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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
SNTB1 - Syntrophin Beta 1
Alias:
A1B
SNT2
BSYN2
59-DAP
DAPA1B
SNT2B1
TIP-43
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
杜氏肌营养不良蛋白是一种大型的杆状细胞骨架蛋白,存在于肌肉纤维的内表面。杜氏肌营养不良蛋白在杜氏肌营养不良患者体内缺失,在贝克尔肌营养不良患者体内含量减少。这个基因编码的蛋白质是一种外围膜蛋白,与杜氏肌营养不良蛋白和相关蛋白质相关联。这个基因是合成素基因家族的成员,该家族至少包含其他两个结构相关的基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6641
ENSEMBL:ENSG00000172164
HGNC:11168
UNIPROT:Q13884
OMIM:600026
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6641
4
7
276291 bp
58.06
33
--
6
14
SNTB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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
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Name
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Status
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Link
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References Literature
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