Endothelin Receptor, Type B (EDNRB)

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
CHAK00423 1 33 Not Confirmed Likely Rare African Coding Leu Gln Nonsynonymous 2 CTG CAG D13162 T 0.95 A 0.05 TGCGGAGCGGCCACCGGACGCCTTCTGGAGCAGGTAGCAGCATGCAGCCGCCTCCAAGTC*GTGCGGACGCGCCCTGGTTGCGCTGGTTCTTGCCTGCGGCCTGTCGCGGATCTGGGGAGA
CHAK00424 1 62 Confirmed Likely Rare African Coding Leu Phe Nonsynonymous 1 CTT TTT D13162 C 0.95 T 0.05 GCAGGTAGCAGCATGCAGCCGCCTCCAAGTCTGTGCGGACGCGCCCTGGTTGCGCTGGTT*TTGCCTGCGGCCTGTCGCGGATCTGGGGAGAGGAGAGAGGCTTCCCGCCTGACAGGGCCA
CHAK00425 1 347 Not Confirmed Likely Rare African Coding Phe Val Nonsynonymous 1 TTC GTC D13162 T 0.95 G 0.05 GGACCCATCGAGATCAAGGAGACTTTCAAATACATCAACACGGTTGTGTCCTGCCTTGTG*TCGTGCTGGGGATCATCGGGAACTCCACACTTCTGAGAATTATCTACAAGAACAAGTGCA
CHAK00426 2 78 Confirmed Likely Rare African Coding Ser Ser Synonymous 3 TCC TCT D13163 C 0.95 T 0.05 AGAGGACTGGCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATACAGAAAGCCTC*GTGGGAATCACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAGGTAGAAGCTT
CHAK00427 2 87 Confirmed Likely Rare Both Coding Ile Ile Synonymous 3 ATC ATT D13163 C 0.95 T 0.05 GCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATACAGAAAGCCTCCGTGGGAAT*ACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAGGTAGAAGCTT
CHAK00428 3 144 Confirmed Likely Low African Coding Thr Met Nonsynonymous 2 ACG ATG D13164 C 0.95 T 0.05 TGATTTGGGTGGTCTCTGTGGTTCTGGCTGTCCCTGAAGCCATAGGTTTTGATATAATTA*GATGGACTACAAAGGAAGTTATCTGCGAATCTGCTTGCTTCATCCCGTTCAGAAGACAGC
CHAK00429 4 39 Confirmed Certain Medium Both Coding Leu Leu Synonymous 3 CTG CTA D13165 G 0.75 A 0.25 ATCCCTATAGTTTTACAAGACAGCAAAAGATTGGTGGCT*TTCAGTTTCTATTTCTGCTTGCCATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATGTTGAGAAAGAAA
CHAK00430 4 122 Confirmed Likely Rare U.S. White Coding Ser Asn Nonsynonymous 2 AGT AAT D13165 G 0.95 A 0.05 CATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATGTTGAGAAAGAAAA*TGGCATGCAGATTGCTTTAAATGATCACCTAAAGCAGGTAAGAAAAT 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.