人 MLH1 (NM_001258271) cDNA克隆

Accession: NM_001258271
基因名称: MLH1
基因别名: FCC2; COCA2; HNPCC; hMLH1; HNPCC2
基因描述: Homo sapiens mutL homolog 1 (MLH1), transcript variant 5, mRNA.
种属: Human
CDS区长度: 2064 (查看编码区序列)
翻译后氨基酸长度: 687 (查看氨基酸序列)
Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
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G102529 人 MLH1 (NM_001258271) cDNA克隆 pDONR223 2ug质粒 点击询价

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.[provided by RefSeq, Nov 2009]