Alpha Adducin (ADD1)

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
CHAK00001 1 305 Not Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A L29288 G 0.95 A 0.05 AGGGGCTGAGGGGCGGAGAGGCCTGGCGGGCGCTGCGGGCCAGGGGACGGGGGCGGAGCC*GAGCCGGAGCCGACGGGCGGTGGCCGCACTGGGACCCCGGAATCCCGCGCGCTGCCCACG
CHAK00002 10 246 Confirmed Certain Medium U.S. White Coding Gly Trp Nonsynonymous 1 GGG TGG L29294 G 0.85 T 0.15 CAGCAGCGGGAGAAGACAAGATGGCTGAACTCTGGCCGGGGCGACGAAGCTTCCGAGGAA*GGCAGAATGGAAGCAGTCCCAAGTCGAAGACTAAGGTGTGGACGAACATTACACACGATC
CHAK00003 12 43 Not Confirmed Likely Rare U.S. White Coding Asn Ile Nonsynonymous 2 AAT ATT L29297 A 0.95 T 0.05 ATGGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGA*TTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGA
CHAK00004 13 173 Confirmed Likely High Both Coding Ser Cys Nonsynonymous 2 TCT TGT L29295 C 0.6 G 0.4 CACTCACAGACCGTGAGCTGGAGGAGTACCGCAGGGAGGTGGAGAGGAAGCAGAAGGGCT*TGAAGGTGAGTGCTTGTGGTCCTGGGCACGGCCACTCCAGAAGGTGAAAGTGCTCTGGGA
CHAK00005 15 74 Not Confirmed Certain Medium Both Intron N/A N/A N/A 0 N/A N/A L29296 C 0.75 T 0.25 CTNNNNNNACAAGCAGGAGACGGATGCGCTAGAGAGTACCTGTTACCCTAGTAAGTACCG*GCTGCCTCCGCTCTCCACCGGTGCCCTGCGCTTTGCCTCATTCTCCTGCTTCTTTGT
CHAK00006 16 691 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 G 0.05 GAGGCACTAAGTCATGGTCCTGGCTGGAAGGTACTGAAGGCTTCTGCAGCTTTGGCTGCA*GTCACCCTCCTGAGCCTCACCTTTCCTGCCGTCCCTCCTGTTGTGAAATCACCACATTCT
CHAK00007 16 995 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 T 0.05 AGGAAACCCCAGCGGCAGATGGGCCTGTGTGCACCCAACGTGATGCTATGCATGTCTGAC*GACGATCCCTCGACCAGAATCAGATTCAGGAGCTCAGTTTCTTTTTCACTTGGGTCTCTG
CHAK00008 16 1071 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 G 0.95 A 0.05 AGAATCAGATTCAGGAGCTCAGTTTCTTTTTCACTTGGGTCTCTGGATTCCTGTCATAGG*AAGGTATATCAGGAGGGGAAGAGGCCTTTCTAGAATTTTCTTTGAGCAGGTTTACAATTT
CHAK00009 16 1321 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 T 0.05 GAAAGATGCCCTAGTTGTGATCAAAGGTAACTCGAGGTGGAGGGTAGCCCTGGGGCCCCT*GACATCACCGTCATTGATGGAGCCTGAACCGTGTGCTCCTCGGCAGATGCTGTTGTTGTT
CHAK00010 16 1328 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A L29296 A 0.9 G 0.1 GCCCTAGTTGTGATCAAAGGTAACTCGAGGTGGAGGGTAGCCCTGGGGCCCCTCGACATC*CCGTCATTGATGGAGCCTGAACCGTGTGCTCCTCGGCAGATGCTGTTGTTGTTACTTCCC
CHAK00011 16 1478 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A L29296 A 0.9 G 0.1 GCTGAGCAGGAACCGGAGGGTGACCCATTTCAGGAGGTGCCGGTACCAGCCTGACTAGGT*CAGGCAAGCTTGTGTGGGCCCAACAGGCCCTTGGTAGAGCTGGTGCCAGATGTGGGCTCA
CHAK00012 2 31 Not Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A L29293 A 0.95 G 0.05 ATGAAACACTGTTAGACATTGATTTGAAAACAATAATTTCTTTTATTTTGATTCTGTAGG*ACCTAGAAAGATTGTACAATGAATGGTGATTCTCGTGCTGCGGTGGTGACCTCACCACCC
CHAK00013 7 96 Not Confirmed Likely Rare U.S. White Coding Tyr Asn Nonsynonymous 1 TAT AAT L29291 T 0.95 A 0.05 GCAATGAAATGTGGCCTCTTGCCAATCTCCCCGGAGGCGCTTTCCCTTGGAGAAGTGGCT*ATCATGACTACCATGGCATTCTGGTTGATGAAGAGGAAAAAGTTTTGATTCAGAAAAATC
CHAK00014 9 173 Not Confirmed Likely Rare U.S. White Coding Glu Asp Nonsynonymous 3 GAA GAT L29289 A 0.95 T 0.05 AGGGTCTCCGGTAGGGGAAGGCACTGGATCGCCTCCCAAGTGGCAGATTGGTGAGCAGGA*TTTGAAGCCCTCATGCGGATGCTCGATAATCTGGTAAGAATGGTGCCACCACTTGATGAT
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.