rs28936679
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | in Japanese, possible delayed sleep phase condition |
| (G;G) | 0 | common in complete genomics |
| Make rs28936679(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 76469731 |
| Gene | AANAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936679 |
| dbSNP (classic) | rs28936679 |
| ClinGen | rs28936679 |
| ebi | rs28936679 |
| HLI | rs28936679 |
| Exac | rs28936679 |
| Gnomad | rs28936679 |
| Varsome | rs28936679 |
| LitVar | rs28936679 |
| Map | rs28936679 |
| PheGenI | rs28936679 |
| Biobank | rs28936679 |
| 1000 genomes | rs28936679 |
| hgdp | rs28936679 |
| ensembl | rs28936679 |
| geneview | rs28936679 |
| scholar | rs28936679 |
| rs28936679 | |
| pharmgkb | rs28936679 |
| gwascentral | rs28936679 |
| openSNP | rs28936679 |
| 23andMe | rs28936679 |
| SNPshot | rs28936679 |
| SNPdbe | rs28936679 |
| MSV3d | rs28936679 |
| GWAS Ctlg | rs28936679 |
| GMAF | 0.007805 |
| Max Magnitude | 2 |
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]
| 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, |
