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285600 KIAA0825

285600

KIAA0825

KIAA0825

protein-coding

Homo sapiens

基因描述

Type Description
Definition KIAA0825

研究结论

Date Results Publications
2021-04-13 10:08:00 Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A. 32147526
2019-06-29 12:18:00 Data indicate a catalog of genes include important in limb patterning including KIAA0825 (C5orf36), suggesting a better diagnosis and understanding of the biology of polydactyly. 30982135
2017-07-08 12:16:00 Disruption of the orphan receptor ESRRG and disruption of KIAA0825 identified in a subject with hearing loss and mild developmental delay. 27381092
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous C5orf36
Gene
UniProtKB-ID: K0825_HUMAN
UniprotKB: Q8IV33
UniParc: UPI0001D896E7, UPI0001D3B505, UPI00000746AF
EMBL: AC117521, BC035515, AK130941, CH471084, AB020632, AC104127, BF514032, AC025766, AC117528, AC093311, AC010448
Ensembl: ENSG00000185261
KO: hsa:285600
Nucleutide sequences
EMBL-CDS: BAA74848.1, BAC85469.1, EAW96025.1, AAH35515.1
Ensembl_TRS: ENST00000329378, ENST00000513200
Protein sequencees
Ensembl_PRO: ENSP00000331385, ENSP00000424618
RefSeq: NP_001372649.1, XP_011541637.1, NP_775936.1, XP_011541636.1, XP_016864862.1, XP_011541635.1, XP_011541626.1, XP_011541633.1, XP_011541629.1, XP_011541627.1, XP_011541632.1, NP_001372641.1, NP_001372651.1, XP_011541630.1, NP_001372658.1, XP_016864864.1, NP_001372645.1, NP_001139150.1, NP_001372642.1, NP_001372650.1, NP_001372648.1, NP_001372653.1, NP_001372659.1, NP_001375254.1, NP_001372652.1, XP_016864866.1, NP_001372644.1, NP_001372643.1, NP_001372657.1, XP_011541631.1, NP_001372646.1, XP_016864863.1
Others
UniRef100: UniRef100_Q8IV33
UniRef90: UniRef90_Q8IV33
UniRef50: UniRef50_Q8IV33
UniGene: Hs.425123
CCDS: CCDS4070.1

全选

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