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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
COL8A1 - Collagen Type VIII Alpha 1 Chain
Alias:
C3orf7
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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VIII型胶原的两种α链之一。基因产物是一种短链胶原,是角膜内皮基底膜的主要组成部分。VIII型胶原原纤维可以是同型或异型三聚体。已经观察到了编码相同蛋白质的可变剪接转录变异体。[RefSeq,2011年12月提供]
Related ID:
NCBI:1295
ENSEMBL:ENSG00000144810
HGNC:2215
UNIPROT:P27658
OMIM:120251
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1295
2
4
160624 bp
73.36
23
--
6
9
COL8A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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Mutations
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Related Drugs
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CAS Number
Status
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Link
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References Literature
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