Table 2.
SNP | Region | Position | Nucleotide change | Amino-acid effect | Frequency % (n) |
---|---|---|---|---|---|
rs148342296 | Promoter | -477 | A > G | No translateda | 11/99 |
rs9332105 | Intron 1 | 486 | G > C | No translated | 52/98 |
rs201856860 | Exon 3 | 3514 | T > C | Ile112 = silentb | 1/100 |
rs12414460 | Exon 3 | 3549 | G > A | Arg124Glnmissensec | 2/100 |
rs9332127 | Intron 3 | 9032 | G > C | No translated | 3/99 |
rs9332172 | Intron 5 | 33349 | A > G | No translated | 5/100 |
rs148303924 | Intron 5 | 33622 | T > C | No translated | 1/100 |
rs1057910 | Exon 7 | 42614 | A > C | Ile359Leumissensec | 2/99 |
rs17847029 | Intron 7 | 42726 | C > T | No translated | 7/99 |
rs93321230 | Intron 8 | 47545 | A > T | No translated | 2/100 |
rs2298037 | Intron 8 | 47639 | C > T | No translated | 54/100 |
rs147375734 | Intron 8 | 47947 | T > C | No translated | 3/98 |
rs28371688 | Intron 8 | 50053 | G > A | No translated | 2/100 |
rs1934669 | Intron 8 | 50056 | A > T | No translated | 56/100 |
rs1057911 | Exon 9 | 50298 | A > T | Gly475 = silentb | 2/100 |
rs9332244 | 3’-UTR | 50566 | A > G | No translated | 9/100 |
rs9332245 | 3’-UTR | 50742 | T > A | No translated | 2/100 |
SNP, single nucleotide polymorphism;
Non translated: These synonymous SNP mutations have no effect on protein sequence;
silent mutation;
missense mutation.