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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
COL19A1 - Collagen Type XIX Alpha 1 Chain
Alias:
COL9A1L
D6S228E
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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XIX型胶原的alpha链,这是一种FACIT胶原家族的成员(具有中断螺旋的纤维相关胶原)。虽然这种胶原的功能尚不清楚,但该胶原家族的其他成员与形成纤维的胶原如I型和II型胶原结合,并用于维持细胞外基质的完整性。从该基因产生的转录本具有异常大的3'UTR,尚未完全测序。[RefSeq,2008年7月提供]
Related ID:
NCBI:1310
ENSEMBL:ENSG00000082293
HGNC:2196
UNIPROT:Q14993
OMIM:120165
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1310
8
51
345913 bp
115.22
148
--
3
9
COL19A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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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References Literature
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