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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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人类
CNGA1 - Cyclic Nucleotide Gated Channel Subunit Alpha 1
Alias:
CNCG
CNG1
RP49
CNCG1
CNG-1
RCNC1
RCNCa
RCNCalpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质参与光转导。与另一种蛋白质一起,编码的蛋白质在质膜中形成一种cGMP门控阳离子通道,允许视杆光感受器的去极化。这是光转导途径的最后一步。这个基因的缺陷是视网膜色素变性常染色体隐性(ARRP)疾病的一个原因。已经发现这个基因的多个转录变异体。[RefSeq,2019年10月提供]
Related ID:
NCBI:1259
ENSEMBL:ENSG00000198515
HGNC:2148
UNIPROT:P29973
OMIM:123825
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1259
5
11
80705 bp
79.13
422
4
4
7
CNGA1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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