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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
SYT1 - Synaptotagmin 1
Alias:
P65
SYT
BAGOS
SVP65
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码突触结合蛋白家族的成员。突触结合蛋白是突触囊泡的整合膜蛋白,在囊泡运输和分泌过程中作为钙离子传感器。编码的蛋白质参与触发神经递质在响应钙结合的突触处释放。这个基因的突变与Baker-Gordon综合征有关。[由RefSeq,2023年1月提供]
Related ID:
NCBI:6857
ENSEMBL:ENSG00000067715
HGNC:11509
UNIPROT:P21579
OMIM:185605
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6857
16
11
588027 bp
47.57
58
2
11
13
SYT1 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)
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
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
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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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