Lurp

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


rs2472553

Hard Link
rs2472553 is a snp on gene CHRNA2 (cholinergic receptor, nicotinic, alpha 2 (neuronal))

GeneCHRNA2 Chromosome number 8 Chromosome position 27470994
Alleles T/G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.221
Notation 65C>T, Thr22Ile T22I Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant.
Gene Function
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
Rs1801131 (MTHFR) | i5000294 (GIF) | rs35829419 (NLRP3) | rs2472553 (CHRNA2) | rs3811450 (CHRNB2) | rs1051730 (CHRNA3) | rs2571598 (ACHE) | rs1056836 (CYP1B1) | rs6036025 (CHR20-LOC22059230) | rs2808630 (CRP) | rs1061472 (ATP7B)

MOST FREQUENTLY SEARCHED:
rs1799941 (SHBG) | rs9939609 (FTO) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs6025 (F5) | rs2075252 (LRP2) | rs20541 (IL13) | rs4680 (COMT) | rs2569191 (CD14) | rs2235544 (DIO1) | rs2844682 ()








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