Table 1.
Polymorphisms and frequency distribution of CYP3A4 in Uyghur population
# | SNP ID | Position | Region | Allele | Effect | Flanking Sequence | MAF |
---|---|---|---|---|---|---|---|
1 | / | -747C > G | Promoter | CYP3A4*1F | / | TGTACAGCAC S CTGGTAGGGA | 0.025 |
2 | / | -667C > T | Promoter | CYP3A4*1W | / | GGGAAACAGG Y GTGGAAACAC | 0.005 |
3 | new1 | -549C > G | Promoter | / | AGGAAAGACT S TAAGAGAAGG | 0.005 | |
4 | rs2740574 | -392A > G | Promoter | CYP3A4*1B | / | GACAAGGGCA R GAGAGAGGCG | 0.015 |
5 | / | -62C > A | 5’UTR | CYP3A4*1D | / | CATAGCCCAG M AAAGAGCAAC | 0.005 |
6 | rs55913187 | 3858C > T | Intron1 | Not translated | TAATCATTGC Y GTCAGAGTTA | 0.015 | |
7 | new2 | 5939A > T | Intron5 | Not translated | TTTTCATCCC W ATTAGAGGCA | 0.005 | |
8 | / | 13908G > A | Exon5 | CYP3A4*8 | 130R > Q | AAGAGATTAC R ATCATTGCTG | 0.005 |
9 | new3 | 15380C > T | Intron6 | Not translated | TCACACCCAG Y GTAGGGCCAG | 0.015 | |
10 | / | 15727G > C | Intron7 | CYP3A4*1P | Not translated | TAAGTATGTG S ACTACTATTT | 0.015 |
11 | / | 15753T > C | Intron7 | T15781G* | Not translated | TATTTATCTT Y CTCTCTTAAA | 0.025 |
12 | / | 15977T > C | Intron7 | C78013T* | Not translated | AACTTTCTGC Y TCTATGGATT | 0.740 |
13 | 16613C > T | Intron7 | C78649T* | Not translated | ACTGCTGTAG Y GGTGCTCCTT | 0.115 | |
14 | new4 | 16934A > T | Exon8 | 264T > S | CCTCGAAGAT W CACAAAAGGT | 0.005 | |
15 | new5 | 17864A > C | Intron9 | Not translated | AGAGGCATGC M GGCATAGATA | 0.005 | |
16 | rs2242480 | 20230G > A | Intron10 | CYP3A4*1G | Not translated | TGAGTGGATG R TACATGGAGA | 0.115 |
17 | rs4986910 | 23172T > C | Exon12 | CYP3A4*3 | 445M > T | TGCATTGGCA Y GAGGTTTGCT | 0.005 |
18 | new7 | 25721A > G | Intron12 | Not translated | ATTACTCCAT R GAGATCAGAA | 0.130 | |
19 | new8 | 25925C > T | Exon13 | 499T > T | GGGATGGCAC Y GTAAGTGGAG | 0.010 | |
20 | new9 | 25931T > C | Exon13 | 501S > S | GCACCGTAAG Y GGAGCCTGAA | 0.005 | |
21 | new10 | 26759G > C | 3’UTR | / | TGGTGGACTC S CCTGTAATCT | 0.005 |
MAF: minor allele frequency.