Table 1 The frequencies and positions of CYP2D6 genetic variants in the Uygur population
From: Genetic polymorphisms analysis of CYP2D6 in the Uygur population
SNP | Allele | Position | Nucleotide change | Frequency | Region | Amino-acid effect |
|---|---|---|---|---|---|---|
rs1080989 | −1000 | R(G > A) | 46.67 % | Promoter | No translated | |
rs28624811 | −740 | Y(C > T) | 59.38 % | Promoter | No translated | |
rs28633410 | −678 | R(G > A) | 59.38 % | Promoter | No translated | |
rs74966855 | −498 | M(C > A) | 5.21 % | Promoter | No translated | |
rs1080992 | −365 | R(G > A) | 4.17 % | Promoter | No translated | |
/ | −334 | S(G > C) | 1.04 % | Promoter | No translated | |
rs34167214 | −331 | K(T > G) | 1.04 % | Promoter | No translated | |
rs35534760 | −328 | Y(C > T) | 1.04 % | Promoter | No translated | |
−327 | R(A > G) | 1.04 % | Promoter | No translated | ||
/ | −321 | S(C > G) | 1.04 % | Promoter | No translated | |
/ | −320 | R(A > G) | 1.04 % | Promoter | No translated | |
/ | −203 | Y(C > T) | 1.04 % | Promoter | No translated | |
/ | −202 | R(G > A) | 1.04 % | Promoter | No translated | |
/ | −97 | R(G > A) | 1.04 % | Promoter | No translated | |
rs769258 | 31 | R(G > A) | 3.16 % | Exon1 | Val11Met | |
rs1065852 | CYP2D6*10 | 100 | Y(C > T) | 45.26 % | Exon1 | Pro34Ser |
rs146558635 | 123 | M(C > A) | 1.05 % | Exon1 | Pro41 = SM | |
rs1080995 | 214 | S(G > C) | 59.38 % | Intron 1 | No translated | |
rs1080996 | 221 | M(C > A) | 59.38 % | Intron 1 | No translated | |
rs74644586 | 223 | S(C > G) | 59.38 % | Intron 1 | No translated | |
rs76312385 | 227 | Y(T > C) | 59.38 % | Intron 1 | No translated | |
rs75276289 | 232 | S(G > C) | 61.46 % | Intron 1 | No translated | |
rs28695233 | 233 | M(A > C) | 45.83 % | Intron 1 | No translated | |
rs56011157 | 245 | R(A > G) | 45.83 % | Intron 1 | No translated | |
/ | 254 | K(G > T) | 1.04 % | Intron 1 | No translated | |
rs29001678 | 270 | Y(C > T) | 2.08 % | Intron 1 | No translated | |
rs28371699 | 310 | K(G > T) | 84.38 % | Intron 1 | No translated | |
/ | 317 | R(A > G) | 1.05 % | Intron 1 | No translated | |
/ | 323 | R(G > A) | 1.05 % | Intron 1 | No translated | |
rs28371701 | 745 | S(C > G) | 57.29 % | Intron 1 | No translated | |
rs71328650 | 842 | K(T > G) | 57.29 % | Intron 1 | No translated | |
rs28371703 | CYP2D6*48 | 973 | M(C > A) | 14.58 % | Exon 2 | Leu91Met |
rs28371704 | 983 | R(A > G) | 14.58 % | Exon 2 | His94Arg | |
rs28371705 | 996 | S(C > G) | 16.67 % | Exon 2 | Thr98 = SM | |
rs1081003 | CYP2D6*10 | 1038 | Y(C > T) | 31.25 % | Exon 2 | Phe112 = SM |
rs368389952 | 1070 | R(G > A) | 1.04 % | Intron 2 | No translated | |
rs1081004 | 1169 | R(G > A) | 4.17 % | Intron 2 | No translated | |
rs1058164 | CYP2D6*10 CYP2D6 *39 | 1662 | S(G > C) | 77.08 % | Exon 3 | Val136 = SM |
novel | 1673 | R(G > A) | 1.04 % | Exon 3 | Arg140His | |
novel | 2467 | Y(T > C) | 7.29 % | Exon 5 | Leu231Pro | |
novel | 2471 | Y(T > C) | 9.38 % | Exon 5 | His232 = SM | |
rs28371718 | 2576 | M(C > A) | 9.38 % | Exon 5 | Pro267 = SM | |
novel | 2607 | R(G > A) | 100.00 % | Exon 5 | Glu278Lys | |
rs201830078 | 2611 | W(T > A) | 9.38 % | Exon 5 | Met279Lys | |
rs76015180 | 2662 | R(G > A) | 1.09 % | Intron 5 | No translated | |
rs28371722 | 2664 | R(G > A) | 6.52 % | Intron 5 | No translated | |
rs187203531 | 2721 | S(G > C) | 1.09 % | Intron 5 | No translated | |
rs28371726 | 3255 | Y(T > C) | 1.04 % | Exon 7 | His361 = SM | |
novel | 3273 | S(G > C) | 1.04 % | Exon 7 | Giy367 = SM | |
/ | 3350 | K(G > T) | 1.04 % | Intron 7 | No translated | |
rs1985842 | 3385 | M(C > A) | 58.33 % | Intron 7 | No translated | |
rs28578778 | 3394 | Y(T > C) | 3.13 % | Intron 7 | No translated | |
rs28371729 | 3436 | M(C > A) | 2.08 % | Intron 7 | No translated | |
rs2004511 | 3583 | R(A > G) | 44.79 % | Intron 7 | No translated | |
rs28371730 | 3585 | R(G > A) | 59.38 % | Intron 7 | No translated | |
rs28371731 | 3791 | Y(C > T) | 59.38 % | Intron 7 | No translated | |
rs28371732 | 3829 | R(G > A) | 1.04 % | Exon 8 | Ser401 = SM | |
rs769157652 | CYP2D6*27 | 3854 | R(G > A) | 13.54 % | Exon 8 | Glu410Lys |
rs1135840 | CYP2D6*10 CYP2D6 *39 | 4181 | S(G > C) | 100.00 % | Exon 9 | Ser486Thr |
/ | 4375 | Y(C > T) | 1.04 % | 3’UTR | No translated | |
rs116390392 | 4482 | R(G > A) | 59.38 % | 3’UTR | No translated | |
rsr35028622 | 4723 | K(T > G) | 61.40 % | 3’UTR | No translated |