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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
GARS1 - Glycyl-tRNA Synthetase 1
Alias:
GARS
HMN5
CMT2D
DSMAV
GlyRS
HMN5A
SMAD1
SMAJI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码甘氨酸-tRNA合成酶,是一种将tRNA与相应的氨基酸充电的氨基酸酰-tRNA合成酶。编码的酶是一个属于II类tRNA合成酶家族的(alpha)2二聚体。已经证明它是人类自身免疫性疾病,多发性肌炎或皮肌炎的自身抗体靶点。已经发现这个基因的两个转录变异体,编码不同的异构体。[RefSeq,2015年10月提供]
Related ID:
NCBI:2617
ENSEMBL:ENSG00000106105
HGNC:4162
UNIPROT:P41250
OMIM:600287
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2617
2
17
39299 bp
83.17
659
7
8
37
GARS1 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
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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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