rs3495
This is a 3 prime utr variant variant in the BCHE gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Variability of the BCHE gene in Amerindians from Paraná, BrazilAssociationN=240Hugo Silva‐Alves et al.(2011)· American Journal of Human Biology
This study examined BCHE gene variability in two Amerindian populations (Kaingang and Guarani-Mbya from Brazil) by analyzing seven SNPs (two upstream, three within, two downstream of BCHE). Amerindians showed lower BCHE variant frequencies than other populations. Key findings included absence of the 116A variant (rs1126680) in Amerindians, presence of the K allele (539T, rs1803274), and three SNPs (rs3495, rs7624915, rs4387996) showing ancestral allele frequency patterns decreasing from Africa toward the Americas. Despite geographical proximity, Kaingang and Guarani retained >90% ancestral genetic constitution, demonstrating cultural and social isolation maintained genetic identity.
About BCHE
This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
View all BCHE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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