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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
COX18 - Cytochrome C Oxidase Assembly Factor COX18
Alias:
OXA1L2
COX18HS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种细胞色素c氧化酶组装蛋白。这个编码的蛋白对于整合膜蛋白插入线粒体内膜是必需的。它对于细胞色素c氧化酶的组装和活性也是必需的。可变剪接导致多个转录变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:285521
ENSEMBL:ENSG00000163626
HGNC:26801
UNIPROT:Q8N8Q8
OMIM:610428
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
285521
6
6
17398 bp
37.06
13
--
4
7
COX18 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
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No Data Found!
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