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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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SMARCC2 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2
Alias:
CSS8
Rsc8
BAF170
CRACC2
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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,其成员展示出解旋酶和ATP酶活性,被认为可以通过改变这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物SNF/SWI的一部分,并含有预测的亮氨酸拉链基序,这是许多转录因子的典型特征。已发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6601
ENSEMBL:ENSG00000139613
HGNC:11105
UNIPROT:Q8TAQ2
OMIM:601734
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6601
13
29
27125 bp
132.88
195
2
7
26
SMARCC2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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