Genetics Genetics Research
CHROMOSOME 2 ATIC 2q35 GENE VIEW ATIC · 2q35 2q34 2q36 rs121434478 — ~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 rs121434478 Lysine 426 → Arginine A / G · ATIC · 2q35 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

rs121434478

Lysine 426 → Arginine Gene: ATIC — 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase Chr 2:215344828 2q35 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies3

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Total A 0.999984G 0.000016AA 0.999967AG/GA 0.000033GG 0pop=245,564 ↬
European A 0.999985G 0.000015AA 0.999969AG/GA 0.000031GG 0pop=194,068
Other A 0.9999G 0.0001AA 0.999727AG/GA 0.000273GG 0pop=7,332

Studies0

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No unused studies.