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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
NCS1 - Neuronal Calcium Sensor 1
Alias:
FLUP
FREQ
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是神经元钙传感器基因家族的成员,编码主要在中神经元中表达的钙结合蛋白。这个基因编码的蛋白以钙依赖的方式调节G蛋白偶联受体的磷酸化,并可替代钙调素。这个蛋白与分泌颗粒相关联,并调节突触传递和突触可塑性。已经发现这个基因有多个编码不同异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23413
ENSEMBL:ENSG00000107130
HGNC:3953
UNIPROT:P62166
OMIM:603315
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23413
2
8
64900 bp
21.88
6
--
8
11
NCS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
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References Literature
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