Prostaglandin I2 Synthase (PTGIS)

SNP Number Exon Position In Exon Confirmation Call Quality Heterozygosity Class Sample Detected Location In gene Amino Acid 1 Amino Acid 2 Type of Amino Acid Change Codon Position Codon 1 Codon 2 GenBank Accession # Allele 1 Allele 1 Frequency Allele 2 Allele 2 Frequency Flanking Sequence
CHAK00659 1 196 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A D83393 C 0.95 A 0.05 TTCCCCAAAAGTCCTCTCCCATCTTCCCCATCCCTCTTCCCTCCCCGCATATAATCTCTT*CTTCCTGTAAATCCTCTCCCTCTCCCCTCCCTTCCATCACCCCCCAGTCCACCACATCCC
CHAK00660 1 396 Confirmed Certain Medium Both Promoter N/A N/A N/A 0 N/A N/A D83393 T 0.75 G 0.25 TCCTTCTCCCCTCCCCTCCCTCCCACATTTTCCCCCAGGCCTGAGCTGCGGGGAGCAGGG*TTCTCCCAGAGCGCCCCGGTCCGACCCCTGCGGACCTCGGAGGGCCCCATCCCCCACCCC
CHAK00661 1 419 Not Confirmed Likely Low African Promoter N/A N/A N/A 0 N/A N/A D83393 G 0.95 A 0.05 CACATTTTCCCCCAGGCCTGAGCTGCGGGGAGCAGGGTTTCTCCCAGAGCGCCCCGGTCC*ACCCCTGCGGACCTCGGAGGGCCCCATCCCCCACCCCCCCCACCCCGCCCCAAAGCGGGC
CHAK00662 1 568 Not Confirmed Likely Rare U.S. White 5' UTR N/A N/A N/A 0 N/A N/A D83393 C 0.95 T 0.05 GGGGCGCGGCGGGTGGGGGCGGGGAACTTTACCTGGGAGTGGGCCAGGCCGCCAGCCCCG*CAGCCCCGCCAGCCCCGCCAGCCCCGCGATGGCTTGGGCCGCGCTCCTCGGCCTCCTGGT
CHAK00663 1 636 Not Confirmed Likely Rare African Coding Leu Leu Synonymous 1 CTG TTG D83393 C 0.95 T 0.05 GCCAGCCCCGCGATGGCTTGGGCCGCGCTCCTCGGCCTCCTGGTCGCACTGTTGCTGCTG*TGCTACTGAGCCGCCGCCGCACGCGGTGAGTGTCCTGCTCCGCTCGGCCCCGCCAGACAA
CHAK00664 10 149 Not Confirmed Likely Rare U.S. White Coding Pro Ser Nonsynonymous 1 CCA TCA D83393 C 0.95 T 0.05 AGGTACGGCTTCGGTCTGATGCAGCCGGAACACGACGTGCCCGTCCGCTACCGCATCCGC*CATGACACAGGGAGCAGATGGATCCACGTGCTCGCCTCTGCCCAGCCTGCCCCAGCCTGC
CHAK00665 10 270 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.8 C 0.2 CCCAGCCTCCCAGCTTTCTGTGTGCACAGTTGGCCCGGGTGCAGGTGCTAGCATTACCAC*TCCCTGCTTTTCTCCCAGAAGGCTGGGTCCAGGGGAGGGAAAAGCTAAGAGGGTGAACAA
CHAK00666 10 308 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.95 T 0.05 GTGCAGGTGCTAGCATTACCACTTCCCTGCTTTTCTCCCAGAAGGCTGGGTCCAGGGGAG*GAAAAGCTAAGAGGGTGAACAAAGAAAAGACATTGAAAGCTCTATGGATTATCCACTGCA
CHAK00667 10 400 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 T 0.05 ATTGAAAGCTCTATGGATTATCCACTGCAAAGTTTTCTTTCCAAAATCAGGCTTTGTCTG*TCCCAATTCACCTCGTTACTCTCACCTCGTGATATCCACAAATGCTATTCAGATAAGGCA
CHAK00668 10 454 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.95 C 0.05 TGTCTGCTCCCAATTCACCTCGTTACTCTCACCTCGTGATATCCACAAATGCTATTCAGA*AAGGCAGAACTAGGAGTCTTCACTGCTCTGCCCCCAACTCCCGGAGGTGTCACCTTCCTA
CHAK00669 10 573 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.95 T 0.05 TAGTTCTTATGAGCTAGCATGGCCCGGGSCTTATCCAGTTCAAAGCGGATGCTGGCCACA*AAAGGCCACTCAGGATGTCCTTTGTGTCCATTGATGTCATTCAGCAGTCAGTCCCCCAAT
CHAK00670 10 578 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.95 A 0.05 CTTATGAGCTAGCATGGCCCGGGSCTTATCCAGTTCAAAGCGGATGCTGGCCACAGAAAG*CCACTCAGGATGTCCTTTGTGTCCATTGATGTCATTCAGCAGTCAGTCCCCCAATAATCC
CHAK00671 10 948 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 A 0.05 AGGAAGACACAGCCCAGACAAGATGGCTGGAAGGAGCCAGCCAGGACTCCTTAGACTGAT*AAGCCAAAAAAGAAGGTGCCGATTTCATGCATTCTAGTGCAGAAGCCCCAACTGTGATCA
CHAK00672 10 1255 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 T 0.05 GCAGGACATGTGCTCTCGGCTTCACCAGGGTTCTGACCGGGTCTGCTTCTGCATTCACAG*GCCTCCTGGACCTGAAGGCATCTGAGTGTGAGACCCTGTTCTAACTCTTAGAAGTGACAT
CHAK00673 10 1500 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.85 T 0.15 GAGGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGG*GAAACCCCGTCTCTACTAAACATAAAAAAATTAGTCAGGTGTGGCGGTGCCGTGCCTGTA
CHAK00674 10 1505 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.75 T 0.25 CGAGGTGGGCGGATCACTTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAA*CCCGTCTCTACTAAACATAAAAAAATTAGTCAGGTGTGGCGGTGCCGTGCCTGTAATCCC
CHAK00675 10 1521 Not Confirmed Likely High Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.55 A 0.45 CTTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAA*ATAAAAAAATTAGTCAGGTGTGGCGGTGCCGTGCCTGTAATCCCAGCTATTCAGGAGGCT
CHAK00676 10 1525 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.4 C 0.6 AGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAACATA*AAAAATTAGTCAGGTGTGGCGGTGCCGTGCCTGTAATCCCAGCTATTCAGGAGGCTGAGG
CHAK00677 10 1544 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.75 C 0.25 AGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAACATAAAAAAATTAGTCAGGTGTG*CGGTGCCGTGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACCAGAATTGCTTGAACC
CHAK00678 10 1760 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.95 G 0.05 TAAAATAAAAAACAGCTTAAAGAGAAAAATGGCCTGCAAACCTTTTTTATGATGCTATTT*TATTAATATAAAGTCCTGTTTATTGAGACCCTTTAAATGCCTGCGAGAGACCCTACAGAC
CHAK00679 10 1776 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 T 0.05 TTAAAGAGAAAAATGGCCTGCAAACCTTTTTTATGATGCTATTTTTATTAATATAAAGTC*TGTTTATTGAGACCCTTTAAATGCCTGCGAGAGACCCTACAGACAGTATGTCTACTCCTC
CHAK00680 10 1852 Not Confirmed Certain Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.95 G 0.05 TTTAAATGCCTGCGAGAGACCCTACAGACAGTATGTCTACTCCTCACAGCATCTCTATGA*GAGAAGGAGGGTTGTGCCCACTTCATAGATGAGAAAACTGAGAGGTGAGGTGACTTGCCT
CHAK00681 10 2474 Not Confirmed Certain Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.9 T 0.1 GGAAGGGAAGGAAGCAAGCCGGCAGAAATAGCTATGGAAGGTCTTGCGCAGGCTGCAACC*TGGTGTGCTGGGCGAAAACCCTTATGACTCCCCCCTTCCAAATCAGGCTGGGTTGTCACT
CHAK00682 10 2636 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.65 C 0.35 CTTTAAAGGTCGCACCTCCTTGGAACCACAGTCATTAGTGAATTACACTCAAGGAAAAGA*GTGCTCCCACCAGGCAGCTCCAGCTGTTACCTGAGATACTGAAGTGCAGCTCAGGAGACG
CHAK00683 10 2967 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 T 0.05 TTAAGCTCAGTGGCAAGAATGAAATACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT*GCTCTGCTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTC
CHAK00684 10 2974 Not Confirmed Likely High Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.7 T 0.3 CAGTGGCAAGAATGAAATACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTG*TGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGTGTT
CHAK00685 10 3009 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.9 C 0.1 TTTTTTGAGATGGAGTCTCGCTCTGCTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGC*CACTGCAAGCTCTGCCTCCCGTGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCT
CHAK00686 10 3022 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.9 C 0.1 AGTCTCGCTCTGCTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTC*GCCTCCCGTGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCA
CHAK00688 10 3082 Not Confirmed Likely Low Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.9 G 0.1 TGCCTCCCGTGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC*CCCGCCACCACACCCGGCTAATTTTTGGATTTTTAGTAGAGATGGGATTTCACCGTATTA
CHAK00689 10 3139 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.75 G 0.25 GGCACCCGCCACCACACCCGGCTAATTTTTGGATTTTTAGTAGAGATGGGATTTCACCGT*TTAGCCAGGATGGTCTTGATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGT
CHAK00690 10 3140 Not Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.8 C 0.2 GCACCCGCCACCACACCCGGCTAATTTTTGGATTTTTAGTAGAGATGGGATTTCACCGTA*TAGCCAGGATGGTCTTGATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTG
CHAK00691 10 3186 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.9 T 0.1 GGGATTTCACCGTATTAGCCAGGATGGTCTTGATCTCCTGAGCTCGTGATCTGCCCGCCT*GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGAATAAAATA
CHAK00692 10 3214 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D83402 T 0.9 C 0.1 CTTGATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG*GTGAGCCACCGCGCCCAGCCAAGAATAAAATACTCTTAAGTTGATCTAATGAAGTGTTTC
CHAK00693 10 3217 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.9 A 0.1 GATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT*AGCCACCGCGCCCAGCCAAGAATAAAATACTCTTAAGTTGATCTAATGAAGTGTTTCCTT
CHAK00694 10 3244 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.95 C 0.05 CTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGAATAAA*TACTCTTAAGTTGATCTAATGAAGTGTTTCCTTACCATTGTGATTATTGTTACTATTATT
CHAK00695 10 3339 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.95 T 0.05 CCATTGTGATTATTGTTACTATTATTTGCTATATTTTAATATTGTTGTTTACCAAATATT*TCCTTTAAACAGACTCGCTTTTTAAACTTTTTTTTTTTTTTTTGAGACGGAGTTTCACGC
CHAK00696 10 3419 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.9 A 0.1 TTTTAAACTTTTTTTTTTTTTTTTGAGACGGAGTTTCACGCTTATTGCCCAGGCTGGAGT*CAATGGCACGATCTCAGCTCACCACAACCTCCACCTCCTGGGTTTAAGCAATGCTTCTGC
CHAK00697 10 3540 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.95 T 0.05 CTCAGCTTCCCAAGTAGCTGAGATTACAGGCGCACACCACCACGGCCAACTGGTTTTTGT*TTTTTAGTAGAGACGGGGTTCCCCCATGTTGGTCAGGCTGGTCTCGAAACTCCTGACCCT
CHAK00698 10 3651 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.9 A 0.1 TCCTGACCCTCGTGATTTGCCTGCCTGGGGCCTCCCAAAGTGCTAGGATTACAGGCATGA*CCACCATGCCCGGCCTAAACTTTGTTTTTAAAATGAACTTTTTTTCCCCCCAATTGCTGC
CHAK00699 10 3663 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A D83402 G 0.95 A 0.05 TGATTTGCCTGCCTGGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCC*GCCTAAACTTTGTTTTTAAAATGAACTTTTTTTCCCCCCAATTGCTGCCAATAGTGGATA
CHAK00700 10 3774 Not Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.9 T 0.1 ATAGTGGATAACATGTATCACTCACTGCCAAAAATAGAAAGTGACCATGAAAAATAAATT*GCTGGGGAAGGGGGCTCCATGCTGGTGTGGCCAAGGCTGAGAGCTCTCTCTTCTCTGTTA
CHAK00701 10 3840 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D83402 C 0.8 T 0.2 GGAAGGGGGCTCCATGCTGGTGTGGCCAAGGCTGAGAGCTCTCTCTTCTCTGTTACAAAA*GAGATAAGCAAGTRTTAGAATTGCCTTAAGGCCACACTGGCATCTCCCTGACCTTCTCCA
CHAK00702 10 4074 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D83402 A 0.95 G 0.05 TGGAGAAACAGGCTCTGAGATTTCACAGGTCTTGCCCAAAGTCATTGATTTTAATGATTA*AAAGAATAAACACAGTGTTTCCTGAGTAGCAGTGATTGTTATGCCTTGCTATTTTAATAA
CHAK00703 3 69 Not Confirmed Likely Rare African Coding Val Val Synonymous 3 GTG GTT D83395 G 0.95 T 0.05 GATACTGGTTGGGGGCAGGTATGTCACCGTTCTCCTGGACCCACACTCCTACGACGCGGT*GTGTGGGAGCCTCGCACCAGGCTCGACTTCCATGCCTATGCCATCTTCCTCATGGAGAGG
CHAK00704 3 165 Not Confirmed Likely Rare African Coding Ser Arg Nonsynonymous 3 AGT AGA D83395 T 0.95 A 0.05 CTATGCCATCTTCCTCATGGAGAGGATTTTTGATGTGCAGCTTCCACATTACAGCCCCAG*GATGAAAAGGCCAGGATGAAACTGTGAGTGGCT
CHAK00705 4 93 Not Confirmed Likely Rare African Coding Glu Ala Nonsynonymous 2 GAA GCA D83396 A 0.95 C 0.05 AGGCACTCACAGAAGCCATGTATACCAACCTCCATGCAGTGCTGTTGGGCGATGCTACAG*AGCAGGCAGTGGCTGGCACGAGATGGGTCTCCTCGACTTCTCCTACAGCTTCCTGCTCAG
CHAK00706 4 143 Not Confirmed Likely Rare U.S. White Coding Phe Leu Nonsynonymous 1 TTC CTC D83396 T 0.95 C 0.05 GATGCTACAGAAGCAGGCAGTGGCTGGCACGAGATGGGTCTCCTCGACTTCTCCTACAGC*TCCTGCTCAGGTGAGGCTCT
CHAK00707 5 79 Not Confirmed Likely Rare African Coding Arg Arg Synonymous 3 CGC CGT D83397 C 0.95 T 0.05 CCTGACTCTTTACGGAATTGAGGCGCTGCCACGCACCCATGAAAGCCAGGCCCAGGACCG*GTCCACTCAGCTGATGTCTTCCACACCTTTCGCCAGCTCGACCGGCTGCTCCCCAAACTG
CHAK00708 6 35 Confirmed Likely Rare African Coding Arg Cys Nonsynonymous 1 CGC TGC D83398 C 0.95 T 0.05 TGCCCTGCAGGGGACAAGGACCACATGTGCAGTGTCAAAAGT*GCCTGTGGAAGCTGCTATCCCCAGCCAGGCTGGCCAGGCGGGCCCACCGGAGCAAATGGCTGGAGAGTTACCTGCTGC
CHAK00709 6 52 Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTA CTG D83398 A 0.95 G 0.05 TGCCCTGCAGGGGACAAGGACCACATGTGCAGTGTCAAAAGTCGCCTGTGGAAGCTGCT*TCCCCAGCCAGGCTGGCCAGGCGGGCCCACCGGAGCAAATGGCTGGAGAGTTACCTGCTGC
CHAK00710 6 97 Confirmed Likely Medium Both Coding Leu Leu Synonymous 3 CTG CTA D83398 G 0.9 A 0.1 CCTGTGGAAGCTGCTATCCCCAGCCAGGCTGGCCAGGCGGGCCCACCGGAGCAAATGGCT*GAGAGTTACCTGCTGCACCTGGAGGAGATGGGTGTGTCAGAGGAGATGCAGGCACGGGCC
CHAK00711 8 102 Not Confirmed Certain Medium Both Coding Arg Arg Synonymous 1 AGA CGA D83400 A 0.2 C 0.8 GCTGCCCCCTTCATCACCCGCGAGGTTGTGGTGGACCTGGCCATGCCCATGGCAGACGGG*GAGAATTCAACCTGCGACGTGGTGACCGCCTCCTCCTCTTCCCCTTCCTGAGCCCCCAGA
CHAK00712 9 42 Not Confirmed Likely Rare African Coding Asp Asp Synonymous 3 GAC GAT D83401 C 0.95 T 0.05 CCTATTTCAGGTATTTAAATACAACCGATTCCTGAACCCTGA*GGATCAGAGAAGAAAGACTTTTACAAGGATGGGAAACGGCTGAAGAATTACAACATGCCCTGGGGGGCGGGGCACAAT 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.