Genetics Genetics Research
CHROMOSOME 10 PCBD1 10q22.1 GENE VIEW PCBD1 · 10q22.1 10q21 10q23 rs727505360 — ~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 rs727505360 Glutamic Acid 27 → Stop C / A · PCBD1 · 10q22.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs727505360

Glutamic Acid 27 → Stop Gene: PCBD1 — Pterin-4 Alpha-Carbinolamine Dehydratase 1 Chr 10:70885854 10q22.1 Stop Gained
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

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