Table 1.
Gene | SNPa | location | dbSNP reference IDb |
---|---|---|---|
MLH1 | c.1-93G>A | Promoter | rs1800734 |
c.453+79A>G | Intron5 | rs4234259 | |
c.655A>G [p.I219V] | Exon8 | rs1799977 | |
c.790+955C>A | Intron9 | rs1558528 | |
c.791-1406C>T | Intron9 | rs4647269 | |
c.791-488A>G | Intron9 | rs4647277 | |
c.1038+86T>C | Intron11 | rs2286939 | |
c.1039-78A>G | Intron11 | rs11129748 | |
c.1668-19A>G | Intron14 | rs9876116 | |
c.1990-121C>T | Intron17 | rs2241031 | |
MSH2 | c.1076+1681G>T | Intron6 | rs10191478 |
c.1077-80G>A | Intron6 | rs2347794 | |
c.1276+1349T>A | Intron7 | rs3771272 | |
c.1276+1394A>T | Intron7 | rs3771273 | |
c.1277-212T>A | Intron7 | rs1981928 | |
c.1277-118G>A | Intron7 | rs1981929 | |
c.1386+719T>C | Intron8 | rs7602094 | |
c.1387-914A>G | Intron8 | rs6711675 | |
c.1511-91G>T | Intron9 | rs3732182 | |
c.1511-9A>T | Intron9 | rs12998837 | |
c.1661+12G>A | Intron10 | rs3732183 | |
c.1759+107A>G | Intron11 | rs3764959 | |
c.1759+183G>A | Intron11 | rs3764960 | |
c.1760-1207C>T | Intron11 | rs3821227 | |
c.2006-6T>C | Intron12 | rs2303428 | |
c.2210+175G>A | Intron13 | rs4583514 | |
c.2210+274T>G | Intron13 | rs4608577 | |
c.2635-214T>C | Intron15 | rs2042649 |
a SNP nomenclature reflecting the recommendations of Human Genome Variation Society; bAccording to the dbSNP at http://www.ncbi.nlm.nih.gov/SNP/index.html. For the determination of SNP location, the cDNA sequence alignements have been performed using NCBI RefSeq NM_000249.2 with genomic contigs NT_005580.6 and NT_022517.17 for the MLH1, and NM_000251.2 with genomic contig NT_022184.14 for the MSH2 gene.