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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
  1. The position is according to the reference sequence AY545216 in Genbank; Not translated: this SNP has no effect on the protein sequence; UTR means untranslated region; SM means synonymous mutation