Genetics Genetics Research
CHROMOSOME 17 SLC46A1 17q11.2 GENE VIEW SLC46A1 · 17q11.2 17q10 17q12 rs281875208 — ~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 rs281875208 Alanine 335 → Valine G / A · SLC46A1 · 17q11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs281875208

Alanine 335 → Valine Gene: SLC46A1 — Solute Carrier Family 46 Member 1 Chr 17:28404693 17q11.2 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total G 0.99991T 0.00009GG 0.999828GT/TG 0.000172TT 0pop=58,212 ↬
European G 0.99988T 0.00012GG 0.999763GT/TG 0.000237TT 0pop=42,274

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