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Table 1 SNP-based LOH markers used in this study.

From: Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers

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
  1. aSNP 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.