Location, amino acid substitution and frequency of SNPs in FCN2
| Locationa | SNPb | Substitution | Frequencyc |
|---|---|---|---|
| 5'-UTR (1B) | c.–4A>G | − | 0.27 (101) |
| Intron 2 (3B) | c.213–7A>G | − | 0.33 (123) |
| Exon 3 (3B) | c.222T>C | Synonymous | 0.33 (123) |
| Intron 3 (3C) | c.269+10G>A | − | 0.26 (91) |
| Exon 5 (5B) | c.337C>T | p.His113Tyr | 0.01 (2) |
| Intron 6 (6B) | c.560+44G>A | − | 0.14 (52) |
| Exon 8 (8.1B) | c.707C>T | p.Thr236Met | 0. 277 (103) |
| Exon 8 (8.1C) | c.772G>T | p.Ala258Ser | 0.14 (51) |
| 3'-UTR (8.2B) | c.987T>G | − | 0.45 (169) |
| 3'-UTR (8.2C) | c.987_988insG | − | 0.01 (2) |