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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
SMARCAD1 - SWI/SNF-related, Matrix-associated Actin-dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1
Alias:
HRZ
TYS
ETL1
HEL1
ADERM
BASNS
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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SNF家族中的螺旋酶蛋白成员。编码的蛋白质在通过调节组蛋白H3/H4脱乙酰作用恢复异染色质组织和在DNA复制后传播表观遗传模式方面发挥着关键作用。这个基因的突变与无汗症有关。已经观察到这个基因的替代剪接转录变体编码多种异构体。[RefSeq,2011年12月提供]
Related ID:
NCBI:56916
ENSEMBL:ENSG00000163104
HGNC:18398
UNIPROT:Q9H4L7
OMIM:612761
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56916
11
24
83685 bp
117.40
56
4
5
28
SMARCAD1 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
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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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