rs2287780

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs2287780(C;T)

Make rs2287780(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

7889191

Gene

MTRR

is a	snp
is	mentioned by
dbSNP	rs2287780
dbSNP (classic)	rs2287780
ClinGen	rs2287780
ebi	rs2287780
HLI	rs2287780
Exac	rs2287780
Gnomad	rs2287780
Varsome	rs2287780
LitVar	rs2287780
Map	rs2287780
PheGenI	rs2287780
Biobank	rs2287780
1000 genomes	rs2287780
hgdp	rs2287780
ensembl	rs2287780
geneview	rs2287780
scholar	rs2287780
google	rs2287780
pharmgkb	rs2287780
gwascentral	rs2287780
openSNP	rs2287780
23andMe	rs2287780
SNPshot	rs2287780
SNPdbe	rs2287780
MSV3d	rs2287780
GWAS Ctlg	rs2287780

GMAF

0.07622

Max Magnitude

0

?

(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 20445798 ] 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	Probable-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.7889304C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000126872.2, RCV000295321.1,