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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
COL10A1 - Collagen Type X Alpha 1 Chain
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因编码X型胶原的α链,这是一种在软骨内骨化过程中由肥大软骨细胞表达的小链胶原。与第八型胶原不同,另一种小链胶原,X型胶原是一个同源三聚体。该基因中的突变与Schmid型骨干软骨发育不良(SMCD)和日本型脊柱骨干发育不良(SMD)有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1300
ENSEMBL:ENSG00000123500
HGNC:2185
UNIPROT:Q03692
OMIM:120110
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1300
4
3
98236 bp
66.16
354
1
15
18
COL10A1 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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Interactions
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Related Mouse Models
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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