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84189 SLITRK6

84189

SLITRK6

SLIT and NTRK like family member 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition SLIT and NTRK like family member 6

研究结论

Date Results Publications
2018-05-12 11:03:00 Analysis of two exons of SLITRK6 gene in a Moroccan family identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations. 29551497
2018-02-10 10:50:00 Human cytomegalovirus downregulates SLITRK6 expression through IE2. 27530937
2014-05-03 11:16:00 SLITRK6 gene nonsense mutation is associated with progressive auditory neuropathy in humans. 23946138
2013-07-06 10:38:00 SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness. 23543054

名称对应

Type IDs
Synonymous DFNMYP
Gene
UniProtKB-ID: SLIK6_HUMAN
UniprotKB: Q9H5Y7
UniParc: UPI000004C9D6
EMBL: AL137517, BC101073, AK021931, BC101071, AK292793, CH471093, AK026427, BX648640, BC101070, AL162373, BC101072
Ensembl: ENSG00000184564
KO: hsa:84189
Nucleutide sequences
EMBL-CDS: AAI01073.1, AAI01071.1, CAH10557.1, CAB70783.3, BAB15480.1, AAI01074.1, AAI01072.1, BAB13941.1, BAF85482.1, EAW80611.1
Ensembl_TRS: ENST00000643778, ENST00000647374
Protein sequencees
Ensembl_PRO: ENSP00000496428, ENSP00000495507
RefSeq: NP_115605.2
Others
UniRef100: UniRef100_Q9H5Y7
UniRef90: UniRef90_Q9H5Y7
UniRef50: UniRef50_Q8C110
UniGene: Hs.525105
CCDS: CCDS41903.1

全选

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