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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
AGAP1 - ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 1
Alias:
GGAP1
AGAP-1
CENTG2
cnt-g2
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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ADP-核糖基化因子GTP酶激活蛋白家族的成员,参与膜转运和细胞骨架动力学。这个基因作为末端内质网上的适应蛋白相关蛋白复合物3的直接调节因子发挥作用。已经发现这个基因的多个转录变异体,编码不同的异构体。[RefSeq,2011年10月提供]
Related ID:
NCBI:116987
ENSEMBL:ENSG00000157985
HGNC:16922
UNIPROT:Q9UPQ3
OMIM:608651
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
116987
3
18
637751 bp
94.47
160
--
2
14
AGAP1 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
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
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References Literature
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