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54938 SARS2

54938

SARS2

seryl-tRNA synthetase 2, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition seryl-tRNA synthetase 2, mitochondrial

研究结论

Date Results Publications
2016-04-23 10:28:00 These data further support that the mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with hearing loss. 25968158
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 NF-Y type CCAAT boxes are found preferentially in bidirectional Mrps12/Sarsm promoters, but many such promoters lack them and must be regulated in another way. 19439209
2010-01-21 00:00:00 Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene. 16133542

名称对应

Type IDs
Synonymous SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS
Gene
UniProtKB-ID: SYSM_HUMAN
UniprotKB: Q9NP81
UniParc: UPI000000DA00, UPI00017A6C34
EMBL: BC001020, BC042912, AK293414, AK000457, AB029948, AC011455
Ensembl: ENSG00000283104, ENSG00000104835
KO: hsa:54938
Nucleutide sequences
EMBL-CDS: AAH42912.1, BAG56921.1, AAH01020.2, BAA99557.1, BAA91176.1
Ensembl_TRS: ENST00000635245, ENST00000600042, ENST00000634687, ENST00000221431
Protein sequencees
Ensembl_PRO: ENSP00000489453, ENSP00000221431, ENSP00000489539, ENSP00000472847
RefSeq: NP_060297.1, NP_001139373.1
Others
UniRef100: UniRef100_Q9NP81
UniRef90: UniRef90_Q9NP81
UniRef50: UniRef50_Q9N0F3
UniGene: Hs.709416
CCDS: CCDS33017.1, CCDS54265.1

全选

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研究热度

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