TABLE 1.
CYP2C9 polymorphisms genotyped in liver samples
The translation start site A (in ATG) is taken as position 1.
| SNP Number | rs Number | Position | Gene Region | Nucleotide or Amino Acid Changes | Note |
|---|---|---|---|---|---|
| 1 | −8897 | Promoter | T>C | ||
| 2 | −7419 | Promoter | A>G | Link to *3, H1 | |
| 3 | −5813 | Promoter | A>G | Link to *3, H1 | |
| 4 | −5661 | Promoter | C>A | Link to *3, H1 | |
| 5 | rs74150723 | −4877 | Promoter | G>A | |
| 6 | rs12251841 | −4302 | Promoter | C>T | |
| 7 | −3849 | Promoter | G>A | H2 | |
| 8 | rs61886768 | −3597 | Promoter | A>G | |
| 9 | −3579 | Promoter | G>A | H2 | |
| 10 | rs61886769 | −3360 | Promoter | T>C | H2 |
| 11 | rs12782374 | −3089 | Promoter | G>A | |
| 12 | rs71486745 | −2663 | Promoter | del GT | |
| 13 | rs9332092 | −1911 | Promoter | T>C | Link to *3, H1 |
| 14 | rs9332093 | −1885 | Promoter | C>G | Link to *3, H1 |
| 15 | rs9332096 | −1565 | Promoter | C>T | Monomorphic |
| 16 | rs61604699 | −1537 | Promoter | G>A | Link to *3, H1 |
| 17 | rs4918758 | −1188 | Promoter | T>C | |
| 18 | rs9332098 | −981 | Promoter | G>A | Link to *3, H1 |
| 19 | rs1799853 | cDNA 430 | Exon 3 | C>T, R144C, *2 | |
| 20 | rs7900194 | cDNA 449 | Exon 3 | G>A, R150H, *8 | Monomorphic |
| 21 | rs9332131 | cDNA 818 | Exon 5 | del A, frame shift | Monomorphic |
| 22 | rs28371685 | cDNA1003 | Exon 7 | C>T, R335W, *11 | Monomorphic |
| 23 | rs1057910 | cDNA1075 | Exon 7 | A>C, I359L, *3 | H1 |
| 24 | rs28371686 | cDNA1080 | Exon 7 | C>G, D360E, *5 | Monomorphic |
| 25 | rs2298037 | Intron 8 | C>T | Marker SNP | |
| 26 | rs1057911 | cDNA1425 | Exon 9 | A>T, G457G | Marker SNP, link to *3, H1 |
| 27 | rs9332239 | cDNA1465 | Exon 9 | C>T, P489S, *12 | Monomorphic |
| 28 | rs9332242 | cDNA1581 | Exon 9 | C>G, 3′UTR | Marker SNP |
UTR, untranslated region.