rs1802059
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1802059(A;A) |
Make rs1802059(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 7897206 |
Gene | MTRR |
is a | snp |
is | mentioned by |
dbSNP | rs1802059 |
dbSNP (classic) | rs1802059 |
ClinGen | rs1802059 |
ebi | rs1802059 |
HLI | rs1802059 |
Exac | rs1802059 |
Gnomad | rs1802059 |
Varsome | rs1802059 |
LitVar | rs1802059 |
Map | rs1802059 |
PheGenI | rs1802059 |
Biobank | rs1802059 |
1000 genomes | rs1802059 |
hgdp | rs1802059 |
ensembl | rs1802059 |
geneview | rs1802059 |
scholar | rs1802059 |
rs1802059 | |
pharmgkb | rs1802059 |
gwascentral | rs1802059 |
openSNP | rs1802059 |
23andMe | rs1802059 |
SNPshot | rs1802059 |
SNPdbe | rs1802059 |
MSV3d | rs1802059 |
GWAS Ctlg | rs1802059 |
GMAF | 0.2489 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
Yasko Methylation Methionine synthase, coded by the MTR gene, has a B12 attached to it. The Methionine synthase takes a methyl group from methyl folate and attaches it to its B12, then it attaches it to a molecule of homocysteine, turning it into methionine, which in turn becomes SAMe. After 1000-2000 times doing this, the B12 gets turned into a useless form, and MTRR turns the B12 back into the useful form so that the molecule of MTR can keep working. The MTRR mutations make this enzyme less active, suggesting a need for more B12.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 20445798] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
ClinVar | |
---|---|
Risk | rs1802059(A;A) |
Alt | rs1802059(A;A) |
Reference | Rs1802059(G;G) |
Significance | Non-pathogenic |
Disease | not specified Disorders of Intracellular Cobalamin Metabolism |
Variation | info |
Gene | MTRR |
CLNDBN | not specified Disorders of Intracellular Cobalamin Metabolism |
Reversed | 0 |
HGVS | NC_000005.9:g.7897319G>A |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000126882.3, RCV000390684.1, |