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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
NCAPH - Non-SMC Condensin I Complex Subunit H
Alias:
CAPH
BRRN1
CAP-H
MCPH23
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码barr基因家族的一个成员和condensin复合物的调节亚基。这个复合物是将间期染色质转化为浓缩染色体所必需的。这个基因编码的蛋白质与有丝分裂染色体相关,但在染色体浓缩的早期阶段除外。在间期,蛋白质具有独特的核仁局部化点状分布。已经描述了编码不同蛋白质的可变剪接转录变异体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:23397
ENSEMBL:ENSG00000121152
HGNC:1112
UNIPROT:Q15003
OMIM:602332
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23397
8
18
41326 bp
82.56
40
1
4
18
NCAPH 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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Name
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Status
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Link
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