Table 2.
SNPs | Genome position (chr 7) | Reference SNP ID in NCBI | Location | Nucleotide substitutionsa | Residue change |
---|---|---|---|---|---|
G1 | 1121849 | rs12701969 | 5′-UTR | −9516A > G | – |
G2 | 1121886 | – | 5′-UTR | −9479 G > A | – |
G3 | 1126659 | rs3808351 | 5′-UTR | −4706 G > A | – |
G4 | 1126876 | rs10269151 | 5′-UTR | −4489 G > A | – |
G5 | 1127705 | rs33987461 | Intron | −3660 G > T | – |
G6 | 1131356 | rs3802141 | 5′-UTR | −9 T > C | – |
G7 | 1131378 | – | Coding region | 14 C > T | p.Ser5Phe |
G8 | 1131394 | rs34497267 | Coding region | 30 G > A | p.Val10Val |
G9 | 1131411 | rs11544331 | Coding region | 47 C > T | p.Pro16Leu |
G10 | 1132153 | rs3808352 | Coding region | 789 G > A | p.Ala263Ala |
G11 | 1132413 | – | Coding region | 1049 G > A | p.Arg350His |
G12 | 1132671 | rs4266553 | 3′-UTR | 1307 C > G | – |
G13 | 1132691 | rs1133041 | 3′-UTR | 1327 C > T | – |
G14 | 1132720 | rs12702047 | 3′-UTR | 1356 G > A | – |
G15 | 1132972 | rs3808353 | 3′-UTR | 1608 G > A | – |
G16 | 1133171 | rs3808354 | 3′-UTR | 1807 G > T | – |
NCBI National Center for Biotechnology Information
aThe A of the translation initiation codon is denoted as +1