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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
SMARCB1 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1
Alias:
RDT
CSS3
INI1
SNF5
Snr1
BAF47
INI-1
MRD15
RTPS1
Sfh1p
hSNFS
SNF5L1
SWNTS1
PPP1R144
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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一个复合物的一部分,该复合物缓解抑制性的染色质结构,允许转录机制更有效地访问其靶标。这个编码的核蛋白还可能结合并增强HIV-1整合酶的DNA连接活性。这个基因已被发现是一个肿瘤抑制因子,其突变与恶性成绒癌有关。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:6598
ENSEMBL:ENSG00000099956
HGNC:11103
UNIPROT:Q12824
OMIM:601607
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6598
4
9
51044 bp
44.14
891
13
11
39
SMARCB1 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
Alphabetical
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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