Genetics Genetics Research
CHROMOSOME 5 MTRR 5p15.31 GENE VIEW MTRR · 5p15.31 5p16 5p14 rs162036 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs162036 Lysine 350 → Arginine A / G · MTRR · 5p15.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs162036

Lysine 350 → Arginine Gene: MTRR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Chr 5:7885846 5p15.31 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.848897G 0.151103AA 0.728282AG/GA 0.241229GG 0.030489pop=712,858 ↬
African A 0.62309G 0.37691AA 0.388746AG/GA 0.46869GG 0.142565pop=67,422
African American A 0.62538G 0.37462AA 0.391702AG/GA 0.467366GG 0.140933pop=65,024
African Others A 0.5609G 0.4391AA 0.30859AG/GA 0.504587GG 0.186822pop=2,398
Asian A 0.82419G 0.17581AA 0.679518AG/GA 0.289346GG 0.031136pop=16,444
East Asian A 0.82407G 0.17593AA 0.678548AG/GA 0.29104GG 0.030412pop=12,232
European A 0.884102G 0.115898AA 0.782169AG/GA 0.203864GG 0.013966pop=563,080
Latin American 1 A 0.7586G 0.2414AA 0.578972AG/GA 0.359305GG 0.061723pop=8,522
Latin American 2 A 0.67624G 0.32376AA 0.46348AG/GA 0.425512GG 0.111008pop=17,278
Other A 0.83152G 0.16848AA 0.698676AG/GA 0.265687GG 0.035637pop=31,428
Other Asian A 0.8245G 0.1755AA 0.682336AG/GA 0.284425GG 0.033238pop=4,212
South Asian A 0.8611G 0.1389AA 0.743206AG/GA 0.235836GG 0.020958pop=8,684

Studies0

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