEPPRRPPPAPHDGDRKELPREQPLPPGPIGTERSQRTDRGTEPGPIRPSHR
PGPPVQFGTSDKDSDLRLVVGDSLKAEKELTASVTEAIPVSRDWELLPSAAASAEPQSKNLDSGHCVPEPSSSGQRLYPEVFYGSAGPSSSQISGGAMDS
QLHPNSGGFRPGTPSLHPYRSQPLYLPPGPAPPSALLSGVALKGQFLDFSTMQATELGKLPAGGVLYPPPSFLYSPAFCPSPLPDTSLLQVRQDLPSPSD
FYSTPLQPGGQSGFLPSGAPAQQMLLPMVDSQLPVVNFGSLPPAPPPAPPPLSLLPVGPALQPPSLAVRPPPAPATRVLPSPARPFPASLGRAELHPVEL
KPFQDYQKLSSNLGGPGSSRTPPTGRSFSGLNSRLKATPSTYSGVFRTQRVDLYQQASPPDALRWIPKPWERTGPPPREGPSRRAEEPGSRGDKEPGLPP
PR


SNP Information

Context             (SEQ ID NO:11328):
CCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGG
M
TTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTC
Celera SNP ID:            hCV25623829
SNP Position Transcript:  5938
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(A,1|C,23)   total(A,1|C,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1913, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:11329):
AGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGG
K
CGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCT
Celera SNP ID:            hCV25623848
SNP Position Transcript:  670
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,25|T,1)   total(G,60|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 157, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,27|T,1)   total(G,60|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 157, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:11330):
GCAGCAGGATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCC
R
CTCCTGGACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCA
Celera SNP ID:            hCV25623791
SNP Position Transcript:  3881
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,22)   total(A,1|G,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1228, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:11331):
ACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAGGC
R
GTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGG
Celera SNP ID:            hCV25623792
SNP Position Transcript:  4280
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,1|G,37)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1361, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:11332):
AGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCA
R
CAGTGGCAGCAGCAGTGGAGGAGGCGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGT
Celera SNP ID:            hCV25623793
SNP Position Transcript:  4254
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1352, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:11333):
ATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGC
S
CCAGCCCGCTTCACTGCCCGGGGTGGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCC
Celera SNP ID:            hCV11917406
SNP Position Transcript:  3481
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1094, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:11334):
ACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCG
Y
GGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCA
Celera SNP ID:            hCV25623794
SNP Position Transcript:  4144
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,22)   total(C,41|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1315, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11335):
GATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCGCTCCTG
S
ACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAAT
Celera SNP ID:            hCV11917408
SNP Position Transcript:  3888
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,21)   caucasian(C,1|G,21)   total(C,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1230, (A,GCA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1230, (A,GCA)   (G,GGA)      



Context             (SEQ ID NO:11336):
AGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGG
W
GCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTC
Celera SNP ID:            hCV3273990
SNP Position Transcript:  1096
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,34|T,4)   total(A,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 299, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 299, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11337):
AGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGG
R
GCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTC
Celera SNP ID:            hCV7514704
SNP Position Transcript:  2569
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 790, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:11338):
CCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCC
M
CCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCC
Celera SNP ID:            hCV25623796
SNP Position Transcript:  2776
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,1)   caucasian(A,33|C,1)   total(A,50|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 859, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:11339):
CCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGC
R
CTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCC
Celera SNP ID:            hCV3273991
SNP Position Transcript:  921
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 241, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11340):
GGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGA
R
CCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCC
Celera SNP ID:            hCV7514705
SNP Position Transcript:  2570
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 791, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11341):
CGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCA
R
TTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAG
Celera SNP ID:            hCV7514722
SNP Position Transcript:  5602
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,1)   caucasian(A,18|G,6)   total(A,29|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1801, (Q,CAA)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1801, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11342):
GGGGAGCCATGGACTCTCAATTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCC
S
GGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGGGTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGG
Celera SNP ID:            hCV7514723
SNP Position Transcript:  5683
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 1828, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11343):
CCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGC
R
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
Celera SNP ID:            hCV3273977
SNP Position Transcript:  5253
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,18|G,22)   total(A,35|G,43)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1685, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,13|G,19)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1685, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2)Gaucasian(A,108|G,196)   Ghinese(A,27|G,31)   Japanese(A,8|G,12)   African(G,48|A,50)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1685, (H,CAT)   (R,CGT)      1685, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:11344):
GACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGGTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGC
R
GCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGCCCTCAGGCA
Celera SNP ID:            hCV25623799
SNP Position Transcript:  4722
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,11)   caucasian(G,26)   total(A,1|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1508, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11345):
TACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGC
Y
GCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGC
Celera SNP ID:            hCV7514724
SNP Position Transcript:  6423
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,37|T,3)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2075, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2075, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11346):
GCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTT
S
TGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTTA
Celera SNP ID:            hCV902448
SNP Position Transcript:  6593
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1346, None   



Context             (SEQ ID NO:11347):
CCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGA
M
AGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGT
Celera SNP ID:            hCV7514692
SNP Position Transcript:  1665
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,8)   caucasian(A,30|C,8)   total(A,52|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 489, (K,AAA)   (T,ACA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|C,9)   caucasian(A,20|C,6)   total(A,43|C,15)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 489, (K,AAA)   (T,ACA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 489, (T,ACA)   (K,AAA)      489, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:11348):
AAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAG
W
CGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCCGGAATCGCAGCCACTGCCGGCTTCACAG
Celera SNP ID:            hCV29231527
SNP Position Transcript:  279
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 27, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:11349):
GCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCCA
M
AGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATTCC
Celera SNP ID:            hCV26778761
SNP Position Transcript:  2114
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 639, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:11350):
CCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCA
Y
GGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCT
Celera SNP ID:            hCV25623831
SNP Position Transcript:  6257
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,32|T,2)   total(C,62|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2020, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,32|T,2)   total(C,68|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2020, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:11351):
CGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCT
S
AAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGC
Celera SNP ID:            hCV25623832
SNP Position Transcript:  6304
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,28)   total(C,63|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 2035, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 2035, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,32)   total(C,61|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 2035, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11352):
AAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAG
S
CGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCG
Celera SNP ID:            hCV26778769
SNP Position Transcript:  4278
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1360, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11353):
AGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCT
Y
CCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAG
Celera SNP ID:            hCV2451889
SNP Position Transcript:  6050
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,26|T,14)   total(C,50|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1951, (P,CCC)   (S,TCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,3)      total(C,3|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1951, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:11354):
TCCTAAGACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCC
R
GGAACTGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAA
Celera SNP ID:            hCV25623781
SNP Position Transcript:  1295
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 366, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:11355):
CAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGT
R
GGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTC
Celera SNP ID:            hCV25623787
SNP Position Transcript:  2410
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,6)   caucasian(A,24|G,6)   total(A,46|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 737, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1346, 737, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11356):
GAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAG
S
CCGAAGCCGGGAATTCCGCAGTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGC
Celera SNP ID:            hCV7514713
SNP Position Transcript:  3180
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 994, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11357):
AGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGG
Y
GCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCA
Celera SNP ID:            hCV7514714
SNP Position Transcript:  3335
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1046, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:11358):
TCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCCCCAGCCCGCTTCACTGCCCGGGGT
S
GGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTC
Celera SNP ID:            hCV7514715
SNP Position Transcript:  3506
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1103, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:11359):
TCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGG
R
TGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGCGGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCA
Celera SNP ID:            hCV25623800
SNP Position Transcript:  4665
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,2|G,16)   total(A,2|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1489, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:11360):
CACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGC
N
TCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCG
Celera SNP ID:            hCV15963285
SNP Position Transcript:  4542
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,26|T,8)   total(C,52|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1448, (P,CCT)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1448, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11361):
AACCCGCTGGCATTTTCGACCCTCTCTCCGTCTTGTTCTCCAGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGC
S
ACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAG
Celera SNP ID:            hCV7514683
SNP Position Transcript:  204
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:11362):
ATTGGCACAGAACGATCACAGCGTACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTG
R
CAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGG
Celera SNP ID:            hCV25623803
SNP Position Transcript:  5331
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|G,1)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1711, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1711, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:11363):
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
R
TGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGC
Celera SNP ID:            hCV25623804
SNP Position Transcript:  5354
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,39)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1719, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,39)   total(A,3|G,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1719, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11364):
GACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGC
Y
GGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTA
Celera SNP ID:            hCV15874455
SNP Position Transcript:  351
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,118|C,1385)   total(C,1385|T,118) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 51, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11365):
CCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGA
R
GCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGC
Celera SNP ID:            hCV25623805
SNP Position Transcript:  5407
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1346, None



Context             (SEQ ID NO:11366):
TGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGG
K
TAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCCTTCCT
Celera SNP ID:            hCV25623806
SNP Position Transcript:  5717
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,1)   caucasian(G,28)   total(G,51|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1840, (V,GTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1840, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:11367):
CTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCT
Y
CTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGAT
Celera SNP ID:            hCV25623840
SNP Position Transcript:  6282
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 2028, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:11368):
CCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCGTACAGACCGAG
S
CACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGAC
Celera SNP ID:            hCV26778774
SNP Position Transcript:  5265
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1346, 1689, (A,GCC)   (G,GGC)      



Gene Number:                 253
Celera Gene:                 hCG40302 - 104000116756608
Celera Transcript:           hCT31557 - 104000116756644
Public Transcript Accession: NM_004638
Celera Protein:              hCP52089 - 197000069367404
Public Protein Accession:    NP_004629
Gene Symbol:                 BAT2
Protein Name:                HLA-B associated transcript 2;D6S51;D6S51E;G2
Celera Genomic Axis:         GA_x5YUV32W6W6(4651023..4668081)
Chromosome:                  Chr6
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:650):
CCCGGATGGGCCGTTAGTCGGGGCTCAGCCGCGGAGTGAGCGAGGGAGACGGGAGGAGCCGAACCCGGCGCCATCCGCCGCCATCCTCCCCCGCCCCACC
GCCATCCCGTCCCGGGGAGCCCCTAGGCCCGGGTCCCGGATCCCCGCGCACCCGGCCAGGCTCTGGCACGTTTTGGGGGAGGTGCCTGCAGGACCCAACA
TACTCAATGAGCTTCCAGCGCAATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTAT
AAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGCSACCTCCAG
CCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGWCGGAACAGGATGGGCAAGCAAACAGGAGCAGTC
CGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCYGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCA
GCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAGTCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTGGAAGGGCATCAA
GCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCGGCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTC
TGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGGKCGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCAT
CATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCTACCGCGGAATGATGCCGCCTTTCATGTATCCCCCATATCTCC
CGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCC
ACCAATGCRCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGG
GCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGGWGCTGAGGGCCACAGGG
ATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTCCTAAGACGGCCTGGGC
AGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCCRGGAACTGGGGCCCCCCT
GGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAAGCAGTCGTCATCTGAGA
TTTCCCTGGCAGTGGAGCGGGCCCGGCGACGGCGAGAAGAAGAGGAGCGGCGCATGCAAGAAGAGCGCCGGGCAGCCTGTGCTGAGAAGCTCAAGCGACT
CGATGAAAAGTTTGGGGCACCTGACAAGCGGCTCAAAGCAGAGCCTGCTGCCCCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAA
GAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGAMAGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTA
CTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGTAGCACCAGCAGTGGCAGCTTCGAAGCCAGCCCAGTGGAACCACAACT
GCCCTCAAAAGAGGGTCCTGAACCACCAGAAGAGGTTCCTCCTCCTACCACACCCCCAGTTCCAAAGGTGGAACCCAAGGGTGATGGGATTGGTCCCACC
CGCCAGCCCCCTAGTCAGGGCTTGGGCTACCCCAAATATCAGAAGTCGTTGCCTCCTCGTTTCCAGCGGCAGCAGCAGGAGCAGCTCCTGAAGCAGCAGC
AGCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCC
AMAGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATT
CCTCCTTATGTGGACCCCCGGCTCCTCCAGGGTCGTCCCCCTCTAGACTTCTACCCTCCTGGTGTGCATCCCTCTGGCCTAGTTCCCCGAGAGCGTTCAG
ACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGTRGG
AGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCT
CCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGRRCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAG
GGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCCACCACCCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCT
GACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCCMCCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGG
GGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCCGGGCTGGGCCTATAAAGAAACCTCCACCACCTACAA
AAGTAGAAGAGCTGCCTCCCAAGCCCCTCGAACAGGGGGATGAAACCCCCAAACCCCCAAAGCCAGACCCACTCAAGATAACCAAGGGGAAGCTAGGGGG
CCCCAAGGAGACCCCACCCAATGGAAATCTTTCCCCTGCCCCAAGGCTTCGGAGGGACTATTCGTATGAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGG
GGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAGSCCGAAGCCGGGAATTCCGCAGTTACCGAGAGT
TTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGA
GTATGAGGAAATCCCCAAGCGGYGCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACA
CCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCSCCAGCCCGCTTCACTGCCCGGGGTSGGCGAG
TCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTCTCTGGC
TCCCAAGAAACCTCCCACAGGCCCTTTGCCACCAAGTAAGGAGCCTTTGAAAGAGAAGTTGATCCCAGGGCCTCTGTCCCCTGTGGCGCGCGGAGGCAGC
AATGGAGGTAGCAATGTGGGCATGGAAGATGGGGAGCGACCCCGAAGGAGGCGACATGGGAGGGCTCAGCAGCAGGATAAACCGCCTCGTTTCCGGAGGC
TGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCRCTCCTGSACCTGAGGAGGCCCTCACAACAGT
CACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAATGAGGAATGGGAGACTGCATCAGAG
AGCAGTGACTTCACCAGTGAGCGCCGAGGGGACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTG
GAGCCGTACCAGGTATTTCAGCCATGTCCCGYGGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGA
ACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCARCAGTGGCAGCAGCAGTGGAGGAGSCRGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGA
CGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGGGCTTCCCCTGCCTCCCCCACCTCCCAGCAGTT
CTGCTGTCTTCCGCCTGGACCAAGTTATCCACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACC
AGGGGGTCATCCAAGGCACAAGCCTGGGCNTCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGC
CTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGRTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAAC
GTCGGGAGCRGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGG
CCCTCAGGCAGAGTCCAGAGATACAGGCACAGAGGCCCTGACCCCTCACATCTGGAACCGTTTACATACTGCCACTAGCCGAAAGAGTTACCGGCCCAGC
TCCATGGAGCCTTGGATGGAGCCCCTGAGTCCTTTTGAGGATGTGGCTGGCACAGAAATGAGTCAGTCTGACAGTGGGGTGGACCTGAGTGGGGATTCTC
AGGTGTCATCAGGTCCCTGCAGCCAGCGAAGTTCCCCTGATGGAGGACTCAAGGGGGCAGCAGAGGGACCCCCCAAGAGGCCTGGAGGCTCCTCACCCCT
GAATGCTGTTCCTTGTGAGGGTCCACCTGGCTCTGAACCTCCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAG
CCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCRTACAGACCGAGSCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAG
TCCAGTTTGGCACTAGTGRCAAGGACTCAGACTTACGCCTARTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGARGCCAT
TCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGCCCAGC
TCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCARTTACATCCAA
ACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCSGGCCCAGCCCCTCCCTCAGCACTGCTCTC
TGGGKTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCC
TTCCTCTACTCTCCGGCTTTCTGCCCCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTC
CTCTGCAGCCTGGTGGCCAAAGTGGMTTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTT
TGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCTYCCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCA
CCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAGGCCCTTCCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGG
ATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCAYGGACTCCCCCAACTGGAAGGTCCTYCTCTGGCCTCAATTCCCGTCTSAAGGCCAC
GCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAG
CGGACAGGGCYGCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGA
GTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTTSTGGGGCTGGGGCCTCACTT
CCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTTK

Protein Sequence    (SEQ ID NO:1347):
MSDRSGPTAKGKDGKKYSSLNLFDTYKGKSLEIQKPAVAPRHGLQSLGKVAIARRMPPPANLPSLKAENKGNDPNVSLVPKDGTGWASKQEQSDPKSSDA
STAQPPESQPLPASQTPASNQPKRPPAAPENTPLVPSGVKSWAQASVTHGAHGDGGRASSLLSRFSREEFPTLQAAGDQDKAAKERESAEQSSGPGPSLR
PQNSTTWRDGGGRGPDELEGPDSKLHHGHDPRGGLQPSGPPQFPPYRGMMPPFMYPPYLPFPPPYGPQGPYRYPTPDGPSRFPRVAGPRGSGPPMRLVEP
VGRPSILKEDNLKEFDQLDQENDDGWAGAHEEVDYTEKLKFSDEEDGRDSDEEGAEGHRDSQSASGEERPPEADGKKGNSPNSEPPTPKTAWAETSRPPE
TEPGPPAPKPPLPPPHRGPAGNWGPPGDYPDRGGPPCKPPAPEDEDEAWRQRRKQSSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAP
DKRLKAEPAAPPAAPSTPAPPPAVPKELPAPPAPPPASAPTPEKEPEEPAQAPPAQSTPTPGVAAAPTLVSGGGSTSSTSSGSFEASPVEPQLPSKEGPE
PPEEVPPPTTPPVPKVEPKGDGIGPTRQPPSQGLGYPKYQKSLPPRFQRQQQEQLLKQQQQHQWQQHQQGSAPPTPVPPSPPQPVTLGAVPAPQAPPPPP
KALYPGALGRPPPMPPMNFDPRWMMIPPYVDPRLLQGRPPLDFYPPGVHPSGLVPRERSDSGGSSSEPFDRHAPAMLRERGTPPVDPKLAWVGDVFTATP
AEPRPLTSPLRQAADEDDKGMRSETPPVPPPPPYLASYPGFPENGAPGPPISRFPLEEPGPRPLPWPPGSDEVAKIQTPPPKKEPPKEETAQLTGPEAGR
KPARGVGSGGQGPPPPRRESRTETRWGPRPGSSRRGIPPEEPGAPPRRAGPIKKPPPPTKVEELPPKPLEQGDETPKPPKPDPLKITKGKLGGPKETPPN
GNLSPAPRLRRDYSYERVGPTSCRGRGRGEYFARGRGFRGTYGGRGRGARSREFRSYREFRGDDGRGGGTGGPNHPPAPRGRTASETRSEGSEYEEIPKR
RRQRGSETGSETHESDLAPSDKEAPTPKEGTLTQVPLAPPPPGAPPSPAPARFTARGGRVFTPRGVPSRRGRGGGRPPPQVCPGWSPPAKSLAPKKPPTG
PLPPSKEPLKEKLIPGPLSPVARGGSNGGSNVGMEDGERPRRRRHGRAQQQDKPPRFRRLKQERENAARGSEGKPSLTLPASAPGPEEALTTVTVAPAPR
RAAAKSPDLSNQNSDQANEEWETASESSDFTSERRGDKEAPPPVLLTPKAVGTPGGGGGGAVPGISAMSRGDLSQRAKDLSKRSFSSQRPGMERQNRRPG
PGGKAGSSGSSSGGGGGGPGGRTGPGRGDKRSWPSPKNRSRPPEERPPGLPLPPPPPSSSAVFRLDQVIHSNPAGIQQALAQLSSRQGSVTAPGGHPRHK
PGPPQAPQGPSPRPPTRYEPQRVNSGLSSDPHFEEPGPMVRGVGGTPRDSAGVSPFPPKRRERPPRKPELLQEESLPPPHSSGFLGSKPEGPGPQAESRD
TGTEALTPHIWNRLHTATSRKSYRPSSMEPWMEPLSPFEDVAGTEMSQSDSGVDLSGDSQVSSGPCSQRSSPDGGLKGAAEGPPKRPGGSSPLNAVPCEG
PPGSEPPRRPPPAPHDGDRKELPREQPLPPGPIGTERSQRTDRGTEPGPIRPSHRPGPPVQFGTSDKDSDLRLVVGDSLKAEKELTASVTEAIPVSRDWE
LLPSAAASAEPQSKNLDSGHCVPEPSSSGQRLYPEVFYGSAGPSSSQISGGAMDSQLHPNSGGFRPGTPSLHPYRSQPLYLPPGPAPPSALLSGVALKGQ
FLDFSTMQATELGKLPAGGVLYPPPSFLYSPAFCPSPLPDTSLLQVRQDLPSPSDFYSTPLQPGGQSGFLPSGAPAQQMLLPMVDSQLPVVNFGSLPPAP
PPAPPPLSLLPVGPALQPPSLAVRPPPAPATRVLPSPARPFPASLGRAELHPVELKPFQDYQKLSSNLGGPGSSRTPPTGRSFSGLNSRLKATPSTYSGV
FRTQRVDLYQQASPPDALRWIPKPWERTGPPPREGPSRRAEEPGSRGDKEPGLPPPR


SNP Information

Context             (SEQ ID NO:11369):
CCAGTCCTTTGCCTGACACATCGTTGCTTCAGGTACGCCAGGATCTGCCATCCCCTTCGGATTTTTATTCTACTCCTCTGCAGCCTGGTGGCCAAAGTGG
M
TTTCTCCCTTCAGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTC
Celera SNP ID:            hCV25623829
SNP Position Transcript:  6126
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(A,1|C,23)   total(A,1|C,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1968, (G,GGA)   (G,GGC)   



Context             (SEQ ID NO:11370):
AGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGAGGTGG
K
CGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCCT
Celera SNP ID:            hCV25623848
SNP Position Transcript:  858
SNP Source:               Applera
Population(Allele,Count): african american(G,35|T,1)   caucasian(G,25|T,1)   total(G,60|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 212, (G,GGG)   (G,GGT)   

SNP Source:               Applera
Population(Allele,Count): african american(G,33|T,1)   caucasian(G,27|T,1)   total(G,60|T,2)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 212, (G,GGG)   (G,GGT)   



Context             (SEQ ID NO:11371):
GCAGCAGGATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCC
R
CTCCTGGACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCA
Celera SNP ID:            hCV25623791
SNP Position Transcript:  4069
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,22)   total(A,1|G,41)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1283, (T,ACT)   (A,GCT)   



Context             (SEQ ID NO:11372):
ACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAGGC
R
GTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCGGG
Celera SNP ID:            hCV25623792
SNP Position Transcript:  4468
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,1|G,37)   total(A,1|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1416, (S,AGT)   (G,GGT)   



Context             (SEQ ID NO:11373):
AGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCA
R
CAGTGGCAGCAGCAGTGGAGGAGGCGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGT
Celera SNP ID:            hCV25623793
SNP Position Transcript:  4442
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,20)   caucasian(G,38)   total(A,2|G,58)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1407, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:11374):
ATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGC
S
CCAGCCCGCTTCACTGCCCGGGGTGGGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCC
Celera SNP ID:            hCV11917406
SNP Position Transcript:  3669
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1149, (A,GCC)   (A,GCG)      



Context             (SEQ ID NO:11375):
ACAAAGAGGCACCCCCACCAGTACTGCTGACACCCAAGGCTGTGGGAACTCCTGGGGGAGGTGGAGGTGGAGCCGTACCAGGTATTTCAGCCATGTCCCG
Y
GGAGATCTGAGCCAGAGAGCCAAGGATTTGAGTAAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCA
Celera SNP ID:            hCV25623794
SNP Position Transcript:  4332
SNP Source:               Applera
Population(Allele,Count): african american(C,19|T,1)   caucasian(C,22)   total(C,41|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1370, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11376):
GATAAACCGCCTCGTTTCCGGAGGCTGAAGCAGGAACGGGAGAATGCCGCAAGGGGGTCTGAGGGCAAGCCCTCCCTAACCCTTCCAGCCTCCGCTCCTG
S
ACCTGAGGAGGCCCTCACAACAGTCACAGTGGCCCCAGCACCTCGCCGGGCAGCTGCCAAGTCTCCTGATCTGTCAAACCAGAACTCAGACCAAGCCAAT
Celera SNP ID:            hCV11917408
SNP Position Transcript:  4076
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,21)   caucasian(C,1|G,21)   total(C,2|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1285, (A,GCA)   (G,GGA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1285, (A,GCA)   (G,GGA)      



Context             (SEQ ID NO:11377):
AGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCTGATGAGGAGGG
W
GCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCGCCCACTC
Celera SNP ID:            hCV3273990
SNP Position Transcript:  1284
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,3)   caucasian(A,34|T,4)   total(A,69|T,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 354, (G,GGA)   (G,GGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 354, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11378):
AGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGG
R
GCCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTC
Celera SNP ID:            hCV7514704
SNP Position Transcript:  2757
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 845, (G,GGA)   (G,GGG)      



Context             (SEQ ID NO:11379):
CCAAGAAGGAGCCCCCTAAGGAGGAGACTGCACAGCTGACGGGGCCAGAAGCAGGCCGAAAGCCTGCCCGCGGAGTCGGGAGTGGAGGCCAGGGCCCCCC
M
CCACCACGCAGAGAGAGTCGCACAGAGACCCGCTGGGGCCCTCGTCCAGGGAGCAGTCGTCGTGGAATCCCTCCAGAGGAGCCAGGGGCCCCACCCCGCC
Celera SNP ID:            hCV25623796
SNP Position Transcript:  2964
SNP Source:               Applera
Population(Allele,Count): african american(A,17|C,1)   caucasian(A,33|C,1)   total(A,50|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 914, (P,CCA)   (P,CCC)   



Context             (SEQ ID NO:11380):
CCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGCCGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGC
R
CTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTTGATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCC
Celera SNP ID:            hCV3273991
SNP Position Transcript:  1109
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,6)   total(G,6|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 296, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11381):
GGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTCCTCCAGTACCTCCCCCACCACCCTATCTGGCCAGTTATCCAGGCTTTCCTGAGAATGGA
R
CCCCTGGGCCCCCAATCTCTCGCTTTCCTCTGGAGGAACCAGGGCCCCGTCCACTCCCCTGGCCCCCAGGCAGTGATGAAGTGGCCAAGATACAAACTCC
Celera SNP ID:            hCV7514705
SNP Position Transcript:  2758
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 846, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11382):
CGGAGCCCAGCTCCTCAGGCCAGCGCCTGTATCCTGAGGTTTTCTATGGCAGTGCTGGGCCTTCCAGTTCTCAGATCTCTGGGGGAGCCATGGACTCTCA
R
TTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAG
Celera SNP ID:            hCV7514722
SNP Position Transcript:  5790
SNP Source:               Applera
Population(Allele,Count): african american(A,11|G,1)   caucasian(A,18|G,6)   total(A,29|G,7)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1856, (Q,CAA)   (Q,CAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1856, (Q,CAA)   (Q,CAG)      



Context             (SEQ ID NO:11383):
GGGGAGCCATGGACTCTCAATTACATCCAAACAGTGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCC
S
GGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGGGTAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGG
Celera SNP ID:            hCV7514723
SNP Position Transcript:  5871
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 1883, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11384):
CCTAGGAGACCACCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGC
R
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
Celera SNP ID:            hCV3273977
SNP Position Transcript:  5441
SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,21)   caucasian(A,18|G,22)   total(A,35|G,43)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1740, (H,CAT)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,13|G,19)   total(A,28|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1740, (H,CAT)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,2|G,3)      total(G,3|A,2)Gaucasian(A,108|G,196)   Ghinese(A,27|G,31)   Japanese(A,8|G,12)   African(G,48|A,50)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1740, (H,CAT)   (R,CGT)      1740, (R,CGT)   (H,CAT)      



Context             (SEQ ID NO:11385):
GACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGGGTGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGC
R
GCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCACCTCCTCATAGCTCTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGCCCTCAGGCA
Celera SNP ID:            hCV25623799
SNP Position Transcript:  4910
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,11)   caucasian(G,26)   total(A,1|G,37)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1563, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11386):
TACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGCCTTGGGAGCGGACAGGGC
Y
GCCACCTCGAGAAGGGCCCTCCCGACGGGCAGAGGAGCCTGGGTCCCGAGGGGACAAGGAGCCTGGGTTGCCCCCACCCCGCTGAGGGAGTTCCTCTTGC
Celera SNP ID:            hCV7514724
SNP Position Transcript:  6611
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,37|T,3)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2130, (P,CCG)   (L,CTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2130, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11387):
GCCCCCACCCCGCTGAGGGAGTTCCTCTTGCCCCCTACCCCCGGGGCTTGTATATAGATTATAAATATATAAGGGGGAAAGGGGTGGGCGGGGAGGGGTT
S
TGGGGCTGGGGCCTCACTTCCCCTCCTCCCCCTTCCCCTGGTCCCCTGTCCCTGGGGCTGTTTGTTAAAAAAGAGTAATAAAAGGATTTA
Celera SNP ID:            hCV902448
SNP Position Transcript:  6781
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1347, None   



Context             (SEQ ID NO:11388):
CCACCTGCTGCCCCTTCTACCCCAGCTCCACCACCTGCAGTCCCTAAAGAACTCCCTGCACCTCCAGCTCCACCTCCAGCATCAGCCCCAACACCAGAGA
M
AGAACCTGAAGAGCCAGCACAGGCCCCTCCTGCCCAATCTACTCCTACTCCAGGTGTGGCTGCGGCTCCCACTCTGGTGAGTGGTGGTGGCAGTACCAGT
Celera SNP ID:            hCV7514692
SNP Position Transcript:  1853
SNP Source:               Applera
Population(Allele,Count): african american(A,22|C,8)   caucasian(A,30|C,8)   total(A,52|C,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 544, (K,AAA)   (T,ACA)   

SNP Source:               Applera
Population(Allele,Count): african american(A,23|C,9)   caucasian(A,20|C,6)   total(A,43|C,15)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 544, (K,AAA)   (T,ACA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 544, (T,ACA)   (K,AAA)      544, (K,AAA)   (T,ACA)      



Context             (SEQ ID NO:11389):
AAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAG
W
CGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGCCGGAATCGCAGCCACTGCCGGCTTCACAG
Celera SNP ID:            hCV29231527
SNP Position Transcript:  467
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 82, (D,GAC)   (V,GTC)      



Context             (SEQ ID NO:11390):
GCAGCACCAGTGGCAGCAGCATCAACAGGGCTCTGCCCCTCCTACCCCAGTGCCCCCATCACCACCACAGCCTGTGACCCTGGGGGCTGTGCCAGCTCCA
M
AGGCTCCACCCCCGCCCCCCAAGGCCCTGTACCCAGGTGCTCTGGGCCGGCCCCCACCCATGCCCCCAATGAACTTTGATCCCCGATGGATGATGATTCC
Celera SNP ID:            hCV26778761
SNP Position Transcript:  2302
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 694, (K,AAG)   (Q,CAG)      



Context             (SEQ ID NO:11391):
CCCCGCTAGCTTGGGGCGAGCAGAGCTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCA
Y
GGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCT
Celera SNP ID:            hCV25623831
SNP Position Transcript:  6445
SNP Source:               Applera
Population(Allele,Count): african american(C,30)   caucasian(C,32|T,2)   total(C,62|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2075, (R,CGG)   (W,TGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,32|T,2)   total(C,68|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2075, (R,CGG)   (W,TGG)   



Context             (SEQ ID NO:11392):
CGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCTTCTCTGGCCTCAATTCCCGTCT
S
AAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGATGCCCTGCGCTGGATACCTAAGC
Celera SNP ID:            hCV25623832
SNP Position Transcript:  6492
SNP Source:               Applera
Population(Allele,Count): african american(C,35|G,1)   caucasian(C,28)   total(C,63|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 2090, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 2090, (L,CTC)   (L,CTG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,29|G,1)   caucasian(C,32)   total(C,61|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 2090, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11393):
AAACGGAGCTTCTCAAGTCAGCGGCCAGGCATGGAACGGCAGAATCGGCGCCCTGGCCCAGGGGGCAAGGCTGGCAGCAGTGGCAGCAGCAGTGGAGGAG
S
CGGTGGGGGTCCTGGAGGAAGGACCGGGCCAGGACGAGGCGACAAGAGGAGCTGGCCCTCTCCCAAGAACCGAAGTCGTCCTCCAGAGGAGCGTCCCCCG
Celera SNP ID:            hCV26778769
SNP Position Transcript:  4466
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1415, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11394):
AGGGGCTCCTGCCCAGCAGATGCTTCTACCCATGGTAGACTCACAGCTGCCTGTGGTGAACTTTGGCTCCCTGCCGCCAGCACCACCTCCTGCCCCACCT
Y
CCCTTTCTCTGTTACCTGTGGGCCCTGCTCTGCAGCCCCCCAGCCTGGCTGTGCGGCCCCCACCTGCTCCTGCTACTCGGGTGCTGCCTTCACCTGCCAG
Celera SNP ID:            hCV2451889
SNP Position Transcript:  6238
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,14)   caucasian(C,26|T,14)   total(C,50|T,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2006, (P,CCC)   (S,TCC)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,3)      total(C,3|T,3) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2006, (P,CCC)   (S,TCC)      



Context             (SEQ ID NO:11395):
TCCTAAGACGGCCTGGGCAGAAACCTCTCGGCCTCCAGAGACAGAGCCGGGACCTCCTGCCCCAAAGCCTCCCCTACCCCCACCTCACCGGGGCCCCGCC
R
GGAACTGGGGCCCCCCTGGGGACTACCCAGATCGTGGGGGTCCTCCCTGCAAGCCCCCAGCACCTGAAGATGAGGATGAGGCATGGCGGCAGCGACGAAA
Celera SNP ID:            hCV25623781
SNP Position Transcript:  1483
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,34)   total(A,1|G,67)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 421, (R,AGG)   (G,GGG)   



Context             (SEQ ID NO:11396):
CAGACAGTGGGGGCTCAAGCTCAGAGCCATTTGACCGTCATGCACCTGCTATGTTACGGGAACGGGGCACTCCACCGGTGGATCCAAAGTTGGCCTGGGT
R
GGAGATGTCTTCACCGCCACACCCGCTGAACCCCGCCCACTTACCTCACCTCTGCGCCAGGCTGCGGATGAGGATGACAAGGGGATGAGGAGCGAGACTC
Celera SNP ID:            hCV25623787
SNP Position Transcript:  2598
SNP Source:               Applera
Population(Allele,Count): african american(A,22|G,6)   caucasian(A,24|G,6)   total(A,46|G,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 792, (V,GTA)   (V,GTG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1347, 792, (V,GTA)   (V,GTG)      



Context             (SEQ ID NO:11397):
GAAAGAGTGGGTCCTACCTCTTGCCGGGGTCGGGGCCGAGGCGAGTATTTTGCCAGAGGGAGGGGTTTTCGGGGGACCTATGGGGGACGAGGGCGGGGAG
S
CCGAAGCCGGGAATTCCGCAGTTACCGAGAGTTTCGAGGAGATGATGGGCGTGGAGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGC
Celera SNP ID:            hCV7514713
SNP Position Transcript:  3368
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1049, (A,GCC)   (G,GGC)      



Context             (SEQ ID NO:11398):
AGGTGGGACAGGGGGACCAAACCACCCTCCTGCTCCCCGAGGCCGCACTGCCAGCGAGACACGGAGCGAGGGTTCAGAGTATGAGGAAATCCCCAAGCGG
Y
GCCGGCAGCGGGGCTCAGAAACAGGCAGCGAGACCCATGAGAGTGATCTGGCTCCTTCAGACAAGGAGGCTCCCACACCCAAGGAGGGAACACTCACCCA
Celera SNP ID:            hCV7514714
SNP Position Transcript:  3523
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1101, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:11399):
TCCCACACCCAAGGAGGGAACACTCACCCAGGTCCCTCTCGCTCCCCCACCACCAGGAGCCCCACCTTCACCAGCCCCAGCCCGCTTCACTGCCCGGGGT
S
GGCGAGTCTTCACTCCCAGAGGGGTGCCATCTCGCCGGGGCCGAGGAGGAGGGAGGCCCCCTCCTCAAGTTTGCCCAGGCTGGAGCCCTCCAGCCAAGTC
Celera SNP ID:            hCV7514715
SNP Position Transcript:  3694
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1158, (R,CGG)   (G,GGG)      



Context             (SEQ ID NO:11400):
TCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCGGGGCCAATGGTGAGAGGGGTGG
R
TGGGACTCCTCGGGACTCTGCCGGGGTTAGTCCCTTTCCCCCTAAACGTCGGGAGCGGCCTCCCAGAAAACCAGAGCTGCTACAGGAGGAATCTTTGCCA
Celera SNP ID:            hCV25623800
SNP Position Transcript:  4853
SNP Source:               Applera
Population(Allele,Count): african american(G,10)   caucasian(A,2|G,16)   total(A,2|G,26)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1544, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:11401):
CACAGCAACCCTGCTGGCATCCAACAGGCTCTGGCCCAGCTTAGTAGCCGTCAAGGGAGTGTAACTGCACCAGGGGGTCATCCAAGGCACAAGCCTGGGC
N
TCCCCAAGCCCCTCAGGGCCCCTCTCCTAGGCCCCCAACCCGATACGAGCCCCAGAGGGTCAACAGCGGCCTCAGTTCTGACCCCCACTTTGAGGAGCCG
Celera SNP ID:            hCV15963285
SNP Position Transcript:  4730
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,12)   caucasian(C,26|T,8)   total(C,52|T,20)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1503, (P,CCT)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1503, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11402):
GATACGTATAAGGGCAAGTCCTTAGAGATCCAGAAACCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGC
S
ACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAAGGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAG
Celera SNP ID:            hCV7514683
SNP Position Transcript:  392
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 57, (P,CCA)   (R,CGA)      



Context             (SEQ ID NO:11403):
ATTGGCACAGAACGATCACAGCGTACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTG
R
CAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGG
Celera SNP ID:            hCV25623803
SNP Position Transcript:  5519
SNP Source:               Applera
Population(Allele,Count): african american(A,34)   caucasian(A,35|G,1)   total(A,69|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1766, (D,GAC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,39|G,1)   total(A,77|G,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1766, (D,GAC)   (G,GGC)   



Context             (SEQ ID NO:11404):
TACAGACCGAGGCACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTA
R
TGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGAGGCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGC
Celera SNP ID:            hCV25623804
SNP Position Transcript:  5542
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,31)   caucasian(A,1|G,39)   total(A,2|G,70)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1774, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,36)   caucasian(A,1|G,39)   total(A,3|G,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1774, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11405):
GACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCGC
Y
GGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTA
Celera SNP ID:            hCV15874455
SNP Position Transcript:  539
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,118|C,1385)   total(C,1385|T,118) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 106, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11406):
CCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGACAGCTTGAAAGCAGAGAAGGAGCTAACAGCATCAGTCACTGA
R
GCCATTCCTGTATCACGAGACTGGGAGCTGCTTCCCAGTGCTGCTGCCTCTGCTGAGCCACAATCCAAGAACCTGGATTCTGGGCACTGTGTCCCGGAGC
Celera SNP ID:            hCV25623805
SNP Position Transcript:  5595
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,40)   total(A,2|G,72)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1347, None



Context             (SEQ ID NO:11407):
TGGAGGCTTCCGCCCTGGGACACCCTCACTGCACCCTTACAGATCACAGCCCCTATACCTACCCCCCGGCCCAGCCCCTCCCTCAGCACTGCTCTCTGGG
K
TAGCTCTCAAGGGCCAGTTTCTGGATTTCTCCACAATGCAAGCTACAGAGCTGGGGAAGTTGCCGGCTGGAGGAGTTCTCTACCCTCCACCTTCCTTCCT
Celera SNP ID:            hCV25623806
SNP Position Transcript:  5905
SNP Source:               Applera
Population(Allele,Count): african american(G,23|T,1)   caucasian(G,28)   total(G,51|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1895, (V,GTA)   (L,TTA)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1895, (V,GTA)   (L,TTA)      



Context             (SEQ ID NO:11408):
CTGCATCCAGTGGAACTAAAGCCGTTCCAGGATTATCAAAAACTGAGCAGCAACCTTGGGGGACCTGGATCATCACGGACTCCCCCAACTGGAAGGTCCT
Y
CTCTGGCCTCAATTCCCGTCTCAAGGCCACGCCTTCCACCTACAGTGGAGTCTTCCGCACCCAGCGCGTCGACCTTTACCAGCAGGCCTCCCCACCAGAT
Celera SNP ID:            hCV25623840
SNP Position Transcript:  6470
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(C,1|T,39)   total(C,1|T,77)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 2083, (S,TCC)   (F,TTC)   



Context             (SEQ ID NO:11409):
CCACCTGCCCCCCACGATGGGGACAGAAAGGAGCTGCCCCGGGAGCAGCCTCTGCCCCCTGGCCCCATTGGCACAGAACGATCACAGCGTACAGACCGAG
S
CACAGAGCCTGGCCCCATTCGGCCATCCCATCGACCTGGTCCCCCAGTCCAGTTTGGCACTAGTGACAAGGACTCAGACTTACGCCTAGTGGTAGGAGAC
Celera SNP ID:            hCV26778774
SNP Position Transcript:  5453
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1347, 1744, (A,GCC)   (G,GGC)      



Gene Number:                 254
Celera Gene:                 hCG40340 - 146000220073481
Celera Transcript:           hCT1959859 - 146000220073506
Public Transcript Accession: NM_005996
Celera Protein:              hCP1768482 - 197000069424556
Public Protein Accession:    NP_005987
Gene Symbol:                 TBX3
Protein Name:                T-box 3 (ulnar mammary syndrome);TBX3-ISO;UMS;XHL
Celera Genomic Axis:         GA_x5YUV32W46Y(62359384..62373314)
Chromosome:                  Chr12
OMIM number:                 601621
OMIM Information:            T-BOX 3;TBX3


Transcript Sequence (SEQ ID NO:651):
TCTAGAGCCGCCGAGCAGACGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTC
TCTCTCTCTCTCTCTCTCTYTCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTT
AGGAAGCGAATTCGCTCACGTTTTAGGACAAGGAAGAGAGAGAGGCACGGGAGAAGAGCCCAGCAAGATTTGGATTGAAACCGAGACACCCTCCGGAGGC
TCGGAGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTT
TTTTTAAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGAC
AGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACCKAGGGGCTGGAGAGAGATTCCT
GGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGG
AGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCRACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCYCC
AAAAGACACTTYCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGA
ATTATGTGCTGCTGTTAAACAACAACAAAAAAACAACAAAACACAGCAGCTGCGGACTTGTCCCCGGCTGGAGCCCAGCGCCCCGCCTGGAGTGGATGAG
CCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGG
TGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGA
CCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCA
TTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAATMCATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTC
GGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGT
CACTTTCCACAAAYTGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGT
TTTGGTACTCAGACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTC
GGACATACTTGTTCCCCGAAACTGAATTCATYGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAWAAATAGACAACAACCCTTTTGCAAAAGG
TTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACC
TCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTAT
GTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCAYGGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGA
GCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTCKCCCGACTCA
CGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCAAGGTGGAAG
AGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCCGGCGGCCGCCTCCTCTGCGGCAGCCTCCAGCTCGGTGCACCGCCACCCCTTCCTCAATCTGAACACC
ATGCGCCCGCGGCTGCGCTACAGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTGCTCACCACCCCCTGGCCGCCAGCCCGGCCTCGGT
GGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAARGAGGCGGCC
ACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGYGTCCCCGTAGACCCGTCCCAGACACGTCT
TTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGCGTTAGCCCTTCCTTTTGCAGTTGCGTCTG
GGAAGGGGCCCCGGACTCCCTCGAGAGAATGTGCTAGAGACAGCCCCTGTCTTCTTGGCGTGGTTTATATGTCCGGGATCTGGATCAGATTCTGGGGGCT
CAGAAACGTCGGTTGCATTGAGCTACTGGGGGTAGGAGTTCCAACATTTATGTCCAGAGCAACTTCCAGCAAGGCTGGTCTGGGTCTCTGCCCACCAGGC
GGGGAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAA
ATCSGGACAAGTGAACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTT
GTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATSTGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGGTCT
CTTCTTGCATGTCCACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTG
CCCTCAAATCAGTGACCCARGGGAGGGRGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTC
ATGTCGTTCTTTGACAGTTCTTTCTCTTTCCTGTATATGCAATAACAAGGTTTTAAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTA
ATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAACYTTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATTGCA
ACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACAGAATTGCTGTTAACACTAGAAAACACACTTCCTGCACCAACACCA
ATACCCTTTCAAAAGAGTTGTCTGCAACATTTTTGTTTTCTTTTTTAATGTCCAAAAGTGGGGGAAAGTGCTATTTCCTATTTTCACCAAAATTGGGGAA
GGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGGRGGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTT
TTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTGTCAGTATCGGTGTTTTGAATTGGTGCCTGCCTAT
AGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATGRGTTCTTTGG
TTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTGG

Protein Sequence    (SEQ ID NO:1348):
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVE
DDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSK
VVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTS
EEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFRRPPPLRQPPARCTATPSSI


SNP Information

Context             (SEQ ID NO:11410):
AGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTTTTTT
T
AAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGACAGATA
Celera SNP ID:            hCV11167011
SNP Position Transcript:  405
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,3)   total(T,3|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11411):
AAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTT
Y
CCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGAATTATGTGCTGC
Celera SNP ID:            hCV16174320
SNP Position Transcript:  812
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,29|T,11)   total(C,63|T,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,564|C,725)   total(C,725|T,564) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11412):
AATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCA
R
GGGAGGGGGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTC
Celera SNP ID:            hCV1412080
SNP Position Transcript:  3520
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11413):
CGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTC
K
CCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCA
Celera SNP ID:            hCV25624203
SNP Position Transcript:  2291
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   total(G,25|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1348, 432, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11414):
TGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAA
Y
TGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGTTTTGGTACTCAGAC
Celera SNP ID:            hCV25624211
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1348, 207, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11415):
GAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATC
S
GGACAAGTGAACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTT
Celera SNP ID:            hCV1412081
SNP Position Transcript:  3204
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11416):
GCCTGCCTATAGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATG
R
GTTCTTTGGTTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTGG
Celera SNP ID:            hCV8185658
SNP Position Transcript:  4291
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11417):
ACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCAT
Y
GCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAA
Celera SNP ID:            hCV25624205
SNP Position Transcript:  1832
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1348, 279, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:11418):
AAGTGCTATTTCCTATTTTCACCAAAATTGGGGAAGGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGG
R
GGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTTTTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTG
Celera SNP ID:            hCV1412077
SNP Position Transcript:  4066
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11419):
CTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCA
Y
GGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTG
Celera SNP ID:            hCV7525069
SNP Position Transcript:  2150
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1348, 385, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11420):
AAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTAATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAAC
Y
TTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATTGCAACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACA
Celera SNP ID:            hCV1412078
SNP Position Transcript:  3755
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,6)   total(C,1|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11421):
TGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCAAGGGAGGG
R
GGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTCTTTCTCTT
Celera SNP ID:            hCV1412079
SNP Position Transcript:  3528
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,7)   total(G,7|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11422):
TTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAAT
M
CATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAG
Celera SNP ID:            hCV28016618
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1348, 149, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:11423):
TTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAAT
S
TGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGGTCTCTTCTTGCATGTCCACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGC
Celera SNP ID:            hCV27492620
SNP Position Transcript:  3352
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,84|C,1379)   total(G,84|C,1379) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11424):
CGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTCTCTCTCTCTCTCTCTCTCT
Y
TCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTTAGGAAGCGAATTCGCTCACG
Celera SNP ID:            hCV26387339
SNP Position Transcript:  120
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|-,6)   total(C,1|-,6|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11425):
CGAGAAAGAGGGAGAGGAAGACAGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACC
K
AGGGGCTGGAGAGAGATTCCTGGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCG
Celera SNP ID:            hCV27857681
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,34)   total(G,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None



Context             (SEQ ID NO:11426):
CCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCG
Y
GTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGC
Celera SNP ID:            hCV11493955
SNP Position Transcript:  2771
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None   



Context             (SEQ ID NO:11427):
AGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTC
Y
CCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTT
Celera SNP ID:            hCV25624196
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,8|T,30)   total(C,12|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None



Context             (SEQ ID NO:11428):
TCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGC
R
ACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATT
Celera SNP ID:            hCV25624197
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1348, None



Context             (SEQ ID NO:11429):
CATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTA
W
AAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGA
Celera SNP ID:            hCV27860645
SNP Position Transcript:  1872
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1348, 293, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:11430):
CGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAA
R
GAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGCGTCCCCGTAGACCCGTCCCA
Celera SNP ID:            hCV25624198
SNP Position Transcript:  2691
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32)   total(A,63|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36)   total(A,69|G,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1348, None



Gene Number:                 254
Celera Gene:                 hCG40340 - 146000220073481
Celera Transcript:           hCT31596 - 146000220073482
Public Transcript Accession: NM_005996
Celera Protein:              hCP50088 - 197000069424554
Public Protein Accession:    NP_005987
Gene Symbol:                 TBX3
Protein Name:                T-box 3 (ulnar mammary syndrome);TBX3-ISO;UMS;XHL
Celera Genomic Axis:         GA_x5YUV32W46Y(62359385..62373314)
Chromosome:                  Chr12
OMIM number:                 601621
OMIM Information:            T-BOX 3;TBX3


Transcript Sequence (SEQ ID NO:652):
TCTAGAGCCGCCGAGCAGACGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTC
TCTCTCTCTCTCTCTCTCTYTCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTT
AGGAAGCGAATTCGCTCACGTTTTAGGACAAGGAAGAGAGAGAGGCACGGGAGAAGAGCCCAGCAAGATTTGGATTGAAACCGAGACACCCTCCGGAGGC
TCGGAGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTT
TTTTTAAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGAC
AGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACCKAGGGGCTGGAGAGAGATTCCT
GGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGG
AGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCRACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCYCC
AAAAGACACTTYCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGA
ATTATGTGCTGCTGTTAAACAACAACAAAAAAACAACAAAACACAGCAGCTGCGGACTTGTCCCCGGCTGGAGCCCAGCGCCCCGCCTGGAGTGGATGAG
CCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGG
TGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGA
CCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCA
TTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAATMCATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTC
GGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGT
CACTTTCCACAAAYTGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTA
AGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATYGCTGTGACTGCATACCAGAATGATAAGA
TAACCCAGTTAWAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCAT
GAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACCTCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCA
GCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCAYGGCCCCGAGG
CCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCC
CCGGGACAGCGGGCGGCTGGACAAAGCGTCKCCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGG
AGCCCGGTTCGCGAGGGCACAGCGCCGGCCAAGGTGGAAGAGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCGCGCCGCTCACGGTGCAGACGGACGCGG
CCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGCCTCGGCTTCGCCCCGGGCCTGGCGGGCCAACAGTTCTTCAACGGGCACCCGCTCTTCCTGCACCC
CAGCCAGTTTGCCATGGGGGGCGCCTTCTCCAGCATGGCGGCCGCTGGCATGGGTCCCCTCCTGGCCACGGTTTCTGGGGCCTCCACCGGTGTCTCGGGC
CTGGATTCCACGGCCATGGCCTCTGCCGCTGCGGCGCAGGGACTGTCCGGGGCGTCCGCGGCCACCCTGCCCTTCCACCTCCAGCAGCACGTCCTGGCCT
CTCAGGGCCTGGCCATGTCCCCTTTCGGAAGCCTGTTCCCTTACCCCTACACGTACATGGCCGCAGCGGCGGCCGCCTCCTCTGCGGCAGCCTCCAGCTC
GGTGCACCGCCACCCCTTCCTCAATCTGAACACCATGCGCCCGCGGCTGCGCTACAGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTG
CTCACCACCGCCCTGCCCTCCATGGCGGCGGCCGCGGGGCCCCTGGACGGCAAAGTCGCCGCCCTGGCCGCCAGCCCGGCCTCGGTGGCAGTGGACTCGG
GCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAARGAGGCGGCCACCAGCGAACTGCA
GAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGYGTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCC
AGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGCGTTAGCCCTTCCTTTTGCAGTTGCGTCTGGGAAGGGGCCCCGG
ACTCCCTCGAGAGAATGTGCTAGAGACAGCCCCTGTCTTCTTGGCGTGGTTTATATGTCCGGGATCTGGATCAGATTCTGGGGGCTCAGAAACGTCGGTT
GCATTGAGCTACTGGGGGTAGGAGTTCCAACATTTATGTCCAGAGCAACTTCCAGCAAGGCTGGTCTGGGTCTCTGCCCACCAGGCGGGGAGGTGTTCAA
AGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATCSGGACAAGTGA
ACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTTGGGGAGGGAA
GTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATSTGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGGTCTCTTCTTGCATGTCC
ACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTG
ACCCARGGGAGGGRGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGA
CAGTTCTTTCTCTTTCCTGTATATGCAATAACAAGGTTTTAAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTAATTATTTGATAACT
CTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAACYTTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATTGCAACTGTCAGGTTTTG
TGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACAGAATTGCTGTTAACACTAGAAAACACACTTCCTGCACCAACACCAATACCCTTTCAAAA
GAGTTGTCTGCAACATTTTTGTTTTCTTTTTTAATGTCCAAAAGTGGGGGAAAGTGCTATTTCCTATTTTCACCAAAATTGGGGAAGGAGTGCCACTTTC
CAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGGRGGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTTTTCTTTTGTTATTT
GTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTGTCAGTATCGGTGTTTTGAATTGGTGCCTGCCTATAGAGATATATTCAC
AGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATGRGTTCTTTGGTTTTCTGTATTTTT
CCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTG

Protein Sequence    (SEQ ID NO:1349):
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVE
DDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSK
VVTFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQ
SMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAE
RPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFL
HPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAAS
SSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSE
LQSIQRLVSGLEAKPDRSRSASP


SNP Information

Context             (SEQ ID NO:11431):
AGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTTTTTT
T
AAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGACAGATA
Celera SNP ID:            hCV11167011
SNP Position Transcript:  405
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,3)   total(T,3|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11432):
AAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTT
Y
CCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGAATTATGTGCTGC
Celera SNP ID:            hCV16174320
SNP Position Transcript:  812
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,29|T,11)   total(C,63|T,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,564|C,725)   total(C,725|T,564) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11433):
AATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCA
R
GGGAGGGGGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTC
Celera SNP ID:            hCV1412080
SNP Position Transcript:  3906
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11434):
CGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTC
K
CCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCA
Celera SNP ID:            hCV25624203
SNP Position Transcript:  2231
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   total(G,25|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 412, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11435):
TGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAA
Y
TGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACAT
Celera SNP ID:            hCV25624211
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 207, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11436):
GAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATC
S
GGACAAGTGAACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTT
Celera SNP ID:            hCV1412081
SNP Position Transcript:  3590
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11437):
GCCTGCCTATAGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATG
R
GTTCTTTGGTTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTG
Celera SNP ID:            hCV8185658
SNP Position Transcript:  4677
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11438):
ACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCAT
Y
GCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAA
Celera SNP ID:            hCV25624205
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 259, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:11439):
AAGTGCTATTTCCTATTTTCACCAAAATTGGGGAAGGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGG
R
GGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTTTTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTG
Celera SNP ID:            hCV1412077
SNP Position Transcript:  4452
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11440):
CTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCA
Y
GGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTG
Celera SNP ID:            hCV7525069
SNP Position Transcript:  2090
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 365, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11441):
AAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTAATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAAC
Y
TTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATTGCAACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACA
Celera SNP ID:            hCV1412078
SNP Position Transcript:  4141
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,6)   total(C,1|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11442):
TGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCAAGGGAGGG
R
GGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTCTTTCTCTT
Celera SNP ID:            hCV1412079
SNP Position Transcript:  3914
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,7)   total(G,7|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11443):
TTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAAT
M
CATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAG
Celera SNP ID:            hCV28016618
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1349, 149, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:11444):
TTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAAT
S
TGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGGTCTCTTCTTGCATGTCCACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGC
Celera SNP ID:            hCV27492620
SNP Position Transcript:  3738
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,84|C,1379)   total(G,84|C,1379) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11445):
CGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTCTCTCTCTCTCTCTCTCTCT
Y
TCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTTAGGAAGCGAATTCGCTCACG
Celera SNP ID:            hCV26387339
SNP Position Transcript:  120
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|-,6)   total(C,1|-,6|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None   



Context             (SEQ ID NO:11446):
CGAGAAAGAGGGAGAGGAAGACAGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACC
K
AGGGGCTGGAGAGAGATTCCTGGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCG
Celera SNP ID:            hCV27857681
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,34)   total(G,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None



Context             (SEQ ID NO:11447):
CCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCG
Y
GTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGC
Celera SNP ID:            hCV11493955
SNP Position Transcript:  3157
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1349, 721, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:11448):
AGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTC
Y
CCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTT
Celera SNP ID:            hCV25624196
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,8|T,30)   total(C,12|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None



Context             (SEQ ID NO:11449):
TCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGC
R
ACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATT
Celera SNP ID:            hCV25624197
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1349, None



Context             (SEQ ID NO:11450):
CGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAA
R
GAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGCGTCCCCGTAGACCCGTCCCA
Celera SNP ID:            hCV25624198
SNP Position Transcript:  3077
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32)   total(A,63|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 694, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36)   total(A,69|G,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1349, 694, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:11451):
CATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTA
W
AAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGA
Celera SNP ID:            hCV27860645
SNP Position Transcript:  1812
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1349, 273, (K,AAA)   (X,TAA)      



Gene Number:                 254
Celera Gene:                 hCG40340 - 146000220073481
Celera Transcript:           hCT2307501 - 146000220073532
Public Transcript Accession: NM_005996
Celera Protein:              hCP1881294 - 197000069424558
Public Protein Accession:    NP_005987
Gene Symbol:                 TBX3
Protein Name:                T-box 3 (ulnar mammary syndrome);TBX3-ISO;UMS;XHL
Celera Genomic Axis:         GA_x5YUV32W46Y(62360388..62373314)
Chromosome:                  Chr12
OMIM number:                 601621
OMIM Information:            T-BOX 3;TBX3


Transcript Sequence (SEQ ID NO:653):
TCTAGAGCCGCCGAGCAGACGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTC
TCTCTCTCTCTCTCTCTCTYTCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTT
AGGAAGCGAATTCGCTCACGTTTTAGGACAAGGAAGAGAGAGAGGCACGGGAGAAGAGCCCAGCAAGATTTGGATTGAAACCGAGACACCCTCCGGAGGC
TCGGAGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTT
TTTTTAAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGAC
AGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACCKAGGGGCTGGAGAGAGATTCCT
GGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGG
AGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCRACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCYCC
AAAAGACACTTYCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGA
ATTATGTGCTGCTGTTAAACAACAACAAAAAAACAACAAAACACAGCAGCTGCGGACTTGTCCCCGGCTGGAGCCCAGCGCCCCGCCTGGAGTGGATGAG
CCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGG
TGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGA
CCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCA
TTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAATMCATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTC
GGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGT
CACTTTCCACAAAYTGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTA
AGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATYGCTGTGACTGCATACCAGAATGATAAGA
TAACCCAGTTAWAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCAT
GAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACCTCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCA
GCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCAYGGCCCCGAGG
CCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCC
CCGGGACAGCGGGCGGCTGGACAAAGCGTCKCCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGG
AGCCCGGTTCGCGAGGGCACAGCGCCGGCCAAGGTGGAAGAGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCGCGCCGCTCACGGTGCAGACGGACGCGG
CCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGCCTCGGCTTCGCCCCGGGCCTGGCGGGCCAACAGTTCTTCAACGGGCACCCGCTCTTCCTGCACCC
CAGCCAGTTTGCCATGGGGGGCGCCTTCTCCAGCATGGCGGCCGCTGGCATGGGTCCCCTCCTGGCCACGGTTTCTGGGGCCTCCACCGGTGTCTCGGGC
CTGGATTCCACGGCCATGGCCTCTGCCGCTGCGGCGCAGGGACTGTCCGGGGCGTCCGCGGCCACCCTGCCCTTCCACCTCCAGCAGCACGTCCTGGCCT
CTCAGGGCCTGGCCATGTCCCCTTTCGGAAGCCTGTTCCCTTACCCCTACACGTACATGGCCGCAGCGGCGGCCGCCTCCTCTGCGGCAGCCTCCAGCTC
GGTGCACCGCCACCCCTTCCTCAATCTGAACACCATGCGCCCGCGGCTGCGCTACAGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTG
CTCACCACCGCCCTGCCCTCCATGGCGGCGGCCGCGGGGCCCCTGGACGGCAAAGTCGCCGCCCTGGCCGCCAGCCCGGCCTCGGTGGCAGTGGACTCGG
GCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAARGAGGCGGCCACCAGCGAACTGCA
GAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGYGTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCC
AGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGCGTTAGCCCTTCCTTTTGCAGTTGCGTCTGGGAAGGGGCCCCGG
ACTCCCTCGAGAGAATGTGCTAGAGACAGCCCCTGTCTTCTTGGCGTGGTTTATATGTCCGGGATCTGGATCAGATTCTGGGGGCTCAGAAACGTCGGTT
GCATTGAGCTACTGGGGGTAGGAGTTCCAACATTTATGTCCAGAGCAACTTCCAGCAAGGCTGGTCTGGGTCTCTGCCCACCAGGCGGGGAGGTGTTCAA
AGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATCSGGACAAGTGA
ACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATSTGTGTCTTTTTAATAT

Protein Sequence    (SEQ ID NO:1350):
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVE
DDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSK
VVTFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQ
SMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAE
RPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFL
HPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAAS
SSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSE
LQSIQRLVSGLEAKPDRSRSASP


SNP Information

Context             (SEQ ID NO:11452):
CTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCA
Y
GGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTG
Celera SNP ID:            hCV7525069
SNP Position Transcript:  2090
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 365, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11453):
TTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAAT
M
CATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAG
Celera SNP ID:            hCV28016618
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1350, 149, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:11454):
AGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTTTTTT
T
AAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGACAGATA
Celera SNP ID:            hCV11167011
SNP Position Transcript:  405
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,3)   total(T,3|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None   



Context             (SEQ ID NO:11455):
AAAAATCGGGACAAGTGAACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAAT
S
TGTGTCTTTTTAATAT
Celera SNP ID:            hCV27492620
SNP Position Transcript:  3683
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,84|C,1379)   total(G,84|C,1379) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1350, None   



Context             (SEQ ID NO:11456):
AAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTT
Y
CCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGAATTATGTGCTGC
Celera SNP ID:            hCV16174320
SNP Position Transcript:  812
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,29|T,11)   total(C,63|T,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,564|C,725)   total(C,725|T,564) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None   



Context             (SEQ ID NO:11457):
CGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTCTCTCTCTCTCTCTCTCTCT
Y
TCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTTAGGAAGCGAATTCGCTCACG
Celera SNP ID:            hCV26387339
SNP Position Transcript:  120
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|-,6)   total(C,1|-,6|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None   



Context             (SEQ ID NO:11458):
CGAGAAAGAGGGAGAGGAAGACAGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACC
K
AGGGGCTGGAGAGAGATTCCTGGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCG
Celera SNP ID:            hCV27857681
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,34)   total(G,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None



Context             (SEQ ID NO:11459):
CGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTC
K
CCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCA
Celera SNP ID:            hCV25624203
SNP Position Transcript:  2231
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   total(G,25|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 412, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11460):
TGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAA
Y
TGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACAT
Celera SNP ID:            hCV25624211
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 207, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11461):
CCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCG
Y
GTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGC
Celera SNP ID:            hCV11493955
SNP Position Transcript:  3157
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1350, 721, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:11462):
GAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATC
S
GGACAAGTGAACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATCTGTGTCT
Celera SNP ID:            hCV1412081
SNP Position Transcript:  3590
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1350, None   



Context             (SEQ ID NO:11463):
ACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCAT
Y
GCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAA
Celera SNP ID:            hCV25624205
SNP Position Transcript:  1772
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 259, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:11464):
AGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTC
Y
CCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTT
Celera SNP ID:            hCV25624196
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,8|T,30)   total(C,12|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None



Context             (SEQ ID NO:11465):
TCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGC
R
ACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATT
Celera SNP ID:            hCV25624197
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1350, None



Context             (SEQ ID NO:11466):
CGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAA
R
GAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGCGTCCCCGTAGACCCGTCCCA
Celera SNP ID:            hCV25624198
SNP Position Transcript:  3077
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32)   total(A,63|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 694, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36)   total(A,69|G,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1350, 694, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:11467):
CATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTA
W
AAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGA
Celera SNP ID:            hCV27860645
SNP Position Transcript:  1812
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1350, 273, (K,AAA)   (X,TAA)      



Gene Number:                 254
Celera Gene:                 hCG40340 - 146000220073481
Celera Transcript:           hCT1956047 - 146000220073493
Public Transcript Accession: NM_005996
Celera Protein:              hCP1765048 - 197000069424555
Public Protein Accession:    NP_005987
Gene Symbol:                 TBX3
Protein Name:                T-box 3 (ulnar mammary syndrome);TBX3-ISO;UMS;XHL
Celera Genomic Axis:         GA_x5YUV32W46Y(62359385..62373314)
Chromosome:                  Chr12
OMIM number:                 601621
OMIM Information:            T-BOX 3;TBX3


Transcript Sequence (SEQ ID NO:654):
TCTAGAGCCGCCGAGCAGACGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTC
TCTCTCTCTCTCTCTCTCTYTCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTT
AGGAAGCGAATTCGCTCACGTTTTAGGACAAGGAAGAGAGAGAGGCACGGGAGAAGAGCCCAGCAAGATTTGGATTGAAACCGAGACACCCTCCGGAGGC
TCGGAGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTT
TTTTTAAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGAC
AGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACCKAGGGGCTGGAGAGAGATTCCT
GGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGG
AGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCRACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCYCC
AAAAGACACTTYCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGA
ATTATGTGCTGCTGTTAAACAACAACAAAAAAACAACAAAACACAGCAGCTGCGGACTTGTCCCCGGCTGGAGCCCAGCGCCCCGCCTGGAGTGGATGAG
CCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGG
TGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGA
CCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCA
TTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAATMCATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTC
GGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGT
CACTTTCCACAAAYTGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGT
TTTGGTACTCAGACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTC
GGACATACTTGTTCCCCGAAACTGAATTCATYGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAWAAATAGACAACAACCCTTTTGCAAAAGG
TTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACC
TCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTAT
GTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCAYGGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGA
GCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTCKCCCGACTCA
CGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCAAGGTGGAAG
AGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCGCGCCGCTCACGGTGCAGACGGACGCGCCTCCAGCTCGGTGCACCGCCACCCCTTCCTCAATCTGAAC
ACCATGCGCCCGCGGCTGCGCTACAGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTGCTCACCACCCCCTGGCCGCCAGCCCGGCCTC
GGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAARGAGGCG
GCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGYGTCCCCGTAGACCCGTCCCAGACACG
TCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGCGTTAGCCCTTCCTTTTGCAGTTGCGT
CTGGGAAGGGGCCCCGGACTCCCTCGAGAGAATGTGCTAGAGACAGCCCCTGTCTTCTTGGCGTGGTTTATATGTCCGGGATCTGGATCAGATTCTGGGG
GCTCAGAAACGTCGGTTGCATTGAGCTACTGGGGGTAGGAGTTCCAACATTTATGTCCAGAGCAACTTCCAGCAAGGCTGGTCTGGGTCTCTGCCCACCA
GGCGGGGAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAA
AAAATCSGGACAAGTGAACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGC
TTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATSTGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGG
TCTCTTCTTGCATGTCCACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCT
TTGCCCTCAAATCAGTGACCCARGGGAGGGRGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGA
TTCATGTCGTTCTTTGACAGTTCTTTCTCTTTCCTGTATATGCAATAACAAGGTTTTAAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTAT
GTAATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAACYTTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATT
GCAACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACAGAATTGCTGTTAACACTAGAAAACACACTTCCTGCACCAACA
CCAATACCCTTTCAAAAGAGTTGTCTGCAACATTTTTGTTTTCTTTTTTAATGTCCAAAAGTGGGGGAAAGTGCTATTTCCTATTTTCACCAAAATTGGG
GAAGGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGGRGGAGGGCAGAGGCTGCGGTTTGACTTTTTAA
TTTTTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTGTCAGTATCGGTGTTTTGAATTGGTGCCTGCC
TATAGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATGRGTTCTT
TGGTTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTG

Protein Sequence    (SEQ ID NO:1351):
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVE
DDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSK
VVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTS
EEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAPPARCTATPSSI


SNP Information

Context             (SEQ ID NO:11468):
AGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTTTTTT
T
AAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGACAGATA
Celera SNP ID:            hCV11167011
SNP Position Transcript:  405
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,3)   total(T,3|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11469):
AAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTT
Y
CCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGAATTATGTGCTGC
Celera SNP ID:            hCV16174320
SNP Position Transcript:  812
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,29|T,11)   total(C,63|T,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,564|C,725)   total(C,725|T,564) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11470):
AATGTATTTGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCA
R
GGGAGGGGGGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTC
Celera SNP ID:            hCV1412080
SNP Position Transcript:  3523
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,3|A,6)      total(G,3|A,6) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11471):
CGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTC
K
CCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCA
Celera SNP ID:            hCV25624203
SNP Position Transcript:  2291
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   total(G,25|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1351, 432, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11472):
TGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAA
Y
TGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGTTTTGGTACTCAGAC
Celera SNP ID:            hCV25624211
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1351, 207, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11473):
GAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATC
S
GGACAAGTGAACACATTAACATGATTCTGTTTGTGCAGATTAAAAACTTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTT
Celera SNP ID:            hCV1412081
SNP Position Transcript:  3207
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11474):
GCCTGCCTATAGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATG
R
GTTCTTTGGTTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTCTTTG
Celera SNP ID:            hCV8185658
SNP Position Transcript:  4294
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,6)      total(G,1|A,6) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11475):
ACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCAT
Y
GCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAA
Celera SNP ID:            hCV25624205
SNP Position Transcript:  1832
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1351, 279, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:11476):
AAGTGCTATTTCCTATTTTCACCAAAATTGGGGAAGGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGG
R
GGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTTTTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTG
Celera SNP ID:            hCV1412077
SNP Position Transcript:  4069
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,5)      total(G,3|A,5) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11477):
CTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCA
Y
GGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTG
Celera SNP ID:            hCV7525069
SNP Position Transcript:  2150
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1351, 385, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11478):
AAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTAATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAAC
Y
TTAATTTATTGACATTGTACATAGCTCTGTGTAAATAGAATTGCAACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACA
Celera SNP ID:            hCV1412078
SNP Position Transcript:  3758
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,6)   total(C,1|T,6) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11479):
TGTGGTTTTTATTTTGAACGCTTGCTTTTAGAGAGAAAACAATATAGCCCCCTACCCTTTTCCCAATCCTTTGCCCTCAAATCAGTGACCCAAGGGAGGG
R
GGGATTTAAAGGGAAGGAGTGGGCAAAACACATAAAATGAATTTATTATATCTAAGCTCTGTAGCAGGATTCATGTCGTTCTTTGACAGTTCTTTCTCTT
Celera SNP ID:            hCV1412079
SNP Position Transcript:  3531
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,7)   total(G,7|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11480):
TTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAAT
M
CATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAG
Celera SNP ID:            hCV28016618
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1351, 149, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:11481):
TTTATAGGGACTTGCATTATCGGTTCTCAATAAATTACTGAGCAGCTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAAT
S
TGTGTCTTTTTAATATTCTTGTGATGTTTTCAGAGCCGCTGTAGGTCTCTTCTTGCATGTCCACAGTAATGTATTTGTGGTTTTTATTTTGAACGCTTGC
Celera SNP ID:            hCV27492620
SNP Position Transcript:  3355
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,84|C,1379)   total(G,84|C,1379) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11482):
CGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTCTCTCTCTCTCTCTCTCTCT
Y
TCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTTAGGAAGCGAATTCGCTCACG
Celera SNP ID:            hCV26387339
SNP Position Transcript:  120
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|-,6)   total(C,1|-,6|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11483):
CGAGAAAGAGGGAGAGGAAGACAGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACC
K
AGGGGCTGGAGAGAGATTCCTGGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCG
Celera SNP ID:            hCV27857681
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,34)   total(G,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None



Context             (SEQ ID NO:11484):
CCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCG
Y
GTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGC
Celera SNP ID:            hCV11493955
SNP Position Transcript:  2774
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None   



Context             (SEQ ID NO:11485):
AGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTC
Y
CCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTT
Celera SNP ID:            hCV25624196
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,8|T,30)   total(C,12|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None



Context             (SEQ ID NO:11486):
TCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGC
R
ACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATT
Celera SNP ID:            hCV25624197
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1351, None



Context             (SEQ ID NO:11487):
CATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTA
W
AAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGA
Celera SNP ID:            hCV27860645
SNP Position Transcript:  1872
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1351, 293, (K,AAA)   (X,TAA)      



Context             (SEQ ID NO:11488):
CGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAA
R
GAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGCGTCCCCGTAGACCCGTCCCA
Celera SNP ID:            hCV25624198
SNP Position Transcript:  2694
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32)   total(A,63|G,3)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36)   total(A,69|G,3)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1351, None



Gene Number:                 254
Celera Gene:                 hCG40340 - 146000220073481
Celera Transcript:           hCT2307500 - 146000220073519
Public Transcript Accession: NM_005996
Celera Protein:              hCP1881293 - 197000069424557
Public Protein Accession:    NP_005987
Gene Symbol:                 TBX3
Protein Name:                T-box 3 (ulnar mammary syndrome);TBX3-ISO;UMS;XHL
Celera Genomic Axis:         GA_x5YUV32W46Y(62360388..62373314)
Chromosome:                  Chr12
OMIM number:                 601621
OMIM Information:            T-BOX 3;TBX3


Transcript Sequence (SEQ ID NO:655):
TCTAGAGCCGCCGAGCAGACGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTC
TCTCTCTCTCTCTCTCTCTYTCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTT
AGGAAGCGAATTCGCTCACGTTTTAGGACAAGGAAGAGAGAGAGGCACGGGAGAAGAGCCCAGCAAGATTTGGATTGAAACCGAGACACCCTCCGGAGGC
TCGGAGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTT
TTTTTAAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGAC
AGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACCKAGGGGCTGGAGAGAGATTCCT
GGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGG
AGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCRACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCYCC
AAAAGACACTTYCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGA
ATTATGTGCTGCTGTTAAACAACAACAAAAAAACAACAAAACACAGCAGCTGCGGACTTGTCCCCGGCTGGAGCCCAGCGCCCCGCCTGGAGTGGATGAG
CCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGG
TGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGA
CCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCA
TTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAATMCATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTC
GGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGT
CACTTTCCACAAAYTGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGT
TTTGGTACTCAGACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTC
GGACATACTTGTTCCCCGAAACTGAATTCATYGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAWAAATAGACAACAACCCTTTTGCAAAAGG
TTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACC
TCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTAT
GTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCAYGGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGA
GCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTCKCCCGACTCA
CGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCAAGGTGGAAG
AGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCGCGCCGCTCACGGTGCAGACGGACGCGGCCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGCCTCGG
CTTCGCCCCGGGCCTGGCGGGCCAACAGTTCTTCAACGGGCACCCGCTCTTCCTGCACCCCAGCCAGTTTGCCATGGGGGGCGCCTTCTCCAGCATGGCG
GCCGCTGGCATGGGTCCCCTCCTGGCCACGGTTTCTGGGGCCTCCACCGGTGTCTCGGGCCTGGATTCCACGGCCATGGCCTCTGCCGCTGCGGCGCAGG
GACTGTCCGGGGCGTCCGCGGCCACCCTGCCCTTCCACCTCCAGCAGCACGTCCTGGCCTCTCAGGGCCTGGCCATGTCCCCTTTCGGAAGCCTGTTCCC
TTACCCCTACACGTACATGGCCGCAGCGGCGGCCGCCTCCTCTGCGGCAGCCTCCAGCTCGGTGCACCGCCACCCCTTCCTCAATCTGAACACCATGCGC
CCGCGGCTGCGCTACAGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTGCTCACCACCGCCCTGCCCTCCATGGCGGCGGCCGCGGGGC
CCCTGGACGGCAAAGTCGCCGCCCTGGCCGCCAGCCCGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAG
CTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAARGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCG
GACAGGTCCCGCAGCGYGTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAAC
CACGGGCCCGCCATGGCGTTAGCCCTTCCTTTTGCAGTTGCGTCTGGGAAGGGGCCCCGGACTCCCTCGAGAGAATGTGCTAGAGACAGCCCCTGTCTTC
TTGGCGTGGTTTATATGTCCGGGATCTGGATCAGATTCTGGGGGCTCAGAAACGTCGGTTGCATTGAGCTACTGGGGGTAGGAGTTCCAACATTTATGTC
CAGAGCAACTTCCAGCAAGGCTGGTCTGGGTCTCTGCCCACCAGGCGGGGAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCC
TTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATCSGGACAAGTGAACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGA
GGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATSTGTGTCTTTTTAATAT

Protein Sequence    (SEQ ID NO:1352):
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVE
DDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSK
VVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTS
EEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPG
LGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSL
FPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLS
SSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP


SNP Information

Context             (SEQ ID NO:11489):
CTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCA
Y
GGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTG
Celera SNP ID:            hCV7525069
SNP Position Transcript:  2150
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 385, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11490):
TTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGTTCTGGGCTGGATAAAAAAGCCAAAT
M
CATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATGCCAAAG
Celera SNP ID:            hCV28016618
SNP Position Transcript:  1441
SNP Source:               HGMD
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1352, 149, (Y,TAC)   (S,TCC)      



Context             (SEQ ID NO:11491):
AGCAGAGGAAGGAGGAGGAGGGCGGCGAACGGAAGCCAGTTTGCAATTCAAGTTTTGATAGCGCTGGTAGAAGGGGGTTTAAATCAGATTTTTTTTTTTT
T
AAAGGAGAGAGACTTTTTCCGCTCTCTCGCTCCCTGTTAAAGCCGGGTCTAGCACAGCTGCAGACGCCACCAGCGAGAAAGAGGGAGAGGAAGACAGATA
Celera SNP ID:            hCV11167011
SNP Position Transcript:  405
SNP Source:               Celera
Population(Allele,Count): no_pop(-,3|T,3)   total(T,3|-,3) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None   



Context             (SEQ ID NO:11492):
AAAAATCGGGACAAGTGAACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAAT
S
TGTGTCTTTTTAATAT
Celera SNP ID:            hCV27492620
SNP Position Transcript:  3743
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(G,84|C,1379)   total(G,84|C,1379) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1352, None   



Context             (SEQ ID NO:11493):
AAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTT
Y
CCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTTGAATTATGTGCTGC
Celera SNP ID:            hCV16174320
SNP Position Transcript:  812
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,29|T,11)   total(C,63|T,15)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,564|C,725)   total(C,725|T,564) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None   



Context             (SEQ ID NO:11494):
CGCCCGGTGAATTCTAGAGGCGGCGGAGGGTGGCGAGGAGCTCTCGCTTTCTCTCGCTCCCTCCCTCTCCGACTCCGTCTCTCTCTCTCTCTCTCTCTCT
Y
TCTCCCCTCCCTCTCTTTCCCTCTGTTCCATTTTTTCCCCCTCTAAATCCTCCCTGCCCTGCGCGCCTGGACACAGATTTAGGAAGCGAATTCGCTCACG
Celera SNP ID:            hCV26387339
SNP Position Transcript:  120
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,1|-,6)   total(C,1|-,6|T,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None   



Context             (SEQ ID NO:11495):
CGAGAAAGAGGGAGAGGAAGACAGATAGGGGGCGGGGGAAGAAGAAAAAGAAAGGTAAAAAGTCTTCTAGGAGAACCTTTCACATTTGCAACAAAAGACC
K
AGGGGCTGGAGAGAGATTCCTGGGACGCAGGGCTGGAGTGTCTATTTCGAGCTCAGCGGCAGGGCTCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCG
Celera SNP ID:            hCV27857681
SNP Position Transcript:  579
SNP Source:               Applera
Population(Allele,Count): african american(G,1|T,33)   caucasian(T,34)   total(G,1|T,67)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None



Context             (SEQ ID NO:11496):
CGTCGGAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAGCGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTC
K
CCCGACTCACGCCATAGCCCCGCCACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAGGGCACAGCGCCGGCCA
Celera SNP ID:            hCV25624203
SNP Position Transcript:  2291
SNP Source:               Applera
Population(Allele,Count): african american(G,25|T,1)   total(G,25|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 432, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11497):
TGGTAAGGCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAA
Y
TGAAACTCACCAACAACATTTCAGACAAACATGGATTTACTTTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGTTTTGGTACTCAGAC
Celera SNP ID:            hCV25624211
SNP Position Transcript:  1614
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 207, (L,CTG)   (L,TTG)   



Context             (SEQ ID NO:11498):
CCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCG
Y
GTCCCCGTAGACCCGTCCCAGACACGTCTTTTCATTCCAGTCCAGTTCAGGCTGCCGTGCACTTTGTCGGATATAAAATAAACCACGGGCCCGCCATGGC
Celera SNP ID:            hCV11493955
SNP Position Transcript:  3217
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1352, 741, (A,GCG)   (V,GTG)      



Context             (SEQ ID NO:11499):
GAGGTGTTCAAAGACATCTCCCTCAGTGCGGATTTATATATATATTTTTCCTTCACTGTGTCAAGTGGAAACAAAAACAAAATCTTTCAAAAAAAAAATC
S
GGACAAGTGAACACATTAACATGATTCTGTTTGTGCACTTTGTTTGGGGAGGGAAGTCCCTACCATCCTTGTTTAGTCTATATTAAGAAAATCTGTGTCT
Celera SNP ID:            hCV1412081
SNP Position Transcript:  3650
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|G,5)      total(G,5|C,4) ;no_pop(G,-|C,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1352, None   



Context             (SEQ ID NO:11500):
ACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCAT
Y
GCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAA
Celera SNP ID:            hCV25624205
SNP Position Transcript:  1832
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,38|T,2)   total(C,76|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 279, (I,ATC)   (I,ATT)   



Context             (SEQ ID NO:11501):
AGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGCGACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTC
Y
CCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATTTCTGCCTCCTTTTCTTTTTTCTTTCTTTTTTGTTTTGCTTTTTCCCCCCTTTT
Celera SNP ID:            hCV25624196
SNP Position Transcript:  798
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,34)   caucasian(C,8|T,30)   total(C,12|T,64)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None



Context             (SEQ ID NO:11502):
TCGGGCGCGAGTCGAGACCCTGCTCGCTCCTCTCGCTTCTGAAACCGACGTTCAGGAGCGGCTTTTTAAAAACGCAAGGCACAAGGACGGTCACCCGCGC
R
ACTATGTTTGCTGATTTTTCGCCTTGCCCTCTTTAAAAGCGGCCTCCCATTCTCCAAAAGACACTTCCCCTCCTCCCTTTGAAGTGCATTAGTTGTGATT
Celera SNP ID:            hCV25624197
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,19)   caucasian(G,20)   total(A,1|G,39)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(G,40)   total(A,1|G,77)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1352, None



Context             (SEQ ID NO:11503):
CGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCCTCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAA
R
GAGGCGGCCACCAGCGAACTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGCGCGTCCCCGTAGACCCGTCCCA
Celera SNP ID:            hCV25624198
SNP Position Transcript:  3137
SNP Source:               Applera
Population(Allele,Count): african american(A,31|G,3)   caucasian(A,32)   total(A,63|G,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 714, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,33|G,3)   caucasian(A,36)   total(A,69|G,3)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1352, 714, (K,AAA)   (K,AAG)   



Context             (SEQ ID NO:11504):
CATCTTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTA
W
AAATAGACAACAACCCTTTTGCAAAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGA
Celera SNP ID:            hCV27860645
SNP Position Transcript:  1872
SNP Source:               HGMD
Population(Allele,Count): no_pop(T,-|A,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1352, 293, (K,AAA)   (X,TAA)      



Gene Number:                 255
Celera Gene:                 hCG40729 - 104000117493359
Celera Transcript:           hCT31990 - 104000117493360
Public Transcript Accession: NM_002293
Celera Protein:              hCP50477 - 197000064932621
Public Protein Accession:    NP_002284
Gene Symbol:                 LAMC1
Protein Name:                laminin, gamma 1 (formerly LAMB2);LAMB2
Celera Genomic Axis:         GA_x5YUV32W2NG(21358414..21480598)
Chromosome:                  Chr1
OMIM number:                 150290
OMIM Information:            LAMININ, GAMMA-1;LAMC1


Transcript Sequence (SEQ ID NO:656):
GCGCACTCGGGCACGCGCTCGGAAGTCGGGGGTCGGCGCGGAGTGCAGGCTGCTCCCGGGGTAGGTGAGGGAAGCGCGGAGGCGGSGCGCGGGGGCAGTG
GTCGGCGAGCAGCGCGGTCCTCGCTAGGGGCGCCCACCCGTCAGTCTCTCCGGCGCGAGCCGCCGCCACCGCCCGCGCCGGAGTCAGGCCCCTGGGCCCC
CAGGCTCAAGCAGCGAAGCGGCCTCCGGGGGACGCCGCTAGGCGAGAGGAACGCGCCGGTGCCCTTGCCTTCGCCGTGACCCAGCGTGCGGGCGGCGGGA
TGAGAGGGAGCCATCGGGCCGCGCCGGCCCTGCGGCCCCGGGGGCGGCTCTGGCCCGTGCTGGCCGTGCTGGCGGCAGGCCGCCGCGGCGGGCTGTGCCC
AGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAAMGCCGCYTTCAACGTGACTGTGGTGGCCACCAA
CACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTCACCTGTGCGACGCCGGGCAGCCCCACCTGCAG
CACGGGGCAGCCTTCCTGACCGACTACAACAACCAGGCCGACACCACCTGGTGGCAAAGCCAGACCATGCTGGCCGGGGTGCAGTACCCCAGCTCCATCA
ACCTCACGCTGCACCTGGGAAAAGCTTTTGACATCACCTATGTGCGTCTCAAGTTCCACACCAGCCGCCCGGAGAGCTTTGCCATTTACAAGCGCACACG
GGAAGACGGGCCCTGGATTCCTTACCAGTACTACAGTGGTTCCTGYGAGAACACCTACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAG
CAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCACTGGGGGCAAYGTGGCCTTTTCTACCCTGGAAGGAAGGCCCAGCGCCTATAACT
TTGACAATAGCCCTGTGCTGCAGGAATGGGTAACTGCCACTGACATCAGAGTAACTCTTAATCGCCTGAACACTTTTGGAGATGAAGTGTTTAACGATCC
CAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGARTGTATGAAGAAYGAATTT
GATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAACTGCRG
AAAGTGCCAGTGAATGCCTGCCCTGTGATTGCAATGGTCGATCCCAGGAATGCTACTTCGACCCTGAACTCTATCGTTCCACTGGCCATGGGGGCCACTG
TACCAACTGCCAGGATAACACAGATGGCGCCCACTGTGAGAGGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGT
AGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTAYGGMAGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGAT
TCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTGATCCCTCTGGCAGCATAGATGAATGTAATRTTGAAACAGGAAGATGTGTTTGCAAAGA
CAATGTCGAAGGCTTCAATTGTGAAAGATGCAAACCTGGATTTTTTAATCTGGAATCATCTAATCCTCGGGGTTGCACACCCTGCTTCTGCTTTGGGCAT
TCTTCTGTCTGTACAAACGCTGTTGGCTACAGTGTTTATTCTATCTCCTCTACCTTTCAGATTGATGAGGATGGGTGGCGTGCGGAACAGAGAGATGGCT
CTGAAGCATCTCTCGAGTGGTCCTCTGAGAGGCAAGATATCGCCGTGATCTCAGACAGCTACTTTCCTCGGTACTTCATTGCTCCTGCAAAGTTCTTGGG
CAAGCAGGTGTTGAGTTATGGTCAGAACCTCTCCTTCTCCTTTCGAGTGGACAGGCGAGATACTCGCCTCTCTGCMGAAGACCTTGTGCTTGAGGGAGCT
GGCTTAAGAGTATCTGTACCCTTGATCGCTCAGGGCAATTCCTATCCAAGTGAGACCACTGTGAAGTATGTCTTCAGGCTCCATGAAGCAACAGATTACC
CTTGGAGGCCTGCTCTTACCCCTTTTGAATTTCAGAAGCTCCTAAACAACTTGACCTCTATCAAGATACGTGGGACATACAGTGAGAGAAGTGCTGGATA
TTTGGATGATGTCACCCTGGCAAGTGCTCGTCCTGGGCCTGGAGTCCCTGCAACTTGGGTGGAGTCCTGCACCTGTCCTGTGGGATATGGAGGGCAGTTT
TGTGAGATGTGCCTCTCAGGTTACAGAAGAGAAACTCCTAATCTTGGACCATACAGTCCATGTGTGCTTTGCGCCTGCAATGGACACAGCRAGACCTGTG
ATCCTGAGACAGGTGTTTGTAACTGCAGAGACAATACGGCTGGCCCGCACTGTGAGAAGTGCAGTGATGGGTACTATGGAGATTCAACTGCAGGCACCTC
CTCCGATTGCCAACCCTGTCCGTGTCCTGGAGGTTCAAGTTGTGCTGTTGTTCCCAAGACAAAGGAGGTGGTGTGCACCAACTGTCCTACTGGCACCACT
GGTAAGAGATGTGAGCTCTGTGATGATGGCTACTTTGGAGACCCCCTGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACA
TCGATCCCAAYGCAGTTGGAAATTGCAATCGCTTGACGGGAGAATGYCTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGG
ATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAGCCTGCAATTGCAATCYGTATGGGACCATGAAGCAGCAGAGCAGCTGTAACCCC
GTGACGGGGCAGTGTGAATGTTTGCCTCACGTGACTGGCCAGGACTGTGGTGCTTGTGACCCTGGATTCTACAATCTGCAGAGTGGGCAAGGCTGTGAGA
GGTGTGACTGCCATGCCTTGGGCTCCACCAATGGGCAGTGTGACATCCGCACCGGCCAGTGTGAGTGCCAGCCCGGCATCACTGGTCAGCACTGTGAGCG
CTGTGAGGTCAACCACTTTGGGTTTGGACCTGAAGGCTGCAAACCCTGTGACTGTCATCCTGAGGGATCTCTTTCACTTCAGTGCAAAGATGATGGTCGC
TGTGAATGCAGAGAAGGCTTTGTGGGAAATCGCTGTGACCAGTGTGAAGAAAACTATTTCTACAATCGGTCTTGGCCTGGCTGCCAGGAATGTCCAGCTT
GTTACCGGCTGGTAAAGGATAAGGTTGCTGATCATAGAGTGAAGCTCCAGGAATTAGAGAGTCTCATAGCAAACCTTGGAACTGGGGATGAGATGGTGAC
AGATCAAGCCTTCGAGGATAGACTAAAGGAAGCAGAGAGGGAAGTTATGGACCTCCTTCGTGAGGCCCAGGATGTCAAAGATGTTGACCAGAATTTGATG
GATCGCCTACAGAGAGTGAATAACACTCTGTCCAGCCAAATTAGCCGTTTACAGAATATCCRGAATACCATTGAAGAGACTGGAAACTTGGCTGAACAAG
CGCGTGCCCATGTAGAGAACACAGAGCGGTTGATTGAAATCGCATCCAGAGAACTTGAGAAAGCAAAAGTCGCTGCTGCCAATGTGTCAGTCACTCAGCC
AGAATCTACAGGGGACCCAAACAACATGACTCTTTTGGCAGAAGAGGCTCGAAAGCTTGCTGAACGTCATAAACAGGAAGCTGATGACATTGTTCGAGTG
GCAAAGACAGCCAATGATACGTCAACTGAGGCATACAACCTGCTTCTGAGGACACTGGCAGGAGAAAATCAAACAGCATTTGAGATTGAAGAGCTTAATA
GGAAGTATGAACAAGCGAAGAACATCTCACAGGATCTGGAAAAACAAGCTGCCCGAGTACATGAGGAGGCCAAAAGGGCCGGTGACAAAGCTGTGRAGAT
CTATGCCAGCGTGGCTCAGCTGAGCCCTTTGGACTCTGAGACACTGGAGAATGAAGCAAATAACATAAAGATGGAAGCTGAGAATCTGGAACAACTGATT
GACCAGAAATTAAAAGATTATGAGGACCTCAGAGAAGATATGAGAGGGAAGGAACTTGAAGTCAAGAACCTTCTGGAGAAAGGCAAGACTGAACAGCAGA
CCGCAGACCAACTCCTAGCCCGAGCTGATGCTGCCAAGGCCCTCGCTGAAGAAGCTGCAAAGAAGGGACGGGATACCTTACAAGAAGCTAATGACATTCT
CAACAACCTGAAAGATTTTGATAGGCGYGTGAACGATAACAAGACGGCCGCAGAGGAGGCACTAAGGAAGATTCCTGCCATCAACCAGACCATCACTGAA
GCCAATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGCRA
GCGCWGTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGCA
ACTGCAGGAAGCAGAAAAAGAGCTAAAGAGAAAACAAGATGACGCTGACCAGGACATGATGATGGCMGGGATGGCTTCACAGGCTGCTCAAGAAGCCGAG
ATCAATGCCAGAAAAGCCAAAAACTCTGTTACTAGCCTCCTCAGCATTATTAATGACCTCTTGGAGCAGCTGGGGCAGCTGGATACAGTGGACCTGAATA
AGCTAAACGAGATTGAAGGCACCCTAAACAAAGCCAAAGATGAAATGAAGGTCAGCGATCTTGATAGGAAAGTGTCTGACCTGGAGAATGAAGCCAAGAA
GCAGGAGGCTGCCATCATGGACTATAACCGAGATATCGAGGAGATCATGAAGGACATTCGCAATCTGGAGGACATCAGGAAGACCTTACCATCTGGYTGC
TTCAACACCCCGTCCATTGAAAAGCCCTAGTGTCTTTAGGGCTGGAAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACA
CAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCATSWCTGTCCTTTTGAACCAGGAAAAGTCACAGAGTTTAAAGAGAAGCAAATTAAAC
ATCCTGAATCGGGAACAAAGGGTTTTATCTAATAAAGTGTCTCTTCCATTCACGTTGCTACCTTACCCACACTTTCCCTTCTGATTTGCGTGAGGACGTG
GCATCCTACGTTACTGTACAGTGGCATAAGCACATCGTGTGAGCCCATGTATGCTGGGGTAGAGCAAGTAGCCCTCCCCTGTCTCATCGATACCAGCAGA
ACCTCCTCAGTCTCAGTACTCTTGTTTCTATGAAGGAAAAGTTTKGCTACTAACAGTAGCATTGTGATGGCCAGTATATCCAGTCCATGGATAAAGAAAA
TGCATCTGCATCTCCTRCCCCTCTTCCTTCTAAGCAAAAGGAAATAAACATCCTGTGCCAAAGGTATTGGTCATTTAGAATGTCGGTAGCCATCCATCAG
TGCTTTTAGYTATTATGAGTGTAGGACACTGAGCCATCCGTGGGTCAGGATGCAATTATTTATAAAAGTCYCCAGGTGAACATGGCTGAAGATTTTTCTA
GTATATTAATAATTGACTAGGAAGATGAACTTTTTTTCAGATCTTTGGGCAGCTGATAATTTAAATCTGGATGGGCAGCTTGCACTCACCAATAGACCAA
AAGACATCTTTTGATATTCTTATAAATGGAACTTACACAGAAGAAATAGGGATATGATAACCACTAAARTTTTGTTTTCAAAATCAAACTAATTCTTACA
GCTTTTTTATTAGTTAGTCTTGGAACTAGTGTTAAGTATCTGGCAGAGAACAGTTAATCCCTAAGGTCTTGACAAAACAGAAGAAAAACAAGCCTCCTCG
TCCTAGTCTTTTCTAGCAAAGGGATAAAACTTAGATGGCAGCTTGTACTGTCAGAATCCCGTGTATCCATTTGTTCTTCTGTTGGAGAGATGAGACATTT
GACCCTTAGCTCCAGTTTTCTTCTGATGTTTCCATCTTCCAGAATCCCTCAAAAAACATTGTTTGCCAAATCCTGGTGGCAAATACTTGCACTCAGTATT
TCACACAGCTGCCAACGCTATCGAGTTCCTGCACTTTGTGATTTAAATCCACTCTAAACCTTCCCTCTAAGTGTAGAGGGAAGACCCTTACGTGGAGTTT
CCTAGTGGGCTTCTCAACTTTTGATCCTCAGCTCTGTGGTTTTAAGACCACAGTGTGACAGTTCCCTGCCACACACCCCCTTCCTCCTACCAACCCACCT
TTGAGATTCATATATAGCCTTTAACACTATGCAACTTTGTACTTTGCGTAGCAGGGGCGGGGTGGGGGGAAAGAAACTATTATCTGACACACTGGTGCTA
TTAATTATTTCAAATTTATATTTTTGTGTGAATGTTTTGTGTTTTGTTTATCATGATTATAGAATAAGGAATTTATGTAAATATACTTAGTCCTATTTCT
AGAATGACACTCTGTTCACTTTGCTCAATTTTTCCTCTTCACTGGCACAATGTATCTGAATACCTCCTTCCCTCCCTTCTAGAATTCTTTGGATTGTACT
CCAAAGAATTGTGCCTTGTGTTTGCAGCATCTCCATTCTCTAAAATTAATATAATTGCTTTCCTCCACACCCAGCCACTGTAAAGAGGTAACTTGGGTCC
TCTTCCATTGCAGTCCTGATGATCCTAACCTGCAGCACGGTGGTTTTACAATGTTCCAGAGCAGGAACGCCAGGTTGACAAGCTATGGTAGGATTAGGAA
AGTTTGCTGAAGAGGATCTTTGACGCCACAGTGGGACTAGCCAGGAATGAGGGAGAAATGCCCTTTYTGGCAATTGTTGGAGCTGGATAGGTAAGTTTTA
TAAGGGAGTACATTTTGACTGAGCACTTAGGGCATCAGGAACAGTGCTACTTACTGRTGGGTAGACTGGGAGAGGTGGTGTAACTTAGTTCTTGATGATC
CCACTTCCTGTTTCCATCTGCTTGGGATATACCAGAGTTTACCACAAGTGTTTTGACGATATACTCCTGAGCTTTCACTCTGCTGCTTCTCCCAGGCCTC
TTCTACTATGGCAGGAGATGTGGYGTGCTGTTGCAAAGTTTTCACGTCATYGTTTCCTGGCTAGTTCATTTCATTAAGTGGCTACATCCTAACATATGCA
TTTGGTCAAGGTTGCAGAAGAGGACTGAAGATTGACTGCCAAGCTAGTTTGGGTGAAGTTCACTCCAGCAAGTCTCAGGCCACAATGGGGTGGTTTGGTT
TGGTTTCCTTTTAACTTTCTTTTTGTTATTTGCTTTTCTCCTCCACCTGTGTGGTATATTTTTTAAGCAGAATTTTATTTTTTAAAATAAAAGGTTCTTT
ACAAGATGATACCTTAATTACACTCCCGCAACACAGCCATTATTTTATTGTCTAGCTCCAGTTATCTGTATTTTATGTAATGTAATTGACAGGATGGCTG
CTGCAGAATGCTGGTTGACACAGGGATTATTATACTGCTATTTTTCCCTGAATTTTTTTCCTTTGAATTCCAACTGTGGACCTTTTATATGTGCCTTCAC
TTTAGCTGTTTGCCTTAATCTCTACAGCCTTGCTCTCCRGGGTGGTTAATAAAATGCAACACTTGGCATTTTTATGTTTTAAGAAAAACAGTATTTTATT
TATAATAAAATCTGAATATTTGTAACCCTTTA

Protein Sequence    (SEQ ID NO:1353):
MDECTDEGGRPQRCMPEFVNAAFNVTVVATNTCGTPPEEYCVQTGVTGVTKSCHLCDAGQPHLQHGAAFLTDYNNQADTTWWQSQTMLAGVQYPSSINLT
LHLGKAFDITYVRLKFHTSRPESFAIYKRTREDGPWIPYQYYSGSCENTYSKANRGFIRTGGDEQQALCTDEFSDISPLTGGNVAFSTLEGRPSAYNFDN
SPVLQEWVTATDIRVTLNRLNTFGDEVFNDPKVLKSYYYAISDFAVGGRCKCNGHASECMKNEFDKLVCNCKHNTYGVDCEKCLPFFNDRPWRRATAESA
SECLPCDCNGRSQECYFDPELYRSTGHGGHCTNCQDNTDGAHCERCRENFFRLGNNEACSSCHCSPVGSLSTQCDSYGRCSCKPGVMGDKCDRCQPGFHS
LTEAGCRPCSCDPSGSIDECNIETGRCVCKDNVEGFNCERCKPGFFNLESSNPRGCTPCFCFGHSSVCTNAVGYSVYSISSTFQIDEDGWRAEQRDGSEA
SLEWSSERQDIAVISDSYFPRYFIAPAKFLGKQVLSYGQNLSFSFRVDRRDTRLSAEDLVLEGAGLRVSVPLIAQGNSYPSETTVKYVFRLHEATDYPWR
PALTPFEFQKLLNNLTSIKIRGTYSERSAGYLDDVTLASARPGPGVPATWVESCTCPVGYGGQFCEMCLSGYRRETPNLGPYSPCVLCACNGHSETCDPE
TGVCNCRDNTAGPHCEKCSDGYYGDSTAGTSSDCQPCPCPGGSSCAVVPKTKEVVCTNCPTGTTGKRCELCDDGYFGDPLGRNGPVRLCRLCQCSDNIDP
NAVGNCNRLTGECLKCIYNTAGFYCDRCKDGFFGNPLAPNPADKCKACNCNLYGTMKQQSSCNPVTGQCECLPHVTGQDCGACDPGFYNLQSGQGCERCD
CHALGSTNGQCDIRTGQCECQPGITGQHCERCEVNHFGFGPEGCKPCDCHPEGSLSLQCKDDGRCECREGFVGNRCDQCEENYFYNRSWPGCQECPACYR
LVKDKVADHRVKLQELESLIANLGTGDEMVTDQAFEDRLKEAEREVMDLLREAQDVKDVDQNLMDRLQRVNNTLSSQISRLQNIRNTIEETGNLAEQARA
HVENTERLIEIASRELEKAKVAAANVSVTQPESTGDPNNMTLLAEEARKLAERHKQEADDIVRVAKTANDTSTEAYNLLLRTLAGENQTAFEIEELNRKY
EQAKNISQDLEKQAARVHEEAKRAGDKAVEIYASVAQLSPLDSETLENEANNIKMEAENLEQLIDQKLKDYEDLREDMRGKELEVKNLLEKGKTEQQTAD
QLLARADAAKALAEEAAKKGRDTLQEANDILNNLKDFDRRVNDNKTAAEEALRKIPAINQTITEANEKTREAQQALGSAAADATEAKNKAHEAERIASAV
QKNATSTKAEAERTFAEVTDLDNEVNNMLKQLQEAEKELKRKQDDADQDMMMAGMASQAAQEAEINARKAKNSVTSLLSIINDLLEQLGQLDTVDLNKLN
EIEGTLNKAKDEMKVSDLDRKVSDLENEAKKQEAAIMDYNRDIEEIMKDIRNLEDIRKTLPSGCFNTPSIEKP


SNP Information

Context             (SEQ ID NO:11505):
AGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACACAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCATG
W
CTGTCCTTTTGAACCAGGAAAAGTCACAGAGTTTAAAGAGAAGCAAATTAAACATCCTGAATCGGGAACAAAGGGTTTTATCTAATAAAGTGTCTCTTCC
Celera SNP ID:            hCV11455644
SNP Position Transcript:  5247
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11506):
AACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAGCCTGCAATTGCAATC
Y
GTATGGGACCATGAAGCAGCAGAGCAGCTGTAACCCCGTGACGGGGCAGTGTGAATGTTTGCCTCACGTGACTGGCCAGGACTGTGGTGCTTGTGACCCT
Celera SNP ID:            hCV3127512
SNP Position Transcript:  2963
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,24)   caucasian(C,10|T,8)   total(C,20|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 852, (P,CCG)   (L,CTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,5|T,8)   total(C,5|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 852, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11507):
AGGGCAGTTTTGTGAGATGTGCCTCTCAGGTTACAGAAGAGAAACTCCTAATCTTGGACCATACAGTCCATGTGTGCTTTGCGCCTGCAATGGACACAGC
R
AGACCTGTGATCCTGAGACAGGTGTTTGTAACTGCAGAGACAATACGGCTGGCCCGCACTGTGAGAAGTGCAGTGATGGGTACTATGGAGATTCAACTGC
Celera SNP ID:            hCV15852069
SNP Position Transcript:  2491
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 695, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11508):
ATCTGGATAATGAGGTGAACAATATGTTGAAGCAACTGCAGGAAGCAGAAAAAGAGCTAAAGAGAAAACAAGATGACGCTGACCAGGACATGATGATGGC
M
GGGATGGCTTCACAGGCTGCTCAAGAAGCCGAGATCAATGCCAGAAAAGCCAAAAACTCTGTTACTAGCCTCCTCAGCATTATTAATGACCTCTTGGAGC
Celera SNP ID:            hCV11455645
SNP Position Transcript:  4767
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,37|C,1)   total(A,64|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1453, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:11509):
GGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGTAGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTACGG
M
AGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTG
Celera SNP ID:            hCV11455646
SNP Position Transcript:  1542
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 378, (G,GGA)   (G,GGC)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 378, (G,GGA)   (G,GGC)      



Context             (SEQ ID NO:11510):
GTCTCAAGTTCCACACCAGCCGCCCGGAGAGCTTTGCCATTTACAAGCGCACACGGGAAGACGGGCCCTGGATTCCTTACCAGTACTACAGTGGTTCCTG
Y
GAGAACACCTACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAGCAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCA
Celera SNP ID:            hCV3127531
SNP Position Transcript:  846
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,6)      total(C,4|T,6) ;JBIC-allele(T,548|C,909)   total(C,909|T,548)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 146, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:11511):
ACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAGCAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCACTGGGGGCAA
Y
GTGGCCTTTTCTACCCTGGAAGGAAGGCCCAGCGCCTATAACTTTGACAATAGCCCTGTGCTGCAGGAATGGGTAACTGCCACTGACATCAGAGTAACTC
Celera SNP ID:            hCV3127532
SNP Position Transcript:  957
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,245|C,1228)   total(C,1228|T,245)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 183, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11512):
TGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACATCGATCCCAATGCAGTTGGAAATTGCAATCGCTTGACGGGAGAATG
Y
CTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAG
Celera SNP ID:            hCV25624006
SNP Position Transcript:  2847
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 813, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11513):
ACGCCAGGTTGACAAGCTATGGTAGGATTAGGAAAGTTTGCTGAAGAGGATCTTTGACGCCACAGTGGGACTAGCCAGGAATGAGGGAGAAATGCCCTTT
Y
TGGCAATTGTTGGAGCTGGATAGGTAAGTTTTATAAGGGAGTACATTTTGACTGAGCACTTAGGGCATCAGGAACAGTGCTACTTACTGATGGGTAGACT
Celera SNP ID:            hCV3127460
SNP Position Transcript:  7067
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,3)      total(C,3|T,2) ;JBIC-allele(C,568|T,915)   total(C,568|T,915)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11514):
ATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGCGAGCGC
W
GTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGCAACTGC
Celera SNP ID:            hCV25624023
SNP Position Transcript:  4605
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,1|T,37)   total(A,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1399, (A,GCA)   (A,GCT)   



Context             (SEQ ID NO:11515):
TCATTTAGAATGTCGGTAGCCATCCATCAGTGCTTTTAGCTATTATGAGTGTAGGACACTGAGCCATCCGTGGGTCAGGATGCAATTATTTATAAAAGTC
Y
CCAGGTGAACATGGCTGAAGATTTTTCTAGTATATTAATAATTGACTAGGAAGATGAACTTTTTTTCAGATCTTTGGGCAGCTGATAATTTAAATCTGGA
Celera SNP ID:            hCV3127461
SNP Position Transcript:  5771
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;JBIC-allele(T,532|C,777)   total(C,777|T,532)   no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11516):
AGAGGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGTAGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTA
Y
GGCAGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTT
Celera SNP ID:            hCV25624031
SNP Position Transcript:  1539
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 377, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11517):
GTGAGCTCTGTGATGATGGCTACTTTGGAGACCCCCTGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACATCGATCCCAA
Y
GCAGTTGGAAATTGCAATCGCTTGACGGGAGAATGCCTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAA
Celera SNP ID:            hCV3127518
SNP Position Transcript:  2811
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,24)   caucasian(C,17|T,21)   total(C,29|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 801, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,25)   caucasian(C,20|T,20)   total(C,33|T,45)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 801, (N,AAC)   (N,AAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 801, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11518):
ATGCTGCCAAGGCCCTCGCTGAAGAAGCTGCAAAGAAGGGACGGGATACCTTACAAGAAGCTAATGACATTCTCAACAACCTGAAAGATTTTGATAGGCG
Y
GTGAACGATAACAAGACGGCCGCAGAGGAGGCACTAAGGAAGATTCCTGCCATCAACCAGACCATCACTGAAGCCAATGAAAAGACCAGAGAAGCCCAGC
Celera SNP ID:            hCV3127470
SNP Position Transcript:  4428
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,11|T,29)   total(C,20|T,50)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1340, (R,CGC)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(C,-|T,-)   JBIC-allele(T,537|C,888)   total(C,888|T,537)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1340, (R,CGC)   (R,CGT)      1340, (R,CGT)   (R,CGC)      



Context             (SEQ ID NO:11519):
AGAAGCAGGAGGCTGCCATCATGGACTATAACCGAGATATCGAGGAGATCATGAAGGACATTCGCAATCTGGAGGACATCAGGAAGACCTTACCATCTGG
Y
TGCTTCAACACCCCGTCCATTGAAAAGCCCTAGTGTCTTTAGGGCTGGAAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTG
Celera SNP ID:            hCV25624025
SNP Position Transcript:  5097
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1563, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:11520):
TAATAGGAAGTATGAACAAGCGAAGAACATCTCACAGGATCTGGAAAAACAAGCTGCCCGAGTACATGAGGAGGCCAAAAGGGCCGGTGACAAAGCTGTG
R
AGATCTATGCCAGCGTGGCTCAGCTGAGCCCTTTGGACTCTGAGACACTGGAGAATGAAGCAAATAACATAAAGATGGAAGCTGAGAATCTGGAACAACT
Celera SNP ID:            hCV25624017
SNP Position Transcript:  4096
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 1230, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11521):
TTTTGACGATATACTCCTGAGCTTTCACTCTGCTGCTTCTCCCAGGCCTCTTCTACTATGGCAGGAGATGTGGCGTGCTGTTGCAAAGTTTTCACGTCAT
Y
GTTTCCTGGCTAGTTCATTTCATTAAGTGGCTACATCCTAACATATGCATTTGGTCAAGGTTGCAGAAGAGGACTGAAGATTGACTGCCAAGCTAGTTTG
Celera SNP ID:            hCV3127458
SNP Position Transcript:  7351
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,1|T,4)      total(C,1|T,4) ;no_pop(C,-|T,-)   ;JBIC-allele(T,552|C,897)   total(C,897|T,552)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11522):
GGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTGATCCCTCTGGCAGCATAGATGAATGTAAT
R
TTGAAACAGGAAGATGTGTTTGCAAAGACAATGTCGAAGGCTTCAATTGTGAAAGATGCAAACCTGGATTTTTTAATCTGGAATCATCTAATCCTCGGGG
Celera SNP ID:            hCV11632431
SNP Position Transcript:  1672
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,2|A,9)      total(G,2|A,9) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 422, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:11523):
AATGCCCTTTCTGGCAATTGTTGGAGCTGGATAGGTAAGTTTTATAAGGGAGTACATTTTGACTGAGCACTTAGGGCATCAGGAACAGTGCTACTTACTG
R
TGGGTAGACTGGGAGAGGTGGTGTAACTTAGTTCTTGATGATCCCACTTCCTGTTTCCATCTGCTTGGGATATACCAGAGTTTACCACAAGTGTTTTGAC
Celera SNP ID:            hCV3127459
SNP Position Transcript:  7157
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,3)      total(G,2|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11524):
GGATGGGCAGCTTGCACTCACCAATAGACCAAAAGACATCTTTTGATATTCTTATAAATGGAACTTACACAGAAGAAATAGGGATATGATAACCACTAAA
R
TTTTGTTTTCAAAATCAAACTAATTCTTACAGCTTTTTTATTAGTTAGTCTTGGAACTAGTGTTAAGTATCTGGCAGAGAACAGTTAATCCCTAAGGTCT
Celera SNP ID:            hCV1770044
SNP Position Transcript:  5969
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,3)      total(G,1|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11525):
TCATTGCTCCTGCAAAGTTCTTGGGCAAGCAGGTGTTGAGTTATGGTCAGAACCTCTCCTTCTCCTTTCGAGTGGACAGGCGAGATACTCGCCTCTCTGC
M
GAAGACCTTGTGCTTGAGGGAGCTGGCTTAAGAGTATCTGTACCCTTGATCGCTCAGGGCAATTCCTATCCAAGTGAGACCACTGTGAAGTATGTCTTCA
Celera SNP ID:            hCV3127590
SNP Position Transcript:  2076
SNP Source:               Applera
Population(Allele,Count): african american(A,16|C,10)   caucasian(A,13|C,13)   total(A,29|C,23)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 556, (A,GCA)   (A,GCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,11)   caucasian(A,20|C,18)   total(A,41|C,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 556, (A,GCA)   (A,GCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,7)      total(A,7|C,4) ;JBIC-allele(A,569|C,928)   total(A,569|C,928)   no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 556, (A,GCA)   (A,GCC)      



Context             (SEQ ID NO:11526):
AAGCCAATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGC
R
AGCGCTGTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGC
Celera SNP ID:            hCV3127469
SNP Position Transcript:  4599
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,13|G,25)   total(A,19|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1397, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 1397, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11527):
GAGGCCCAGGATGTCAAAGATGTTGACCAGAATTTGATGGATCGCCTACAGAGAGTGAATAACACTCTGTCCAGCCAAATTAGCCGTTTACAGAATATCC
R
GAATACCATTGAAGAGACTGGAAACTTGGCTGAACAAGCGCGTGCCCATGTAGAGAACACAGAGCGGTTGATTGAAATCGCATCCAGAGAACTTGAGAAA
Celera SNP ID:            hCV3127498
SNP Position Transcript:  3662
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(A,4|G,36)   total(A,6|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 1085, (Q,CAG)   (R,CGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;WIAF-CSNP-MITOGP(4(A,4|G,36)   total(G,36|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 1085, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:11528):
GGGATATACCAGAGTTTACCACAAGTGTTTTGACGATATACTCCTGAGCTTTCACTCTGCTGCTTCTCCCAGGCCTCTTCTACTATGGCAGGAGATGTGG
Y
GTGCTGTTGCAAAGTTTTCACGTCATTGTTTCCTGGCTAGTTCATTTCATTAAGTGGCTACATCCTAACATATGCATTTGGTCAAGGTTGCAGAAGAGGA
Celera SNP ID:            hCV8350008
SNP Position Transcript:  7324
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,3|C,4)      total(C,4|T,3) ;no_pop(C,-|T,-)   JBIC-allele(C,556|T,905)   total(C,556|T,905) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11529):
ATCTCCTGCCCCTCTTCCTTCTAAGCAAAAGGAAATAAACATCCTGTGCCAAAGGTATTGGTCATTTAGAATGTCGGTAGCCATCCATCAGTGCTTTTAG
Y
TATTATGAGTGTAGGACACTGAGCCATCCGTGGGTCAGGATGCAATTATTTATAAAAGTCCCCAGGTGAACATGGCTGAAGATTTTTCTAGTATATTAAT
Celera SNP ID:            hCV8350016
SNP Position Transcript:  5710
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11530):
TTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAACTGC
R
GAAAGTGCCAGTGAATGCCTGCCCTGTGATTGCAATGGTCGATCCCAGGAATGCTACTTCGACCCTGAACTCTATCGTTCCACTGGCCATGGGGGCCACT
Celera SNP ID:            hCV25472253
SNP Position Transcript:  1299
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 297, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:11531):
TACTCTTGTTTCTATGAAGGAAAAGTTTGGCTACTAACAGTAGCATTGTGATGGCCAGTATATCCAGTCCATGGATAAAGAAAATGCATCTGCATCTCCT
R
CCCCTCTTCCTTCTAAGCAAAAGGAAATAAACATCCTGTGCCAAAGGTATTGGTCATTTAGAATGTCGGTAGCCATCCATCAGTGCTTTTAGCTATTATG
Celera SNP ID:            hCV8350017
SNP Position Transcript:  5617
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(G,-|A,-)   JBIC-allele(A,590|G,895)   total(G,895|A,590)   TSC_42_C(A,12|G,71)   TSC_42_AA(A,29|G,54)   total(G,125|A,41)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11532):
GCGCACTCGGGCACGCGCTCGGAAGTCGGGGGTCGGCGCGGAGTGCAGGCTGCTCCCGGGGTAGGTGAGGGAAGCGCGGAGGCGG
S
GCGCGGGGGCAGTGGTCGGCGAGCAGCGCGGTCCTCGCTAGGGGCGCCCACCCGTCAGTCTCTCCGGCGCGAGCCGCCGCCACCGCCCGCGCCGGAGTCA
Celera SNP ID:            hCV26124235
SNP Position Transcript:  86
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11533):
GCTGGCGGCAGGCCGCCGCGGCGGGCTGTGCCCAGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAA
M
GCCGCCTTCAACGTGACTGTGGTGGCCACCAACACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTC
Celera SNP ID:            hCV27468996
SNP Position Transcript:  468
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1353, 20, (K,AAA)   (N,AAC)      



Context             (SEQ ID NO:11534):
ACGATCCCAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGAGTGTATGAAGAA
Y
GAATTTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAA
Celera SNP ID:            hCV25472254
SNP Position Transcript:  1194
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 262, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11535):
CCATGTATGCTGGGGTAGAGCAAGTAGCCCTCCCCTGTCTCATCGATACCAGCAGAACCTCCTCAGTCTCAGTACTCTTGTTTCTATGAAGGAAAAGTTT
K
GCTACTAACAGTAGCATTGTGATGGCCAGTATATCCAGTCCATGGATAAAGAAAATGCATCTGCATCTCCTGCCCCTCTTCCTTCTAAGCAAAAGGAAAT
Celera SNP ID:            hCV8350018
SNP Position Transcript:  5545
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11536):
AAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACACAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCAT
S
ACTGTCCTTTTGAACCAGGAAAAGTCACAGAGTTTAAAGAGAAGCAAATTAAACATCCTGAATCGGGAACAAAGGGTTTTATCTAATAAAGTGTCTCTTC
Celera SNP ID:            hCV8350027
SNP Position Transcript:  5246
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   JBIC-allele(C,602|G,887)   total(G,887|C,602)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Context             (SEQ ID NO:11537):
GGCAGGCCGCCGCGGCGGGCTGTGCCCAGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAACGCCGC
Y
TTCAACGTGACTGTGGTGGCCACCAACACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTCACCTGT
Celera SNP ID:            hCV26124236
SNP Position Transcript:  474
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,3)   total(C,3|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 22, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11538):
ATGAAGTGTTTAACGATCCCAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGA
R
TGTATGAAGAACGAATTTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGT
Celera SNP ID:            hCV25472255
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1353, 258, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:11539):
TATTTTTCCCTGAATTTTTTTCCTTTGAATTCCAACTGTGGACCTTTTATATGTGCCTTCACTTTAGCTGTTTGCCTTAATCTCTACAGCCTTGCTCTCC
R
GGGTGGTTAATAAAATGCAACACTTGGCATTTTTATGTTTTAAGAAAAACAGTATTTTATTTATAATAAAATCTGAATATTTGTAACCCTTTA
Celera SNP ID:            hCV26124318
SNP Position Transcript:  7839
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)   JBIG-allele(G,481|A,800)   total(G,481|A,800)   POOLE|_CEPH(A,87|G,101)   total(G,101|A,87) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1353, None   



Gene Number:                 255
Celera Gene:                 hCG40729 - 104000117493359
Celera Transcript:           hCT2323130 - 104000117493418
Public Transcript Accession: NM_002293
Celera Protein:              hCP1799982 - 197000064932623
Public Protein Accession:    NP_002284
Gene Symbol:                 LAMC1
Protein Name:                laminin, gamma 1 (formerly LAMB2);LAMB2
Celera Genomic Axis:         GA_x5YUV32W2NG(21358414..21478020)
Chromosome:                  Chr1
OMIM number:                 150290
OMIM Information:            LAMININ, GAMMA-1;LAMC1


Transcript Sequence (SEQ ID NO:657):
GCGCACTCGGGCACGCGCTCGGAAGTCGGGGGTCGGCGCGGAGTGCAGGCTGCTCCCGGGGTAGGTGAGGGAAGCGCGGAGGCGGSGCGCGGGGGCAGTG
GTCGGCGAGCAGCGCGGTCCTCGCTAGGGGCGCCCACCCGTCAGTCTCTCCGGCGCGAGCCGCCGCCACCGCCCGCGCCGGAGTCAGGCCCCTGGGCCCC
CAGGCTCAAGCAGCGAAGCGGCCTCCGGGGGACGCCGCTAGGCGAGAGGAACGCGCCGGTGCCCTTGCCTTCGCCGTGACCCAGCGTGCGGGCGGCGGGA
TGAGAGGGAGCCATCGGGCCGCGCCGGCCCTGCGGCCCCGGGGGCGGCTCTGGCCCGTGCTGGCCGTGCTGGCGGCAGGCCGCCGCGGCGGGCTGTGCCC
AGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAAMGCCGCYTTCAACGTGACTGTGGTGGCCACCAA
CACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTCACCTGTGCGACGCCGGGCAGCCCCACCTGCAG
CACGGGGCAGCCTTCCTGACCGACTACAACAACCAGGCCGACACCACCTGGTGGCAAAGCCAGACCATGCTGGCCGGGGTGCAGTACCCCAGCTCCATCA
ACCTCACGCTGCACCTGGGAAAAGCTTTTGACATCACCTATGTGCGTCTCAAGTTCCACACCAGCCGCCCGGAGAGCTTTGCCATTTACAAGCGCACACG
GGAAGACGGGCCCTGGATTCCTTACCAGTACTACAGTGGTTCCTGYGAGAACACCTACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAG
CAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCACTGGGGGCAAYGTGGCCTTTTCTACCCTGGAAGGAAGGCCCAGCGCCTATAACT
TTGACAATAGCCCTGTGCTGCAGGAATGGGTAACTGCCACTGACATCAGAGTAACTCTTAATCGCCTGAACACTTTTGGAGATGAAGTGTTTAACGATCC
CAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGARTGTATGAAGAAYGAATTT
GATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAACTGCRG
AAAGTGCCAGTGAATGCCTGCCCTGTGATTGCAATGGTCGATCCCAGGAATGCTACTTCGACCCTGAACTCTATCGTTCCACTGGCCATGGGGGCCACTG
TACCAACTGCCAGGATAACACAGATGGCGCCCACTGTGAGAGGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGT
AGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTAYGGMAGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGAT
TCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTGATCCCTCTGGCAGCATAGATGAATGTAATRTTGAAACAGGAAGATGTGTTTGCAAAGA
CAATGTCGAAGGCTTCAATTGTGAAAGATGCAAACCTGGATTTTTTAATCTGGAATCATCTAATCCTCGGGGTTGCACACCCTGCTTCTGCTTTGGGCAT
TCTTCTGTCTGTACAAACGCTGTTGGCTACAGTGTTTATTCTATCTCCTCTACCTTTCAGATTGATGAGGATGGGTGGCGTGCGGAACAGAGAGATGGCT
CTGAAGCATCTCTCGAGTGGTCCTCTGAGAGGCAAGATATCGCCGTGATCTCAGACAGCTACTTTCCTCGGTACTTCATTGCTCCTGCAAAGTTCTTGGG
CAAGCAGGTGTTGAGTTATGGTCAGAACCTCTCCTTCTCCTTTCGAGTGGACAGGCGAGATACTCGCCTCTCTGCMGAAGACCTTGTGCTTGAGGGAGCT
GGCTTAAGAGTATCTGTACCCTTGATCGCTCAGGGCAATTCCTATCCAAGTGAGACCACTGTGAAGTATGTCTTCAGGCTCCATGAAGCAACAGATTACC
CTTGGAGGCCTGCTCTTACCCCTTTTGAATTTCAGAAGCTCCTAAACAACTTGACCTCTATCAAGATACGTGGGACATACAGTGAGAGAAGTGCTGGATA
TTTGGATGATGTCACCCTGGCAAGTGCTCGTCCTGGGCCTGGAGTCCCTGCAACTTGGGTGGAGTCCTGCACCTGTCCTGTGGGATATGGAGGGCAGTTT
TGTGAGATGTGCCTCTCAGGTTACAGAAGAGAAACTCCTAATCTTGGACCATACAGTCCATGTGTGCTTTGCGCCTGCAATGGACACAGCRAGACCTGTG
ATCCTGAGACAGGTGTTTGTAACTGCAGAGACAATACGGCTGGCCCGCACTGTGAGAAGTGCAGTGATGGGTACTATGGAGATTCAACTGCAGGCACCTC
CTCCGATTGCCAACCCTGTCCGTGTCCTGGAGGTTCAAGTTGTGCTGTTGTTCCCAAGACAAAGGAGGTGGTGTGCACCAACTGTCCTACTGGCACCACT
GGTAAGAGATGTGAGCTCTGTGATGATGGCTACTTTGGAGACCCCCTGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACA
TCGATCCCAAYGCAGTTGGAAATTGCAATCGCTTGACGGGAGAATGYCTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGG
ATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAGCCTGCAATTGCAATCYGTATGGGACCATGAAGCAGCAGAGCAGCTGTAACCCC
GTGACGGGGCAGTGTGAATGTTTGCCTCACGTGACTGGCCAGGACTGTGGTGCTTGTGACCCTGGATTCTACAATCTGCAGAGTGGGCAAGGCTGTGAGA
GGTGTGACTGCCATGCCTTGGGCTCCACCAATGGGCAGTGTGACATCCGCACCGGCCAGTGTGAGTGCCAGCCCGGCATCACTGGTCAGCACTGTGAGCG
CTGTGAGGTCAACCACTTTGGGTTTGGACCTGAAGGCTGCAAACCCTGTGACTGTCATCCTGAGGGATCTCTTTCACTTCAGTGCAAAGATGATGGTCGC
TGTGAATGCAGAGAAGGCTTTGTGGGAAATCGCTGTGACCAGTGTGAAGAAAACTATTTCTACAATCGGTCTTGGCCTGGCTGCCAGGAATGTCCAGCTT
GTTACCGGCTGGTAAAGGATAAGGTTGCTGATCATAGAGTGAAGCTCCAGGAATTAGAGAGTCTCATAGCAAACCTTGGAACTGGGGATGAGATGGTGAC
AGATCAAGCCTTCGAGGATAGACTAAAGGAAGCAGAGAGGGAAGTTATGGACCTCCTTCGTGAGGCCCAGGATGTCAAAGATGTTGACCAGAATTTGATG
GATCGCCTACAGAGAGTGAATAACACTCTGTCCAGCCAAATTAGCCGTTTACAGAATATCCRGAATACCATTGAAGAGACTGGAAACTTGGCTGAACAAG
CGCGTGCCCATGTAGAGAACACAGAGCGGTTGATTGAAATCGCATCCAGAGAACTTGAGAAAGCAAAAGTCGCTGCTGCCAATGTGTCAGTCACTCAGCC
AGAATCTACAGGGGACCCAAACAACATGACTCTTTTGGCAGAAGAGGCTCGAAAGCTTGCTGAACGTCATAAACAGGAAGCTGATGACATTGTTCGAGTG
GCAAAGACAGCCAATGATACGTCAACTGAGGCATACAACCTGCTTCTGAGGACACTGGCAGGAGAAAATCAAACAGCATTTGAGATTGAAGAGCTTAATA
GGAAGTATGAACAAGCGAAGAACATCTCACAGGATCTGGAAAAACAAGCTGCCCGAGTACATGAGGAGGCCAAAAGGGCCGGTGACAAAGCTGTGRAGAT
CTATGCCAGCGTGGCTCAGCTGAGCCCTTTGGACTCTGAGACACTGGAGAATGAAGCAAATAACATAAAGATGGAAGCTGAGAATCTGGAACAACTGATT
GACCAGAAATTAAAAGATTATGAGGACCTCAGAGAAGATATGAGAGGGAAGGAACTTGAAGTCAAGAACCTTCTGGAGAAAGGCAAGACTGAACAGCAGA
CCGCAGACCAACTCCTAGCCCGAGCTGATGCTGCCAAGGCCCTCGCTGAAGAAGCTGCAAAGAAGGGACGGGATACCTTACAAGAAGCTAATGACATTCT
CAACAACCTGAAAGATTTTGATAGGCGYGTGAACGATAACAAGACGGCCGCAGAGGAGGCACTAAGGAAGATTCCTGCCATCAACCAGACCATCACTGAA
GCCAATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGCRA
GCGCWGTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGCA
ACTGCAGGAAGCAGAAAAAGAGCTAAAGAGAAAACAAGATGACGCTGACCAGGACATGATGATGGCMGGGATGGCTTCACAGGCTGCTCAAGAAGCCGAG
ATCAATGCCAGAAAAGCCAAAAACTCTGTTACTAGCCTCCTCAGCATTATTAATGACCTCTTGGAGCAGCTGGGGCAGCTGGATACAGTGGACCTGAATA
AGCTAAACGAGATTGAAGGCACCCTAAACAAAGCCAAAGATGAAATGAAGGTCAGCGATCTTGATAGGAAAGTGTCTGACCTGGAGAATGAAGCCAAGAA
GCAGGAGGCTGCCATCATGGACTATAACCGAGATATCGAGGAGATCATGAAGGACATTCGCAATCTGGAGGACATCAGGAAGACCTTACCATCTGGYTGC
TTCAACACCCCGTCCATTGAAAAGCCCTAGTGTCTTTAGGGCTGGAAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACA
CAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCATSWCTGTCCTTTTGAACCAGGAAAAGGTTTTATCTAATAAAGTGTCTCTTCCATTC
ACG

Protein Sequence    (SEQ ID NO:1354):
MDECTDEGGRPQRCMPEFVNAAFNVTVVATNTCGTPPEEYCVQTGVTGVTKSCHLCDAGQPHLQHGAAFLTDYNNQADTTWWQSQTMLAGVQYPSSINLT
LHLGKAFDITYVRLKFHTSRPESFAIYKRTREDGPWIPYQYYSGSCENTYSKANRGFIRTGGDEQQALCTDEFSDISPLTGGNVAFSTLEGRPSAYNFDN
SPVLQEWVTATDIRVTLNRLNTFGDEVFNDPKVLKSYYYAISDFAVGGRCKCNGHASECMKNEFDKLVCNCKHNTYGVDCEKCLPFFNDRPWRRATAESA
SECLPCDCNGRSQECYFDPELYRSTGHGGHCTNCQDNTDGAHCERCRENFFRLGNNEACSSCHCSPVGSLSTQCDSYGRCSCKPGVMGDKCDRCQPGFHS
LTEAGCRPCSCDPSGSIDECNIETGRCVCKDNVEGFNCERCKPGFFNLESSNPRGCTPCFCFGHSSVCTNAVGYSVYSISSTFQIDEDGWRAEQRDGSEA
SLEWSSERQDIAVISDSYFPRYFIAPAKFLGKQVLSYGQNLSFSFRVDRRDTRLSAEDLVLEGAGLRVSVPLIAQGNSYPSETTVKYVFRLHEATDYPWR
PALTPFEFQKLLNNLTSIKIRGTYSERSAGYLDDVTLASARPGPGVPATWVESCTCPVGYGGQFCEMCLSGYRRETPNLGPYSPCVLCACNGHSETCDPE
TGVCNCRDNTAGPHCEKCSDGYYGDSTAGTSSDCQPCPCPGGSSCAVVPKTKEVVCTNCPTGTTGKRCELCDDGYFGDPLGRNGPVRLCRLCQCSDNIDP
NAVGNCNRLTGECLKCIYNTAGFYCDRCKDGFFGNPLAPNPADKCKACNCNLYGTMKQQSSCNPVTGQCECLPHVTGQDCGACDPGFYNLQSGQGCERCD
CHALGSTNGQCDIRTGQCECQPGITGQHCERCEVNHFGFGPEGCKPCDCHPEGSLSLQCKDDGRCECREGFVGNRCDQCEENYFYNRSWPGCQECPACYR
LVKDKVADHRVKLQELESLIANLGTGDEMVTDQAFEDRLKEAEREVMDLLREAQDVKDVDQNLMDRLQRVNNTLSSQISRLQNIRNTIEETGNLAEQARA
HVENTERLIEIASRELEKAKVAAANVSVTQPESTGDPNNMTLLAEEARKLAERHKQEADDIVRVAKTANDTSTEAYNLLLRTLAGENQTAFEIEELNRKY
EQAKNISQDLEKQAARVHEEAKRAGDKAVEIYASVAQLSPLDSETLENEANNIKMEAENLEQLIDQKLKDYEDLREDMRGKELEVKNLLEKGKTEQQTAD
QLLARADAAKALAEEAAKKGRDTLQEANDILNNLKDFDRRVNDNKTAAEEALRKIPAINQTITEANEKTREAQQALGSAAADATEAKNKAHEAERIASAV
QKNATSTKAEAERTFAEVTDLDNEVNNMLKQLQEAEKELKRKQDDADQDMMMAGMASQAAQEAEINARKAKNSVTSLLSIINDLLEQLGQLDTVDLNKLN
EIEGTLNKAKDEMKVSDLDRKVSDLENEAKKQEAAIMDYNRDIEEIMKDIRNLEDIRKTLPSGCFNTPSIEKP


SNP Information

Context             (SEQ ID NO:11540):
AACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAGCCTGCAATTGCAATC
Y
GTATGGGACCATGAAGCAGCAGAGCAGCTGTAACCCCGTGACGGGGCAGTGTGAATGTTTGCCTCACGTGACTGGCCAGGACTGTGGTGCTTGTGACCCT
Celera SNP ID:            hCV3127512
SNP Position Transcript:  2963
SNP Source:               Applera
Population(Allele,Count): african american(C,10|T,24)   caucasian(C,10|T,8)   total(C,20|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 852, (P,CCG)   (L,CTG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(C,5|T,8)   total(C,5|T,8) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 852, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:11541):
AGGGCAGTTTTGTGAGATGTGCCTCTCAGGTTACAGAAGAGAAACTCCTAATCTTGGACCATACAGTCCATGTGTGCTTTGCGCCTGCAATGGACACAGC
R
AGACCTGTGATCCTGAGACAGGTGTTTGTAACTGCAGAGACAATACGGCTGGCCCGCACTGTGAGAAGTGCAGTGATGGGTACTATGGAGATTCAACTGC
Celera SNP ID:            hCV15852069
SNP Position Transcript:  2491
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 695, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11542):
AGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACACAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCATG
W
CTGTCCTTTTGAACCAGGAAAAGGTTTTATCTAATAAAGTGTCTCTTCCATTCACG
Celera SNP ID:            hCV11455644
SNP Position Transcript:  5247
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1354, None   



Context             (SEQ ID NO:11543):
ATCTGGATAATGAGGTGAACAATATGTTGAAGCAACTGCAGGAAGCAGAAAAAGAGCTAAAGAGAAAACAAGATGACGCTGACCAGGACATGATGATGGC
M
GGGATGGCTTCACAGGCTGCTCAAGAAGCCGAGATCAATGCCAGAAAAGCCAAAAACTCTGTTACTAGCCTCCTCAGCATTATTAATGACCTCTTGGAGC
Celera SNP ID:            hCV11455645
SNP Position Transcript:  4767
SNP Source:               Applera
Population(Allele,Count): african american(A,27|C,1)   caucasian(A,37|C,1)   total(A,64|C,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1453, (A,GCA)   (A,GCC)   



Context             (SEQ ID NO:11544):
GTCTCAAGTTCCACACCAGCCGCCCGGAGAGCTTTGCCATTTACAAGCGCACACGGGAAGACGGGCCCTGGATTCCTTACCAGTACTACAGTGGTTCCTG
Y
GAGAACACCTACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAGCAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCA
Celera SNP ID:            hCV3127531
SNP Position Transcript:  846
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|T,6)      total(C,4|T,6) ;JBIC-allele(T,548|C,909)   total(C,909|T,548)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 146, (C,TGC)   (C,TGT)      



Context             (SEQ ID NO:11545):
GGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGTAGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTACGG
M
AGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTG
Celera SNP ID:            hCV11455646
SNP Position Transcript:  1542
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(A,1|C,39)   total(A,1|C,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 378, (G,GGA)   (G,GGC)   

SNP Source:               HGBASE
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 378, (G,GGA)   (G,GGC)      



Context             (SEQ ID NO:11546):
ACTCCAAGGCAAACCGCGGCTTCATCAGGACAGGAGGGGACGAGCAGCAGGCCTTGTGTACTGATGAATTCAGTGACATTTCTCCCCTCACTGGGGGCAA
Y
GTGGCCTTTTCTACCCTGGAAGGAAGGCCCAGCGCCTATAACTTTGACAATAGCCCTGTGCTGCAGGAATGGGTAACTGCCACTGACATCAGAGTAACTC
Celera SNP ID:            hCV3127532
SNP Position Transcript:  957
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,8)      total(C,8|T,1) ;JBIC-allele(T,245|C,1228)   total(C,1228|T,245)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 183, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11547):
TGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACATCGATCCCAATGCAGTTGGAAATTGCAATCGCTTGACGGGAGAATG
Y
CTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAAATCCCCTGGCTCCCAATCCAGCAGACAAATGCAAAG
Celera SNP ID:            hCV25624006
SNP Position Transcript:  2847
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 813, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11548):
GTGAGCTCTGTGATGATGGCTACTTTGGAGACCCCCTGGGTAGAAACGGCCCTGTGAGACTTTGCCGCCTGTGCCAGTGCAGTGACAACATCGATCCCAA
Y
GCAGTTGGAAATTGCAATCGCTTGACGGGAGAATGCCTGAAGTGCATCTATAACACTGCTGGCTTCTATTGTGACCGGTGCAAAGACGGATTTTTTGGAA
Celera SNP ID:            hCV3127518
SNP Position Transcript:  2811
SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,24)   caucasian(C,17|T,21)   total(C,29|T,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 801, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,25)   caucasian(C,20|T,20)   total(C,33|T,45)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 801, (N,AAC)   (N,AAT)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,3|T,5)      total(C,3|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 801, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11549):
AGAGGTGCCGAGAGAACTTCTTCCGCCTTGGCAACAATGAAGCCTGCTCTTCATGCCACTGTAGTCCTGTGGGCTCTCTAAGCACACAGTGTGATAGTTA
Y
GGCAGATGCAGCTGTAAGCCAGGAGTGATGGGGGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTT
Celera SNP ID:            hCV25624031
SNP Position Transcript:  1539
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 377, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11550):
ATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGCGAGCGC
W
GTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGCAACTGC
Celera SNP ID:            hCV25624023
SNP Position Transcript:  4605
SNP Source:               Applera
Population(Allele,Count): african american(T,38)   caucasian(A,1|T,37)   total(A,1|T,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1399, (A,GCA)   (A,GCT)   



Context             (SEQ ID NO:11551):
ATGCTGCCAAGGCCCTCGCTGAAGAAGCTGCAAAGAAGGGACGGGATACCTTACAAGAAGCTAATGACATTCTCAACAACCTGAAAGATTTTGATAGGCG
Y
GTGAACGATAACAAGACGGCCGCAGAGGAGGCACTAAGGAAGATTCCTGCCATCAACCAGACCATCACTGAAGCCAATGAAAAGACCAGAGAAGCCCAGC
Celera SNP ID:            hCV3127470
SNP Position Transcript:  4428
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,21)   caucasian(C,11|T,29)   total(C,20|T,50)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1340, (R,CGC)   (R,CGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,6)      total(C,3|T,6) ;no_pop(C,-|T,-)   JBIC-allele(T,537|C,888)   total(C,888|T,537)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1340, (R,CGC)   (R,CGT)      1340, (R,CGT)   (R,CGC)      



Context             (SEQ ID NO:11552):
AGAAGCAGGAGGCTGCCATCATGGACTATAACCGAGATATCGAGGAGATCATGAAGGACATTCGCAATCTGGAGGACATCAGGAAGACCTTACCATCTGG
Y
TGCTTCAACACCCCGTCCATTGAAAAGCCCTAGTGTCTTTAGGGCTGGAAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTG
Celera SNP ID:            hCV25624025
SNP Position Transcript:  5097
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1563, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:11553):
TAATAGGAAGTATGAACAAGCGAAGAACATCTCACAGGATCTGGAAAAACAAGCTGCCCGAGTACATGAGGAGGCCAAAAGGGCCGGTGACAAAGCTGTG
R
AGATCTATGCCAGCGTGGCTCAGCTGAGCCCTTTGGACTCTGAGACACTGGAGAATGAAGCAAATAACATAAAGATGGAAGCTGAGAATCTGGAACAACT
Celera SNP ID:            hCV25624017
SNP Position Transcript:  4096
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,38)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 1230, (K,AAG)   (E,GAG)   



Context             (SEQ ID NO:11554):
GGACAAATGTGACCGTTGCCAGCCTGGATTCCATTCTCTCACTGAAGCAGGATGCAGGCCATGCTCTTGTGATCCCTCTGGCAGCATAGATGAATGTAAT
R
TTGAAACAGGAAGATGTGTTTGCAAAGACAATGTCGAAGGCTTCAATTGTGAAAGATGCAAACCTGGATTTTTTAATCTGGAATCATCTAATCCTCGGGG
Celera SNP ID:            hCV11632431
SNP Position Transcript:  1672
SNP Source:               Celera;HGBASE
Population(Allele,Count): no_pop(G,2|A,9)      total(G,2|A,9) ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 422, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:11555):
AAGCCAATGAAAAGACCAGAGAAGCCCAGCAGGCCCTGGGCAGTGCTGCGGCGGATGCCACAGAGGCCAAGAACAAGGCCCATGAGGCGGAGAGGATCGC
R
AGCGCTGTCCAAAAGAATGCCACCAGCACCAAGGCAGAAGCTGAAAGAACTTTTGCAGAAGTTACAGATCTGGATAATGAGGTGAACAATATGTTGAAGC
Celera SNP ID:            hCV3127469
SNP Position Transcript:  4599
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,30)   caucasian(A,13|G,25)   total(A,19|G,55)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1397, (A,GCA)   (A,GCG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|G,7)      total(G,7|A,3) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 1397, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11556):
TCATTGCTCCTGCAAAGTTCTTGGGCAAGCAGGTGTTGAGTTATGGTCAGAACCTCTCCTTCTCCTTTCGAGTGGACAGGCGAGATACTCGCCTCTCTGC
M
GAAGACCTTGTGCTTGAGGGAGCTGGCTTAAGAGTATCTGTACCCTTGATCGCTCAGGGCAATTCCTATCCAAGTGAGACCACTGTGAAGTATGTCTTCA
Celera SNP ID:            hCV3127590
SNP Position Transcript:  2076
SNP Source:               Applera
Population(Allele,Count): african american(A,16|C,10)   caucasian(A,13|C,13)   total(A,29|C,23)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 556, (A,GCA)   (A,GCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,21|C,11)   caucasian(A,20|C,18)   total(A,41|C,29)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 556, (A,GCA)   (A,GCC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,7)      total(A,7|C,4) ;JBIC-allele(A,569|C,928)   total(A,569|C,928)   no_pop(A,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 556, (A,GCA)   (A,GCC)      



Context             (SEQ ID NO:11557):
GAGGCCCAGGATGTCAAAGATGTTGACCAGAATTTGATGGATCGCCTACAGAGAGTGAATAACACTCTGTCCAGCCAAATTAGCCGTTTACAGAATATCC
R
GAATACCATTGAAGAGACTGGAAACTTGGCTGAACAAGCGCGTGCCCATGTAGAGAACACAGAGCGGTTGATTGAAATCGCATCCAGAGAACTTGAGAAA
Celera SNP ID:            hCV3127498
SNP Position Transcript:  3662
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(A,4|G,36)   total(A,6|G,68)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 1085, (Q,CAG)   (R,CGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,1|G,5)      total(G,5|A,1) ;no_pop(A,-|G,-)   ;WIAF-CSNP-MITOGP(4(A,4|G,36)   total(G,36|A,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 1085, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:11558):
TTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAACTGC
R
GAAAGTGCCAGTGAATGCCTGCCCTGTGATTGCAATGGTCGATCCCAGGAATGCTACTTCGACCCTGAACTCTATCGTTCCACTGGCCATGGGGGCCACT
Celera SNP ID:            hCV25472253
SNP Position Transcript:  1299
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 297, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:11559):
ACGATCCCAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGAGTGTATGAAGAA
Y
GAATTTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGTGGAGGAGGGCAA
Celera SNP ID:            hCV25472254
SNP Position Transcript:  1194
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,5)   caucasian(C,40)   total(C,73|T,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 262, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11560):
GCTGGCGGCAGGCCGCCGCGGCGGGCTGTGCCCAGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAA
M
GCCGCCTTCAACGTGACTGTGGTGGCCACCAACACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTC
Celera SNP ID:            hCV27468996
SNP Position Transcript:  468
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1354, 20, (K,AAA)   (N,AAC)      



Context             (SEQ ID NO:11561):
GCGCACTCGGGCACGCGCTCGGAAGTCGGGGGTCGGCGCGGAGTGCAGGCTGCTCCCGGGGTAGGTGAGGGAAGCGCGGAGGCGG
S
GCGCGGGGGCAGTGGTCGGCGAGCAGCGCGGTCCTCGCTAGGGGCGCCCACCCGTCAGTCTCTCCGGCGCGAGCCGCCGCCACCGCCCGCGCCGGAGTCA
Celera SNP ID:            hCV26124235
SNP Position Transcript:  86
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1354, None   



Context             (SEQ ID NO:11562):
GGCAGGCCGCCGCGGCGGGCTGTGCCCAGGCAGCCATGGACGAGTGCACGGACGAGGGCGGGCGGCCGCAGCGCTGCATGCCCGAGTTCGTCAACGCCGC
Y
TTCAACGTGACTGTGGTGGCCACCAACACGTGTGGGACTCCGCCCGAGGAATACTGTGTGCAGACCGGGGTGACCGGGGTCACCAAGTCCTGTCACCTGT
Celera SNP ID:            hCV26124236
SNP Position Transcript:  474
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,3)   total(C,3|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 22, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11563):
ATGAAGTGTTTAACGATCCCAAAGTTCTCAAGTCCTATTATTATGCCATCTCTGATTTTGCTGTAGGTGGCAGATGTAAATGTAATGGACACGCAAGCGA
R
TGTATGAAGAACGAATTTGATAAGCTGGTGTGTAATTGCAAACATAACACATATGGAGTAGACTGTGAAAAGTGTCTTCCTTTCTTCAATGACCGGCCGT
Celera SNP ID:            hCV25472255
SNP Position Transcript:  1182
SNP Source:               Applera
Population(Allele,Count): african american(A,5|G,33)   caucasian(G,40)   total(A,5|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1354, 258, (E,GAA)   (E,GAG)   



Context             (SEQ ID NO:11564):
AAGGCAGCATCCCTCTGACAGGGGGGCAGTTGTGAGGCCACAGAGTGCCTTGACACAAAGATTACATTTTTCAGACCCCCACTCCTCTGCTGCTGTCCAT
S
ACTGTCCTTTTGAACCAGGAAAAGGTTTTATCTAATAAAGTGTCTCTTCCATTCACG
Celera SNP ID:            hCV8350027
SNP Position Transcript:  5246
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   JBIC-allele(C,602|G,887)   total(G,887|C,602)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1354, None   



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322960 - 83000099355295
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896814 - 197000069450078
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:658):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACT
CTGCGTACAAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGC
CCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGCMTCTTATC
ACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAG
ATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAGTACCACAGCAAGGTCAACCAGTGTACCCAAT
CACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTA
CACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGG
ACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGA
GTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCCCGG
AAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGA
CCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGC
TGCCTCAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGACTG
AGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCA
CAAGGCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCT
TCCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCT
TYGTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATT
AGTTGATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTACC
AAAATTTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAGAC
TGATTAAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCAAT
CATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGTTA
CTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACA
CTTAATAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTT
TCTTGAAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGTAT
ATATATTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATTAA
CAAAAGTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGTTT
CCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAGCT
TTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAAAT
GTGTTTGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAACC
AGCTGCCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAAAG
CTGAAACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACATTT
TTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTTTG
TAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1355):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPL
TPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPP
HHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYY
ELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITGEKKSAFATYKVKAAASAHPLQMEAY


SNP Information

Context             (SEQ ID NO:11565):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2302
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None   



Context             (SEQ ID NO:11566):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2918
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None   



Context             (SEQ ID NO:11567):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2770
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None   



Context             (SEQ ID NO:11568):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3378
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None   



Context             (SEQ ID NO:11569):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3867
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1355, None   



Context             (SEQ ID NO:11570):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1093
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1355, 202, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11571):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1526
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1355, 346, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT32266 - 83000099355242
Public Transcript Accession: NM_030756
Celera Protein:              hCP50791 - 197000069450076
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:659):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACT
CTGCGTACAAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGC
CCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGCMTCTTATC
ACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAG
ATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAGTACCACAGCAAGGTCAACCAGTGTACCCAAT
CACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTA
CACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGG
ACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGA
GTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCCCGG
AAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGA
CCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGACCTGAGCGCTCCTAAGAAATGCCGAGCGCGCTTTGGCCTTGA
TCAACAGAATAACTGGTGCGGCCCTTGCAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGCTGCCTCAGCCCACCCTCTTCAGATGGA
AGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGACTGAGCAGACCCAGCCTCTGTCGCTGTCCC
TGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCACAAGGCCTCCGCCCTCTGTCCCAACGG
GGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCTTCCTTACATTCCCACAGCTCCCTGGCC
GGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTTYGTTTATGGTTTTGTTTCACTTTTCT
TAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAGTTGATGTTTATCGAGTTCATTGGTC
AATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTACCAAAATTTTTATCAACAGCTGTTTAAAG
TCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAGACTGATTAAAAAACAAAAAGAAAAAAAAA
GCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTA
AGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAAC
AAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAACSCTGTTGGGC
CAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAGTTTTTTTCC
CCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGTATATATATTTTTGTTTCCCCTTTTTGACT
TTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATTAACAAAAGTTGCTTTAAAAGCCATTATGT
AAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCC
TACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTT
TTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAAATGTGTTTGGTAGCAGATTGTCCAGAAAG
CATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAACCAGCTGCCGCTTTTATGTACACATATTA
CATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAAAGCTGAAACCTGTTCATTCAGTGCCATTG
TAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAA
CAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAG
TATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1356):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPL
TPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPP
HHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYY
ELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPP
SSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSH
SSLAGTQPQPLSLVTKSLE


SNP Information

Context             (SEQ ID NO:11572):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2375
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None   



Context             (SEQ ID NO:11573):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2991
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None   



Context             (SEQ ID NO:11574):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2843
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None   



Context             (SEQ ID NO:11575):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3451
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None   



Context             (SEQ ID NO:11576):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3940
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1356, None   



Context             (SEQ ID NO:11577):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1093
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1356, 202, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11578):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1526
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1356, 346, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322961 - 83000099355153
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896816 - 197000069450080
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19208596..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:660):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACT
CTGCGTACAAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGC
CCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCAGCCCCCTCCCTTGCTGCACTCAGGGACATGACTGTCAGCACTTCTACCCCCCCTCAGAC
TTCACTGTCAGCACTCAAGTCTTCAGGGACATGAAAAGGAGCCACTCCTTACAAAAAGTTGGGGAGCCCTGGTGTATTGAGTCTAACAAAGTGCCAGTGG
TGCAGCACCCTCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGT
AGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTA
GGATGGTTAGTACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGT
CCAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTC
CCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTC
ATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCAC
TGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGG
AAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGACCTGAGCGCTCCTAAGAAATGCCGAGCGCGCTTTGGCCTTGATCAACAGAAT
AACTGGTGCGGCCCTTGCAGATGCAAATACTCCAAAGAAGTGTCGGGCACTGTTCGGGCT

Protein Sequence    (SEQ ID NO:1357):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSPLPCCTQGHDCQHFY
PPSDFTVSTQVFRDMKRSHSLQKVGEPWCIESNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQI
PHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKP
LNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNDLSAPKKCRARFGL
DQQNNWCGPCRCKYSKEVSGTVRA


SNP Information

Context             (SEQ ID NO:11579):
AAAAGGAGCCACTCCTTACAAAAAGTTGGGGAGCCCTGGTGTATTGAGTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1357, 249, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11580):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1667
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1357, 393, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322954 - 83000099355226
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896819 - 197000069450083
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:661):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCTATCTCCAGATGAAATGGCCACTGCTTGATG
TCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCC
TCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAA
ACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAG
TACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCC
TCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGAT
GTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATA
TGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGA
AGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAG
AAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGCTGCCTCAGCCCACCCTCTTC
AGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGACTGAGCAGACCCAGCCTCTGTCG
CTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCACAAGGCCTCCGCCCTCTGTC
CCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCTTCCTTACATTCCCACAGCTC
CCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTTYGTTTATGGTTTTGTTTCA
CTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAGTTGATGTTTATCGAGTTC
ATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTACCAAAATTTTTATCAACAGCTG
TTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAGACTGATTAAAAAACAAAAAGAA
AAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTA
AACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTA
CAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAACSCT
GTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAGTT
TTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGTATATATATTTTTGTTTCCCCTT
TTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATTAACAAAAGTTGCTTTAAAAGCC
ATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGG
GATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCT
GTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAAATGTGTTTGGTAGCAGATTGTC
CAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAACCAGCTGCCGCTTTTATGTACA
CATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAAAGCTGAAACCTGTTCATTCAGT
GCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGT
TTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGC
TGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1358):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPAD
VDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQES
SQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNY
GKKKKRKRDKQPGETNGEKKSAFATYKVKAAASAHPLQMEAY


SNP Information

Context             (SEQ ID NO:11581):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2182
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None   



Context             (SEQ ID NO:11582):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2798
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None   



Context             (SEQ ID NO:11583):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2650
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None   



Context             (SEQ ID NO:11584):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3258
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None   



Context             (SEQ ID NO:11585):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3747
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1358, None   



Context             (SEQ ID NO:11586):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1358, 179, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11587):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1358, 323, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322958 - 83000099355171
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896817 - 197000069450081
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19208596..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:662):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACT
CTGCGTACAAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGC
CCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGCMTCTTATC
ACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAG
ATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAGTACCACAGCAAGGTCAACCAGTGTACCCAAT
CACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTA
CACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGG
ACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGA
GTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCCCGG
AAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGA
CCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGACCTGAGCGCTCCTAAGAAATGCCGAGCGCGCTTTGGCCTTGA
TCAACAGAATAACTGGTGCGGCCCTTGCAGATGCAAATACTCCAAAGAAGTGTCGGGCACTGTTCGGGCT

Protein Sequence    (SEQ ID NO:1359):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPL
TPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPP
HHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYY
ELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQNNWCGPCRCKYSKEVSGTVRA


SNP Information

Context             (SEQ ID NO:11588):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1093
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1359, 202, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11589):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1526
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1359, 346, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322955 - 83000099355261
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896820 - 197000069450084
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:663):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCTATCTCCAGATGAAATGGCCACTGCTTGATG
TCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCC
TCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAA
ACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAG
TACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGCTTTCT
GTCTTCTAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAA
TCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATG
CATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCA
TGCACTGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAAC
TATGGAAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGCTGCCT
CAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGACTGAGCAG
ACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCACAAGG
CCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCTTCCTT
ACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTTYGTT
TATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAGTTG
ATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTACCAAAAT
TTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAGACTGATT
AAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCAATCATTT
TACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGTTACTTGT
TATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAA
TAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTG
AAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGTATATATA
TTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATTAACAAAA
GTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGTTTCCCCT
TTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAGCTTTCTC
CCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAAATGTGTT
TGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAACCAGCTG
CCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAAAGCTGAA
ACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGT
GAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATG
AATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1360):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPAD
VDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSSFLSSRFPPHMVPPHHTLHTTGIPHPAIVTPT
VKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWS
ARDNYGKKKKRKRDKQPGETNGEKKSAFATYKVKAAASAHPLQMEAY


SNP Information

Context             (SEQ ID NO:11590):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2197
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None   



Context             (SEQ ID NO:11591):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2813
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None   



Context             (SEQ ID NO:11592):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2665
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None   



Context             (SEQ ID NO:11593):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3273
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None   



Context             (SEQ ID NO:11594):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3762
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1360, None   



Context             (SEQ ID NO:11595):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1360, 179, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11596):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1472
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1360, 328, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322956 - 83000099354135
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896810 - 197000069450074
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:664):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCTATCTCCAGATGAAATGGCCACTGCTTGATG
TCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCC
TCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAA
ACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAG
TACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCC
TCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGAT
GTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATA
TGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGA
AGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAG
AAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGACCTGAGCGCTC
CTAAGAAATGCCGAGCGCGCTTTGGCCTTGATCAACAGAATAACTGGTGCGGCCCTTGCAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGG
CAGCTGCCTCAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAG
ACTGAGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCA
CCCACAAGGCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGAC
TTCTTCCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGC
TGCTTYGTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTA
CATTAGTTGATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTC
TACCAAAATTTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAA
AGACTGATTAAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAAC
CAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGAT
GTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTC
AACACTTAATAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCC
TTTTTCTTGAAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGT
GTATATATATTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCA
TTAACAAAAGTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTC
GTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTT
AGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACA
AAATGTGTTTGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAA
AACCAGCTGCCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTAT
AAAGCTGAAACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAAC
ATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATT
TTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1361):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPAD
VDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQES
SQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNY
GKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRD
AKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE


SNP Information

Context             (SEQ ID NO:11597):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2306
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None   



Context             (SEQ ID NO:11598):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2922
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None   



Context             (SEQ ID NO:11599):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2774
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None   



Context             (SEQ ID NO:11600):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3382
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None   



Context             (SEQ ID NO:11601):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3871
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1361, None   



Context             (SEQ ID NO:11602):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1361, 179, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11603):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1361, 323, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322963 - 83000099355277
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896813 - 197000069450077
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:665):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCTATCTCCAGATGAAATGGCCACTGCTTGATG
TCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCC
TCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAA
ACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAG
TACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCC
TCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGAT
GTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATA
TGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGA
AGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAG
AAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGATGCAAATACTC
CAAAGAAGTGTCGGGCACTGTTCGGGCTTGACCGACAGACTTTATGGTGCAAACCGTGCAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGG
CAGCTGCCTCAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAG
ACTGAGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCA
CCCACAAGGCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGAC
TTCTTCCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGC
TGCTTYGTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTA
CATTAGTTGATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTC
TACCAAAATTTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAA
AGACTGATTAAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAAC
CAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGAT
GTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTC
AACACTTAATAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCC
TTTTTCTTGAAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGT
GTATATATATTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCA
TTAACAAAAGTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTC
GTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTT
AGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACA
AAATGTGTTTGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAA
AACCAGCTGCCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTAT
AAAGCTGAAACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAAC
ATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATT
TTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1362):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPAD
VDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQES
SQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNY
GKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDANTPKKCRALFGLDRQTLWCKPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRD
AKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE


SNP Information

Context             (SEQ ID NO:11604):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2306
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None   



Context             (SEQ ID NO:11605):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2922
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None   



Context             (SEQ ID NO:11606):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2774
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None   



Context             (SEQ ID NO:11607):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3382
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None   



Context             (SEQ ID NO:11608):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3871
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1362, None   



Context             (SEQ ID NO:11609):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1362, 179, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11610):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1362, 323, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322957 - 83000099355206
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896811 - 197000069450075
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:666):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACT
CTGCGTACAAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGC
CCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCAGCCCCCTCCCTTGCTGCACTCAGGGACATGACTGTCAGCACTTCTACCCCCCCTCAGAC
TTCACTGTCAGCACTCAAGTCTTCAGGGACATGAAAAGGAGCCACTCCTTACAAAAAGTTGGGGAGCCCTGGTGTATTGAGTCTAACAAAGTGCCAGTGG
TGCAGCACCCTCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGT
AGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTA
GGATGGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCCTC
CCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGT
CGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATG
AAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGAAG
AGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAGAA
GAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGAACACAGCGAATGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAGACCTGAGCGCTCCT
AAGAAATGCCGAGCGCGCTTTGGCCTTGATCAACAGAATAACTGGTGCGGCCCTTGCAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCA
GCTGCCTCAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGAC
TGAGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACC
CACAAGGCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTT
CTTCCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTG
CTTYGTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACA
TTAGTTGATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTATTTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTA
CCAAAATTTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAATATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAG
ACTGATTAAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTCCAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCA
ATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGT
TACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAA
CACTTAATAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTT
TTTCTTGAAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTATATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGT
ATATATATTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAACCCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATT
AACAAAAGTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGAGTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGT
TTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAG
CTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAA
ATGTGTTTGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTATAAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAA
CCAGCTGCCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGACTTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAA
AGCTGAAACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTGTAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACAT
TTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTT
TGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1363):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSPLPCCTQGHDCQHFY
PPSDFTVSTQVFRDMKRSHSLQKVGEPWCIESNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQI
PHPLGWQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAF
MLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITD
LSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLL
AEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE


SNP Information

Context             (SEQ ID NO:11611):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2504
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None   



Context             (SEQ ID NO:11612):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  3120
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None   



Context             (SEQ ID NO:11613):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2972
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None   



Context             (SEQ ID NO:11614):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3580
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None   



Context             (SEQ ID NO:11615):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  4069
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1363, None   



Context             (SEQ ID NO:11616):
AAAAGGAGCCACTCCTTACAAAAAGTTGGGGAGCCCTGGTGTATTGAGTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1234
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1363, 249, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11617):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1655
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1363, 389, (K,AAG)   (N,AAT)      



Gene Number:                 256
Celera Gene:                 hCG40998 - 83000099354134
Celera Transcript:           hCT2322959 - 83000099355189
Public Transcript Accession: NM_030756
Celera Protein:              hCP1896818 - 197000069450082
Public Protein Accession:    NP_110383
Gene Symbol:                 TCF7L2
Protein Name:                transcription factor 7-like 2 (T-cell specific, HMG-box);TCF-4;TCF4
Celera Genomic Axis:         GA_x54KRFTF114(19201580..19419009)
Chromosome:                  Chr10
OMIM number:                 602228
OMIM Information:            TRANSCRIPTION FACTOR 7-LIKE 2;TCF7L2


Transcript Sequence (SEQ ID NO:667):
CTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAAT
CCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCC
CCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTC
CCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGG
GGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTG
AACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAG
AGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCTCG
CTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCC
TTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCTATCTCCAGATGAAATGGCCACTGCTTGATG
TCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCC
TCACCATGTCCACCCCCTCACGCMTCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAA
ACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAG
TACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCC
TCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGAT
GTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAKAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATA
TGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGGCGGAGGTGGCATGCACTGTCCAGAGA
AGAGCAAGCGAAATACTACGAGCTGGCCCGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTATGGAAAGAAGAAG
AAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATGACCTGAGCGCTCCTAAGAAATGCCGAGCGCGCTTTGGCCTTGATCAACAGAATAACTGGTGCG
GCCCTTGCAGGAGAAAAAAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGCTGCCTCAGCCCACCCTCTTCAGATGGAAGCTTACTAGATTCGCCTCC
CCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGACGCCAAGTCACAGACTGAGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTGGCC
CACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCACAAGGCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAG
CCGCTTTGCAGCCTGCCGCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCTTCCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCT
GTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTTYGTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCA
CCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAGTTGATGTTTATCGAGTTCATTGGTCAATATTTGACCCATTCTTAT
TTCAATTTCTCCTTTTAAATATGTAGATGAGAGAAGAACCTCATGATTCTACCAAAATTTTTATCAACAGCTGTTTAAAGTCTTTGTAGCGTTTAAAAAA
TATATATATATACATAACTGTTATGTAGTTCGGATAGCTTAGTTTTAAAAGACTGATTAAAAAACAAAAAGAAAAAAAAAGCAATTTTGAAGCAGCCCTC
CAGAAGGAGTTGGTTCTGTATTATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTG
CCGTTACTTTTTTTTTTTTTTTTCTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAA
TATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAACSCTGTTGGGCCAGTAGTATTTATTGCTTTA
GAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAGTTTTTTTCCCCCTTAGCATAAGCATCTTA
TATATAACAACTCATTTGTACAAGGTTTTTAAGTTTATATATAAAATGTGTATATATATTTTTGTTTCCCCTTTTTGACTTTTTTTTTTCTGTATGAAAC
CCAGATGTCACCAAATGGACATTAATAGTTGCATTAAGGATCAGTAGCATTAACAAAAGTTGCTTTAAAAGCCATTATGTAAAACAAGACTTGAAAATGA
GTGAGGGAATTTTAGCGACACTGTCTGAGCAGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACC
CGGACTGACCGTGTACAAAACTTTACGTGCSAAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTG
TGATGTTACATAGGTAGATTTGTATGTAGTTTTAATGTCACCTATAACAAAATGTGTTTGGTAGCAGATTGTCCAGAAAGCATTTTAAATGAAGAGGTAT
AAACCCTTAAGGGCCAAAATTCTGTATATTAGATTACTCTTAAACGAAAAACCAGCTGCCGCTTTTATGTACACATATTACATACGAGTAGGCAGCAGAC
TTTAAAAATAAAAAAAACCTAGGCATGTTGATGTTGCAAAATGCTGTATAAAGCTGAAACCTGTTCATTCAGTGCCATTGTAGTTGACATGAAGCGATTG
TAAAACTGTCTCCGATTTTTCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTC
CGTTTTATGCTCTTATTCCRAGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCT
GGATTAATAAAAGCAACTTAGTATGTGCAG

Protein Sequence    (SEQ ID NO:1364):
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPY
PGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPAD
VDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQES
SQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNY
GKKKKRKRDKQPGETNDLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKP
DPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE


SNP Information

Context             (SEQ ID NO:11618):
CCTTACATTCCCACAGCTCCCTGGCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAGCTTTAGCGTCGTGAACCCCGCTGCTT
Y
GTTTATGGTTTTGTTTCACTTTTCTTAATTTGCCCCCCACCCCCACCTTGAAAGGTTTTGTTTTGTACTCTCTTAATTTTGTGCCATGTGGCTACATTAG
Celera SNP ID:            hCV8898682
SNP Position Transcript:  2255
SNP Source:               Applera
Population(Allele,Count): african american(C,17|T,9)   caucasian(T,2)   total(C,17|T,11)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None   



Context             (SEQ ID NO:11619):
GTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGTTCTTTTGGGGGGAGGGGACGCTACTCAACACTTAATAGAATCACAAC
S
CTGTTGGGCCAGTAGTATTTATTGCTTTAGAGATTGCTTGTCGTACCTGTATGTCGTCCCTTTTTAAATATGTTTTCCTTTTTCTTGAAACTGTATAAAG
Celera SNP ID:            hCV27502130
SNP Position Transcript:  2871
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,46|G,1255)   total(G,1255|C,46) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None   



Context             (SEQ ID NO:11620):
ATTTGTATTAAATACGAGCTTGCGAACCAATCATTTTACATCTGGTTTTTAAACCGTAAGGGCACCATGAATGCAGTGCCGTTACTTTTTTTTTTTTTTT
T
CTGTGTGAAACAACTCTTATTGTGATGTTACTTGTTATTGTTTAAATGTACAGAAACAAAGGGTAAAAATGTGTTAATATACCTTGTTCCATGGTGTTGT
Celera SNP ID:            hCV27432550
SNP Position Transcript:  2723
SNP Source:               Celera
Population(Allele,Count): no_pop(-,9|T,9)   total(T,9|-,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None   



Context             (SEQ ID NO:11621):
AGCAGTGGGAACCATCTTCGTTTCCCCTTTGAACTCCCAGTGGGATGCCCTACCCTGCGCCCTTAGGACCCGGACTGACCGTGTACAAAACTTTACGTGC
S
AAAATTCTCAGTGAATTTAGCTTTCTCCCTCTTTTTGATGCTGTAATTTTTGTTCATCATGTTTTGCTGTGATGTTACATAGGTAGATTTGTATGTAGTT
Celera SNP ID:            hCV624915
SNP Position Transcript:  3331
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|C,9)      total(G,1|C,9) ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None   



Context             (SEQ ID NO:11622):
TCTCTGGTTTATTAAAATGCTAACTATAACATTTTTTGTGAATACTTTGAATGTTTCCTAACAGTTGTGATGTTACTGTTCCGTTTTATGCTCTTATTCC
R
AGTTCATTTTTAATGGTTTGGAAGCCATTTTTGTAATGAATAAATGTTCATGCTGTACAGTATCTGTAGCATGCCGTTCTGGATTAATAAAAGCAACTTA
Celera SNP ID:            hCV11692092
SNP Position Transcript:  3820
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1364, None   



Context             (SEQ ID NO:11623):
AGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGC
M
TCTTATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCAC
Celera SNP ID:            hCV27467752
SNP Position Transcript:  1024
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1364, 179, (H,CAT)   (P,CCT)      



Context             (SEQ ID NO:11624):
CCATAGTCACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAA
K
AAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCA
Celera SNP ID:            hCV16288395
SNP Position Transcript:  1457
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1364, 323, (K,AAG)   (N,AAT)      



Gene Number:                 257
Celera Gene:                 hCG41080 - 119000107771256
Celera Transcript:           hCT1966273 - 119000107771282
Public Transcript Accession: NM_016183
Celera Protein:              hCP1780768 - 197000069368178
Public Protein Accession:    NP_057267
Gene Symbol:                 C1orf33
Protein Name:                chromosome 1 open reading frame 33;dJ657E11.4
Celera Genomic Axis:         GA_x5YUV32W3P1(2381429..2389337)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:668):
ATGATGCGAGCGCATGCACCACCCAYCGCCGTCCCGGCATGCACCGCGCCGSGGGCTCCGYCTCCGCGGGACCACAGAGCTGGGATAGCGCGCGAGGSCC
TCGGTCGGACGGGACGCTCGGGATTCAGGGACTGCCTCGGCACACGGGAAGTTGCCCTACAGGCGCGGGAGAAAGCGCAGGCGGCGGCTTRGCAGGGAGA
GGCAGGCTGCAGTGCACATTGGGTCAGGCACACGCGAGGGGCAGCCCCCGAGGGCCGTCCCAGAGTCCCCCGCGCCGCCGGGGTCCTAACGGGGTGCACC
GTCTTCCGCCGCACGTGGATTCAGCGCGATGCCCAAATCCAAGCGCGACAAGAAAGGTGGGCGAAGGGGGAGTCGGGACCCTGSGGGGAGCTCCGTGGGC
TGGCTACCCAGCCTGCGGTGAGGGCTTCGGGGCGGCGGGGGCGCAGATTGGAACGCCAGGACATCCTCGAGGTGTTCCGCTGCCTCGCTGCGAGCTGGAA
TGGGGGCTTCGGGGCTGTAAAACCGCCAGAGGTGGCTGACGCCCGGTCGGGTCTGGGGAGCGGAGACTCGTTTTGCCTAGTTTCAGTCTCCTTAACCAAA
ACTGCCAAGAAAGGCTTGGAATTGAAACAAAACCTGATAGAAGAGCTTCGGAAATGTGTGGACACCTACAAGTACCTTTTCATCTTCTCTGTGGCCAACA
TGAGGAACAGCAAGCTGAAGGACATCCGGAACGCCTGGAAGCACAGCCGGATGTTCTTTGGCAAAAACAAGGTGATGATGGTGGCCTTGGGTCGGAGCCC
ATCTGATGAATACAAAGACAACCTGCAYCAGGTCAGCAAAAGGTTGAGGGGTGAGGTGGGTCTCCTGTTCACCAACCGCACAAAGGARGAGGTGAATGAG
TGGTTCACGAAATACACAGAAATGGACTACGCCCGAGCTGGTAACAAAGCAGCTTTCACTGTGAGCCTGGATCCAGGGCCCCTGGAGCAGTTCCCCCACT
CCATGGAGCCACAGCTCAGGCAGCTGGGCCTGCCCACCGCCCTCAAGAGAGGTGTGGTGACTCTGCTGTCTGACTACGAGGTGTGCAAGGAGGGCGATGT
GCTGACCCCAGAGCAGGCTCGCGTCCTGAAGCTTTTTGGGTATGAGATGGCTGAATTCAARGTGACCATCAAATACATGTGGGATTCACAGTCGGGAAGG
TTCCAGCAGATGGGAGACGACTTGCCAGAGAGCGCATCTGAGTCCACAGAAGAGTCAGACTCAGAAGATGATGACTGAAAGGGACTCGGGACTGAAGGTC
TCCTGGAAGCTTCTGGGTCTCACTGGACCATCAGGACTGCTGCCGCCCCTCTGGAGAGAGCAGCTTTTTATTTGTCTGTAGACAGGGAACATGATGGGCA
CTGACCTCCTGTAAAGAATAAACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAAAACTAGTTGGGCATAGTGGCATGTGCC
TGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCGTGAGTTGAGATTGGACCACTGCTCTCCAGCCTG
GGCAACAGAGTAAAACTCTGTCCCAAAAAAAAAAAAAGAATACAACCTTGCAGGATGTCTCTCCTGGAGACAGCAAGAGGGAGAGGAGGGAGAGGGCTCT
TTCTTAGAAAAGAGGCCTTTGGTGAGCCCAGAAGTTTGAAACCAGCCTGGGCAATTCAGCAAGATCCCGTCTCTAC

Protein Sequence    (SEQ ID NO:1365):
MMRAHAPPTAVPACTAPRAPPPRDHRAGIAREALGRTGRSGFRDCLGTREVALQAREKAQAAAWQGEAGCSAHWVRHTRGAAPEGRPRVPRAAGVLTGCT
VFRRTWIQRDAQIQARQERWAKGESGPWGELRGLATQPAVRASGRRGRRLERQDILEVFRCLAASWNGGFGAVKPPEVADARSGLGSGDSFCLVSVSLTK
TAKKGLELKQNLIEELRKCVDTYKYLFIFSVANMRNSKLKDIRNAWKHSRMFFGKNKVMMVALGRSPSDEYKDNLHQVSKRLRGEVGLLFTNRTKEEVNE
WFTKYTEMDYARAGNKAAFTVSLDPGPLEQFPHSMEPQLRQLGLPTALKRGVVTLLSDYEVCKEGDVLTPEQARVLKLFGYEMAEFKVTIKYMWDSQSGR
FQQMGDDLPESASESTEESDSEDDD


SNP Information

Context             (SEQ ID NO:11625):
TGGGTCGGAGCCCATCTGATGAATACAAAGACAACCTGCACCAGGTCAGCAAAAGGTTGAGGGGTGAGGTGGGTCTCCTGTTCACCAACCGCACAAAGGA
R
GAGGTGAATGAGTGGTTCACGAAATACACAGAAATGGACTACGCCCGAGCTGGTAACAAAGCAGCTTTCACTGTGAGCCTGGATCCAGGGCCCCTGGAGC
Celera SNP ID:            hCV8860741
SNP Position Transcript:  888
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,23)   caucasian(A,4|G,36)   total(A,11|G,59)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 296, (E,GAA)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 296, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:11626):
CGCGAGGCCCTCGGTCGGACGGGACGCTCGGGATTCAGGGACTGCCTCGGCACACGGGAAGTTGCCCTACAGGCGCGGGAGAAAGCGCAGGCGGCGGCTT
R
GCAGGGAGAGGCAGGCTGCAGTGCACATTGGGTCAGGCACACGCGAGGGGCAGCCCCCGAGGGCCGTCCCAGAGTCCCCCGCGCCGCCGGGGTCCTAACG
Celera SNP ID:            hCV2506969
SNP Position Transcript:  191
SNP Source:               Applera
Population(Allele,Count): african american(A,8|G,14)   caucasian(A,6|G,6)   total(A,14|G,20)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 64, (X,TAG)   (W,TGG)   

SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(A,2|G,2)      total(G,2|A,2) ;no_pop(A,-|G,-)   ;JBIC-allele(G,261|A,1230)   total(G,261|A,1230)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 64, (X,TAG)   (W,TGG)      



Context             (SEQ ID NO:11627):
ATGATGCGAGCGCATGCACCACCCACCGCCGTCCCGGCATGCACCGCGCCGCGGGCTCCGCCTCCGCGGGACCACAGAGCTGGGATAGCGCGCGAGG
S
CCTCGGTCGGACGGGACGCTCGGGATTCAGGGACTGCCTCGGCACACGGGAAGTTGCCCTACAGGCGCGGGAGAAAGCGCAGGCGGCGGCTTGGCAGGGA
Celera SNP ID:            hCV25941260
SNP Position Transcript:  98
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,38)   total(C,72|G,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 33, (A,GCC)   (G,GGC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,36)   total(C,72|G,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 33, (A,GCC)   (G,GGC)   



Context             (SEQ ID NO:11628):
ATGATGCGAGCGCATGCACCACCCA
Y
CGCCGTCCCGGCATGCACCGCGCCGCGGGCTCCGCCTCCGCGGGACCACAGAGCTGGGATAGCGCGCGAGGCCCTCGGTCGGACGGGACGCTCGGGATTC
Celera SNP ID:            hCV16188754
SNP Position Transcript:  26
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,38|T,2)   total(C,74|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 9, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,35|T,1)   total(C,73|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 9, (T,ACC)   (I,ATC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;JBIC-allele(T,49|C,1426)   total(C,1426|T,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 9, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:11629):
CTCTGCTGTCTGACTACGAGGTGTGCAAGGAGGGCGATGTGCTGACCCCAGAGCAGGCTCGCGTCCTGAAGCTTTTTGGGTATGAGATGGCTGAATTCAA
R
GTGACCATCAAATACATGTGGGATTCACAGTCGGGAAGGTTCCAGCAGATGGGAGACGACTTGCCAGAGAGCGCATCTGAGTCCACAGAAGAGTCAGACT
Celera SNP ID:            hCV25939437
SNP Position Transcript:  1161
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(A,6|G,34)   total(A,10|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 387, (K,AAA)   (K,AAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,33)   caucasian(A,6|G,34)   total(A,9|G,67)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 387, (K,AAA)   (K,AAG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 387, (K,AAA)   (K,AAG)      



Context             (SEQ ID NO:11630):
ATGATGCGAGCGCATGCACCACCCACCGCCGTCCCGGCATGCACCGCGCCG
S
GGGCTCCGCCTCCGCGGGACCACAGAGCTGGGATAGCGCGCGAGGCCCTCGGTCGGACGGGACGCTCGGGATTCAGGGACTGCCTCGGCACACGGGAAGT
Celera SNP ID:            hCV25941214
SNP Position Transcript:  52
SNP Source:               Applera
Population(Allele,Count): african american(C,21|G,15)   caucasian(C,34|G,4)   total(C,55|G,19)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 18, (R,CGG)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,23|G,15)   caucasian(C,32|G,4)   total(C,55|G,19)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 18, (R,CGG)   (G,GGG)   



Context             (SEQ ID NO:11631):
TCCTAACGGGGTGCACCGTCTTCCGCCGCACGTGGATTCAGCGCGATGCCCAAATCCAAGCGCGACAAGAAAGGTGGGCGAAGGGGGAGTCGGGACCCTG
S
GGGGAGCTCCGTGGGCTGGCTACCCAGCCTGCGGTGAGGGCTTCGGGGCGGCGGGGGCGCAGATTGGAACGCCAGGACATCCTCGAGGTGTTCCGCTGCC
Celera SNP ID:            hCV25935825
SNP Position Transcript:  384
SNP Source:               Applera
Population(Allele,Count): african american(G,4)   caucasian(C,4|G,4)   total(C,4|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 128, (C,TGC)   (W,TGG)   



Context             (SEQ ID NO:11632):
GGAACGCCTGGAAGCACAGCCGGATGTTCTTTGGCAAAAACAAGGTGATGATGGTGGCCTTGGGTCGGAGCCCATCTGATGAATACAAAGACAACCTGCA
Y
CAGGTCAGCAAAAGGTTGAGGGGTGAGGTGGGTCTCCTGTTCACCAACCGCACAAAGGAGGAGGTGAATGAGTGGTTCACGAAATACACAGAAATGGACT
Celera SNP ID:            hCV2506965
SNP Position Transcript:  828
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,4)   caucasian(C,28|T,2)   total(C,56|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 276, (H,CAC)   (H,CAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,4)   total(C,4|T,3) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1365, 276, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:11633):
ATGATGCGAGCGCATGCACCACCCACCGCCGTCCCGGCATGCACCGCGCCGCGGGCTCCG
Y
CTCCGCGGGACCACAGAGCTGGGATAGCGCGCGAGGCCCTCGGTCGGACGGGACGCTCGGGATTCAGGGACTGCCTCGGCACACGGGAAGTTGCCCTACA
Celera SNP ID:            hCV25941224
SNP Position Transcript:  61
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,38)   total(C,72|T,2)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 21, (P,CCT)   (S,TCT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,2)   caucasian(C,36)   total(C,70|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1365, 21, (P,CCT)   (S,TCT)   



Gene Number:                 258
Celera Gene:                 hCG41083 - 119000107776268
Celera Transcript:           hCT1955051 - 119000107776269
Public Transcript Accession: NM_015047
Celera Protein:              hCP1765602 - 197000069368157
Public Protein Accession:    NP_055862
Gene Symbol:                 KIAA0090
Protein Name:                KIAA0090 protein
Celera Genomic Axis:         GA_x5YUV32W3P1(2347384..2381459)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:669):
GGCGRTGGGTGGTGCATGCGCTCGCATCATGGCGGCTGAGTGGGCTTCTCGTTTCTGGCTTTGGGCTACGCTGCTGATTCCTGCGGCCGCGGTCTACGAA
GACCAAGTGGGCAAGTTTGATTGGAGACAGCAATATGTTGGGAAGGTCAAGTTTGCCTCCTTGGAATTTTCCCCTGGATCCAAGAAGTTGGTTGTAGCCA
CAGAGAAGAATGTGATTGCAGCATTAAATTCCCGAACTGGGGAGATCTTGTGGCGCCATGTTGACAAGGGCACGGCAGAAGGGGCTGTGGATGCCATGCT
GCTGCACGGACAGGATGTGATCACTGTGTCCAATGGAGGCCGAATCATGCGTTCCTGGGAGACTAACATYGGGGGCCTGAACTGGGAGATAACCCTGGAC
AGTGGCAGTTTCCAGGCACTTGGGCTGGTTGGCCTGCAGGAGTCTGTAAGGTACATCGCAGTCCTGAAGAAGACTACACTTGCCCTCCATCACCTCTCCA
GTGGGCACCTCAAGTGGGTGGAACATCTCCCAGAAAGTGACAGCATCCACTACCAGATGGTGTATTCTTACGGCTCTGGGGTGGTGTGGGCCCTCGGAGT
TGTTCCCTTCAGCCATGTGAACATTGTCAAGTTTAATGTGGAAGATGGAGAGATTGTTCAGCAGGTTAGGGTTTCAACTCCGTGGCTGCAGCACCTGTCT
GGAGCCTGTGGTGTGGTGGATGARGCTGTCCTGGTGTGTCCTGACCCGAGCTCACGTTCCCTCCAAACTTTGGCTCTGGAGACGGAATGGGAGTTGAGAC
AGATCCCACTGCAGTCTCTCGACTTAGAATTTGGAAGTGGATTCCAACCCCGGGTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTT
CTTCCTGCACTYGTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATGGAAYGCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTT
GCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGAAGTGCAGAAAASTAGCARTTCTGAAGATGGGTCAATGGGGAGCTTTTCGG
AGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATACCTCGTGGAGACAGGTCGGCGGCTGCTGGACACCACGAT
AACATTTAGCCTGGAACAGAGCGGCACTCGGCCTGAGCGGCTGTATATCCAGGTGTTCTTGAAGAAGGATGACTCAGTGGGCTACCGGGCTTTGGTGCAG
ACAGAGGATCATCTGCTACTTTTCCTGCAGCAGTTGGCAGGGAAGGTGGTGCTGTGGAGCCGTGAGGAGTCCCTGGCAGAAGTGGTGTGCCTAGAGATGG
TGGACCTCCCCCTGACTGGGGCACAGGCCGAGCTGGAAGGAGAATTTGGCAAAAAGGCAGATGGCTTGCTGGGGATGTTCCTGAAACGCCTCTCGTCTCA
GCTTATCCTGCTGCAAGCATGGACTTCCCACCTCTGGAAAATGTTTTATGATGCTCGGAAGCCCCGGAGTCAGATTAAGAATGAGATCAACATTGACACC
CTGGCCAGAGATGAATTCAACCTCCAGAAGATGATGGTGATGGTAACAGCCTCAGGCAAGCTTTTTGGCATTGAGAGCAGCTCTGGCACCATCCTGTGGA
AACAGTATCTACCCAATGTCAAGCCAGACTCCTCCTTTAAACTGATGGTCCAGAGAACTACTGCTCATTTCCCCCATCCCCCACAGTGCACCCTGCTGGT
GAAGGACAAGGAGTCGGGAATGAGTTCTCTGTATGTCTTCAATCCCATTTTTGGGAAGTGGAGTCAGGTAGCTCCCCCAGTGCTGAAGCGCCCCATCTTG
CAGTCCTTGCTTCTCCCAGTCATGGATCAAGACTACGCCAAGGTGTTGCTGTTGATAGATGATGAATACAAGGTCACAGCTTTTCCAGCCACTCGGAATG
TCTTGCGACAGCTACATGAGCTTGCCCCTTCCATCYTCTTCTATTTGGTGGATGCAGAGCAGGGACGGCTGTGTGGATATCGGCTTCGAAAGGATCTCAC
CACTGAGCTGAGTTGGGAGCTGACCATTCCCCCAGAAGTACAGCGGATCGTCAAGGTGAAGGGGAAACGCAGCAGTGAGCACGTTCATTCCCAGGGCCGT
GTGATGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGTRGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTG
GCATYTTCCTCRTTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGT
GGTGTACCAGTACTGGAACACCAAGGCTCGGCGCAACGAGTTTACCGTACTGGAGCTCTATGAGGGCACTGAGCAATACAACGCCACCGCCTTCAGCTCC
CTGGACCGCCCCCAGCTGCCCCAGGTCCTCCAGCAGTCCTATATCTTCCCGTCCTCCATCAGTGCCATGGAGGCCACCATCACCGAACGGGGCATCACCA
GCCGACACCTGCTGATTGGACTACCTTCTGGAGCAATTCTTTCCCTTCCTAAGGCTTTGCTGGATCCCCGCCGCCCCGAGATCCCAACAGAACAAAGCAG
AGAGGAGAACTTAATCCCGTATTCTCCAGATGTACAGATACACGCAGAGCGATTCATCAACTATAACCAGACAGTTTCTCGAATGCGAGGTATCTACACA
GCTCCCTCGGGTCTGGAGTCCACTTGTTTRGTTGTGGCCTATGGTTTGGACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGG
ATGACTATGACTAYGTGTTAATCAGCAGCGTCCTCTTTGGCCTGGTTTTTGCCACCATGATCACTAAGAGACTGGCACAGGTGAAGCTCCTGAATCGGGC
CTGGCGATAAAGAACAAAGACTGTGCCTAAAAGTGGAGAGCCAGGGGAGTGTGGGTCAGATAAGCAGCTACAGCTGCAGTTTGGTGGATTGGTGGAGTAT
GTGTGTGTGTCAGTGCTCAGCTAAGAACTGTAGGGAAGATGGATGACCTTCACGCAGAACTCCTTTTGGGATATACATGATGCAGAAAGGATCCTACATG
GAGAGAGACAGAACTCTCTCAGCTGACACTCTCAGAGATTCCTGATGGGCTTTCTCTTGAAGTCCAAAGGCGTCTGCATTGTTTCCTTTCTTTGCCCATC
CATGAATGTTCTGTTTTGTTTTTTTTAATAAGAATTCCGGCTGATTTTTGTGAGGCCTGTTTAAATTGACTTTACTTTGCCTTTTGTGTTTCTCAATTTT
ATCTAGAAATCTTTCTGACTTTTTCCATCTCTTGCTTCAAAGTAAGAGGGGAACTCTCCTTGCCGACTCCACCTTATAGGTACATTTGGTGTTTTGCACT
GGGAAGAAATAGGATCCATCCTTAGCTGAGGCTTGAGGACTGATCCAGCCTCTCATGGCTTCCCTCCAAAGTAACTTAGGGTTGAGGGATCTATATGTGA
TGTCAAAACTTACTTTAAACCTCTAGTTTCGTGCTGTCATTTATTAGGCTGGGCCACCAAATCTTTGTTTCAATTTATCAGAAGCCAAGTGCATACTAGC
GTCTTGTTTGTTGCCCATTGCCTATACTTTTCACCTGAGATGTGTGAGTTGGGGCCTTTTAAAAACTACTGAATTGTCTGAGCCTTGAAGACATTTCCAG
GGAGAAGAGATAATCTCTCATTTCACCCACAGGCTGGTCTAATCATAACCTAGTTAAAGATGTCCTTGTTTAAGAACCCCATTATTTATTTTTAGTTTTT
AATATAAATTAACATGTGGGTCATTATATTTCTCCTTAAATGAGGAAATTTTAAATTTTATTGATCTAACCTTTGAAGCTTTAAAAAAGGAGAAAGAGGG
TAGGGGTGGGAAACTGGCATACTGTGTGTATAGCACTGCCGATTGGCTAGGCCMCTGTGTCTCTGCTACAAATTAAAGAAATCCTAAAAGTTTTCCTTGG
TCATAGAGTTGGGGAATGACAGAATTTTTCTTTGTTGTGAAATGTATGTACAGAGTAGACCATCTCTAGCCCTGTGGTGAAAGAGGTACACTCGAATGTT
TGCATAAAGCAAGTGACAAATGACACTGTTTAAGTCCTCTTTTGTGTCTTAGAAGATCATTTTGAGGCTATTTTCACATTAGAGGGGATAAAAGCAGTGA
AGACATGGAGTAAGTGTATTTTATTTTAGTAAGGAAAGGTCAGTTTAATCATATATGGGTTGGTTAGGTTATCTAAAAATTTGTCATCTTTCTATGGTCA
TATGCTGATGGTAGATTATGGCAGAGAAGGAAGAGGAAATGACAACCATTTTATTAATTGTCAGTTTGATATTGAGTGACTGAATGTCTAAGAATCTCCA
GAAAAAAACAGGCATCTATCATCCTGACCCAAGGCATATTTTAACATAACCTGGGAGAAGAGAGTTAAGTACAAGTTAAAAAAAATTCTGCCCTAGTTTT
GAGAAAGCCTGGCTGGAATTCTGACTGTCTTACATACATATGTGCAAGGTTAGCCTGCAAGATTCTAGTTTTTATTTACCAGTGTGCCAGAATCTGAAAC
AAGCTACTGGGAGGGAAGGTATTTGTCCTTTAGTAAAATTCCCTGTATTTCAGCTGTAATCAAAGTTACCTCAAAGCAGGTGCTTTTTTTTTTTTTGAGA
CAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTC

Protein Sequence    (SEQ ID NO:1366):
MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEKNVIAALNSRTGEILWRHVDKGTAEGAVDAMLLHGQDVITV
SNGGRIMRSWETNIGGLNWEITLDSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYSYGSGVVWALGVVPFSHVNIV
KFNVEDGEIVQQVRVSTPWLQHLSGACGVVDEAVLVCPDPSSRSLQTLALETEWELRQIPLQSLDLEFGSGFQPRVLPTQPNPVDASRAQFFLHLSPSHY
ALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVQKSSSSEDGSMGSFSEKSSSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGT
RPERLYIQVFLKKDDSVGYRALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGLLGMFLKRLSSQLILLQAWTS
HLWKMFYDARKPRSQIKNEINIDTLARDEFNLQKMMVMVTASGKLFGIESSSGTILWKQYLPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKESGMSS
LYVFNPIFGKWSQVAPPVLKRPILQSLLLPVMDQDYAKVLLLIDDEYKVTAFPATRNVLRQLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTI
PPEVQRIVKVKGKRSSEHVHSQGRVMGDRSVLYKSLNPNLLAVVTESTDAHHERTFIGIFLIDGVTGRIIHSSVQKKAKGPVHIVHSENWVVYQYWNTKA
RRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIFPSSISAMEATITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSP
DVQIHAERFINYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPSKQFDVLKDDYDYVLISSVLFGLVFATMITKRLAQVKLLNRAWR


SNP Information

Context             (SEQ ID NO:11634):
TGGAGTCCACTTGTTTGGTTGTGGCCTATGGTTTGGACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTATGACTA
Y
GTGTTAATCAGCAGCGTCCTCTTTGGCCTGGTTTTTGCCACCATGATCACTAAGAGACTGGCACAGGTGAAGCTCCTGAATCGGGCCTGGCGATAAAGAA
Celera SNP ID:            hCV25932323
SNP Position Transcript:  2914
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,39|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 962, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11635):
TTGTCAAGTTTAATGTGGAAGATGGAGAGATTGTTCAGCAGGTTAGGGTTTCAACTCCGTGGCTGCAGCACCTGTCTGGAGCCTGTGGTGTGGTGGATGA
R
GCTGTCCTGGTGTGTCCTGACCCGAGCTCACGTTCCCTCCAAACTTTGGCTCTGGAGACGGAATGGGAGTTGAGACAGATCCCACTGCAGTCTCTCGACT
Celera SNP ID:            hCV2506977
SNP Position Transcript:  724
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,17|G,23)   total(A,27|G,51)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 232, (E,GAA)   (E,GAG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,5)   total(G,5|A,4) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 232, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:11636):
GCACGGCAGAAGGGGCTGTGGATGCCATGCTGCTGCACGGACAGGATGTGATCACTGTGTCCAATGGAGGCCGAATCATGCGTTCCTGGGAGACTAACAT
Y
GGGGGCCTGAACTGGGAGATAACCCTGGACAGTGGCAGTTTCCAGGCACTTGGGCTGGTTGGCCTGCAGGAGTCTGTAAGGTACATCGCAGTCCTGAAGA
Celera SNP ID:            hCV25936566
SNP Position Transcript:  370
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,40)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 114, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 114, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:11637):
ATGTACAGATACACGCAGAGCGATTCATCAACTATAACCAGACAGTTTCTCGAATGCGAGGTATCTACACAGCTCCCTCGGGTCTGGAGTCCACTTGTTT
R
GTTGTGGCCTATGGTTTGGACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTATGACTACGTGTTAATCAGCAGCG
Celera SNP ID:            hCV25933127
SNP Position Transcript:  2830
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 934, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:11638):
AAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGAAGTGCAGAAAAGTAGCA
R
TTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATACCTCGTG
Celera SNP ID:            hCV8860726
SNP Position Transcript:  1068
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,6|G,34)   total(A,16|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 347, (N,AAT)   (S,AGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 347, (N,AAT)   (S,AGT)      347, (S,AGT)   (N,AAT)      



Context             (SEQ ID NO:11639):
CCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGTGGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATCTTCCTC
R
TTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTGTACCAGTA
Celera SNP ID:            hCV25933216
SNP Position Transcript:  2312
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,38)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 762, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:11640):
TTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGAAGTGCAGAAAA
S
TAGCAGTTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATAC
Celera SNP ID:            hCV8860727
SNP Position Transcript:  1062
SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,14)   caucasian(C,19|G,21)   total(C,43|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 345, (T,ACT)   (S,AGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 345, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:11641):
CAGTCTCTCGACTTAGAATTTGGAAGTGGATTCCAACCCCGGGTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACT
Y
GTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATGGAACGCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGG
Celera SNP ID:            hCV27269110
SNP Position Transcript:  912
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 295, (S,TCG)   (L,TTG)      295, (L,TTG)   (S,TCG)      



Context             (SEQ ID NO:11642):
GGCG
R
TGGGTGGTGCATGCGCTCGCATCATGGCGGCTGAGTGGGCTTCTCGTTTCTGGCTTTGGGCTACGCTGCTGATTCCTGCGGCCGCGGTCTACGAAGACCA
Celera SNP ID:            hCV16188754
SNP Position Transcript:  5
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,2|G,38)   total(A,2|G,74)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1366, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1366, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,49|G,1426)   total(G,1426|A,49)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1366, None   



Context             (SEQ ID NO:11643):
CGCCAAGGTGTTGCTGTTGATAGATGATGAATACAAGGTCACAGCTTTTCCAGCCACTCGGAATGTCTTGCGACAGCTACATGAGCTTGCCCCTTCCATC
Y
TCTTCTATTTGGTGGATGCAGAGCAGGGACGGCTGTGTGGATATCGGCTTCGAAAGGATCTCACCACTGAGCTGAGTTGGGAGCTGACCATTCCCCCAGA
Celera SNP ID:            hCV15878720
SNP Position Transcript:  2036
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,9|T,1492)   total(C,9|T,1492) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 670, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:11644):
GTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACTTGTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATGGAA
Y
GCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGAAGTG
Celera SNP ID:            hCV25935724
SNP Position Transcript:  954
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 309, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11645):
AATTTTATTGATCTAACCTTTGAAGCTTTAAAAAAGGAGAAAGAGGGTAGGGGTGGGAAACTGGCATACTGTGTGTATAGCACTGCCGATTGGCTAGGCC
M
CTGTGTCTCTGCTACAAATTAAAGAAATCCTAAAAGTTTTCCTTGGTCATAGAGTTGGGGAATGACAGAATTTTTCTTTGTTGTGAAATGTATGTACAGA
Celera SNP ID:            hCV8860710
SNP Position Transcript:  4054
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1366, None   



Context             (SEQ ID NO:11646):
TGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGTGGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCAT
Y
TTCCTCATTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTGT
Celera SNP ID:            hCV8860713
SNP Position Transcript:  2305
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,38)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 759, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1366, 759, (I,ATC)   (I,ATT)      759, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:11647):
TGAAGGGGAAACGCAGCAGTGAGCACGTTCATTCCCAGGGCCGTGTGATGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGT
R
GTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATCTTCCTCATTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGA
Celera SNP ID:            hCV8860714
SNP Position Transcript:  2257
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,38)   total(A,4|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 743, (V,GTA)   (V,GTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1366, 743, (V,GTA)   (V,GTG)      743, (V,GTG)   (V,GTA)      



Gene Number:                 258
Celera Gene:                 hCG41083 - 119000107776268
Celera Transcript:           hCT32353 - 119000107776296
Public Transcript Accession: NM_015047
Celera Protein:              hCP50912 - 197000069368158
Public Protein Accession:    NP_055862
Gene Symbol:                 KIAA0090
Protein Name:                KIAA0090 protein
Celera Genomic Axis:         GA_x5YUV32W3P1(2347384..2381459)
Chromosome:                  Chr1
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:670):
GGCGRTGGGTGGTGCATGCGCTCGCATCATGGCGGCTGAGTGGGCTTCTCGTTTCTGGCTTTGGGCTACGCTGCTGATTCCTGCGGCCGCGGTCTACGAA
GACCAAGTGGGCAAGTTTGATTGGAGACAGCAATATGTTGGGAAGGTCAAGTTTGCCTCCTTGGAATTTTCCCCTGGATCCAAGAAGTTGGTTGTAGCCA
CAGAGAAGAATGTGATTGCAGCATTAAATTCCCGAACTGGGGAGATCTTGTGGCGCCATGTTGACAAGGGCACGGCAGAAGGGGCTGTGGATGCCATGCT
GCTGCACGGACAGGATGTGATCACTGTGTCCAATGGAGGCCGAATCATGCGTTCCTGGGAGACTAACATYGGGGGCCTGAACTGGGAGATAACCCTGGAC
AGTGGCAGTTTCCAGGCACTTGGGCTGGTTGGCCTGCAGGAGTCTGTAAGGTACATCGCAGTCCTGAAGAAGACTACACTTGCCCTCCATCACCTCTCCA
GTGGGCACCTCAAGTGGGTGGAACATCTCCCAGAAAGTGACAGCATCCACTACCAGATGGTGTATTCTTACGGCTCTGGGGTGGTGTGGGCCCTCGGAGT
TGTTCCCTTCAGCCATGTGAACATTGTCAAGTTTAATGTGGAAGATGGAGAGATTGTTCAGCAGTCTCTCGACTTAGAATTTGGAAGTGGATTCCAACCC
CGGGTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACTYGTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATG
GAAYGCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGA
AGTGGTGAGTATTGAGAACAACAGTCAGCACTTGGGATTTTCCTTCCTGGTCTCCACTAGGAACCCTGAAAATCAGAAGTCTGGGCACATTGACCTGCAG
AAAASTAGCARTTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACC
TATACCTCGTGGAGACAGGTCGGCGGCTGCTGGACACCACGATAACATTTAGCCTGGAACAGAGCGGCACTCGGCCTGAGCGGCTGTATATCCAGGTGTT
CTTGAAGAAGGATGACTCAGTGGGCTACCGGGCTTTGGTGCAGACAGAGGATCATCTGCTACTTTTCCTGCAGCAGTTGGCAGGGAAGGTGGTGCTGTGG
AGCCGTGAGGAGTCCCTGGCAGAAGTGGTGTGCCTAGAGATGGTGGACCTCCCCCTGACTGGGGCACAGGCCGAGCTGGAAGGAGAATTTGGCAAAAAGG
CAGATGGCTTGCTGGGGATGTTCCTGAAACGCCTCTCGTCTCAGCTTATCCTGCTGCAAGCATGGACTTCCCACCTCTGGAAAATGTTTTATGATGCTCG
GAAGCCCCGGAGTCAGATTAAGAATGAGATCAACATTGACACCCTGGCCAGAGATGAATTCAACCTCCAGAAGATGATGGTGATGGTAACAGCCTCAGGC
AAGCTTTTTGGCATTGAGAGCAGCTCTGGCACCATCCTGTGGAAACAGTATCTACCCAATGTCAAGCCAGACTCCTCCTTTAAACTGATGGTCCAGAGAA
CTACTGCTCATTTCCCCCATCCCCCACAGTGCACCCTGCTGGTGAAGGACAAGTCCTTGCTTCTCCCAGTCATGGATCAAGACTACGCCAAGGTGTTGCT
GTTGATAGATGATGAATACAAGGTCACAGCTTTTCCAGCCACTCGGAATGTCTTGCGACAGCTACATGAGCTTGCCCCTTCCATCYTCTTCTATTTGGTG
GATGCAGAGCAGGGACGGCTGTGTGGATATCGGCTTCGAAAGGATCTCACCACTGAGCTGAGTTGGGAGCTGACCATTCCCCCAGAAGTACAGCGGATCG
TCAAGGTGAAGGGGAAACGCAGCAGTGAGCACGTTCATTCCCAGGGCCGTGTGATGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCT
GGCCGTRGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATYTTCCTCRTTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTG
CAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTGTACCAGTACTGGAACACCAAGGCTCGGCGCAACGAGTTTACCGTAC
TGGAGCTCTATGAGGGCACTGAGCAATACAACGCCACCGCCTTCAGCTCCCTGGACCGCCCCCAGCTGCCCCAGGTCCTCCAGCAGTCCTATATCTTCCC
GTCCTCCATCAGTGCCATGGAGGCCACCATCACCGAACGGGGCATCACCAGCCGACACCTGCTGATTGGACTACCTTCTGGAGCAATTCTTTCCCTTCCT
AAGGCTTTGCTGGATCCCCGCCGCCCCGAGATCCCAACAGAACAAAGCAGAGAGGAGAACTTAATCCCGTATTCTCCAGATGTACAGATACACGCAGAGC
GATTCATCAACTATAACCAGACAGTTTCTCGAATGCGAGGTATCTACACAGCTCCCTCGGGTCTGGAGTCCACTTGTTTRGTTGTGGCCTATGGTTTGGA
CATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTATGACTAYGTGTTAATCAGCAGCGTCCTCTTTGGCCTGGTTTTT
GCCACCATGATCACTAAGAGACTGGCACAGGTGAAGCTCCTGAATCGGGCCTGGCGATAAAGAACAAAGACTGTGCCTAAAAGTGGAGAGCCAGGGGAGT
GTGGGTCAGATAAGCAGCTACAGCTGCAGTTTGGTGGATTGGTGGAGTATGTGTGTGTGTCAGTGCTCAGCTAAGAACTGTAGGGAAGATGGATGACCTT
CACGCAGAACTCCTTTTGGGATATACATGATGCAGAAAGGATCCTACATGGAGAGAGACAGAACTCTCTCAGCTGACACTCTCAGAGATTCCTGATGGGC
TTTCTCTTGAAGTCCAAAGGCGTCTGCATTGTTTCCTTTCTTTGCCCATCCATGAATGTTCTGTTTTGTTTTTTTTAATAAGAATTCCGGCTGATTTTTG
TGAGGCCTGTTTAAATTGACTTTACTTTGCCTTTTGTGTTTCTCAATTTTATCTAGAAATCTTTCTGACTTTTTCCATCTCTTGCTTCAAAGTAAGAGGG
GAACTCTCCTTGCCGACTCCACCTTATAGGTACATTTGGTGTTTTGCACTGGGAAGAAATAGGATCCATCCTTAGCTGAGGCTTGAGGACTGATCCAGCC
TCTCATGGCTTCCCTCCAAAGTAACTTAGGGTTGAGGGATCTATATGTGATGTCAAAACTTACTTTAAACCTCTAGTTTCGTGCTGTCATTTATTAGGCT
GGGCCACCAAATCTTTGTTTCAATTTATCAGAAGCCAAGTGCATACTAGCGTCTTGTTTGTTGCCCATTGCCTATACTTTTCACCTGAGATGTGTGAGTT
GGGGCCTTTTAAAAACTACTGAATTGTCTGAGCCTTGAAGACATTTCCAGGGAGAAGAGATAATCTCTCATTTCACCCACAGGCTGGTCTAATCATAACC
TAGTTAAAGATGTCCTTGTTTAAGAACCCCATTATTTATTTTTAGTTTTTAATATAAATTAACATGTGGGTCATTATATTTCTCCTTAAATGAGGAAATT
TTAAATTTTATTGATCTAACCTTTGAAGCTTTAAAAAAGGAGAAAGAGGGTAGGGGTGGGAAACTGGCATACTGTGTGTATAGCACTGCCGATTGGCTAG
GCCMCTGTGTCTCTGCTACAAATTAAAGAAATCCTAAAAGTTTTCCTTGGTCATAGAGTTGGGGAATGACAGAATTTTTCTTTGTTGTGAAATGTATGTA
CAGAGTAGACCATCTCTAGCCCTGTGGTGAAAGAGGTACACTCGAATGTTTGCATAAAGCAAGTGACAAATGACACTGTTTAAGTCCTCTTTTGTGTCTT
AGAAGATCATTTTGAGGCTATTTTCACATTAGAGGGGATAAAAGCAGTGAAGACATGGAGTAAGTGTATTTTATTTTAGTAAGGAAAGGTCAGTTTAATC
ATATATGGGTTGGTTAGGTTATCTAAAAATTTGTCATCTTTCTATGGTCATATGCTGATGGTAGATTATGGCAGAGAAGGAAGAGGAAATGACAACCATT
TTATTAATTGTCAGTTTGATATTGAGTGACTGAATGTCTAAGAATCTCCAGAAAAAAACAGGCATCTATCATCCTGACCCAAGGCATATTTTAACATAAC
CTGGGAGAAGAGAGTTAAGTACAAGTTAAAAAAAATTCTGCCCTAGTTTTGAGAAAGCCTGGCTGGAATTCTGACTGTCTTACATACATATGTGCAAGGT
TAGCCTGCAAGATTCTAGTTTTTATTTACCAGTGTGCCAGAATCTGAAACAAGCTACTGGGAGGGAAGGTATTTGTCCTTTAGTAAAATTCCCTGTATTT
CAGCTGTAATCAAAGTTACCTCAAAGCAGGTGCTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGC
TC

Protein Sequence    (SEQ ID NO:1367):
MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEKNVIAALNSRTGEILWRHVDKGTAEGAVDAMLLHGQDVITV
SNGGRIMRSWETNIGGLNWEITLDSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYSYGSGVVWALGVVPFSHVNIV
KFNVEDGEIVQQSLDLEFGSGFQPRVLPTQPNPVDASRAQFFLHLSPSHYALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVVSIENNSQ
HLGFSFLVSTRNPENQKSGHIDLQKSSSSEDGSMGSFSEKSSSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGTRPERLYIQVFLKKDDSVGY
RALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGLLGMFLKRLSSQLILLQAWTSHLWKMFYDARKPRSQIKNE
INIDTLARDEFNLQKMMVMVTASGKLFGIESSSGTILWKQYLPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKSLLLPVMDQDYAKVLLLIDDEYKVT
AFPATRNVLRQLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTIPPEVQRIVKVKGKRSSEHVHSQGRVMGDRSVLYKSLNPNLLAVVTESTDA
HHERTFIGIFLIDGVTGRIIHSSVQKKAKGPVHIVHSENWVVYQYWNTKARRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIFPSSISAMEAT
ITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSPDVQIHAERFINYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPS
KQFDVLKDDYDYVLISSVLFGLVFATMITKRLAQVKLLNRAWR


SNP Information

Context             (SEQ ID NO:11648):
TGGAGTCCACTTGTTTGGTTGTGGCCTATGGTTTGGACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTATGACTA
Y
GTGTTAATCAGCAGCGTCCTCTTTGGCCTGGTTTTTGCCACCATGATCACTAAGAGACTGGCACAGGTGAAGCTCCTGAATCGGGCCTGGCGATAAAGAA
Celera SNP ID:            hCV25932323
SNP Position Transcript:  2764
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,39|T,1)   total(C,73|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 912, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11649):
GCACGGCAGAAGGGGCTGTGGATGCCATGCTGCTGCACGGACAGGATGTGATCACTGTGTCCAATGGAGGCCGAATCATGCGTTCCTGGGAGACTAACAT
Y
GGGGGCCTGAACTGGGAGATAACCCTGGACAGTGGCAGTTTCCAGGCACTTGGGCTGGTTGGCCTGCAGGAGTCTGTAAGGTACATCGCAGTCCTGAAGA
Celera SNP ID:            hCV25936566
SNP Position Transcript:  370
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,6)   caucasian(C,40)   total(C,70|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 114, (I,ATC)   (I,ATT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 114, (I,ATC)   (I,ATT)      



Context             (SEQ ID NO:11650):
ATGTACAGATACACGCAGAGCGATTCATCAACTATAACCAGACAGTTTCTCGAATGCGAGGTATCTACACAGCTCCCTCGGGTCTGGAGTCCACTTGTTT
R
GTTGTGGCCTATGGTTTGGACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTATGACTACGTGTTAATCAGCAGCG
Celera SNP ID:            hCV25933127
SNP Position Transcript:  2680
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 884, (L,TTA)   (L,TTG)   



Context             (SEQ ID NO:11651):
ATTGAGAACAACAGTCAGCACTTGGGATTTTCCTTCCTGGTCTCCACTAGGAACCCTGAAAATCAGAAGTCTGGGCACATTGACCTGCAGAAAAGTAGCA
R
TTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATACCTCGTG
Celera SNP ID:            hCV8860726
SNP Position Transcript:  1011
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,28)   caucasian(A,6|G,34)   total(A,16|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 328, (N,AAT)   (S,AGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 328, (N,AAT)   (S,AGT)      328, (S,AGT)   (N,AAT)      



Context             (SEQ ID NO:11652):
CCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGTGGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATCTTCCTC
R
TTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTGTACCAGTA
Celera SNP ID:            hCV25933216
SNP Position Transcript:  2162
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,38)   total(A,73|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 712, (I,ATT)   (V,GTT)   



Context             (SEQ ID NO:11653):
GTGAGTATTGAGAACAACAGTCAGCACTTGGGATTTTCCTTCCTGGTCTCCACTAGGAACCCTGAAAATCAGAAGTCTGGGCACATTGACCTGCAGAAAA
S
TAGCAGTTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCTAGTTCAAAGGACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATAC
Celera SNP ID:            hCV8860727
SNP Position Transcript:  1005
SNP Source:               Applera
Population(Allele,Count): african american(C,24|G,14)   caucasian(C,19|G,21)   total(C,43|G,35)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 326, (T,ACT)   (S,AGT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    ;no_pop(G,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 326, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:11654):
CAGTCTCTCGACTTAGAATTTGGAAGTGGATTCCAACCCCGGGTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACT
Y
GTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATGGAACGCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGG
Celera SNP ID:            hCV27269110
SNP Position Transcript:  762
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,1)      total(C,1|T,1) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 245, (S,TCG)   (L,TTG)      245, (L,TTG)   (S,TCG)      



Context             (SEQ ID NO:11655):
GGCG
R
TGGGTGGTGCATGCGCTCGCATCATGGCGGCTGAGTGGGCTTCTCGTTTCTGGCTTTGGGCTACGCTGCTGATTCCTGCGGCCGCGGTCTACGAAGACCA
Celera SNP ID:            hCV16188754
SNP Position Transcript:  5
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,2|G,38)   total(A,2|G,74)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1367, None

SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,35)   total(A,1|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1367, None

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;JBIC-allele(A,49|G,1426)   total(G,1426|A,49)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1367, None   



Context             (SEQ ID NO:11656):
CGCCAAGGTGTTGCTGTTGATAGATGATGAATACAAGGTCACAGCTTTTCCAGCCACTCGGAATGTCTTGCGACAGCTACATGAGCTTGCCCCTTCCATC
Y
TCTTCTATTTGGTGGATGCAGAGCAGGGACGGCTGTGTGGATATCGGCTTCGAAAGGATCTCACCACTGAGCTGAGTTGGGAGCTGACCATTCCCCCAGA
Celera SNP ID:            hCV15878720
SNP Position Transcript:  1886
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(C,9|T,1492)   total(C,9|T,1492) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 620, (L,CTC)   (F,TTC)      



Context             (SEQ ID NO:11657):
GTCCTGCCTACCCAGCCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACTTGTCCCCAAGCCACTATGCTCTGCTGCAGTACCATTATGGAA
Y
GCTGAGTTTGCTTAAAAACTTCCCACAGACTGCCCTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAATGAAGTG
Celera SNP ID:            hCV25935724
SNP Position Transcript:  804
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 259, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11658):
AATTTTATTGATCTAACCTTTGAAGCTTTAAAAAAGGAGAAAGAGGGTAGGGGTGGGAAACTGGCATACTGTGTGTATAGCACTGCCGATTGGCTAGGCC
M
CTGTGTCTCTGCTACAAATTAAAGAAATCCTAAAAGTTTTCCTTGGTCATAGAGTTGGGGAATGACAGAATTTTTCTTTGTTGTGAAATGTATGTACAGA
Celera SNP ID:            hCV8860710
SNP Position Transcript:  3904
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    ;no_pop(C,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1367, None   



Context             (SEQ ID NO:11659):
TGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGTGGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCAT
Y
TTCCTCATTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGCCCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTGT
Celera SNP ID:            hCV8860713
SNP Position Transcript:  2155
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,4)   caucasian(C,38)   total(C,68|T,4)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 709, (I,ATC)   (I,ATT)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1367, 709, (I,ATC)   (I,ATT)      709, (I,ATT)   (I,ATC)      



Context             (SEQ ID NO:11660):
TGAAGGGGAAACGCAGCAGTGAGCACGTTCATTCCCAGGGCCGTGTGATGGGGGACCGCAGTGTGCTCTACAAGAGCCTGAACCCCAACCTGCTGGCCGT
R
GTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATCTTCCTCATTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGA
Celera SNP ID:            hCV8860714
SNP Position Transcript:  2107
SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,32)   caucasian(G,38)   total(A,4|G,70)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 693, (V,GTA)   (V,GTG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1367, 693, (V,GTA)   (V,GTG)      693, (V,GTG)   (V,GTA)      



Gene Number:                 259
Celera Gene:                 hCG41227 - 79000075609985
Celera Transcript:           hCT2308501 - 79000075610008
Public Transcript Accession: NM_005967
Celera Protein:              hCP1880692 - 197000069413956
Public Protein Accession:    NP_005958
Gene Symbol:                 NAB2
Protein Name:                NGFI-A binding protein 2 (EGR1 binding protein 2);MADER
Celera Genomic Axis:         GA_x5YUV32W46Y(4760552..4768120)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:671):
CAGCCAGCGCAGCTCCGGGCCTCGCTCCCTGTGCGTCCTGCGGGGGCGGAGGCGCGGAGAGGCGGCAAGCGCAGCCGGGGAGGGTGGGGGGGCAGAGGCA
CAGACAGAGGCGCGGAGGCTCGGAGAGAGAAGACGTGGAGGGAGGGACAGAGCCTGGACAGCGGTGGACACGGCATCGTGCGCGGGGAAGAGGGCAGCAC
GCAGCAGGCGCCGAGCGCCGGGCACCGAGAAGGGCAGCCCGGGTGATCTCCGGCCGTCCATGCACAGAGCGCCTTCCCCCACAGCCGAGCAGCCGCCGGG
CGGAGGGGACAGCGCCCGCCGGACCCTGCAGCCCAGACTCAAGCCCAGTGCCCGAGCCATGGCACTGCCTCGGACGCTGGGGGAGCTGCAGCTGTACCGG
GTCCTGCAGCGCGCCAACCTCCTTTCCTACTATGAGACCTTCATCCAGCAGGGAGGGGACGACGTGCAGCAGCTGTGTGAGGCGGGTGAGGAGGAGTTTC
TGGAGATCATGGCACTTGTGGGCATGGCCACCAAGCCCCTCCATGTCCGGCGCCTGCAGAAGGCACTGAGAGAGTGGGCCACCAATCCAGGGCTCTTCAG
TCAACCAGTGCCTGCTGTTCCCGTCTCCAGCATCCCGCTCTTCAAGATCTCTGAGACTGCGGGTACCCGGAAAGGGAGCATGAGCAATGGGCATGGCAGC
CCAGGGGAAAAGGCAGGCAGTGCCCGCAGTTTTAGCCCCAAGAGCCCCCTTGAACTTGGAGAGAAGCTATCACCACTGCCTGGGGGACCTGGGGCAGGGG
ACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCSGTGGGACTGGGGGTGGTCCAGACC
GACTGGAGCCAGAGATGGTACGCATGCCTGTCTGGGGAGAGTCTGGATGGACATTTGCAGGCTGTGGGGTCATGTCCAAGGCTGACGCCGCCCCCTGCTG
ACCTGCCTCTGGCATTGCCAGCCCATGGGCTATGGAGCCGACACATCCTGCAGCAGACACTGATGGACGAGGGGCTGCGGCTCGCCCGCCTCGTCTCCCA
CGACCGCGTGGGCCGCCTCAGCCCCTGTGTGCCTGCGAAGCCACCTCTCGCAGAGTTCGAGGAAGGGCTGCTGGACAGATGTCCTGCCCCAGGACCCCAT
CCCGCGCTGGTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGMCCTCAGAC
TTCTGGCTCMCMCAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACMMCCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGG
GCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTGYGTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGC
AAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACASACTCCCATTCTCTTTAGGTTTGCACCAGTGGTGTGAGCAGTTGGACTCA
GTTTGGACAAGGGGGAAAGGGGGACTTCCCTGGGAAGGTCCAGCTAAAAGTGGCAACATTTGCCCCCAGAATTGGGGGCCTGGGAACACTGGACCTGCTC
CTTCTCCCCTCTCCTTCCCCGTTTTTGTGCTTCTGGTTTGTTTCTTTAATTAATTTAACAAGTGCTGCAGTTTGCCCTCCCATTCCCATCTATCCCCCAA
GTCCTTTGCAATTTCTTCCCTGCCCTACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCC
AGCTGGGGGCTGGACYGCAGCACCTATYTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAAT
TTATTTTATGGCTTAGGATCTATGACCCCTGCCTTGAGAGGGAGAATGGGATAGGGGAGTGAAGGGAAGCTGGCGGTGGATGGGGCAACAGAAAAGATGC
AGCAGGCAGGGCCCTCTCATACACTGGAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCTCCCAGGYAGCATTGGAGGTGTGGAGCCATA
CGTAGATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATGTCAGAGAGGCCAGCACACTTGCT
GCTGTMTTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCA
GCTATAYATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTYGTACTTTTGCATAGTCTCATACACGTATCAGA
AGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGTAACCACATGTCCAGACYCCTCCTATGCTCC
CACCCAGGGTCCCTTGAGCTGCTTCCCATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTCTAGTGTAAATGTGTCTGTATGTTCCTGCCT
ATCCGTCCTAGGCCCTGGGTCAGAATGGGCGGAGAAGCCTTCCATGCCCTAACCTGTGCTCTTACCCAGCCCCCCTCCTGCTCAGCCCCATCACCCTCAG
AGAGCTCTGTATGTGTGTGTGCGTGCGTGTGCGCGCTGCAGGTGCAGGCATGTTGGGGYGTGTCTCAGAGCCTGAACTTCCCTTCCAGTCAGTGCTGGAA
GGAGGTGGGCAGGGGAATGATAGAAAGGAAGGAGTGGATTGGCTCCACCCACTGTGCATTCTCCTGTTAGTCTTTTCCTCCTGACCCAGGAGTAGGTGGG
GATAGGAGGGCACCCTCCCCATCTGCTGCTTGGCAGGGCATGAGCAAGTGTCCAGAGCAGGTCTGTGGGGGTAGTAGAAGAGCTGTCTCTTTGGGTTCTC
CCTCCAGCTGGGATCACCAACT

Protein Sequence    (SEQ ID NO:1368):
MHRAPSPTAEQPPGGGDSARRTLQPRLKPSARAMALPRTLGELQLYRVLQRANLLSYYETFIQQGGDDVQQLCEAGEEEFLEIMALVGMATKPLHVRRLQ
KALREWATNPGLFSQPVPAVPVSSIPLFKISETAGTRKGSMSNGHGSPGEKAGSARSFSPKSPLELGEKLSPLPGGPGAGDPRIWPGRSTPESDVGAGGE
EEAGSPWDWGWSRPTGARDGTHACLGRVWMDICRLWGHVQG


SNP Information

Context             (SEQ ID NO:11661):
GGACCCCATCCCGCGCTGGTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGG
M
CCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTG
Celera SNP ID:            hCV620391
SNP Position Transcript:  1292
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11662):
GTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTC
M
CACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACT
Celera SNP ID:            hCV620392
SNP Position Transcript:  1310
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11663):
CATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATATATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCT
Y
GTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTA
Celera SNP ID:            hCV7480847
SNP Position Transcript:  2468
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   PGA-AFRICAN-PANEL(C,2|T,46)   PGA-EUR(EAN-PANEL(C,6|T,40)   total(C,8|T,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11664):
GGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCAC
M
CAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGT
Celera SNP ID:            hCV620393
SNP Position Transcript:  1312
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11665):
ATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGTAACCACATGTCCAGAC
Y
CCTCCTATGCTCCCACCCAGGGTCCCTTGAGCTGCTTCCCATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTCTAGTGTAAATGTGTCTG
Celera SNP ID:            hCV7480848
SNP Position Transcript:  2587
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11666):
CCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCAC
M
ACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAG
Celera SNP ID:            hCV620394
SNP Position Transcript:  1350
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11667):
CAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACA
M
CCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGG
Celera SNP ID:            hCV620395
SNP Position Transcript:  1351
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11668):
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Y
ATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTTGTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCC
Celera SNP ID:            hCV620397
SNP Position Transcript:  2407
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,5|T,5)      total(C,5|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11669):
CATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGACCGCAGCACCTAT
Y
TGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAGGATCTATGACCC
Celera SNP ID:            hCV27469920
SNP Position Transcript:  1928
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11670):
CTCTTACCCAGCCCCCCTCCTGCTCAGCCCCATCACCCTCAGAGAGCTCTGTATGTGTGTGTGCGTGCGTGTGCGCGCTGCAGGTGCAGGCATGTTGGGG
Y
GTGTCTCAGAGCCTGAACTTCCCTTCCAGTCAGTGCTGGAAGGAGGTGGGCAGGGGAATGATAGAAAGGAAGGAGTGGATTGGCTCCACCCACTGTGCAT
Celera SNP ID:            hCV620398
SNP Position Transcript:  2859
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11671):
ATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATGTCAGAGAGGCCAGCACACTTGCTGCTGT
M
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Celera SNP ID:            hCV29119645
SNP Position Transcript:  2306
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11672):
CTGCCTGGGGGACCTGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGC
S
GTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCATGCCTGTCTGGGGAGAGTCTGGATGGACATTTGCAGGCTGTGGGGTCATGTC
Celera SNP ID:            hCV15945480
SNP Position Transcript:  876
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11673):
TGGATGGGGCAACAGAAAAGATGCAGCAGGCAGGGCCCTCTCATACACTGGAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCTCCCAGG
Y
AGCATTGGAGGTGTGGAGCCATACGTAGATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATG
Celera SNP ID:            hCV11964058
SNP Position Transcript:  2177
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11674):
TCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTG
Y
GTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACACACTCCCATTCTCTTT
Celera SNP ID:            hCV15985124
SNP Position Transcript:  1466
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,1|C,43)   total(C,43|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11675):
GACACAAGGAGGGTGCGTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACA
S
ACTCCCATTCTCTTTAGGTTTGCACCAGTGGTGTGAGCAGTTGGACTCAGTTTGGACAAGGGGGAAAGGGGGACTTCCCTGGGAAGGTCCAGCTAAAAGT
Celera SNP ID:            hCV15985125
SNP Position Transcript:  1551
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,1|C,39)   total(G,1|C,39) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Context             (SEQ ID NO:11676):
TTCCCTGCCCTACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGAC
Y
GCAGCACCTATCTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAG
Celera SNP ID:            hCV15985126
SNP Position Transcript:  1916
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,3|C,33)   total(C,33|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1368, None   



Gene Number:                 259
Celera Gene:                 hCG41227 - 79000075609985
Celera Transcript:           hCT32497 - 79000075609986
Public Transcript Accession: NM_005967
Celera Protein:              hCP51057 - 197000069413954
Public Protein Accession:    NP_005958
Gene Symbol:                 NAB2
Protein Name:                NGFI-A binding protein 2 (EGR1 binding protein 2);MADER
Celera Genomic Axis:         GA_x5YUV32W46Y(4760196..4768120)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:672):
AGGGGTGGGGGAGAGAAGGAATGTCGCCGGCGGGGCGCTCACGTGGGTACGTGGGCGCCAAGAGGGCCGGCTGTGCATCCGGCGTGGGCGGCACAGAACG
ACCTCGCCCCGCCCGCTGGGTCCCCAAGCCCGCCCTGCACAGCCGGGCCTCGGTCACCTCGGTCCCCAATTCGGCGCCCCGGCTCTGAATCCCCGCCCCC
GCCTCCTGCTCCACACCCCCTCCCCCCCCGTCTCCGCCTCTCCCAGTCTCTAAGCCGCGGCGTCTCCGCGGCCGAGAGGCCCCAGCGCCCGCCTCCCCGG
CCCCCGCCCCCACCCCCGCCCCCGGCTCTGCCCACGCCCTCCGCCCGCCAGCCCGGCAGCCAGCGCAGCTCCGGGCCTCGCTCCCTGTGCGTCCTGCGGG
GGCGGAGGCGCGGAGAGGCGGCAAGCGCAGCCGGGGAGGGTGGGGGGGCAGAGGCACAGACAGAGGCGCGGAGGCTCGGAGAGAGAAGACGTGGAGGGAG
GGACAGAGCCTGGACAGCGGTGGACACGGCATCGTGCGCGGGGAAGAGGGCAGCACGCAGCAGGCGCCGAGCGCCGGGCACCGAGAAGGGCAGCCCGGGT
GATCTCCGGCCGTCCATGCACAGAGCGCCTTCCCCCACAGCCGAGCAGCCGCCGGGCGGAGGGGACAGCGCCCGCCGGACCCTGCAGCCCAGACTCAAGC
CCAGTGCCCGAGCCATGGCACTGCCTCGGACGCTGGGGGAGCTGCAGCTGTACCGGGTCCTGCAGCGCGCCAACCTCCTTTCCTACTATGAGACCTTCAT
CCAGCAGGGAGGGGACGACGTGCAGCAGCTGTGTGAGGCGGGTGAGGAGGAGTTTCTGGAGATCATGGCACTTGTGGGCATGGCCACCAAGCCCCTCCAT
GTCCGGCGCCTGCAGAAGGCACTGAGAGAGTGGGCCACCAATCCAGGGCTCTTCAGTCAACCAGTGCCTGCTGTTCCCGTCTCCAGCATCCCGCTCTTCA
AGATCTCTGAGACTGCGGGTACCCGGAAAGGGAGCATGAGCAATGGGCATGGCAGCCCAGGGGAAAAGGCAGGCAGTGCCCGCAGTTTTAGCCCCAAGAG
CCCCCTTGAACTTGGAGAGAAGCTATCACCACTGCCTGGGGGACCTGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTT
GGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCSCCCTTCTCCCCCYCTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTG
GGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCATGGTGGTGGAAAGTGTGGAGAGGATCTTCCGGAGCTTCCCAAGGGGGGATGCTGG
GGAGGTCACATCCCTGCTAAAGCTGAATAAGAAGCTGGCACGGAGCGTTGGGCACATCTTTGAGATGGATGATAATGACAGCCAGAAGGAAGAGGAGATC
CGCAAATACAGCATCATCTATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCAGCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGT
TCTGCATGAGGGACAACACRCTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCCCGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGG
CTCCAGGCTTCACCCTGAAGAACTGGGAGGCCCTCCACTGAAGAAGCTGAAACAAGAGGTTGGAGAACAGAGTCACCCTGAAATCCAGCAGCCTCCCCCA
GGCCCTGAGTCCTATGTACCCCCATACCGCCCCAGCCTGGAGGAGGACAGCGCCAGCCTGTCTGGGGAGAGTCTGGATGGACATTTGCAGGCTGTGGGGT
CATGTCCAAGGCTGACGCCGCCCCCTGCTGACCTGCCTCTGGCATTGCCAGCCCATGGGCTATGGAGCCGACACATCCTGCAGCAGACACTGATGGACGA
GGGGCTGCGGCTCGCCCGCCTCGTCTCCCACGACCGCGTGGGCCGCCTCAGCCCCTGTGTGCCTGCGAAGCCACCTCTCGCAGAGTTCGAGGAAGGGCTG
CTGGACAGATGTCCTGCCCCAGGACCCCATCCCGCGCTGGTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGG
ACTGGTGTCTTCAGACCCAGGMCCTCAGACTTCTGGCTCMCMCAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACMMCCCTGGATCCTTCCTCTGC
CCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTGYGTGG
TGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACASACTCCCATTCTCTTTAGGT
TTGCACCAGTGGTGTGAGCAGTTGGACTCAGTTTGGACAAGGGGGAAAGGGGGACTTCCCTGGGAAGGTCCAGCTAAAAGTGGCAACATTTGCCCCCAGA
ATTGGGGGCCTGGGAACACTGGACCTGCTCCTTCTCCCCTCTCCTTCCCCGTTTTTGTGCTTCTGGTTTGTTTCTTTAATTAATTTAACAAGTGCTGCAG
TTTGCCCTCCCATTCCCATCTATCCCCCAAGTCCTTTGCAATTTCTTCCCTGCCCTACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGG
GAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGACYGCAGCACCTATYTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAG
ATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAGGATCTATGACCCCTGCCTTGAGAGGGAGAATGGGATAGGGGAGTGAAGGGAAGC
TGGCGGTGGATGGGGCAACAGAAAAGATGCAGCAGGCAGGGCCCTCTCATACACTGGAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCT
CCCAGGYAGCATTGGAGGTGTGGAGCCATACGTAGATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTA
GCATATGTCAGAGAGGCCAGCACACTTGCTGCTGTMTTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACAT
GTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATAYATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTYGT
ACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGT
AACCACATGTCCAGACYCCTCCTATGCTCCCACCCAGGGTCCCTTGAGCTGCTTCCCATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTC
TAGTGTAAATGTGTCTGTATGTTCCTGCCTATCCGTCCTAGGCCCTGGGTCAGAATGGGCGGAGAAGCCTTCCATGCCCTAACCTGTGCTCTTACCCAGC
CCCCCTCCTGCTCAGCCCCATCACCCTCAGAGAGCTCTGTATGTGTGTGTGCGTGCGTGTGCGCGCTGCAGGTGCAGGCATGTTGGGGYGTGTCTCAGAG
CCTGAACTTCCCTTCCAGTCAGTGCTGGAAGGAGGTGGGCAGGGGAATGATAGAAAGGAAGGAGTGGATTGGCTCCACCCACTGTGCATTCTCCTGTTAG
TCTTTTCCTCCTGACCCAGGAGTAGGTGGGGATAGGAGGGCACCCTCCCCATCTGCTGCTTGGCAGGGCATGAGCAAGTGTCCAGAGCAGGTCTGTGGGG
GTAGTAGAAGAGCTGTCTCTTTGGGTTCTCCCTCCAGCTGGGATCACCAACT

Protein Sequence    (SEQ ID NO:1369):
MHRAPSPTAEQPPGGGDSARRTLQPRLKPSARAMALPRTLGELQLYRVLQRANLLSYYETFIQQGGDDVQQLCEAGEEEFLEIMALVGMATKPLHVRRLQ
KALREWATNPGLFSQPVPAVPVSSIPLFKISETAGTRKGSMSNGHGSPGEKAGSARSFSPKSPLELGEKLSPLPGGPGAGDPRIWPGRSTPESDVGAGGE
EEAGSPPFSPPAGGGVPEGTGAGGLAAGGTGGGPDRLEPEMVRMVVESVERIFRSFPRGDAGEVTSLLKLNKKLARSVGHIFEMDDNDSQKEEEIRKYSI
IYGRFDSKRREGKQLSLHELTINEAAAQFCMRDNTLLLRRVELFSLSRQVARESTYLSSLKGSRLHPEELGGPPLKKLKQEVGEQSHPEIQQPPPGPESY
VPPYRPSLEEDSASLSGESLDGHLQAVGSCPRLTPPPADLPLALPAHGLWSRHILQQTLMDEGLRLARLVSHDRVGRLSPCVPAKPPLAEFEEGLLDRCP
APGPHPALVEGRRSSVKVEAEASRQ


SNP Information

Context             (SEQ ID NO:11677):
GGACCCCATCCCGCGCTGGTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGG
M
CCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTG
Celera SNP ID:            hCV620391
SNP Position Transcript:  2222
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11678):
GTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTC
M
CACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACT
Celera SNP ID:            hCV620392
SNP Position Transcript:  2240
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11679):
CATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATATATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCT
Y
GTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTA
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3398
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   PGA-AFRICAN-PANEL(C,2|T,46)   PGA-EUR(EAN-PANEL(C,6|T,40)   total(C,8|T,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11680):
GGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCAC
M
CAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGT
Celera SNP ID:            hCV620393
SNP Position Transcript:  2242
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11681):
ATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGTAACCACATGTCCAGAC
Y
CCTCCTATGCTCCCACCCAGGGTCCCTTGAGCTGCTTCCCATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTCTAGTGTAAATGTGTCTG
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3517
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11682):
CCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCAC
M
ACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAG
Celera SNP ID:            hCV620394
SNP Position Transcript:  2280
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11683):
CAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACA
M
CCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGG
Celera SNP ID:            hCV620395
SNP Position Transcript:  2281
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11684):
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Y
ATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTTGTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCC
Celera SNP ID:            hCV620397
SNP Position Transcript:  3337
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,5|T,5)      total(C,5|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11685):
CATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGACCGCAGCACCTAT
Y
TGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAGGATCTATGACCC
Celera SNP ID:            hCV27469920
SNP Position Transcript:  2858
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11686):
CTCTTACCCAGCCCCCCTCCTGCTCAGCCCCATCACCCTCAGAGAGCTCTGTATGTGTGTGTGCGTGCGTGTGCGCGCTGCAGGTGCAGGCATGTTGGGG
Y
GTGTCTCAGAGCCTGAACTTCCCTTCCAGTCAGTGCTGGAAGGAGGTGGGCAGGGGAATGATAGAAAGGAAGGAGTGGATTGGCTCCACCCACTGTGCAT
Celera SNP ID:            hCV620398
SNP Position Transcript:  3789
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11687):
ATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATGTCAGAGAGGCCAGCACACTTGCTGCTGT
M
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Celera SNP ID:            hCV29119645
SNP Position Transcript:  3236
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11688):
TGCCTGGGGGACCTGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCC
S
CCCTTCTCCCCCCCTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAG
Celera SNP ID:            hCV15945480
SNP Position Transcript:  1233
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1369, 206, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11689):
TGGATGGGGCAACAGAAAAGATGCAGCAGGCAGGGCCCTCTCATACACTGGAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCTCCCAGG
Y
AGCATTGGAGGTGTGGAGCCATACGTAGATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATG
Celera SNP ID:            hCV11964058
SNP Position Transcript:  3107
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11690):
ATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCAGCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGTTCTGCATGAGGGACAACAC
R
CTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCCCGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGGCTCCAGGCTTCACCCTGAAG
Celera SNP ID:            hCV1338396
SNP Position Transcript:  1620
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1369, 335, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11691):
TGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCCCCCTTCTCCCCC
Y
CTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCAT
Celera SNP ID:            hCV15945481
SNP Position Transcript:  1246
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1369, 211, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:11692):
TCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTG
Y
GTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACACACTCCCATTCTCTTT
Celera SNP ID:            hCV15985124
SNP Position Transcript:  2396
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,1|C,43)   total(C,43|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11693):
GACACAAGGAGGGTGCGTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACA
S
ACTCCCATTCTCTTTAGGTTTGCACCAGTGGTGTGAGCAGTTGGACTCAGTTTGGACAAGGGGGAAAGGGGGACTTCCCTGGGAAGGTCCAGCTAAAAGT
Celera SNP ID:            hCV15985125
SNP Position Transcript:  2481
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,1|C,39)   total(G,1|C,39) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Context             (SEQ ID NO:11694):
TTCCCTGCCCTACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGAC
Y
GCAGCACCTATCTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAG
Celera SNP ID:            hCV15985126
SNP Position Transcript:  2846
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,3|C,33)   total(C,33|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1369, None   



Gene Number:                 259
Celera Gene:                 hCG41227 - 79000075609985
Celera Transcript:           hCT2308505 - 79000075610018
Public Transcript Accession: NM_005967
Celera Protein:              hCP1880693 - 197000069413957
Public Protein Accession:    NP_005958
Gene Symbol:                 NAB2
Protein Name:                NGFI-A binding protein 2 (EGR1 binding protein 2);MADER
Celera Genomic Axis:         GA_x5YUV32W46Y(4760552..4766258)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:673):
CAGCCAGCGCAGCTCCGGGCCTCGCTCCCTGTGCGTCCTGCGGGGGCGGAGGCGCGGAGAGGCGGCAAGCGCAGCCGGGGAGGGTGGGGGGGCAGAGGCA
CAGACAGAGGCGCGGAGGCTCGGAGAGAGAAGACGTGGAGGGAGGGACAGAGCCTGGACAGCGGTGGACACGGCATCGTGCGCGGGGAAGAGGGCAGCAC
GCAGCAGGCGCCGAGCGCCGGGCACCGAGAAGGGCAGCCCGGGTGATCTCCGGCCGTCCATGCACAGAGCGCCTTCCCCCACAGCCGAGCAGCCGCCGGG
CGGAGGGGACAGCGCCCGCCGGACCCTGCAGCCCAGACTCAAGCCCAGTGCCCGAGCCATGGCACTGCCTCGGACGCTGGGGGAGCTGCAGCTGTACCGG
GTCCTGCAGCGCGCCAACCTCCTTTCCTACTATGAGACCTTCATCCAGCAGGGAGGGGACGACGTGCAGCAGCTGTGTGAGGCGGGTGAGGAGGAGTTTC
TGGAGATCATGGCACTTGTGGGCATGGCCACCAAGCCCCTCCATGTCCGGCGCCTGCAGAAGGCACTGAGAGAGTGGGCCACCAATCCAGGGCTCTTCAG
TCAACCAGTGCCTGCTGTTCCCGTCTCCAGCATCCCGCTCTTCAAGATCTCTGAGACTGCGGGTACCCGGAAAGGGAGCATGAGCAATGGGCATGGCAGC
CCAGGGGAAAAGGCAGGCAGTGCCCGCAGTTTTAGCCCCAAGAGCCCCCTTGAACTTGGAGAGAAGCTATCACCACTGCCTGGGGGACCTGGGGCAGGGG
ACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCSCCCTTCTCCCCCYCTGCAGGGGG
AGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCATGGTGGTGGAA
AGTGTGGAGAGGATCTTCCGGAGCTTCCCAAGGGGGGATGCTGGGGAGGTCACATCCCTGCTAAAGCTGAATAAGAAGCTGGCACGGAGCGTTGGGCACA
TCTTTGAGATGGATGATAATGACAGCCAGAAGGAAGAGGAGATCCGCAAATACAGCATCATCTATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCA
GCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGTTCTGCATGAGGGACAACACRCTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCC
CGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGGCTCCAGGCTTCACCCTGAAGAACTGGGAGGCCCTCCACTGAAGAAGCTGAAACAAG
AGGTTGGAGAACAGAGTCACCCTGAAATCCAGCAGCCTCCCCCAGGCCCTGAGTCCTATGTACCCCCATACCGCCCCAGCCTGGAGGAGGACAGCGCCAG
CCTGTCTGGGGAGAGTCTGGATGGACATTTGCAGGAGTTCGAGGAAGGGCTGCTGGACAGATGTCCTGCCCCAGGACCCCATCCCGCGCTGGTGGAGGGT
CGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAG

Protein Sequence    (SEQ ID NO:1370):
MHRAPSPTAEQPPGGGDSARRTLQPRLKPSARAMALPRTLGELQLYRVLQRANLLSYYETFIQQGGDDVQQLCEAGEEEFLEIMALVGMATKPLHVRRLQ
KALREWATNPGLFSQPVPAVPVSSIPLFKISETAGTRKGSMSNGHGSPGEKAGSARSFSPKSPLELGEKLSPLPGGPGAGDPRIWPGRSTPESDVGAGGE
EEAGSPPFSPPAGGGVPEGTGAGGLAAGGTGGGPDRLEPEMVRMVVESVERIFRSFPRGDAGEVTSLLKLNKKLARSVGHIFEMDDNDSQKEEEIRKYSI
IYGRFDSKRREGKQLSLHELTINEAAAQFCMRDNTLLLRRVELFSLSRQVARESTYLSSLKGSRLHPEELGGPPLKKLKQEVGEQSHPEIQQPPPGPESY
VPPYRPSLEEDSASLSGESLDGHLQEFEEGLLDRCPAPGPHPALVEGRRSSVKVEAEASRQ


SNP Information

Context             (SEQ ID NO:11695):
TGCCTGGGGGACCTGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCC
S
CCCTTCTCCCCCCCTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAG
Celera SNP ID:            hCV15945480
SNP Position Transcript:  877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1370, 206, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11696):
ATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCAGCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGTTCTGCATGAGGGACAACAC
R
CTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCCCGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGGCTCCAGGCTTCACCCTGAAG
Celera SNP ID:            hCV1338396
SNP Position Transcript:  1264
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1370, 335, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11697):
TGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCCCCCTTCTCCCCC
Y
CTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCAT
Celera SNP ID:            hCV15945481
SNP Position Transcript:  890
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1370, 211, (P,CCT)   (S,TCT)      



Gene Number:                 259
Celera Gene:                 hCG41227 - 79000075609985
Celera Transcript:           hCT2308503 - 79000075609997
Public Transcript Accession: NM_005967
Celera Protein:              hCP1880691 - 197000069413955
Public Protein Accession:    NP_005958
Gene Symbol:                 NAB2
Protein Name:                NGFI-A binding protein 2 (EGR1 binding protein 2);MADER
Celera Genomic Axis:         GA_x5YUV32W46Y(4760552..4768120)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:674):
CAGCCAGCGCAGCTCCGGGCCTCGCTCCCTGTGCGTCCTGCGGGGGCGGAGGCGCGGAGAGGCGGCAAGCGCAGCCGGGGAGGGTGGGGGGGCAGAGGCA
CAGACAGAGGCGCGGAGGCTCGGAGAGAGAAGACGTGGAGGGAGGGACAGAGCCTGGACAGCGGTGGACACGGCATCGTGCGCGGGGAAGAGGGCAGCAC
GCAGCAGGCGCCGAGCGCCGGGCACCGAGAAGGGCAGCCCGGGTGATCTCCGGCCGTCCATGCACAGAGCGCCTTCCCCCACAGCCGAGCAGCCGCCGGG
CGGAGGGGACAGCGCCCGCCGGACCCTGCAGCCCAGACTCAAGCCCAGTGCCCGAGCCATGGCACTGCCTCGGACGCTGGGGGAGCTGCAGCTGTACCGG
GTCCTGCAGCGCGCCAACCTCCTTTCCTACTATGAGACCTTCATCCAGCAGGGAGGGGACGACGTGCAGCAGCTGTGTGAGGCGGGTGAGGAGGAGTTTC
TGGAGATCATGGCACTTGTGGGCATGGCCACCAAGCCCCTCCATGTCCGGCGCCTGCAGAAGGCACTGAGAGAGTGGGCCACCAATCCAGGGCTCTTCAG
TCAACCAGTGCCTGCTGTTCCCGTCTCCAGCATCCCGCTCTTCAAGATCTCTGAGACTGCGGGTACCCGGAAAGGGAGCATGAGCAATGGGCATGGCAGC
CCAGGGGAAAAGGCAGGCAGTGCCCGCAGTTTTAGCCCCAAGAGCCCCCTTGAACTTGGAGAGAAGCTATCACCACTGCCTGGGGGACCTGGGGCAGGGG
ACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCSCCCTTCTCCCCCYCTGCAGGGGG
AGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCATGGTGGTGGAA
AGTGTGGAGAGGATCTTCCGGAGCTTCCCAAGGGGGGATGCTGGGGAGGTCACATCCCTGCTAAAGCTGAATAAGAAGCTGGCACGGAGCGTTGGGCACA
TCTTTGAGATGGATGATAATGACAGCCAGAAGGAAGAGGAGATCCGCAAATACAGCATCATCTATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCA
GCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGTTCTGCATGAGGGACAACACRCTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCC
CGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGGCTCCAGGCTTCACCCTGAAGAACTGGGAGGCCCTCCACTGAAGAAGCTGAAACAAG
AGGTTGGAGAACAGAGTCACCCTGAAATCCAGCAGCCTCCCCCAGGCCCTGAGTCCTATGTACCCCCATACCGCCCCAGCCTGGAGGAGGACAGCGCCAG
CCTGTCTGGGGAGAGTCTGGATGGACATTTGCAGGCTGTGGGGTCATGTCCAAGGCTGACGCCGCCCCCTGCTGACCTGCCTCTGGCATTGCCAGCCCAT
GGGCTATGGAGCCGACACATCCTGCAGCAGACACTGATGGACGAGGGGCTGCGGCTCGCCCGCCTCGTCTCCCACGACCGCGTGGGCCGCCTCAGCCCCT
GTGTGCCTGCGAAGCCACCTCTCGCAGAGTTCGAGGAAGGGCTGCTGGACAGATGTCCTGCCCCAGGACCCCATCCCGCGCTGGTGGAGGGTCGCAGGAG
CAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGMCCTCAGACTTCTGGCTCMCMCAGACCCCCACGCT
CTCCATCCCCGGAATCTAGTCACMMCCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAA
TAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTGYGTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGG
GGTTTTCCCCTCCCTCACACAACASACTCCCATTCTCTTTAGGTTTGCACCAGTGGTGTGAGCAGTTGGACTCAGTTTGGACAAGGGGGAAAGGGGGACT
TCCCTGGGAAGGTCCAGCTAAAAGTGGCAACATTTGCCCCCAGAATTGGGGGCCTGGGAACACTGGACCTGCTCCTTCTCCCCTCTCCTTCCCCGTTTTT
GTGCTTCTGGTTTGTTTCTTTAATTAATTTAACAAGTGCTGCAGTTTGCCCTCCCATTCCCATCTATCCCCCAAGTCCTTTGCAATTTCTTCCCTGCCCT
ACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGACYGCAGCACCTA
TYTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAGGATCTATGAC
CCCTGCCTTGAGAGGGAGAATGGGATAGGGGAGTGAAGGGAAGCTGGCGGTGGATGGGGCAACAGAAAAGATGCAGCAGGCAGGGCCCTCTCATACACTG
GAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCTCCCAGGYAGCATTGGAGGTGTGGAGCCATACGTAGATGTCACAGCCACTTGGACCC
ACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATGTCAGAGAGGCCAGCACACTTGCTGCTGTMTTCTGTGCAGTGTCTCACCC
TCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATAYATTTAACATATCCTAGGTA
CATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTYGTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTT
GGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGTAACCACATGTCCAGACYCCTCCTATGCTCCCACCCAGGGTCCCTTGAGCTGCTTCC
CATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTCTAGTGTAAATGTGTCTGTATGTTCCTGCCTATCCGTCCTAGGCCCTGGGTCAGAAT
GGGCGGAGAAGCCTTCCATGCCCTAACCTGTGCTCTTACCCAGCCCCCCTCCTGCTCAGCCCCATCACCCTCAGAGAGCTCTGTATGTGTGTGTGCGTGC
GTGTGCGCGCTGCAGGTGCAGGCATGTTGGGGYGTGTCTCAGAGCCTGAACTTCCCTTCCAGTCAGTGCTGGAAGGAGGTGGGCAGGGGAATGATAGAAA
GGAAGGAGTGGATTGGCTCCACCCACTGTGCATTCTCCTGTTAGTCTTTTCCTCCTGACCCAGGAGTAGGTGGGGATAGGAGGGCACCCTCCCCATCTGC
TGCTTGGCAGGGCATGAGCAAGTGTCCAGAGCAGGTCTGTGGGGGTAGTAGAAGAGCTGTCTCTTTGGGTTCTCCCTCCAGCTGGGATCACCAACT

Protein Sequence    (SEQ ID NO:1371):
MHRAPSPTAEQPPGGGDSARRTLQPRLKPSARAMALPRTLGELQLYRVLQRANLLSYYETFIQQGGDDVQQLCEAGEEEFLEIMALVGMATKPLHVRRLQ
KALREWATNPGLFSQPVPAVPVSSIPLFKISETAGTRKGSMSNGHGSPGEKAGSARSFSPKSPLELGEKLSPLPGGPGAGDPRIWPGRSTPESDVGAGGE
EEAGSPPFSPPAGGGVPEGTGAGGLAAGGTGGGPDRLEPEMVRMVVESVERIFRSFPRGDAGEVTSLLKLNKKLARSVGHIFEMDDNDSQKEEEIRKYSI
IYGRFDSKRREGKQLSLHELTINEAAAQFCMRDNTLLLRRVELFSLSRQVARESTYLSSLKGSRLHPEELGGPPLKKLKQEVGEQSHPEIQQPPPGPESY
VPPYRPSLEEDSASLSGESLDGHLQAVGSCPRLTPPPADLPLALPAHGLWSRHILQQTLMDEGLRLARLVSHDRVGRLSPCVPAKPPLAEFEEGLLDRCP
APGPHPALVEGRRSSVKVEAEASRQ


SNP Information

Context             (SEQ ID NO:11698):
GGACCCCATCCCGCGCTGGTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGG
M
CCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTG
Celera SNP ID:            hCV620391
SNP Position Transcript:  1866
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11699):
GTGGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTC
M
CACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACT
Celera SNP ID:            hCV620392
SNP Position Transcript:  1884
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11700):
CATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATATATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCT
Y
GTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTA
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   PGA-AFRICAN-PANEL(C,2|T,46)   PGA-EUR(EAN-PANEL(C,6|T,40)   total(C,8|T,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11701):
GGAGGGTCGCAGGAGCAGCGTGAAAGTGGAGGCTGAGGCCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCAC
M
CAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACAACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGT
Celera SNP ID:            hCV620393
SNP Position Transcript:  1886
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11702):
ATACACGTATCAGAAGCCTCCACCTGGCTAACAGGAATTTGGGGCTTTGGGAGATTTTTTAATCAGGGCAAAACCTGTACTAGTAACCACATGTCCAGAC
Y
CCTCCTATGCTCCCACCCAGGGTCCCTTGAGCTGCTTCCCATTCCCCTAGGGCTGAGACCCAATATCCTCTATCCCTGGCCTCTAGTGTAAATGTGTCTG
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3161
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11703):
CCAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCAC
M
ACCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAG
Celera SNP ID:            hCV620394
SNP Position Transcript:  1924
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11704):
CAGCCGGCAGTGAGGGTTGGACTGGTGTCTTCAGACCCAGGACCTCAGACTTCTGGCTCACACAGACCCCCACGCTCTCCATCCCCGGAATCTAGTCACA
M
CCCTGGATCCTTCCTCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGG
Celera SNP ID:            hCV620395
SNP Position Transcript:  1925
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11705):
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Y
ATTTAACATATCCTAGGTACATACACGTTCACACAGCTATACACGAAGAATCTCAGCCCTTGTACTTTTGCATAGTCTCATACACGTATCAGAAGCCTCC
Celera SNP ID:            hCV620397
SNP Position Transcript:  2981
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(C,5|T,5)      total(C,5|T,5) ;no_pop(C,-|T,-)   ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11706):
CATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGACCGCAGCACCTAT
Y
TGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAGGATCTATGACCC
Celera SNP ID:            hCV27469920
SNP Position Transcript:  2502
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11707):
CTCTTACCCAGCCCCCCTCCTGCTCAGCCCCATCACCCTCAGAGAGCTCTGTATGTGTGTGTGCGTGCGTGTGCGCGCTGCAGGTGCAGGCATGTTGGGG
Y
GTGTCTCAGAGCCTGAACTTCCCTTCCAGTCAGTGCTGGAAGGAGGTGGGCAGGGGAATGATAGAAAGGAAGGAGTGGATTGGCTCCACCCACTGTGCAT
Celera SNP ID:            hCV620398
SNP Position Transcript:  3433
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRIGAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11708):
ATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATGTCAGAGAGGCCAGCACACTTGCTGCTGT
M
TTCTGTGCAGTGTCTCACCCTCCCAAATTTGTGTTGTCACGTAGGCAAAAGCAGATAGACACATGTTCTATGTGGTCATGCAACTAAGGTGCCAGCTATA
Celera SNP ID:            hCV29119645
SNP Position Transcript:  2880
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11709):
TGCCTGGGGGACCTGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCC
S
CCCTTCTCCCCCCCTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAG
Celera SNP ID:            hCV15945480
SNP Position Transcript:  877
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1371, 206, (P,CCC)   (P,CCG)      



Context             (SEQ ID NO:11710):
TGGATGGGGCAACAGAAAAGATGCAGCAGGCAGGGCCCTCTCATACACTGGAGGGCCACATGGCCAGGCCTGGACCCAGACTCTCACCCTGGCTCCCAGG
Y
AGCATTGGAGGTGTGGAGCCATACGTAGATGTCACAGCCACTTGGACCCACTTGGGCACAGTCAGACTCCAAATTCAGAGTATTTGGGGGTTAGCATATG
Celera SNP ID:            hCV11964058
SNP Position Transcript:  2751
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11711):
ATGGCCGTTTCGACTCTAAGCGGCGGGAGGGCAAGCAGCTCAGCCTGCACGAGCTCACCATCAACGAGGCTGCTGCCCAGTTCTGCATGAGGGACAACAC
R
CTCTTATTACGGAGAGTGGAGCTCTTCTCTTTGTCCCGCCAAGTAGCCCGAGAGAGCACCTACTTGTCCTCCTTGAAGGGCTCCAGGCTTCACCCTGAAG
Celera SNP ID:            hCV1338396
SNP Position Transcript:  1264
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,11)      total(G,11|A,1) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1371, 335, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11712):
TGGGGCAGGGGACCCCCGGATCTGGCCAGGCCGGAGCACTCCAGAGTCGGACGTTGGGGCAGGAGGAGAAGAGGAGGCTGGCTCGCCCCCCTTCTCCCCC
Y
CTGCAGGGGGAGGAGTCCCTGAGGGGACTGGGGCTGGGGGGCTGGCAGCAGGTGGGACTGGGGGTGGTCCAGACCGACTGGAGCCAGAGATGGTACGCAT
Celera SNP ID:            hCV15945481
SNP Position Transcript:  890
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1371, 211, (P,CCT)   (S,TCT)      



Context             (SEQ ID NO:11713):
TCTGCCCTTCTCCTGCCTCCCCACCTGCTCCATGGGCATAAGACTGTGGGGCTTCAAGCAATAACAAGCAGAGGCCTGGAGAGAGGACACAAGGAGGGTG
Y
GTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACACACTCCCATTCTCTTT
Celera SNP ID:            hCV15985124
SNP Position Transcript:  2040
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,1|C,43)   total(C,43|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11714):
GACACAAGGAGGGTGCGTGGTGCCCTCACCCCTGCCCAGAGCGAGGGGGCAAGGACTCTGCCTCCAGGGCATCTGGGGTTTTCCCCTCCCTCACACAACA
S
ACTCCCATTCTCTTTAGGTTTGCACCAGTGGTGTGAGCAGTTGGACTCAGTTTGGACAAGGGGGAAAGGGGGACTTCCCTGGGAAGGTCCAGCTAAAAGT
Celera SNP ID:            hCV15985125
SNP Position Transcript:  2125
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(G,1|C,39)   total(G,1|C,39) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Context             (SEQ ID NO:11715):
TTCCCTGCCCTACATAGGGGCGGTGGGTGTGGGATCCCTTCACTGGCCCCCTCGGGAGGCCTGGGTTGGACTCAGGGTCTCCTCCAGCTGGGGGCTGGAC
Y
GCAGCACCTATCTGAGCAGTTAGAGCGTCTTTCTTTTCAGATTGTGTACAGTAGATTATTTATTTTGTTATTTTGGAATAAAATTTATTTTATGGCTTAG
Celera SNP ID:            hCV15985126
SNP Position Transcript:  2490
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(T,3|C,33)   total(C,33|T,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1371, None   



Gene Number:                 260
Celera Gene:                 hCG41235 - 79000075624816
Celera Transcript:           hCT2309367 - 79000075624897
Public Transcript Accession: NM_003153
Celera Protein:              hCP1880649 - 197000069413913
Public Protein Accession:    NP_003144
Gene Symbol:                 STAT6
Protein Name:                signal transducer and activator of transcription 6, interleukin-4 induced;D12S1644;IL-4-STAT;STAT6B;STAT6C
Celera Genomic Axis:         GA_x5YUV32W46Y(4764982..4783814)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:675):
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTTGTGATTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTT
GGTGGTGGTGKTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAG
GGAGAAGACAGCASAGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGC
TCTATGTCGACTTTCCCCAACACCTGCGGCATCTTCTGGGTGACTGGCTGGAGAGCCAGCCCTGGGAGTTCCTGGTCGGCTCCGACGCCTTCTGCTGCAA
CTTGGCTAGTGCCCTACTTTCAGACACTGTCCAGCACCTTCAGGCCTCGGTGGGAGAGCAGGGGGAGGGGAGCACCATCTTGCAACACATCAGCACCCTT
GAGAGCATATATCAGAGGGACCCCCTGAAGCTGGTGGCCACTTTCAGACAAATACTTCAAGGAGAGAAAAAAGCTGTTATGGAACAGTTCCGCCACTTGC
CAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGASAAGCCCT
GCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCAKGCTACTGCAG
GAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGCGCACCGTTTG
AGGAGAGCCTGGCCCCACTCCAGGAGAGGTGTGAAAGCCTGGTGGACATTTATTCCCAGCTACAGCAGGAGGTAGGGGCGGCTGGTGGGGAGCTTGAGCC
CAAGACCCGGGCATCGCTGACTGGCCGGCTGGATGAAGTCCTGAGAACCCTCGTCACCAGTTGCTTCCTGGTGGAGAAGCAGCCCCCCCAGGTACTGAAG
ACTCAGACCAAGTTCCAGGCTGGAGTTCGATTCCTGTTGGGCTTGAGGTTCCTGGGGGCCCCAGCCAAGCCTCCGCTGGTCAGGGCCGACATGGTGACAG
AGAAGCAGGCGCGGGAGCTGAGTGTGCCTCAGGGTCCTGGGGCTGGAGCAGAAAGCACTGGAGAAATCATCAACAACACTGTGCCCTTGGAGAACAGCAT
TCCTGGGAACTGCTGCTCTGCCCTGTTCAAGAACCTGCTTCTCAAGAAGATCAAGCGGTGTGAGCGGAAGGGCACTGAGTCTGTCACAGAGGAGAAGTGC
GCTGTGCTCTTCTCTGCCAGCTTCACACTTGGCCCCGGCAAACTCCCCATCCAGCTCCAGGCCCTGTCTCTGCCCCTGGTGGTCATCGTCCATGGCAACC
AAGACAACAATGCCAAAGCCACTATCCTGTGGGACAATGCCTTCTCTGAGATGGACCGCGTGCCCTTTGTGGTGGCTGAGCGGGTGCCCTGGGAGAAGAT
GTGTGAAACTCTGAACCTGAAGTTCATGGCTGAGGTGGGGACCAACCGGGGGCTGCTCCCAGAGCACTTCCTCTTCCTGGCCCAGAAGATCTTCAATGAC
AACAGCCTCAGTATGGAGGCCTTCCAGCACCGTTCTGTGTCCTGGTCGCAGTTCAACAAGGAGATCCTGCTGGGCCGTGGCTTCACCTTTTGGCAGTGGT
TTGATGGTGTCCTGGACCTCACCAAACGCTGTCTCCGGAGCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCT
TCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAGYGACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCA
CAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGTCCATTCGCTCACTGGGGGACCGAATCCGGGATCTTGCTCAGCTCAAAAATCTCTATCCCA
AGAAGCCCAAGGATGAGGCTTTCCGGAGCCACTACAAGCCTGAACAGATGGGTAAGGATGGCAGGGGTTATGTCCCAGCTACCATCAAGATGACCGTGGA
AAGGGACCAACCACTTCCTACCCCAGAGCTCCAGATGCCTACCATGGTGCCTTCTTATGACCTTGGAATGGCCCCTGATTCCTCCATGAGCATGCAGCTT
GGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAAYGTGTTGTCAGCCT
TCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGTGCCAGCCTCAGGA
GCATGCTGTGTCCAGCCCTGACCCCCTGCTCTGCTCAGATGTGACCATGGTGGAAGACAGCTGCCTGAGCCAGCCAGTGACAGCGTTTCCTCAGGGCACT
TGGATTGGTGAAGACATATTCCCTCCTCTGCTGCCTCCCACTGAACAGGACCTCACTAAGCTTCTCCTGGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCT
TGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGACYTAAGGGCCAACCCCAGTTGGTGATCCCAGCT
GGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCCCTGCCAAGCAGCAGATGGGGAGGGTGCCCTC
CTATCCCCACCTACTCCTGGGTCAGGAGGAAAAGACTAACAGGAGAATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCA
CCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACACRCCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGA
GCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAGCACAGGTTAGGGCATGGAAGGCTTCTCCGCCCATTCTGACCCAGGGCCTAGGA
CGGATAGGCAGGAACATACAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCT
GGGTGGGAGCATAGGAGGRGTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGG
AGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACRAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATRT
ATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAAK
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
CTACGTATGGCTCCACACCTCCAATGCTRCCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGC
CTGCTGCATCTTTTCTGTTGCCCCATCCACCGCCAGCTTCCCTTCACTCCCCTATCCCATTCTCCCTCTCAAGGCAGGGGTCATAGATCCTAAGCCATAA
AATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCARATAGGTGCTGCRGTCCAGCCCC
CAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAAGAAATTGCAA
AGGACTTGGGGGATAGATGGGAATGGGAGGGCAAACTGCAGCACTTGTTAAATTAATTAAAGAAACAAACCAGAAGCACAAAAACGGGGAAGGAGAGGGG
AGAAGGAGCAGGTCCAGTGTTCCCAGGCCCCCAATTCTGGGGGCAAATGTTGCCACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTC
CAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGTSTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAG
TCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACRCACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCT
TATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGKKGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGKGKGAGC
CAGAAGTCTGAGGKCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGCGGTC
GTGGGAGACGAGGCGGGCGAGCCGCAGCCCCTCGTCCATCAGTGTCTGCTGCAGGATGTGTCGGCTCCATAGCCCATGGGCTGGCAATGCCAGAGGCAGG
TCAG

Protein Sequence    (SEQ ID NO:1372):
MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDTVQHLQASVGEQGEGSTILQHISTLESIYQRDPLKLVATFR
QILQGEKKAVMEQFRHLPMPFHWKQEELKFKTGLRRLQHRVGEIHLLREALQKGAEAGQVSLHSLIETPANGTGPSEALAMLLQETTGELEAAKALVLKR
IQIWKRQQQLAGNGAPFEESLAPLQERCESLVDIYSQLQQEVGAAGGELEPKTRASLTGRLDEVLRTLVTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALFKNLLLKKIKRCERKGTESVTEEKCAVLFSASFTLGPGKLP
IQLQALSLPLVVIVHGNQDNNAKATILWDNAFSEMDRVPFVVAERVPWEKMCETLNLKFMAEVGTNRGLLPEHFLFLAQKIFNDNSLSMEAFQHRSVSWS
QFNKEILLGRGFTFWQWFDGVLDLTKRCLRSYWSDRLIIGFISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
SLGDRIRDLAQLKNLYPKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPELQMPTMVPSYDLGMAPDSSMSMQLGPDMVPQVYPPHSHSI
PPYQGLSPEESVNVLSAFQEPHLQMPPSLGQMSLPFDQPHPQGLLPCQPQEHAVSSPDPLLCSDVTMVEDSCLSQPVTAFPQGTWIGEDIFPPLLPPTEQ
DLTKLLLEGQGESGGGSLGAQPLLQPSHYGQSGISMSHMDLRANPSW


SNP Information

Context             (SEQ ID NO:11716):
CAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
ATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACA
Celera SNP ID:            hCV26439034
SNP Position Transcript:  166
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11717):
GCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTAC
Celera SNP ID:            hCV26439035
SNP Position Transcript:  165
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11718):
TGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTA
Celera SNP ID:            hCV26439036
SNP Position Transcript:  164
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11719):
TTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCT
Celera SNP ID:            hCV26439037
SNP Position Transcript:  163
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11720):
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTGTGTGTGGTGTTGTGATTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGT
Celera SNP ID:            hCV26439038
SNP Position Transcript:  44
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,5)   total(T,5|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11721):
CAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGG
K
CCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGCGGTCGTGGGAGACGAGGC
Celera SNP ID:            hCV620391
SNP Position Transcript:  4714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11722):
AGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTG
K
GAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGC
Celera SNP ID:            hCV620392
SNP Position Transcript:  4696
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11723):
TAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTAC
R
AGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATATATAGCTGGCACCTTAGTTGCATGACCACATAGAACATG
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3538
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(G,2|A,46)   PGA-EUR(EAN-PANEL(G,6|A,40)   total(G,8|A,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11724):
CCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGA
S
AAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCATGCT
Celera SNP ID:            hCV15899890
SNP Position Transcript:  793
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1372, 149, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:11725):
ACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTG
K
GTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCAC
Celera SNP ID:            hCV620393
SNP Position Transcript:  4694
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11726):
CAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGG
R
GTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTAT
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3419
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11727):
TGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAA
Y
GTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGT
Celera SNP ID:            hCV25627527
SNP Position Transcript:  2487
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1372, 713, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11728):
CTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGT
K
GTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGA
Celera SNP ID:            hCV620394
SNP Position Transcript:  4656
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11729):
GCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAG
Y
GACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGT
Celera SNP ID:            hCV25627528
SNP Position Transcript:  2040
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1372, 564, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11730):
CCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGG
K
TGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAG
Celera SNP ID:            hCV620395
SNP Position Transcript:  4655
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11731):
GGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACAAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAAT
R
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
Celera SNP ID:            hCV620397
SNP Position Transcript:  3599
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,5)      total(G,5|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11732):
GGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCA
R
ATAGGTGCTGCGGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATG
Celera SNP ID:            hCV27469920
SNP Position Transcript:  4078
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11733):
ATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACAC
R
CCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAG
Celera SNP ID:            hCV620398
SNP Position Transcript:  3147
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11734):
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
K
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
Celera SNP ID:            hCV29119645
SNP Position Transcript:  3700
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11735):
CATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCT
R
CCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCA
Celera SNP ID:            hCV11964058
SNP Position Transcript:  3829
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11736):
CGAGAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCA
K
GCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGC
Celera SNP ID:            hCV15984983
SNP Position Transcript:  890
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1372, 181, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:11737):
AAAGAGAATGGGAGTGTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCAC
R
CACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGA
Celera SNP ID:            hCV15985124
SNP Position Transcript:  4540
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,43)   total(G,43|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11738):
ACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGT
S
TGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACGCACCCTCCTTGTGTC
Celera SNP ID:            hCV15985125
SNP Position Transcript:  4455
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,1|G,39)   total(G,39|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11739):
CTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCAGATAGGTGCTGC
R
GTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAA
Celera SNP ID:            hCV15985126
SNP Position Transcript:  4090
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,3|G,33)   total(G,33|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11740):
GAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCA
S
AGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTT
Celera SNP ID:            hCV26439031
SNP Position Transcript:  314
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,15)   total(G,15|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Context             (SEQ ID NO:11741):
GGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGAC
Y
TAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCC
Celera SNP ID:            hCV15985136
SNP Position Transcript:  2869
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1372, 841, (L,CTA)   (L,TTA)      



Context             (SEQ ID NO:11742):
GTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTG
K
TGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAG
Celera SNP ID:            hCV26439033
SNP Position Transcript:  211
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1372, None   



Gene Number:                 260
Celera Gene:                 hCG41235 - 79000075624816
Celera Transcript:           hCT2309369 - 79000075624843
Public Transcript Accession: NM_003153
Celera Protein:              hCP1880647 - 197000069413911
Public Protein Accession:    NP_003144
Gene Symbol:                 STAT6
Protein Name:                signal transducer and activator of transcription 6, interleukin-4 induced;D12S1644;IL-4-STAT;STAT6B;STAT6C
Celera Genomic Axis:         GA_x5YUV32W46Y(4766255..4783814)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:676):
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTTGTGATTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTT
GGTGGTGGTGKTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAG
GGAGAAGACAGCASAGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGC
TCTATGTCGACTTTCCCCAACACCTGCGGCATCTTCTGGGTGACTGGCTGGAGAGCCAGCCCTGGGAGTTCCTGGTCGGCTCCGACGCCTTCTGCTGCAA
CTTGGCTAGTGCCCTACTTTCAGACACTGTCCAGCACCTTCAGGCCTCGGTGGGAGAGCAGGGGGAGGGGAGCACCATCTTGCAACACATCAGCACCCTT
GAGAGCATATATCAGAGGGACCCCCTGAAGCTGGTGGCCACTTTCAGACAAATACTTCAAGGAGAGAAAAAAGCTGTTATGGAACAGTTCCGCCACTTGC
CAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGASAAGCCCT
GCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCAKGCTACTGCAG
GAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGCGCACCGTTTG
AGGAGAGCCTGGCCCCACTCCAGGAGAGGTGTGAAAGCCTGGTGGACATTTATTCCCAGCTACAGCAGGAGGTAGGGGCGGCTGGTGGGGAGCTTGAGCC
CAAGACCCGGGCATCGCTGACTGGCCGGCTGGATGAAGTCCTGAGAACCCTCGTCACCAGTTGCTTCCTGGTGGAGAAGCAGCCCCCCCAGGTACTGAAG
ACTCAGACCAAGTTCCAGGCTGGAGTTCGATTCCTGTTGGGCTTGAGGTTCCTGGGGGCCCCAGCCAAGCCTCCGCTGGTCAGGGCCGACATGGTGACAG
AGAAGCAGGCGCGGGAGCTGAGTGTGCCTCAGGGTCCTGGGGCTGGAGCAGAAAGCACTGGAGAAATCATCAACAACACTGTGCCCTTGGAGAACAGCAT
TCCTGGGAACTGCTGCTCTGCCCTGTTCAAGAACCTGCTTCTCAAGAAGATCAAGCGGTGTGAGCGGAAGGGCACTGAGTCTGTCACAGAGGAGAAGTGC
GCTGTGCTCTTCTCTGCCAGCTTCACACTTGGCCCCGGCAAACTCCCCATCCAGCTCCAGGCCCTGTCTCTGCCCCTGGTGGTCATCGTCCATGGCAACC
AAGACAACAATGCCAAAGCCACTATCCTGTGGGACAATGCCTTCTCTGAGATGGACCGCGTGCCCTTTGTGGTGGCTGAGCGGGTGCCCTGGGAGAAGAT
GTGTGAAACTCTGAACCTGAAGTTCATGGCTGAGGTGGGGACCAACCGGGGGCTGCTCCCAGAGCACTTCCTCTTCCTGGCCCAGAAGATCTTCAATGAC
AACAGCCTCAGTATGGAGGCCTTCCAGCACCGTTCTGTGTCCTGGTCGCAGTTCAACAAGGAGATCCTGCTGGGCCGTGGCTTCACCTTTTGGCAGTGGT
TTGATGGTGTCCTGGACCTCACCAAACGCTGTCTCCGGAGCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCT
TCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAGYGACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCA
CAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGTCCATTCGCTCACTGGGGGACCGAATCCGGGATCTTGCTCAGCTCAAAAATCTCTATCCCA
AGAAGCCCAAGGATGAGGCTTTCCGGAGCCACTACAAGCCTGAACAGATGGGTAAGGATGGCAGGGGTTATGTCCCAGCTACCATCAAGATGACCGTGGA
AAGGGACCAACCACTTCCTACCCCAGAGCTCCAGATGCCTACCATGGTGCCTTCTTATGACCTTGGAATGGCCCCTGATTCCTCCATGAGCATGCAGCTT
GGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAAYGTGTTGTCAGCCT
TCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGTGCCAGCCTCAGGA
GCATGCTGTGTCCAGCCCTGACCCCCTGCTCTGCTCAGATGTGACCATGGTGGAAGACAGCTGCCTGAGCCAGCCAGTGACAGCGTTTCCTCAGGGCACT
TGGATTGGTGAAGACATATTCCCTCCTCTGCTGCCTCCCACTGAACAGGACCTCACTAAGCTTCTCCTGGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCT
TGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGACYTAAGGGCCAACCCCAGTTGGTGATCCCAGCT
GGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCCCTGCCAAGCAGCAGATGGGGAGGGTGCCCTC
CTATCCCCACCTACTCCTGGGTCAGGAGGAAAAGACTAACAGGAGAATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCA
CCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACACRCCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGA
GCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAGCACAGGTTAGGGCATGGAAGGCTTCTCCGCCCATTCTGACCCAGGGCCTAGGA
CGGATAGGCAGGAACATACAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCT
GGGTGGGAGCATAGGAGGRGTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGG
AGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACRAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATRT
ATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAAK
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
CTACGTATGGCTCCACACCTCCAATGCTRCCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGC
CTGCTGCATCTTTTCTGTTGCCCCATCCACCGCCAGCTTCCCTTCACTCCCCTATCCCATTCTCCCTCTCAAGGCAGGGGTCATAGATCCTAAGCCATAA
AATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCARATAGGTGCTGCRGTCCAGCCCC
CAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAAGAAATTGCAA
AGGACTTGGGGGATAGATGGGAATGGGAGGGCAAACTGCAGCACTTGTTAAATTAATTAAAGAAACAAACCAGAAGCACAAAAACGGGGAAGGAGAGGGG
AGAAGGAGCAGGTCCAGTGTTCCCAGGCCCCCAATTCTGGGGGCAAATGTTGCCACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTC
CAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGTSTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAG
TCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACRCACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCT
TATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGKKGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGKGKGAGC
CAGAAGTCTGAGGKCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG

Protein Sequence    (SEQ ID NO:1373):
MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDTVQHLQASVGEQGEGSTILQHISTLESIYQRDPLKLVATFR
QILQGEKKAVMEQFRHLPMPFHWKQEELKFKTGLRRLQHRVGEIHLLREALQKGAEAGQVSLHSLIETPANGTGPSEALAMLLQETTGELEAAKALVLKR
IQIWKRQQQLAGNGAPFEESLAPLQERCESLVDIYSQLQQEVGAAGGELEPKTRASLTGRLDEVLRTLVTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALFKNLLLKKIKRCERKGTESVTEEKCAVLFSASFTLGPGKLP
IQLQALSLPLVVIVHGNQDNNAKATILWDNAFSEMDRVPFVVAERVPWEKMCETLNLKFMAEVGTNRGLLPEHFLFLAQKIFNDNSLSMEAFQHRSVSWS
QFNKEILLGRGFTFWQWFDGVLDLTKRCLRSYWSDRLIIGFISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
SLGDRIRDLAQLKNLYPKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPELQMPTMVPSYDLGMAPDSSMSMQLGPDMVPQVYPPHSHSI
PPYQGLSPEESVNVLSAFQEPHLQMPPSLGQMSLPFDQPHPQGLLPCQPQEHAVSSPDPLLCSDVTMVEDSCLSQPVTAFPQGTWIGEDIFPPLLPPTEQ
DLTKLLLEGQGESGGGSLGAQPLLQPSHYGQSGISMSHMDLRANPSW


SNP Information

Context             (SEQ ID NO:11743):
CAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
ATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACA
Celera SNP ID:            hCV26439034
SNP Position Transcript:  166
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11744):
GCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTAC
Celera SNP ID:            hCV26439035
SNP Position Transcript:  165
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11745):
TGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTA
Celera SNP ID:            hCV26439036
SNP Position Transcript:  164
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11746):
TTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCT
Celera SNP ID:            hCV26439037
SNP Position Transcript:  163
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11747):
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTGTGTGTGGTGTTGTGATTGCAATGGGCTCTGTTTGTGAGCCTGCCTGCACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGT
Celera SNP ID:            hCV26439038
SNP Position Transcript:  44
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,5)   total(T,5|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11748):
CAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGG
K
CCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620391
SNP Position Transcript:  4714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11749):
AGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTG
K
GAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620392
SNP Position Transcript:  4696
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11750):
TAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTAC
R
AGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATATATAGCTGGCACCTTAGTTGCATGACCACATAGAACATG
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3538
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(G,2|A,46)   PGA-EUR(EAN-PANEL(G,6|A,40)   total(G,8|A,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11751):
CCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGA
S
AAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCATGCT
Celera SNP ID:            hCV15899890
SNP Position Transcript:  793
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1373, 149, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:11752):
ACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTG
K
GTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620393
SNP Position Transcript:  4694
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11753):
CAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGG
R
GTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTAT
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3419
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11754):
TGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAA
Y
GTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGT
Celera SNP ID:            hCV25627527
SNP Position Transcript:  2487
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1373, 713, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11755):
CTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGT
K
GTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620394
SNP Position Transcript:  4656
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11756):
GCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAG
Y
GACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGT
Celera SNP ID:            hCV25627528
SNP Position Transcript:  2040
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1373, 564, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11757):
CCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGG
K
TGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620395
SNP Position Transcript:  4655
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11758):
GGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACAAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAAT
R
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
Celera SNP ID:            hCV620397
SNP Position Transcript:  3599
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,5)      total(G,5|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11759):
GGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCA
R
ATAGGTGCTGCGGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATG
Celera SNP ID:            hCV27469920
SNP Position Transcript:  4078
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11760):
ATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACAC
R
CCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAG
Celera SNP ID:            hCV620398
SNP Position Transcript:  3147
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11761):
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
K
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
Celera SNP ID:            hCV29119645
SNP Position Transcript:  3700
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11762):
CATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCT
R
CCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCA
Celera SNP ID:            hCV11964058
SNP Position Transcript:  3829
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11763):
CGAGAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCA
K
GCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGC
Celera SNP ID:            hCV15984983
SNP Position Transcript:  890
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1373, 181, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:11764):
AAAGAGAATGGGAGTGTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCAC
R
CACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGA
Celera SNP ID:            hCV15985124
SNP Position Transcript:  4540
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,43)   total(G,43|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11765):
ACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGT
S
TGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACGCACCCTCCTTGTGTC
Celera SNP ID:            hCV15985125
SNP Position Transcript:  4455
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,1|G,39)   total(G,39|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11766):
CTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCAGATAGGTGCTGC
R
GTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAA
Celera SNP ID:            hCV15985126
SNP Position Transcript:  4090
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,3|G,33)   total(G,33|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11767):
GAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCA
S
AGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTT
Celera SNP ID:            hCV26439031
SNP Position Transcript:  314
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,15)   total(G,15|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Context             (SEQ ID NO:11768):
GGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGAC
Y
TAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCC
Celera SNP ID:            hCV15985136
SNP Position Transcript:  2869
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1373, 841, (L,CTA)   (L,TTA)      



Context             (SEQ ID NO:11769):
GTGTGTGTGTGTGTGTGTAGTCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTG
K
TGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAG
Celera SNP ID:            hCV26439033
SNP Position Transcript:  211
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1373, None   



Gene Number:                 260
Celera Gene:                 hCG41235 - 79000075624816
Celera Transcript:           hCT2309366 - 79000075624870
Public Transcript Accession: NM_003153
Celera Protein:              hCP1880648 - 197000069413912
Public Protein Accession:    NP_003144
Gene Symbol:                 STAT6
Protein Name:                signal transducer and activator of transcription 6, interleukin-4 induced;D12S1644;IL-4-STAT;STAT6B;STAT6C
Celera Genomic Axis:         GA_x5YUV32W46Y(4764982..4782948)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:677):
TCCAGGGAGGGACCTGGGTAGAAGGAGAAGCCGGAAACAGCGGGCTGGGGCAGCCACTGCTTACACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTG
TGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGKTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAA
CTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCASAGGGGTTGCCGAGGCAACCTCCAAGTCCCAGAT
CATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTTCCCCAACACCTGCGGCATCTTCTGGGTGACTGG
CTGGAGAGCCAGCCCTGGGAGTTCCTGGTCGGCTCCGACGCCTTCTGCTGCAACTTGGCTAGTGCCCTACTTTCAGACACTGTCCAGCACCTTCAGGCCT
CGGTGGGAGAGCAGGGGGAGGGGAGCACCATCTTGCAACACATCAGCACCCTTGAGAGCATATATCAGAGGGACCCCCTGAAGCTGGTGGCCACTTTCAG
ACAAATACTTCAAGGAGAGAAAAAAGCTGTTATGGAACAGTTCCGCCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGC
TTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGASAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAG
AAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCAKGCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAG
GATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGCGCACCGTTTGAGGAGAGCCTGGCCCCACTCCAGGAGAGGTGTGAAAGCCTGGTGGAC
ATTTATTCCCAGCTACAGCAGGAGGTAGGGGCGGCTGGTGGGGAGCTTGAGCCCAAGACCCGGGCATCGCTGACTGGCCGGCTGGATGAAGTCCTGAGAA
CCCTCGTCACCAGTTGCTTCCTGGTGGAGAAGCAGCCCCCCCAGGTACTGAAGACTCAGACCAAGTTCCAGGCTGGAGTTCGATTCCTGTTGGGCTTGAG
GTTCCTGGGGGCCCCAGCCAAGCCTCCGCTGGTCAGGGCCGACATGGTGACAGAGAAGCAGGCGCGGGAGCTGAGTGTGCCTCAGGGTCCTGGGGCTGGA
GCAGAAAGCACTGGAGAAATCATCAACAACACTGTGCCCTTGGAGAACAGCATTCCTGGGAACTGCTGCTCTGCCCTGTTCAAGAACCTGCTTCTCAAGA
AGATCAAGCGGTGTGAGCGGAAGGGCACTGAGTCTGTCACAGAGGAGAAGTGCGCTGTGCTCTTCTCTGCCAGCTTCACACTTGGCCCCGGCAAACTCCC
CATCCAGCTCCAGGCCCTGTCTCTGCCCCTGGTGGTCATCGTCCATGGCAACCAAGACAACAATGCCAAAGCCACTATCCTGTGGGACAATGCCTTCTCT
GAGATGGACCGCGTGCCCTTTGTGGTGGCTGAGCGGGTGCCCTGGGAGAAGATGTGTGAAACTCTGAACCTGAAGTTCATGGCTGAGGTGGGGACCAACC
GGGGGCTGCTCCCAGAGCACTTCCTCTTCCTGGCCCAGAAGATCTTCAATGACAACAGCCTCAGTATGGAGGCCTTCCAGCACCGTTCTGTGTCCTGGTC
GCAGTTCAACAAGGAGATCCTGCTGGGCCGTGGCTTCACCTTTTGGCAGTGGTTTGATGGTGTCCTGGACCTCACCAAACGCTGTCTCCGGAGCTACTGG
TCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAGYGACTCAG
AGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGTCCATTCG
CTCACTGGGGGACCGAATCCGGGATCTTGCTCAGCTCAAAAATCTCTATCCCAAGAAGCCCAAGGATGAGGCTTTCCGGAGCCACTACAAGCCTGAACAG
ATGGGTAAGGATGGCAGGGGTTATGTCCCAGCTACCATCAAGATGACCGTGGAAAGGGACCAACCACTTCCTACCCCAGAGCTCCAGATGCCTACCATGG
TGCCTTCTTATGACCTTGGAATGGCCCCTGATTCCTCCATGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCAT
CCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAAYGTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGC
CTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGTGCCAGCCTCAGGAGCATGCTGTGTCCAGCCCTGACCCCCTGCTCTGCTCAGATGTGACCA
TGGTGGAAGACAGCTGCCTGAGCCAGCCAGTGACAGCGTTTCCTCAGGGCACTTGGATTGGTGAAGACATATTCCCTCCTCTGCTGCCTCCCACTGAACA
GGACCTCACTAAGCTTCTCCTGGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGG
ATCTCAATGTCCCACATGGACYTAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCT
GCTCTGGACACTTGCTCATGCCCTGCCAAGCAGCAGATGGGGAGGGTGCCCTCCTATCCCCACCTACTCCTGGGTCAGGAGGAAAAGACTAACAGGAGAA
TGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACACR
CCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAG
CACAGGTTAGGGCATGGAAGGCTTCTCCGCCCATTCTGACCCAGGGCCTAGGACGGATAGGCAGGAACATACAGACACATTTACACTAGAGGCCAGGGAT
AGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGGRGTCTGGACATGTGGTTACTAGTACAGGT
TTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACRAGGGCTGAG
ATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATRTATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCT
GCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAAKACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAAT
ACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCTRCCTGGGAGCCAGGGTGAG
AGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCACCGCCAGCTTCCCTTCAC
TCCCCTATCCCATTCTCCCTCTCAAGGCAGGGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACA
ATCTGAAAAGAAAGACGCTCTAACTGCTCARATAGGTGCTGCRGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCA
GTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAAGAAATTGCAAAGGACTTGGGGGATAGATGGGAATGGGAGGGCAAACTGCAGCACTTG
TTAAATTAATTAAAGAAACAAACCAGAAGCACAAAAACGGGGAAGGAGAGGGGAGAAGGAGCAGGTCCAGTGTTCCCAGGCCCCCAATTCTGGGGGCAAA
TGTTGCCACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAA
TGGGAGTSTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACRCACCCTC
CTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGA
TCCAGGGKKGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGKGKGAGCCAGAAGTCTGAGGKCCTGGGTCTGAAGACACCAGTCCAACCCTCACT
GCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGCGGTCGTGGGAGACGAGGCGGGCGAGCCGCAGCCCCTCGTCCATCAGTGTCT
GCTGCAGGATGTGTCGGCTCCATAGCCCATGGGCTGGCAATGCCAGAGGCAGGTCAG

Protein Sequence    (SEQ ID NO:1374):
MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDTVQHLQASVGEQGEGSTILQHISTLESIYQRDPLKLVATFR
QILQGEKKAVMEQFRHLPMPFHWKQEELKFKTGLRRLQHRVGEIHLLREALQKGAEAGQVSLHSLIETPANGTGPSEALAMLLQETTGELEAAKALVLKR
IQIWKRQQQLAGNGAPFEESLAPLQERCESLVDIYSQLQQEVGAAGGELEPKTRASLTGRLDEVLRTLVTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALFKNLLLKKIKRCERKGTESVTEEKCAVLFSASFTLGPGKLP
IQLQALSLPLVVIVHGNQDNNAKATILWDNAFSEMDRVPFVVAERVPWEKMCETLNLKFMAEVGTNRGLLPEHFLFLAQKIFNDNSLSMEAFQHRSVSWS
QFNKEILLGRGFTFWQWFDGVLDLTKRCLRSYWSDRLIIGFISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
SLGDRIRDLAQLKNLYPKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPELQMPTMVPSYDLGMAPDSSMSMQLGPDMVPQVYPPHSHSI
PPYQGLSPEESVNVLSAFQEPHLQMPPSLGQMSLPFDQPHPQGLLPCQPQEHAVSSPDPLLCSDVTMVEDSCLSQPVTAFPQGTWIGEDIFPPLLPPTEQ
DLTKLLLEGQGESGGGSLGAQPLLQPSHYGQSGISMSHMDLRANPSW


SNP Information

Context             (SEQ ID NO:11770):
TAGAAGGAGAAGCCGGAAACAGCGGGCTGGGGCAGCCACTGCTTACACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
ATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACA
Celera SNP ID:            hCV26439034
SNP Position Transcript:  119
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11771):
GTAGAAGGAGAAGCCGGAAACAGCGGGCTGGGGCAGCCACTGCTTACACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTAC
Celera SNP ID:            hCV26439035
SNP Position Transcript:  118
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11772):
GGTAGAAGGAGAAGCCGGAAACAGCGGGCTGGGGCAGCCACTGCTTACACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTA
Celera SNP ID:            hCV26439036
SNP Position Transcript:  117
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11773):
GGGTAGAAGGAGAAGCCGGAAACAGCGGGCTGGGGCAGCCACTGCTTACACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCT
Celera SNP ID:            hCV26439037
SNP Position Transcript:  116
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11774):
CAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGG
K
CCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGCGGTCGTGGGAGACGAGGC
Celera SNP ID:            hCV620391
SNP Position Transcript:  4667
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11775):
AGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTG
K
GAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCACGC
Celera SNP ID:            hCV620392
SNP Position Transcript:  4649
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11776):
TAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTAC
R
AGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATATATAGCTGGCACCTTAGTTGCATGACCACATAGAACATG
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3491
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(G,2|A,46)   PGA-EUR(EAN-PANEL(G,6|A,40)   total(G,8|A,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11777):
CCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGA
S
AAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCATGCT
Celera SNP ID:            hCV15899890
SNP Position Transcript:  746
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1374, 149, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:11778):
ACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTG
K
GTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGAGGTGGCTTCGCAGGCACACAGGGGCTGAGGCGGCCCAC
Celera SNP ID:            hCV620393
SNP Position Transcript:  4647
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11779):
CAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGG
R
GTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTAT
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3372
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11780):
TGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAA
Y
GTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGT
Celera SNP ID:            hCV25627527
SNP Position Transcript:  2440
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1374, 713, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11781):
CTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGT
K
GTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAGA
Celera SNP ID:            hCV620394
SNP Position Transcript:  4609
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11782):
GCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAG
Y
GACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGT
Celera SNP ID:            hCV25627528
SNP Position Transcript:  1993
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1374, 564, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11783):
CCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGG
K
TGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTGCTGCGAG
Celera SNP ID:            hCV620395
SNP Position Transcript:  4608
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11784):
GGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACAAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAAT
R
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
Celera SNP ID:            hCV620397
SNP Position Transcript:  3552
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,5)      total(G,5|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11785):
GGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCA
R
ATAGGTGCTGCGGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATG
Celera SNP ID:            hCV27469920
SNP Position Transcript:  4031
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11786):
ATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACAC
R
CCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAG
Celera SNP ID:            hCV620398
SNP Position Transcript:  3100
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11787):
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
K
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
Celera SNP ID:            hCV29119645
SNP Position Transcript:  3653
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11788):
CATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCT
R
CCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCA
Celera SNP ID:            hCV11964058
SNP Position Transcript:  3782
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11789):
CGAGAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCA
K
GCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGC
Celera SNP ID:            hCV15984983
SNP Position Transcript:  843
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1374, 181, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:11790):
AAAGAGAATGGGAGTGTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCAC
R
CACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGA
Celera SNP ID:            hCV15985124
SNP Position Transcript:  4493
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,43)   total(G,43|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11791):
ACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGT
S
TGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACGCACCCTCCTTGTGTC
Celera SNP ID:            hCV15985125
SNP Position Transcript:  4408
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,1|G,39)   total(G,39|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11792):
CTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCAGATAGGTGCTGC
R
GTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAA
Celera SNP ID:            hCV15985126
SNP Position Transcript:  4043
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,3|G,33)   total(G,33|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11793):
GAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCA
S
AGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTT
Celera SNP ID:            hCV26439031
SNP Position Transcript:  267
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,15)   total(G,15|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Context             (SEQ ID NO:11794):
GGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGAC
Y
TAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCC
Celera SNP ID:            hCV15985136
SNP Position Transcript:  2822
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1374, 841, (L,CTA)   (L,TTA)      



Context             (SEQ ID NO:11795):
CACTGAAGAGGGAGGACGGGAGAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTG
K
TGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAG
Celera SNP ID:            hCV26439033
SNP Position Transcript:  164
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1374, None   



Gene Number:                 260
Celera Gene:                 hCG41235 - 79000075624816
Celera Transcript:           hCT32505 - 79000075624817
Public Transcript Accession: NM_003153
Celera Protein:              hCP51054 - 197000069413910
Public Protein Accession:    NP_003144
Gene Symbol:                 STAT6
Protein Name:                signal transducer and activator of transcription 6, interleukin-4 induced;D12S1644;IL-4-STAT;STAT6B;STAT6C
Celera Genomic Axis:         GA_x5YUV32W46Y(4766255..4782858)
Chromosome:                  Chr12
OMIM number:                 601512
OMIM Information:            SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6;STAT6


Transcript Sequence (SEQ ID NO:678):
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGKTGGAAGGGGGGAGGTGCTAGCAGGGC
CAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCASAGGGGTTGCCGAGGCAACCTCCA
AGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTTCCCCAACACCTGCGGCATCTTCT
GGGTGACTGGCTGGAGAGCCAGCCCTGGGAGTTCCTGGTCGGCTCCGACGCCTTCTGCTGCAACTTGGCTAGTGCCCTACTTTCAGACACTGTCCAGCAC
CTTCAGGCCTCGGTGGGAGAGCAGGGGGAGGGGAGCACCATCTTGCAACACATCAGCACCCTTGAGAGCATATATCAGAGGGACCCCCTGAAGCTGGTGG
CCACTTTCAGACAAATACTTCAAGGAGAGAAAAAAGCTGTTATGGAACAGTTCCGCCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTT
TAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGASAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCAC
AGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCAKGCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAG
TGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGCGCACCGTTTGAGGAGAGCCTGGCCCCACTCCAGGAGAGGTGTGAAAG
CCTGGTGGACATTTATTCCCAGCTACAGCAGGAGGTAGGGGCGGCTGGTGGGGAGCTTGAGCCCAAGACCCGGGCATCGCTGACTGGCCGGCTGGATGAA
GTCCTGAGAACCCTCGTCACCAGTTGCTTCCTGGTGGAGAAGCAGCCCCCCCAGGTACTGAAGACTCAGACCAAGTTCCAGGCTGGAGTTCGATTCCTGT
TGGGCTTGAGGTTCCTGGGGGCCCCAGCCAAGCCTCCGCTGGTCAGGGCCGACATGGTGACAGAGAAGCAGGCGCGGGAGCTGAGTGTGCCTCAGGGTCC
TGGGGCTGGAGCAGAAAGCACTGGAGAAATCATCAACAACACTGTGCCCTTGGAGAACAGCATTCCTGGGAACTGCTGCTCTGCCCTGTTCAAGAACCTG
CTTCTCAAGAAGATCAAGCGGTGTGAGCGGAAGGGCACTGAGTCTGTCACAGAGGAGAAGTGCGCTGTGCTCTTCTCTGCCAGCTTCACACTTGGCCCCG
GCAAACTCCCCATCCAGCTCCAGGCCCTGTCTCTGCCCCTGGTGGTCATCGTCCATGGCAACCAAGACAACAATGCCAAAGCCACTATCCTGTGGGACAA
TGCCTTCTCTGAGATGGACCGCGTGCCCTTTGTGGTGGCTGAGCGGGTGCCCTGGGAGAAGATGTGTGAAACTCTGAACCTGAAGTTCATGGCTGAGGTG
GGGACCAACCGGGGGCTGCTCCCAGAGCACTTCCTCTTCCTGGCCCAGAAGATCTTCAATGACAACAGCCTCAGTATGGAGGCCTTCCAGCACCGTTCTG
TGTCCTGGTCGCAGTTCAACAAGGAGATCCTGCTGGGCCGTGGCTTCACCTTTTGGCAGTGGTTTGATGGTGTCCTGGACCTCACCAAACGCTGTCTCCG
GAGCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTC
AGYGACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACC
TGTCCATTCGCTCACTGGGGGACCGAATCCGGGATCTTGCTCAGCTCAAAAATCTCTATCCCAAGAAGCCCAAGGATGAGGCTTTCCGGAGCCACTACAA
GCCTGAACAGATGGGTAAGGATGGCAGGGGTTATGTCCCAGCTACCATCAAGATGACCGTGGAAAGGGACCAACCACTTCCTACCCCAGAGCTCCAGATG
CCTACCATGGTGCCTTCTTATGACCTTGGAATGGCCCCTGATTCCTCCATGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACT
CTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAAYGTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGG
CCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGTGCCAGCCTCAGGAGCATGCTGTGTCCAGCCCTGACCCCCTGCTCTGCTCA
GATGTGACCATGGTGGAAGACAGCTGCCTGAGCCAGCCAGTGACAGCGTTTCCTCAGGGCACTTGGATTGGTGAAGACATATTCCCTCCTCTGCTGCCTC
CCACTGAACAGGACCTCACTAAGCTTCTCCTGGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGG
GCAATCTGGGATCTCAATGTCCCACATGGACYTAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCC
CCACAGACCTGCTCTGGACACTTGCTCATGCCCTGCCAAGCAGCAGATGGGGAGGGTGCCCTCCTATCCCCACCTACTCCTGGGTCAGGAGGAAAAGACT
AACAGGAGAATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCT
CTGAGACACRCCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGC
TGGGTAAGAGCACAGGTTAGGGCATGGAAGGCTTCTCCGCCCATTCTGACCCAGGGCCTAGGACGGATAGGCAGGAACATACAGACACATTTACACTAGA
GGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGGRGTCTGGACATGTGGTTAC
TAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTAC
RAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATRTATAGCTGGCACCTTAGTTGCATGACCACATAGAACAT
GTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAAKACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTA
ACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCTRCCTGGGAG
CCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCACCGCCAGC
TTCCCTTCACTCCCCTATCCCATTCTCCCTCTCAAGGCAGGGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCT
ACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCARATAGGTGCTGCRGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCC
GAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAAGAAATTGCAAAGGACTTGGGGGATAGATGGGAATGGGAGGGCAAACT
GCAGCACTTGTTAAATTAATTAAAGAAACAAACCAGAAGCACAAAAACGGGGAAGGAGAGGGGAGAAGGAGCAGGTCCAGTGTTCCCAGGCCCCCAATTC
TGGGGGCAAATGTTGCCACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAAC
CTAAAGAGAATGGGAGTSTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACC
ACRCACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGC
AGAGGAAGGATCCAGGGKKGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGKGKGAGCCAGAAGTCTGAGGKCCTGGGTCTGAAGACACCAGTCC
AACCCTCACTG

Protein Sequence    (SEQ ID NO:1375):
MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDTVQHLQASVGEQGEGSTILQHISTLESIYQRDPLKLVATFR
QILQGEKKAVMEQFRHLPMPFHWKQEELKFKTGLRRLQHRVGEIHLLREALQKGAEAGQVSLHSLIETPANGTGPSEALAMLLQETTGELEAAKALVLKR
IQIWKRQQQLAGNGAPFEESLAPLQERCESLVDIYSQLQQEVGAAGGELEPKTRASLTGRLDEVLRTLVTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALFKNLLLKKIKRCERKGTESVTEEKCAVLFSASFTLGPGKLP
IQLQALSLPLVVIVHGNQDNNAKATILWDNAFSEMDRVPFVVAERVPWEKMCETLNLKFMAEVGTNRGLLPEHFLFLAQKIFNDNSLSMEAFQHRSVSWS
QFNKEILLGRGFTFWQWFDGVLDLTKRCLRSYWSDRLIIGFISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
SLGDRIRDLAQLKNLYPKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPELQMPTMVPSYDLGMAPDSSMSMQLGPDMVPQVYPPHSHSI
PPYQGLSPEESVNVLSAFQEPHLQMPPSLGQMSLPFDQPHPQGLLPCQPQEHAVSSPDPLLCSDVTMVEDSCLSQPVTAFPQGTWIGEDIFPPLLPPTEQ
DLTKLLLEGQGESGGGSLGAQPLLQPSHYGQSGISMSHMDLRANPSW


SNP Information

Context             (SEQ ID NO:11796):
TGTGTGTGTGTGTGTGTGTGTGTGTGTG
T
ATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACA
Celera SNP ID:            hCV26439034
SNP Position Transcript:  29
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11797):
TGTGTGTGTGTGTGTGTGTGTGTGTGT
G
TATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTAC
Celera SNP ID:            hCV26439035
SNP Position Transcript:  28
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11798):
TGTGTGTGTGTGTGTGTGTGTGTGTG
T
GTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTA
Celera SNP ID:            hCV26439036
SNP Position Transcript:  27
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|T,8)   total(T,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11799):
TGTGTGTGTGTGTGTGTGTGTGTGT
G
TGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTGGTGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCT
Celera SNP ID:            hCV26439037
SNP Position Transcript:  26
SNP Source:               Celera
Population(Allele,Count): no_pop(-,6|G,8)   total(G,8|-,6) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11800):
CAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGG
K
CCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620391
SNP Position Transcript:  4577
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11801):
AGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTG
K
GAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620392
SNP Position Transcript:  4559
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11802):
TAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTAC
R
AGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAATATATAGCTGGCACCTTAGTTGCATGACCACATAGAACATG
Celera SNP ID:            hCV7480847
SNP Position Transcript:  3401
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   PGA-AFRICAN-PANEL(G,2|A,46)   PGA-EUR(EAN-PANEL(G,6|A,40)   total(G,8|A,86)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11803):
CCACTTGCCAATGCCTTTCCACTGGAAGCAGGAAGAACTCAAGTTTAAGACAGGCTTGCGGAGGCTGCAGCACCGAGTAGGGGAGATCCACCTTCTCCGA
S
AAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCATGCT
Celera SNP ID:            hCV15899890
SNP Position Transcript:  656
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1375, 149, (Q,CAA)   (E,GAA)      



Context             (SEQ ID NO:11804):
ACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGTTGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTG
K
GTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620393
SNP Position Transcript:  4557
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11805):
CAGACACATTTACACTAGAGGCCAGGGATAGAGGATATTGGGTCTCAGCCCTAGGGGAATGGGAAGCAGCTCAAGGGACCCTGGGTGGGAGCATAGGAGG
R
GTCTGGACATGTGGTTACTAGTACAGGTTTTGCCCTGATTAAAAAATCTCCCAAAGCCCCAAATTCCTGTTAGCCAGGTGGAGGCTTCTGATACGTGTAT
Celera SNP ID:            hCV7480848
SNP Position Transcript:  3282
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,7)      total(G,7|A,1) ;no_pop(G,-|A,-)   no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,11|G,35)   PGA-EUR(EAN-PANEL(A,20|G,24)   total(G,59|A,31)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11806):
TGAGCATGCAGCTTGGCCCAGATATGGTGCCCCAGGTGTACCCACCACACTCTCACTCCATCCCCCCGTATCAAGGCCTCTCCCCAGAAGAATCAGTCAA
Y
GTGTTGTCAGCCTTCCAGGAGCCTCACCTGCAGATGCCCCCCAGCCTGGGCCAGATGAGCCTGCCCTTTGACCAGCCTCACCCCCAGGGCCTGCTGCCGT
Celera SNP ID:            hCV25627527
SNP Position Transcript:  2350
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1375, 713, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:11807):
CTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGGT
K
GTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620394
SNP Position Transcript:  4519
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11808):
GCTACTGGTCTGACCGGCTGATCATTGGCTTCATCAGCAAACAGTACGTTACTAGCCTTCTTCTCAATGAGCCCGACGGAACCTTTCTCCTCCGCTTCAG
Y
GACTCAGAGATTGGGGGCATCACCATTGCCCATGTCATCCGGGGCCAGGATGGCTCTCCACAGATAGAGAACATCCAGCCATTCTCTGCCAAAGACCTGT
Celera SNP ID:            hCV25627528
SNP Position Transcript:  1903
SNP Source:               Applera
Population(Allele,Count): african american(C,32)   caucasian(C,31|T,1)   total(C,63|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1375, 564, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11809):
CCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGAGGAAGGATCCAGGG
K
TGTGACTAGATTCCGGGGATGGAGAGCGTGGGGGTCTGTGTGAGCCAGAAGTCTGAGGTCCTGGGTCTGAAGACACCAGTCCAACCCTCACTG
Celera SNP ID:            hCV620395
SNP Position Transcript:  4518
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11810):
GGAGGCTTCTGATACGTGTATGAGACTATGCAAAAGTACAAGGGCTGAGATTCTTCGTGTATAGCTGTGTGAACGTGTATGTACCTAGGATATGTTAAAT
R
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
Celera SNP ID:            hCV620397
SNP Position Transcript:  3462
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,5)      total(G,5|A,5) ;no_pop(G,-|A,-)   ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11811):
GGGTCATAGATCCTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCA
R
ATAGGTGCTGCGGTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATG
Celera SNP ID:            hCV27469920
SNP Position Transcript:  3941
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11812):
ATGCACAGTGGGTGGAGCCAATCCACTCCTTCCTTTCTATCATTCCCCTGCCCACCTCCTTCCAGCACTGACTGGAAGGGAAGTTCAGGCTCTGAGACAC
R
CCCCAACATGCCTGCACCTGCAGCGCGCACACGCACGCACACACACATACAGAGCTCTCTGAGGGTGATGGGGCTGAGCAGGAGGGGGGCTGGGTAAGAG
Celera SNP ID:            hCV620398
SNP Position Transcript:  3010
SNP Source:               Celera;HGBASE;dbSNP
Population(Allele,Count): no_pop(G,5|A,8)      total(G,5|A,8) ;no_pop(G,-|A,-)   ;no_pop(A,-|G,-)   PGA-AFRICAN-PANEL(A,8|G,40)   PGA-EUR(EAN-PANEL(A,16|G,30)   total(G,70|A,24)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11813):
TATAGCTGGCACCTTAGTTGCATGACCACATAGAACATGTGTCTATCTGCTTTTGCCTACGTGACAACACAAATTTGGGAGGGTGAGACACTGCACAGAA
K
ACAGCAGCAAGTGTGCTGGCCTCTCTGACATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACAT
Celera SNP ID:            hCV29119645
SNP Position Transcript:  3563
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11814):
CATATGCTAACCCCCAAATACTCTGAATTTGGAGTCTGACTGTGCCCAAGTGGGTCCAAGTGGCTGTGACATCTACGTATGGCTCCACACCTCCAATGCT
R
CCTGGGAGCCAGGGTGAGAGTCTGGGTCCAGGCCTGGCCATGTGGCCCTCCAGTGTATGAGAGGGCCCTGCCTGCTGCATCTTTTCTGTTGCCCCATCCA
Celera SNP ID:            hCV11964058
SNP Position Transcript:  3692
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11815):
CGAGAAGCCCTGCAGAAGGGGGCTGAGGCTGGCCAAGTGTCTCTGCACAGCTTGATAGAAACTCCTGCTAATGGGACTGGGCCAAGTGAGGCCCTGGCCA
K
GCTACTGCAGGAGACCACTGGAGAGCTAGAGGCAGCCAAAGCCCTAGTGCTGAAGAGGATCCAGATTTGGAAACGGCAGCAGCAGCTGGCAGGGAATGGC
Celera SNP ID:            hCV15984983
SNP Position Transcript:  753
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1375, 181, (R,AGG)   (M,ATG)      



Context             (SEQ ID NO:11816):
AAAGAGAATGGGAGTGTGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCAC
R
CACCCTCCTTGTGTCCTCTCTCCAGGCCTCTGCTTGTTATTGCTTGAAGCCCCACAGTCTTATGCCCATGGAGCAGGTGGGGAGGCAGGAGAAGGGCAGA
Celera SNP ID:            hCV15985124
SNP Position Transcript:  4403
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,1|G,43)   total(G,43|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11817):
ACTTTTAGCTGGACCTTCCCAGGGAAGTCCCCCTTTCCCCCTTGTCCAAACTGAGTCCAACTGCTCACACCACTGGTGCAAACCTAAAGAGAATGGGAGT
S
TGTTGTGTGAGGGAGGGGAAAACCCCAGATGCCCTGGAGGCAGAGTCCTTGCCCCCTCGCTCTGGGCAGGGGTGAGGGCACCACGCACCCTCCTTGTGTC
Celera SNP ID:            hCV15985125
SNP Position Transcript:  4318
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(C,1|G,39)   total(G,39|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11818):
CTAAGCCATAAAATAAATTTTATTCCAAAATAACAAAATAAATAATCTACTGTACACAATCTGAAAAGAAAGACGCTCTAACTGCTCAGATAGGTGCTGC
R
GTCCAGCCCCCAGCTGGAGGAGACCCTGAGTCCAACCCAGGCCTCCCGAGGGGGCCAGTGAAGGGATCCCACACCCACCGCCCCTATGTAGGGCAGGGAA
Celera SNP ID:            hCV15985126
SNP Position Transcript:  3953
SNP Source:               dbSNP
Population(Allele,Count): PGA-EUR(EAN-PANEL(A,3|G,33)   total(G,33|A,3) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11819):
GAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAGCA
S
AGGGGTTGCCGAGGCAACCTCCAAGTCCCAGATCATGTCTCTGTGGGGTCTGGTCTCCAAGATGCCCCCAGAAAAAGTGCAGCGGCTCTATGTCGACTTT
Celera SNP ID:            hCV26439031
SNP Position Transcript:  177
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,15)   total(G,15|C,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Context             (SEQ ID NO:11820):
GGAGGGGCAAGGGGAGTCGGGGGGAGGGTCCTTGGGGGCACAGCCCCTCCTGCAGCCCTCCCACTATGGGCAATCTGGGATCTCAATGTCCCACATGGAC
Y
TAAGGGCCAACCCCAGTTGGTGATCCCAGCTGGAGGGAGAACCCAAAGAGACAGCTCTTCTACTACCCCCACAGACCTGCTCTGGACACTTGCTCATGCC
Celera SNP ID:            hCV15985136
SNP Position Transcript:  2732
SNP Source:               dbSNP
Population(Allele,Count): PGA-AFRICAN-PANEL(T,1|C,47)   total(C,47|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1375, 841, (L,CTA)   (L,TTA)      



Context             (SEQ ID NO:11821):
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGCTTTATCTTATTTTTCTTTTTGGTGGTGGTG
K
TGGAAGGGGGGAGGTGCTAGCAGGGCCAGCCTTGAACTCGCTGGACAGAGCTACAGACCTATGGGGCCTGGAAGTGCCCGCTGAGAAAGGGAGAAGACAG
Celera SNP ID:            hCV26439033
SNP Position Transcript:  74
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1375, None   



Gene Number:                 261
Celera Gene:                 hCG41475 - 145000147777958
Celera Transcript:           hCT32746 - 145000147777959
Public Transcript Accession: NM_004771
Celera Protein:              hCP51353 - 197000069364708
Public Protein Accession:    NP_004762
Gene Symbol:                 MMP20
Protein Name:                matrix metalloproteinase 20 (enamelysin);MMP-20
Celera Genomic Axis:         GA_x5YUV32VVY5(12478012..12526167)
Chromosome:                  Chr11
OMIM number:                 604629
OMIM Information:            MATRIX METALLOPROTEINASE 20;MMP20


Transcript Sequence (SEQ ID NO:679):
CTACTGTGAGGGGATGAAGGTGCTCCCTGCATCTGGCCTTGCTGTCTTCCTCATCATGGCTTTGAMGTTTTCCACTGCAGCCCCCTCCCTAGTTGCAGCC
TCCCYCAGGACCTGGAGGAACAACTACCGCCTCGCACAGGCGTATCTTGACAAATATTACACAAATAAAGAAGGACACCAGATTGGTGAGATGGTTGCAA
GAGGAAGCAATTCCATGATAAGGAAGATTAAGGAGCTACAAGCGTTCTTTGGCCTCCAAGTCACCGGGAAGTTAGACCAGACCACARTGAACGTGATCAA
GAAGCCTCGCTGTGGAGTTCCTGATGTGGCCAATTATCGCCTCTTCCCTGGTGAACCCAAATGGAAAAAAAATACTTTGACATACAGAATATCTAAATAC
AYACCTTCCATGAGTTCTGTCGAGGTGGACAAAGCAGTGGAGATGGCCTTGCAGGCCTGGAGTAGCGCCGTCCCTCTGAGCTTTGTCAGAATAAACTCAG
GAGAAGCGGATATTATGATATCTTTTGAAAATGGAGATCACGGGGATTCCTATCCATTCGATGGGCCTCGGGGGACTCTAGCCCATGCATTTGCTCCTGG
AGAAGGCCTGGGAGGAGATACACATTTCGACAATGCTGAGAAGTGGACTATGGGAACGAATGGTTTTAATTTGTTTACCGTTGCTGCTCATGAATTTGGC
CATGCCCTGGGCCTGGCCCATTCCACAGACCCATCAGCACTGATRTACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATG
TGAAAGGGATCCAGGCATTATAYGGACCTCGGAAAGYATTCCTGGGGAAGCCCAMTCTGCCCCATGCCCCCCATCACAAGCCWTCCATCCCTGACCTCTG
TGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTCTTCAAGGACCGWATTTTCTGGAGACGGCAGGTTCACTTGCGGACA
GGAATTCGGCCCAGCACTATTACCAGCTCCTTCCCCCAGCTCATGTCCAATGTGGATGCAGCTTACGAAGTGGCTGAGAGGGGCACTGCTTACTTCTTCA
AAGGTCCCCACTACTGGATAACAAGAGGATTCCAAATGCAAGGTCCTCCTCGGACTATTTATGACTTTGGATTTCCAAGGCACGTGCAGCAAATAGATGC
TGCTGTCTACCTCAGGGAGCCACAGAAGACCCTTTTCTTTGTGGGAGATGAATACTACAGCTACGACGAAAGGAAAAGGAAAATGGAAAAAGACTATCCA
AAGAATACTGAAGAAGAATTTTCAGGAGTAAATGGCCAAATCGATGCTGCTGTAGAATTAAATGGCTACATTTACTTCTTTTCAGGACCAAAAACATACA
AGTATGACACAGAGAAGGAAGATGTGGTTAGTGTGGTGAAATCTAGTTCCTGGATTGGTTGCTAAATAGAAAAGCCTAGTCTTCTCAAGCAATGAGGATG
ACTACAAGCAGCCTCTAACTGGATCTTAAGGACTAAAGCAGAATGTAGGAGAGGGATTCTTCCAAAGGCCTTCAAATCAAATTAGAATTCACTGAGAATA
ATAATACTTCCAATTTTTTTCATAGTTGTATAATCAGAATTTCAATCCACATTAGAAAAGTTTTTATATGGGCAACTTTATGCGAAATCCAAATCAACAC
AATGCACTCTGCAGTTAGACACCATTATTTTTTCTTACCTAATATACTGAAGCAGATTGATCCGTTTGATTTTTATTTCCAGGAGGAAGACTAGTGGTGG
ATTCCATGACATATATTGTAATTCTTTTCATAGGAAATGTCATTACAGTATGAATTATAATTATTTACAAGCAATGGCTTTTGTGGCCATCWTTTGGCCA
TCATTTGTTATAATAAATATAAATTTCCCAATTTTTACTTAAAAGACATCACAACAAAA

Protein Sequence    (SEQ ID NO:1376):
MKVLPASGLAVFLIMALTFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEMVARGSNSMIRKIKELQAFFGLQVTGKLDQTTMNVIKKPRC
GVPDVANYRLFPGEPKWKKNTLTYRISKYTPSMSSVEVDKAVEMALQAWSSAVPLSFVRINSGEADIMISFENGDHGDSYPFDGPRGTLAHAFAPGEGLG
GDTHFDNAEKWTMGTNGFNLFTVAAHEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKPTLPHAPHHKPSIPDLCDSSS
SFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAAYEVAERGTAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYL
REPQKTLFFVGDEYYSYDERKRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIGC


SNP Information

Context             (SEQ ID NO:11822):
TATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCTCGGAAAGTATTCCTGGGGAAGCCCA
M
TCTGCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTC
Celera SNP ID:            hCV7492701
SNP Position Transcript:  855
SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,25)   caucasian(A,14|C,22)   total(A,23|C,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 281, (N,AAT)   (T,ACT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,3|C,11)      total(A,3|C,11) ;no_pop(C,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 281, (N,AAT)   (T,ACT)      



Context             (SEQ ID NO:11823):
CTACTGTGAGGGGATGAAGGTGCTCCCTGCATCTGGCCTTGCTGTCTTCCTCATCATGGCTTTGA
M
GTTTTCCACTGCAGCCCCCTCCCTAGTTGCAGCCTCCCCCAGGACCTGGAGGAACAACTACCGCCTCGCACAGGCGTATCTTGACAAATATTACACAAAT
Celera SNP ID:            hCV12088577
SNP Position Transcript:  66
SNP Source:               Applera
Population(Allele,Count): african american(A,12|C,26)   caucasian(A,16|C,22)   total(A,28|C,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 18, (K,AAG)   (T,ACG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,5|C,7)      total(A,5|C,7) ;JBIC-allele(A,211|C,1280)   total(A,211|C,1280)   no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 18, (K,AAG)   (T,ACG)      18, (T,ACG)   (K,AAG)      



Context             (SEQ ID NO:11824):
ACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCTCGGAAAGTATTCCTGGGGAAGCCCACTCTGCCCCATGCCCCCCATCACAAGCC
W
TCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTCTTCAAGGACCGGATTTTCTGGAGACGGC
Celera SNP ID:            hCV25628190
SNP Position Transcript:  883
SNP Source:               Applera
Population(Allele,Count): african american(A,33|T,1)   caucasian(A,38)   total(A,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1376, 290, (P,CCA)   (P,CCT)   



Context             (SEQ ID NO:11825):
GCACTGATGTACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCTCGGAAAG
Y
ATTCCTGGGGAAGCCCACTCTGCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTG
Celera SNP ID:            hCV7492697
SNP Position Transcript:  837
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,26)   caucasian(C,15|T,23)   total(C,23|T,49)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 275, (A,GCA)   (V,GTA)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,3|T,10)      total(C,3|T,10) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 275, (A,GCA)   (V,GTA)      



Context             (SEQ ID NO:11826):
TGTGAGGGGATGAAGGTGCTCCCTGCATCTGGCCTTGCTGTCTTCCTCATCATGGCTTTGACGTTTTCCACTGCAGCCCCCTCCCTAGTTGCAGCCTCCC
Y
CAGGACCTGGAGGAACAACTACCGCCTCGCACAGGCGTATCTTGACAAATATTACACAAATAAAGAAGGACACCAGATTGGTGAGATGGTTGCAAGAGGA
Celera SNP ID:            hCV25628174
SNP Position Transcript:  105
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,37|T,1)   total(C,75|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 31, (P,CCC)   (L,CTC)   



Context             (SEQ ID NO:11827):
CCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTCTTCAAGGACCG
W
ATTTTCTGGAGACGGCAGGTTCACTTGCGGACAGGAATTCGGCCCAGCACTATTACCAGCTCCTTCCCCCAGCTCATGTCCAATGTGGATGCAGCTTACG
Celera SNP ID:            hCV25628175
SNP Position Transcript:  967
SNP Source:               Applera
Population(Allele,Count): african american(A,26)   caucasian(A,37|T,1)   total(A,63|T,1)
SNP Type:                 ACCEPTOR SPLICE SITE
Protein Coding:           SEQ ID NO:1376, None



Context             (SEQ ID NO:11828):
TGAGATGGTTGCAAGAGGAAGCAATTCCATGATAAGGAAGATTAAGGAGCTACAAGCGTTCTTTGGCCTCCAAGTCACCGGGAAGTTAGACCAGACCACA
R
TGAACGTGATCAAGAAGCCTCGCTGTGGAGTTCCTGATGTGGCCAATTATCGCCTCTTCCCTGGTGAACCCAAATGGAAAAAAAATACTTTGACATACAG
Celera SNP ID:            hCV25628176
SNP Position Transcript:  287
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,38)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 92, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11829):
GGACTATGGGAACGAATGGTTTTAATTTGTTTACCGTTGCTGCTCATGAATTTGGCCATGCCCTGGGCCTGGCCCATTCCACAGACCCATCAGCACTGAT
R
TACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCTCGGAAAGTATTCCTGG
Celera SNP ID:            hCV25628185
SNP Position Transcript:  745
SNP Source:               Applera
Population(Allele,Count): african american(G,34)   caucasian(A,1|G,37)   total(A,1|G,71)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 244, (I,ATA)   (M,ATG)   



Context             (SEQ ID NO:11830):
AAGCCTCGCTGTGGAGTTCCTGATGTGGCCAATTATCGCCTCTTCCCTGGTGAACCCAAATGGAAAAAAAATACTTTGACATACAGAATATCTAAATACA
Y
ACCTTCCATGAGTTCTGTCGAGGTGGACAAAGCAGTGGAGATGGCCTTGCAGGCCTGGAGTAGCGCCGTCCCTCTGAGCTTTGTCAGAATAAACTCAGGA
Celera SNP ID:            hCV25628179
SNP Position Transcript:  402
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,32|T,2)   total(C,66|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1376, 130, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:11831):
CCACAGACCCATCAGCACTGATGTACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATA
Y
GGACCTCGGAAAGTATTCCTGGGGAAGCCCACTCTGCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACG
Celera SNP ID:            hCV25628189
SNP Position Transcript:  823
SNP Source:               Applera
Population(Allele,Count): african american(C,24|T,4)   caucasian(C,36)   total(C,60|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1376, 270, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11832):
TAGTGGTGGATTCCATGACATATATTGTAATTCTTTTCATAGGAAATGTCATTACAGTATGAATTATAATTATTTACAAGCAATGGCTTTTGTGGCCATC
W
TTTGGCCATCATTTGTTATAATAAATATAAATTTCCCAATTTTTACTTAAAAGACATCACAACAAAA
Celera SNP ID:            hCV15969107
SNP Position Transcript:  1892
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(T,-|A,-)    ;no_pop(T,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1376, None   



Gene Number:                 262
Celera Gene:                 hCG41527 - 83000099133445
Celera Transcript:           hCT1962599 - 83000099133469
Public Transcript Accession: NM_014349
Celera Protein:              hCP1777160 - 197000064930359
Public Protein Accession:    NP_055164
Gene Symbol:                 APOL3
Protein Name:                apolipoprotein L, 3;APOLIII;CG12-1
Celera Genomic Axis:         GA_x5YUV32VU5C(14605136..14625708)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:680):
ATGGGACTGGGCCAAGGGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCC
AGGGTATATCTCAGAGMCTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACAYAGCTCAGAACAGCTGGATCTTGCTCACA
CTCTTTCAAGAGAAGCTTCCTTGGACAAAAGGACCCTGCCTTGGTGTGAGAGTGAGGGCAGAGGGAGCTGGAGCAAGTAGAATTTCTCTAAATACCAGCT
GGCTGGGGCCCAGGAGATTAAAAAACACCGGGCTAGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGCTCCAWGGAAAGTCTC
TCAGTGACCTGGCTGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCA
AATCCTGCTGACTAACAATGAAGCCTGGAAGAGATTYGTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTT
AGAACATATGCAGCTATTGAGGACGAATATGTGCAGCAGAAAGATGAGCAGTTTAGGGAATGGTTTTTGAAAGAGTTTCCCCAAGTCAAGAGGAAGATCC
AGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAAYGTGGTGTCCAGCTCCACTGGCGCTGC
CTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCT
GCTRTGACTGGGATCACCACCAGCATCGTGGAGCACTCATAYACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGMTTGA
AGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCCGTGC
CATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGGWGGTCAAGCAGAGAGAACGATTGCAGGCACCACC
CGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATGTGGTCAACCTTGTATACGAGTCAAAGCACTTGC
ATGAGGGGGCAAAGTCTGCATCTGCTGAGGAGCTGAGGCGGCAGGCTCAGGAGCTGGAGGAGAATCTAATGGAGCTCACTCAGATCTATCAGCGTCTGAA
TCCATGCCATACCCACTGACCCCAGACCAGTGCAGCCAGCAGGGGAGGTGAGCCATACACAGGCCACGACAAAATGCAGGCATTTTATTAGGGGGATAAA
GAGGGCAAGGTAAAGTTTATGGAGCTGAGTGTTAGTGACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCA
AGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGARGAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATA
TTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAGCAATGAGAAGGCCAGGAAAAGAAAGAGCTGAAAATGCAGAAAGCCGAAGAGTTAGAACTTTT
GGATACAGCAGAAGAAACAGCGGCTCCACTACCGACCTGCCCCCGGTTCGATGTCCTTCCAAGAATGAAGTCTTTCCCTGGTGATGGTCCCCTGCCCTGT
CTTTCCAGCATCCACTCTGTCTTGTCCTCCTGGAAGTGTATCTCAGTCAGCCAGTGGCTTCTTGATGATGGCGGTGGAGGTGGTGGTTGTAGTGTGATGG
ATCCCCTTTAGGTTATTTAGGGGTATATGTCCCCTGCTTGAACCCTGAAGGCCAGGTAATGAGCCATGGCCATTGTCCCCAGCTGAGGACCAGGTGTCTC
TAAAAACCCAAACATCCTGGAGAGTATGCGAGAACCTACCAAGAAAAACAGTCTCATTACTCATATACAGCAGGCAAAGAGACAGAAAATTAACTGAAAA
GCAGTTTAGAGACTGGGGGAGGCCGGATCTCTAGAGCCATCCTGCTGAGTGCCCTGTGTGTAAGTCCTAATAAACTCACCTACTCACCAAGCTGGA

Protein Sequence    (SEQ ID NO:1377):
MDSEKKRFTEEATKYFRERVSPVHLQILLTNNEAWKRFVTAAELPRDEADALYEALKKLRTYAAIEDEYVQQKDEQFREWFLKEFPQVKRKIQESIEKLR
ALANGIEEVHRGCTISNVVSSSTGAASGIMSLAGLVLAPFTAGTSLALTAAGVGLGAASAVTGITTSIVEHSYTSSAEAEASRLTATSIDRLKVFKEVMR
DITPNLLSLLNNYYEATQTIGSEIRAIRQARARARLPVTTWRISAGSGGQAERTIAGTTRAVSRGARILSATTSGIFLALDVVNLVYESKHLHEGAKSAS
AEELRRQAQELEENLMELTQIYQRLNPCHTH


SNP Information

Context             (SEQ ID NO:11833):
ACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGA
R
GAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAG
Celera SNP ID:            hCV9210923
SNP Position Transcript:  1638
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1377, None   



Context             (SEQ ID NO:11834):
AAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGG
W
GGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATG
Celera SNP ID:            hCV1088426
SNP Position Transcript:  1167
SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,29)   caucasian(A,18|T,20)   total(A,25|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 248, (G,GGA)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(A,533|T,948)   total(A,533|T,948)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 248, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11835):
CGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCG
M
TTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCC
Celera SNP ID:            hCV1088427
SNP Position Transcript:  996
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 191, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:11836):
AGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTGACTAACAATGAAGCCTGGAAGAGATT
Y
GTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATGCAGCTATTGAGGACGAATATGTGCAGC
Celera SNP ID:            hCV25628431
SNP Position Transcript:  537
SNP Source:               Applera
Population(Allele,Count): african american(C,22)   caucasian(C,1|T,1)   total(C,23|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 38, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:11837):
TTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATA
Y
ACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTAC
Celera SNP ID:            hCV25628432
SNP Position Transcript:  942
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,1)   total(C,39|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 173, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11838):
TGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCT
R
TGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGT
Celera SNP ID:            hCV22271781
SNP Position Transcript:  904
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,5|G,19)   total(A,6|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1377, 161, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11839):
AAATACCAGCTGGCTGGGGCCCAGGAGATTAAAAAACACCGGGCTAGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGCTCCA
W
GGAAAGTCTCTCAGTGACCTGGCTGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAG
Celera SNP ID:            hCV15845
SNP Position Transcript:  390
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,33|T,7)   total(A,68|T,8)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1377, None

SNP Source:               dbSNP
Population(Allele,Count): African American (pooled) - WICGR(A,100)   no_pop(T,-|A,-)   Asian (pooled) - WICGR(T,3|A,81)   Caucasian (pooled) - WICGR(T,14|A,82)   total(A,263|T,17) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1377, None   



Context             (SEQ ID NO:11840):
GGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAG
M
CTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACACAGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCT
Celera SNP ID:            hCV26581155
SNP Position Transcript:  117
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,8)      total(A,8|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1377, None   



Context             (SEQ ID NO:11841):
TGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAGACTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACA
Y
AGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCTTCCTTGGACAAAAGGACCCTGCCTTGGTGTGAGAGTGAGGGCAGAGGGAGCTGGA
Celera SNP ID:            hCV11748981
SNP Position Transcript:  172
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,9)   total(C,9|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1377, None   



Context             (SEQ ID NO:11842):
AGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAA
Y
GTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAG
Celera SNP ID:            hCV22271779
SNP Position Transcript:  774
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,28)   caucasian(C,7|T,15)   total(C,11|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 117, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,554|C,931)   total(C,931|T,554) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1377, 117, (N,AAC)   (N,AAT)      



Gene Number:                 262
Celera Gene:                 hCG41527 - 83000099133445
Celera Transcript:           hCT1962600 - 83000099133461
Public Transcript Accession: NM_014349
Celera Protein:              hCP1777166 - 197000064930358
Public Protein Accession:    NP_055164
Gene Symbol:                 APOL3
Protein Name:                apolipoprotein L, 3;APOLIII;CG12-1
Celera Genomic Axis:         GA_x5YUV32VU5C(14605136..14625708)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:681):
ATGGGACTGGGCCAAGGGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCC
AGGGTATATCTCAGAGMCTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACAYAGCTCAGAACAGCTGGATCTTGCTCACA
CTCTTTCAAGAGAAGCTTCCTTGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGCTCCAWGGAAAGTCTCTCAGTGACCTGGC
TGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTGACT
AACAATGAAGCCTGGAAGAGATTYGTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATGCAG
CTATTGAGGACGAATATGTGCAGCAGAAAGATGAGCAGTTTAGGGAATGGTTTTTGAAAGAGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCATAGA
AAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAAYGTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATCATG
TCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTRTGACTGGGA
TCACCACCAGCATCGTGGAGCACTCATAYACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGMTTGAAGGTATTTAAGGA
AGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAAGCC
AGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGGWGGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGAGCA
GAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATGTGGTCAACCTTGTATACGAGTCAAAGCACTTGCATGAGGGGGCAAA
GTCTGCATCTGCTGAGGAGCTGAGGCGGCAGGCTCAGGAGCTGGAGGAGAATCTAATGGAGCTCACTCAGATCTATCAGCGTCTGAATCCATGCCATACC
CACTGACCCCAGACCAGTGCAGCCAGCAGGGGAGGTGAGCCATACACAGGCCACGACAAAATGCAGGCATTTTATTAGGGGGATAAAGAGGGCAAGGTAA
AGTTTATGGAGCTGAGTGTTAGTGACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGCAGG
AATGCTGGAGCCTGGAATAAGGGARGAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAGGAA
TAGAGGGGAGGTGTGCAGGAACCAGCAATGAGAAGGCCAGGAAAAGAAAGAGCTGAAAATGCAGAAAGCCGAAGAGTTAGAACTTTTGGATACAGCAGAA
GAAACAGCGGCTCCACTACCGACCTGCCCCCGGTTCGATGTCCTTCCAAGAATGAAGTCTTTCCCTGGTGATGGTCCCCTGCCCTGTCTTTCCAGCATCC
ACTCTGTCTTGTCCTCCTGGAAGTGTATCTCAGTCAGCCAGTGGCTTCTTGATGATGGCGGTGGAGGTGGTGGTTGTAGTGTGATGGATCCCCTTTAGGT
TATTTAGGGGTATATGTCCCCTGCTTGAACCCTGAAGGCCAGGTAATGAGCCATGGCCATTGTCCCCAGCTGAGGACCAGGTGTCTCTAAAAACCCAAAC
ATCCTGGAGAGTATGCGAGAACCTACCAAGAAAAACAGTCTCATTACTCATATACAGCAGGCAAAGAGACAGAAAATTAACTGAAAAGCAGTTTAGAGAC
TGGGGGAGGCCGGATCTCTAGAGCCATCCTGCTGAGTGCCCTGTGTGTAAGTCCTAATAAACTCACCTACTCACCAAGCTGGA

Protein Sequence    (SEQ ID NO:1378):
MDSEKKRFTEEATKYFRERVSPVHLQILLTNNEAWKRFVTAAELPRDEADALYEALKKLRTYAAIEDEYVQQKDEQFREWFLKEFPQVKRKIQESIEKLR
ALANGIEEVHRGCTISNVVSSSTGAASGIMSLAGLVLAPFTAGTSLALTAAGVGLGAASAVTGITTSIVEHSYTSSAEAEASRLTATSIDRLKVFKEVMR
DITPNLLSLLNNYYEATQTIGSEIRAIRQARARARLPVTTWRISAGSGGQAERTIAGTTRAVSRGARILSATTSGIFLALDVVNLVYESKHLHEGAKSAS
AEELRRQAQELEENLMELTQIYQRLNPCHTH


SNP Information

Context             (SEQ ID NO:11843):
ACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGA
R
GAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAG
Celera SNP ID:            hCV9210923
SNP Position Transcript:  1525
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1378, None   



Context             (SEQ ID NO:11844):
AAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGG
W
GGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATG
Celera SNP ID:            hCV1088426
SNP Position Transcript:  1054
SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,29)   caucasian(A,18|T,20)   total(A,25|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 248, (G,GGA)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(A,533|T,948)   total(A,533|T,948)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 248, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11845):
CGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCG
M
TTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCC
Celera SNP ID:            hCV1088427
SNP Position Transcript:  883
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 191, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:11846):
AGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTGACTAACAATGAAGCCTGGAAGAGATT
Y
GTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATGCAGCTATTGAGGACGAATATGTGCAGC
Celera SNP ID:            hCV25628431
SNP Position Transcript:  424
SNP Source:               Applera
Population(Allele,Count): african american(C,22)   caucasian(C,1|T,1)   total(C,23|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 38, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:11847):
TTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATA
Y
ACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTAC
Celera SNP ID:            hCV25628432
SNP Position Transcript:  829
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,1)   total(C,39|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 173, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11848):
TGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCT
R
TGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGT
Celera SNP ID:            hCV22271781
SNP Position Transcript:  791
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,5|G,19)   total(A,6|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1378, 161, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11849):
CAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCTTCCTTGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGCTCCA
W
GGAAAGTCTCTCAGTGACCTGGCTGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAG
Celera SNP ID:            hCV15845
SNP Position Transcript:  277
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,33|T,7)   total(A,68|T,8)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1378, None

SNP Source:               dbSNP
Population(Allele,Count): African American (pooled) - WICGR(A,100)   no_pop(T,-|A,-)   Asian (pooled) - WICGR(T,3|A,81)   Caucasian (pooled) - WICGR(T,14|A,82)   total(A,263|T,17) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1378, None   



Context             (SEQ ID NO:11850):
GGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAG
M
CTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACACAGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCT
Celera SNP ID:            hCV26581155
SNP Position Transcript:  117
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,8)      total(A,8|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1378, None   



Context             (SEQ ID NO:11851):
TGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAGACTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACA
Y
AGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCTTCCTTGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGC
Celera SNP ID:            hCV11748981
SNP Position Transcript:  172
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,9)   total(C,9|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1378, None   



Context             (SEQ ID NO:11852):
AGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAA
Y
GTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAG
Celera SNP ID:            hCV22271779
SNP Position Transcript:  661
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,28)   caucasian(C,7|T,15)   total(C,11|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 117, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,554|C,931)   total(C,931|T,554) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1378, 117, (N,AAC)   (N,AAT)      



Gene Number:                 262
Celera Gene:                 hCG41527 - 83000099133445
Celera Transcript:           hCT1962598 - 83000099133454
Public Transcript Accession: NM_014349
Celera Protein:              hCP1777150 - 197000064930356
Public Protein Accession:    NP_055164
Gene Symbol:                 APOL3
Protein Name:                apolipoprotein L, 3;APOLIII;CG12-1
Celera Genomic Axis:         GA_x5YUV32VU5C(14605136..14625708)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:682):
ATGGGACTGGGCCAAGGGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCC
AGGGTATATCTCAGAGMCTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACAYAGCTCAGAACAGCTGGATCTTGCTCACA
CTCTTTCAAGAGAAGCTTCCTTGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTG
ACTAACAATGAAGCCTGGAAGAGATTYGTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATG
CAGCTATTGAGGACGAATATGTGCAGCAGAAAGATGAGCAGTTTAGGGAATGGTTTTTGAAAGAGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCAT
AGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAAYGTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATC
ATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTRTGACTG
GGATCACCACCAGCATCGTGGAGCACTCATAYACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGMTTGAAGGTATTTAA
GGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAA
GCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGGWGGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGA
GCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATGTGGTCAACCTTGTATACGAGTCAAAGCACTTGCATGAGGGGGC
AAAGTCTGCATCTGCTGAGGAGCTGAGGCGGCAGGCTCAGGAGCTGGAGGAGAATCTAATGGAGCTCACTCAGATCTATCAGCGTCTGAATCCATGCCAT
ACCCACTGACCCCAGACCAGTGCAGCCAGCAGGGGAGGTGAGCCATACACAGGCCACGACAAAATGCAGGCATTTTATTAGGGGGATAAAGAGGGCAAGG
TAAAGTTTATGGAGCTGAGTGTTAGTGACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGC
AGGAATGCTGGAGCCTGGAATAAGGGARGAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAG
GAATAGAGGGGAGGTGTGCAGGAACCAGCAATGAGAAGGCCAGGAAAAGAAAGAGCTGAAAATGCAGAAAGCCGAAGAGTTAGAACTTTTGGATACAGCA
GAAGAAACAGCGGCTCCACTACCGACCTGCCCCCGGTTCGATGTCCTTCCAAGAATGAAGTCTTTCCCTGGTGATGGTCCCCTGCCCTGTCTTTCCAGCA
TCCACTCTGTCTTGTCCTCCTGGAAGTGTATCTCAGTCAGCCAGTGGCTTCTTGATGATGGCGGTGGAGGTGGTGGTTGTAGTGTGATGGATCCCCTTTA
GGTTATTTAGGGGTATATGTCCCCTGCTTGAACCCTGAAGGCCAGGTAATGAGCCATGGCCATTGTCCCCAGCTGAGGACCAGGTGTCTCTAAAAACCCA
AACATCCTGGAGAGTATGCGAGAACCTACCAAGAAAAACAGTCTCATTACTCATATACAGCAGGCAAAGAGACAGAAAATTAACTGAAAAGCAGTTTAGA
GACTGGGGGAGGCCGGATCTCTAGAGCCATCCTGCTGAGTGCCCTGTGTGTAAGTCCTAATAAACTCACCTACTCACCAAGCTGGA

Protein Sequence    (SEQ ID NO:1379):
MGLGQGWGWEASCFACLIRSCCQVVTFTFPFGFQGISQRLENVSGYYADARLEVGSTQLRTAGSCSHSFKRSFLEKKRFTEEATKYFRERVSPVHLQILL
TNNEAWKRFVTAAELPRDEADALYEALKKLRTYAAIEDEYVQQKDEQFREWFLKEFPQVKRKIQESIEKLRALANGIEEVHRGCTISNVVSSSTGAASGI
MSLAGLVLAPFTAGTSLALTAAGVGLGAASAVTGITTSIVEHSYTSSAEAEASRLTATSIDRLKVFKEVMRDITPNLLSLLNNYYEATQTIGSEIRAIRQ
ARARARLPVTTWRISAGSGGQAERTIAGTTRAVSRGARILSATTSGIFLALDVVNLVYESKHLHEGAKSASAEELRRQAQELEENLMELTQIYQRLNPCH
TH


SNP Information

Context             (SEQ ID NO:11853):
ACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGA
R
GAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAG
Celera SNP ID:            hCV9210923
SNP Position Transcript:  1428
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1379, None   



Context             (SEQ ID NO:11854):
AAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGG
W
GGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATG
Celera SNP ID:            hCV1088426
SNP Position Transcript:  957
SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,29)   caucasian(A,18|T,20)   total(A,25|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 319, (G,GGA)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(A,533|T,948)   total(A,533|T,948)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 319, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11855):
CGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCG
M
TTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCC
Celera SNP ID:            hCV1088427
SNP Position Transcript:  786
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 262, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:11856):
AGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTGACTAACAATGAAGCCTGGAAGAGATT
Y
GTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATGCAGCTATTGAGGACGAATATGTGCAGC
Celera SNP ID:            hCV25628431
SNP Position Transcript:  327
SNP Source:               Applera
Population(Allele,Count): african american(C,22)   caucasian(C,1|T,1)   total(C,23|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 109, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:11857):
TTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATA
Y
ACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTAC
Celera SNP ID:            hCV25628432
SNP Position Transcript:  732
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,1)   total(C,39|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 244, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11858):
GGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAG
M
CTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACACAGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCT
Celera SNP ID:            hCV26581155
SNP Position Transcript:  117
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,8)      total(A,8|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1379, 39, (R,AGA)   (S,AGC)      39, (S,AGC)   (R,AGA)      



Context             (SEQ ID NO:11859):
TGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCT
R
TGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGT
Celera SNP ID:            hCV22271781
SNP Position Transcript:  694
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,5|G,19)   total(A,6|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1379, 232, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11860):
TGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAGACTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACA
Y
AGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCTTCCTTGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGT
Celera SNP ID:            hCV11748981
SNP Position Transcript:  172
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,9)   total(C,9|T,2) 
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1379, 58, (Q,CAG)   (X,TAG)      



Context             (SEQ ID NO:11861):
AGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAA
Y
GTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAG
Celera SNP ID:            hCV22271779
SNP Position Transcript:  564
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,28)   caucasian(C,7|T,15)   total(C,11|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 188, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,554|C,931)   total(C,931|T,554) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1379, 188, (N,AAC)   (N,AAT)      



Gene Number:                 262
Celera Gene:                 hCG41527 - 83000099133445
Celera Transcript:           hCT32799 - 83000099133446
Public Transcript Accession: NM_014349
Celera Protein:              hCP51402 - 197000064930355
Public Protein Accession:    NP_055164
Gene Symbol:                 APOL3
Protein Name:                apolipoprotein L, 3;APOLIII;CG12-1
Celera Genomic Axis:         GA_x5YUV32VU5C(14605136..14625708)
Chromosome:                  Chr22
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:683):
ATGGGACTGGGCCAAGGGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCC
AGGGTATATCTCAGAGMCTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACAYAGCTCAGAACAGCTGGATCTTGCTCACA
CTCTTTCAAGAGAAGCTTCCTTGGACAAAAGGACCCTGCCTTGGTGTGAGAGTGAGGGCAGAGGGAGCTGGAGCAAGTAGAATTTCTCTAAATACCAGCT
GGCTGGGGCCCAGGAGATTAAAAAACACCGGGCTAGGTTGGTCTTGGCATTTGCTGACACGCAAAGGGATTGCAGAGATCCAGCCCCTCCAACCTCCCTC
TGTCCACAGGTGGCTCACATTCAGTCCCACAATTTGCTTTCTCCTCCTCAAGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAG
CTCCAWGGAAAGTCTCTCAGTGACCTGGCTGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCA
GCCCAGTGCATCTGCAAATCCTGCTGACTAACAATGAAGCCTGGAAGAGATTYGTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGA
AGCTCTGAAGAAGCTTAGAACATATGCAGCTATTGAGGACGAATATGTGCAGCAGAAAGATGAGCAGTTTAGGGAATGGTTTTTGAAAGAGTTTCCCCAA
GTCAAGAGGAAGATCCAGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAAYGTGGTGTCCA
GCTCCACTGGCGCTGCCTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGG
GCTGGGAGCAGCGTCTGCTRTGACTGGGATCACCACCAGCATCGTGGAGCACTCATAYACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACC
AGCATTGACCGMTTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTG
GGAGTGAAATCCGTGCCATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGGWGGTCAAGCAGAGAGAAC
GATTGCAGGCACCACCCGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATGTGGTCAACCTTGTATAC
GAGTCAAAGCACTTGCATGAGGGGGCAAAGTCTGCATCTGCTGAGGAGCTGAGGCGGCAGGCTCAGGAGCTGGAGGAGAATCTAATGGAGCTCACTCAGA
TCTATCAGCGTCTGAATCCATGCCATACCCACTGACCCCAGACCAGTGCAGCCAGCAGGGGAGGTGAGCCATACACAGGCCACGACAAAATGCAGGCATT
TTATTAGGGGGATAAAGAGGGCAAGGTAAAGTTTATGGAGCTGAGTGTTAGTGACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCA
GATGGCAAGTGCACCAAGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGARGAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTT
TAGACTAACGAATATATTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAGCAATGAGAAGGCCAGGAAAAGAAAGAGCTGAAAATGCAGAAAGCCG
AAGAGTTAGAACTTTTGGATACAGCAGAAGAAACAGCGGCTCCACTACCGACCTGCCCCCGGTTCGATGTCCTTCCAAGAATGAAGTCTTTCCCTGGTGA
TGGTCCCCTGCCCTGTCTTTCCAGCATCCACTCTGTCTTGTCCTCCTGGAAGTGTATCTCAGTCAGCCAGTGGCTTCTTGATGATGGCGGTGGAGGTGGT
GGTTGTAGTGTGATGGATCCCCTTTAGGTTATTTAGGGGTATATGTCCCCTGCTTGAACCCTGAAGGCCAGGTAATGAGCCATGGCCATTGTCCCCAGCT
GAGGACCAGGTGTCTCTAAAAACCCAAACATCCTGGAGAGTATGCGAGAACCTACCAAGAAAAACAGTCTCATTACTCATATACAGCAGGCAAAGAGACA
GAAAATTAACTGAAAAGCAGTTTAGAGACTGGGGGAGGCCGGATCTCTAGAGCCATCCTGCTGAGTGCCCTGTGTGTAAGTCCTAATAAACTCACCTACT
CACCAAGCTGGA

Protein Sequence    (SEQ ID NO:1380):
MDSEKKRFTEEATKYFRERVSPVHLQILLTNNEAWKRFVTAAELPRDEADALYEALKKLRTYAAIEDEYVQQKDEQFREWFLKEFPQVKRKIQESIEKLR
ALANGIEEVHRGCTISNVVSSSTGAASGIMSLAGLVLAPFTAGTSLALTAAGVGLGAASAVTGITTSIVEHSYTSSAEAEASRLTATSIDRLKVFKEVMR
DITPNLLSLLNNYYEATQTIGSEIRAIRQARARARLPVTTWRISAGSGGQAERTIAGTTRAVSRGARILSATTSGIFLALDVVNLVYESKHLHEGAKSAS
AEELRRQAQELEENLMELTQIYQRLNPCHTH


SNP Information

Context             (SEQ ID NO:11862):
ACTTTGGCATTTCTGTAGCTGAGCACAGCAGGGGAGGGGTTAATGCAGATGGCAAGTGCACCAAGGAGAAGGCAGGAATGCTGGAGCCTGGAATAAGGGA
R
GAGAGGGGACTGGAGAGTGTGGGGAATAGGAAGAAGAAATTTCCTTTAGACTAACGAATATATTGGGGGGAGGAATAGAGGGGAGGTGTGCAGGAACCAG
Celera SNP ID:            hCV9210923
SNP Position Transcript:  1754
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,7)   total(G,7|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1380, None   



Context             (SEQ ID NO:11863):
AAGCCACACAAACCATTGGGAGTGAAATCCGTGCCATCAGGCAAGCCAGAGCCAGGGCCCGACTCCCTGTGACCACCTGGCGAATCTCAGCTGGAAGTGG
W
GGTCAAGCAGAGAGAACGATTGCAGGCACCACCCGGGCAGTGAGCAGAGGAGCCCGGATCCTGAGTGCGACCACTTCAGGCATCTTCCTTGCACTGGATG
Celera SNP ID:            hCV1088426
SNP Position Transcript:  1283
SNP Source:               Applera
Population(Allele,Count): african american(A,7|T,29)   caucasian(A,18|T,20)   total(A,25|T,49)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 248, (G,GGA)   (G,GGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|A,-)   JBIC-allele(A,533|T,948)   total(A,533|T,948)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 248, (G,GGA)   (G,GGT)      



Context             (SEQ ID NO:11864):
CGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCG
M
TTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTACTTTCCCTTCTTAATAATTATTACGAAGCCACACAAACCATTGGGAGTGAAATCC
Celera SNP ID:            hCV1088427
SNP Position Transcript:  1112
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 191, (R,CGA)   (R,CGC)      



Context             (SEQ ID NO:11865):
AGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAGTGCATCTGCAAATCCTGCTGACTAACAATGAAGCCTGGAAGAGATT
Y
GTGACTGCGGCTGAATTGCCCAGGGATGAGGCAGATGCTCTCTACGAAGCTCTGAAGAAGCTTAGAACATATGCAGCTATTGAGGACGAATATGTGCAGC
Celera SNP ID:            hCV25628431
SNP Position Transcript:  653
SNP Source:               Applera
Population(Allele,Count): african american(C,22)   caucasian(C,1|T,1)   total(C,23|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 38, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:11866):
TTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCTGTGACTGGGATCACCACCAGCATCGTGGAGCACTCATA
Y
ACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGTATTTAAGGAAGTTATGCGTGACATCACACCCAACTTAC
Celera SNP ID:            hCV25628432
SNP Position Transcript:  1058
SNP Source:               Applera
Population(Allele,Count): african american(C,8)   caucasian(C,31|T,1)   total(C,39|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 173, (Y,TAC)   (Y,TAT)   



Context             (SEQ ID NO:11867):
TGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAGCTGGGGTAGGGCTGGGAGCAGCGTCTGCT
R
TGACTGGGATCACCACCAGCATCGTGGAGCACTCATACACATCATCAGCAGAAGCTGAAGCCAGCAGGCTGACTGCAACCAGCATTGACCGATTGAAGGT
Celera SNP ID:            hCV22271781
SNP Position Transcript:  1020
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,5)   caucasian(A,5|G,19)   total(A,6|G,24)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1380, 161, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11868):
ACAGGTGGCTCACATTCAGTCCCACAATTTGCTTTCTCCTCCTCAAGGGTTAAGAAAAAAAACGAACCCTTCCAGTCAGGTCAGTGACTGGAGAGCTCCA
W
GGAAAGTCTCTCAGTGACCTGGCTGCTGGCACCATGGACTCAGAAAAGAAACGCTTTACTGAAGAGGCCACCAAATACTTCCGGGAGAGAGTCAGCCCAG
Celera SNP ID:            hCV15845
SNP Position Transcript:  506
SNP Source:               Applera
Population(Allele,Count): african american(A,35|T,1)   caucasian(A,33|T,7)   total(A,68|T,8)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1380, None

SNP Source:               dbSNP
Population(Allele,Count): African American (pooled) - WICGR(A,100)   no_pop(T,-|A,-)   Asian (pooled) - WICGR(T,3|A,81)   Caucasian (pooled) - WICGR(T,14|A,82)   total(A,263|T,17) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1380, None   



Context             (SEQ ID NO:11869):
GGTGGGGCTGGGAAGCATCCTGTTTTGCATGTTTGATCAGGAGCTGCTGCCAAGTTGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAG
M
CTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACACAGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCT
Celera SNP ID:            hCV26581155
SNP Position Transcript:  117
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,4|A,8)      total(A,8|C,4) ;no_pop(A,-|C,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1380, None   



Context             (SEQ ID NO:11870):
TGTGACTTTCACTTTCCCTTTTGGGTTCCAGGGTATATCTCAGAGACTGGAGAACGTGTCTGGTTATTATGCAGATGCACGGCTGGAGGTGGGATCCACA
Y
AGCTCAGAACAGCTGGATCTTGCTCACACTCTTTCAAGAGAAGCTTCCTTGGACAAAAGGACCCTGCCTTGGTGTGAGAGTGAGGGCAGAGGGAGCTGGA
Celera SNP ID:            hCV11748981
SNP Position Transcript:  172
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,9)   total(C,9|T,2) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1380, None   



Context             (SEQ ID NO:11871):
AGTTTCCCCAAGTCAAGAGGAAGATCCAGGAGTCCATAGAAAAGCTTCGTGCCCTTGCAAATGGTATTGAAGAGGTCCACAGAGGCTGCACCATCTCCAA
Y
GTGGTGTCCAGCTCCACTGGCGCTGCCTCTGGCATCATGTCCCTTGCTGGTCTTGTTTTGGCACCATTTACAGCAGGGACGAGTCTGGCCCTTACTGCAG
Celera SNP ID:            hCV22271779
SNP Position Transcript:  890
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,28)   caucasian(C,7|T,15)   total(C,11|T,43)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 117, (N,AAC)   (N,AAT)   

SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,554|C,931)   total(C,931|T,554) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1380, 117, (N,AAC)   (N,AAT)      



Gene Number:                 263
Celera Gene:                 hCG41767 - 146000220214940
Celera Transcript:           hCT2312818 - 146000220214955
Public Transcript Accession: NM_007002
Celera Protein:              hCP1857168 - 197000069370302
Public Protein Accession:    NP_008933
Gene Symbol:                 ADRM1
Protein Name:                adhesion regulating molecule 1;GP110;MGC29536
Celera Genomic Axis:         GA_x5YUV32VYHA(1986043..1993240)
Chromosome:                  Chr20
OMIM number:                 601033
OMIM Information:            LAMININ, ALPHA-5;LAMA5


Transcript Sequence (SEQ ID NO:684):
CGACTGCCGCCTTTTTACCCTGTGGCCTTTCCCATCCAGGCGTCCAGAGGGTTAGAGCCGGCTGCGCGGCTTACGGGGCTCAATCGGCGGCGAGAGCGGC
AGGCGGGGCGGGCCGAACGCGGGTTTCCGGCGGGGCCCGGCAGGCGCCGAGGAGGAAGAGCGAGCCCGGACGGCGCCTCTCGAACGAGTGTGGGCGCGAG
GCAGGATGACGACCTCAGGCGCGCTCTTTCCAAGCCTGGTGCCAGGCTCTCGGGGCGCCTCCAACAAGTACTTGGTGGAGTTTCGGGCGGGAAAGATGTC
CCTGAAGGGGACCACCGTGACTCCGGATAAGCGGAAAGGGCTGGTGTACATTCAGCAGACGGACGACTCGCTTATTCACTTCTGCTGGAAGGACAGGACG
TCCGGGAACGTGGAAGACGACTTGATCATCTTCCCTGACGACTGTGAGTTCAAGCGGGTGCCGCAGTGCCCCAGCGGGAGGGTCTACGTGCTGAAGTTCA
AGGCAGGGTCCAAGCGGCTTTTCTTCTGGATGCAGGAACCCAAGACAGACCAGGATGAGGAGCATTGCCGGAAAGTCAACGAGTATCTGAACAACCCCCC
GATGCCTGGGGCRCTGGGGGCCAGCGGAAGCAGCGGCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCAC
AGCCAGCTCATGCAGCTCATCGGACCAGCCGGCCTYGGAGGACTGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTG
GGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGAGCCAGTCKGCAGCGGTCACCCCGTCATCCACCACCTCTTCCACCCGTGCCACCCCAGCCCCTTC
TGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCAGTTCCGGGAATGGAGCCAGCACAGCAGCCAGMCCGACCCAGCCCATCCAGCTGAGC
GACCTCCAGAGCATCCTGGCCACGATGAACGTACCAGCCGGGCCAGCAGGCGGCCAGCAAGTGGACCTGGCCAGTGTGCTGACGCCGGAGATAATGGCTC
CCATCCTCGCCAACGCGGATGTCCAGGAGCGCCTGCTTCCCTACTTGCCATCTGGGGAGTCGCTGCCGCAGACCGCGGATGAGATCCAGAATACCCTGAC
CTCGCCCCAGTTCCAGCAGGCCCTGGGCATGTTCAGCGCAGCCTTGGCCTCGGGGCAGCTGGGCCCCCTCATGTGCCAGTTCGGTCTGCCTGCAGAGGCT
GTGGAGGCCGCCAACAAGGGCGATGTGGAAGCGTTTGCCAAAGCCATGCAGAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACAMGAAGG
ACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAGSAACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATT
ATTAATAAAGTCTTTTCTTTTACCTGCCAAYGCTTAGTTTCTTTGCCCAAAGGGAGTTTCGGCTGGACAGGTGCTAGCGTGGGGAGCTGCTGTAGGGTCC
CAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGAAGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGAYCTGTCTTGAGACTHT
CTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAATTTTTAAGGAGGAACCAGTGATGATTGGTGACAAATCTCTCACAATTAAA
AATGGGTGGAAGGGCCAAATATAAAAACATTTTGCAGTATTTTATTCTTTCGTTTAAGAAGCTATAACTTAAACCATCTTCAGAAACAAGATCTGTCACC
CGTAGAGCTTAGAGTCCAAATAGACACCTATGAGGCGAGCACAAGGRGCGGTGTGAG

Protein Sequence    (SEQ ID NO:1381):
MTTSGALFPSLVPGSRGASNKYLVEFRAGKMSLKGTTVTPDKRKGLVYIQQTDDSLIHFCWKDRTSGNVEDDLIIFPDDCEFKRVPQCPSGRVYVLKFKA
GSKRLFFWMQEPKTDQDEEHCRKVNEYLNNPPMPGALGASGSSGHELSALGGEGGLQSLLGNMSHSQLMQLIGPAGLGGLGGLGALTGPGLASLLGSSGP
PGSSSSSSSRSQSAAVTPSSTTSSTRATPAPSAPAAASATSPSPAPSSGNGASTAASPTQPIQLSDLQSILATMNVPAGPAGGQQVDLASVLTPEIMAPI
LANADVQERLLPYLPSGESLPQTADEIQNTLTSPQFQQALGMFSAALASGQLGPLMCQFGLPAEAVEAANKGDVEAFAKAMQNNAKPEQKEGDTKDKKDE
EEDMSLD


SNP Information

Context             (SEQ ID NO:11872):
CCCAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGAAGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGACCTGTCTTGAGACT
H
TCTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAATTTTTAAGGAGGAACCAGTGATGATTGGTGACAAATCTCTCACAATTAA
Celera SNP ID:            hCV8524515
SNP Position Transcript:  1699
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,1|T,1|-,9)   total(A,1|C,1|-,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1381, None   



Context             (SEQ ID NO:11873):
CCACGCGCCGTCCTCCGAGGAACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATTATTAATAAAGTCTTTTCTTTTACCTGCCAA
Y
GCTTAGTTTCTTTGCCCAAAGGGAGTTTCGGCTGGACAGGTGCTAGCGTGGGGAGCTGCTGTAGGGTCCCAGAGACAGTTAGTTATTTGACCTAACAACG
Celera SNP ID:            hCV16232654
SNP Position Transcript:  1531
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1381, None   



Context             (SEQ ID NO:11874):
CTTTCGTTTAAGAAGCTATAACTTAAACCATCTTCAGAAACAAGATCTGTCACCCGTAGAGCTTAGAGTCCAAATAGACACCTATGAGGCGAGCACAAGG
R
GCGGTGTGAG
Celera SNP ID:            hCV27469526
SNP Position Transcript:  1947
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1381, None   



Context             (SEQ ID NO:11875):
TGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGAGCCAGTC
K
GCAGCGGTCACCCCGTCATCCACCACCTCTTCCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCA
Celera SNP ID:            hCV25629414
SNP Position Transcript:  844
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,1)   caucasian(G,40)   total(G,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 213, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11876):
GAGGCTGTGGAGGCCGCCAACAAGGGCGATGTGGAAGCGTTTGCCAAAGCCATGCAGAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACA
M
GAAGGACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAGGAACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCAC
Celera SNP ID:            hCV25762443
SNP Position Transcript:  1395
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,35|C,1)   total(A,71|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1381, 397, (K,AAG)   (T,ACG)   



Context             (SEQ ID NO:11877):
GCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGCAGCTCATCGGACCAGCCGGCCT
Y
GGAGGACTGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGA
Celera SNP ID:            hCV25629417
SNP Position Transcript:  736
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,40)   total(C,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 177, (L,CTC)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 177, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:11878):
AGAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACAAGAAGGACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAG
S
AACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATTATTAATAAAGTCTTTTCTTTTACCTGCCAACGCTTAGTTTCTTTGCCCAA
Celera SNP ID:            hCV7549274
SNP Position Transcript:  1450
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1381, None   



Context             (SEQ ID NO:11879):
AGCGGCTTTTCTTCTGGATGCAGGAACCCAAGACAGACCAGGATGAGGAGCATTGCCGGAAAGTCAACGAGTATCTGAACAACCCCCCGATGCCTGGGGC
R
CTGGGGGCCAGCGGAAGCAGCGGCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGC
Celera SNP ID:            hCV16232596
SNP Position Transcript:  613
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,11)   caucasian(A,33|G,1)   total(A,52|G,12)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 136, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,12)   caucasian(A,38|G,2)   total(A,58|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 136, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1381, 136, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11880):
CCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCAGTTCCGGGAATGGAGCCAGCACAGCAGCCAG
M
CCGACCCAGCCCATCCAGCTGAGCGACCTCCAGAGCATCCTGGCCACGATGAACGTACCAGCCGGGCCAGCAGGCGGCCAGCAAGTGGACCTGGCCAGTG
Celera SNP ID:            hCV7549283
SNP Position Transcript:  976
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1381, 257, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:11881):
AGCTGCTGTAGGGTCCCAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGAAGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGA
Y
CTGTCTTGAGACTCTCTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAATTTTTAAGGAGGAACCAGTGATGATTGGTGACAAA
Celera SNP ID:            hCV1763935
SNP Position Transcript:  1685
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,9)      total(C,9|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1381, None   



Gene Number:                 263
Celera Gene:                 hCG41767 - 146000220214940
Celera Transcript:           hCT33040 - 146000220214941
Public Transcript Accession: NM_007002
Celera Protein:              hCP51605 - 197000069370300
Public Protein Accession:    NP_008933
Gene Symbol:                 ADRM1
Protein Name:                adhesion regulating molecule 1;GP110;MGC29536
Celera Genomic Axis:         GA_x5YUV32VYHA(1986043..1992437)
Chromosome:                  Chr20
OMIM number:                 601033
OMIM Information:            LAMININ, ALPHA-5;LAMA5


Transcript Sequence (SEQ ID NO:685):
GTTAGAGCCGGCTGCGCGGCTTACGGGGCTCAATCGGCGGCGAGAGCGGCAGGCGGGGCGGGCCGAACGCGGGTTTCCGGCGGGGCCCGGCAGGCGCCGA
GGAGGAAGAGCGAGCCCGGACGGCGCCTCTCGAACGAGTGTGGGCGCGAGGCAGGATGACGACCTCAGGCGCGCTCTTTCCAAGCCTGGTGCCAGGCTCT
CGGGGCGCCTCCAACAAGTACTTGGTGGAGTTTCGGGCGGGAAAGATGTCCCTGAAGGGGACCACCGTGACTCCGGATAAGCGGAAAGGGCTGGTGTACA
TTCAGCAGACGGACGACTCGCTTATTCACTTCTGCTGGAAGGACAGGACGTCCGGGAACGTGGAAGACGACTTGATCATCTTCCCTGACGACTGTGAGTT
CAAGCGGGTGCCGCAGTGCCCCAGCGGGAGGGTCTACGTGCTGAAGTTCAAGGCAGGGTCCAAGCGGCTTTTCTTCTGGATGCAGGAACCCAAGACAGAC
CAGGATGAGGAGCATTGCCGGAAAGTCAACGAGTATCTGAACAACCCCCCGATGCCTGGGGCRCTGGGGGCCAGCGGAAGCAGCGGCCACGAACTCTCTG
CGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGCAGCTCATCGGACCAGCCGGCCTYGGAGGACTGGGTGG
GCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGAGCCAGTCKGCAGCG
GTCACCCCGTCATCCACCACCTCTTCCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCAGTTCCG
GGAATGGAGCCAGCACAGCAGCCAGMCCGACCCAGCCCATCCAGCTGAGCGACCTCCAGAGCATCCTGGCCACGATGAACGTACCAGCCGGGCCAGCAGG
CGGCCAGCAAGTGGACCTGGCCAGTGTGCTGACGCCGGAGATAATGGCTCCCATCCTCGCCAACGCGGATGTCCAGGAGCGCCTGCTTCCCTACTTGCCA
TCTGGGGAGTCGCTGCCGCAGACCGCGGATGAGATCCAGAATACCCTGACCTCGCCCCAGTTCCAGCAGGCCCTGGGCATGTTCAGCGCAGCCTTGGCCT
CGGGGCAGCTGGGCCCCCTCATGTGCCAGTTCGGTCTGCCTGCAGAGGCTGTGGAGGCCGCCAACAAGGGCGATGTGGAAGCGTTTGCCAAAGCCATGCA
GAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACAMGAAGGACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAGS
AACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATTATTAATAAAGTCTTTTCTTTTACCTGCCAAYGCTTAGTTTCTTTGCCCAA
AGGGAGTTTCGGCTGGACAGGTGCTAGCGTGGGGAGCTGCTGTAGGGTCCCAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGA
AGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGAYCTGTCTTGAGACTHTCTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAA
TTTTTAAGGAGGAACCAGTGATGATTGGTGACAAATCTCTCACAATTAAAAATGGGTGGAAGGGCCAAATATAAAAACATTTTGCAGTATTTTATTCTTT
CGTTTAAGAAGCTATAACTTAAACCATCTTCAGAAACAAGATCTGTCACCCGTAGAGCTTAGAGTCCAAATAGACACCTATGAGGCGAGCACAAGGRGCG
GTGTGAG

Protein Sequence    (SEQ ID NO:1382):
MTTSGALFPSLVPGSRGASNKYLVEFRAGKMSLKGTTVTPDKRKGLVYIQQTDDSLIHFCWKDRTSGNVEDDLIIFPDDCEFKRVPQCPSGRVYVLKFKA
GSKRLFFWMQEPKTDQDEEHCRKVNEYLNNPPMPGALGASGSSGHELSALGGEGGLQSLLGNMSHSQLMQLIGPAGLGGLGGLGALTGPGLASLLGSSGP
PGSSSSSSSRSQSAAVTPSSTTSSTRATPAPSAPAAASATSPSPAPSSGNGASTAASPTQPIQLSDLQSILATMNVPAGPAGGQQVDLASVLTPEIMAPI
LANADVQERLLPYLPSGESLPQTADEIQNTLTSPQFQQALGMFSAALASGQLGPLMCQFGLPAEAVEAANKGDVEAFAKAMQNNAKPEQKEGDTKDKKDE
EEDMSLD


SNP Information

Context             (SEQ ID NO:11882):
CCCAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGAAGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGACCTGTCTTGAGACT
H
TCTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAATTTTTAAGGAGGAACCAGTGATGATTGGTGACAAATCTCTCACAATTAA
Celera SNP ID:            hCV8524515
SNP Position Transcript:  1649
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|C,1|T,1|-,9)   total(A,1|C,1|-,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1382, None   



Context             (SEQ ID NO:11883):
CCACGCGCCGTCCTCCGAGGAACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATTATTAATAAAGTCTTTTCTTTTACCTGCCAA
Y
GCTTAGTTTCTTTGCCCAAAGGGAGTTTCGGCTGGACAGGTGCTAGCGTGGGGAGCTGCTGTAGGGTCCCAGAGACAGTTAGTTATTTGACCTAACAACG
Celera SNP ID:            hCV16232654
SNP Position Transcript:  1481
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1382, None   



Context             (SEQ ID NO:11884):
CTTTCGTTTAAGAAGCTATAACTTAAACCATCTTCAGAAACAAGATCTGTCACCCGTAGAGCTTAGAGTCCAAATAGACACCTATGAGGCGAGCACAAGG
R
GCGGTGTGAG
Celera SNP ID:            hCV27469526
SNP Position Transcript:  1897
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1382, None   



Context             (SEQ ID NO:11885):
TGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGAGCCAGTC
K
GCAGCGGTCACCCCGTCATCCACCACCTCTTCCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCA
Celera SNP ID:            hCV25629414
SNP Position Transcript:  794
SNP Source:               Applera
Population(Allele,Count): african american(G,31|T,1)   caucasian(G,40)   total(G,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 213, (S,TCG)   (S,TCT)   



Context             (SEQ ID NO:11886):
GAGGCTGTGGAGGCCGCCAACAAGGGCGATGTGGAAGCGTTTGCCAAAGCCATGCAGAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACA
M
GAAGGACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAGGAACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCAC
Celera SNP ID:            hCV25762443
SNP Position Transcript:  1345
SNP Source:               Applera
Population(Allele,Count): african american(A,36)   caucasian(A,35|C,1)   total(A,71|C,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1382, 397, (K,AAG)   (T,ACG)   



Context             (SEQ ID NO:11887):
GCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGCAGCTCATCGGACCAGCCGGCCT
Y
GGAGGACTGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGGA
Celera SNP ID:            hCV25629417
SNP Position Transcript:  686
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,40)   total(C,72|T,6)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 177, (L,CTC)   (L,CTT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 177, (L,CTC)   (L,CTT)      



Context             (SEQ ID NO:11888):
AGAACAACGCCAAGCCCGAGCAGAAAGAGGGCGACACGAAGGACAAGAAGGACGAAGAGGAGGACATGAGCCTGGACTGAGCCACGCGCCGTCCTCCGAG
S
AACTGGGCGCTTGCAGTGCGTTGCACACCCTCACCTCCCACCCACTGATTATTAATAAAGTCTTTTCTTTTACCTGCCAACGCTTAGTTTCTTTGCCCAA
Celera SNP ID:            hCV7549274
SNP Position Transcript:  1400
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    ;no_pop(C,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1382, None   



Context             (SEQ ID NO:11889):
AGCGGCTTTTCTTCTGGATGCAGGAACCCAAGACAGACCAGGATGAGGAGCATTGCCGGAAAGTCAACGAGTATCTGAACAACCCCCCGATGCCTGGGGC
R
CTGGGGGCCAGCGGAAGCAGCGGCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGC
Celera SNP ID:            hCV16232596
SNP Position Transcript:  563
SNP Source:               Applera
Population(Allele,Count): african american(A,19|G,11)   caucasian(A,33|G,1)   total(A,52|G,12)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 136, (A,GCA)   (A,GCG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,20|G,12)   caucasian(A,38|G,2)   total(A,58|G,14)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 136, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1382, 136, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11890):
CCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCGCCCAGTTCCGGGAATGGAGCCAGCACAGCAGCCAG
M
CCGACCCAGCCCATCCAGCTGAGCGACCTCCAGAGCATCCTGGCCACGATGAACGTACCAGCCGGGCCAGCAGGCGGCCAGCAAGTGGACCTGGCCAGTG
Celera SNP ID:            hCV7549283
SNP Position Transcript:  926
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1382, 257, (R,AGA)   (S,AGC)      



Context             (SEQ ID NO:11891):
AGCTGCTGTAGGGTCCCAGAGACAGTTAGTTATTTGACCTAACAACGGAAAACGGTCACCCCAGGAAGAGTTTGGTGCCTCTGTCCAGGCCGGTTCCAGA
Y
CTGTCTTGAGACTCTCTCCGTATTTAAGTCAACATTCATTCGGTTACACAGAAGTTACTTTTTAATTTTTAAGGAGGAACCAGTGATGATTGGTGACAAA
Celera SNP ID:            hCV1763935
SNP Position Transcript:  1635
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,9)      total(C,9|T,1) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1382, None   



Gene Number:                 264
Celera Gene:                 hCG41774 - 146000220192570
Celera Transcript:           hCT33047 - 146000220192678
Public Transcript Accession: NM_005560
Celera Protein:              hCP51602 - 197000069370395
Public Protein Accession:    NP_005551
Gene Symbol:                 LAMA5
Protein Name:                laminin, alpha 5;KIAA1907
Celera Genomic Axis:         GA_x5YUV32VYHA(1927964..1986475)
Chromosome:                  Chr20
OMIM number:                 601033
OMIM Information:            LAMININ, ALPHA-5;LAMA5


Transcript Sequence (SEQ ID NO:686):
ACCCGCCGGGCTCCCGCCGCGCGCGCTGTCCCTGGAGCTCGGGGACGCGGCCCGGAGCCGGGAAGATGGCGAAGCGGCTCTGCGCGGGGAGCGCACTGTG
TGTTCGCGGCCCCCGGGGCCCCGCGCCGCTGCTGCTGGTCGGGCTGGCGCTGCTGGGCGCGGCGCGGGCGCGGGAGGAGGCGGGCGGCGGCTTCAGCCTG
CACCCGCCCTACTTCAACCTGGCCGAGGGCGCCCGCATCGCCGCCTCCGCGACCTGCGGAGAGGAGGCCCCGGCGCGCGGCTCCCCGCGCCCCACCGAGG
ACCTTTACTGCAAGCTGGTAGGGGGCCCCGTGGCCGGCGGCGACCCCAACCAGACCATCCGGGGCCAGTACTGYGACATCTGCACGGCTGCCAACAGCAA
CAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAGYCCACCGCTGTCCCGCGGCCTGGAGTACAACGAGGTCAACGTCACC
CTGGACCTGGGCCAGGTCTTCCACGTGGCCTACGTCCTCATCAAGTTTGCCAACTCACCCCGGCCGGACCTCTGGGTGCTGGAGCGGTCCATGGACTTCG
GCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTCYAAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGC
RGCCATCTGCACCACCGAGTACTCACGCATCGGCCACACTGGCGTCACCGCATACTGCCCACAGATCGTGGTGTCCCTGGTGAACGGACGTCCGGGCGCC
ATGAATTTCTCCTACTCGCCGCTGCTACGTGAGTTCACCAAGGCCACCAACGTCCGCCTGCGCTTCCTGCGTACCAACACGCTGCTGGGCCATCTCATGG
GGAAGGCGCTGCGGGACCCCACGGTCACCCGCCGGTATTATTACAGCATCAAGGATATCAGCATCGGAGGCCGCTGTGTCTGCCACGGCCACGCGGATGC
CTGCGATGCCAAAGACCCCACGGACCCGTTCAGGCTGCAGTGCACCTGCCAGCACAACACCTGCGGGGGCACCTGCGACCGCTGCTGCCCCGGCTTCAAT
CAGCAGCCGTGGAAGCCTGCGACTGCCAACAGTGCCAACGAGTGCCAGTCCTGTAACTGCTACGGCCATGCCACCGACTGTTACTACGACCCTGAGGTGG
ACCGGCGCCGYGCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACCRCCGGCGTCAACTGTGAGCGCTG
CCTGCCCGGCTTCTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTCYGACTTCACGGATGGCACCTGCGAG
GACCTGACGGGTCGATGCTACTGCCGGCCCAACTTCTCTGGGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGGGCTTCCCAAGCTGCTACCCGACGC
CCTCGTCCTCCAATGACACCAGGGAGCAGGTGCTGCCAGCYGGCCAGATTGTGAATTGTGACTGCAGCGCGGCAGGGACCCAGGGCAACGCCTGCCGGAA
GGACCCAAGGGTGGGACGCTGTCTGTGCAAACCCAACTTCCAAGGCACCCATTGTGAGCTCTGCGCGCCAGGGTTCTACGGCCCCGGCTGCCAGCCCTGC
CAGTGTTCCAGCCCTGGAGTGGCCGATGACCGCTGTGACCCTGACACAGGCCAGTGCAGGTGCCGAGTGGGCTTCGAGGGGGCCACATGTGATCGCTGTG
YCCCCGGCTACTTTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCA
GCCTGAGTTTGCYGGACCTCATTGTGACCGGTGCCGCCCTGGCTACCATGGTTTCCCCAACTGCCAAGCATGCACCTGCGACCCTCGGGGAGCCCTGGAC
CAGCTCTGTGGGGCGGGAGGTTTGTGCCGCTGCCGCCCCGGCTACACAGGCACTGCCTGCCAGGAATGCAGCCCCGGCTTTCACGGCTTCCCCAGCTGTG
TCCCCTGCCACTGCTCTGCTGAAGGSTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGA
CAYRTGTGTGCCCGGTGCCTACAACTTCCCCTACTGCGAAGGTGACTCCTGTGAGTCACAGGCACAGGTTCCCTGTATGTGCCGGGCTCACGTGGAGGGG
CCGAGCTGTGACCGCTGCAAACCTGGGTTCTGGGGACTGAGCCCCAGCAACCCCGAGGGCTGTACCCGTGAGTGTGCCCTGGAGTATTGGGGCTGCAGCT
GCGACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCACYGGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTG
CAMGGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCAGCTGCCGGTGTGACATTGGCGGTGCACTGGGCCAGAGCTGTGAACCGAGG
ACGGGCGTCTGCCGGTGCCGCCCCAACACCCAGGGCCCCACCTGCAGCGAGCCTGCGAGGGACCACTACCTCCCGGACCTGCACCACCTGCGCCTGGAGC
TGGAGGAGGCTGCCACACCTGAGGGTCACGCCRTGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTACRCGCAGATGGCACC
TGTCCAGCCCAGGATCGTGGCCAGGCTGAACCTGACCTCCCCCGACCTTTTCTGGCTCGTCTTCCGATACGTCAACCGGGGGGCCATGAGTGTGAGCGGG
CGGGTCTCTGTGCGAGAGGAGGGCAGGTCGGCCGCCTGTGCCAACTGCACAGCACAGAGTCAGCCCGTGGCCTTCCCACCCAGCACGGAGCCTGCCTTCA
TCACCGTGCCCCAGAGGGGCTTCGGAGAGCCCTTTGTGCTGAACCCTGGCACCTGGGCCCTGCGTGTGGAGGCCGAAGGGGTGCTCCTGGACTACGTGGT
TCTGCTGCCTAGCGCATACTACGAGGCGGCGCTCCTGCAGCTGCGGGTGACTGAGGCCTGCACATACCGTCCCTCTGCCCAGCAGTCTGGCGACAACTGC
CTCCTCTACACACACCTCCCCCTGGATGGCTTCCCCTCGGCCGCCGGGCTGGAGGCCCTGTGTCGCCAGGACAACAGCCTGCCCCGGCCCTGCCCCACGG
AGCAGCTCAGCCCGTCGCACCCGCCACTGATCACCTGCACGGGCAGTGATGTGGACGTCCAGCTTCAAGTGGCAGTGCCACAGCCAGGCCGCTATGCCCT
AGTGGTGGAGTACGCCAATGAGGATGCCCGCCAGGAGGTGGGCGTGGCTGTGCACACCCCACAGCGGGCCCCCCAGCAGGGGCTGCTCTCCCTGCACCCC
TGCCTGTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCG
ARCAGKCACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGG
CGCCTTTGGCCCCAACAGTGCCGCCTGTCTGCCCTCGCGCTTCCCAAAGCCGCCCCAGCCCATCATCCTCAGGGACTGCCAGGTGATCCCGCTGCCGCCC
GGCCTCCCGCTGACCCACGCGCAGGATCTCACTCCAGCCAYGTCCCCAGCTGGACCCCGACCTCGGCCCCCCACCGCTGTGGACCCTGATGCAGAGCCCA
CCCTGCTGCGTGAGCCCCAGGCCACCGTGGTCTTCACCACCCATGTGCCCACGCTGGGCCGCTATGCCTTCCTGCTGCACGGCTACCAGCCAGCCCACCC
CACCTTCCCCGTGGAAGTCCTCATCAACGCCGGCCGCGTGTGGCAGGGCCACGCCAACGCCAGCTTCTGTCCACATGGCTACGGCTGCCGCACCCTGGTG
GTGTGTGAGGGCCAGGCCCTGCTGGACGTGACCCACAGCGAGCTCACTGTGACCGTGCGTGTGCCCRAGGGCCGGTGGCTCTGGCTGGATTATGTACTCG
TGGTCCCTGAGAACGTCTACAGCTTTGGCTACCTCCGGGAGGAGCCCCTGGATAAATCCTATGACTTCATCAGCCACTGCGCAGCCCAGGGCTACCACAT
CAGCCCCAGCAGCTCATCCCTGTTCTGCCGAAACGCTGCTGCTTCCCTCTCCCTCTTCTATAACAACGGAGCCCGTCCATGTGGCTGCCACGAAGTAGGT
GCTACAGGCCCCACGTGTGAGCCCTTCGGGGGCCAGTGTCCCTGCCATGCCCATGTCATTGGCCGTGACTGCTCCCGCTGTGCCACCGGATACTGGGGCT
TCCCCAACTGCAGGCCCTGTGACTGCGGTGCCCGCCTCTGTGACGAGCTCACGGGCCAGTGCATCTGCCCGCCACGCACCATCCCGCCCGACTGCCTRCT
GTGCCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCCYGGCATCCAGGAGCTCACAGACCCTACCTGTGAC
ACAGACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCCRCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTG
ACTGTCACGAGGCGGGCACTGYGCYTGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAG
CCTTGGGACCTTCTCACTGGATGCTGCCAACCCCAAAGGTTGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGC
CAGGAGTTCGTGGAYATGGAGGGATGGGTGCTGCTGAGCAYTGACCGGCAGGTGGTGCCCCACGAGYGGCAGCCAGGGAYGGAGATGCTCCGTGCAGACC
TGYGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTRTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGAC
CCTCCGTTATGAACTGYACTCAGAGACCCAGCGGGGAGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATC
ACATTCCTGGAGCCGGCATACCCCACGCCTGGCCACRTTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGACKCGCAACACTG
TGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCTYCCTGCGCAGGGT
GGCACTGGAGGTGGCCAGCCCAGCAGGCCAGGGGGCCCTGGCCAGCAATGTGGAGCTGTGCCTGTGCCCCGCCAGCTACCGGGGGGACTCATGCCAGGAA
TGTGCCCCCGGCTTCTATCGGGACGTCAAAGGTCTCTTCCTGGGCCGATGTGTCCCTTGTCAGTGCCATGGACACTCAGACCGCTGCCTCCCTGGCTCTG
GCGTCTGTGTGGACTGCCAGCACAACACCGAAGGGGCCCACTGTGAGCGCTGCCAGGCTGGCTTCRTGAGCAGCAGGGACGACCCCAGCACCCCCTGTGT
CAGCTGCCCCTGCCCCCTCTCAGTGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGGCCGCACCCAGTGCCTCTGCAAACCTGGTTATGCA
GGTGCCTCCTGCGAGCGGTGTGCRCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGYGACTGCAGYGGCAAYGGTGACCCCA
ACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCTGTGCCCCCGGCTTCTA
CGGCAACGCCCTGCTGCCCGGCAACTGCACCCGTAGGCRTCGGGCTGGGAGGGATGCACCCTGGGGAGGGTTGCGCGGGGAGGAGGGAGGCCTGCTGGGC
GTACCCRGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCCRCAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACC
RCTGCCAGGAGGGACATTTTGGTTTYRATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCYGAGGGCTCCGAGTGCCACCCCCAGAGCGG
ACAGTGCCACTGCCGACCAGGGACCATGGGACCCCAGTGCCGCGAGTGTGCCCCTGGCTACTGGGGGCTCCCTGAGCAGGGCTGCAGGCGCTGCCAGTGC
CCTGGGGGCCGCTGTGACCCTCACACGGGCCGCTGCAACTGCCCCCCGGGGCTCAGCGGGGAGCGCTGCGACACCTGCAGCCAGCAGCATCAGGTGCCTG
TTCCAGGCGGGCCTGTGGGCCACAGCATCCACTGTGAAGTGTGTGACCACTGTGTGGTCCTGCTCCTGGATGACCTGGAACGGGCCGGCGCCCTCCTCCC
CGCCATTCACGAGCAACTGCGTGGCATCAATGCCAGCTCCATGGCCTGGGCCCGTCTGCACAGGCTGAACGCCTCCATCGCTGACCTGCAGGTACTGAGC
GTCCTGGCCTTCCCTCCCCAACCCGGGCCAGTGCAGGCCTTCACCTTYCGCCTCCCACAGAGCCAGCTCCGGAGCCCCCTGGGCCCCCRCCATGAGACGG
CACAGCAGCTGGAGGCYGTGGGGACCCGAGACCAGGCGAGCCAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGTTGGCGGCCAT
CCGGGCTGTGGACCGCACCCTGAGCGAGCTCATGTCCCAGAYGGGCCACCTGGGGCTGGCCAATGCCTCGGCTCCATCAGGTGAGCAGCTGCTCCGGACA
CTGGCCGAGGTGGAGCGGCTGCTCTGGGAGATGCGGGCCCGGGACCTGGGGGCCCCGCAGGCAGCAGCTGAGGCTGAGTTGGCTGCAGCACAGAGATTGC
TGGCCCGGGTGCAGGAGCAGCTGAGCAGCCTCTGGGAGGAGAACCAGGCACTGGCCACACAAACCCGCGACCGGCTGGCCCAGCACGAGGCCGGCCTCAT
GGACCTGCGAGAGGCTTTGAACCGGGCAGTGGACGCCACACGGGAGGCCCAGGAGCTCAACAGCCGCAACCAGGAGCGCCTGGAGGAAGCCCTGCAAAGG
AAGCAGGAGCTGTCCCGGGACAATGCCACCCTGCAGGCCACTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCACAGCCTGGACC
AGGCTAAGGAGGAGCTGGAGCRCCTCGCCGCCAGCCTGGAYGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCT
GCGTCTAGTGGAGGCCRCCGAGGCCCACGCACAGCAGCTGGGCCAGCTGGCACTCAATCTGTCCAGCATCATCCTGGACGTCAACCAGGACCGCCTCACC
CAGAGGGCCATCGAGGCCTCCAACGCCTACAGCCGCATCCTGCAGGCCGTGCAGGCTGCCGAGGATGCTGCTGGCCAGGCCCTGCAGCAGGCGGACCACA
CGTGGGCGACGGTGGTGCGGCAGGGCCTGGTGGACCGAGCCCAGCAGCTCCTGGCCAACAGCACTGCACTAGAAGAGGCCATGCTCCAGGAACAGCAGAG
GCTGGGCCTTGTGTGGGCTGCCCTCCAGGGTGCCAGGACCCAGCTCCGAGATGTCCGGGCCAAGAAGGACCAGCTGGAGGCGCACATCCAGGCGGCGCAG
GCCATGCTTGCCATGGACACAGACGAGACAAGCAAGAAGATCGCACATGCCAAGGCTGTGGCTGCTGAAGCCCAGGACACCGCCACCCGTGTGCAGTCCC
AGCTGCAGGCCATGCAGGAGAATGTGGAGCGGTGGCAGGGCCAGTACGAGGGCCTGCGGGGCCAGGACCTGGGCCAGGCAGTGCTTGACGCAGGCCACTC
AGTGTCCACCCTGGAGAAGACGCTGCCCCAGCTGCTGGCCAAGCTGAGCATCCTGGAGAACCGTGGGGTGCACAACGCCAGCCTGGCCCTGTCCGCCAGC
ATTGGCCGCGTGCGAGAGCTCATTGCCCAGGCCCGGGGGGCTGCCAGTAAGGTCAAGGTGCCCATGAAGTTCAACGGGCGCTCAGGGGTGCAGCTGCGCA
CCCCACGGGATCTTGCCGACCTTGCTGCCTACACTGCCCTCAAGTTCTACCTGCAGGGCCCAGAGCCTGAGCCTGGGCAGGGTACCGAGGATCGCTTTGT
GATGTACATGGGCAGCCGCCAGGCCACTGGGGACTACATGGGTGTGTCTCTGCGTGACAAGAAGGTGCACTGGGTGTATCAGCTGGGTGAGGCGGGCCCT
GCAGTCCTAAGCATCGATGAGGACATTGGGGAGCAGTTCGCAGCTGTCAGCCTGGACAGGACTCTCCAGTTTGGCCACATGTCCGTCACAGTGGAGAGAC
AGATGATCCAGGAAACCAAGGGTGACACGGTGGCCCCTGGGGCAGAGGGGCTGCTCAACCTGCGGCCAGACGACTTCGTCTTCTACGTCGGGGGGTACCC
CAGTACCTTCACGCCCCCTCCCCTGCTTCGCTTCCCCGGCTACCGGGGCTGCATCGAGATGGACACGCTGAATGAGGAGGTGGTCAGCCTCTACAACTTC
GAGAGGACCTTCCAGCTGGACACGGCTGTGGACAGGCCTTGTGCCCGCTCCAAGTCGACCGGGGACCCGTGGCTCACGGACGGCTCCTACCTGGACGGCA
CCGGCTTCGCCCGCATCAGCTTCGACAGTCAGATCAGCACCACCAAGCGCTTCGAGCAGGAGCTGCGGCTCGTGTCCTACAGCGGGGTGCTCTTCTTCCT
GAAGCAGCAGAGCCAGTTCCTGTGYTTGGCCGTGCAAGAAGGCAGCCTCGTGCTGTTGTATGACTTTGGGGCTGGCCTGAAAAAGGCCGTCCCACTGCAG
CCCCCACCGCCCCTGACCTCGGCCAGCAAGGCGATCCAGGTGTTCCTGCTGGGGGGCAGCCGCAAGCGTGTGCTGGTGCGTGTGGAGCGGGCCACGGTGT
ACAGCGTGGAGCAGGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGAYGGCTCTTCCC
CACCGGAGGCTCASTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAGCGCCGGCTGC
ACYGCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGCAACGTCTACT
CYGGCTTCGGCTTCCACAGCGCCCAGGACAGTGCCCTGCTCTACTACCGGGCGTCCCCGGATGGGCTATGCCAGGTGTCCCTGCAGCAGGGCCGTGTGAG
CCTACAGCTCCTGAGGACTGAAGTGAAAACTCAAGCGGGCTTCGCCGATGGTGCCCCCCATTACGTCGCCTTCTACAGYAATGCCACGGGAGTCTGGCTG
TATGTCGATGACCAGCTCCAGCAGATGAAGCCCCACCGGGGACCACCCCCCGAGCTCCAGCCGCAGCCTGAGGGGCCCCCGAGGCTCCTCCTGGGAGGCC
TGCCTGAGTCTGGCACCATTTACAACTTCAGTGGCTGCATCAGCAACGTCTTCGTGCAGCGGCTCCTGGGCCCACAGCGCGTATTTGATCTGCAGCAGAA
CCTGGGCAGCGTCAATGTGAGCACGGGCTGTGCACCCGCCCTGCAAGCCCAGACCCCGGGCCTGGGGCCTAGAGGACTGCAGGCCACCGCCCRGAAGGCC
TCCCGCCGCAGCCGTCAGCCCGCCCGGCATCCTGCCTGCATGCTGCCCCCACACCTSAGGACCACCCGAGACTCCTACCAGTTTGGGGGTTCCCTGTCCA
GTCACCTGGAGTTTGTGGGCATCCTGGCCCGACATAGGAACTGGCCCAGTCTCTCCATGCACGTCCTCCCGCGAAGCTCCCGAGGCCTCCTCCTCTTCAC
TGCCCGTCTGAGGCCCGGCAGCCCCTCCCTGGCGCTCTTCCTGAGCAATGGCCACTTCGTTGCACAGATGGAAGGCCTCGGGACTCGGCTCCGCGCCCAG
AGCCGCCAGCGCTCCCGGCCTGGCCGCTGGCACAAGGTCTCCGTGCGCTGGGAGAAGAACCGGATCCTGCTGGTGACGGACGGGGCCCGGGCCTGGAGCC
AGGAGGGGCCGCACCGGCAGCACCAGGGGGCAGAGCACCCCCAGCCCCACACCCTCTTTGTGGGCGGCCTCCCGGCCAGCAGCCACAGCTCCAAACTTCC
GCTGCCCTGGGCCCTGATCCCTGCCCGGTCTGCTCCTATAGGTGACCGTCGGGTTCAGCGGCTGTGTGAAGAGACTGAGGCTGCACGGGAGGCCCCTGGG
GGCCCCCACACGGATGGCAGGGACCTCCCAGGAGCTACACTGCCTGATGTGGGCCTGGAACTGGAGGTGCGGCCCCTGGCAGTCACCGGACTGATCTTCC
ACTTGGGCCAGGCCCGGACGCCCCCCTACTTGCAGTTGCAGGTGACCGAGAAGCAAGTCCTGCTGCGGGCGGATGACGGAGCAGGGGAGTTCTCCACGTC
AGTGACCCGCCCCTCAGTGCTGTGTGATGGCCAGTGGCACCGGCTAGCGGTGATGAAAAGCGGGAATGTGCTCCGGCTGGAGGTGGACGCGCAGAGCAAC
CACACCGTGGGCCCCTTGCTGGCGGCTGCAGCTGGTGCCCCAGCCCCTCTGTACCTCGGGGGCCTGCCTGAGCCCATGGCCGTGCAGCCCTGGCCCCCCG
CCTACTGCGGCTGCATGAGGAGGCTGGCGGTGAACCGGTCCCCCGTCGCCATGACTCGCTCTGTGGAGGTCCACGGGGCAGTGGGGGCCAGTGGCTGCCC
AGCCGCCTAGGACACAGCCAACCCCGGCCCCTGGTCAGGCCCCTGCAGCTGCCTCACACCGCYCCTTGTGCTCGCCTCATAGGTGTCTATTTGGACTCTA
AGCTCTACGGGTGACAGATCTTGTTTCTGAAGATGGTTTAAGTTATAGCTTCTTAAACGAAAGAATAAAATACTGCAAAATGTTTTTATATTTGGCCCTT
CCACCCATTTTTAATTGTGAGAGATTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACTTCTGTGTAACCGAATGAATGTTGACTTA
AATACGGAGADAGTCTCAAGACAGRTCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACCGTTTTCCGTTGTTAGGTCAAATAACTAA
CTGTCTCTGGGACCCTACAGCAGCTCCCCACGCTAGCACCTGTCCAGCCGAAACTCCCTTTGGGCAAAGAAACTAAGCRTTGGC

Protein Sequence    (SEQ ID NO:1383):
MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRG
QYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFG
PQTLERITRDDAAICTTEYSRIGHTGVTAYCPQIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISI
GGRCVCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDC
QHHTAGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIVNCDC
SAAGTQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQPCQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLP
EGCDEAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTACQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQC
SCRPRVTGLRCDTCVPGAYNFPYCEGDSCESQAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRECALEYWGCSCDLRGTLGGVAECQPGTGQCFC
KPHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQSCEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFE
NFSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSAACANCTAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALR
VEAEGVLLDYVVLLPSAYYEAALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQLSPSHPPLITCTGSDVDVQL
QVAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLLSLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEF
VEPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPATSPAGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRY
AFLLHGYQPAHPTFPVEVLINAGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPEGRWLWLDYVLVVPENVYSFGYLREEPLDKSYD
FISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGCHEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCI
CPPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRRCDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCK
ENVQGPKCDQCSLGTFSLDAANPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRHVPEAVPEAFPELYWQAPPS
YLGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGNQMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALF
SQISSAVSLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGRCVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGF
VSSRDDPSTPCVSCPCPLSVPSNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLLFSDCDPLTGACRGCLRHTT
GPRCEICAPGFYGNALLPGNCTRRRRAGRDAPWGGLRGEEGGLLGVPRCDCTPCGTEACDPHSGHCLCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGP
AAEGSECHPQSGQCHCRPGTMGPQCRECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGHSIHCEVCDHCVVLL
LDDLERAGALLPAIHEQLRGINASSMAWARLHRLNASIADLQVLSVLAFPPQPGPVQAFTFRLPQSQLRSPLGPHHETAQQLEAVGTRDQASQLLAGTEA
TLGHAKTLLAAIRAVDRTLSELMSQTGHLGLANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEAELAAAQRLLARVQEQLSSLWEENQALATQT
RDRLAQHEAGLMDLREALNRAVDATREAQELNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAASLDGARTPLLQ
RMQTFSPAGSKLRLVEAAEAHAQQLGQLALNLSSIILDVNQDRLTQRAIEASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANST
ALEEAMLQEQQRLGLVWAALQGARTQLRDVRAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQDTATRVQSQLQAMQENVERWQGQYEGLRGQ
DLGQAVLDAGHSVSTLEKTLPQLLAKLSILENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYTALKFYLQGPE
PEPGQGTEDRFVMYMGSRQATGDYMGVSLRDKKVHWVYQLGEAGPAVLSIDEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLR
PDDFVFYVGGYPSTFTPPPLLRFPGYRGCIEMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWLTDGSYLDGTGFARISFDSQISTTKRFEQEL
RLVSYSGVLFFLKQQSQFLCLAVQEGSLVLLYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELADAYYLGGVPP
DQLPPSLRRLFPTGGSVRGCVKGIKALGKYVDLKRLNTTGVSAGCTADLLVGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDG
LCQVSLQQGRVSLQLLRTEVKTQAGFADGAPHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEGPPRLLLGGLPESGTIYNFSGCISNVFVQRL
LGPQRVFDLQQNLGSVNVSTGCAPALQAQTPGLGPRGLQATARKASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARHRNWPSLSMHV
LPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQMEGLGTRLRAQSRQRSRPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVG
GLPASSHSSKLPLPWALIPARSAPIGDRRVQRLCEETEAAREAPGGPHTDGRDLPGATLPDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLL
RADDGAGEFSTSVTRPSVLCDGQWHRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPAYCGCMRRLAVNRSPVAMTRSV
EVHGAVGASGCPAA


SNP Information

Context             (SEQ ID NO:11892):
GGGCCCCACCTGCAGCGAGCCTGCGAGGGACCACTACCTCCCGGACCTGCACCACCTGCGCCTGGAGCTGGAGGAGGCTGCCACACCTGAGGGTCACGCC
R
TGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTACGCGCAGATGGCACCTGTCCAGCCCAGGATCGTGGCCAGGCTGAACCT
Celera SNP ID:            hCV27847079
SNP Position Transcript:  2733
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,15)   caucasian(A,2|G,36)   total(A,5|G,51)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 890, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,20)   caucasian(G,22)   total(A,6|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 890, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11893):
GGAGCGCCTCGCCGCCAGCCTGGACGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCC
R
CCGAGGCCCACGCACAGCAGCTGGGCCAGCTGGCACTCAATCTGTCCAGCATCATCCTGGACGTCAACCAGGACCGCCTCACCCAGAGGGCCATCGAGGC
Celera SNP ID:            hCV25762364
SNP Position Transcript:  7617
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2518, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:11894):
TGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCTGTGCCCCCGGCTTCTACGGCAACGCCCTGCTGCCCGGCAACTGCACCCGTAGGC
R
TCGGGCTGGGAGGGATGCACCCTGGGGAGGGTTGCGCGGGGAGGAGGGAGGCCTGCTGGGCGTACCCCGGTGCGACTGTACCCCATGTGGGACAGAGGCC
Celera SNP ID:            hCV22273683
SNP Position Transcript:  6139
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,21)   caucasian(A,25|G,15)   total(A,40|G,36)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2025, (H,CAT)   (R,CGT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2025, (H,CAT)   (R,CGT)      



Context             (SEQ ID NO:11895):
CGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGA
Y
GGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGG
Celera SNP ID:            hCV8236094
SNP Position Transcript:  5080
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1672, (T,ACG)   (M,ATG)      1672, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:11896):
GGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGGGCTTCCCAAGCTGCTACCCGACGCCCTCGTCCTCCAATGACACCAGGGAGCAGGTGCTGCCAGC
Y
GGCCAGATTGTGAATTGTGACTGCAGCGCGGCAGGGACCCAGGGCAACGCCTGCCGGAAGGACCCAAGGGTGGGACGCTGTCTGTGCAAACCCAACTTCC
Celera SNP ID:            hCV25629445
SNP Position Transcript:  1541
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,10)   caucasian(C,15|T,21)   total(C,41|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 492, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,5)   total(C,5|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 492, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11897):
CAGTGTTCCAGCCCTGGAGTGGCCGATGACCGCTGTGACCCTGACACAGGCCAGTGCAGGTGCCGAGTGGGCTTCGAGGGGGCCACATGTGATCGCTGTG
Y
CCCCGGCTACTTTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCAG
Celera SNP ID:            hCV25629446
SNP Position Transcript:  1801
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 579, (A,GCC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 579, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:11898):
GCCGCTGCCGCCCCGGCTACACAGGCACTGCCTGCCAGGAATGCAGCCCCGGCTTTCACGGCTTCCCCAGCTGTGTCCCCTGCCACTGCTCTGCTGAAGG
S
TCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACACGTGTGTGCCCGGTGCCTACAACT
Celera SNP ID:            hCV25629447
SNP Position Transcript:  2126
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 687, (G,GGC)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 687, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:11899):
CTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAGCGGCAA
Y
GGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCTGTGCCC
Celera SNP ID:            hCV25629480
SNP Position Transcript:  5990
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,39|T,1)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1975, (N,AAC)   (N,AAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1975, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11900):
TGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCA
Y
TGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAG
Celera SNP ID:            hCV22275574
SNP Position Transcript:  5041
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,7)   caucasian(C,7|T,11)   total(C,14|T,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1659, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:11901):
CCTGCCACTGCTCTGCTGAAGGCTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACAC
R
TGTGTGCCCGGTGCCTACAACTTCCCCTACTGCGAAGGTGACTCCTGTGAGTCACAGGCACAGGTTCCCTGTATGTGCCGGGCTCACGTGGAGGGGCCGA
Celera SNP ID:            hCV25629449
SNP Position Transcript:  2204
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,3|G,35)   total(A,18|G,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 713, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,3|G,31)   total(A,16|G,42)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 713, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 713, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11902):
GCCTGTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCGA
R
CAGGCACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGGCG
Celera SNP ID:            hCV1763964
SNP Position Transcript:  3602
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,2|G,24)   total(A,8|G,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1179, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1179, (E,GAA)   (E,GAG)      1179, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:11903):
CAGGTACTGAGCGTCCTGGCCTTCCCTCCCCAACCCGGGCCAGTGCAGGCCTTCACCTTCCGCCTCCCACAGAGCCAGCTCCGGAGCCCCCTGGGCCCCC
R
CCATGAGACGGCACAGCAGCTGGAGGCCGTGGGGACCCGAGACCAGGCGAGCCAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTG
Celera SNP ID:            hCV25762906
SNP Position Transcript:  6889
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,27)   caucasian(A,11|G,23)   total(A,20|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2275, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,10)   caucasian(G,4)   total(A,4|G,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2275, (H,CAC)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2275, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11904):
CCCAACCCGGGCCAGTGCAGGCCTTCACCTTCCGCCTCCCACAGAGCCAGCTCCGGAGCCCCCTGGGCCCCCACCATGAGACGGCACAGCAGCTGGAGGC
Y
GTGGGGACCCGAGACCAGGCGAGCCAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGTTGGCGGCCATCCGGGCTGTGGACCGCA
Celera SNP ID:            hCV25629483
SNP Position Transcript:  6917
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,17|T,1)   total(C,43|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2284, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:11905):
CAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGTTGGCGGCCATCCGGGCTGTGGACCGCACCCTGAGCGAGCTCATGTCCCAGA
Y
GGGCCACCTGGGGCTGGCCAATGCCTCGGCTCCATCAGGTGAGCAGCTGCTCCGGACACTGGCCGAGGTGGAGCGGCTGCTCTGGGAGATGCGGGCCCGG
Celera SNP ID:            hCV25629484
SNP Position Transcript:  7042
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,36)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2326, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11906):
ACAGTCAGATCAGCACCACCAAGCGCTTCGAGCAGGAGCTGCGGCTCGTGTCCTACAGCGGGGTGCTCTTCTTCCTGAAGCAGCAGAGCCAGTTCCTGTG
Y
TTGGCCGTGCAAGAAGGCAGCCTCGTGCTGTTGTATGACTTTGGGGCTGGCCTGAAAAAGGCCGTCCCACTGCAGCCCCCACCGCCCCTGACCTCGGCCA
Celera SNP ID:            hCV25629489
SNP Position Transcript:  9125
SNP Source:               Applera
Population(Allele,Count): african american(C,24)   caucasian(C,23|T,1)   total(C,47|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 3020, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11907):
GGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGACGGCTCTTCCCCACCGGAGGCTCA
S
TCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAGCGCCGGCTGCACCGCCGACCTGCT
Celera SNP ID:            hCV29371004
SNP Position Transcript:  9414
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 3117, (L,CTC)   (V,GTC)      



Context             (SEQ ID NO:11908):
CCCTGCCACTGCTCTGCTGAAGGCTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACA
Y
GTGTGTGCCCGGTGCCTACAACTTCCCCTACTGCGAAGGTGACTCCTGTGAGTCACAGGCACAGGTTCCCTGTATGTGCCGGGCTCACGTGGAGGGGCCG
Celera SNP ID:            hCV25761428
SNP Position Transcript:  2203
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,35|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 713, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11909):
CCGCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGCAACGTCTACTC
Y
GGCTTCGGCTTCCACAGCGCCCAGGACAGTGCCCTGCTCTACTACCGGGCGTCCCCGGATGGGCTATGCCAGGTGTCCCTGCAGCAGGGCCGTGTGAGCC
Celera SNP ID:            hCV25761714
SNP Position Transcript:  9602
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 3179, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:11910):
ACCCCGAGGGCTGTACCCGTGAGTGTGCCCTGGAGTATTGGGGCTGCAGCTGCGACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCAC
Y
GGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTGCAAGGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCA
Celera SNP ID:            hCV25629450
SNP Position Transcript:  2450
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 795, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:11911):
GACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCACCGGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTGCA
M
GGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCAGCTGCCGGTGTGACATTGGCGGTGCACTGGGCCAGAGCTGTGAACCGAGGACG
Celera SNP ID:            hCV25629451
SNP Position Transcript:  2503
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,38|C,2)   total(A,76|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 813, (K,AAG)   (T,ACG)   



Context             (SEQ ID NO:11912):
TTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACTTCTGTGTAACCGAATGAATGTTGACTTAAATACGGAGAGAGTCTCAAGACAG
R
TCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACCGTTTTCCGTTGTTAGGTCAAATAACTAACTGTCTCTGGGACCCTACAGCAGCT
Celera SNP ID:            hCV1763935
SNP Position Transcript:  11525
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1383, None   



Context             (SEQ ID NO:11913):
GTACCCCGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACC
R
CTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGA
Celera SNP ID:            hCV27471296
SNP Position Transcript:  6301
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2079, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11914):
GTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCGAGCAG
K
CACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGGCGCCTT
Celera SNP ID:            hCV25629457
SNP Position Transcript:  3606
SNP Source:               Applera
Population(Allele,Count): african american(G,11|T,1)   caucasian(G,28)   total(G,39|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1181, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:11915):
CCATCCGGGGCCAGTACTGTGACATCTGCACGGCTGCCAACAGCAACAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAG
Y
CCACCGCTGTCCCGCGGCCTGGAGTACAACGAGGTCAACGTCACCCTGGACCTGGGCCAGGTCTTCCACGTGGCCTACGTCCTCATCAAGTTTGCCAACT
Celera SNP ID:            hCV25629459
SNP Position Transcript:  455
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(T,40)   total(C,3|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 130, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11916):
GGCCACGGTGTACAGCGTGGAGCAGGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGA
Y
GGCTCTTCCCCACCGGAGGCTCAGTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAG
Celera SNP ID:            hCV25629492
SNP Position Transcript:  9390
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,16)   caucasian(C,14|T,16)   total(C,30|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 3109, (R,CGG)   (W,TGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 3109, (R,CGG)   (W,TGG)      3109, (W,TGG)   (R,CGG)      



Context             (SEQ ID NO:11917):
CCGGAGGCTCAGTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAGCGCCGGCTGCAC
Y
GCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGCAACGTCTACTCCG
Celera SNP ID:            hCV25629493
SNP Position Transcript:  9503
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,38|T,2)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 3146, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:11918):
CGGGCCTGGGGCCTAGAGGACTGCAGGCCACCGCCCGGAAGGCCTCCCGCCGCAGCCGTCAGCCCGCCCGGCATCCTGCCTGCATGCTGCCCCCACACCT
S
AGGACCACCCGAGACTCCTACCAGTTTGGGGGTTCCCTGTCCAGTCACCTGGAGTTTGTGGGCATCCTGGCCCGACATAGGAACTGGCCCAGTCTCTCCA
Celera SNP ID:            hCV25629496
SNP Position Transcript:  10157
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,16)   total(C,50|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 3364, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:11919):
CAGCAGAACCTGGGCAGCGTCAATGTGAGCACGGGCTGTGCACCCGCCCTGCAAGCCCAGACCCCGGGCCTGGGGCCTAGAGGACTGCAGGCCACCGCCC
R
GAAGGCCTCCCGCCGCAGCCGTCAGCCCGCCCGGCATCCTGCCTGCATGCTGCCCCCACACCTCAGGACCACCCGAGACTCCTACCAGTTTGGGGGTTCC
Celera SNP ID:            hCV25629497
SNP Position Transcript:  10093
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,16)   total(A,2|G,48)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 3343, (Q,CAG)   (R,CGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,32)   caucasian(G,30)   total(A,2|G,62)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 3343, (Q,CAG)   (R,CGG)   



Context             (SEQ ID NO:11920):
GGGCCCGTCTGCACAGGCTGAACGCCTCCATCGCTGACCTGCAGGTACTGAGCGTCCTGGCCTTCCCTCCCCAACCCGGGCCAGTGCAGGCCTTCACCTT
Y
CGCCTCCCACAGAGCCAGCTCCGGAGCCCCCTGGGCCCCCACCATGAGACGGCACAGCAGCTGGAGGCCGTGGGGACCCGAGACCAGGCGAGCCAATTGC
Celera SNP ID:            hCV27845091
SNP Position Transcript:  6848
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,8)   caucasian(C,36)   total(C,62|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2261, (F,TTC)   (F,TTT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,13|T,5)   caucasian(C,12)   total(C,25|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2261, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:11921):
GCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTCCAAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGC
R
GCCATCTGCACCACCGAGTACTCACGCATCGGCCACACTGGCGTCACCGCATACTGCCCACAGATCGTGGTGTCCCTGGTGAACGGACGTCCGGGCGCCA
Celera SNP ID:            hCV9572589
SNP Position Transcript:  701
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 212, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:11922):
CACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAG
Y
GGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTA
Celera SNP ID:            hCV27164169
SNP Position Transcript:  5067
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3)   total(C,3|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1668, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:11923):
CCATGGACACTCAGACCGCTGCCTCCCTGGCTCTGGCGTCTGTGTGGACTGCCAGCACAACACCGAAGGGGCCCACTGTGAGCGCTGCCAGGCTGGCTTC
R
TGAGCAGCAGGGACGACCCCAGCACCCCCTGTGTCAGCTGCCCCTGCCCCCTCTCAGTGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGG
Celera SNP ID:            hCV16232608
SNP Position Transcript:  5766
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1901, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:11924):
AATGCCACCCTGCAGGCCACTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCACAGCCTGGACCAGGCTAAGGAGGAGCTGGAGC
R
CCTCGCCGCCAGCCTGGACGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCCGCCGAG
Celera SNP ID:            hCV16232643
SNP Position Transcript:  7522
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2486, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11925):
CTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCACAGCCTGGACCAGGCTAAGGAGGAGCTGGAGCGCCTCGCCGCCAGCCTGGA
Y
GGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCCGCCGAGGCCCACGCACAGCAGCTGG
Celera SNP ID:            hCV16232644
SNP Position Transcript:  7541
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2492, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:11926):
GTGGAGGTCCACGGGGCAGTGGGGGCCAGTGGCTGCCCAGCCGCCTAGGACACAGCCAACCCCGGCCCCTGGTCAGGCCCCTGCAGCTGCCTCACACCGC
Y
CCTTGTGCTCGCCTCATAGGTGTCTATTTGGACTCTAAGCTCTACGGGTGACAGATCTTGTTTCTGAAGATGGTTTAAGTTATAGCTTCTTAAACGAAAG
Celera SNP ID:            hCV27469526
SNP Position Transcript:  11263
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1383, None   



Context             (SEQ ID NO:11927):
TTCCCAAAGCCGCCCCAGCCCATCATCCTCAGGGACTGCCAGGTGATCCCGCTGCCGCCCGGCCTCCCGCTGACCCACGCGCAGGATCTCACTCCAGCCA
Y
GTCCCCAGCTGGACCCCGACCTCGGCCCCCCACCGCTGTGGACCCTGATGCAGAGCCCACCCTGCTGCGTGAGCCCCAGGCCACCGTGGTCTTCACCACC
Celera SNP ID:            hCV25629462
SNP Position Transcript:  3841
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,10)   caucasian(C,33|T,3)   total(C,51|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1259, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,64|C,1437)   total(C,1437|T,64) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1259, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:11928):
GTGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTT
Y
GATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCA
Celera SNP ID:            hCV1763946
SNP Position Transcript:  6326
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,2)      total(C,2|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2087, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:11929):
CTGTCCACATGGCTACGGCTGCCGCACCCTGGTGGTGTGTGAGGGCCAGGCCCTGCTGGACGTGACCCACAGCGAGCTCACTGTGACCGTGCGTGTGCCC
R
AGGGCCGGTGGCTCTGGCTGGATTATGTACTCGTGGTCCCTGAGAACGTCTACAGCTTTGGCTACCTCCGGGAGGAGCCCCTGGATAAATCCTATGACTT
Celera SNP ID:            hCV25629465
SNP Position Transcript:  4167
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,27)   caucasian(G,32)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1368, (K,AAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,17)   caucasian(G,32)   total(A,3|G,49)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1368, (K,AAG)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1368, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:11930):
GCCCGCCACGCACCATCCCGCCCGACTGCCTACTGTGCCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCC
Y
GGCATCCAGGAGCTCACAGACCCTACCTGTGACACAGACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGG
Celera SNP ID:            hCV25629466
SNP Position Transcript:  4667
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1534, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11931):
TTAATTGTGAGAGATTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACTTCTGTGTAACCGAATGAATGTTGACTTAAATACGGAGA
D
AGTCTCAAGACAGGTCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACCGTTTTCCGTTGTTAGGTCAAATAACTAACTGTCTCTGGG
Celera SNP ID:            hCV8524515
SNP Position Transcript:  11511
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,1|A,1|-,9)   total(G,1|A,1|-,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1383, None   



Context             (SEQ ID NO:11932):
CACTGGATGCTGCCAACCCCAAAGGTTGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGA
Y
ATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTG
Celera SNP ID:            hCV25922115
SNP Position Transcript:  5015
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,25)   caucasian(C,1|T,27)   total(C,2|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1650, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11933):
AGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTGCGC
Y
TGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAGCCTTGGGACCTTCTCACTGGATGCT
Celera SNP ID:            hCV25629467
SNP Position Transcript:  4825
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,2)   caucasian(C,40)   total(C,66|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1587, (P,CCT)   (L,CTT)   



Context             (SEQ ID NO:11934):
GAGTGTAACTGCTCAGGGCCCGGCATCCAGGAGCTCACAGACCCTACCTGTGACACAGACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCC
R
CTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTGCGCCTGGCGTGTGTGACCCCCTCACA
Celera SNP ID:            hCV25629468
SNP Position Transcript:  4747
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,2|G,36)   total(A,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1561, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:11935):
ACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCT
R
TACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCTCCGTTATGAACTGCACTCAGAGACCCAGCGGGGAGATGTCT
Celera SNP ID:            hCV27492608
SNP Position Transcript:  5144
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1693, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:11936):
AGGGATGCACCCTGGGGAGGGTTGCGCGGGGAGGAGGGAGGCCTGCTGGGCGTACCCCGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCC
R
CAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCG
Celera SNP ID:            hCV27164173
SNP Position Transcript:  6250
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,1)   total(G,1|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2062, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11937):
TCATCAAGTTTGCCAACTCACCCCGGCCGGACCTCTGGGTGCTGGAGCGGTCCATGGACTTCGGCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTC
Y
AAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGCGGCCATCTGCACCACCGAGTACTCACGCATCGGCCACA
Celera SNP ID:            hCV9572596
SNP Position Transcript:  638
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 191, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:11938):
TGCAGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTG
Y
GCCTGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAGCCTTGGGACCTTCTCACTGGAT
Celera SNP ID:            hCV25921640
SNP Position Transcript:  4822
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,1)   caucasian(C,2)   total(C,23|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1586, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:11939):
AGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGC
Y
GAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCATGGGACCCCAGTGCCGCGAGTGTGCCCCTGGCTACTGGGGGCTCC
Celera SNP ID:            hCV16183200
SNP Position Transcript:  6371
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 2102, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11940):
TGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTC
R
ATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCAT
Celera SNP ID:            hCV16183201
SNP Position Transcript:  6327
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 2088, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:11941):
CTGTTACTACGACCCTGAGGTGGACCGGCGCCGCGCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACC
R
CCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTTCTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTCCGA
Celera SNP ID:            hCV27849026
SNP Position Transcript:  1278
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,22)   caucasian(A,6|G,18)   total(A,16|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 405, (T,ACC)   (A,GCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,1|G,33)   total(A,8|G,58)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 405, (T,ACC)   (A,GCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 405, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11942):
CCCTGCAGCAGGGCCGTGTGAGCCTACAGCTCCTGAGGACTGAAGTGAAAACTCAAGCGGGCTTCGCCGATGGTGCCCCCCATTACGTCGCCTTCTACAG
Y
AATGCCACGGGAGTCTGGCTGTATGTCGATGACCAGCTCCAGCAGATGAAGCCCCACCGGGGACCACCCCCCGAGCTCCAGCCGCAGCCTGAGGGGCCCC
Celera SNP ID:            hCV8236117
SNP Position Transcript:  9779
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 3238, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:11943):
CGTTGTTAGGTCAAATAACTAACTGTCTCTGGGACCCTACAGCAGCTCCCCACGCTAGCACCTGTCCAGCCGAAACTCCCTTTGGGCAAAGAAACTAAGC
R
TTGGC
Celera SNP ID:            hCV16232654
SNP Position Transcript:  11679
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1383, None   



Context             (SEQ ID NO:11944):
CCTGCGCCTGGAGCTGGAGGAGGCTGCCACACCTGAGGGTCACGCCGTGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTAC
R
CGCAGATGGCACCTGTCCAGCCCAGGATCGTGGCCAGGCTGAACCTGACCTCCCCCGACCTTTTCTGGCTCGTCTTCCGATACGTCAACCGGGGGGCCAT
Celera SNP ID:            hCV25762898
SNP Position Transcript:  2787
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,1|G,17)   total(A,1|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 908, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:11945):
GGAAGCCTGCGACTGCCAACAGTGCCAACGAGTGCCAGTCCTGTAACTGCTACGGCCATGCCACCGACTGTTACTACGACCCTGAGGTGGACCGGCGCCG
Y
GCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACCGCCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCT
Celera SNP ID:            hCV25629502
SNP Position Transcript:  1211
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,34)   total(C,67|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 382, (R,CGC)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 382, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11946):
CCGCCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTTCTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTC
Y
GACTTCACGGATGGCACCTGCGAGGACCTGACGGGTCGATGCTACTGCCGGCCCAACTTCTCTGGGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGG
Celera SNP ID:            hCV25921648
SNP Position Transcript:  1376
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,3)   caucasian(C,40)   total(C,67|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 437, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:11947):
AGTGCCTCTGCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATG
Y
GACTGCAGCGGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCT
Celera SNP ID:            hCV22273674
SNP Position Transcript:  5975
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,4)   caucasian(C,30)   total(C,52|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1970, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11948):
AGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATCACATTCCTGGAGCCGGCATACCCCACGCCTGGCCAC
R
TTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGACTCGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCT
Celera SNP ID:            hCV1763952
SNP Position Transcript:  5337
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(A,1|G,35)   total(A,3|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1758, (I,ATT)   (V,GTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,7)   total(G,7|A,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1758, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:11949):
GGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCTCCGTTATGAACTG
Y
ACTCAGAGACCCAGCGGGGAGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATCACATTCCTGGAGCCGGC
Celera SNP ID:            hCV25629472
SNP Position Transcript:  5217
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36|T,2)   total(C,67|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1718, (H,CAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1718, (H,CAC)   (Y,TAC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1718, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:11950):
GGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTG
Y
GGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCT
Celera SNP ID:            hCV1763954
SNP Position Transcript:  5103
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,5)   total(C,5|T,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1680, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:11951):
GCTTCCCCAACTGCAGGCCCTGTGACTGCGGTGCCCGCCTCTGTGACGAGCTCACGGGCCAGTGCATCTGCCCGCCACGCACCATCCCGCCCGACTGCCT
R
CTGTGCCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCCCGGCATCCAGGAGCTCACAGACCCTACCTGTG
Celera SNP ID:            hCV1763956
SNP Position Transcript:  4598
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,23)   caucasian(A,14|G,22)   total(A,27|G,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1511, (L,CTA)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,7)      total(G,3|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1511, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:11952):
AGATGAGCATCACATTCCTGGAGCCGGCATACCCCACGCCTGGCCACGTTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGAC
K
CGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCTCCC
Celera SNP ID:            hCV25629475
SNP Position Transcript:  5390
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(T,38)   total(G,3|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1775, (T,ACG)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1775, (T,ACG)   (T,ACT)      



Context             (SEQ ID NO:11953):
ACTCGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCT
Y
CCTGCGCAGGGTGGCACTGGAGGTGGCCAGCCCAGCAGGCCAGGGGGCCCTGGCCAGCAATGTGGAGCTGTGCCTGTGCCCCGCCAGCTACCGGGGGGAC
Celera SNP ID:            hCV25629476
SNP Position Transcript:  5488
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,36)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1808, (S,TCC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 1808, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:11954):
CGCCCTGCTGCCCGGCAACTGCACCCGTAGGCGTCGGGCTGGGAGGGATGCACCCTGGGGAGGGTTGCGCGGGGAGGAGGGAGGCCTGCTGGGCGTACCC
R
GGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCA
Celera SNP ID:            hCV25629477
SNP Position Transcript:  6207
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,33)   caucasian(G,40)   total(A,1|G,73)
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1383, None



Context             (SEQ ID NO:11955):
TTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCAGCCTGAGTTTGC
Y
GGACCTCATTGTGACCGGTGCCGCCCTGGCTACCATGGTTTCCCCAACTGCCAAGCATGCACCTGCGACCCTCGGGGAGCCCTGGACCAGCTCTGTGGGG
Celera SNP ID:            hCV22274695
SNP Position Transcript:  1913
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,10)   caucasian(T,2)   total(C,8|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 616, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 616, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11956):
TGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGGCCGCACCCAGTGCCTCTGCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGC
R
CCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAGCGGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACC
Celera SNP ID:            hCV25629478
SNP Position Transcript:  5924
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1953, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:11957):
GCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAG
Y
GGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCT
Celera SNP ID:            hCV25629479
SNP Position Transcript:  5984
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1383, 1973, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:11958):
CGCGCGGCTCCCCGCGCCCCACCGAGGACCTTTACTGCAAGCTGGTAGGGGGCCCCGTGGCCGGCGGCGACCCCAACCAGACCATCCGGGGCCAGTACTG
Y
GACATCTGCACGGCTGCCAACAGCAACAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAGTCCACCGCTGTCCCGCGGCC
Celera SNP ID:            hCV1763994
SNP Position Transcript:  374
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,8)   caucasian(C,26|T,10)   total(C,54|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 103, (C,TGC)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,3)      total(C,3|T,2) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1383, 103, (C,TGC)   (C,TGT)      103, (C,TGT)   (C,TGC)      



Gene Number:                 264
Celera Gene:                 hCG41774 - 146000220192570
Celera Transcript:           hCT2312184 - 146000220192571
Public Transcript Accession: NM_005560
Celera Protein:              hCP1857260 - 197000069370394
Public Protein Accession:    NP_005551
Gene Symbol:                 LAMA5
Protein Name:                laminin, alpha 5;KIAA1907
Celera Genomic Axis:         GA_x5YUV32VYHA(1927964..1986475)
Chromosome:                  Chr20
OMIM number:                 601033
OMIM Information:            LAMININ, ALPHA-5;LAMA5


Transcript Sequence (SEQ ID NO:687):
ACCCGCCGGGCTCCCGCCGCGCGCGCTGTCCCTGGAGCTCGGGGACGCGGCCCGGAGCCGGGAAGATGGCGAAGCGGCTCTGCGCGGGGAGCGCACTGTG
TGTTCGCGGCCCCCGGGGCCCCGCGCCGCTGCTGCTGGTCGGGCTGGCGCTGCTGGGCGCGGCGCGGGCGCGGGAGGAGGCGGGCGGCGGCTTCAGCCTG
CACCCGCCCTACTTCAACCTGGCCGAGGGCGCCCGCATCGCCGCCTCCGCGACCTGCGGAGAGGAGGCCCCGGCGCGCGGCTCCCCGCGCCCCACCGAGG
ACCTTTACTGCAAGCTGGTAGGGGGCCCCGTGGCCGGCGGCGACCCCAACCAGACCATCCGGGGCCAGTACTGYGACATCTGCACGGCTGCCAACAGCAA
CAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAGYCCACCGCTGTCCCGCGGCCTGGAGTACAACGAGGTCAACGTCACC
CTGGACCTGGGCCAGGTCTTCCACGTGGCCTACGTCCTCATCAAGTTTGCCAACTCACCCCGGCCGGACCTCTGGGTGCTGGAGCGGTCCATGGACTTCG
GCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTCYAAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGC
RGCCATCTGCACCACCGAGTACTCACGCATCGTGCCCCTGGAGAACGGAGAGATCGTGGTGTCCCTGGTGAACGGACGTCCGGGCGCCATGAATTTCTCC
TACTCGCCGCTGCTACGTGAGTTCACCAAGGCCACCAACGTCCGCCTGCGCTTCCTGCGTACCAACACGCTGCTGGGCCATCTCATGGGGAAGGCGCTGC
GGGACCCCACGGTCACCCGCCGGTATTATTACAGCATCAAGGATATCAGCATCGGAGGCCGCTGTGTCTGCCACGGCCACGCGGATGCCTGCGATGCCAA
AGACCCCACGGACCCGTTCAGGCTGCAGTGCACCTGCCAGCACAACACCTGCGGGGGCACCTGCGACCGCTGCTGCCCCGGCTTCAATCAGCAGCCGTGG
AAGCCTGCGACTGCCAACAGTGCCAACGAGTGCCAGTCCTGTAACTGCTACGGCCATGCCACCGACTGTTACTACGACCCTGAGGTGGACCGGCGCCGYG
CCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACCRCCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTT
CTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTCYGACTTCACGGATGGCACCTGCGAGGACCTGACGGGT
CGATGCTACTGCCGGCCCAACTTCTCTGGGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGGGCTTCCCAAGCTGCTACCCGACGCCCTCGTCCTCCA
ATGACACCAGGGAGCAGGTGCTGCCAGCYGGCCAGATTGTGAATTGTGACTGCAGCGCGGCAGGGACCCAGGGCAACGCCTGCCGGAAGGACCCAAGGGT
GGGACGCTGTCTGTGCAAACCCAACTTCCAAGGCACCCATTGTGAGCTCTGCGCGCCAGGGTTCTACGGCCCCGGCTGCCAGCCCTGCCAGTGTTCCAGC
CCTGGAGTGGCCGATGACCGCTGTGACCCTGACACAGGCCAGTGCAGGTGCCGAGTGGGCTTCGAGGGGGCCACATGTGATCGCTGTGYCCCCGGCTACT
TTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCAGCCTGAGTTTGC
YGGACCTCATTGTGACCGGTGCCGCCCTGGCTACCATGGTTTCCCCAACTGCCAAGCATGCACCTGCGACCCTCGGGGAGCCCTGGACCAGCTCTGTGGG
GCGGGAGGTTTGTGCCGCTGCCGCCCCGGCTACACAGGCACTGCCTGCCAGGAATGCAGCCCCGGCTTTCACGGCTTCCCCAGCTGTGTCCCCTGCCACT
GCTCTGCTGAAGGSTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACAYRTGTGTGCC
CGGTGCCTACAACTTCCCCTACTGCGAAGCTGGCTCTTGCCACCCTGCCGGTCTGGCCCCAGTGGATCCTGCCCTTCCTGAGGCACAGGTTCCCTGTATG
TGCCGGGCTCACGTGGAGGGGCCGAGCTGTGACCGCTGCAAACCTGGGTTCTGGGGACTGAGCCCCAGCAACCCCGAGGGCTGTACCCGCTGCAGCTGCG
ACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCACYGGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTGCAM
GGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCAGCTGCCGGTGTGACATTGGCGGTGCACTGGGCCAGAGCTGTGAACCGAGGACG
GGCGTCTGCCGGTGCCGCCCCAACACCCAGGGCCCCACCTGCAGCGAGCCTGCGAGGGACCACTACCTCCCGGACCTGCACCACCTGCGCCTGGAGCTGG
AGGAGGCTGCCACACCTGAGGGTCACGCCRTGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTACRCGCAGATGGCACCTGT
CCAGCCCAGGATCGTGGCCAGGCTGAACCTGACCTCCCCCGACCTTTTCTGGCTCGTCTTCCGATACGTCAACCGGGGGGCCATGAGTGTGAGCGGGCGG
GTCTCTGTGCGAGAGGAGGGCAGGTCGGCCGCCTGTGCCAACTGCACAGCACAGAGTCAGCCCGTGGCCTTCCCACCCAGCACGGAGCCTGCCTTCATCA
CCGTGCCCCAGAGGGGCTTCGGAGAGCCCTTTGTGCTGAACCCTGGCACCTGGGCCCTGCGTGTGGAGGCCGAAGGGGTGCTCCTGGACTACGTGGTTCT
GCTGCCTAGCGCATACTACGAGGCGGCGCTCCTGCAGCTGCGGGTGACTGAGGCCTGCACATACCGTCCCTCTGCCCAGCAGTCTGGCGACAACTGCCTC
CTCTACACACACCTCCCCCTGGATGGCTTCCCCTCGGCCGCCGGGCTGGAGGCCCTGTGTCGCCAGGACAACAGCCTGCCCCGGCCCTGCCCCACGGAGC
AGCTCAGCCCGTCGCACCCGCCACTGATCACCTGCACGGGCAGTGATGTGGACGTCCAGCTTCAAGTGGCAGTGCCACAGCCAGGCCGCTATGCCCTAGT
GGTGGAGTACGCCAATGAGGATGCCCGCCAGGAGGTGGGCGTGGCTGTGCACACCCCACAGCGGGCCCCCCAGCAGGGGCTGCTCTCCCTGCACCCCTGC
CTGTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCGARC
AGKCACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGGCGC
CTTTGGCCCCAACAGTGCCGCCTGTCTGCCCTCGCGCTTCCCAAAGCCGCCCCAGCCCATCATCCTCAGGGACTGCCAGGTGATCCCGCTGCCGCCCGGC
CTCCCGCTGACCCACGCGCAGGATCTCACTCCAGCCAYGTCCCCAGCTGGACCCCGACCTCGGCCCCCCACCGCTGTGGACCCTGATGCAGAGCCCACCC
TGCTGCGTGAGCCCCAGGCCACCGTGGTCTTCACCACCCATGTGCCCACGCTGGGCCGCTATGCCTTCCTGCTGCACGGCTACCAGCCAGCCCACCCCAC
CTTCCCCGTGGAAGTCCTCATCAACGCCGGCCGCGTGTGGCAGGGCCACGCCAACGCCAGCTTCTGTCCACATGGCTACGGCTGCCGCACCCTGGTGGTG
TGTGAGGGCCAGGCCCTGCTGGACGTGACCCACAGCGAGCTCACTGTGACCGTGCGTGTGCCCRAGGGCCGGTGGCTCTGGCTGGATTATGTACTCGTGG
TCCCTGAGAACGTCTACAGCTTTGGCTACCTCCGGGAGGAGCCCCTGGATAAATCCTATGACTTCATCAGCCACTGCGCAGCCCAGGGCTACCACATCAG
CCCCAGCAGCTCATCCCTGTTCTGCCGAAACGCTGCTGCTTCCCTCTCCCTCTTCTATAACAACGGAGCCCGTCCATGTGGCTGCCACGAAGTAGGTGCT
ACAGGCCCCACGTGTGAGCCCTTCGGGGGCCAGTGTCCCTGCCATGCCCATGTCATTGGCCGTGACTGCTCCCGCTGTGCCACCGGATACTGGGGCTTCC
CCAACTGCAGGCCCTGTGACTGCGGTGCCCGCCTCTGTGACGAGCTCACGGGCCAGTGCATCTGCCCGCCACGCACCATCCCGCCCGACTGCCTRCTGTG
CCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCCYGGCATCCAGGAGCTCACAGACCCTACCTGTGACACA
GACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCCRCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACT
GTCACGAGGCGGGCACTGYGCYTGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAGCCT
TGGGACCTTCTCACTGGATGCTGCCAACCCCAAAGGTTGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAG
GAGTTCGTGGAYATGGAGGGATGGGTGCTGCTGAGCAYTGACCGGCAGGTGGTGCCCCACGAGYGGCAGCCAGGGAYGGAGATGCTCCGTGCAGACCTGY
GGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTRTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCT
CCGTTATGAACTGYACTCAGAGACCCAGCGGGGAGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATCACA
TTCCTGGAGCCGGCATACCCCACGCCTGGCCACRTTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGACKCGCAACACTGTGT
CCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCTYCCTGCGCAGGGTGGC
ACTGGAGGTGGCCAGCCCAGCAGGCCAGGGGGCCCTGGCCAGCAATGTGGAGCTGTGCCTGTGCCCCGCCAGCTACCGGGGGGACTCATGCCAGGAATGT
GCCCCCGGCTTCTATCGGGACGTCAAAGGTCTCTTCCTGGGCCGATGTGTCCCTTGTCAGTGCCATGGACACTCAGACCGCTGCCTCCCTGGCTCTGGCG
TCTGTGTGGACTGCCAGCACAACACCGAAGGGGCCCACTGTGAGCGCTGCCAGGCTGGCTTCRTGAGCAGCAGGGACGACCCCAGCACCCCCTGTGTCAG
CTGCCCCTGCCCCCTCTCAGTGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGGCCGCACCCAGTGCCTCTGCAAACCTGGTTATGCAGGT
GCCTCCTGCGAGCGGTGTGCRCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGYGACTGCAGYGGCAAYGGTGACCCCAACT
TGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCTGTGCCCCCGGCTTCTACGG
CAACGCCCTGCTGCCCGGCAACTGCACCCGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCCRCAGCGGGCACTGCCTGTGCAAGGCGGGC
GTGACTGGGCGGCGCTGTGACCRCTGCCAGGAGGGACATTTTGGTTTYRATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCYGAGGGCT
CCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCATGGGACCCCAGTGCCGCGAGTGTGCCCCTGGCTACTGGGGGCTCCCTGAGCA
GGGCTGCAGGCGCTGCCAGTGCCCTGGGGGCCGCTGTGACCCTCACACGGGCCGCTGCAACTGCCCCCCGGGGCTCAGCGGGGAGCGCTGCGACACCTGC
AGCCAGCAGCATCAGGTGCCTGTTCCAGGCGGGCCTGTGGGCCACAGCATCCACTGTGAAGTGTGTGACCACTGTGTGGTCCTGCTCCTGGATGACCTGG
AACGGGCCGGCGCCCTCCTCCCCGCCATTCACGAGCAACTGCGTGGCATCAATGCCAGCTCCATGGCCTGGGCCCGTCTGCACAGGCTGAACGCCTCCAT
CGCTGACCTGCAGAGCCAGCTCCGGAGCCCCCTGGGCCCCCRCCATGAGACGGCACAGCAGCTGGAGGTGCTGGAGCAGCAGAGCACAAGCCTCGGGCAG
GACGCACGGCGGCTAGGCGGCCAGGCYGTGGGGACCCGAGACCAGGCGAGCCAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGT
TGGCGGCCATCCGGGCTGTGGACCGCACCCTGAGCGAGCTCATGTCCCAGAYGGGCCACCTGGGGCTGGCCAATGCCTCGGCTCCATCAGGTGAGCAGCT
GCTCCGGACACTGGCCGAGGTGGAGCGGCTGCTCTGGGAGATGCGGGCCCGGGACCTGGGGGCCCCGCAGGCAGCAGCTGAGGCTGAGTTGGCTGCAGCA
CAGAGATTGCTGGCCCGGGTGCAGGAGCAGCTGAGCAGCCTCTGGGAGGAGAACCAGGCACTGGCCACACAAACCCGCGACCGGCTGGCCCAGCACGAGG
CCGGCCTCATGGACCTGCGAGAGGCTTTGAACCGGGCAGTGGACGCCACACGGGAGGCCCAGGAGCTCAACAGCCGCAACCAGGAGCGCCTGGAGGAAGC
CCTGCAAAGGAAGCAGGAGCTGTCCCGGGACAATGCCACCCTGCAGGCCACTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCAC
AGCCTGGACCAGGCTAAGGAGGAGCTGGAGCRCCTCGCCGCCAGCCTGGAYGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGG
GCAGCAAGCTGCGTCTAGTGGAGGCCRCCGAGGCCCACGCACAGCAGCTGGGCCAGCTGGCACTCAATCTGTCCAGCATCATCCTGGACGTCAACCAGGA
CCGCCTCACCCAGAGGGCCATCGAGGCCTCCAACGCCTACAGCCGCATCCTGCAGGCCGTGCAGGCTGCCGAGGATGCTGCTGGCCAGGCCCTGCAGCAG
GCGGACCACACGTGGGCGACGGTGGTGCGGCAGGGCCTGGTGGACCGAGCCCAGCAGCTCCTGGCCAACAGCACTGCACTAGAAGAGGCCATGCTCCAGG
AACAGCAGAGGCTGGGCCTTGTGTGGGCTGCCCTCCAGGGTGCCAGGACCCAGCTCCGAGATGTCCGGGCCAAGAAGGACCAGCTGGAGGCGCACATCCA
GGCGGCGCAGGCCATGCTTGCCATGGACACAGACGAGACAAGCAAGAAGATCGCACATGCCAAGGCTGTGGCTGCTGAAGCCCAGGACACCGCCACCCGT
GTGCAGTCCCAGCTGCAGGCCATGCAGGAGAATGTGGAGCGGTGGCAGGGCCAGTACGAGGGCCTGCGGGGCCAGGACCTGGGCCAGGCAGTGCTTGACG
CAGGCCACTCAGTGTCCACCCTGGAGAAGACGCTGCCCCAGCTGCTGGCCAAGCTGAGCATCCTGGAGAACCGTGGGGTGCACAACGCCAGCCTGGCCCT
GTCCGCCAGCATTGGCCGCGTGCGAGAGCTCATTGCCCAGGCCCGGGGGGCTGCCAGTAAGGTCAAGGTGCCCATGAAGTTCAACGGGCGCTCAGGGGTG
CAGCTGCGCACCCCACGGGATCTTGCCGACCTTGCTGCCTACACTGCCCTCAAGTTCTACCTGCAGGGCCCAGAGCCTGAGCCTGGGCAGGGTACCGAGG
ATCGCTTTGTGATGTACATGGGCAGCCGCCAGGCCACTGGGGACTACATGGGTGTGTCTCTGCGTGACAAGAAGGTGCACTGGGTGTATCAGCTGGGTGA
GGCGGGCCCTGCAGTCCTAAGCATCGATGAGGACATTGGGGAGCAGTTCGCAGCTGTCAGCCTGGACAGGACTCTCCAGTTTGGCCACATGTCCGTCACA
GTGGAGAGACAGATGATCCAGGAAACCAAGGGTGACACGGTGGCCCCTGGGGCAGAGGGGCTGCTCAACCTGCGGCCAGACGACTTCGTCTTCTACGTCG
GGGGGTACCCCAGTACCTTCACGCCCCCTCCCCTGCTTCGCTTCCCCGGCTACCGGGGCTGCATCGAGATGGACACGCTGAATGAGGAGGTGGTCAGCCT
CTACAACTTCGAGAGGACCTTCCAGCTGGACACGGCTGTGGACAGGCCTTGTGCCCGCTCCAAGTCGACCGGGGACCCGTGGCTCACGGACGGCTCCTAC
CTGGACGGCACCGGCTTCGCCCGCATCAGCTTCGACAGTCAGATCAGCACCACCAAGCGCTTCGAGCAGGAGCTGCGGCTCGTGTCCTACAGCGGGGTGC
TCTTCTTCCTGAAGCAGCAGAGCCAGTTCCTGTGYTTGGCCGTGCAAGAAGGCAGCCTCGTGCTGTTGTATGACTTTGGGGCTGGCCTGAAAAAGGCCGT
CCCACTGCAGCCCCCACCGCCCCTGACCTCGGCCAGCAAGGCGATCCAGGTGTTCCTGCTGGGGGGCAGCCGCAAGCGTGTGCTGGTGCGTGTGGAGCGG
GCCACGGTGTACAGCGTGGAGCAGGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGAY
GGCTCTTCCCCACCGGAGGCTCASTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAG
CGCCGGCTGCACYGCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGC
AACGTCTACTCYGGCTTCGGCTTCCACAGCGCCCAGGACAGTGCCCTGCTCTACTACCGGGCGTCCCCGGATGGGCTATGCCAGGTGTCCCTGCAGCAGG
GCCGTGTGAGCCTACAGCTCCTGAGGACTGAAGTGAAAACTCAAGCGGGCTTCGCCGATGGTGCCCCCCATTACGTCGCCTTCTACAGYAATGCCACGGG
AGTCTGGCTGTATGTCGATGACCAGCTCCAGCAGATGAAGCCCCACCGGGGACCACCCCCCGAGCTCCAGCCGCAGCCTGAGGGGCCCCCGAGGCTCCTC
CTGGGAGGCCTGCCTGAGTCTGGCACCATTTACAACTTCAGTGGCTGCATCAGCAACGTCTTCGTGCAGCGGCTCCTGGGCCCACAGCGCGTATTTGATC
TGCAGCAGAACCTGGGCAGCGTCAATGTGAGCACGGGCTGTGCACCCGCCCTGCAAGCCCAGACCCCGGGCCTGGGGCCTAGAGGACTGCAGGCCTCCCG
CCGCAGCCGTCAGCCCGCCCGGCATCCTGCCTGCATGCTGCCCCCACACCTSAGGACCACCCGAGACTCCTACCAGTTTGGGGGTTCCCTGTCCAGTCAC
CTGGAGTTTGTGGGCATCCTGGCCCGACATAGGAACTGGCCCAGTCTCTCCATGCACGTCCTCCCGCGAAGCTCCCGAGGCCTCCTCCTCTTCACTGCCC
GTCTGAGGCCCGGCAGCCCCTCCCTGGCGCTCTTCCTGAGCAATGGCCACTTCGTTGCACAGATGGAAGGCCTCGGGACTCGGCTCCGCGCCCAGAGCCG
CCAGCGCTCCCGGCCTGGCCGCTGGCACAAGGTCTCCGTGCGCTGGGAGAAGAACCGGATCCTGCTGGTGACGGACGGGGCCCGGGCCTGGAGCCAGGAG
GGGCCGCACCGGCAGCACCAGGGGGCAGAGCACCCCCAGCCCCACACCCTCTTTGTGGGCGGCCTCCCGGCCAGCAGCCACAGCTCCAAACTTCCGGTGA
CCGTCGGGTTCAGCGGCTGTGTGAAGAGACTGAGGCTGCACGGGAGGCCCCTGGGGGCCCCCACACGGATGGCAGGGGTCACACCCTGCATCTTGGGCCC
CCTGGAGGCGGGCCTGTTCTTCCCAGGCAGCGGGGGAGTTATCACTTTAGACCTCCCAGGAGCTACACTGCCTGATGTGGGCCTGGAACTGGAGGTGCGG
CCCCTGGCAGTCACCGGACTGATCTTCCACTTGGGCCAGGCCCGGACGCCCCCCTACTTGCAGTTGCAGGTGACCGAGAAGCAAGTCCTGCTGCGGGCGG
ATGACGGAGCAGGGGAGTTCTCCACGTCAGTGACCCGCCCCTCAGTGCTGTGTGATGGCCAGTGGCACCGGCTAGCGGTGATGAAAAGCGGGAATGTGCT
CCGGCTGGAGGTGGACGCGCAGAGCAACCACACCGTGGGCCCCTTGCTGGCGGCTGCAGCTGGTGCCCCAGCCCCTCTGTACCTCGGGGGCCTGCCTGAG
CCCATGGCCGTGCAGCCCTGGCCCCCCGCCTACTGCGGCTGCATGAGGAGGCTGGCGGTGAACCGGTCCCCCGTCGCCATGACTCGCTCTGTGGAGGTCC
ACGGGGCAGTGGGGGCCAGTGGCTGCCCAGCCGCCTAGGACACAGCCAACCCCGGCCCCTGGTCAGGCCCCTGCAGCTGCCTCACACCGCYCCTTGTGCT
CGCCTCATAGGTGTCTATTTGGACTCTAAGCTCTACGGGTGACAGATCTTGTTTCTGAAGATGGTTTAAGTTATAGCTTCTTAAACGAAAGAATAAAATA
CTGCAAAATGTTTTTATATTTGGCCCTTCCACCCATTTTTAATTGTGAGAGATTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACT
TCTGTGTAACCGAATGAATGTTGACTTAAATACGGAGADAGTCTCAAGACAGRTCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACC
GTTTTCCGTTGTTAGGTCAAATAACTAACTGTCTCTGGGACCCTACAGCAGCTCCCCACGCTAGCACCTGTCCAGCCGAAACTCCCTTTGGGCAAAGAAA
CTAAGCRTTGGC

Protein Sequence    (SEQ ID NO:1384):
MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRG
QYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFG
PQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRC
VCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHT
AGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIVNCDCSAAG
TQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQPCQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLPEGCD
EAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTACQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQCSCRP
RVTGLRCDTCVPGAYNFPYCEAGSCHPAGLAPVDPALPEAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRCSCDLRGTLGGVAECQPGTGQCFCK
PHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQSCEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFEN
FSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSAACANCTAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALRV
EAEGVLLDYVVLLPSAYYEAALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQLSPSHPPLITCTGSDVDVQLQ
VAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLLSLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEFV
EPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPATSPAGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRYA
FLLHGYQPAHPTFPVEVLINAGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPEGRWLWLDYVLVVPENVYSFGYLREEPLDKSYDF
ISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGCHEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCIC
PPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRRCDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCKE
NVQGPKCDQCSLGTFSLDAANPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRHVPEAVPEAFPELYWQAPPSY
LGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGNQMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALFS
QISSAVSLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGRCVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGFV
SSRDDPSTPCVSCPCPLSVPSNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLLFSDCDPLTGACRGCLRHTTG
PRCEICAPGFYGNALLPGNCTRCDCTPCGTEACDPHSGHCLCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGPAAEGSECHPQSGQCHCRPGTMGPQCR
ECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGHSIHCEVCDHCVVLLLDDLERAGALLPAIHEQLRGINASSM
AWARLHRLNASIADLQSQLRSPLGPHHETAQQLEVLEQQSTSLGQDARRLGGQAVGTRDQASQLLAGTEATLGHAKTLLAAIRAVDRTLSELMSQTGHLG
LANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEAELAAAQRLLARVQEQLSSLWEENQALATQTRDRLAQHEAGLMDLREALNRAVDATREAQE
LNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAASLDGARTPLLQRMQTFSPAGSKLRLVEAAEAHAQQLGQLAL
NLSSIILDVNQDRLTQRAIEASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANSTALEEAMLQEQQRLGLVWAALQGARTQLRDV
RAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQDTATRVQSQLQAMQENVERWQGQYEGLRGQDLGQAVLDAGHSVSTLEKTLPQLLAKLSIL
ENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYTALKFYLQGPEPEPGQGTEDRFVMYMGSRQATGDYMGVSLR
DKKVHWVYQLGEAGPAVLSIDEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLRPDDFVFYVGGYPSTFTPPPLLRFPGYRGCI
EMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWLTDGSYLDGTGFARISFDSQISTTKRFEQELRLVSYSGVLFFLKQQSQFLCLAVQEGSLVL
LYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELADAYYLGGVPPDQLPPSLRRLFPTGGSVRGCVKGIKALGKY
VDLKRLNTTGVSAGCTADLLVGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDGLCQVSLQQGRVSLQLLRTEVKTQAGFADGA
PHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEGPPRLLLGGLPESGTIYNFSGCISNVFVQRLLGPQRVFDLQQNLGSVNVSTGCAPALQAQT
PGLGPRGLQASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARHRNWPSLSMHVLPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQM
EGLGTRLRAQSRQRSRPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVGGLPASSHSSKLPVTVGFSGCVKRLRLHGRPLGAPT
RMAGVTPCILGPLEAGLFFPGSGGVITLDLPGATLPDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLLRADDGAGEFSTSVTRPSVLCDGQW
HRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPAYCGCMRRLAVNRSPVAMTRSVEVHGAVGASGCPAA


SNP Information

Context             (SEQ ID NO:11959):
AATGCCACCCTGCAGGCCACTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCACAGCCTGGACCAGGCTAAGGAGGAGCTGGAGC
R
CCTCGCCGCCAGCCTGGACGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCCGCCGAG
Celera SNP ID:            hCV16232643
SNP Position Transcript:  7432
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2456, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11960):
CTCTGCATGCGGCTAGGGACACCCTGGCCAGCGTCTTCAGATTGCTGCACAGCCTGGACCAGGCTAAGGAGGAGCTGGAGCGCCTCGCCGCCAGCCTGGA
Y
GGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCCGCCGAGGCCCACGCACAGCAGCTGG
Celera SNP ID:            hCV16232644
SNP Position Transcript:  7451
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 2462, (D,GAC)   (D,GAT)      



Context             (SEQ ID NO:11961):
GTGGAGGTCCACGGGGCAGTGGGGGCCAGTGGCTGCCCAGCCGCCTAGGACACAGCCAACCCCGGCCCCTGGTCAGGCCCCTGCAGCTGCCTCACACCGC
Y
CCTTGTGCTCGCCTCATAGGTGTCTATTTGGACTCTAAGCTCTACGGGTGACAGATCTTGTTTCTGAAGATGGTTTAAGTTATAGCTTCTTAAACGAAAG
Celera SNP ID:            hCV27469526
SNP Position Transcript:  11191
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1384, None   



Context             (SEQ ID NO:11962):
GGGCCCCACCTGCAGCGAGCCTGCGAGGGACCACTACCTCCCGGACCTGCACCACCTGCGCCTGGAGCTGGAGGAGGCTGCCACACCTGAGGGTCACGCC
R
TGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTACGCGCAGATGGCACCTGTCCAGCCCAGGATCGTGGCCAGGCTGAACCT
Celera SNP ID:            hCV27847079
SNP Position Transcript:  2730
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,15)   caucasian(A,2|G,36)   total(A,5|G,51)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 889, (M,ATG)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,20)   caucasian(G,22)   total(A,6|G,42)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 889, (M,ATG)   (V,GTG)   



Context             (SEQ ID NO:11963):
GGAGCGCCTCGCCGCCAGCCTGGACGGGGCTCGGACCCCACTGCTGCAGAGGATGCAGACCTTCTCCCCGGCGGGCAGCAAGCTGCGTCTAGTGGAGGCC
R
CCGAGGCCCACGCACAGCAGCTGGGCCAGCTGGCACTCAATCTGTCCAGCATCATCCTGGACGTCAACCAGGACCGCCTCACCCAGAGGGCCATCGAGGC
Celera SNP ID:            hCV25762364
SNP Position Transcript:  7527
SNP Source:               Applera
Population(Allele,Count): african american(G,20)   caucasian(A,1|G,33)   total(A,1|G,53)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2488, (T,ACC)   (A,GCC)   



Context             (SEQ ID NO:11964):
CGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGA
Y
GGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGG
Celera SNP ID:            hCV8236094
SNP Position Transcript:  5077
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1671, (T,ACG)   (M,ATG)      1671, (M,ATG)   (T,ACG)      



Context             (SEQ ID NO:11965):
GGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGGGCTTCCCAAGCTGCTACCCGACGCCCTCGTCCTCCAATGACACCAGGGAGCAGGTGCTGCCAGC
Y
GGCCAGATTGTGAATTGTGACTGCAGCGCGGCAGGGACCCAGGGCAACGCCTGCCGGAAGGACCCAAGGGTGGGACGCTGTCTGTGCAAACCCAACTTCC
Celera SNP ID:            hCV25629445
SNP Position Transcript:  1529
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,10)   caucasian(C,15|T,21)   total(C,41|T,31)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 488, (A,GCC)   (A,GCT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,5)   total(C,5|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 488, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11966):
CAGTGTTCCAGCCCTGGAGTGGCCGATGACCGCTGTGACCCTGACACAGGCCAGTGCAGGTGCCGAGTGGGCTTCGAGGGGGCCACATGTGATCGCTGTG
Y
CCCCGGCTACTTTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCAG
Celera SNP ID:            hCV25629446
SNP Position Transcript:  1789
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 575, (A,GCC)   (V,GTC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,38)   total(C,71|T,1)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 575, (A,GCC)   (V,GTC)   



Context             (SEQ ID NO:11967):
TTCCCAAAGCCGCCCCAGCCCATCATCCTCAGGGACTGCCAGGTGATCCCGCTGCCGCCCGGCCTCCCGCTGACCCACGCGCAGGATCTCACTCCAGCCA
Y
GTCCCCAGCTGGACCCCGACCTCGGCCCCCCACCGCTGTGGACCCTGATGCAGAGCCCACCCTGCTGCGTGAGCCCCAGGCCACCGTGGTCTTCACCACC
Celera SNP ID:            hCV25629462
SNP Position Transcript:  3838
SNP Source:               Applera
Population(Allele,Count): african american(C,18|T,10)   caucasian(C,33|T,3)   total(C,51|T,13)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1258, (T,ACG)   (M,ATG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)   JBIC-allele(T,64|C,1437)   total(C,1437|T,64) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1258, (T,ACG)   (M,ATG)      



Context             (SEQ ID NO:11968):
GCCGCTGCCGCCCCGGCTACACAGGCACTGCCTGCCAGGAATGCAGCCCCGGCTTTCACGGCTTCCCCAGCTGTGTCCCCTGCCACTGCTCTGCTGAAGG
S
TCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACACGTGTGTGCCCGGTGCCTACAACT
Celera SNP ID:            hCV25629447
SNP Position Transcript:  2114
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 683, (G,GGC)   (G,GGG)   

SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|G,1)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 683, (G,GGC)   (G,GGG)   



Context             (SEQ ID NO:11969):
CTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAGCGGCAA
Y
GGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCTGTGCCC
Celera SNP ID:            hCV25629480
SNP Position Transcript:  5987
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,39|T,1)   total(C,72|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1974, (N,AAC)   (N,AAT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,6)   total(C,6|T,2) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1974, (N,AAC)   (N,AAT)      



Context             (SEQ ID NO:11970):
GTGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTT
Y
GATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCA
Celera SNP ID:            hCV1763946
SNP Position Transcript:  6248
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,2)      total(C,2|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 2061, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:11971):
TGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCA
Y
TGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAG
Celera SNP ID:            hCV22275574
SNP Position Transcript:  5038
SNP Source:               Applera
Population(Allele,Count): african american(C,7|T,7)   caucasian(C,7|T,11)   total(C,14|T,18)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1658, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:11972):
CTGTCCACATGGCTACGGCTGCCGCACCCTGGTGGTGTGTGAGGGCCAGGCCCTGCTGGACGTGACCCACAGCGAGCTCACTGTGACCGTGCGTGTGCCC
R
AGGGCCGGTGGCTCTGGCTGGATTATGTACTCGTGGTCCCTGAGAACGTCTACAGCTTTGGCTACCTCCGGGAGGAGCCCCTGGATAAATCCTATGACTT
Celera SNP ID:            hCV25629465
SNP Position Transcript:  4164
SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,27)   caucasian(G,32)   total(A,3|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1367, (K,AAG)   (E,GAG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,3|G,17)   caucasian(G,32)   total(A,3|G,49)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1367, (K,AAG)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1367, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:11973):
CCTGCCACTGCTCTGCTGAAGGCTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACAC
R
TGTGTGCCCGGTGCCTACAACTTCCCCTACTGCGAAGCTGGCTCTTGCCACCCTGCCGGTCTGGCCCCAGTGGATCCTGCCCTTCCTGAGGCACAGGTTC
Celera SNP ID:            hCV25629449
SNP Position Transcript:  2192
SNP Source:               Applera
Population(Allele,Count): african american(A,15|G,17)   caucasian(A,3|G,35)   total(A,18|G,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 709, (T,ACA)   (T,ACG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,11)   caucasian(A,3|G,31)   total(A,16|G,42)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 709, (T,ACA)   (T,ACG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 709, (T,ACA)   (T,ACG)      



Context             (SEQ ID NO:11974):
GCCCGCCACGCACCATCCCGCCCGACTGCCTACTGTGCCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCC
Y
GGCATCCAGGAGCTCACAGACCCTACCTGTGACACAGACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGG
Celera SNP ID:            hCV25629466
SNP Position Transcript:  4664
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,36)   total(C,71|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1533, (P,CCC)   (P,CCT)   



Context             (SEQ ID NO:11975):
GCCTGTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCGA
R
CAGGCACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGGCG
Celera SNP ID:            hCV1763964
SNP Position Transcript:  3599
SNP Source:               Applera
Population(Allele,Count): african american(A,6|G,4)   caucasian(A,2|G,24)   total(A,8|G,28)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1178, (E,GAA)   (E,GAG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1178, (E,GAA)   (E,GAG)      1178, (E,GAG)   (E,GAA)      



Context             (SEQ ID NO:11976):
TTAATTGTGAGAGATTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACTTCTGTGTAACCGAATGAATGTTGACTTAAATACGGAGA
D
AGTCTCAAGACAGGTCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACCGTTTTCCGTTGTTAGGTCAAATAACTAACTGTCTCTGGG
Celera SNP ID:            hCV8524515
SNP Position Transcript:  11439
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|G,1|A,1|-,9)   total(G,1|A,1|-,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1384, None   



Context             (SEQ ID NO:11977):
CACTGGATGCTGCCAACCCCAAAGGTTGCACCCGCTGCTTCTGCTTTGGGGCCACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGA
Y
ATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTG
Celera SNP ID:            hCV25922115
SNP Position Transcript:  5012
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,25)   caucasian(C,1|T,27)   total(C,2|T,52)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1649, (D,GAC)   (D,GAT)   



Context             (SEQ ID NO:11978):
GCCCCCTGGGCCCCCACCATGAGACGGCACAGCAGCTGGAGGTGCTGGAGCAGCAGAGCACAAGCCTCGGGCAGGACGCACGGCGGCTAGGCGGCCAGGC
Y
GTGGGGACCCGAGACCAGGCGAGCCAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGTTGGCGGCCATCCGGGCTGTGGACCGCA
Celera SNP ID:            hCV25629483
SNP Position Transcript:  6827
SNP Source:               Applera
Population(Allele,Count): african american(C,26)   caucasian(C,17|T,1)   total(C,43|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 2254, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:11979):
CGTGGCATCAATGCCAGCTCCATGGCCTGGGCCCGTCTGCACAGGCTGAACGCCTCCATCGCTGACCTGCAGAGCCAGCTCCGGAGCCCCCTGGGCCCCC
R
CCATGAGACGGCACAGCAGCTGGAGGTGCTGGAGCAGCAGAGCACAAGCCTCGGGCAGGACGCACGGCGGCTAGGCGGCCAGGCCGTGGGGACCCGAGAC
Celera SNP ID:            hCV25762906
SNP Position Transcript:  6742
SNP Source:               Applera
Population(Allele,Count): african american(A,9|G,27)   caucasian(A,11|G,23)   total(A,20|G,50)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2226, (H,CAC)   (R,CGC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,4|G,10)   caucasian(G,4)   total(A,4|G,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2226, (H,CAC)   (R,CGC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,4)      total(G,1|A,4) ;no_pop(G,-|A,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2226, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11980):
AGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTGCGC
Y
TGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAGCCTTGGGACCTTCTCACTGGATGCT
Celera SNP ID:            hCV25629467
SNP Position Transcript:  4822
SNP Source:               Applera
Population(Allele,Count): african american(C,26|T,2)   caucasian(C,40)   total(C,66|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1586, (P,CCT)   (L,CTT)   



Context             (SEQ ID NO:11981):
GAGTGTAACTGCTCAGGGCCCGGCATCCAGGAGCTCACAGACCCTACCTGTGACACAGACAGCGGCCAGTGCAAGTGCAGACCCAACGTGACTGGGCGCC
R
CTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTGCGCCTGGCGTGTGTGACCCCCTCACA
Celera SNP ID:            hCV25629468
SNP Position Transcript:  4744
SNP Source:               Applera
Population(Allele,Count): african american(G,26)   caucasian(A,2|G,36)   total(A,2|G,62)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1560, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:11982):
CAATTGCTGGCCGGCACCGAGGCCACACTGGGCCATGCGAAGACGCTGTTGGCGGCCATCCGGGCTGTGGACCGCACCCTGAGCGAGCTCATGTCCCAGA
Y
GGGCCACCTGGGGCTGGCCAATGCCTCGGCTCCATCAGGTGAGCAGCTGCTCCGGACACTGGCCGAGGTGGAGCGGCTGCTCTGGGAGATGCGGGCCCGG
Celera SNP ID:            hCV25629484
SNP Position Transcript:  6952
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,36)   total(C,63|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2296, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11983):
ACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCT
R
TACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCTCCGTTATGAACTGCACTCAGAGACCCAGCGGGGAGATGTCT
Celera SNP ID:            hCV27492608
SNP Position Transcript:  5141
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1692, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:11984):
TGCGAGATCTGTGCCCCCGGCTTCTACGGCAACGCCCTGCTGCCCGGCAACTGCACCCGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCC
R
CAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCG
Celera SNP ID:            hCV27164173
SNP Position Transcript:  6172
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,1)   total(G,1|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2036, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:11985):
ACAGTCAGATCAGCACCACCAAGCGCTTCGAGCAGGAGCTGCGGCTCGTGTCCTACAGCGGGGTGCTCTTCTTCCTGAAGCAGCAGAGCCAGTTCCTGTG
Y
TTGGCCGTGCAAGAAGGCAGCCTCGTGCTGTTGTATGACTTTGGGGCTGGCCTGAAAAAGGCCGTCCCACTGCAGCCCCCACCGCCCCTGACCTCGGCCA
Celera SNP ID:            hCV25629489
SNP Position Transcript:  9035
SNP Source:               Applera
Population(Allele,Count): african american(C,24)   caucasian(C,23|T,1)   total(C,47|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 2990, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:11986):
GGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGACGGCTCTTCCCCACCGGAGGCTCA
S
TCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAGCGCCGGCTGCACCGCCGACCTGCT
Celera SNP ID:            hCV29371004
SNP Position Transcript:  9324
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 3087, (L,CTC)   (V,GTC)      



Context             (SEQ ID NO:11987):
TCATCAAGTTTGCCAACTCACCCCGGCCGGACCTCTGGGTGCTGGAGCGGTCCATGGACTTCGGCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTC
Y
AAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGCGGCCATCTGCACCACCGAGTACTCACGCATCGTGCCCC
Celera SNP ID:            hCV9572596
SNP Position Transcript:  638
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 191, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:11988):
TGCAGACCCAACGTGACTGGGCGCCGCTGTGATACCTGCTCTCCGGGCTTCCATGGCTACCCCCGCTGCCGCCCCTGTGACTGTCACGAGGCGGGCACTG
Y
GCCTGGCGTGTGTGACCCCCTCACAGGGCAGTGCTACTGTAAGGAGAACGTGCAGGGCCCCAAATGTGACCAGTGCAGCCTTGGGACCTTCTCACTGGAT
Celera SNP ID:            hCV25921640
SNP Position Transcript:  4819
SNP Source:               Applera
Population(Allele,Count): african american(C,21|T,1)   caucasian(C,2)   total(C,23|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1585, (A,GCG)   (V,GTG)   



Context             (SEQ ID NO:11989):
AGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGC
Y
GAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCATGGGACCCCAGTGCCGCGAGTGTGCCCCTGGCTACTGGGGGCTCC
Celera SNP ID:            hCV16183200
SNP Position Transcript:  6293
SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 2076, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:11990):
TGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACCGCTGCCAGGAGGGACATTTTGGTTTC
R
ATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGACAGTGCCACTGCCGACCAGGGACCAT
Celera SNP ID:            hCV16183201
SNP Position Transcript:  6249
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2062, (N,AAT)   (D,GAT)      



Context             (SEQ ID NO:11991):
CTGTTACTACGACCCTGAGGTGGACCGGCGCCGCGCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACC
R
CCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTTCTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTCCGA
Celera SNP ID:            hCV27849026
SNP Position Transcript:  1266
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,22)   caucasian(A,6|G,18)   total(A,16|G,40)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 401, (T,ACC)   (A,GCC)   

SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,25)   caucasian(A,1|G,33)   total(A,8|G,58)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 401, (T,ACC)   (A,GCC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 401, (T,ACC)   (A,GCC)      



Context             (SEQ ID NO:11992):
CCCTGCAGCAGGGCCGTGTGAGCCTACAGCTCCTGAGGACTGAAGTGAAAACTCAAGCGGGCTTCGCCGATGGTGCCCCCCATTACGTCGCCTTCTACAG
Y
AATGCCACGGGAGTCTGGCTGTATGTCGATGACCAGCTCCAGCAGATGAAGCCCCACCGGGGACCACCCCCCGAGCTCCAGCCGCAGCCTGAGGGGCCCC
Celera SNP ID:            hCV8236117
SNP Position Transcript:  9689
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,3)      total(C,3|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 3208, (S,AGC)   (S,AGT)      



Context             (SEQ ID NO:11993):
CGTTGTTAGGTCAAATAACTAACTGTCTCTGGGACCCTACAGCAGCTCCCCACGCTAGCACCTGTCCAGCCGAAACTCCCTTTGGGCAAAGAAACTAAGC
R
TTGGC
Celera SNP ID:            hCV16232654
SNP Position Transcript:  11607
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1384, None   



Context             (SEQ ID NO:11994):
CCTGCGCCTGGAGCTGGAGGAGGCTGCCACACCTGAGGGTCACGCCGTGCGCTTTGGCTTCAACCCCCTCGAGTTCGAGAACTTCAGCTGGAGGGGCTAC
R
CGCAGATGGCACCTGTCCAGCCCAGGATCGTGGCCAGGCTGAACCTGACCTCCCCCGACCTTTTCTGGCTCGTCTTCCGATACGTCAACCGGGGGGCCAT
Celera SNP ID:            hCV25762898
SNP Position Transcript:  2784
SNP Source:               Applera
Population(Allele,Count): african american(G,30)   caucasian(A,1|G,17)   total(A,1|G,47)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 907, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:11995):
GGAAGCCTGCGACTGCCAACAGTGCCAACGAGTGCCAGTCCTGTAACTGCTACGGCCATGCCACCGACTGTTACTACGACCCTGAGGTGGACCGGCGCCG
Y
GCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAGCACCACACCGCCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCT
Celera SNP ID:            hCV25629502
SNP Position Transcript:  1199
SNP Source:               Applera
Population(Allele,Count): african american(C,33|T,1)   caucasian(C,34)   total(C,67|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 378, (R,CGC)   (R,CGT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,40)   total(C,75|T,1)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 378, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:11996):
CCCTGCCACTGCTCTGCTGAAGGCTCCCTGCACGCAGCCTGTGACCCCCGGAGTGGGCAGTGCAGCTGCCGGCCCCGTGTGACGGGGCTGCGGTGTGACA
Y
GTGTGTGCCCGGTGCCTACAACTTCCCCTACTGCGAAGCTGGCTCTTGCCACCCTGCCGGTCTGGCCCCAGTGGATCCTGCCCTTCCTGAGGCACAGGTT
Celera SNP ID:            hCV25761428
SNP Position Transcript:  2191
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,35|T,1)   total(C,72|T,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 709, (T,ACG)   (M,ATG)   



Context             (SEQ ID NO:11997):
CCGCCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTTCTACCGCTCTCCCAACCACCCTCTCGACTCGCCCCACGTCTGCCGCCGCTGCAACTGCGAGTC
Y
GACTTCACGGATGGCACCTGCGAGGACCTGACGGGTCGATGCTACTGCCGGCCCAACTTCTCTGGGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGG
Celera SNP ID:            hCV25921648
SNP Position Transcript:  1364
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,3)   caucasian(C,40)   total(C,67|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 433, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:11998):
CCGCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGCAACGTCTACTC
Y
GGCTTCGGCTTCCACAGCGCCCAGGACAGTGCCCTGCTCTACTACCGGGCGTCCCCGGATGGGCTATGCCAGGTGTCCCTGCAGCAGGGCCGTGTGAGCC
Celera SNP ID:            hCV25761714
SNP Position Transcript:  9512
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24)   total(C,59|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 3149, (S,TCC)   (S,TCT)   



Context             (SEQ ID NO:11999):
GGTTCTGGGGACTGAGCCCCAGCAACCCCGAGGGCTGTACCCGCTGCAGCTGCGACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCAC
Y
GGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTGCAAGGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCA
Celera SNP ID:            hCV25629450
SNP Position Transcript:  2447
SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,40)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 794, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:12000):
GACCTCAGGGGCACACTGGGTGGAGTTGCTGAGTGCCAGCCGGGCACCGGCCAGTGCTTCTGCAAGCCCCACGTGTGCGGCCAGGCCTGCGCGTCCTGCA
M
GGATGGCTTCTTTGGACTGGATCAGGCTGACTATTTTGGCTGCCGCAGCTGCCGGTGTGACATTGGCGGTGCACTGGGCCAGAGCTGTGAACCGAGGACG
Celera SNP ID:            hCV25629451
SNP Position Transcript:  2500
SNP Source:               Applera
Population(Allele,Count): african american(A,38)   caucasian(A,38|C,2)   total(A,76|C,2)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 812, (K,AAG)   (T,ACG)   



Context             (SEQ ID NO:12001):
AGTGCCTCTGCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATG
Y
GACTGCAGCGGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCT
Celera SNP ID:            hCV22273674
SNP Position Transcript:  5972
SNP Source:               Applera
Population(Allele,Count): african american(C,22|T,4)   caucasian(C,30)   total(C,52|T,4)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1969, (C,TGC)   (C,TGT)   



Context             (SEQ ID NO:12002):
TGCACCCGGTGCGACTGTACCCCATGTGGGACAGAGGCCTGCGACCCCCACAGCGGGCACTGCCTGTGCAAGGCGGGCGTGACTGGGCGGCGCTGTGACC
R
CTGCCAGGAGGGACATTTTGGTTTCGATGGCTGCGGGGGCTGCCGCCCGTGTGCTTGTGGACCGGCCGCCGAGGGCTCCGAGTGCCACCCCCAGAGCGGA
Celera SNP ID:            hCV27471296
SNP Position Transcript:  6223
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 2053, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:12003):
TTTGTCACCAATCATCACTGGTTCCTCCTTAAAAATTAAAAAGTAACTTCTGTGTAACCGAATGAATGTTGACTTAAATACGGAGAGAGTCTCAAGACAG
R
TCTGGAACCGGCCTGGACAGAGGCACCAAACTCTTCCTGGGGTGACCGTTTTCCGTTGTTAGGTCAAATAACTAACTGTCTCTGGGACCCTACAGCAGCT
Celera SNP ID:            hCV1763935
SNP Position Transcript:  11453
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|G,9)      total(G,9|A,1) ;no_pop(G,-|A,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1384, None   



Context             (SEQ ID NO:12004):
AGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATCACATTCCTGGAGCCGGCATACCCCACGCCTGGCCAC
R
TTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGACTCGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCT
Celera SNP ID:            hCV1763952
SNP Position Transcript:  5334
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,30)   caucasian(A,1|G,35)   total(A,3|G,65)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1757, (I,ATT)   (V,GTT)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,4|G,7)   total(G,7|A,4) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1757, (I,ATT)   (V,GTT)      



Context             (SEQ ID NO:12005):
GGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCTCCGTTATGAACTG
Y
ACTCAGAGACCCAGCGGGGAGATGTCTTTGTCCCCATGGAGAGCAGGCCGGATGTGGTGCTGCAGGGCAACCAGATGAGCATCACATTCCTGGAGCCGGC
Celera SNP ID:            hCV25629472
SNP Position Transcript:  5214
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,36|T,2)   total(C,67|T,5)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1717, (H,CAC)   (Y,TAC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,3)   caucasian(C,36|T,2)   total(C,71|T,5)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1717, (H,CAC)   (Y,TAC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,7)      total(C,7|T,1) ;no_pop(T,-|C,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1717, (H,CAC)   (Y,TAC)      



Context             (SEQ ID NO:12006):
GGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAGCGGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTG
Y
GGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTACCTGGGGGACCGGGTGTCATCCTACGGTGGGACCCT
Celera SNP ID:            hCV1763954
SNP Position Transcript:  5100
SNP Source:               Celera
Population(Allele,Count): no_pop(T,2|C,5)   total(C,5|T,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1679, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:12007):
GTACAGCACCCTGTGCCGGGGCACTGCCCGGGATACCCAGGACCACCTGGCTGTCTTCCACCTGGACTCGGAGGCCAGCGTGAGGCTCACAGCCGAGCAG
K
CACGCTTCTTCCTGCACGGGGTCACTCTGGTGCCCATTGAGGAGTTCAGCCCGGAGTTCGTGGAGCCCCGGGTCAGCTGCATCAGCAGCCACGGCGCCTT
Celera SNP ID:            hCV25629457
SNP Position Transcript:  3603
SNP Source:               Applera
Population(Allele,Count): african american(G,11|T,1)   caucasian(G,28)   total(G,39|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1180, (A,GCA)   (S,TCA)   



Context             (SEQ ID NO:12008):
GCTTCCCCAACTGCAGGCCCTGTGACTGCGGTGCCCGCCTCTGTGACGAGCTCACGGGCCAGTGCATCTGCCCGCCACGCACCATCCCGCCCGACTGCCT
R
CTGTGCCAGCCCCAGACCTTTGGCTGCCACCCCCTGGTCGGCTGTGAGGAGTGTAACTGCTCAGGGCCCGGCATCCAGGAGCTCACAGACCCTACCTGTG
Celera SNP ID:            hCV1763956
SNP Position Transcript:  4595
SNP Source:               Applera
Population(Allele,Count): african american(A,13|G,23)   caucasian(A,14|G,22)   total(A,27|G,45)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1510, (L,CTA)   (L,CTG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,7)      total(G,3|A,7) ;no_pop(G,-|A,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1510, (L,CTA)   (L,CTG)      



Context             (SEQ ID NO:12009):
AGATGAGCATCACATTCCTGGAGCCGGCATACCCCACGCCTGGCCACGTTCACCGTGGGCAGCTGCAGCTGGTGGAGGGGAACTTCCGGCATACGGAGAC
K
CGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCTCCC
Celera SNP ID:            hCV25629475
SNP Position Transcript:  5387
SNP Source:               Applera
Population(Allele,Count): african american(G,3|T,33)   caucasian(T,38)   total(G,3|T,71)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1774, (T,ACG)   (T,ACT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1774, (T,ACG)   (T,ACT)      



Context             (SEQ ID NO:12010):
CCATCCGGGGCCAGTACTGTGACATCTGCACGGCTGCCAACAGCAACAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAG
Y
CCACCGCTGTCCCGCGGCCTGGAGTACAACGAGGTCAACGTCACCCTGGACCTGGGCCAGGTCTTCCACGTGGCCTACGTCCTCATCAAGTTTGCCAACT
Celera SNP ID:            hCV25629459
SNP Position Transcript:  455
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(T,40)   total(C,3|T,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 130, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:12011):
ACTCGCAACACTGTGTCCCGCGAGGAGCTCATGATGGTGCTGGCCAGCCTGGAGCAGCTGCAGATCCGTGCCCTCTTCTCACAGATCTCCTCGGCTGTCT
Y
CCTGCGCAGGGTGGCACTGGAGGTGGCCAGCCCAGCAGGCCAGGGGGCCCTGGCCAGCAATGTGGAGCTGTGCCTGTGCCCCGCCAGCTACCGGGGGGAC
Celera SNP ID:            hCV25629476
SNP Position Transcript:  5485
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,6)   caucasian(C,36)   total(C,68|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1807, (S,TCC)   (F,TTC)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1807, (S,TCC)   (F,TTC)      



Context             (SEQ ID NO:12012):
GGCCACGGTGTACAGCGTGGAGCAGGACAATGATCTGGAGCTGGCCGACGCCTACTACCTGGGGGGCGTGCCGCCCGACCAGCTGCCCCCGAGCCTGCGA
Y
GGCTCTTCCCCACCGGAGGCTCAGTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAG
Celera SNP ID:            hCV25629492
SNP Position Transcript:  9300
SNP Source:               Applera
Population(Allele,Count): african american(C,16|T,16)   caucasian(C,14|T,16)   total(C,30|T,32)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 3079, (R,CGG)   (W,TGG)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|C,4)      total(C,4|T,1) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 3079, (R,CGG)   (W,TGG)      3079, (W,TGG)   (R,CGG)      



Context             (SEQ ID NO:12013):
CCGGAGGCTCAGTCCGTGGCTGCGTCAAAGGCATCAAGGCCCTGGGCAAGTATGTGGACCTCAAGCGGCTGAACACGACAGGCGTGAGCGCCGGCTGCAC
Y
GCCGACCTGCTGGTGGGGCGCGCCATGACTTTCCATGGCCACGGCTTCCTTCGCCTGGCGCTCTCGAACGTGGCACCGCTCACTGGCAACGTCTACTCCG
Celera SNP ID:            hCV25629493
SNP Position Transcript:  9413
SNP Source:               Applera
Population(Allele,Count): african american(C,36)   caucasian(C,38|T,2)   total(C,74|T,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 3116, (T,ACC)   (T,ACT)   



Context             (SEQ ID NO:12014):
TTCACTTCCCTCTCTGCCAGTTGTGTGGCTGCAGCCCTGCAGGAACCTTGCCCGAGGGCTGCGATGAGGCCGGCCGCTGCCTATGCCAGCCTGAGTTTGC
Y
GGACCTCATTGTGACCGGTGCCGCCCTGGCTACCATGGTTTCCCCAACTGCCAAGCATGCACCTGCGACCCTCGGGGAGCCCTGGACCAGCTCTGTGGGG
Celera SNP ID:            hCV22274695
SNP Position Transcript:  1901
SNP Source:               Applera
Population(Allele,Count): african american(C,8|T,10)   caucasian(T,2)   total(C,8|T,12)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 612, (A,GCC)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(T,-|C,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 612, (A,GCC)   (A,GCT)      



Context             (SEQ ID NO:12015):
TGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGGCCGCACCCAGTGCCTCTGCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGC
R
CCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAGCGGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACC
Celera SNP ID:            hCV25629478
SNP Position Transcript:  5921
SNP Source:               Applera
Population(Allele,Count): african american(G,38)   caucasian(A,1|G,39)   total(A,1|G,77)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1952, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:12016):
GCAAACCTGGTTATGCAGGTGCCTCCTGCGAGCGGTGTGCGCCCGGATTCTTTGGGAACCCACTGGTGCTGGGCAGCTCCTGCCAGCCATGCGACTGCAG
Y
GGCAACGGTGACCCCAACTTGCTCTTCAGCGACTGCGACCCCCTGACGGGCGCCTGCCGTGGCTGCCTGCGCCACACCACTGGGCCCCGCTGCGAGATCT
Celera SNP ID:            hCV25629479
SNP Position Transcript:  5981
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 1972, (S,AGC)   (S,AGT)   



Context             (SEQ ID NO:12017):
TGCAAGCCCAGACCCCGGGCCTGGGGCCTAGAGGACTGCAGGCCTCCCGCCGCAGCCGTCAGCCCGCCCGGCATCCTGCCTGCATGCTGCCCCCACACCT
S
AGGACCACCCGAGACTCCTACCAGTTTGGGGGTTCCCTGTCCAGTCACCTGGAGTTTGTGGGCATCCTGGCCCGACATAGGAACTGGCCCAGTCTCTCCA
Celera SNP ID:            hCV25629496
SNP Position Transcript:  10052
SNP Source:               Applera
Population(Allele,Count): african american(C,34|G,2)   caucasian(C,16)   total(C,50|G,2)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 3329, (L,CTC)   (L,CTG)   



Context             (SEQ ID NO:12018):
CGCGCGGCTCCCCGCGCCCCACCGAGGACCTTTACTGCAAGCTGGTAGGGGGCCCCGTGGCCGGCGGCGACCCCAACCAGACCATCCGGGGCCAGTACTG
Y
GACATCTGCACGGCTGCCAACAGCAACAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAGTCCACCGCTGTCCCGCGGCC
Celera SNP ID:            hCV1763994
SNP Position Transcript:  374
SNP Source:               Applera
Population(Allele,Count): african american(C,28|T,8)   caucasian(C,26|T,10)   total(C,54|T,18)
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 103, (C,TGC)   (C,TGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,2|C,3)      total(C,3|T,2) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 NONSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 103, (C,TGC)   (C,TGT)      103, (C,TGT)   (C,TGC)      



Context             (SEQ ID NO:12019):
CACGGAGCGCTGCCGGAGCTCGTCCTACACCCGCCAGGAGTTCGTGGATATGGAGGGATGGGTGCTGCTGAGCACTGACCGGCAGGTGGTGCCCCACGAG
Y
GGCAGCCAGGGACGGAGATGCTCCGTGCAGACCTGCGGCACGTGCCTGAGGCTGTGCCCGAGGCTTTCCCCGAGCTGTACTGGCAGGCCCCACCCTCCTA
Celera SNP ID:            hCV27164169
SNP Position Transcript:  5064
SNP Source:               Celera
Population(Allele,Count): no_pop(T,3|C,3)   total(C,3|T,3) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1667, (R,CGG)   (W,TGG)      



Context             (SEQ ID NO:12020):
GCCGCACCTACCAGCCCTGGCAGTTCTTTGCCTCCTCCAAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGC
R
GCCATCTGCACCACCGAGTACTCACGCATCGTGCCCCTGGAGAACGGAGAGATCGTGGTGTCCCTGGTGAACGGACGTCCGGGCGCCATGAATTTCTCCT
Celera SNP ID:            hCV9572589
SNP Position Transcript:  701
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1384, 212, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:12021):
CCATGGACACTCAGACCGCTGCCTCCCTGGCTCTGGCGTCTGTGTGGACTGCCAGCACAACACCGAAGGGGCCCACTGTGAGCGCTGCCAGGCTGGCTTC
R
TGAGCAGCAGGGACGACCCCAGCACCCCCTGTGTCAGCTGCCCCTGCCCCCTCTCAGTGCCTTCCAACAACTTCGCCGAGGGCTGTGTCCTGCGAGGCGG
Celera SNP ID:            hCV16232608
SNP Position Transcript:  5763
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1384, 1900, (M,ATG)   (V,GTG)      



Gene Number:                 265
Celera Gene:                 hCG42018 - 103000085248502
Celera Transcript:           hCT33294 - 103000085248503
Public Transcript Accession: NM_001040
Celera Protein:              hCP51805 - 197000069434301
Public Protein Accession:    NP_001031
Gene Symbol:                 SHBG
Protein Name:                sex hormone-binding globulin;ABP
Celera Genomic Axis:         GA_x5YUV32W2JD(7888431..7893751)
Chromosome:                  Chr17
OMIM number:                 182205
OMIM Information:            SEX HORMONE-BINDING GLOBULIN;SHBG


Transcript Sequence (SEQ ID NO:688):
CCGCGGTTCAAAGGCTCCCCCGCAGTGCTTTTTAAATTGACATATGCAGTGATAACCTGCTTTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGTATG
GAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCRCCAGGGATGGGCCCTGAGACCTGTTCTCC
CCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAA
AACCTCCTCCTCCTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACTTCGA
GACGGCAGGCCTGAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAAGTCA
AGATGGAGGGGGACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCAT
GAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCYGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGAC
AAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCAGAAT
TCAATCTCCGAGACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCT
TGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCYTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTC
TTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGRGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTC
CCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAARACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGC
ACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCC
CATTAAAGCTCCACCTAAGAACCCCCTTT

Protein Sequence    (SEQ ID NO:1385):
MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGL
RDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWL
DKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPL
VLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDA
SH


SNP Information

Context             (SEQ ID NO:12022):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:            hCV11955740
SNP Position Transcript:  964
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1385, 289, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:12023):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:            hCV11955741
SNP Position Transcript:  651
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1385, 185, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:12024):
GGCTCACTCACCCGCCCAGACCCTGGTATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCC
R
CCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTC
Celera SNP ID:            hCV11955744
SNP Position Transcript:  171
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,4|G,73)      total(G,73|A,4) ;WIAF-CSNP-P(1(A,9|G,77)   total(G,77|A,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1385, 25, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:12025):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:            hCV12123721
SNP Position Transcript:  1329
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|-,8)   total(-,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1385, None   



Context             (SEQ ID NO:12026):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:            hCV25629289
SNP Position Transcript:  1039
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1385, 314, (R,AGA)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1385, 314, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:12027):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:            hCV11955739
SNP Position Transcript:  1163
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,2|G,34)   total(A,2|G,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1385, 356, (N,AAC)   (D,GAC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1385, 356, (N,AAC)   (D,GAC)      



Gene Number:                 265
Celera Gene:                 hCG42018 - 103000085248502
Celera Transcript:           hCT2269162 - 103000085248528
Public Transcript Accession: NM_001040
Celera Protein:              hCP1891039 - 197000069434303
Public Protein Accession:    NP_001031
Gene Symbol:                 SHBG
Protein Name:                sex hormone-binding globulin;ABP
Celera Genomic Axis:         GA_x5YUV32W2JD(7888431..7893751)
Chromosome:                  Chr17
OMIM number:                 182205
OMIM Information:            SEX HORMONE-BINDING GLOBULIN;SHBG


Transcript Sequence (SEQ ID NO:689):
CCGCGGTTCAAAGGCTCCCCCGCAGTGCTTTTTAAATTGACATATGCAGTGATAACCTGCTTTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGAGTG
CCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAAAACCTCCTCCTC
CTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACTTCGAGACGGCAGGCCT
GAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAAGTCAAGATGGAGGGGG
ACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCT
TGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCYGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAG
ATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCAGAATTCAATCTCCGAG
ACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGA
GAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCYTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCT
CTTCAGCTGAAGCTGAGTATGTCCAGRGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACC
TCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAARACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAG
GCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCC
ACCTAAGAACCCCCTTT

Protein Sequence    (SEQ ID NO:1386):
MTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSG
PLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQ
AAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSS
TSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDASH


SNP Information

Context             (SEQ ID NO:12028):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:            hCV11955740
SNP Position Transcript:  852
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1386, 231, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:12029):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:            hCV11955741
SNP Position Transcript:  539
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1386, 127, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:12030):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:            hCV12123721
SNP Position Transcript:  1217
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|-,8)   total(-,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1386, None   



Context             (SEQ ID NO:12031):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:            hCV25629289
SNP Position Transcript:  927
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1386, 256, (R,AGA)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1386, 256, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:12032):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:            hCV11955739
SNP Position Transcript:  1051
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,2|G,34)   total(A,2|G,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1386, 298, (N,AAC)   (D,GAC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1386, 298, (N,AAC)   (D,GAC)      



Gene Number:                 265
Celera Gene:                 hCG42018 - 103000085248502
Celera Transcript:           hCT2269161 - 103000085248516
Public Transcript Accession: NM_001040
Celera Protein:              hCP1891038 - 197000069434302
Public Protein Accession:    NP_001031
Gene Symbol:                 SHBG
Protein Name:                sex hormone-binding globulin;ABP
Celera Genomic Axis:         GA_x5YUV32W2JD(7888431..7891635)
Chromosome:                  Chr17
OMIM number:                 182205
OMIM Information:            SEX HORMONE-BINDING GLOBULIN;SHBG


Transcript Sequence (SEQ ID NO:690):
TATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCRCCAGGGATGGGCCCTGAGACCTGTT
CTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCA
CAAAAACCTCCTCCTCCTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACT
TCGAGACGGCAGGCCTGAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAA
GTCAAGATGGAGGGGGACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCA
TCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCYGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCT
GGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCA
GAATTCAATCTCCGAGACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTG
CTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCYTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCT
GGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGRGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTG
GCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAARACTCTTCCACCTCTTTTTGCCTGAATGGCCTTT
GGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGC
TTCCCATTAAAGCTCCACCTAAGAACCCCCTTT

Protein Sequence    (SEQ ID NO:1387):
MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGL
RDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWL
DKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPL
VLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDA
SH


SNP Information

Context             (SEQ ID NO:12033):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:            hCV11955740
SNP Position Transcript:  868
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1387, 289, (S,TCC)   (S,TCT)      



Context             (SEQ ID NO:12034):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:            hCV11955741
SNP Position Transcript:  555
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1387, 185, (P,CCG)   (L,CTG)      



Context             (SEQ ID NO:12035):
TATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCC
R
CCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTC
Celera SNP ID:            hCV11955744
SNP Position Transcript:  75
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): Samples from 30 Europeans, 14 Asians, 10 African-Americans, 7 African Pygmies(A,4|G,73)      total(G,73|A,4) ;WIAF-CSNP-P(1(A,9|G,77)   total(G,77|A,9)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1387, 25, (H,CAC)   (R,CGC)      



Context             (SEQ ID NO:12036):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:            hCV12123721
SNP Position Transcript:  1233
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|-,8)   total(-,8|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1387, None   



Context             (SEQ ID NO:12037):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:            hCV25629289
SNP Position Transcript:  943
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,40)   total(A,1|G,75)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1387, 314, (R,AGA)   (R,AGG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1387, 314, (R,AGA)   (R,AGG)      



Context             (SEQ ID NO:12038):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:            hCV11955739
SNP Position Transcript:  1067
SNP Source:               Applera
Population(Allele,Count): african american(G,22)   caucasian(A,2|G,34)   total(A,2|G,56)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1387, 356, (N,AAC)   (D,GAC)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1387, 356, (N,AAC)   (D,GAC)      



Gene Number:                 266
Celera Gene:                 hCG42423 - 104000116702204
Celera Transcript:           hCT33700 - 104000116702228
Public Transcript Accession: NM_005108
Celera Protein:              hCP51890 - 197000064935037
Public Protein Accession:    NP_005099
Gene Symbol:                 XYLB
Protein Name:                xylulokinase homolog (H. influenzae);FLJ10343;FLJ12539;FLJ22075
Celera Genomic Axis:         GA_x5YUV32VV34(38323872..38378658)
Chromosome:                  Chr3
OMIM number:                 604049
OMIM Information:            XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF;XYLB


Transcript Sequence (SEQ ID NO:691):
CAGTCCGGCCGGGCGGAGCTAGGGGCGGGCCCCTGCGTCTCTGGGCGCTGGAGCGCGGCGACTATCACGCCGCGTGGCGGACGGACGGACTGACGGACGC
GCAGCCTTACCCGAAAGGCCATGGCGGAGCACGCCCCTCGCCGCTGCTGCCTGGGCTGGGACTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGC
AGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGGYATGTACTTGATGTGCATGTGGYGGTGTTCATGTGCACA
AGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGAMTTCTCTCAAGT
CCTAGCCTTGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACAC
CAGCAGCTKCAGGACTGTTTCTCCATCAGCRACTGCCCGGTGTGGATGGAMTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTG
CTCAGGCTCTCMGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACA
TACRGAYAGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTG
CAGATACAGGATAAAGTCTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCAGTTGTGG
GAGCCATTTCTTCCTACWACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAGGCATGAG
ACTGGAGGAAGGTGACATTGCGGTCAGCCTGGGCACCAGTGACACCCTGTTTCTCTGGCTCCAAGAGCCCATGCCTGCCCTGGAAGGCCACATCTTCTGC
AACCCGGTTGACTCCCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGCRACGAGTCTGTATCCCGTTCCTGGA
GCGATTTCTCTAAGGCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGAGATCACCCCTGAAATTATTGGACG
TCATAGGTTTAACACAGAAAACCACAAGGTTGCAGCATTCCCTGGGGATGTGGAGGTTCGAGCACTAATTGAAGGACAATTCATGGCCAAGAGGATTCAC
GCAGAAGGCCTGGGCTATCGAGTCATGTCCAAGACAAAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGT
TTGATGCCCCGGTGTATGTTATAGACACTGCCAACTYSGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATRTGCCCTT
TTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCRGAATTTGTTTGTARCATTT
GCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAAATTCTGCTTTATTGAAATT
ATCAAGAAAATGGAGCTAAAGGGCCATGTTGTCAGCTGCAAGTCACAGATACTGCTGATTTTACAGCCAGGGTCAGATGGATTGCTGGGCATATTTGTAT
TGCTTCTTATGCCTCACGGTGGGCCCTTCCATGTCACTGGGCTATAAAAGCTACTGAAAGGATCCATC

Protein Sequence    (SEQ ID NO:1388):
MWVQALDIILEKMKASGFEFSQVLALSGAGQQHGSIYWKAGAQQALTSLSPDLRLHQQLQDCFSISDCPVWMDSSTTAQCRQLEAAVGGAQALSCLTGSR
AYERFTGNQIAKIYQQNPEAYSHTERISLVSSFAASLFLGSYSPIDYSDGSGMNLLQIQDKVWSQACLGACAPHLEEKLSPPVPSCSVVGAISSYYVQRY
GFPPGCKVVAFTGDNPASLAGMRLEEGDIAVSLGTSDTLFLWLQEPMPALEGHIFCNPVDSQHYMALLCFKNGSLMREKIRNESVSRSWSDFSKALQSTE
MGNGGNLGFYFDVMEITPEIIGRHRFNTENHKVAAFPGDVEVRALIEGQFMAKRIHAEGLGYRVMSKTKILATGGASHNREILQVLADVFDAPVYVIDTA
NSACVGSAYRAFHGLAGGTDVPFSEVVKLAPNPRLAATPSPGASQVRDHQNLFVAFAL


SNP Information

Context             (SEQ ID NO:12039):
GGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATC
R
GAATTTGTTTGTAGCATTTGCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAA
Celera SNP ID:            hCV3083938
SNP Position Transcript:  1681
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;no_pop(A,-|G,-)   JBIC-allele(A,447|G,804)   total(G,804|A,447)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 450, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:12040):
CTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGG
Y
ATGTACTTGATGTGCATGTGGCGGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTG
Celera SNP ID:            hCV16242345
SNP Position Transcript:  262
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_A(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_AA(C,0|T,84)   total(T,252) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1388, None   



Context             (SEQ ID NO:12041):
CTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGA
Y
AGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGATAC
Celera SNP ID:            hCV904492
SNP Position Transcript:  707
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   TSC_42_T(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_TT(C,0|T,84)   total(T,252)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1388, None   



Context             (SEQ ID NO:12042):
GGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTC
M
GCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGAGAGAAT
Celera SNP ID:            hCV15949274
SNP Position Transcript:  612
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 94, (S,AGC)   (R,CGC)      



Context             (SEQ ID NO:12043):
CGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGC
R
ACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCG
Celera SNP ID:            hCV15949275
SNP Position Transcript:  531
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 67, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12044):
TTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGA
M
TTCTCTCAAGTCCTAGCCTTGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACC
Celera SNP ID:            hCV904489
SNP Position Transcript:  389
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(C,-|A,-)   JBIC-allele(A,270|C,1019)   total(A,270|C,1019)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 19, (E,GAA)   (D,GAC)      19, (D,GAC)   (E,GAA)      



Context             (SEQ ID NO:12045):
TGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCT
K
CAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTC
Celera SNP ID:            hCV8823907
SNP Position Transcript:  509
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1388, 59, (L,CTG)   (L,CTT)      59, (L,CTT)   (L,CTG)      



Context             (SEQ ID NO:12046):
GTTGTTGCTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGGTATGTACTTGATGTGCATGTGG
Y
GGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCT
Celera SNP ID:            hCV8823952
SNP Position Transcript:  284
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1388, None   



Context             (SEQ ID NO:12047):
CTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCAGTTGTGGGAGCCATTTCTTCCTAC
W
ACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAGGCATGAGACTGGAGGAAGGTGACAT
Celera SNP ID:            hCV904508
SNP Position Transcript:  918
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 196, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:12048):
AAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACT
Y
GGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTA
Celera SNP ID:            hCV15949330
SNP Position Transcript:  1537
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 402, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:12049):
AGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATAC
R
GAGAGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGA
Celera SNP ID:            hCV8823894
SNP Position Transcript:  704
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,9)      total(G,3|A,9) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1388, 124, (T,ACA)   (T,ACG)      124, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:12050):
AGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTC
S
GCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAG
Celera SNP ID:            hCV11928480
SNP Position Transcript:  1538
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;Caucasian, from CEPH families, part 1 - WICGR(G,170)   no_pop(C,-|G,-)   total(G,170)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1388, 402, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:12051):
GCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCAGAATTTGTTTGTA
R
CATTTGCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAAATTCTGCTTTATTG
Celera SNP ID:            hCV15949414
SNP Position Transcript:  1695
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 455, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:12052):
TGCCCTGGAAGGCCACATCTTCTGCAACCCGGTTGACTCCCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGC
R
ACGAGTCTGTATCCCGTTCCTGGAGCGATTTCTCTAAGGCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGA
Celera SNP ID:            hCV15949343
SNP Position Transcript:  1176
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 282, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12053):
AGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTCGGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGAT
R
TGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCAGAATTTGTTTGT
Celera SNP ID:            hCV15949319
SNP Position Transcript:  1593
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 421, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:12054):
CTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGA
M
TCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAG
Celera SNP ID:            hCV904490
SNP Position Transcript:  551
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1388, 73, (E,GAA)   (D,GAC)      73, (D,GAC)   (E,GAA)      



Gene Number:                 266
Celera Gene:                 hCG42423 - 104000116702204
Celera Transcript:           hCT2278370 - 104000116702205
Public Transcript Accession: NM_005108
Celera Protein:              hCP1802395 - 197000064935036
Public Protein Accession:    NP_005099
Gene Symbol:                 XYLB
Protein Name:                xylulokinase homolog (H. influenzae);FLJ10343;FLJ12539;FLJ22075
Celera Genomic Axis:         GA_x5YUV32VV34(38323872..38392347)
Chromosome:                  Chr3
OMIM number:                 604049
OMIM Information:            XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF;XYLB


Transcript Sequence (SEQ ID NO:692):
CAGTCCGGCCGGGCGGAGCTAGGGGCGGGCCCCTGCGTCTCTGGGCGCTGGAGCGCGGCGACTATCACGCCGCGTGGCGGACGGACGGACTGACGGACGC
GCAGCCTTACCCGAAAGGCCATGGCGGAGCACGCCCCTCGCCGCTGCTGCCTGGGCTGGGACTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGC
AGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGYGACTCAGGGYGGTGTTCATGTGCACAAGGATGGGCTGACG
GTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGAMTTCTCTCAAGTCCTAGCCTTGTCCG
GGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTKCAGGA
CTGTTTCTCCATCAGCRACTGCCCGGTGTGGATGGAMTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCMGC
TGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACRGAYAGAATTT
CTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGATACAGGATAA
AGTCTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCAGTTGTGGGAGCCATTTCTTCC
TACWACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAGGCATGAGACTGGAGGAAGGTG
ACATTGCGGTCAGCCTGGGCACCAGTGACACCCTGTTTCTCTGGCTCCAAGAGCCCATGCCTGCCCTGGAAGGCCACATCTTCTGCAACCCGGTTGACTC
CCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGCRACGAGTCTGTATCCCGTTCCTGGAGCGATTTCTCTAAG
GCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGAGATCACCCCTGAAATTATTGGACGTCATAGGTTTAACA
CAGAAAACCACAAGGTTGCAGCATTCCCTGGGGATGTGGAGGTTCGAGCACTAATTGAAGGACAATTCATGGCCAAGAGGATTCACGCAGAAGGCCTGGG
CTATCGAGTCATGTCCAAGACAAAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTG
TATGTTATAGACACTGCCAACTYSGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATRTGCCCTTTTCAGAGGTTGTGA
AGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTCTACGAGGCCCTTCTCCCCCAGTATGCCAAACTCGAGCAGAGAAT
CTTGTCTCAGACCCGGGGGCCTCCGGAGTGAACAGGCATCCCTGTTGCCCCTGCCTGCCCAGATTTACTGACCCCATTTGTCGACATGGCCCCAGACAGG
AGGGATCCACTTCTCTGTTCTGAACAGCTCTTCCTGCCCCTACTGACTCCTTGGAGTGTCCAGGACCATCTTAAAGCCGCCCTCAGCACATCTGCATGAA
GATAGATAGGCACTCCTGTCCCTGTGCCCGTGTGCCCCAGGGCAGGAAAGCATCTCTCTTTTCCTGTCTTTTATCCCAGGAGGCAGGACAACACTGAGAC
TGGGATATGTCCAATAAAAACTATGACTTTTCCCCTTGCAGAGGCAGAATTAAAGCTAATCTAGGGACTCAAATCAGCAGAATGGGGGAGACAAAGCCCG
GTCTCACCCCCTAACCTCATCCTATCTCTTTCTCCAACCCTGACTGCCCACTCCTCCRCAAACCGTGACCCATAGCCGCCCCCACCCCATACCTTGATCT
ACCATCCATCCTCTTCCCCAATCCAAACCCCACAGTCTCTTCTCTCCCACACCCTGCCCTCCTTGTTTCAGCTGTCTGAGGTGCCTCGCAGGGCCTCTCT
TACTTGCCCCATGCTCACCCTTTCCATGCTGTCCCCATTCTCTCCTTTCACCATCTCTCCTCTCCCCCTCCTTCATCTCTCCTCCCTCCCCAAACTCACT
TGGCATAATTCACAACCTCCCACCCAAACAATGGGCCTGGTGGACGTGCTTCCTGTGCCCTCCCTTTAGCTATGCCCACAGATCACTGAGAGGGACCATC
TCCCAAGTGGTGCAGTTTAGAACTTCTCTCCCTTTTTCTCCCTCATTCCCTCTCTCTTCTTGCAGTCCACTTGCTGAAGAAGTTGTGTCATTTCTCTGGA
AGAATTTCCAAAATTCTGGATTTCTTTTTTATTTTGGAGTATTTCATCAGCTGAAAAGTGATTCTYACTTTGAGTTTTCTTCCTATATTTGTATAGTGAG
TTCCTTTTTCCTTCCTCTTTATCCCTCCTGTTTTACTTTATACCTCTCTATTCCTTGCTCAAATTATTGCAAAAGCCTCTATAGAAAGTCCTCTGTGATC
TGACTCCTGCAGACTCTTCCAGATTTTTCTGCCCAAGGCCTTTACTGAGCTCAGGACTCCAGCTAAATCAAAATACKCATGTTCTCACCCAGAGTGACAA
AATCCTGCAGATAGGTTTAAGACCTAGTGGMTCAGAGCAGTAGCTACTGGGAAGTTAAAAGGAAGGGGCTTAGAAAATGAATGGGACCAAAGGCATCACT
TCTGATGGAGATGAAGCCATCTTGAAAGTGAGTGGTGTCCTTTGGAGGCATGGTGGATGAAAGGCGCAAAGGAAGCAAGAGGTTAAAGATAATGGCCCAT
TAGATACAACAGCAAGCCCAAGATTCCRAAGAAGACAGACAACTCCCCCTAGTACCACCTAGACATTACTTTTTAAAGACATTTTACATTATTGTCCAGC
AGAAAAAGGCTGTCTTGGACCATGAAACAGTAAACTGTAACTAAACACTTCAACATGAATTTGAAAATAAATAATTGTGGATATAAAAGAACACCAGAGA
TCAGAAATTCAAAAACTCAGAATAAAAATGAAAAAGCTACAAGCATATATGAGAAGAGAACTGACTGAACTTGGGAAATAATTTGAACAAAAAGATAAAT
CTTCACAGATATGAATACTAAATTATATCTTAATGAAAATAGATATGGTCACAAGTACATTAAGGCACGTAGAAGGTAGGAGTAAGAAAAGCTAAGAGAA
GCAAAACAAACAAAGCAATATTAAAGGAAGAGCCAAAAAGACCCAGAAATAAAATGACAGATAAAGAAGATTGTCAAAGAAAAGATGATACAGGTAAGAT
TGGAACTCATGAAGACAAAAGATAAGACAGTGGCATAGAGTTAATATTTAAAATTCAAATATTAAAACTCAAATAAACCCCAAAGAACTTTTGG

Protein Sequence    (SEQ ID NO:1389):
MAEHAPRRCCLGWDFSTQQVKVVAVDAELNVFYEESVHFDRDLPEFGTQGGVHVHKDGLTVTSPVLMWVQALDIILEKMKASGFEFSQVLALSGAGQQHG
SIYWKAGAQQALTSLSPDLRLHQQLQDCFSISDCPVWMDSSTTAQCRQLEAAVGGAQALSCLTGSRAYERFTGNQIAKIYQQNPEAYSHTERISLVSSFA
ASLFLGSYSPIDYSDGSGMNLLQIQDKVWSQACLGACAPHLEEKLSPPVPSCSVVGAISSYYVQRYGFPPGCKVVAFTGDNPASLAGMRLEEGDIAVSLG
TSDTLFLWLQEPMPALEGHIFCNPVDSQHYMALLCFKNGSLMREKIRNESVSRSWSDFSKALQSTEMGNGGNLGFYFDVMEITPEIIGRHRFNTENHKVA
AFPGDVEVRALIEGQFMAKRIHAEGLGYRVMSKTKILATGGASHNREILQVLADVFDAPVYVIDTANSACVGSAYRAFHGLAGGTDVPFSEVVKLAPNPR
LAATPSPGASQVYEALLPQYAKLEQRILSQTRGPPE


SNP Information

Context             (SEQ ID NO:12055):
TCCACTTGCTGAAGAAGTTGTGTCATTTCTCTGGAAGAATTTCCAAAATTCTGGATTTCTTTTTTATTTTGGAGTATTTCATCAGCTGAAAAGTGATTCT
Y
ACTTTGAGTTTTCTTCCTATATTTGTATAGTGAGTTCCTTTTTCCTTCCTCTTTATCCCTCCTGTTTTACTTTATACCTCTCTATTCCTTGCTCAAATTA
Celera SNP ID:            hCV1845318
SNP Position Transcript:  2666
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,5|T,7)      total(C,5|T,7) ;no_pop(C,-|T,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12056):
GACTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTG
Y
GACTCAGGGCGGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAG
Celera SNP ID:            hCV16242345
SNP Position Transcript:  260
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_A(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_AA(C,0|T,84)   total(T,252) 
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12057):
CTCTATAGAAAGTCCTCTGTGATCTGACTCCTGCAGACTCTTCCAGATTTTTCTGCCCAAGGCCTTTACTGAGCTCAGGACTCCAGCTAAATCAAAATAC
K
CATGTTCTCACCCAGAGTGACAAAATCCTGCAGATAGGTTTAAGACCTAGTGGATCAGAGCAGTAGCTACTGGGAAGTTAAAAGGAAGGGGCTTAGAAAA
Celera SNP ID:            hCV1845319
SNP Position Transcript:  2877
SNP Source:               Celera
Population(Allele,Count): no_pop(G,2|T,9)   total(G,2|T,9) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12058):
CTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGA
Y
AGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGATAC
Celera SNP ID:            hCV904492
SNP Position Transcript:  693
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   TSC_42_T(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_TT(C,0|T,84)   total(T,252)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12059):
GGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTC
M
GCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGAGAGAAT
Celera SNP ID:            hCV15949274
SNP Position Transcript:  598
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 160, (S,AGC)   (R,CGC)      



Context             (SEQ ID NO:12060):
CGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGC
R
ACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCG
Celera SNP ID:            hCV15949275
SNP Position Transcript:  517
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 133, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12061):
TTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGA
M
TTCTCTCAAGTCCTAGCCTTGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACC
Celera SNP ID:            hCV904489
SNP Position Transcript:  375
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(C,-|A,-)   JBIC-allele(A,270|C,1019)   total(A,270|C,1019)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 85, (E,GAA)   (D,GAC)      85, (D,GAC)   (E,GAA)      



Context             (SEQ ID NO:12062):
TGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCT
K
CAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTC
Celera SNP ID:            hCV8823907
SNP Position Transcript:  495
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1389, 125, (L,CTG)   (L,CTT)      125, (L,CTT)   (L,CTG)      



Context             (SEQ ID NO:12063):
CGCAGCAGGTAAAGGTTGTTGCTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGGACTCAGGG
Y
GGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCT
Celera SNP ID:            hCV8823952
SNP Position Transcript:  270
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1389, 50, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:12064):
CTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCAGTTGTGGGAGCCATTTCTTCCTAC
W
ACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAGGCATGAGACTGGAGGAAGGTGACAT
Celera SNP ID:            hCV904508
SNP Position Transcript:  904
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 262, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:12065):
AAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACT
Y
GGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTA
Celera SNP ID:            hCV15949330
SNP Position Transcript:  1523
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 468, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:12066):
AGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATAC
R
GAGAGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGA
Celera SNP ID:            hCV8823894
SNP Position Transcript:  690
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,9)      total(G,3|A,9) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1389, 190, (T,ACA)   (T,ACG)      190, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:12067):
GCCCAAGGCCTTTACTGAGCTCAGGACTCCAGCTAAATCAAAATACTCATGTTCTCACCCAGAGTGACAAAATCCTGCAGATAGGTTTAAGACCTAGTGG
M
TCAGAGCAGTAGCTACTGGGAAGTTAAAAGGAAGGGGCTTAGAAAATGAATGGGACCAAAGGCATCACTTCTGATGGAGATGAAGCCATCTTGAAAGTGA
Celera SNP ID:            hCV1845320
SNP Position Transcript:  2931
SNP Source:               Celera
Population(Allele,Count): no_pop(C,2|A,9)   total(A,9|C,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12068):
GTGAGTGGTGTCCTTTGGAGGCATGGTGGATGAAAGGCGCAAAGGAAGCAAGAGGTTAAAGATAATGGCCCATTAGATACAACAGCAAGCCCAAGATTCC
R
AAGAAGACAGACAACTCCCCCTAGTACCACCTAGACATTACTTTTTAAAGACATTTTACATTATTGTCCAGCAGAAAAAGGCTGTCTTGGACCATGAAAC
Celera SNP ID:            hCV1845321
SNP Position Transcript:  3128
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,9)   total(G,9|A,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12069):
AGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTC
S
GCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAG
Celera SNP ID:            hCV11928480
SNP Position Transcript:  1524
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;Caucasian, from CEPH families, part 1 - WICGR(G,170)   no_pop(C,-|G,-)   total(G,170)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1389, 468, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:12070):
TGCCCTGGAAGGCCACATCTTCTGCAACCCGGTTGACTCCCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGC
R
ACGAGTCTGTATCCCGTTCCTGGAGCGATTTCTCTAAGGCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGA
Celera SNP ID:            hCV15949343
SNP Position Transcript:  1162
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 348, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12071):
AGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTCGGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGAT
R
TGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTCTACGAGGCCCTTCTCCCCCAGTA
Celera SNP ID:            hCV15949319
SNP Position Transcript:  1579
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 487, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:12072):
AATCTAGGGACTCAAATCAGCAGAATGGGGGAGACAAAGCCCGGTCTCACCCCCTAACCTCATCCTATCTCTTTCTCCAACCCTGACTGCCCACTCCTCC
R
CAAACCGTGACCCATAGCCGCCCCCACCCCATACCTTGATCTACCATCCATCCTCTTCCCCAATCCAAACCCCACAGTCTCTTCTCTCCCACACCCTGCC
Celera SNP ID:            hCV1845317
SNP Position Transcript:  2158
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,8)   total(G,8|A,2) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1389, None   



Context             (SEQ ID NO:12073):
CTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGA
M
TCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAG
Celera SNP ID:            hCV904490
SNP Position Transcript:  537
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1389, 139, (E,GAA)   (D,GAC)      139, (D,GAC)   (E,GAA)      



Gene Number:                 266
Celera Gene:                 hCG42423 - 104000116702204
Celera Transcript:           hCT2278368 - 104000116702250
Public Transcript Accession: NM_005108
Celera Protein:              hCP1802397 - 197000064935038
Public Protein Accession:    NP_005099
Gene Symbol:                 XYLB
Protein Name:                xylulokinase homolog (H. influenzae);FLJ10343;FLJ12539;FLJ22075
Celera Genomic Axis:         GA_x5YUV32VV34(38323872..38378658)
Chromosome:                  Chr3
OMIM number:                 604049
OMIM Information:            XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF;XYLB


Transcript Sequence (SEQ ID NO:693):
CAGTCCGGCCGGGCGGAGCTAGGGGCGGGCCCCTGCGTCTCTGGGCGCTGGAGCGCGGCGACTATCACGCCGCGTGGCGGACGGACGGACTGACGGACGC
GCAGCCTTACCCGAAAGGCCATGGCGGAGCACGCCCCTCGCCGCTGCTGCCTGGGCTGGGACTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGC
AGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGGYATGTACTTGATGTGCATGTGACTCAGGGYGGTGTTCAT
GTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGAMTTCT
CTCAAGTCCTAGCCTTGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCG
GCTACACCAGCAGCTKCAGGACTGTTTCTCCATCAGCRACTGCCCGGTGTGGATGGAMTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTG
GGTGGTGCTCAGGCTCTCMGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCT
ACTCACATACRGAYAGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAA
TTTGTTGCAGATACAGGATAAAGTCTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCA
GTTGTGGGAGCCATTTCTTCCTACWACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAG
GCATGAGACTGGAGGAAGGTGACATTGCGGTCAGCCTGGGCACCAGTGACACCCTGTTTCTCTGGCTCCAAGAGCCCATGCCTGCCCTGGAAGGCCACAT
CTTCTGCAACCCGGTTGACTCCCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGCRACGAGTCTGTATCCCGT
TCCTGGAGCGATTTCTCTAAGGCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGAGATCACCCCTGAAATTA
TTGGACGTCATAGGTTTAACACAGAAAACCACAAGGTTGCAGCATTCCCTGGGGATGTGGAGGTTCGAGCACTAATTGAAGGACAATTCATGGCCAAGAG
GATTCACGCAGAAGGCCTGGGCTATCGAGTCATGTCCAAGACAAAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCA
GATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTYSGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATR
TGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCRGAATTTGTTTGT
ARCATTTGCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAAATTCTGCTTTAT
TGAAATTATCAAGAAAATGGAGCTAAAGGGCCATGTTGTCAGCTGCAAGTCACAGATACTGCTGATTTTACAGCCAGGGTCAGATGGATTGCTGGGCATA
TTTGTATTGCTTCTTATGCCTCACGGTGGGCCCTTCCATGTCACTGGGCTATAAAAGCTACTGAAAGGATCCATC

Protein Sequence    (SEQ ID NO:1390):
MAEHAPRRCCLGWDFSTQQVKVVAVDAELNVFYEESVHFDRDLPEFGYVLDVHVTQGGVHVHKDGLTVTSPVLMWVQALDIILEKMKASGFEFSQVLALS
GAGQQHGSIYWKAGAQQALTSLSPDLRLHQQLQDCFSISDCPVWMDSSTTAQCRQLEAAVGGAQALSCLTGSRAYERFTGNQIAKIYQQNPEAYSHTERI
SLVSSFAASLFLGSYSPIDYSDGSGMNLLQIQDKVWSQACLGACAPHLEEKLSPPVPSCSVVGAISSYYVQRYGFPPGCKVVAFTGDNPASLAGMRLEEG
DIAVSLGTSDTLFLWLQEPMPALEGHIFCNPVDSQHYMALLCFKNGSLMREKIRNESVSRSWSDFSKALQSTEMGNGGNLGFYFDVMEITPEIIGRHRFN
TENHKVAAFPGDVEVRALIEGQFMAKRIHAEGLGYRVMSKTKILATGGASHNREILQVLADVFDAPVYVIDTANSACVGSAYRAFHGLAGGTDVPFSEVV
KLAPNPRLAATPSPGASQVRDHQNLFVAFAL


SNP Information

Context             (SEQ ID NO:12074):
CTTCAGCACGCAGCAGGTAAAGGTTGTTGCTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGG
Y
ATGTACTTGATGTGCATGTGACTCAGGGCGGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATAT
Celera SNP ID:            hCV16242345
SNP Position Transcript:  262
SNP Source:               dbSNP
Population(Allele,Count): TSC_42_A(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_AA(C,0|T,84)   total(T,252) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 48, (H,CAT)   (Y,TAT)      



Context             (SEQ ID NO:12075):
GGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATC
R
GAATTTGTTTGTAGCATTTGCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAA
Celera SNP ID:            hCV3083938
SNP Position Transcript:  1688
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,9)      total(G,1|A,9) ;no_pop(A,-|G,-)   JBIC-allele(A,447|G,804)   total(G,804|A,447)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 523, (Q,CAG)   (R,CGG)      



Context             (SEQ ID NO:12076):
CTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGA
Y
AGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGATAC
Celera SNP ID:            hCV904492
SNP Position Transcript:  714
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)   TSC_42_T(C,0|T,84)   TSC_42_C(C,0|T,84)   TSC_42_TT(C,0|T,84)   total(T,252)    
SNP Type:                 DONOR SPLICE SITE
Protein Coding:           SEQ ID NO:1390, None   



Context             (SEQ ID NO:12077):
GGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTC
M
GCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATACAGAGAGAAT
Celera SNP ID:            hCV15949274
SNP Position Transcript:  619
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 167, (S,AGC)   (R,CGC)      



Context             (SEQ ID NO:12078):
CGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGC
R
ACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCG
Celera SNP ID:            hCV15949275
SNP Position Transcript:  538
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 140, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12079):
TTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCTTCGA
M
TTCTCTCAAGTCCTAGCCTTGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACC
Celera SNP ID:            hCV904489
SNP Position Transcript:  396
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(C,-|A,-)   JBIC-allele(A,270|C,1019)   total(A,270|C,1019)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 92, (E,GAA)   (D,GAC)      92, (D,GAC)   (E,GAA)      



Context             (SEQ ID NO:12080):
TGTCCGGGGCGGGCCAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCT
K
CAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGACTCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTC
Celera SNP ID:            hCV8823907
SNP Position Transcript:  516
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    ;no_pop(G,-|T,-)   no_pop(T,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1390, 132, (L,CTG)   (L,CTT)      132, (L,CTT)   (L,CTG)      



Context             (SEQ ID NO:12081):
CTGTTGATGCAGAGTTGAATGTCTTCTATGAGGAAAGTGTGCATTTTGACAGAGATCTTCCAGAATTTGGGTATGTACTTGATGTGCATGTGACTCAGGG
Y
GGTGTTCATGTGCACAAGGATGGGCTGACGGTCACTTCTCCAGTACTAATGTGGGTCCAGGCACTGGATATCATCTTGGAGAAGATGAAGGCTTCGGGCT
Celera SNP ID:            hCV8823952
SNP Position Transcript:  291
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    ;no_pop(C,-|T,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1390, 57, (G,GGC)   (G,GGT)      



Context             (SEQ ID NO:12082):
CTGGTCCCAGGCTTGCCTTGGTGCCTGTGCACCTCATTTAGAGGAGAAGCTTAGCCCACCAGTACCATCATGCTCAGTTGTGGGAGCCATTTCTTCCTAC
W
ACGTCCAGCGCTACGGATTTCCTCCAGGATGCAAAGTGGTGGCCTTCACTGGGGACAACCCAGCGTCGCTGGCAGGCATGAGACTGGAGGAAGGTGACAT
Celera SNP ID:            hCV904508
SNP Position Transcript:  925
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 269, (N,AAC)   (Y,TAC)      



Context             (SEQ ID NO:12083):
AAGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACT
Y
GGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTA
Celera SNP ID:            hCV15949330
SNP Position Transcript:  1544
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 475, (S,TCG)   (L,TTG)      



Context             (SEQ ID NO:12084):
AGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAGGGAACCAAATTGCAAAAATTTACCAGCAGAACCCCGAGGCCTACTCACATAC
R
GAGAGAATTTCTTTGGTCAGTAGCTTTGCTGCTTCCCTGTTCCTTGGCTCTTACTCCCCTATTGACTACAGTGATGGTTCTGGAATGAATTTGTTGCAGA
Celera SNP ID:            hCV8823894
SNP Position Transcript:  711
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,3|A,9)      total(G,3|A,9) ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1390, 197, (T,ACA)   (T,ACG)      197, (T,ACG)   (T,ACA)      



Context             (SEQ ID NO:12085):
AGATTTTGGCCACAGGAGGAGCATCTCACAATAGAGAAATCTTACAGGTGCTTGCAGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTC
S
GCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGATGTGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAG
Celera SNP ID:            hCV11928480
SNP Position Transcript:  1545
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,1|G,8)      total(G,8|C,1) ;Caucasian, from CEPH families, part 1 - WICGR(G,170)   no_pop(C,-|G,-)   total(G,170)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1390, 475, (S,TCC)   (S,TCG)      



Context             (SEQ ID NO:12086):
GCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCAGAATTTGTTTGTA
R
CATTTGCATTATGAAAGCCCGCTAGGGTTTTTTCCCCCACCAAAAGGTCACCTACATTGAACGTGATGTGCTCAACTAAAGGAGAAATTCTGCTTTATTG
Celera SNP ID:            hCV15949414
SNP Position Transcript:  1702
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 528, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:12087):
TGCCCTGGAAGGCCACATCTTCTGCAACCCGGTTGACTCCCAGCACTACATGGCACTCCTGTGCTTTAAAAATGGCTCCCTCATGAGAGAGAAGATCCGC
R
ACGAGTCTGTATCCCGTTCCTGGAGCGATTTCTCTAAGGCACTGCAGTCCACAGAGATGGGCAACGGTGGAAACCTGGGTTTTTATTTTGATGTAATGGA
Celera SNP ID:            hCV15949343
SNP Position Transcript:  1183
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 355, (N,AAC)   (D,GAC)      



Context             (SEQ ID NO:12088):
AGATGTGTTTGATGCCCCGGTGTATGTTATAGACACTGCCAACTCGGCCTGTGTGGGTTCTGCATACCGAGCTTTTCATGGTCTTGCAGGTGGAACAGAT
R
TGCCCTTTTCAGAGGTTGTGAAGTTAGCTCCAAATCCCAGACTAGCTGCTACCCCAAGCCCGGGAGCTTCTCAGGTGAGAGACCATCAGAATTTGTTTGT
Celera SNP ID:            hCV15949319
SNP Position Transcript:  1600
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 494, (M,ATG)   (V,GTG)      



Context             (SEQ ID NO:12089):
CTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGACTGTTTCTCCATCAGCGACTGCCCGGTGTGGATGGA
M
TCCAGCACCACAGCCCAGTGCCGCCAGCTGGAGGCTGCTGTGGGTGGTGCTCAGGCTCTCAGCTGCCTCACGGGGTCCCGTGCCTATGAGCGTTTTACAG
Celera SNP ID:            hCV904490
SNP Position Transcript:  558
SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    ;no_pop(A,-|C,-)   no_pop(C,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1390, 146, (E,GAA)   (D,GAC)      146, (D,GAC)   (E,GAA)      



Gene Number:                 267
Celera Gene:                 hCG42513 - 84000313468687
Celera Transcript:           hCT33789 - 84000313468688
Public Transcript Accession: NM_018932
Celera Protein:              hCP51963 - 197000069447839
Public Protein Accession:    NP_061755
Gene Symbol:                 PCDHB12
Protein Name:                protocadherin beta 12;PCDH-BETA12
Celera Genomic Axis:         GA_x5YUV32VUFE(34703385..34706978)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:694):
GGAAGATAAAATATATTTTTAATTACTTCAACAGAAGGAATTATTTAAACGCAATATTTATTTGCTTCTGGAGGACATTTATGTAAATAAAATTTAGGTA
GTGTTCATCAAACTGTGAAAATCTGTGGAGACGCGTGGTGGCGCTGCAGGATAATATCAAGAAAAAAATTACCCTGGAGGATGTTGTAGACCCTGTTATC
CAGTACACGCGGAGAACTGGGAAGACAGAAAGAACAATCCTTTAAGGGAGAACCTAGAAGCCATTCAACAAGGTTAAAATCTTYAGGCTTCCGAGGATTT
GGTAGACAGATCAGAGGCACGTTTCCCACAACTGCGAAGAGGCGCTGAGGCAATTCTGCAAGAAGATTTTGGGGTTTTGGAAAAGAAGCTATGGAAAACG
GAGGGGCAGGCACTCTGCAGATAAGGCAAGTCCTGCTTTTCTTTGTTTTGCTGGGAATGTCTCAGGCGGGCTCTGAAACTGGGAACTTTTTGGTGATGGA
GGAATTGCAGAGCGGGAGCTTTGTAGGAAATTTGGCAAAGACCCTGGGACTCGAGGTGAGTGAGCTGTCTTCGCGGGGGGCTCGGGTGGTTTCTAATGAT
AACAAAGAGTGTTTGCAGCTGGACACAAACACTGGGGATTTGCTCCTGAGAGAAATGCTAGACAGGGAGGAGCTCTGTGGCTCCAATGAGCCTTGTGTGC
TGTATTTCCAAGTGTTAATGAAAAACCCCACGCAGTTTTTACAAATTGAGCTCCAGGTCAGGGATATAAATGATCACTCTCCCGTCTTCTTGGAAAAAGA
AATGCTCTTAGAAATCCCAGAGAACAGTCCTGTTGGTGCTGTGTTCTTGCTTGAAAGTGCAAAGGATTTAGATGTAGGAATCAATGCTGTAAAAAGCTAC
ACAATAAATCCGAACTCTCATTTCCACGTTAAAATAAGAGTCAATCCAGACAATAGGAAATACCCTGAGTTAGTTCTGGACAAGGCGCTGGATTATGAAG
AGCGCCCGGAGCTCAGTTTCATCCTCACTGCTCTGGATGGCGGGTCCCCTCCCAGGTCTGGAACTGCCTTGGTCAGGGTGGTGGTTGTAGATATTAATGA
CAACTCCCCTGAGTTTGAGCAGGCTTTTTATGAGGTGAAGATTCTGGAGAATAGCATCCTTGGCTCCCTGGTTGTGACCGTCTCAGCCTGGGATTTAGAC
TCTGGAACAARCAGTGAACTATCCTATACCTTTTCCCATGCCTCAGAAGATATTCGCAAGACATTTGAAATTAATCAAAAGTCTGGTGACATTACTTTAA
CAGCACCTTTGGATTTTGAAGCAAYTGAGTCATACTCAATAATCATTCAAGCCACAGATGGGGGAGGACTTTTTGGAAAATCTACAGTCAGAATTCAGGT
GATGGATGTAAACGACAACGCTCCTGAAATCACTGTGTCATCAATTACCAGTCCAATCCCAGAAAACACTCCAGAGACTGTRGTTATGGTTTTCAGGATA
CGAGACAGAGACTCTGGGGACAACGGAAAGATGGTTTGTTCTATCCCGGAGGACATCCCATTCGTGCTAAAATCTTCGGTAAATAATTACTACACTTTGG
AAACAGAGAGACCGCTGGACAGAGAGAGCAGAGCCGAGTACAACATCAYCATCACCGTCACCGACTTGGGGACCCCCAGGCTAAAAACCGAGCACAACAT
AACCGTGCTGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCAAACTTCCTACGCCCTGTTCGTCCGCGAGAACAACAGCCCCGCCCTGCACATC
GGCAGCATCAGCGCCACAGACAGAGACTCGGGCACCAACGCCCAGGTCAACTACTCGCTGCTGCCGTCCCAGGACCCGCACCTGCCCCTCGCCTCCCTGG
TCTCCATCAACGCGGACAACGGCCACCTGTTTGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGGGTTCCAGTTCCGCGTGGGCGCCACAGACCACGG
CTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAACGGCTCCGCG
CCCTGCACCGAGCTGGTGCCCTGGGCGGCCGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGYGACTCGGGCCAGAACGCCTGGCTGTCGT
ACCAGCTGCTCAAGGCCACGGAGCCCGGGCTATTCGGYGTGTGGGCGCACAATGGCGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAA
GCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGCACGTGCTCCTGGTGGACGGCTTCTCCCAGCCCTAC
CTGCCTCTCCCGGAGGCGGCCCCGGCCCAGGCCCAGGCCGACTCGCTCACTGTCTACCTGGTGGTGGCRTTGGCCTCAGTGTCGTCGCTCTTCCTCTTCT
CGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCCCGGTCGGTCGCTGCTCGGTGCCTGAGGGCCCCTTTCCAGGACATCTGGT
GGACGTGAGTGGCACCGGGACCCTGTCCCAGAGCTACCRCTATGAGGTGTGTGTGACTGGAGGCTCCAGGTCAAATRAGTTCAAATTTCTGAAACCAATT
ATCCCCAACTTCCTACCCCAGAGCACAGGTAGTGAAGTCGAAGAAAATCCCCCATTTCAGAATAATTTGGGTTTCTGATAAAGAATGAAAAATAAAACCT
GTGTTTATGAATACATTTATAATTAGGAACTTATCGTGAGGTGCCTGTAAAGTAGTATTTTTGATCACTTCAAATACATACTCTTCAAGTCAAGAAATAA
ATTTCTTTACATAGAAAAGGATACAGATTTAGTACCAAGAACACTTCACAAAGCAGGAAATGTGCATGTGTAATGGTTTATGTCAAACAATTATGCTTAA
TATAAAGTCTATTAAGTGGTAAGTCTTGTTTGAGATATTTTAAATTGCTTTCCATTGTTTTCAATATTTACTGTGACTTTTGTTTTCTGAGTTGATTAGA
ATGCTGTTCGAGTATACCTACCCTAGTTTCAGAAGCATAGATTGTAGTGTACCTTTTTAAACTTTATTTTTTTAAAAAAAGTTGTTTTATGAATCATACA
CTATTTTCACACTTTTAATCTCAGAAGAAACATATGTGACATGGTATTTTAGTAATGACCAAATAGACGGTCTTAGAGATTCAGTAAGTTCACTAAGGTC
CACTAACTAATAAGTGACAAAACTGAGCATCCATCCTAGATCTGCCTGACTCTAAGTCAGTGACTTTGCTCCCATTCCATACTGTTTTTGTCATTGGATA
TCACCTGGCAAGTTTCTGCCTAACTAAAGAGAAGAAAAGTTTTTATCGTATTCATACTACTGTTCAATCTTTATTTAGAAATAAACTTTATCTATGATTT
CATTTTCTTATAAACCAGTAATCTTGCTTTTCTGGGTAAATTTTCAGCTATTATTACTAATGCTCTGATCTGCCCAAATCTTAAGTAAAAAAC

Protein Sequence    (SEQ ID NO:1391):
MENGGAGTLQIRQVLLFFVLLGMSQAGSETGNFLVMEELQSGSFVGNLAKTLGLEVSELSSRGARVVSNDNKECLQLDTNTGDLLLREMLDREELCGSNE
PCVLYFQVLMKNPTQFLQIELQVRDINDHSPVFLEKEMLLEIPENSPVGAVFLLESAKDLDVGINAVKSYTINPNSHFHVKIRVNPDNRKYPELVLDKAL
DYEERPELSFILTALDGGSPPRSGTALVRVVVVDINDNSPEFEQAFYEVKILENSILGSLVVTVSAWDLDSGTNSELSYTFSHASEDIRKTFEINQKSGD
ITLTAPLDFEAIESYSIIIQATDGGGLFGKSTVRIQVMDVNDNAPEITVSSITSPIPENTPETVVMVFRIRDRDSGDNGKMVCSIPEDIPFVLKSSVNNY
YTLETERPLDRESRAEYNITITVTDLGTPRLKTEHNITVLVSDVNDNAPAFTQTSYALFVRENNSPALHIGSISATDRDSGTNAQVNYSLLPSQDPHLPL
ASLVSINADNGHLFALRSLDYEALQGFQFRVGATDHGSPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTELVPWAAEPGYLVTKVVAVDGDSGQNA
WLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLVVLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSL
FLFSVLLFVAVRLCRRSRAAPVGRCSVPEGPFPGHLVDVSGTGTLSQSYHYEVCVTGGSRSNKFKFLKPIIPNFLPQSTGSEVEENPPFQNNLGF


SNP Information

Context             (SEQ ID NO:12090):
GGGCCCCTTTCCAGGACATCTGGTGGACGTGAGTGGCACCGGGACCCTGTCCCAGAGCTACCACTATGAGGTGTGTGTGACTGGAGGCTCCAGGTCAAAT
R
AGTTCAAATTTCTGAAACCAATTATCCCCAACTTCCTACCCCAGAGCACAGGTAGTGAAGTCGAAGAAAATCCCCCATTTCAGAATAATTTGGGTTTCTG
Celera SNP ID:            hCV15946737
SNP Position Transcript:  2677
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,27)   caucasian(A,14|G,16)   total(A,21|G,43)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 763, (K,AAG)   (E,GAG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 763, (K,AAG)   (E,GAG)      



Context             (SEQ ID NO:12091):
TGCTCCTGGTGGACGGCTTCTCCCAGCCCTACCTGCCTCTCCCGGAGGCGGCCCCGGCCCAGGCCCAGGCCGACTCGCTCACTGTCTACCTGGTGGTGGC
R
TTGGCCTCAGTGTCGTCGCTCTTCCTCTTCTCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCCCGGTCGGTCGCTGCTCGG
Celera SNP ID:            hCV25999693
SNP Position Transcript:  2469
SNP Source:               Applera
Population(Allele,Count): african american(A,10|G,12)   caucasian(A,11|G,15)   total(A,21|G,27)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1391, 693, (A,GCA)   (A,GCG)   



Context             (SEQ ID NO:12092):
AGCAGGGCGGCCCCGGTCGGTCGCTGCTCGGTGCCTGAGGGCCCCTTTCCAGGACATCTGGTGGACGTGAGTGGCACCGGGACCCTGTCCCAGAGCTACC
R
CTATGAGGTGTGTGTGACTGGAGGCTCCAGGTCAAATAAGTTCAAATTTCTGAAACCAATTATCCCCAACTTCCTACCCCAGAGCACAGGTAGTGAAGTC
Celera SNP ID:            hCV25972136
SNP Position Transcript:  2639
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 750, (H,CAC)   (R,CGC)   



Context             (SEQ ID NO:12093):
GAGTTTGAGCAGGCTTTTTATGAGGTGAAGATTCTGGAGAATAGCATCCTTGGCTCCCTGGTTGTGACCGTCTCAGCCTGGGATTTAGACTCTGGAACAA
R
CAGTGAACTATCCTATACCTTTTCCCATGCCTCAGAAGATATTCGCAAGACATTTGAAATTAATCAAAAGTCTGGTGACATTACTTTAACAGCACCTTTG
Celera SNP ID:            hCV25973375
SNP Position Transcript:  1211
SNP Source:               Applera
Population(Allele,Count): african american(A,37|G,1)   caucasian(A,40)   total(A,77|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 274, (N,AAC)   (S,AGC)   



Context             (SEQ ID NO:12094):
CTACAGTCAGAATTCAGGTGATGGATGTAAACGACAACGCTCCTGAAATCACTGTGTCATCAATTACCAGTCCAATCCCAGAAAACACTCCAGAGACTGT
R
GTTATGGTTTTCAGGATACGAGACAGAGACTCTGGGGACAACGGAAAGATGGTTTGTTCTATCCCGGAGGACATCCCATTCGTGCTAAAATCTTCGGTAA
Celera SNP ID:            hCV25965599
SNP Position Transcript:  1482
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,34)   total(A,1|G,69)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1391, 364, (V,GTA)   (V,GTG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,35)   caucasian(G,36)   total(A,1|G,71)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1391, 364, (V,GTA)   (V,GTG)   



Context             (SEQ ID NO:12095):
TATACCTTTTCCCATGCCTCAGAAGATATTCGCAAGACATTTGAAATTAATCAAAAGTCTGGTGACATTACTTTAACAGCACCTTTGGATTTTGAAGCAA
Y
TGAGTCATACTCAATAATCATTCAAGCCACAGATGGGGGAGGACTTTTTGGAAAATCTACAGTCAGAATTCAGGTGATGGATGTAAACGACAACGCTCCT
Celera SNP ID:            hCV25972764
SNP Position Transcript:  1325
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,35)   caucasian(T,22)   total(C,1|T,57)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 312, (T,ACT)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,38)   total(C,1|T,75)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 312, (T,ACT)   (I,ATT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,33)   caucasian(T,36)   total(C,1|T,69)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 312, (T,ACT)   (I,ATT)   



Context             (SEQ ID NO:12096):
TTGTAGACCCTGTTATCCAGTACACGCGGAGAACTGGGAAGACAGAAAGAACAATCCTTTAAGGGAGAACCTAGAAGCCATTCAACAAGGTTAAAATCTT
Y
AGGCTTCCGAGGATTTGGTAGACAGATCAGAGGCACGTTTCCCACAACTGCGAAGAGGCGCTGAGGCAATTCTGCAAGAAGATTTTGGGGTTTTGGAAAA
Celera SNP ID:            hCV2589329
SNP Position Transcript:  284
SNP Source:               Applera
Population(Allele,Count): african american(C,4|T,20)   caucasian(C,8|T,10)   total(C,12|T,30)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1391, None

SNP Source:               Applera
Population(Allele,Count): african american(C,12|T,24)   caucasian(C,19|T,21)   total(C,31|T,45)   
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1391, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,6)      total(C,6|T,4) ;no_pop(T,-|C,-)   no_pop(C,-|T,-)   Myers-AT(T,21|C,26)   total(C,26|T,21) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1391, None   



Context             (SEQ ID NO:12097):
GCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGTGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTATTCGG
Y
GTGTGGGCGCACAATGGCGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAAGCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGC
Celera SNP ID:            hCV25990667
SNP Position Transcript:  2238
SNP Source:               Applera
Population(Allele,Count): african american(C,35|T,1)   caucasian(C,24|T,8)   total(C,59|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1391, 616, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:12098):
GAGGACATCCCATTCGTGCTAAAATCTTCGGTAAATAATTACTACACTTTGGAAACAGAGAGACCGCTGGACAGAGAGAGCAGAGCCGAGTACAACATCA
Y
CATCACCGTCACCGACTTGGGGACCCCCAGGCTAAAAACCGAGCACAACATAACCGTGCTGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCAA
Celera SNP ID:            hCV1390302
SNP Position Transcript:  1649
SNP Source:               Applera
Population(Allele,Count): african american(C,31|T,3)   caucasian(C,19|T,13)   total(C,50|T,16)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 420, (T,ACC)   (I,ATC)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,4|C,7)      total(C,7|T,4) ;no_pop(C,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1391, 420, (T,ACC)   (I,ATC)      



Context             (SEQ ID NO:12099):
TGCTGTACCCGCTGCAGAACGGCTCCGCGCCCTGCACCGAGCTGGTGCCCTGGGCGGCCGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGG
Y
GACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTATTCGGCGTGTGGGCGCACAATGGCGAGGTGCGCACCGCCA
Celera SNP ID:            hCV25991343
SNP Position Transcript:  2172
SNP Source:               Applera
Population(Allele,Count): african american(C,9|T,3)   caucasian(C,6|T,14)   total(C,15|T,17)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1391, 594, (G,GGC)   (G,GGT)   



Gene Number:                 268
Celera Gene:                 hCG42518 - 206000044684915
Celera Transcript:           hCT33796 - 206000044684916
Public Transcript Accession: NM_019119
Celera Protein:              hCP51981 - 206000044684914
Public Protein Accession:    NP_061992
Gene Symbol:                 PCDHB3
Protein Name:                protocadherin beta 3;PCDH-BETA3
Celera Genomic Axis:         GA_x5YUV32VUFE(34811673..34815250)
Chromosome:                  Chr5
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:695):
CGTAGATAAAAGTGCATTTTATTTCCCTAGATTGCATTTATTTAATTCATATAACATGAGAAACTCCTCCAGTAGCGTCAACTAGGGTTGATAAGAATAA
TCGATAAAGCAAAATAAAAACACCTTCTCCAAGATTTTGTAACTGCAAGCGAACGCATGGTGGCGCTGTTGACTAAGAAGGCGAATTAAACCACAGGCAT
TGTGCATGCTCGGTGACGCACGGATCCAGTGTGGTAAACCAGCGGTTGAGAGCCCAGGCAGATTTTTGASCCAGCAASTCTGAGCCTCTGGAAAGGCTTA
TTCACTAGGCCGTCTACAAAGGTTGTGGGGCAAAAGACTGTTTCCCAGCKCTGTCTGAGGTTCAGCTTGGCGACATTCCCTGGAAGAGCGTGACGGAAAG
TGCAATGGAGGCGGGAGGAGAGCGATTTCTTAGACAAAGGCAAGTSTTGCTTCTCTTTGTTTTTCTGGGAGGGTCTCTGGCTGGGTCCGAGTCAAGACGC
TATTCTGTGGCTGAGGAAAAAGAGARGGGCTTTTTAATAGCCAACCTAGCAAAGGATCTGGGACTAAGGGTAGAGGAACTGGCCGCGAGGGGGGCCCAAG
TTGTGTCCAAAGGGAACAAACAGCATTTTCAGCTCAGTCATCAGAYAGGTGATTTGCTCCTGAATGAGAAATTGGACCGGGAGGAGCTATGCGGCCCCAC
AGAACCATGCATACTACATTTTCAGATATTACTGCAAAACCCTTTGCARTTCGTTACAAACGAGCTCCGTATCATAGATGTAAATGACCATTCTCCGGTA
TTCTTTGAAAATGAAATGCATCTGAAAATCCTAGAAAGCACTCTGCCAGGAACAGTAATTCCTTTGGGAAATGCTGAGGACTTGGATGTGGGAAGAAACA
GCCTCCAAAACTACACTATCACTCCGAATTCCCACTTCCACGTACTCACTCGCAGTCGTAGGGACGGAAGGAAGTACCCGGAACTAGTACTGGATAAAGC
GCTCGATCGGGAGGAGCAGCCGRAACTCAGCTTAACGCTCACCGCGCTGGACGGCGGCTCTCCCCCTCGGTCTGGGACAGCCCAGATAAACATCCAGGTC
TTAGATATAAACGACAATGCACCAGAATTTGCACAGCCGCTCTATGAGGTTGCAGTTCTAGAGAATACCCCCGTTAACTCTGTCATTGTCACTGTCTCGG
CTTCTGACTTAGATACAGGAAGTTTTGGGACAATATCATATGCATTTTTTCATGCTTCTGAAGAAATTCGCAAAACTTTTCAGCTAAATCCAATTACTGG
TGRTATGCAACTGGTCAAATATTTGAATTTTGAAGCGATTAATAGTTATGAAGTCGACATCGAGGCCAAGGATGGCGGAGGCCTATCCGGAAAGTCTACA
GTCATAGTCCAGGTGGTTGATGTCAACGACAACCCACCGGAACTGACCTTGTCTTCAGTAAACAGCCCTATTCCTGAGAACTCGGGAGAGACTGWACTGG
CTGTTTTCAGTGTTTCTGATCTAGACTCTGGAGACAACGGAAGAGTGATGTGTTCCATTGAGAACAATCTCCCCTTCTTCCTGAAACCATCTGTAGAGAA
TTTTTACACCCTAGTGTCAGAAGGCGCGCTGGACAGAGAGACCAGWTCCGAGTACAACATTACCATCACTATCACTGACCTGGGGACACCCAGGCTGAAA
ACCAAGTACAACATAACCGTGCTGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCAAAYCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCC
CCGCCCTGCACATCGGCAGTGTCAGCGCCACAGACAGAGACTCAGGCACCAACGCCCAGGTAACCTACTCGCTGCTGCCGCCCCAGGACCCGCACCTGCC
CCTCTCTTCCCTGGTCTCCATCAACRCGGACAACGGCCACCTGTTYGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGC
GCCRCAGACCGYGGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTTYGTGCTGTACCCGCTGC
AGAAYGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCSGTGGACRGYGACTCGGGCCAGAA
CGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGARGTGCGYACCGCCAGGCTGCTGAGCGAG
CGCGACGCGGCCAAGCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGCAYGTGCTCCTGGTGGACGGCT
TCTCCCAGCCCTACCTGCCTCTCCCGGAGGCGGCACCGGCCCAGGCCCAGGCCGACTTGCTCACCGTCTACCTGGTGGTGGCRTTGGCCTCGGTGTCTTC
GCTCTTCCTCTTYTCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGCCCCYTT
CCAGGGCAGATGGTGGACGTGAGCGGCACCGGGACCCTGTCCCAGAGCTACCARTACGAGGTGTGTCTGACTGGAGGCTCCGGGACAAATGAGTTCAAGT
TCCTGAAGCCAATTATCCCCAACTTCGTTGCTCAGGGTGCAGAGAGGGTTAGCGAGGCAAATCCCAGTTTCAGGAAGAGCTTTGAATTCAGTTAAGTGTT
AATAAGSATCTACTGAGCCTCGTCTTAGTTAATCTGTGGAAAGTCCTTTTTTACTGCTTTGYCCATTGGAGAGGTCTTTTTTGGTCTGGTTCAAGGCAAG
TAGCAAGAATAGAGCAAAATATCAAATCCAGGGATGGCTTAGGTTTCATTAACAGTACTGGAAAGTAGTTGTGTGGCTCTGAATGTTTTGTATTTCAATC
GAGAATCCTTAGTCGATAGAACATTTTGTTTATATATTGATKCTACTTTTTCTGTAGTTAATCCTTGCATATTCTCCTTTCATCCTGGCTTGCCAACGCA
GTCTTAATTCCGCCTTTTTTTTTTCTAATGGGGAGCAAAAAGAAATTCACTGTCTTTTAATAGTGATTTCAAATAGCTTATTAAAATAACTCCATTCAAA
TTTTACATTATAAAGCAATGTAGAGAGAGTTCCAAACCACCAATTTTATAATTTCCCTTGTTGAATATATTCATATAATGTGTTCTATAATATGCCCAAA
GCAGCTTTGTCTATAGTTAACAAAGTTTTAAGGATAGACAAGAATGTGTTTTCTTTAATAAATAGTAATATATCATCTTTTTAGGGATATAGTACTCAAA
TGAAAGTAATTTAGTTCATTTTCTGTGTTGACATTTGCAATTAATATTTCAATATTTTATGTGCTTATATTGGCCAAAATATGGACACAAATATAGACTA
ATATGGGTAATTACCCTTTGGTTTATCTAAAGTGTGTTCATGATGACYGAGGAAAAAAATTAAACCTATGCCATTTA

Protein Sequence    (SEQ ID NO:1392):
MEAGGERFLRQRQVLLLFVFLGGSLAGSESRRYSVAEEKEKGFLIANLAKDLGLRVEELAARGAQVVSKGNKQHFQLSHQTGDLLLNEKLDREELCGPTE
PCILHFQILLQNPLQFVTNELRIIDVNDHSPVFFENEMHLKILESTLPGTVIPLGNAEDLDVGRNSLQNYTITPNSHFHVLTRSRRDGRKYPELVLDKAL
DREEQPELSLTLTALDGGSPPRSGTAQINIQVLDINDNAPEFAQPLYEVAVLENTPVNSVIVTVSASDLDTGSFGTISYAFFHASEEIRKTFQLNPITGD
MQLVKYLNFEAINSYEVDIEAKDGGGLSGKSTVIVQVVDVNDNPPELTLSSVNSPIPENSGETVLAVFSVSDLDSGDNGRVMCSIENNLPFFLKPSVENF
YTLVSEGALDRETRSEYNITITITDLGTPRLKTKYNITVLVSDVNDNAPAFTQISYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPL
SSLVSINADNGHLFALRSLDYEALQAFEFRVGATDRGSPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNA
WLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLVVLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADLLTVYLVVALASVSSL
FLFSVLLFVAVRLCRRSRAASVGRCSVPEGPFPGQMVDVSGTGTLSQSYQYEVCLTGGSGTNEFKFLKPIIPNFVAQGAERVSEANPSFRKSFEFS


SNP Information

Context             (SEQ ID NO:12100):
TCGAGTTCCGCGTGGGCGCCACAGACCGTGGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTT
Y
GTGCTGTACCCGCTGCAGAACGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACG
Celera SNP ID:            hCV26312419
SNP Position Transcript:  2084
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,5)   total(C,5|T,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 560, (F,TTC)   (F,TTT)      



Context             (SEQ ID NO:12101):
GTGATTTGCTCCTGAATGAGAAATTGGACCGGGAGGAGCTATGCGGCCCCACAGAACCATGCATACTACATTTTCAGATATTACTGCAAAACCCTTTGCA
R
TTCGTTACAAACGAGCTCCGTATCATAGATGTAAATGACCATTCTCCGGTATTCTTTGAAAATGAAATGCATCTGAAAATCCTAGAAAGCACTCTGCCAG
Celera SNP ID:            hCV25939465
SNP Position Transcript:  749
SNP Source:               Applera
Population(Allele,Count): african american(A,36|G,2)   caucasian(A,29|G,3)   total(A,65|G,5)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 115, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:12102):
CGCCCTTCGTGCTGTACCCGCTGCAGAACGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGC
S
GTGGACGGCGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAAGTGC
Celera SNP ID:            hCV25932275
SNP Position Transcript:  2177
SNP Source:               Applera
Population(Allele,Count): african american(C,7|G,31)   caucasian(C,1|G,35)   total(C,8|G,66)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 591, (A,GCC)   (A,GCG)   



Context             (SEQ ID NO:12103):
ATCACTATCACTGACCTGGGGACACCCAGGCTGAAAACCAAGTACAACATAACCGTGCTGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCAAA
Y
CTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCGCCCTGCACATCGGCAGTGTCAGCGCCACAGACAGAGACTCAGGCACCAACGCCCAGGTAACC
Celera SNP ID:            hCV25934309
SNP Position Transcript:  1765
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,16)   caucasian(C,4|T,28)   total(C,6|T,44)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 454, (T,ACC)   (I,ATC)   

SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,34)   caucasian(C,6|T,34)   total(C,8|T,68)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 454, (T,ACC)   (I,ATC)   



Context             (SEQ ID NO:12104):
CGCCACAGACAGAGACTCAGGCACCAACGCCCAGGTAACCTACTCGCTGCTGCCGCCCCAGGACCCGCACCTGCCCCTCTCTTCCCTGGTCTCCATCAAC
R
CGGACAACGGCCACCTGTTTGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCCACAGACCGTGGCTCCCCGGCTTT
Celera SNP ID:            hCV25940562
SNP Position Transcript:  1926
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(A,1|G,39)   total(A,1|G,75)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 508, (T,ACG)   (A,GCG)   



Context             (SEQ ID NO:12105):
TCCGAATTCCCACTTCCACGTACTCACTCGCAGTCGTAGGGACGGAAGGAAGTACCCGGAACTAGTACTGGATAAAGCGCTCGATCGGGAGGAGCAGCCG
R
AACTCAGCTTAACGCTCACCGCGCTGGACGGCGGCTCTCCCCCTCGGTCTGGGACAGCCCAGATAAACATCCAGGTCTTAGATATAAACGACAATGCACC
Celera SNP ID:            hCV3169656
SNP Position Transcript:  1023
SNP Source:               Applera
Population(Allele,Count): african american(A,7|G,27)   caucasian(A,8|G,32)   total(A,15|G,59)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 207, (K,AAA)   (E,GAA)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,9)   total(G,9|A,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 207, (K,AAA)   (E,GAA)      



Context             (SEQ ID NO:12106):
CTAGCAAAGGATCTGGGACTAAGGGTAGAGGAACTGGCCGCGAGGGGGGCCCAAGTTGTGTCCAAAGGGAACAAACAGCATTTTCAGCTCAGTCATCAGA
Y
AGGTGATTTGCTCCTGAATGAGAAATTGGACCGGGAGGAGCTATGCGGCCCCACAGAACCATGCATACTACATTTTCAGATATTACTGCAAAACCCTTTG
Celera SNP ID:            hCV25939841
SNP Position Transcript:  646
SNP Source:               Applera
Population(Allele,Count): african american(C,34)   caucasian(C,31|T,1)   total(C,65|T,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 81, (T,ACA)   (I,ATA)   



Context             (SEQ ID NO:12107):
TGATGTGTTCCATTGAGAACAATCTCCCCTTCTTCCTGAAACCATCTGTAGAGAATTTTTACACCCTAGTGTCAGAAGGCGCGCTGGACAGAGAGACCAG
W
TCCGAGTACAACATTACCATCACTATCACTGACCTGGGGACACCCAGGCTGAAAACCAAGTACAACATAACCGTGCTGGTCTCCGACGTCAATGACAACG
Celera SNP ID:            hCV10011992
SNP Position Transcript:  1646
SNP Source:               Applera
Population(Allele,Count): african american(A,25|T,5)   caucasian(A,32|T,6)   total(A,57|T,11)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 414, (R,AGA)   (S,AGT)   

SNP Source:               Applera
Population(Allele,Count): african american(A,27|T,7)   caucasian(A,29|T,7)   total(A,56|T,14)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 414, (R,AGA)   (S,AGT)   

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(T,1|A,7)      total(A,7|T,1) ;no_pop(A,-|T,-)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 414, (R,AGA)   (S,AGT)      



Context             (SEQ ID NO:12108):
TTTCTTAGACAAAGGCAAGTCTTGCTTCTCTTTGTTTTTCTGGGAGGGTCTCTGGCTGGGTCCGAGTCAAGACGCTATTCTGTGGCTGAGGAAAAAGAGA
R
GGGCTTTTTAATAGCCAACCTAGCAAAGGATCTGGGACTAAGGGTAGAGGAACTGGCCGCGAGGGGGGCCCAAGTTGTGTCCAAAGGGAACAAACAGCAT
Celera SNP ID:            hCV985775
SNP Position Transcript:  526
SNP Source:               Applera
Population(Allele,Count): african american(A,32|G,4)   caucasian(A,32|G,4)   total(A,64|G,8)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 41, (K,AAG)   (R,AGG)   

SNP Source:               Applera
Population(Allele,Count): african american(A,17|G,3)   caucasian(A,21|G,1)   total(A,38|G,4)   
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 41, (K,AAG)   (R,AGG)   

SNP Source:               HGBASE;dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    ;no_pop(A,-|G,-)   no_pop(G,-|A,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 41, (K,AAG)   (R,AGG)      41, (R,AGG)   (K,AAG)      



Context             (SEQ ID NO:12109):
GAGCCCAGGCAGATTTTTGAGCCAGCAAGTCTGAGCCTCTGGAAAGGCTTATTCACTAGGCCGTCTACAAAGGTTGTGGGGCAAAAGACTGTTTCCCAGC
K
CTGTCTGAGGTTCAGCTTGGCGACATTCCCTGGAAGAGCGTGACGGAAAGTGCAATGGAGGCGGGAGGAGAGCGATTTCTTAGACAAAGGCAAGTCTTGC
Celera SNP ID:            hCV8939774
SNP Position Transcript:  350
SNP Source:               Applera
Population(Allele,Count): african american(G,2|T,36)   caucasian(G,6|T,34)   total(G,8|T,70)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12110):
TGCTCCTGGTGGACGGCTTCTCCCAGCCCTACCTGCCTCTCCCGGAGGCGGCACCGGCCCAGGCCCAGGCCGACTTGCTCACCGTCTACCTGGTGGTGGC
R
TTGGCCTCGGTGTCTTCGCTCTTCCTCTTTTCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGG
Celera SNP ID:            hCV25937091
SNP Position Transcript:  2483
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,34|G,6)   total(A,68|G,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 693, (A,GCA)   (A,GCG)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|G,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 693, (A,GCA)   (A,GCG)      



Context             (SEQ ID NO:12111):
TGGTCTCCATCAACGCGGACAACGGCCACCTGTTTGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCCACAGACCG
Y
GGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAACGGCTCCG
Celera SNP ID:            hCV26312420
SNP Position Transcript:  2012
SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|T,6)   total(C,1|T,6) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 536, (R,CGC)   (R,CGT)      



Context             (SEQ ID NO:12112):
CTCTTCCCTGGTCTCCATCAACGCGGACAACGGCCACCTGTTTGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCC
R
CAGACCGTGGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAA
Celera SNP ID:            hCV26312421
SNP Position Transcript:  2004
SNP Source:               Celera
Population(Allele,Count): no_pop(G,1|A,6)   total(G,1|A,6) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 534, (T,ACA)   (A,GCA)      



Context             (SEQ ID NO:12113):
TTATTTAATTCATATAACATGAGAAACTCCTCCAGTAGCGTCAACTAGGGTTGATAAGAATAATCGATAAAGCAAAATAAAAACACCTTCTCCAAGATTT
T
GTAACTGCAAGCGAACGCATGGTGGCGCTGTTGACTAAGAAGGCGAATTAAACCACAGGCATTGTGCATGCTCGGTGACGCACGGATCCAGTGTGGTAAA
Celera SNP ID:            hCV26312422
SNP Position Transcript:  138
SNP Source:               Celera
Population(Allele,Count): no_pop(-,1|T,4)   total(T,4|-,1) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12114):
AAGGCGAATTAAACCACAGGCATTGTGCATGCTCGGTGACGCACGGATCCAGTGTGGTAAACCAGCGGTTGAGAGCCCAGGCAGATTTTTGAGCCAGCAA
S
TCTGAGCCTCTGGAAAGGCTTATTCACTAGGCCGTCTACAAAGGTTGTGGGGCAAAAGACTGTTTCCCAGCTCTGTCTGAGGTTCAGCTTGGCGACATTC
Celera SNP ID:            hCV8939779
SNP Position Transcript:  278
SNP Source:               Applera
Population(Allele,Count): african american(C,2|G,24)   caucasian(C,5|G,23)   total(C,7|G,47)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12115):
TGACTAAGAAGGCGAATTAAACCACAGGCATTGTGCATGCTCGGTGACGCACGGATCCAGTGTGGTAAACCAGCGGTTGAGAGCCCAGGCAGATTTTTGA
S
CCAGCAAGTCTGAGCCTCTGGAAAGGCTTATTCACTAGGCCGTCTACAAAGGTTGTGGGGCAAAAGACTGTTTCCCAGCTCTGTCTGAGGTTCAGCTTGG
Celera SNP ID:            hCV25937542
SNP Position Transcript:  270
SNP Source:               Applera
Population(Allele,Count): african american(C,1|G,25)   caucasian(G,28)   total(C,1|G,53)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1392, None



Context             (SEQ ID NO:12116):
TGCTGTACCCGCTGCAGAACGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGG
Y
GACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAAGTGCGCACCGCCA
Celera SNP ID:            hCV25956700
SNP Position Transcript:  2186
SNP Source:               Applera
Population(Allele,Count): african american(C,30|T,8)   caucasian(C,35|T,1)   total(C,65|T,9)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 594, (G,GGC)   (G,GGT)   



Context             (SEQ ID NO:12117):
TTCAATATTTTATGTGCTTATATTGGCCAAAATATGGACACAAATATAGACTAATATGGGTAATTACCCTTTGGTTTATCTAAAGTGTGTTCATGATGAC
Y
GAGGAAAAAAATTAAACCTATGCCATTTA
Celera SNP ID:            hCV29063524
SNP Position Transcript:  3548
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12118):
TGGACGGCGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAAGTGCG
Y
ACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAAGCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGC
Celera SNP ID:            hCV25957341
SNP Position Transcript:  2279
SNP Source:               Applera
Population(Allele,Count): african american(C,34|T,4)   caucasian(C,25|T,9)   total(C,59|T,13)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 625, (R,CGC)   (R,CGT)   



Context             (SEQ ID NO:12119):
GGTTTCATTAACAGTACTGGAAAGTAGTTGTGTGGCTCTGAATGTTTTGTATTTCAATCGAGAATCCTTAGTCGATAGAACATTTTGTTTATATATTGAT
K
CTACTTTTTCTGTAGTTAATCCTTGCATATTCTCCTTTCATCCTGGCTTGCCAACGCAGTCTTAATTCCGCCTTTTTTTTTTCTAATGGGGAGCAAAAAG
Celera SNP ID:            hCV29063525
SNP Position Transcript:  3042
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|T,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12120):
TCTGACTTAGATACAGGAAGTTTTGGGACAATATCATATGCATTTTTTCATGCTTCTGAAGAAATTCGCAAAACTTTTCAGCTAAATCCAATTACTGGTG
R
TATGCAACTGGTCAAATATTTGAATTTTGAAGCGATTAATAGTTATGAAGTCGACATCGAGGCCAAGGATGGCGGAGGCCTATCCGGAAAGTCTACAGTC
Celera SNP ID:            hCV25935111
SNP Position Transcript:  1303
SNP Source:               Applera
Population(Allele,Count): african american(A,35|G,1)   caucasian(A,40)   total(A,75|G,1)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 300, (D,GAT)   (G,GGT)   



Context             (SEQ ID NO:12121):
TCTACAGTCATAGTCCAGGTGGTTGATGTCAACGACAACCCACCGGAACTGACCTTGTCTTCAGTAAACAGCCCTATTCCTGAGAACTCGGGAGAGACTG
W
ACTGGCTGTTTTCAGTGTTTCTGATCTAGACTCTGGAGACAACGGAAGAGTGATGTGTTCCATTGAGAACAATCTCCCCTTCTTCCTGAAACCATCTGTA
Celera SNP ID:            hCV29063526
SNP Position Transcript:  1495
SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 364, (E,GAA)   (V,GTA)      



Context             (SEQ ID NO:12122):
CAGACCGTGGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAA
Y
GGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCCT
Celera SNP ID:            hCV25932195
SNP Position Transcript:  2105
SNP Source:               Applera
Population(Allele,Count): african american(C,32|T,2)   caucasian(C,37|T,1)   total(C,69|T,3)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 567, (N,AAC)   (N,AAT)   

SNP Source:               Applera
Population(Allele,Count): african american(C,37|T,1)   caucasian(C,32|T,4)   total(C,69|T,5)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 567, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:12123):
CAGCTCTGTCTGAGGTTCAGCTTGGCGACATTCCCTGGAAGAGCGTGACGGAAAGTGCAATGGAGGCGGGAGGAGAGCGATTTCTTAGACAAAGGCAAGT
S
TTGCTTCTCTTTGTTTTTCTGGGAGGGTCTCTGGCTGGGTCCGAGTCAAGACGCTATTCTGTGGCTGAGGAAAAAGAGAAGGGCTTTTTAATAGCCAACC
Celera SNP ID:            hCV25936769
SNP Position Transcript:  446
SNP Source:               Applera
Population(Allele,Count): african american(C,37|G,1)   caucasian(C,40)   total(C,77|G,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 14, (V,GTC)   (V,GTG)   



Context             (SEQ ID NO:12124):
GCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGCCCCTTTCCAGGGCAGATGGTGGACGTGAGCGGCACCGGGACCCTGTCCCAGAGCTACCA
R
TACGAGGTGTGTCTGACTGGAGGCTCCGGGACAAATGAGTTCAAGTTCCTGAAGCCAATTATCCCCAACTTCGTTGCTCAGGGTGCAGAGAGGGTTAGCG
Celera SNP ID:            hCV10011982
SNP Position Transcript:  2654
SNP Source:               Applera
Population(Allele,Count): african american(A,34|G,2)   caucasian(A,23|G,13)   total(A,57|G,15)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 750, (Q,CAA)   (Q,CAG)   



Context             (SEQ ID NO:12125):
GCACCAACGCCCAGGTAACCTACTCGCTGCTGCCGCCCCAGGACCCGCACCTGCCCCTCTCTTCCCTGGTCTCCATCAACGCGGACAACGGCCACCTGTT
Y
GCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCCACAGACCGTGGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGC
Celera SNP ID:            hCV25940579
SNP Position Transcript:  1946
SNP Source:               Applera
Population(Allele,Count): african american(C,27|T,1)   caucasian(C,25|T,7)   total(C,52|T,8)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 514, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:12126):
ACCTGCCTCTCCCGGAGGCGGCACCGGCCCAGGCCCAGGCCGACTTGCTCACCGTCTACCTGGTGGTGGCATTGGCCTCGGTGTCTTCGCTCTTCCTCTT
Y
TCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGCCCCTTTCCAGGGCAGATGG
Celera SNP ID:            hCV25937049
SNP Position Transcript:  2513
SNP Source:               Applera
Population(Allele,Count): african american(C,2|T,32)   caucasian(C,4|T,32)   total(C,6|T,64)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 703, (F,TTC)   (F,TTT)   



Context             (SEQ ID NO:12127):
TTCGCTCTTCCTCTTTTCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGCCCC
Y
TTCCAGGGCAGATGGTGGACGTGAGCGGCACCGGGACCCTGTCCCAGAGCTACCAATACGAGGTGTGTCTGACTGGAGGCTCCGGGACAAATGAGTTCAA
Celera SNP ID:            hCV26312414
SNP Position Transcript:  2598
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 732, (L,CTT)   (F,TTT)      



Context             (SEQ ID NO:12128):
CCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAAGCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGCA
Y
GTGCTCCTGGTGGACGGCTTCTCCCAGCCCTACCTGCCTCTCCCGGAGGCGGCACCGGCCCAGGCCCAGGCCGACTTGCTCACCGTCTACCTGGTGGTGG
Celera SNP ID:            hCV26312416
SNP Position Transcript:  2381
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 659, (H,CAC)   (H,CAT)      



Context             (SEQ ID NO:12129):
AGCCAATTATCCCCAACTTCGTTGCTCAGGGTGCAGAGAGGGTTAGCGAGGCAAATCCCAGTTTCAGGAAGAGCTTTGAATTCAGTTAAGTGTTAATAAG
S
ATCTACTGAGCCTCGTCTTAGTTAATCTGTGGAAAGTCCTTTTTTACTGCTTTGTCCATTGGAGAGGTCTTTTTTGGTCTGGTTCAAGGCAAGTAGCAAG
Celera SNP ID:            hCV3191747
SNP Position Transcript:  2807
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(C,1|G,39)   total(C,1|G,75)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None

SNP Source:               Celera
Population(Allele,Count): no_pop(C,1|G,4)   total(G,4|C,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None   



Context             (SEQ ID NO:12130):
TGGCGGTGGACGGCGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGA
R
GTGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAAGCACAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCA
Celera SNP ID:            hCV26312417
SNP Position Transcript:  2273
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,2|A,4)      total(G,2|A,4) ;no_pop(A,-|G,-)   
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1392, 623, (E,GAA)   (E,GAG)      



Context             (SEQ ID NO:12131):
CGTGCTGTACCCGCTGCAGAACGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCTGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGAC
R
GCGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAAGTGCGCACCGC
Celera SNP ID:            hCV26312418
SNP Position Transcript:  2184
SNP Source:               Celera
Population(Allele,Count): no_pop(A,2|G,4)   total(G,4|A,2) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1392, 594, (S,AGC)   (G,GGC)      



Context             (SEQ ID NO:12132):
TCCCAGTTTCAGGAAGAGCTTTGAATTCAGTTAAGTGTTAATAAGGATCTACTGAGCCTCGTCTTAGTTAATCTGTGGAAAGTCCTTTTTTACTGCTTTG
Y
CCATTGGAGAGGTCTTTTTTGGTCTGGTTCAAGGCAAGTAGCAAGAATAGAGCAAAATATCAAATCCAGGGATGGCTTAGGTTTCATTAACAGTACTGGA
Celera SNP ID:            hCV3191748
SNP Position Transcript:  2862
SNP Source:               Applera
Population(Allele,Count): african american(C,5|T,31)   caucasian(C,6|T,34)   total(C,11|T,65)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(C,2|T,3)      total(C,2|T,3) ;no_pop(C,-|T,-)   no_pop(T,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1392, None   



Gene Number:                 269
Celera Gene:                 hCG91953 - 107000109461405
Celera Transcript:           hCT83249 - 107000109461406
Public Transcript Accession: NM_007147
Celera Protein:              hCP201423 - 197000069407831
Public Protein Accession:    NP_009078
Gene Symbol:                 ZNF175
Protein Name:                zinc finger protein 175;OTK18
Celera Genomic Axis:         GA_x5YUV32VY4T(1432828..1451337)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:696):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCGRCCATTTAGCTTCTGTTGTTAAGTGGATCTAAGCYTATGTCGCTTACT
GGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGGKGAGTGATGAGGGGCTTGTTGGGGGTGGG
GGTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTC
AYAGCCCAGTACGACTCTCCRCMGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGAC
CGAGAGTAGAAGCCCAGAGTGGAGATGCCTGCTGATGTGAATTTATCCCAGAAGCCTCAGGTCCTGGGTCCAGAGAAGCAGGATGGATCTTGCGAGGCAT
CAGTGTCATTTGAGGACGTGACCGTGGACTTCAGCAGGGAGGAGTGGCAGCAACTGGACCCTGCCCAGAGATGCCTGTACCGGGATGTGATGCTGGAGCT
CTATAGCCATCTCTTCGCAGTGGGGTATCACATTCCCAACCCAGAGGTCATCTTCAGAATGCTAAAAGAAAAGGAGCCRCGTGTGGAGGAGGCTGAAGTC
TCACATCAGAGGTGTCAAGAAAGGGAGTTTGGGCTTGAAATCCCACAAAAGGAGATTTCTAAGAAAGCTTCATTTCAAAAGGATATGGTAGGTGAGTTCA
CAAGAGATGGTTCATGGTGTTSCATTTTAGAAGAACTGAGGCTGGATGCTGACYGCACAAAGAAAGATGAGCAAAATCAAATTCAACCCATGAGTCACAG
TGCTTTCTTCAACAAGAAAACATTGAACACAGAAAGCAAYTGTGAATATAAGGACCCTGGGAAAATGATTCGCACGAGGCCCCACCTTGCTTCTTCACAG
AAACAACCTCAGAAATGTTGCTTATTTACAGAAAGTTTGAAGCTGAACCTAGAAGTGAACGGTCAGAATGAAAGCAATGACACAGAACAGCTTGATGACG
TTGTTGGGTCTGGTCAGCTATTCAGCCATAGCTCTTCTGATGCCTGCAGCAAGAATATTCATACAGGAGAGACATTTTGCAAAGGTAACCAGTGTAGAAA
AGTCTGTGGCCATAAACAGTCACTCAAGCAACATCAAATTCATACTCAGAAGAAACCAGATGGATGTTCTGAATGTGGGGGGAGCTTCACCCAGAAGTCA
CACCTCTTTGCCCAACAGAGAATTCATAGTGTAGGAAACCTCCATGAATGTGGCAAATGTGGAAAAGCCTTCATGCCACAACTAAAACTCAGTGTATATC
TGACAGATCATACAGGTGATATACCCTGTATATGCAAGGAATGTGGGAAGGTCTTTATTCAGAGATCAGAATTGCTTACGCACCAGAAAACACACACTAG
AAAGAAGCCCWATAAATGCCATGACTGTGGAAAAGCCTTTTTCCAGATGTTATCTCTCTTCAGACATCAGAGAACTCACAGTAGAGAAAAACTCTATGAA
TGCAGTGAATGTGGCAAAGGCTTCTCCCAAAACTCAACCCTCATTATACATCAGAAAATTCATACTGGTGAGAGACAGTATGCATGCASTGAATGTGGGA
AAGCCTTTACCCAGAAGTCAACACTCAGCTTGCACCAGAGAATCCACTCAGGGCAGAAGTCCTATGTGTGTATCGAATGCGGGCAGGCCTTCATCCAGAA
GGCACACCTGATTGTCCATCAAAGAAGCCACACAGGAGAAAAACCTTATCAGTGCCACAACTGTGGGAAATCCTTCATTTCCAAGTCACAGCTTGATATA
CATCATCGAATTCATACAGGGGAGAAACCTTATGAAYGCAGTGACTGTGGAAAAACCTTCACCCAAAAGTCACACCTGAATATACACCAGAAAATTCATA
CTGGAGAAAGACACCATGTATGCAGTGAATGCGGGAAAGCCTTCAACCAGAAGTCAATACTCAGCATGCATCAGAGAATTCACACCGGAGAGAAGCCTTA
CAAATGCAGTGAATGTGGGAAAGCYTTCACTTCTAAGTCTCAATTCAAAGAGCATCAGCGAATTCACACGGGTGAGAAACCCTATGTGTGCACTGAATGT
GGGAAGGCCTTCAACGGCAGGTCAAATTTCCATAAACATCAAATAACTCACACTAGAGAGAGGCCTTTTGTCTGTTACAAATGTGGGAAGGCTTTTGTCC
AGAAATCAGAGTTGATTACCCATCAAAGAACTCACATGGGAGAGAAACCCTATGAATGCCTTGACTGTGGGAAATCGTTCAGTAAGAAACCACAACTCAA
GGTGCATCAGCGAATTCACACGGGAGAAAGACCTTATGTGTGTTCTGAATGTGGAAAGGCCTTCAACAACAGGTCAAACTTCAATAAACACCAAACAACT
CATACCAGAGACAAATCTTACAAATGCAGTTATTCTGTGAAAGGCTTTACCAAGCAATGAATTCCTAGTGCATCAGCATATTCATAAATGAAATATACTC
CGAGTTTCTTGAAGAAGAGAAMATCTTCTCAKAATCAGGTCTAATTATATGTTATTGAATTCATGCTTCAGAAAAACTCTAGGGATGCACTGCATGTGTG
AACACATGATAAAAAAGTCATGCTTTATTTTAGTGAGGGCAATTACAGAGAAAAGAGTAAGCAGAAATGTCCTTCTGAGTACTGGCCTCATTAAGGATTA
TAAATTTTCTCCCCGGGAAGAAACCCTGACTAACGCATTGAGAAAAGCCTTTCTGTAAAGAATGGTACAAGACAGGTTGTTACTCGATTATTTATAGTAA
AATATGTGGGAAATTATATCAATGATRACCCTGTTTATTGTGGGATATCAATATTTTTAAAGTGCCAACACAGTCATGATAGGACAATATTTTATGTGTG
TGTGTGCGCCTTATGTATATAAGCATATATATAATATATAAGCATATTATTATATACAGGTTGAGTATCCCTTCTCCAAAATGCCTGGGATCAGAAGCAT
TTTGGATTTCAGATACTTACAGATTTTGGAATATTTGCATTATATTTATTGGTTGAGCATYCCTAATCTGAAAATCCAAGATTAAATGCTCCAATTAGCA
TTTCCTTTGAGCGTCATGTTAGAGTTCAAAAAGTTTCAGATTTTGGGTTTTCAGATTAGGAATACCCAACCTGTATGTACGTATATTTCTGTATCTATGT
ATGTATATATATGCATATGCAGACATATGTATATGGTCTGGTCAGCATATGTGTATGTATGCDTATGTATGTATGTATGTATGCCCTCAGTGCAGTGGGG
TTTGCTGCAGAATTCACTGCATAGCAGGAGATGTAAGCAGATGAGTTATTTTTTAAGAGAATCTAATCTAATTGTTTTTATAAAAATTATTCCCTATTGA
ATATTTATATAATGAGGTTGTATCAACAATGATTAACTCCTTTATTATACATACACATGAATGTGCATTTTTGGTAAATGCATAAATGAGATTCTATAAT
GTTTACTGATCTTTATATTACAGATTTTCTCTTCTTTTAGGATTAGCTCAGCTTGCCCCCSCTTTCCATCTCCACCATCTATAGTGAGCCTCTCCATAAT
TAGTGCCAACCATTAGTCTCGTTCATATTTTTACACCAGGAGTCAACAAACTGTGGCCATTGGCCAAATATGGCCTCCCAACTGTTTTTTTAAAATAAAG
TTTTATTGGAACACAGCCATGTTCATTTGGACA

Protein Sequence    (SEQ ID NO:1393):
MPADVNLSQKPQVLGPEKQDGSCEASVSFEDVTVDFSREEWQQLDPAQRCLYRDVMLELYSHLFAVGYHIPNPEVIFRMLKEKEPRVEEAEVSHQRCQER
EFGLEIPQKEISKKASFQKDMVGEFTRDGSWCSILEELRLDADRTKKDEQNQIQPMSHSAFFNKKTLNTESNCEYKDPGKMIRTRPHLASSQKQPQKCCL
FTESLKLNLEVNGQNESNDTEQLDDVVGSGQLFSHSSSDACSKNIHTGETFCKGNQCRKVCGHKQSLKQHQIHTQKKPDGCSECGGSFTQKSHLFAQQRI
HSVGNLHECGKCGKAFMPQLKLSVYLTDHTGDIPCICKECGKVFIQRSELLTHQKTHTRKKPYKCHDCGKAFFQMLSLFRHQRTHSREKLYECSECGKGF
SQNSTLIIHQKIHTGERQYACSECGKAFTQKSTLSLHQRIHSGQKSYVCIECGQAFIQKAHLIVHQRSHTGEKPYQCHNCGKSFISKSQLDIHHRIHTGE
KPYECSDCGKTFTQKSHLNIHQKIHTGERHHVCSECGKAFNQKSILSMHQRIHTGEKPYKCSECGKAFTSKSQFKEHQRIHTGEKPYVCTECGKAFNGRS
NFHKHQITHTRERPFVCYKCGKAFVQKSELITHQRTHMGEKPYECLDCGKSFSKKPQLKVHQRIHTGERPYVCSECGKAFNNRSNFNKHQTTHTRDKSYK
CSYSVKGFTKQ


SNP Information

Context             (SEQ ID NO:12133):
ACCGGGATGTGATGCTGGAGCTCTATAGCCATCTCTTCGCAGTGGGGTATCACATTCCCAACCCAGAGGTCATCTTCAGAATGCTAAAAGAAAAGGAGCC
R
CGTGTGGAGGAGGCTGAAGTCTCACATCAGAGGTGTCAAGAAAGGGAGTTTGGGCTTGAAATCCCACAAAAGGAGATTTCTAAGAAAGCTTCATTTCAAA
Celera SNP ID:            hCV2184206
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,35)   total(A,6|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1393, 85, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1393, 85, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:12134):
GATTTCTAAGAAAGCTTCATTTCAAAAGGATATGGTAGGTGAGTTCACAAGAGATGGTTCATGGTGTTCCATTTTAGAAGAACTGAGGCTGGATGCTGAC
Y
GCACAAAGAAAGATGAGCAAAATCAAATTCAACCCATGAGTCACAGTGCTTTCTTCAACAAGAAAACATTGAACACAGAAAGCAATTGTGAATATAAGGA
Celera SNP ID:            hCV2184215
SNP Position Transcript:  854
SNP Source:               Applera
Population(Allele,Count): african american(C,29|T,1)   caucasian(C,35|T,5)   total(C,64|T,6)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 144, (R,CGC)   (C,TGC)   

SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,4)   total(C,4|T,1) 
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 144, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:12135):
TTGAGTATCCCTTCTCCAAAATGCCTGGGATCAGAAGCATTTTGGATTTCAGATACTTACAGATTTTGGAATATTTGCATTATATTTATTGGTTGAGCAT
Y
CCTAATCTGAAAATCCAAGATTAAATGCTCCAATTAGCATTTCCTTTGAGCGTCATGTTAGAGTTCAAAAAGTTTCAGATTTTGGGTTTTCAGATTAGGA
Celera SNP ID:            hCV2184216
SNP Position Transcript:  3161
SNP Source:               Celera
Population(Allele,Count): no_pop(T,1|C,13)   total(C,13|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12136):
GTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCA
Y
AGCCCAGTACGACTCTCCGCCGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCG
Celera SNP ID:            hCV27836654
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None



Context             (SEQ ID NO:12137):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCG
R
CCATTTAGCTTCTGTTGTTAAGTGGATCTAAGCCTATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAA
Celera SNP ID:            hCV27474126
SNP Position Transcript:  53
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(G,511|A,948)   total(G,511|A,948)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12138):
AGGGAGTTTGGGCTTGAAATCCCACAAAAGGAGATTTCTAAGAAAGCTTCATTTCAAAAGGATATGGTAGGTGAGTTCACAAGAGATGGTTCATGGTGTT
S
CATTTTAGAAGAACTGAGGCTGGATGCTGACCGCACAAAGAAAGATGAGCAAAATCAAATTCAACCCATGAGTCACAGTGCTTTCTTCAACAAGAAAACA
Celera SNP ID:            hCV25628533
SNP Position Transcript:  822
SNP Source:               Applera
Population(Allele,Count): african american(C,22|G,6)   caucasian(C,39|G,1)   total(C,61|G,7)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 133, (S,TCC)   (C,TGC)   



Context             (SEQ ID NO:12139):
GGCTGGATGCTGACCGCACAAAGAAAGATGAGCAAAATCAAATTCAACCCATGAGTCACAGTGCTTTCTTCAACAAGAAAACATTGAACACAGAAAGCAA
Y
TGTGAATATAAGGACCCTGGGAAAATGATTCGCACGAGGCCCCACCTTGCTTCTTCACAGAAACAACCTCAGAAATGTTGCTTATTTACAGAAAGTTTGA
Celera SNP ID:            hCV25628534
SNP Position Transcript:  940
SNP Source:               Applera
Population(Allele,Count): african american(C,3|T,29)   caucasian(C,9|T,31)   total(C,12|T,60)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1393, 172, (N,AAC)   (N,AAT)   



Context             (SEQ ID NO:12140):
GTGAATGCGGGAAAGCCTTCAACCAGAAGTCAATACTCAGCATGCATCAGAGAATTCACACCGGAGAGAAGCCTTACAAATGCAGTGAATGTGGGAAAGC
Y
TTCACTTCTAAGTCTCAATTCAAAGAGCATCAGCGAATTCACACGGGTGAGAAACCCTATGTGTGCACTGAATGTGGGAAGGCCTTCAACGGCAGGTCAA
Celera SNP ID:            hCV25628542
SNP Position Transcript:  2125
SNP Source:               Applera
Population(Allele,Count): african american(C,38)   caucasian(C,39|T,1)   total(C,77|T,1)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1393, 567, (A,GCC)   (A,GCT)   



Context             (SEQ ID NO:12141):
TACAGGTGATATACCCTGTATATGCAAGGAATGTGGGAAGGTCTTTATTCAGAGATCAGAATTGCTTACGCACCAGAAAACACACACTAGAAAGAAGCCC
W
ATAAATGCCATGACTGTGGAAAAGCCTTTTTCCAGATGTTATCTCTCTTCAGACATCAGAGAACTCACAGTAGAGAAAAACTCTATGAATGCAGTGAATG
Celera SNP ID:            hCV25628535
SNP Position Transcript:  1511
SNP Source:               Applera
Population(Allele,Count): african american(A,1|T,37)   caucasian(A,1|T,37)   total(A,2|T,74)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 363, (N,AAT)   (Y,TAT)   



Context             (SEQ ID NO:12142):
CTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCATAGCCCAGTACGACTCTCC
R
CCGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCGAGAGTAGAAGCCCAGAGTG
Celera SNP ID:            hCV27848265
SNP Position Transcript:  321
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None



Context             (SEQ ID NO:12143):
ATTCTGTGAAAGGCTTTACCAAGCAATGAATTCCTAGTGCATCAGCATATTCATAAATGAAATATACTCCGAGTTTCTTGAAGAAGAGAAAATCTTCTCA
K
AATCAGGTCTAATTATATGTTATTGAATTCATGCTTCAGAAAAACTCTAGGGATGCACTGCATGTGTGAACACATGATAAAAAAGTCATGCTTTATTTTA
Celera SNP ID:            hCV25766017
SNP Position Transcript:  2632
SNP Source:               Applera
Population(Allele,Count): african american(G,36)   caucasian(G,36|T,2)   total(G,72|T,2)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None



Context             (SEQ ID NO:12144):
AAACTCTATGAATGCAGTGAATGTGGCAAAGGCTTCTCCCAAAACTCAACCCTCATTATACATCAGAAAATTCATACTGGTGAGAGACAGTATGCATGCA
S
TGAATGTGGGAAAGCCTTTACCCAGAAGTCAACACTCAGCTTGCACCAGAGAATCCACTCAGGGCAGAAGTCCTATGTGTGTATCGAATGCGGGCAGGCC
Celera SNP ID:            hCV29188817
SNP Position Transcript:  1689
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 422, (T,ACT)   (S,AGT)      



Context             (SEQ ID NO:12145):
CGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCATAGCCCAGTACGACTCTCCGC
M
GTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCGAGAGTAGAAGCCCAGAGTGGA
Celera SNP ID:            hCV2184192
SNP Position Transcript:  323
SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,27)   caucasian(A,9|C,31)   total(A,18|C,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,7)      total(A,1|C,7) ;no_pop(A,-|C,-)   JBIC-allele(C,474|A,1021)   total(A,1021|C,474)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12146):
TAAGTGGATCTAAGCCTATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGG
K
GAGTGATGAGGGGCTTGTTGGGGGTGGGGGTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCA
Celera SNP ID:            hCV27476973
SNP Position Transcript:  172
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,44|G,1447)   total(G,1447|T,44) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12147):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCGGCCATTTAGCTTCTGTTGTTAAGTGGATCTAAGC
Y
TATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGGGGAGTGATGAGGGGCT
Celera SNP ID:            hCV27476974
SNP Position Transcript:  87
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12148):
TACCCAACCTGTATGTACGTATATTTCTGTATCTATGTATGTATATATATGCATATGCAGACATATGTATATGGTCTGGTCAGCATATGTGTATGTATGC
D
TATGTATGTATGTATGTATGCCCTCAGTGCAGTGGGGTTTGCTGCAGAATTCACTGCATAGCAGGAGATGTAAGCAGATGAGTTATTTTTTAAGAGAATC
Celera SNP ID:            hCV26639616
SNP Position Transcript:  3363
SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,1|T,1|-,9)   total(G,1|A,1|-,9|T,1) 
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12149):
AAATGCAGTTATTCTGTGAAAGGCTTTACCAAGCAATGAATTCCTAGTGCATCAGCATATTCATAAATGAAATATACTCCGAGTTTCTTGAAGAAGAGAA
M
ATCTTCTCAGAATCAGGTCTAATTATATGTTATTGAATTCATGCTTCAGAAAAACTCTAGGGATGCACTGCATGTGTGAACACATGATAAAAAAGTCATG
Celera SNP ID:            hCV7606826
SNP Position Transcript:  2622
SNP Source:               Applera
Population(Allele,Count): african american(A,32)   caucasian(A,35|C,5)   total(A,67|C,5)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(A,-|C,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12150):
TGACTAACGCATTGAGAAAAGCCTTTCTGTAAAGAATGGTACAAGACAGGTTGTTACTCGATTATTTATAGTAAAATATGTGGGAAATTATATCAATGAT
R
ACCCTGTTTATTGTGGGATATCAATATTTTTAAAGTGCCAACACAGTCATGATAGGACAATATTTTATGTGTGTGTGTGCGCCTTATGTATATAAGCATA
Celera SNP ID:            hCV7606827
SNP Position Transcript:  2927
SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(G,1|A,12)      total(G,1|A,12) ;no_pop(A,-|G,-)   
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None   



Context             (SEQ ID NO:12151):
AGAAAAACCTTATCAGTGCCACAACTGTGGGAAATCCTTCATTTCCAAGTCACAGCTTGATATACATCATCGAATTCATACAGGGGAGAAACCTTATGAA
Y
GCAGTGACTGTGGAAAAACCTTCACCCAAAAGTCACACCTGAATATACACCAGAAAATTCATACTGGAGAAAGACACCATGTATGCAGTGAATGCGGGAA
Celera SNP ID:            hCV27478147
SNP Position Transcript:  1937
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1393, 505, (R,CGC)   (C,TGC)      



Context             (SEQ ID NO:12152):
ATGTGCATTTTTGGTAAATGCATAAATGAGATTCTATAATGTTTACTGATCTTTATATTACAGATTTTCTCTTCTTTTAGGATTAGCTCAGCTTGCCCCC
S
CTTTCCATCTCCACCATCTATAGTGAGCCTCTCCATAATTAGTGCCAACCATTAGTCTCGTTCATATTTTTACACCAGGAGTCAACAAACTGTGGCCATT
Celera SNP ID:            hCV7606828
SNP Position Transcript:  3661
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,28|G,8)   total(C,64|G,10)
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 UTR 3
Protein Coding:           SEQ ID NO:1393, None   



Gene Number:                 269
Celera Gene:                 hCG91953 - 107000109461405
Celera Transcript:           hCT1953910 - 107000109461415
Public Transcript Accession: NM_007147
Celera Protein:              hCP1764300 - 197000069407832
Public Protein Accession:    NP_009078
Gene Symbol:                 ZNF175
Protein Name:                zinc finger protein 175;OTK18
Celera Genomic Axis:         GA_x5YUV32VY4T(1432828..1451338)
Chromosome:                  Chr19
OMIM number:                 
OMIM Information:            


Transcript Sequence (SEQ ID NO:697):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCGRCCATTTAGCTTCTGTTGTTAAGTGGATCTAAGCYTATGTCGCTTACT
GGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGGKGAGTGATGAGGGGCTTGTTGGGGGTGGG
GGTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTC
AYAGCCCAGTACGACTCTCCRCMGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGAC
CGAGAGTAGAAGCCCAGAGTGGAGATGCCTGCTGATGTGAATTTATCCCAGAAGCCTCAGGTCCTGGGTCCAGAGAAGCAGGATGGATCTTGCGAGGCAT
CAGTGTCATTTGAGGACGTGACCGTGGACTTCAGCAGGGAGGAGTGGCAGCAACTGGACCCTGCCCAGAGATGCCTGTACCGGGATGTGATGCTGGAGCT
CTATAGCCATCTCTTCGCAGTGGGGTATCACATTCCCAACCCAGAGGTCATCTTCAGAATGCTAAAAGAAAAGGAGCCRCGTGTGGAGGAGGCTGAAGTC
TCACATCAGAGGTGTCAAGGATTAGCTCAGCTTGCCCCCSCTTTCCATCTCCACCATCTATAGTGAGCCTCTCCATAATTAGTGCCAACCATTAGTCTCG
TTCATATTTTTACACCAGGAGTCAACAAACTGTGGCCATTGGCCAAATATGGCCTCCCAACTGTTTTTTTAAAATAAAGTTTTATTGGAACACAGCCATG
TTCATTTGGACAT

Protein Sequence    (SEQ ID NO:1394):
MPADVNLSQKPQVLGPEKQDGSCEASVSFEDVTVDFSREEWQQLDPAQRCLYRDVMLELYSHLFAVGYHIPNPEVIFRMLKEKEPRVEEAEVSHQRCQGL
AQLAPPFHLHHL


SNP Information

Context             (SEQ ID NO:12153):
CGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCATAGCCCAGTACGACTCTCCGC
M
GTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCGAGAGTAGAAGCCCAGAGTGGA
Celera SNP ID:            hCV2184192
SNP Position Transcript:  323
SNP Source:               Applera
Population(Allele,Count): african american(A,9|C,27)   caucasian(A,9|C,31)   total(A,18|C,58)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None

SNP Source:               Celera;dbSNP
Population(Allele,Count): no_pop(A,1|C,7)      total(A,1|C,7) ;no_pop(A,-|C,-)   JBIC-allele(C,474|A,1021)   total(A,1021|C,474)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None   



Context             (SEQ ID NO:12154):
TAAGTGGATCTAAGCCTATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGG
K
GAGTGATGAGGGGCTTGTTGGGGGTGGGGGTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCA
Celera SNP ID:            hCV27476973
SNP Position Transcript:  172
SNP Source:               dbSNP
Population(Allele,Count): JBIC-allele(T,44|G,1447)   total(G,1447|T,44) 
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None   



Context             (SEQ ID NO:12155):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCGGCCATTTAGCTTCTGTTGTTAAGTGGATCTAAGC
Y
TATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAAGGGGCGGCTGGCTTTGGGGGAGTGATGAGGGGCT
Celera SNP ID:            hCV27476974
SNP Position Transcript:  87
SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|T,-)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None   



Context             (SEQ ID NO:12156):
ACCGGGATGTGATGCTGGAGCTCTATAGCCATCTCTTCGCAGTGGGGTATCACATTCCCAACCCAGAGGTCATCTTCAGAATGCTAAAAGAAAAGGAGCC
R
CGTGTGGAGGAGGCTGAAGTCTCACATCAGAGGTGTCAAGGATTAGCTCAGCTTGCCCCCCCTTTCCATCTCCACCATCTATAGTGAGCCTCTCCATAAT
Celera SNP ID:            hCV2184206
SNP Position Transcript:  679
SNP Source:               Applera
Population(Allele,Count): african american(A,1|G,37)   caucasian(A,5|G,35)   total(A,6|G,72)
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1394, 85, (P,CCA)   (P,CCG)   

SNP Source:               Celera
Population(Allele,Count): no_pop(A,1|G,5)   total(G,5|A,1) 
SNP Type:                 SILENT MUTATION
Protein Coding:           SEQ ID NO:1394, 85, (P,CCA)   (P,CCG)      



Context             (SEQ ID NO:12157):
GTGCGTGATAAAGGGATTTCTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCA
Y
AGCCCAGTACGACTCTCCGCCGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCG
Celera SNP ID:            hCV27836654
SNP Position Transcript:  302
SNP Source:               Applera
Population(Allele,Count): african american(C,1|T,37)   caucasian(T,40)   total(C,1|T,77)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None



Context             (SEQ ID NO:12158):
CCTACGGAAATCCTAACGGGAATGTAACCCAAACCGGAAGTGGCCTAGAGCG
R
CCATTTAGCTTCTGTTGTTAAGTGGATCTAAGCCTATGTCGCTTACTGGACGCTGAAGTGATTGGGAATATTAGCAGTGGGGGTTCTGTAGGGTCAGGAA
Celera SNP ID:            hCV27474126
SNP Position Transcript:  53
SNP Source:               dbSNP
Population(Allele,Count): no_pop(G,-|A,-)   JBIC-allele(G,511|A,948)   total(G,511|A,948)    
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None   



Context             (SEQ ID NO:12159):
CTCGGCTGAAGACGAGGCTGTGAGGCTTCTGCAGAACCCCCAGGTCAGGCCACATCATTGAGGCTGCAGGATCTCTCTTCATAGCCCAGTACGACTCTCC
R
CCGTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCTGGCTCCTGGGAAAAGTGGAGTTGTCAGCAAGAGAGACCGAGAGTAGAAGCCCAGAGTG
Celera SNP ID:            hCV27848265
SNP Position Transcript:  321
SNP Source:               Applera
Population(Allele,Count): african american(A,2|G,34)   caucasian(A,1|G,39)   total(A,3|G,73)
SNP Type:                 UTR 5
Protein Coding:           SEQ ID NO:1394, None



Context             (SEQ ID NO:12160):
CCCAGAGGTCATCTTCAGAATGCTAAAAGAAAAGGAGCCGCGTGTGGAGGAGGCTGAAGTCTCACATCAGAGGTGTCAAGGATTAGCTCAGCTTGCCCCC
S
CTTTCCATCTCCACCATCTATAGTGAGCCTCTCCATAATTAGTGCCAACCATTAGTCTCGTTCATATTTTTACACCAGGAGTCAACAAACTGTGGCCATT
Celera SNP ID:            hCV7606828
SNP Position Transcript:  740
SNP Source:               Applera
Population(Allele,Count): african american(C,36|G,2)   caucasian(C,28|G,8)   total(C,64|G,10)
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1394, 106, (P,CCT)   (A,GCT)   

SNP Source:               dbSNP
Population(Allele,Count): no_pop(C,-|G,-)    
SNP Type:                 MISSENSE MUTATION
Protein Coding:           SEQ ID NO:1394, 106, (P,CCT)   (A,GCT)      
