Endothelin Receptor, Type A (EDNRA)

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
CHAK00411 6 88 Confirmed Certain High Both Coding His His Synonymous 3 CAC CAT D11149 C 0.55 T 0.45 AGTGGCAAAAACAGTTTTCTGCTTGGTTGTAATTTTTGCTCTTTGCTGGTTCCCTCTTCA*TTAAGCCGTATATTGAAGAAAACTGTGTATAACGAAATGGACAAGAACCGATGTGAATTA
CHAK00412 6 124 Confirmed Certain High Both Coding Glu Glu Synonymous 3 GAA GAG D11149 A 0.5 G 0.5 TGCTCTTTGCTGGTTCCCTCTTCACTTAAGCCGTATATTGAAGAAAACTGTGTATAACGA*ATGGACAAGAACCGATGTGAATTACTTAGGTATGATCCTGTGTACTCGC
CHAK00413 8 228 Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 C 0.65 G 0.35 GAAGCACTCCTCGGTACTCCCATAATCCTCTCGGAGAAAAAAATCACAAGGCAACTGTGA*TCCGGGAATCTCTTCTCTGATCCTTCTTCCTTAATTCACTCCCACACCCAAGAAGAAATG
CHAK00414 8 295 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.95 G 0.05 AATCTCTTCTCTGATCCTTCTTCCTTAATTCACTCCCACACCCAAGAAGAAATGCTTTCC*AAACCGCAAGGTAGACTGGTTTATCCACCCACAACATCTACGAATCGTACTTCTTTAATT
CHAK00415 8 622 Not Confirmed Likely High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.3 A 0.7 AAGATTTTCTACTTTTTTTAAGTGATTTTTTGTCCTTCAGCCAAACACAATATGGGCTCA*GTCACTTTTATTTGAAATGTCATTTGGTGCCAGTATTTTTTAACTGCATAATAGCCTAAC
CHAK00416 8 655 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.95 A 0.05 CCTTCAGCCAAACACAATATGGGCTCAGGTCACTTTTATTTGAAATGTCATTTGGTGCCA*TATTTTTTAACTGCATAATAGCCTAACATGATTATTTGAACTTATTTACACATAGTTTGA
CHAK00417 8 788 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.8 G 0.2 AAAAATAGTATTCAGGTGAGCAATTAGATTAGTATTTTCCACGTCACTATTTATTTTTTT*AAACACAAATTCTAAAGCTACAACAAATACTACAGGCCCTTAAAGCACAGTCTGATGACA
CHAK00418 8 950 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D11151 T 0.95 C 0.05 GAACTGTATTTTATTTTTTAAATGGTGTTTTATTACAAGGGACCTTGAACATGTTTTGTA*GTTAAATTCAAAAGTAATGCTTCAATCAGATAGTTCTTTTTCACAAGTTCAATCTGTTTT
CHAK00419 8 985 Not Confirmed Certain Low Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 T 0.9 C 0.1 CAAGGGACCTTGAACATGTTTTGTATGTTAAATTCAAAAGTAATGCTTCAATCAGATAGT*CTTTTTCACAAGTTCAATCTGTTTTTCATGTAAATTTTGTATGAAAAATCAATGTCAAGT
CHAK00420 8 1157 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.7 A 0.3 ACTGTATATAGAAGTCTAAAACACACCTAAGAGAAAAAGATCGAATTTTTCAGATGATTC*GAAATTTTCATTCAGGTATTTGTAATAGTGACATATATATGTATATACATATCACCTCCT
CHAK00421 8 1380 Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 C 0.75 T 0.25 TCATGTCAGTGAAAAATAATTACCCACAAATGCCACCAGTAACTTAACGATTCTTCACTT*TTGGGGTTTTCAGTATGAACCTAACTCCCCACCCCAACATCTCCCTCCCACATTGTCACC
CHAK00422 8 1687 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.75 G 0.25 GATGGTATGTATGGATTTAATCTAATCTAATAATTGTGCCCCGCAGTTGTGCCAAAGTGC*TAGTCTGAGCTAAAATCTAGGTGATTGTTCATCATGACAACCTGCCTCAGTCCATTTTAA
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.