Lurp

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


rs2571598

Hard Link
rs2571598 is a snp on gene ACHE (acetylcholinesterase)

GeneACHE Chromosome number 7 Chromosome position 100892018
Alleles C/G/T Minor Allele T Minor Allele Frequency 0.3456
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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

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