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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
MSH2 - MutS Homolog 2
Alias:
FCC1
COCA1
HNPCC
LCFS2
MSH-2
hMSH2
HNPCC1
LYNCH1
MMRCS2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因位点在遗传性非息肉结肠癌(HNPCC)中经常发生突变。当被克隆时,发现它是对大肠杆菌错配修复基因mutS的人类同源物,这与HNPCC中微卫星序列的特征性改变一致(表现为RER+表型)。已发现这个基因的两个转录变异体编码不同的异构体。[由RefSeq,2012年4月提供]
Related ID:
NCBI:4436
ENSEMBL:ENSG00000095002
HGNC:7325
UNIPROT:P43246
OMIM:609309
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4436
39
16
306764 bp
104.74
6666
17
15
114
MSH2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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