例如:"NBL1", "4681", "drought"
收藏
60506 NYX

60506

NYX

nyctalopin

protein-coding

Homo sapiens

基因描述

Type Description
Definition nyctalopin

研究结论

Date Results Publications
2020-07-11 10:04:00 Frameshift mutation in NYX gene is associated with congenital stationary night blindness. 31826698
2016-08-06 11:15:00 Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. 26234941
2015-09-12 11:35:00 Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. 25802485
2014-03-15 12:26:00 Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. 23289809
2013-11-23 11:58:00 A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. 23406521

名称对应

Type IDs
Synonymous CLRP, CSNB1, CSNB1A, CSNB4, NBM1
Gene
UniProtKB-ID: NYX_HUMAN
UniprotKB: Q9GZU5
UniParc: UPI0000130B37
EMBL: Z93015, BC112242, CH471141, AJ278865, AF254868
Ensembl: ENSG00000188937
KO: hsa:60506
Nucleutide sequences
EMBL-CDS: AAG42685.1, CAC19014.1, EAW59401.1, EAW59399.1, AAI12243.1
Ensembl_TRS: ENST00000378220, ENST00000342595
Protein sequencees
Ensembl_PRO: ENSP00000367465, ENSP00000340328
RefSeq: NP_072089.1, NP_001365406.1
Others
UniRef100: UniRef100_Q9GZU5
UniRef90: UniRef90_Q9GZU5
UniRef50: UniRef50_Q9GZU5
UniGene: Hs.302019
CCDS: CCDS14256.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员