Phenylethanolamine N-Methyltransferase (PNMT)

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
CHAK00720 3 75 Not Confirmed Certain Low Both Coding Lys Lys Synonymous 3 AAA AAG X52730 A 0.9 G 0.1 GTGCCTCCTGCACAGGGAATGCTGGCAGGATAAGGAGCGCCAGCTGCGAGCCAGGGTGAA*CGGGTCCTGCCCATCGACGTGCACCAGCCCCAGCCCCTGGGTGCTGGGAGCCCAGCTCCC
CHAK00721 3 181 Not Confirmed Likely Low U.S. White Coding Ser Cys Nonsynonymous 1 AGC TGC X52730 A 0.9 T 0.1 GGGAGCCCAGCTCCCCTGCCTGCTGACGCCCTGGTCTCTGCCTTCTGCTTGGAGGCTGTG*GCCCAGATCTTGCCAGCTTTCAGCGGGCCCTGGACCACATCACCACGCTGCTGAGGCCTG
CHAK00722 3 251 Not Confirmed Likely Medium Both Coding Leu His Nonsynonymous 2 CTC CAC X52730 T 0.85 A 0.15 TTGCCAGCTTTCAGCGGGCCCTGGACCACATCACCACGCTGCTGAGGCCTGGGGGGCACC*CCTCCTCATCGGGGCCCTGGAGGAGTCGTGGTACCTGGCTGGGGAGGCCAGGCTGACGGT
CHAK00723 3 269 Not Confirmed Likely Medium African Coding Leu Gln Nonsynonymous 2 CTG CAG X52730 T 0.9 A 0.1 CCCTGGACCACATCACCACGCTGCTGAGGCCTGGGGGGCACCTCCTCCTCATCGGGGCCC*GGAGGAGTCGTGGTACCTGGCTGGGGAGGCCAGGCTGACGGTGGTGCCAGTGTCTGAGGA
CHAK00724 3 380 Not Confirmed Likely Rare African Coding Arg His Nonsynonymous 2 CGC CAC X52730 G 0.95 A 0.05 TGTCTGAGGAGGAGGTGAGGGAGGCCCTGGTGCGTAGTGGCTACAAGGTCCGGGACCTCC*CACCTATATCATGCCTGCCCACCTTCAGACAGGCGTAGATGATGTCAAGGGCGTCTTCTT
CHAK00725 3 445 Not Confirmed Likely Rare African Coding Trp Arg Nonsynonymous 1 TGG AGG X52730 T 0.95 A 0.05 TATATCATGCCTGCCCACCTTCAGACAGGCGTAGATGATGTCAAGGGCGTCTTCTTCGCC*GGGCTCAGAAGGTTGGGCTGTGAGGGCTGTACCTGGTGCCCTGTGGCCCCCACCCACCTG
CHAK00726 3 554 Not Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A X52730 C 0.85 T 0.15 CCCACCCACCTGGATTCCCTGTTCTTTGAAGTGGCACCTAATAAAGAAATAATACCCTGC*GCTGCGGTCAGTGCTGTGTGTGGCTCTCCTGGGAAGCAGCAAGGGCCCAGAGATCTGAGT 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.