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rs1802059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1802059(A;A)
Make rs1802059(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position7897206
GeneMTRR
is asnp
is mentioned by
dbSNPrs1802059
ebirs1802059
HLIrs1802059
Exacrs1802059
Varsomers1802059
Maprs1802059
PheGenIrs1802059
hapmaprs1802059
1000 genomesrs1802059
hgdprs1802059
ensemblrs1802059
gopubmedrs1802059
geneviewrs1802059
scholarrs1802059
googlers1802059
pharmgkbrs1802059
gwascentralrs1802059
openSNPrs1802059
23andMers1802059
23andMe allrs1802059
SNP Nexus

SNPshotrs1802059
SNPdbers1802059
MSV3drs1802059
GWAS Ctlgrs1802059
GMAF0.2489
Max Magnitude0
? (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 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.


[PMID 20445798OA-icon.png] 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
Variation info
Gene MTRR
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.7897319G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000126882.3,