Genetics Genetics Research
CHROMOSOME 5 MTRR 5p15.31 GENE VIEW MTRR · 5p15.31 5p16 5p14 rs1532268 — ~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 rs1532268 Serine 175 → Stop C / A · MTRR · 5p15.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1532268

Serine 175 → Stop Gene: MTRR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Chr 5:7878066 5p15.31 Stop Gained
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.654047T 0.345953CC 0.431078CT/TC 0.445938TT 0.122984pop=697,698 ↬
African C 0.72878T 0.27122CC 0.531847CT/TC 0.39386TT 0.074294pop=65,470
African American C 0.72773T 0.27227CC 0.529991CT/TC 0.395476TT 0.074533pop=63,220
African Others C 0.7582T 0.2418CC 0.584CT/TC 0.348444TT 0.067556pop=2,250
Asian C 0.85578T 0.14422CC 0.73402CT/TC 0.243528TT 0.022451pop=16,302
East Asian C 0.87077T 0.12923CC 0.758875CT/TC 0.223785TT 0.01734pop=12,226
European C 0.632526T 0.367474CC 0.400264CT/TC 0.464526TT 0.135211pop=546,450
Latin American 1 C 0.6885T 0.3115CC 0.4777CT/TC 0.421513TT 0.100787pop=9,148
Latin American 2 C 0.80837T 0.19163CC 0.655953CT/TC 0.304827TT 0.03922pop=17,236
Other C 0.67674T 0.32326CC 0.46547CT/TC 0.422547TT 0.111982pop=34,434
Other Asian C 0.8108T 0.1892CC 0.65947CT/TC 0.302748TT 0.037782pop=4,076
South Asian C 0.6335T 0.3665CC 0.409794CT/TC 0.447447TT 0.142758pop=8,658

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