Genetics Genetics Research
CHROMOSOME 2 ATIC 2q35 GENE VIEW ATIC · 2q35 2q34 2q36 rs2372536 — ~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 rs2372536 Threonine 116 → Serine C / G · ATIC · 2q35 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

rs2372536

Threonine 116 → Serine Gene: ATIC — 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase Chr 2:215325297 2q35 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.69616G 0.30384CC 0.489647CG/GC 0.413034GG 0.097319pop=56,988 ↬
African C 0.8949G 0.1051CC 0.803834CG/GC 0.182109GG 0.014058pop=6,260
African American C 0.8935G 0.1065CC 0.801325CG/GC 0.184437GG 0.014238pop=6,040
African Others C 0.932G 0.068CC 0.872727CG/GC 0.118182GG 0.009091pop=220
Asian C 0.658G 0.342CC 0.402174CG/GC 0.51087GG 0.086957pop=184
East Asian C 0.683G 0.317CC 0.416667CG/GC 0.533333GG 0.05pop=120
European C 0.67066G 0.32934CC 0.448903CG/GC 0.443514GG 0.107583pop=41,568
Latin American 1 C 0.758G 0.242CC 0.569966CG/GC 0.375427GG 0.054608pop=586
Latin American 2 C 0.679G 0.321CC 0.464037CG/GC 0.429234GG 0.106729pop=862
Other C 0.6717G 0.3283CC 0.45408CG/GC 0.435228GG 0.110692pop=7,426
Other Asian C 0.61G 0.39CC 0.375CG/GC 0.46875GG 0.15625pop=64
South Asian C 0.539G 0.461CC 0.313725CG/GC 0.45098GG 0.235294pop=102

Studies0

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