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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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人类
FARS2 - Phenylalanyl-tRNA Synthetase 2, Mitochondrial
Alias:
FARS1
PheRS
SPG77
COXPD14
HSPC320
mtPheRS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个将苯丙氨酸转移到相应的tRNA的蛋白质。这个蛋白质定位在线粒体上,并在线粒体蛋白质翻译中发挥作用。这个基因的突变可能导致联合氧化磷酸化缺陷14(Alpers脑病)。可变剪接导致多个转录变异体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:10667
ENSEMBL:ENSG00000145982
HGNC:21062
UNIPROT:O95363
OMIM:611592
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10667
18
7
521650 bp
52.36
457
2
3
11
FARS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
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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Cell-specific RNA expression
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Name
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No data available
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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