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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
C8orf34 - Chromosome 8 Open Reading Frame 34
Alias:
VEST1
VEST-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与环AMP依赖性蛋白激酶调节器相关的蛋白质。在这个基因中自然发生的突变与接受化学治疗的患者中严重的毒性,如腹泻和中性粒细胞减少症的风险增加相关。[由RefSeq,2017年3月提供]
Related ID:
NCBI:116328
ENSEMBL:ENSG00000165084
HGNC:30905
UNIPROT:Q49A92
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
116328
11
14
488651 bp
59.43
2
--
3
5
C8orf34 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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