Genetics Genetics Research
CHROMOSOME 21 FTCD 21q22.3 GENE VIEW FTCD · 21q22.3 21q21 21q23 rs119469015 — ~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 rs119469015 Arginine 299 → Proline C / G · FTCD · 21q22.3 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

rs119469015

Arginine 299 → Proline Gene: FTCD — Formimidoyltransferase Cyclodeaminase Chr 21:46150129 21q22.3 2KB Upstream Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total C 0.99996T 0.00004CC 0.999926CT/TC 0.000074TT 0pop=54,400 ↬
Other C 0.9997T 0.0003CC 0.999353CT/TC 0.000647TT 0pop=6,186

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