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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
AMPH - Amphiphysin
Alias:
AMPH1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与突触囊泡细胞质表面相关的蛋白质。部分患有僵硬人综合症且受乳腺癌影响的患者对该蛋白质的自身抗体呈阳性反应。该基因的可变剪接产生两种编码不同异构体的转录变异体。已经描述了其他剪接变异体,但其完整的长序列尚未确定。该基因的一个假基因位于染色体11上[RefSeq,2010年11月提供]。
Related ID:
NCBI:273
ENSEMBL:ENSG00000078053
HGNC:471
UNIPROT:P49418
OMIM:600418
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
273
8
21
247670 bp
76.26
31
--
2
9
AMPH 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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Cell-specific RNA expression
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Interactions
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Acting
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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
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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