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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
FARSB - Phenylalanyl-tRNA Synthetase Subunit Beta
Alias:
FRSB
RJBS
PheHB
PheRS
FARSLB
RILDBC
HSPC173
NEDBLLA
RILDBC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个高度保守的酶,属于IIc亚家族的氨基酸tRNA合成酶类。这种酶包含调节性β亚单位,与两个催化α亚单位形成四聚体。在ATP存在下,这个四聚体负责将L-苯丙氨酸连接到适当tRNA的末端腺苷酸上。在染色体10上发现了一个假基因。可选剪接导致多个转录变异体。[RefSeq,2015年1月提供]
Related ID:
NCBI:10056
ENSEMBL:ENSG00000116120
HGNC:17800
UNIPROT:Q9NSD9
OMIM:609690
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10056
3
17
89194 bp
66.12
136
3
3
12
FARSB 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
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Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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