Sodium Channel, Nonvoltage-gated 1, Gamma (SCNN1G)

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
CHAK00801 1 167 Not Confirmed Certain High Both Promoter N/A N/A N/A 0 N/A N/A U48937 G 0.4 A 0.6 AATGCAGGATGGCAGGGCGGCCTCGGGGCGGCAGCAGGCACTGCGCGGTGGCCCAGGAAG*CGCAGCGCGGCCGGGCTGGGGCGCAGGGCGGCTTCGGGGCGCCAGGGGGCGTTGTGAAGT
CHAK00802 1 236 Confirmed Likely Medium Both Promoter N/A N/A N/A 0 N/A N/A U48937 G 0.8 T 0.2 GGCCGGGCTGGGGCGCAGGGCGGCTTCGGGGCGCCAGGGGGCGTTGTGAAGTCGTGGCCC*CTCCGGGCGGTCTCAGGTGCCTGGCGGCCTGGGGAAAGCACCTGGGCAGGTGGGGGCGGG
CHAK00803 1 498 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U48937 G 0.95 A 0.05 TGAGTTCAGCCGGGTTGGGTCGGACCAGCTCGGGGGTTCTGGGCACTGGAGCGGATGCCG*GCGCCAGGGCGTCGGACGCCGTCAGCGCGGTGGGTGGCCGAGCCAGCATCAGCCGGTGGC
CHAK00804 1 552 Not Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A U48937 C 0.8 G 0.2 ATGCCGGGCGCCAGGGCGTCGGACGCCGTCAGCGCGGTGGGTGGCCGAGCCAGCATCAGC*GGTGGCGGCTTCCCGGTGCCCGGGATGCTGGGACACCTTGCCCGGGCGGTAGCGGCCAGC
CHAK00805 1 553 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U48937 G 0.95 A 0.05 TGCCGGGCGCCAGGGCGTCGGACGCCGTCAGCGCGGTGGGTGGCCGAGCCAGCATCAGCC*GTGGCGGCTTCCCGGTGCCCGGGATGCTGGGACACCTTGCCCGGGCGGTAGCGGCCAGCT
CHAK00806 12 407 Not Confirmed Certain Medium Both Coding Leu Leu Synonymous 3 CTC CTG L36592 C 0.75 G 0.25 CTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTCACAGATACCCAGATGCTGGATGAGCT*TGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGG
CHAK00807 12 454 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L36592 G 0.95 T 0.05 TGCTGGATGAGCTCTGAGGCAGGGTTGAGAAGACAGATCTAGTCAGGACCACCAGCCATG*TCTAAGGACATGGATCGGGTGCCCCCAGACGTGTGCACAGGGGACCCTCTGCCCCACTCT
CHAK00808 12 485 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L36592 G 0.95 A 0.05 GACAGATCTAGTCAGGACCACCAGCCATGGTCTAAGGACATGGATCGGGTGCCCCCAGAC*TGTGCACAGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCT
CHAK00809 12 569 Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A L36592 T 0.8 G 0.2 CACTCTGGGCTTTTCAGATACTCTGACCAAAAAGCCTGCTTTAAACCGCAAGATGGGGCC*GGGCATGCGCAGGAGGAGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGGTG
CHAK00810 12 646 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A NM 001039.1 C 0.75 T 0.25 AGCCATCGGGTACTACGCAGCAACACTCACAACTGTCCAGGCTGAGATAAATCCCGGGAC*TGAACTATTAGCACGTCACTAGAGACTGGGAGCCGAGGCAGTGGTGCTGGCCCAAGTGAA
CHAK00811 12 678 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A NM 001039.1 G 0.75 A 0.25 CTGTCCAGGCTGAGATAAATCCCGGGACCTGAACTATTAGCACGTCACTAGAGACTGGGA*CCGAGGCAGTGGTGCTGGCCCAAGTGAAGGCCAGAGTGAGGACTGATGCAGCTCTTTACG
CHAK00812 12 982 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A NM 001039.1 A 0.75 G 0.25 CATCATTGACACTGGAGAAAGGTGTCCTCCATGCCCTCAGGCAGCAGAGAACTGGCCCAG*GCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCGTGGTGGAGGTCTGGGACTATGTCAGAG
CHAK00813 12 1016 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A NM 001039.1 T 0.7 A 0.3 CCTCAGGCAGCAGAGAACTGGCCCAGAGCCCTTGGAGTGTTGGTGGAGATCAGAGTGCCG*GGTGGAGGTCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGCTCCAGGAG
CHAK00814 12 1085 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A NM 001039.1 A 0.75 G 0.25 TCTGGGACTATGTCAGAGTGTCCTCACTTTGGGGCATGGGTGGCTCCAGGAGATGGATTT*GTTATTCAATTTTGTGGATGAATAAATTGAGGCACAGAAAGATTAAGTTACCGGCCCAAG
CHAK00815 2 26 Not Confirmed Certain High Both Intron N/A N/A N/A 0 N/A N/A U53836 G 0.3 C 0.7 TCCAGGGACACACTAACCGGCTAGTGCCTGCCAGCTCACCTGCTTCTCTTCTTTGCCCCT*CAGCACGCCCGTCCTCGGAGTCCCGTCCTCAAAAGTCCCATCCTCGCCATGGCACCCGGA
CHAK00816 2 43 Not Confirmed Likely High Both 5' UTR N/A N/A N/A 0 N/A N/A U53836 G 0.45 A 0.55 CGGCTAGTGCCTGCCAGCTCACCTGCTTCTCTTCTTTGCCCCTGCAGCACGCCCGTCCTC*GAGTCCCGTCCTCAAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAA
CHAK00817 2 219 Not Confirmed Likely Low U.S. White Coding Gly Cys Nonsynonymous 1 GGC TGC U53837 G 0.9 T 0.1 ATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCCGCATCGTGGTGTCCCGC*GCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCT
CHAK00818 3 99 Not Confirmed Likely Medium Both Coding Tyr Tyr Synonymous 3 TAT TAC L36592 T 0.75 C 0.25 CGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTA*GGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGA
CHAK00819 3 186 Not Confirmed Likely Medium Both Coding Ile Ile Synonymous 3 ATT ATC L36592 T 0.85 C 0.15 AGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGAT*CCGCTGCTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGTGG
CHAK00820 3 259 Not Confirmed Likely Low African Coding Gly Ser Nonsynonymous 1 GGC AGC L36592 G 0.95 A 0.05 TTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGTGGAAGCGGAAAGTC*GCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGG
CHAK00821 3 261 Not Confirmed Likely Low Both Coding Gly Gly Synonymous 3 GGC GGT L36592 C 0.95 T 0.05 TGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGTGGAAGCGGAAAGTCGG*GGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAAGTGGTGGGA
CHAK00822 3 301 Not Confirmed Likely Rare U.S. White Coding Glu Lys Nonsynonymous 1 GAG AAG L36592 G 0.95 A 0.05 GGGTGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATC*AGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCT
CHAK00823 4 47 Not Confirmed Likely Rare U.S. White Coding Ser Ser Synonymous 3 TCC TCT L36592 C 0.95 T 0.05 TGTCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTC*GACTGTGCCACCTACACCTTCAGCTCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTA
CHAK00824 7 142 Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A U53847 G 0.75 A 0.25 GTGACGTGCCAATCAGGAACATCTACAACGCTGCCTACTCGCTCCAGGTAACAGATTGGC*GGGGCACCCAGCCCTGGGTTTATGGCCCGGACCCAGGAGACAAAGTTATATCTA
CHAK01042 N/A 21 Hypertension 1998 May;31(5):1118-1124 N/A N/A Literature Search Coding Asn Lys Nonsynonymous 3 AAC AAA N/A C N/A A N/A CAGAGATCCATCATGGAGAGCCCAGCCAACAGTATTGAGATGCTTCTGTCCAA*TTCGGTGGCCAGCTGGGCCTGTGGATGAGCTGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTT
CHAK01043 N/A 172 Hypertension 1998 May;31(5):1118-1124 N/A N/A Literature Search Coding Cys Arg Nonsynonymous 1 TGT CGT N/A T N/A C N/A TCTTCTCTATCATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCTGGAAACAGGCTCCCCCA*GTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGATGACCTACCCACT
CHAK01044 N/A 208 Hypertension 1998 May;31(5):1118-1124 N/A N/A Literature Search Exon N/A Pro N/A 0 N/A CCT N/A . N/A CCT N/A ACAGGCTCCCCCATGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAAT*CCAGCCCTGGATATAGACGATGACCTACCCACTTTCAACTCTGCTTTGC 
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