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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
DCTPP1 - DCTP Pyrophosphatase 1
Alias:
CDA03
RS21C6
XTP3TPA
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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dCTP焦磷酸酶,可以将dCTP转化为dCMP和无机焦磷酸盐。编码的蛋白质还对dTTP和dATP显示弱的活性,但对dGTP没有活性。这个蛋白质可能负责在DNA合成后消除多余的dCTP,并防止CpG岛的过度甲基化。已经发现这个基因有三个转录变异体,一个编码蛋白质,其他两个不编码蛋白质。[由RefSeq,2015年12月提供]
Related ID:
NCBI:79077
ENSEMBL:ENSG00000179958
HGNC:28777
UNIPROT:Q9H773
OMIM:615840
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79077
1
3
6416 bp
18.68
13
--
2
10
DCTPP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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