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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
C1QB - Complement C1q B 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
这个基因编码血清补体亚组分C1q的B链多肽,与C1r和C1s结合形成血清补体系统的第一个成分。C1q由18条多肽链组成,包括6条A链、6条B链和6条C链。每条链都包含一个N端胶原样区域和一个C端C1q球形域。C1q缺乏症与系统性红斑狼疮和肾小球肾炎有关。[由RefSeq提供,2016年12月]
Related ID:
NCBI:713
ENSEMBL:ENSG00000173369
HGNC:1242
UNIPROT:P02746
OMIM:120570
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
713
3
3
8402 bp
26.72
91
3
5
16
C1QB 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)
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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
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Mutations
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Related Drugs
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Status
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Link
No data available
References Literature
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