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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
CPNE7 - Copine 7
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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copine家族的成员,该家族由依赖钙的膜结合蛋白组成。基因产物包含两个N-端C2结构域和一个von Willebrand因子A结构域。编码的蛋白质可能涉及膜运输。已经发现这个基因的两个可变剪接转录变异体,它们编码不同的异构体。[由RefSeq提供,2008年11月]
Related ID:
NCBI:27132
ENSEMBL:ENSG00000178773
HGNC:2320
UNIPROT:Q9UBL6
OMIM:605689
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27132
13
15
21489 bp
70.29
47
--
5
4
CPNE7 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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