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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
CHRNB1 - Cholinergic Receptor Nicotinic Beta 1 Subunit
Alias:
ACHRB
CHRNB
CMS1D
CMS2A
CMS2C
SCCMS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌肉乙酰胆碱受体由五个亚基组成:两个α亚基和一个β,一个γ和一个δ亚基。这个基因编码乙酰胆碱受体的β亚基。乙酰胆碱结合后,乙酰胆碱受体会发生构象变化,导致穿过质膜的离子通道开放。这个基因的突变与慢通道先天性肌无力综合征有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1140
ENSEMBL:ENSG00000170175
HGNC:1961
UNIPROT:P11230
OMIM:100710
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1140
1
11
12650 bp
56.70
414
4
4
9
CHRNB1 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
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
MGI
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No data available
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Name
CAS Number
Status
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Link
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References Literature
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No Data Found!
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