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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
CACNA1I - Calcium Voltage-gated Channel Subunit Alpha1 I
Alias:
Cav3.3
NEDSIS
ca(v)3.3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个电压门控钙通道的形成孔道的α亚基。编码的蛋白质是被称为低电压激活的T型钙通道的子家族成员。这个蛋白质的特征是与其他T型钙通道相比,激活和失活较慢。这个蛋白质可能参与神经元的钙信号传导。交替剪接导致多个转录变异体。[RefSeq,2011年10月提供]
Related ID:
NCBI:8911
ENSEMBL:ENSG00000100346
HGNC:1396
UNIPROT:Q9P0X4
OMIM:608230
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8911
4
37
118983 bp
245.10
172
2
8
8
CACNA1I 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
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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