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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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人类
AP2S1 - Adaptor Related Protein Complex 2 Subunit Sigma 1
Alias:
AP17
FBH3
HHC3
FBHOk
CLAPS2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
两个主要与氯囊素相关的适配器复合物之一,AP-2,是一个异四聚体,与质膜相关。这个复合物由两个大链、一个中等链和一个小链组成。这个基因编码这个复合物的小链。可变剪接导致多个转录变异体。[RefSeq,2014年7月提供]
Related ID:
NCBI:1175
ENSEMBL:ENSG00000042753
HGNC:565
UNIPROT:P53680
OMIM:602242
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1175
7
5
12680 bp
17.02
91
1
6
14
AP2S1 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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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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