Genetics Genetics Research
CHROMOSOME 21 FTCD 21q22.3 GENE VIEW FTCD · 21q22.3 21q21 21q23 rs149266909 — ~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 rs149266909 Leucine 536 → Tryptophan A / C · FTCD · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs149266909

Leucine 536 → Tryptophan Gene: FTCD — Formimidoyltransferase Cyclodeaminase Chr 21:46137006 21q22.3 Stop Gained
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies5

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Total A 0.99976T 0.00024AA 0.999517AT/TA 0.000483TT 0pop=41,372 ↬
African A 0.9989T 0.0011AA 0.997839AT/TA 0.002161TT 0pop=5,552
African American A 0.9989T 0.0011AA 0.997757AT/TA 0.002243TT 0pop=5,350
Latin American 1 A 0.997T 0.003AA 0.993127AT/TA 0.006873TT 0pop=582
Other A 0.9996T 0.0004AA 0.999197AT/TA 0.000803TT 0pop=4,982

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