rs3130

This is a 3 prime utr variant variant in the PROM1 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Cone-rod dystrophy 12 (CORD12); Retinal macular dystrophy type 2 (MCDR2); Retinitis pigmentosa (RP); Stargardt disease 4 (STGD4)

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Research that mentions this SNP (2)

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Polymorphisms of the Stem Cell Marker Gene CD133 and the Risk of Lung Cancer in Chinese Population
AssociationN=2,052Qing-Feng Liu et al.(2016)· Lung

Hospital-based case-control study of 1017 lung cancer patients and 1035 controls in Chinese population investigating associations between four functional CD133 SNPs and lung cancer risk. The rs2240688 A>C variant (AC/CC genotypes) was significantly associated with increased lung cancer risk under a recessive model (adjusted OR 1.19; 95% CI 1.01-1.42). The association remained significant in patients <65 years and with other histology types, but not with adenocarcinoma and squamous cell cancers. Other three SNPs (rs10022537, rs7686732, rs3130) showed no significant associations.

Traits studied:Lung cancerLung cancer - adenocarcinomaLung cancer - other histology typesLung cancer - squamous cell cancer
PubMedDOIMetascience Observatory
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Polymorphisms at the microRNA binding-site of the stem cell marker geneCD133modify susceptibility to and survival of gastric cancer
AssociationN=684Qiming Wang et al.(2015)· Molecular Carcinogenesis

This case-control study investigated associations between CD133 gene polymorphisms in microRNA binding sites and gastric cancer (GC) susceptibility and survival. Among 684 participants (371 cases, 313 controls), rs2240688 C allele was associated with increased GC risk (adjusted OR = 1.52, 95% CI = 1.09-2.13, P = 0.013), while rs3130 T allele was protective (adjusted OR = 0.68 per TT genotype, P = 0.033). The rs3130 TT genotype was also associated with improved overall survival (adjusted HR = 0.77, 95% CI = 0.63-0.93, P = 0.007), with median survival time of 43 months versus 26 months for CT/CC carriers.

Traits studied:Gastric cancer clinicopathological featuresGastric cancer overall survivalGastric cancer susceptibility
PubMedDOIMetascience Observatory

About PROM1

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

View all PROM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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