Have questions? Visit https://www.reddit.com/r/SNPedia

rs28936679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 in Japanese, possible delayed sleep phase condition
(G;G) 0 common in complete genomics


Make rs28936679(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position76469731
GeneAANAT
is asnp
is mentioned by
dbSNPrs28936679
ebirs28936679
HLIrs28936679
Exacrs28936679
Varsomers28936679
Maprs28936679
PheGenIrs28936679
hapmaprs28936679
1000 genomesrs28936679
hgdprs28936679
ensemblrs28936679
gopubmedrs28936679
geneviewrs28936679
scholarrs28936679
googlers28936679
pharmgkbrs28936679
gwascentralrs28936679
openSNPrs28936679
23andMers28936679
23andMe allrs28936679
SNP Nexus

SNPshotrs28936679
SNPdbers28936679
MSV3drs28936679
GWAS Ctlgrs28936679
GMAF0.007805
Max Magnitude2
rs28936679, also known as Ala129Thr or A129T (and also G619A), is a SNP in the aralkylamine N-acetyltransferase AANAT gene. The AANAT protein plays a unique role in vertebrate biology by controlling rhythmic production of melatonin in the pineal gland. Its activity increases 10- to 100-fold at night, leading to increased production and release of melatonin.

In a 2003 report about Japanese patients with a sleep disorder known as susceptibility to delayed sleep phase syndrome, patient genotypes had a higher frequency of the rs28936679(A) allele.[PMID 12736803]

A later report based on Brazilian (primarily Caucasian) patients including those with delayed sleep phase syndrome found no variation at this SNP.[PMID 17503170]

OMIM600950
DescDELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO
Variant0001
Relatedalso


ClinVar
Risk rs28936679(A;A)
Alt rs28936679(A;A)
Reference rs28936679(G;G)
Significance Other
Disease Sleep-wake schedule disorder
Variation info
Gene AANAT
CLNDBN Sleep-wake schedule disorder, delayed phase type
Reversed 0
HGVS NC_000017.10:g.74465813G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009162.3,