人 MLH1 (NM_001167617) cDNA克隆

Accession: NM_001167617
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 2, mRNA.
种属: Human
CDS区长度: 1977 (查看编码区序列)
翻译后氨基酸长度: 658 (查看氨基酸序列)
Transcript Variant: This variant (2) contains a distinct 5'-terminal exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
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G102526 人 MLH1 (NM_001167617) 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]