Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1050152

Hard Link
rs1050152 is a snp on gene SLC22A4 (solute carrier family 22 (organic cation/ergothioneine transporter), member 4)

GeneSLC22A4 Chromosome number 5 Chromosome position 132340627
Alleles C/T Minor Allele T Minor Allele Frequency 0.1344
Notation 1507C>T, Leu327Phe, L503F Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense intron variant, exon 9 near IRF1 gene, increased transport activity leading to inappropriate transport of organic cations across the intestinal epithelial barrier. [PMID: 27775675]
Gene Function
The SLC22A4 gene provides instructions for making the organic cation transporter OCTN1. It is fone in high levels in immune-related organs and tissues. The SLC22A4 gene expression is increased by inflammation. Genetic polymorphisms have been found to affect SLC22A4 gene expression and to be associated with autoimmune diseases such as rheumatoid arthritis (RA),Chrohn's Disease (CD) and type 1 diabetes (T1D). Polymorphisms are affected by a transcription regulator, RUNX-1 and polymorphisms of RUNX-1 involved in autoimmune diseases such as psoriasis, systemic lupus erythematosus (SLE), autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD). Variants in SLC22A4 affect the metabolism of some drugs due to a change in their excretion by the kidney.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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