Genetics Genetics Research
CHROMOSOME 17 SLC46A1 17q11.2 GENE VIEW SLC46A1 · 17q11.2 17q10 17q12 rs397515391 — ~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 rs397515391 SLC46A1 · 17q11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ ? HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ ? 5′ 3′ ? G Guanine — reference allele ? ? — variant allele genetics.jdge.cc

rs397515391

Gene: SLC46A1 — Solute Carrier Family 46 Member 1 Chr 17:28405910 17q11.2
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Global GG 0.999994delGG 0.000006pop=1,391,340 ↬
European GG 0.999993delGG 0.000007pop=1,159,828

Studies0

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