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SNP information rs2631367

RS2631367

Normal allele: GG

OCTN carnitine transporter polymorphism is associated with inflammatory bowel disease, Crohn's disease.

Polymorphism rs2631367 is related to topics like this:

CPT2 disease

A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...

Research and publications:

  15107849   Functional variants of OCTN cation transporter genes are associated with Crohn disease.

  15955786   Polymorphisms of cation transporter genes DLG5 and OCTN in Crohn's disease.

  16255050   Evidence for shared genetic control of inflammatory pathways in Crohn's disease and psoriatic arthritis.

  16796743   Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.

  17667713   Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.

  17786191   rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: a combined analysis of IL23R, CARD15 and OCTN1/2 variants.

  18698678   Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

  18715515   Lack of evidence linking primary sclerosing cholangitis and primary biliary cirrhosis with Crohn's disease risk alleles in Polish patients.

  18756601   OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.

  19141711   Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

  19742321   Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation.

  19940846   The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

  20444268   Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets

  21333900   The role of genetics in IBS

  21674708   Two independent genetic factors are responsible for the association of the IBD5 locus with Crohn's disease in the Czech population.

  23127916   Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy.

  23300620   Genotype/phenotype analysis of 53 genetic polymorphisms associated with Crohn's disease.

  23300802   Polymorphisms modulating PTGER4 expression in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites.

  26370461   Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility.

  32964310   Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men.

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The activated ligand-regulated transcription factors collectively known as nuclear receptors...

21 hydroxylase

The CYP21A2 gene encodes the human protein, Steroid 21-hydroxylase. This enzyme hydroxylates...

Serotonin transporter sert

In humans, the SLC6A4 gene encodes a protein referred to as both the sodium-dependent serotonin...

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