Table I.
Selected SNPs and detailed information on the corresponding base and amino acid exchanges, MAF and TaqMan® assay used for genotyping.
| Gene | Location | db SNP ID (rs no.)a | Base change | Aminoacid change | MAF (%)a | TaqMan® assay |
|---|---|---|---|---|---|---|
| MLH1 | 3p22.2 | rs1799977 | A→G | Ile219Val | 13.0 | C__1219076_20 |
| MSH3 | 5q14.1 | rs26279 | A→G | Thr1045Ala | 28.0 | C__800002_1_ |
| MSH4 | 1p31.1 | rs5745325 | G→A | Ala97Thr | 21.3 | C__3286081_10 |
| PMS1 | 2q32.2 | rs5742933 | G→C | –b | 21.9 | C__29329633_10 |
| MLH3 | 14q24.3 | rs175080 | G→A | Pro844Leu | 36.4 | C__1082805_10 |
| MSH6 | 2p16.3 | rs1042821 | C→T | Gly39Glu | 20.1 | C__8760558_10 |
a
According to http://www.ncbi.nlm.nih.gov/projects/SNP/ (Accessed February 15, 2017).
b
SNP located on 5′UTR. MAF, minor allele frequency; SNP, single nucleotide polymorphism.