11 Beta Hydroxylase (CYP11B1)

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
CHAK00341 1 351 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A M32863 T 0.95 C 0.05 ACCTCTGCCCTCGGTCTCTCAGGCAGATCCAGGGCCAGTTCTCCCATGACGTGATCCCTC*CGAAGGCAAGGCACCAGGCAAGATAAAAGGATTGCAGCTGAACAGGGTGGAGGGAGCATT
CHAK00342 1 525 Not Confirmed Likely Rare U.S. White Coding Pro Pro Synonymous 3 CCC CCG M32863 C 0.95 G 0.05 CCTGCAAAGGGCACAGGCACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCC*TTTGAAGCCATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGG
CHAK00343 1 542 Not Confirmed Likely Rare African Coding Arg Gln Nonsynonymous 2 CGG CAG M32863 G 0.95 A 0.05 CACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCCCTTTGAAGCCATGCCCC*GCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAGGA
CHAK00344 1 601 Not Confirmed Likely Rare U.S. White Coding Asp His Nonsynonymous 1 GAC CAC M32863 G 0.95 C 0.05 CGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAG*ACCTGCACCTGGAAGTACACCAGACCTTCCAGGAACTGGGGCCCATTTTCAGGTAAAGCC
CHAK00345 2 36 Not Confirmed Certain High U.S. White Coding Asp Asp Synonymous 3 GAT GAC M32863 T 0.5 C 0.5 GGGGCCAGCAGGGACTAGACCCCGTCCAGCAGGGCCTCCTGCTTGGCCCCACAGGTACGA*TTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTGCAACAG
CHAK00346 2 78 Not Confirmed Likely Rare U.S. White Coding Asp Asp Synonymous 3 GAC GAT M32863 C 0.95 T 0.05 TTGGCCCCACAGGTACGATTTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGA*GTGGAGAAGCTGCAACAGGTGGACAGCCTGCATCCCCACAGGATGAGCCTGGAGCCCTGG
CHAK00347 2 184 Not Confirmed Likely Rare U.S. White Coding Leu Leu Synonymous 1 CTG TTG M32863 C 0.95 T 0.05 AGCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGTGGCGTGTTCTTG*TGTAAGCGGCGAGCTGAGAGCTGGGAGCAGGGTGGGCAGCCTGGGTGTAGGGGGGAGGCG
CHAK00348 2 188 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A M32863 A 0.95 G 0.05 TGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGTGGCGTGTTCTTGCTGT*AGCGGCGAGCTGAGAGCTGGGAGCAGGGTGGGCAGCCTGGGTGTAGGGGGGAGGCGAGAG
CHAK00349 3 114 Not Confirmed Certain Rare African Coding Met Ile Nonsynonymous 3 ATG ATC M32878 G 0.95 C 0.05 CCGATTGCGGCTGAATCCAGAAGTGCTGTCGCCCAACGCTGTGCAGAGGTTCCTCCCGAT*GTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCC
CHAK00350 4 177 Not Confirmed Certain Rare Both Coding Thr Ile Nonsynonymous 2 ACC ATC M32878 C 0.95 T 0.05 AGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCTCGCTGGA*CAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGA
CHAK00351 4 205 Not Confirmed Likely Low African Coding Phe Leu Nonsynonymous 3 TTT TTG M32878 T 0.9 G 0.1 CATGTTCATGCCCAGGAGCCTGTCTCGCTGGACCAGCCCCAAGGTGTGGAAGGAGCACTT*GAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGACCCGGGCAGTGCTATGGGG
CHAK00352 4 247 Not Confirmed Likely Medium U.S. White Intron N/A N/A N/A 0 N/A N/A M32878 C 0.85 G 0.15 GGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGA*CCGGGCAGTGCTATGGGGAAGGACACCATCGGGCCCCCAATTTCTCCCTCTCCA
CHAK00353 5 16 Not Confirmed Likely High African Intron N/A N/A N/A 0 N/A N/A M32878 C 0.45 T 0.55 AGGAGGAGGACACTGAAGGATGTTTCCCAGCACCAAAGTCTGAGGGCTGCCTCC*GCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTCAGCCGC
CHAK00354 5 55 Not Confirmed Likely Rare African Coding Tyr Tyr Synonymous 3 TAT TAC M32878 T 0.95 C 0.05 CAAAGTCTGAGGGCTGCCTCCCGCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTA*CAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTG
CHAK00355 5 72 Not Confirmed Likely Rare U.S. White Coding Ser Asn Nonsynonymous 2 AGC AAC M32878 G 0.95 A 0.05 CTCCCGCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTCA*CCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTGAATGCGGAACTGTCGCC
CHAK00356 5 103 Not Confirmed Certain Low Both Coding Ala Ala Synonymous 3 GCG GCA M32878 G 0.9 A 0.1 CCAGAAAATCTATCAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGC*GAGCTCCTGTTGAATGCGGAACTGTCGCCAGATGCCATCAAGGCCAACTCTATGGAACTC
CHAK00357 5 107 Confirmed Likely Medium U.S. White Coding Leu Val Nonsynonymous 1 CTC GTC M32878 C 0.8 G 0.2 AAAATCTATCAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAG*TCCTGTTGAATGCGGAACTGTCGCCAGATGCCATCAAGGCCAACTCTATGGAACTCACTG
CHAK00358 7 52 Not Confirmed Likely Rare U.S. White Coding Leu Leu Synonymous 1 CTG TTG M32878 C 0.95 T 0.05 CCAGCTGAGACCCTTTCTATGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTT*TGGAGCGAGTGGCGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGA
CHAK00359 8 144 Not Confirmed Likely Rare U.S. White Coding Tyr His Nonsynonymous 1 TAC CAC M32878 T 0.95 C 0.05 AGGCCTGAGCGCTATAACCCCCAGCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTC*ACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCGCCTGGCAGAGGCAG
CHAK00360 9 16 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A M32879 G 0.95 C 0.05 TCTGAGAAGGCTGCACCACGTCGATGGGCTGCGGACCAAGCCAGATGGAAACCC*GCTTCTGTCCTAGGTGCTGAAACACCTCCAGGTGGAGACACTAACCCAAGAGGACATAAA
CHAK00361 9 62 Not Confirmed Likely Rare U.S. White Coding Thr Thr Synonymous 3 ACC ACT M32879 C 0.95 T 0.05 CCAGATGGAAACCCGGCTTCTGTCCTAGGTGCTGAAACACCTCCAGGTGGAGACACTAAC*CAAGAGGACATAAAGATGGTCTACAGCTTCATATTGAGGCCCAGCATGTGCCCCCTCCTC
CHAK00362 9 274 Not Confirmed Likely Low Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 T 0.95 C 0.05 TTCTCTCCCACATGCACAGCTTCCTGAGTCACCCCTCTGTCTAACCAGCCCCAGCACAAA*GGAACTCCCGAGGGCCTCTAGGACCAGGGTTTGCCAGGCTAAGCAGCAATGCCAGGGCAC
CHAK00363 9 350 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 T 0.9 G 0.1 CTCTAGGACCAGGGTTTGCCAGGCTAAGCAGCAATGCCAGGGCACAGCTGGGGAAGATCT*GCTGACCTTGTCCCCAGCCCCACCTGGCCCTTTCTCCAGCAAGCACTGTCCTCTGGCAGT
CHAK00364 9 459 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 G 0.75 A 0.25 TCCTCTGGCAGTTTGCCCCCATCCCTCCCAGTGCTGGCTCCAGGCTCCTCGTGTGGCCAT*CAAGGGTGCTGTGGTTTTGTCCCTTGCCTTCCTGCCTCTAGTCTCACATGTCCCTGTTCC
CHAK00365 9 592 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.9 C 0.1 AGGGCCCCTGCGCAGACTGTCAGAGTCATTAAGCGGGATCCCAGCATCTAGAGTCCAGTC*AGTTCCCTCCTGCAGCCTGCCCCCTAGGCAGCTCGAGCATGCCCTGAGCTCTCTGAAAGT
CHAK00366 9 657 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 G 0.6 A 0.4 CCCTCCTGCAGCCTGCCCCCTAGGCAGCTCGAGCATGCCCTGAGCTCTCTGAAAGTTGTC*CCCTGGAATAGGGTCCTGCAGGGTAGAATAAAAAGGCCCCTGTGGTCACTTGTCCTGACA
CHAK00367 9 786 Not Confirmed Likely Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.85 G 0.15 TTCAAGTGATACAACTGAGTCTCGAGGGACGTGTGTTCCCCAGCTGATCGTGTCAGCCTC*TGCCCCTGGCCTCATCTTTCATGGACCAGGCCTTGTTCCAGGAGTGGGCGTTGGGTCCTC
CHAK00368 9 835 Not Confirmed Certain Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 C 0.8 T 0.2 GTGTCAGCCTCATGCCCCTGGCCTCATCTTTCATGGACCAGGCCTTGTTCCAGGAGTGGG*GTTGGGTCCTCTGCTTCCTGTGCTGTCCCCTGGGGAAGGTCCCAAGGATGCTGTCAGGAG
CHAK00369 9 879 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.65 G 0.35 TTGTTCCAGGAGTGGGCGTTGGGTCCTCTGCTTCCTGTGCTGTCCCCTGGGGAAGGTCCC*AGGATGCTGTCAGGAGATGGAAGAGTCATGTGGGGTGGGAACCTGGGGTGTGGTTCCAGA 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.