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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
COL12A1 - Collagen Type XII Alpha 1 Chain
Alias:
UCMD2
BTHLM2
EDSMYP
COL12A1L
BA209D8.1
DJ234P15.1
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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XII型胶原的alpha链,是FACIT(具有中断的三股螺旋的纤维相关胶原)胶原家族的成员。XII型胶原是一个同三元组,与I型胶原结合,这种结合被认为可以修改I型胶原纤维与周围基质之间的相互作用。已经识别出可替代剪接的转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1303
ENSEMBL:ENSG00000111799
HGNC:2188
UNIPROT:Q99715
OMIM:120320
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1303
10
66
121728 bp
333.15
2527
4
6
11
COL12A1 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)
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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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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