Glycogen Synthase 1 (GYS1)

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
CHAK00526 10 46 Not Confirmed Likely Rare African Coding Met Val Nonsynonymous 1 ATG GTG Z33628 A 0.95 G 0.05 CTCATTACTCCGTTCTCACATGCATGCCCCTGCTTGCCTTGCAGTGGGAGCCTTCCCGAC*TGAACAAGATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGC
CHAK00527 12 152 Not Confirmed Likely Rare African Coding Thr Thr Synonymous 3 ACA ACG Z33630 A 0.95 G 0.05 GTTTGTCCGTGGCTGTCACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACAC*CCGGGTGAGTGTAGTGGGCAGGGGACAGCGTGGTCATGGCATCCTAGTCAGAGCTAGCAT
CHAK00528 12 163 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A Z33630 G 0.95 A 0.05 GCTGTCACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACACACCGGGTGAGT*TAGTGGGCAGGGGACAGCGTGGTCATGGCATCCTAGTCAGAGCTAGCATGTCTTGGGGCG
CHAK00529 15 75 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG Z33633 G 0.95 C 0.05 CCTCCTTTCCCCTAGTACTATATGTCTGCGCGCCACATGGCGCTGTCCAAGGCCTTTCCA*AGCACTTCACCTACGAGCCCAACGAGGCGGATGCGGTGAGTGGACCCTGGATTTCTGCTT
CHAK00530 16 65 Not Confirmed Likely Low African Coding Val Val Synonymous 3 GTG GTA Z33633 G 0.95 A 0.05 TTTGCACCCACATCGCCGTATGCAGGCCCAGGGGTACCGCTACCCACGGCCAGCCTCGGT*CCACCGTCGCCCTCGCTGTCACGACACTCCAGCCCGCACCAGAGTGAGGACGAGGAGGAT
CHAK00531 16 152 Not Confirmed Likely Rare African Coding Asp Asp Synonymous 3 GAC GAT Z33633 C 0.95 T 0.05 CTCCAGCCCGCACCAGAGTGAGGACGAGGAGGATCCCCGGAACGGGCCGCTGGAGGAAGA*GGCGAGCGCTACGATGAGGACGAGGAGGCCGCCAAGGACCGGCGCAACATCCGTGCACCA
CHAK00532 16 210 Not Confirmed Likely Low U.S. White Coding Pro Ala Nonsynonymous 1 CCA GCA Z33633 C 0.9 G 0.1 GACGGCGAGCGCTACGATGAGGACGAGGAGGCCGCCAAGGACCGGCGCAACATCCGTGCA*CAGAGTGGCCGCGCCGAGCGTCCTGCACCTCCTCCACCAGCGGCAGCAAGCGCAACTCTG
CHAK00533 2 219 Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A Z33623 G 0.95 A 0.05 CCACCCCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGGTGGGAC*TGGCCCAGCCCAGGGCAGAAGCGGGTGGACAGCCTGCCATC
CHAK00534 3 53 Not Confirmed Likely Rare U.S. White Coding Ile Met Nonsynonymous 3 ATC ATG Z33609 C 0.95 G 0.05 AGAGCCTCCCTATGGTGCCTCCCCAACCCCATCCCAGGTGTATTTCGGGCGCTGGCTGAT*GAGGGAGGCCCTCTGGTGGTGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGC
CHAK00535 3 117 Not Confirmed Likely Low U.S. White Coding Lys Glu Nonsynonymous 1 AAG GAG Z33609 A 0.9 G 0.1 GGAGGCCCTCTGGTGGTGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGG*AGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGACCGCGAGGCCAACG
CHAK00536 3 134 Not Confirmed Likely Low U.S. White Coding Asp Asp Synonymous 3 GAT GAC Z33609 T 0.9 C 0.1 GCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGA*ACCTGCAACATCGGAGTGCCGTGGTACGACCGCGAGGCCAACGACGCTGTCCTCTTTGGC
CHAK00537 3 149 Not Confirmed Likely Low African Coding Gly Gly Synonymous 3 GGA GGG Z33609 A 0.95 G 0.05 TGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGG*GTGCCGTGGTACGACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGG
CHAK00538 4 16 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A Z33624 C 0.95 T 0.05 CTACTGGGGATTGCCGATTCTTTTCCCAACACTCGTGGAGACAGTGGCCCTGTC*CTGTTGCCCACAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCACTTCCA
CHAK00539 5 44 Not Confirmed Likely Rare African Coding Lys Lys Synonymous 3 AAG AAA Z33625 G 0.95 A 0.05 TCTTCTCCCCAATCCTTCTAACCGACTGCTGTCCCCTCCCACCCAGTTCAACGTGGACAA*GAAGCAGGGGAGAGGCAGATCTACCACCGATACTGCATGGAAAGGGCGGCAGCCCACTGC
CHAK00540 6 54 Not Confirmed Likely Rare U.S. White Coding Asn Ser Nonsynonymous 2 AAT AGT Z33626 A 0.95 G 0.05 ACAAATAAAACATGGGACCCTCACCCCCAATCCCAGATATTGTGACCCCCAATGGGCTGA*TGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGAACCTCCATGCTCAGAGCAAGGCTCG
CHAK00541 7 16 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A Z33610 T 0.95 G 0.05 TTGTAGTTTTGAGGCCAGGGCTAGCGGGTGAGGGCTTTGGGCTTTACCGTGCCT*GTGGGTTCTTTAGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATCGCCG
CHAK00542 7 17 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A Z33610 G 0.95 C 0.05 TTGTAGTTTTGAGGCCAGGGCTAGCGGGTGAGGGCTTTGGGCTTTACCGTGCCTT*TGGGTTCTTTAGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATCGCCGG
CHAK00543 7 114 Not Confirmed Certain High Both Coding Phe Phe Synonymous 3 TTC TTT Z33610 C 0.7 T 0.3 GACCTTATACTTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTCTT*CTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAGTGAGGCCTGGGCTATGAGGGGAC
CHAK00544 8 43 Not Confirmed Likely Low U.S. White Coding Glu Gly Nonsynonymous 2 GAG GGG Z33627 A 0.9 G 0.1 GCTTCCCCCACATGATCCTGGCCTCCCCCTCCTTTCTTTCTGCGCAGGTGAACGGCAGCG*GCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAAC 
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.