CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs3740066 — ~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 rs3740066 Isoleucine 1324 → Methionine C / G · ABCC2 · 10q24.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs3740066

Isoleucine 1324 → Methionine Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99844450 10q24.2 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.667555G 0.000007CC 0.451618CG/GC 0.43188GG 0.116503pop=153,818
African C 0.75326T 0.24674CC 0.57367CT/TC 0.359183TT 0.067147pop=21,922
African American C 0.75211T 0.24789CC 0.572153CT/TC 0.359921TT 0.067926pop=21,288
African Others C 0.792T 0.208CC 0.624606CT/TC 0.334385TT 0.041009pop=634
Asian C 0.7958T 0.2042CC 0.636646CT/TC 0.318323TT 0.045031pop=1,288
East Asian C 0.8031T 0.1969CC 0.646718CT/TC 0.312741TT 0.040541pop=1,036
European C 0.648611G 0.000009CC 0.424449CG/GC 0.44833GG 0.127221pop=114,904
Latin American 1 C 0.6848T 0.3152CC 0.481898CT/TC 0.405743TT 0.11236pop=1,602
Latin American 2 C 0.6943T 0.3057CC 0.485057CT/TC 0.418391TT 0.096552pop=3,480
Other C 0.66727T 0.33273CC 0.453658CT/TC 0.427231TT 0.119111pop=10,444
Other Asian C 0.766T 0.234CC 0.595238CT/TC 0.34127TT 0.063492pop=252
South Asian C 0.753T 0.247CC 0.573034CT/TC 0.359551TT 0.067416pop=178

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