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1419 CRYGB

1419

CRYGB

crystallin gamma B

protein-coding

Homo sapiens

基因描述

Type Description
Definition crystallin gamma B

研究结论

Date Results Publications
2017-04-29 12:48:00 Glycation of human gammaB-crystallin 28013006
2015-11-28 11:30:00 Allelic variant frequency of the gamma-crystallin promoter (g(-47) ->a) affects the level of its expression in platelets from cataract patients. 26552302
2013-05-18 10:30:00 Complex heterogeneous mutations in the gammaB crystallin gene have been described resulting in autosomal dominant congenital cataracts with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family. 23288985
2012-02-04 10:04:00 -47C allele of rs2289917 in CRYGB showed the strongest association with cataract. 21941057
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20800603

名称对应

Type IDs
Synonymous CRYG2, CTRCT39
Gene
UniProtKB-ID: CRGB_HUMAN
UniprotKB: P07316
UniParc: UPI00001AE7E2
EMBL: BC117384, M19364, M11971, M11970, AC016697, BC074945, BC117388, BC074944
Ensembl: ENSG00000182187
KO: hsa:1419
Nucleutide sequences
EMBL-CDS: AAX93219.1, AAA52113.1, AAA52109.1, AAH74944.1, AAI17389.1, AAH74945.1, AAI17385.1
Ensembl_TRS: ENST00000260988
Protein sequencees
Ensembl_PRO: ENSP00000260988
RefSeq: XP_016858891.1, NP_005201.2
Others
UniRef100: UniRef100_P07316
UniRef90: UniRef90_P07316
UniRef50: UniRef50_P04344
UniGene: Hs.248102
CCDS: CCDS2380.1

全选

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研究热度

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