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23169 SLC35D1

23169

SLC35D1

solute carrier family 35 member D1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 35 member D1

研究结论

Date Results Publications
2017-08-05 10:55:00 there is a positive association between the GWAS reported rs3762318 and leprosy, and SLC35D1 and IL23R might be the causal genes 27712858
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 Searched for SLC35D1 mutations, identified four novel mutations in three Schneckenbecken dysplasia families. All mutations result in loss of function. No SLC35D1 mutations were id'd in all patients with other spondylodysplastic dysplasias group diseases. 19508970
2010-01-21 00:00:00 Loss of function mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia. 17952091

名称对应

Type IDs
Synonymous SHNKND, UGTREL7
Gene
UniProtKB-ID: S35D1_HUMAN
UniprotKB: Q9NTN3
UniParc: UPI0001914BA7, UPI0000137AF8
EMBL: AB044343, D87449, BC093786, AK296449, BC112031, AL133320, AK289800
Ensembl: ENSG00000116704
KO: hsa:23169
Nucleutide sequences
EMBL-CDS: BAB18586.1, BAF82489.1, AAI12032.1, BAH12358.1, BAA13390.1, AAH93786.1
Ensembl_TRS: ENST00000235345
Protein sequencees
Ensembl_PRO: ENSP00000235345
RefSeq: NP_055954.1, XP_006710541.1, XP_011539372.1
Others
UniRef100: UniRef100_Q9NTN3
UniRef90: UniRef90_Q9NTN3
UniRef50: UniRef50_Q9NTN3
UniGene: Hs.213642
CCDS: CCDS636.1

全选

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研究热度

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