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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
F8A3 - Coagulation Factor VIII Associated 3
Alias:
HAP40
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是染色体X上一个重复区域的组成部分,在F8基因的第22内含子中重复一次,并在更接近Xq端粒的地方重复两次。这个记录代表了最端部的拷贝。虽然它的功能尚不清楚,但这个基因在小鼠中保守的观察暗示它具有一定的功能。与因子VIII不同,这个基因在各种细胞类型中大量转录。[由RefSeq,2008年7月提供]
Related ID:
NCBI:474384
ENSEMBL:ENSG00000277150
HGNC:31850
UNIPROT:P23610
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
474384
1
1
1707 bp
39.10
--
--
2
12
F8A3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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