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rs2287780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2287780(C;T)
Make rs2287780(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position7889191
GeneMTRR
is asnp
is mentioned by
dbSNPrs2287780
ClinGenrs2287780
ebirs2287780
HLIrs2287780
Exacrs2287780
Varsomers2287780
Maprs2287780
PheGenIrs2287780
hapmaprs2287780
1000 genomesrs2287780
hgdprs2287780
ensemblrs2287780
gopubmedrs2287780
geneviewrs2287780
scholarrs2287780
googlers2287780
pharmgkbrs2287780
gwascentralrs2287780
openSNPrs2287780
23andMers2287780
23andMe allrs2287780
SNP Nexus

SNPshotrs2287780
SNPdbers2287780
MSV3drs2287780
GWAS Ctlgrs2287780
GMAF0.07622
Max Magnitude0
? (C;C) (C;T) (T;T) 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 20445798OA-icon.png] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.


ClinVar
Risk rs2287780(T;T)
Alt rs2287780(T;T)
Reference Rs2287780(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MTRR
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.7889304C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000126872.2,