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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
SYNGR1 - Synaptogyrin 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与神经元细胞中突触前囊泡相关的整合膜蛋白。这个蛋白质的确切功能尚不清楚,但类似的小鼠蛋白质的研究表明,它在突触可塑性中发挥作用,而不是在突触传递中必需。这个基因产物属于突触整合蛋白基因家族。已经发现了三种可变剪接的变异体,编码三种不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9145
ENSEMBL:ENSG00000100321
HGNC:11498
UNIPROT:O43759
OMIM:603925
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9145
3
4
35585 bp
25.46
18
--
5
8
SYNGR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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