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, |
