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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
COL9A2 - Collagen Type IX Alpha 2 Chain
Alias:
MED
EDM2
STL5
DJ39G22.4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了Ⅸ型胶原的三个α链之一,Ⅸ型胶原是透明软骨的主要胶原成分。Ⅸ型胶原是一个三聚体分子,通常在含有Ⅱ型胶原的组织中发现,Ⅱ型胶原是一种纤维胶原。这个链的特殊之处在于,与Ⅸ型胶原的其他两个α链不同,它含有一个共价连接的糖胺聚糖侧链。这个基因的突变与多发性软骨发育不良有关。[由RefSeq在2008年7月提供]
Related ID:
NCBI:1298
ENSEMBL:ENSG00000049089
HGNC:2218
UNIPROT:Q14055
OMIM:120260
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1298
6
32
16798 bp
65.13
819
5
3
11
COL9A2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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
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Name
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Status
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Link
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References Literature
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No Data Found!
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