rs4140804

This is a intron variant variant in the RPA3 gene.

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Research that mentions this SNP (1)

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Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
AssociationN=137Sandra Martins et al.(2014)· Human Genetics

This association study of 137 Machado-Joseph disease (MJD/SCA3) parent-child transmissions identified genetic modifiers of CAG repeat instability in DNA repair genes. The variant rs2228528 (p.Gly399Asp) in ERCC6 was associated with expansion bias (p<0.0005), and a gene-gene interaction between RPA3 (rs4140804) and CDK7 (rs2972388) showed direction-dependent effects on repeat instability (p=9.4×10-6). These findings implicate transcription-coupled repair pathway genes in CAG repeat dynamics in humans.

Traits studied:CAG repeat instabilityMachado-Joseph diseaseSpinocerebellar ataxia type 3
PubMedDOIMetascience Observatory

About RPA3

Enables damaged DNA binding activity and single-stranded DNA binding activity. Involved in DNA metabolic process. Part of DNA replication factor A complex. [provided by Alliance of Genome Resources, Jul 2025]

View all RPA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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