rs4816
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs4816(A;A) |
Make rs4816(A;G) |
Make rs4816(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 149793609 |
Gene | PCMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs4816 |
dbSNP (classic) | rs4816 |
ClinGen | rs4816 |
ebi | rs4816 |
HLI | rs4816 |
Exac | rs4816 |
Gnomad | rs4816 |
Varsome | rs4816 |
LitVar | rs4816 |
Map | rs4816 |
PheGenI | rs4816 |
Biobank | rs4816 |
1000 genomes | rs4816 |
hgdp | rs4816 |
ensembl | rs4816 |
geneview | rs4816 |
scholar | rs4816 |
rs4816 | |
pharmgkb | rs4816 |
gwascentral | rs4816 |
openSNP | rs4816 |
23andMe | rs4816 |
SNPshot | rs4816 |
SNPdbe | rs4816 |
MSV3d | rs4816 |
GWAS Ctlg | rs4816 |
GMAF | 0.3627 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 22647835] Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area
[PMID 19290383] Posttranslational Protein Modifications in Type 1 Diabetes - Genetic Studies with PCMT1, the Repair Enzyme Protein Isoaspartate Methyltransferase (PIMT) Encoding Gene.
[PMID 10496068] Polymorphic forms of the protein L-isoaspartate (D-aspartate) O-methyltransferase involved in the repair of age-damaged proteins.