Dopamine Beta Hydroxylase (DBH)

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
CHAK00394 1 152 Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A X13257 G 0.95 A 0.05 GGTGGGACCAGAGAGCTCACCCCAGCCATGCCCGCCCTCAGTCGCTGGGCCAGCCTGCCC*GCCCCAGCATGCGGGAGGCAGCCTTCATGTACAGCACAGCAGTGGCCATCTTCCTGGTCA
CHAK00395 3 63 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG X13259 G 0.95 C 0.05 CTGCAGGACGGCACTGTCCACTTGGTCTACGGGATCCTGGAGGAGCCGTTCCGGTCACTG*AGGCCATCAACGGCTCGGGCCTGCAGATGGGGCTGCAGAGGGTGCAGCTCCTGAAGCCCA
CHAK00396 3 153 Not Confirmed Certain Low Both Coding Ala Thr Nonsynonymous 1 GCG ACG X13259 G 0.9 A 0.1 GGGCTGCAGAGGGTGCAGCTCCTGAAGCCCAATATCCCCGAACCGGAGTTGCCCTCAGAC*CGTGCACCATGGAGGTCCAAGCTCCCAATATCCAGATCCCCAGCCAGGAGACCACGTACT
CHAK00397 3 239 Not Confirmed Likely Rare U.S. White Coding Lys Asn Nonsynonymous 3 AAG AAC X13259 G 0.95 C 0.05 CAATATCCAGATCCCCAGCCAGGAGACCACGTACTGGTGCTACATTAAGGAGCTTCCAAA*GGCTTCTCTCGGCACCACATTATCAAGGTACGTGCG
CHAK00398 3 257 Not Confirmed Likely Rare African Coding His His Synonymous 3 CAC CAT X13259 C 0.95 T 0.05 CCAGGAGACCACGTACTGGTGCTACATTAAGGAGCTTCCAAAGGGCTTCTCTCGGCACCA*ATTATCAAGGTACGTGCG
CHAK00399 4 12 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG X13260 G 0.95 C 0.05 TCCTCACAGTAC*AGCCCATCGTCACCAAGGGCAATGAGGCCCTTGTCCACCACATGGAAGTCTTCCAGTGCGCCCCCGAGATGGACAGCGTCCCCCACTTCAGCGGGCC
CHAK00400 4 132 Not Confirmed Likely Low African Coding Asp Asn Nonsynonymous 1 GAC AAC X13260 G 0.95 A 0.05 GCCCCCGAGATGGACAGCGTCCCCCACTTCAGCGGGCCCTGCGACTCCAAGATGAAACCC*ACCGCCTCAACTACTGCCGCCACGTGCTGGCCGCCTGGGCCCTGGGTGCCAAGGTGCGTG
CHAK00401 5 37 Not Confirmed Likely Rare U.S. White Coding Leu Pro Nonsynonymous 2 CTT CCT X13261 T 0.95 C 0.05 CCCACACAGGCATTTTACTACCCAGAGGAAGCCGGCC*TGCCTTCGGGGGTCCAGGGTCCTCCAGATATCTCCGCCTGGAAGTTCACTACCACAACCCACTGGTGATAGAAGGTAGGCGGC
CHAK00402 5 39 Confirmed Likely Low Both Coding Ala Ser Nonsynonymous 1 GCC TCC X13261 G 0.9 T 0.1 CCCACACAGGCATTTTACTACCCAGAGGAAGCCGGCCTT*CCTTCGGGGGTCCAGGGTCCTCCAGATATCTCCGCCTGGAAGTTCACTACCACAACCCACTGGTGATAGAAGGTAGGCGGC 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.