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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
APOA5 - Apolipoprotein A5
Alias:
RAP3
APOAV
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种调节血浆甘油三酯水平的重要作用的载脂蛋白,这是冠状动脉疾病的主要风险因素。它是高密度脂蛋白的组成部分,与在大鼠肝脏损伤反应中上调的蛋白质高度相似。这个基因的突变与高甘油三酯血症和类型5的高脂蛋白血症有关。这个基因位于染色体11q23上的载脂蛋白基因簇近端。已经发现了编码相同蛋白质的替代剪接转录变异体。[RefSeq,2009年10月提供]
Related ID:
NCBI:116519
ENSEMBL:ENSG00000110243
HGNC:17288
UNIPROT:Q6Q788
OMIM:606368
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
116519
3
3
3054 bp
41.21
183
3
6
19
APOA5 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)
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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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Type
Name
MGI
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No data available
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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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