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440585 FAM183A

440585

FAM183A

family with sequence similarity 183 member A

protein-coding

Homo sapiens

基因描述

Type Description
Definition family with sequence similarity 183 member A

研究结论

Date Results Publications
2019-05-11 10:18:00 Whole exome sequencing revealed a nonsense variant (c.377G>A; p.W126*) in FAM183A, a novel candidate gene for autosomal recessive intellectual disability. 30500859

名称对应

Type IDs
Gene
UniProtKB-ID: F183A_HUMAN
UniprotKB: A6NL82
UniParc: UPI00015D7728
EMBL: AL139138
Ensembl: ENSG00000186973
KO: hsa:440585
Nucleutide sequences
Ensembl_TRS: ENST00000335282
Protein sequencees
Ensembl_PRO: ENSP00000334415
RefSeq: NP_001094846.2, XP_016856811.1, XP_005270933.1, XP_005270932.1
Others
UniRef100: UniRef100_A6NL82
UniRef90: UniRef90_A6NL82
UniRef50: UniRef50_Q5NC57
UniGene: Hs.657614
CCDS: CCDS44126.1

全选

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研究热度

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