Genetics Genetics Research
CHROMOSOME 16 GRIN2A 16p13.2 GENE VIEW GRIN2A · 16p13.2 16p14 16p12 rs796052543 — ~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 rs796052543 Valine 506 → Glycine A / C · GRIN2A · 16p13.2 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

rs796052543

Valine 506 → Glycine Gene: GRIN2A — Glutamate Ionotropic Receptor NMDA Type Subunit 2A Chr 16:9840781 16p13.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total A 0.999995G 0.000005AA 0.99999AG/GA 0.00001GG 0pop=203,798 ↬
Latin American 2 A 0.9998G 0.0002AA 0.999653AG/GA 0.000347GG 0pop=5,766

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