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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
SMARCA2 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2
Alias:
BIS
BRM
SNF2
SWI2
hBRM
NCBRS
Sth1p
BAF190
SNF2L2
SNF2LA
hSNF2a
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是SWI/SNF家族蛋白质的一员,与果蝇的brama蛋白质高度相似。这个家族的成员具有解旋酶和ATP酶活性,被认为可以通过改变那些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质是大型ATP依赖的染色质重塑复合体SNF/SWI的一部分,该复合体对于通常被染色质抑制的基因的转录激活是必需的。已经发现这个基因含有不同异构体的可变剪接转录变异体,该基因包含一个三核苷酸重复(CAG)长度多态性。[由RefSeq,2014年1月提供]
Related ID:
NCBI:6595
ENSEMBL:ENSG00000080503
HGNC:11098
UNIPROT:P51531
OMIM:600014
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6595
7
34
178278 bp
181.28
950
2
5
32
SMARCA2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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