Genetics Genetics Research
CHROMOSOME 20 SNAP25 20p12.2 GENE VIEW SNAP25 · 20p12.2 20p13 20p11 rs797044873 — ~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 rs797044873 Valine 48 → Phenylalanine G / T · SNAP25 · 20p12.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T G Guanine — reference allele T Thymine — variant allele genetics.jdge.cc

rs797044873

Valine 48 → Phenylalanine Gene: SNAP25 — Synaptosome Associated Protein 25 Chr 20:10284751 20p12.2 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

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