Table 2 NAT8 genomic region SNPs identified by resequencing in random Estonian population samples (n = 42)
Region | Locationa | dbSNP rs# | SNPb | Codon change | MAF |
|---|---|---|---|---|---|
5' upstream | -1255 | rs4852954 | T/C | - | 0.25 |
| Â | -1153 | rs4852953 | A/G | - | 0.226 |
| Â | -1152 | rs4852952 | C/T | - | 0.226 |
| Â | -1041 | rs4852951 | G/C | - | 0.238 |
| Â | -911 | rs2280506 | T/C | - | 0.083 |
| Â | -803 | rs2280507 | C/T | - | 0.071 |
Exon1 | -763 | - | T/C | - | 0.012 (S) |
Intron1 | -365 | rs6744273 | A/G | - | 0.071 |
| Â | -222 | - | T/G | - | 0.012 (S) |
Exon2 | 41 | - | C/T | Arg-His | 0.024 |
| Â | 218 | - | G/A | Ala-Val | 0.012 (S) |
| Â | 362 | - | A/G | Met-Thr | 0.012 (S) |
| Â | 390 | - | G/T | Pro-Pro | 0.012 (S) |
| Â | 428 | rs13538 | A/G | Phe-Ser | 0.167 |
3'downstream | 859 | rs1879662 | G/A | - | 0.071 |