{{Rsnum
|rsid=162036
|Gene=MTRR
|Chromosome=5
|position=7885846
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2309
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTRR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 67.3 | 28.3 | 4.4
| HCB | 65.0 | 32.1 | 2.9
| JPT | 71.7 | 27.4 | 0.9
| YRI | 27.9 | 51.0 | 21.1
| ASW | 43.9 | 47.4 | 8.8
| CHB | 65.0 | 32.1 | 2.9
| CHD | 56.9 | 36.7 | 6.4
| GIH | 72.3 | 24.8 | 3.0
| LWK | 36.4 | 52.7 | 10.9
| MEX | 48.3 | 36.2 | 15.5
| MKK | 57.7 | 36.5 | 5.8
| TSI | 66.7 | 31.4 | 2.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=162036
|allele=G
|frequency=0.233
|uid=1103654018664
|type=heterozygous_SNP
|hugo=MTRR
|ensembl gene=ENSG00000124275
|ensembl transcript=ENST00000264668
|sift=TOLERATED
|disease=Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) (MIM:236270); also known as vitamin B12- responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease.
}}

{{PMID Auto
|PMID=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
|OA=1
}}

{{PMID Auto
|PMID=21211571
|Title=MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
}}

{{PMID|19064578|OA=1
}} No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

{{PMID|19112534|OA=1
}} Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.

{{GET Evidence
|gene=MTRR
|aa_change=Lys377Arg
|aa_change_short=K377R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs162036
|overall_frequency_n=2235
|overall_frequency_d=10758
|overall_frequency=0.207752
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-3
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}