rs8077346

This is a regulatory region variant variant in the RPA1 gene.

Research that mentions this SNP (1)

Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA
AssociationN=1,637Meredith A. Bostrom et al.(2010)· Human Genetics

Genome-wide association study (GWAS) using pooled DNA in 500 African American non-diabetic ESRD cases and 500 controls, with replication in 336 cases and 363 controls. Strong association with MYH9 gene (12 SNPs, p-values 1.78E-19 to 2.26E-08) and identification of candidate loci including rs4821469 (p<1.0E-6), rs4462445 (p<1.0E-6), rs8077346 (p<1.0E-6), and additional genes (KIF26B, CTXN3, TMEM132D) warranting follow-up studies.

Traits studied:Chronic glomerulonephritis-associated ESRDHypertensive ESRDNon-diabetic end-stage renal disease (ESRD)

About RPA1

This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]

View all RPA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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