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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
ASCC3 - Activating Signal Cointegrator 1 Complex Subunit 3
Alias:
RNAH
HELIC1
ASC1p200
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于解旋酶家族的蛋白质,解旋酶参与ATP依赖的核酸双链的解旋。编码的蛋白质是激活信号整合子1复合物的主要亚基,该复合物参与DNA修复和抗烷基化损伤。交替剪接导致多个转录变异体。[RefSeq,2013年9月提供]
Related ID:
NCBI:10973
ENSEMBL:ENSG00000112249
HGNC:18697
UNIPROT:Q8N3C0
OMIM:614217
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10973
7
42
373136 bp
251.46
110
--
4
18
ASCC3 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
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Interactions
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Acting
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
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