rs1062158
This variant is located in the NDFIP1 gene.
▶Research that mentions this SNP (1)
▶Functional relevance for multiple sclerosis-associated genetic variantsFunctionalXiang Lin et al.(2015)· Immunogenetics
Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.
About NDFIP1
The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]
View all NDFIP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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