Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs12654778

Hard Link
rs12654778 is a snp on gene ADRB2 (adrenergic, beta-2-, receptor, surface)

GeneADRB2 Chromosome number 5 Chromosome position 148826178
Alleles A/G Minor Allele A Minor Allele Frequency 0.3343
Notation G-654A Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
The rs12654778 is located in the promoter region ~654 bp upstream of ADRB2, which is with the histone modification H3K27Ac, H3K4me1 and H3K4me3 ... the luciferase assay indicated that rs12654778-A allele reduced the relative promoter activity by ~26% compared with rs12654778-G allele (p=0.0034)... rs12654778-A allele showed a ~21.8% reduction in promoter activity compared to the rs12654778-G allele (p=0.0034) ... Located within a conserved CCAAT box-like motif, which may function as a canonical binding site for NF1. [PMID:29588580]
Gene Function
This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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