| Entrez gene ID | | 4292 |
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| Official gene symbol | | MLH1 |
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| Full name | | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
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| Aliases | | ,COCA2,FCC2,HNPCC,HNPCC2,MGC5172,hMLH1, |
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| Gene summary | | This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined. |
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| Location | | Chromosome: 3 Locus: 3p21.3 |
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| Gene position | | 37034841 - 37092337 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 57497 bp |
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| Gene sequence |
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| OMIM ID | | 120436 |
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