人 MLH1 (NM_001167619) cDNA克隆

基本信息

Accession: NM_001167619
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 4, mRNA.
种属: Human
CDS区长度: 1548 (查看编码区序列)
翻译后氨基酸长度: 515 (查看氨基酸序列)
Transcript Variant: This variant (4) contains a distinct 5'-terminal exon and lacks a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, 6, and 7 all encode the same isoform (3).

订购信息

产品编号 产品名称 载体 规格 价格
G102528 人 MLH1 (NM_001167619) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 MLH1 (NM_000249) cDNA克隆 transcript variant 1
人 MLH1 (NM_001167617) cDNA克隆 transcript variant 2
人 MLH1 (NM_001167618) cDNA克隆 transcript variant 3
人 MLH1 (NM_001167619) cDNA克隆 transcript variant 4
人 MLH1 (NM_001258271) cDNA克隆 transcript variant 5
人 MLH1 (NM_001258273) cDNA克隆 transcript variant 6
人 MLH1 (NM_001258274) cDNA克隆 transcript variant 7

基因简介

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]

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