Aldosterone Synthase (CYP11B2)

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
CHAK00370 1 163 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A D13752 A 0.95 G 0.05 GTCCAGAGCCAGTTCTCCCATGACGTGATATGTTTCCAGAGCAGGTTCCTGGGTGAGATA*AAGGATTTGGGCTGAACAGGGTGGAGGGAGCATTGGAATGGCACTCAGGGCAAAGGCAGA
CHAK00371 3 20 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 C 0.05 GATGGGATACGGGTCAGGGCCTGTGTCTTGCTGGGGCGGCCTCACAAGCTCTGCCCTG*CCTCTGTAGGAATGGGCCTGAATGGCGCTTCAACCGATTGCGGCTGAACCCAGATGTGCT
CHAK00372 3 138 Not Confirmed Likely High Both Coding Phe Phe Synonymous 3 TTC TTT D13752 C 0.7 T 0.3 GCTGTCGCCCAAGGCCGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTT*TCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTC
CHAK00373 3 152 Confirmed Likely High Both Coding Lys Arg Nonsynonymous 2 AAG AGG D13752 A 0.7 G 0.3 CCGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGA*GAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTT
CHAK00374 3 243 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 A 0.05 CCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAGGTGTGGGCCATGC*GGAAGGTCCAGCCCCAGAGACCCTGGAGTGGCCAGGGATGGGGATGGAGGACTG
CHAK00375 4 99 Not Confirmed Likely Rare U.S. White Coding Asn Thr Nonsynonymous 2 AAC ACC D13752 A 0.95 C 0.05 TAGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTTCTGCCAGCCTGA*CTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAG
CHAK00376 4 177 Not Confirmed Likely Rare African Coding Ile Thr Nonsynonymous 2 ATC ACC D13752 T 0.95 C 0.05 AGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCTCGCTGGA*CAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGA
CHAK00377 4 250 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 A 0.05 GTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGACCC*GGCAGTGCTATGGGGAAGGGACACCATGGGGGCCCAATTTCTCCTTCTCCA
CHAK00378 5 55 Not Confirmed Likely Rare African Coding Tyr Tyr Synonymous 3 TAC TAT D13752 C 0.95 T 0.05 CAAGATCTGAGGGCTGTCCCCTGCTCCCTGGACAGGTGACAACTGTATCCAGAAAATCTA*CAGGAACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTG
CHAK00379 5 72 Not Confirmed Likely Rare African Coding Asn Ser Nonsynonymous 2 AAC AGC D13752 A 0.95 G 0.05 CCCCTGCTCCCTGGACAGGTGACAACTGTATCCAGAAAATCTACCAGGAACTGGCCTTCA*CCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGCGGAACTGTCACT
CHAK00380 5 103 Not Confirmed Certain Low Both Coding Ala Ala Synonymous 3 GCG GCA D13752 G 0.05 A 0.95 CCAGAAAATCTACCAGGAACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGC*GAGCTCCTGTTGAAGGCGGAACTGTCACTAGAAGCCATCAAGGCCAACTCTATGGAACTC
CHAK00381 5 121 Not Confirmed Certain Medium African Coding Ala Ala Synonymous 3 GCG GCA D13752 G 0.8 A 0.2 ACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGC*GAACTGTCACTAGAAGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGAC
CHAK00382 6 91 Confirmed Certain High African Coding Ile Thr Nonsynonymous 2 ATC ACC D13752 T 0.5 C 0.5 CAGCGTTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCGACGTGCAGCAGA*CCTGCGCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAAC
CHAK00383 6 195 Not Confirmed Likely Medium Both Coding Arg Arg Synonymous 1 AGG CGG D13752 A 0.75 C 0.25 CATCCCCAGAAGGCAACCACCGAGCTGCCCTTGCTGCGGGCGGCCCTCAAGGAGACCTTG*GGTGGGTGCTGGCTGAGGCCTCCCTGTGGCCCTGGCCCCCTGCTGGAGAGCAGCCCCCAC
CHAK00384 7 52 Confirmed Likely Low Both Coding Leu Leu Synonymous 1 TTG CTG D13752 T 0.95 C 0.05 CAGCTGAGGACCCTTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTT*TGGAGCGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGA
CHAK00385 7 56 Not Confirmed Likely Rare African Coding Glu Val Nonsynonymous 2 GAG GTG D13752 A 0.95 T 0.05 TGAGGACCCTTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGG*GCGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGA
CHAK00386 7 65 Confirmed Likely Low U.S. White Coding Val Ala Nonsynonymous 2 GTG GCG D13752 T 0.9 C 0.1 TTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGGAGCGAGTGG*GAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGAGCCCCACAC
CHAK00387 7 78 Not Confirmed Certain Medium African Coding Leu Leu Synonymous 3 TTG TTA D13752 G 0.85 A 0.15 CCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGGAGCGAGTGGTGAGCTCAGACTT*GTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGAGCCCCACACCCCTCGAGCTGAG
CHAK00388 8 18 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 C 0.95 T 0.05 CCACACCCCTCGAGCTGAGAACCTCCCTCCCCAGTCATTCCCTGATCCCTGCTCTG*ACCGTCCGCAGACATTGGTACAGGTTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGT
CHAK00389 8 37 Not Confirmed Likely Rare African Coding Val Glu Nonsynonymous 2 GTA GAA D13752 T 0.95 A 0.05 TGAGAACCTCCCTCCCCAGTCATTCCCTGATCCCTGCTCTGCACCGTCCGCAGACATTGG*ACAGGTTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGTTCCCGAGGCCTGAGCGGTA
CHAK00390 8 132 Not Confirmed Likely Rare U.S. White Coding Gly Ser Nonsynonymous 1 GGC AGC D13752 G 0.95 A 0.05 GCCTTGTTCCCGAGGCCTGAGCGGTATAATCCCCAGCGCTGGCTAGACATCAGGGGCTCC*GCAGGAACTTCCACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTCGGGCGGCGCC
CHAK00391 8 182 Not Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTC CTT D13752 C 0.95 T 0.05 CAGGGGCTCCGGCAGGAACTTCCACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCT*GGGCGGCGCCTGGCAGAGGCAGAGATGCTGCTGCTGCTGCACCACGTAAGCAGGCCTGGG
CHAK00392 9 90 Not Confirmed Likely Rare U.S. White Coding Phe Val Nonsynonymous 1 TTC GTC D13752 T 0.95 G 0.05 GTGCTGAAGCACTTCCTGGTGGAGACACTAACTCAAGAGGACATAAAGATGGTCTACAGC*TCATATTGAGGCCTGGCACGTCCCCCCTCCTCACTTTCAGAGCGATTAACTAGTCTTGCA
CHAK00393 9 224 Confirmed Likely Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D13752 G 0.9 A 0.1 TCCCAGCCTGGCCACCAGCTTCCCTCTGCCTGACCCCAGGCCACCTGTCTTCTCTCCCAC*TGCACAGCTTCCTGAGTCACCCCTCTGTCCAGCCAGCTCCTGCACAAATGGAACTCCCCA
CHAK00944 N/A -344 Circulation 1998 Feb 17;97(6):569-575 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A C N/A T N/A TTGATCAATTTTGCAATGAACTAAATCTGTGGTATAAAAATAAAGTCTATTAAAAGAATCCAAGGC*CCCTCTCATCTCACGATAAGATAAAGTCCCCATCCATTTTACTCCTCTCAGCCCTGGAGAAAGGA 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.