Genetics Genetics Research
CHROMOSOME 16 GRIN2A 16p13.2 GENE VIEW GRIN2A · 16p13.2 16p14 16p12 rs762659685 — ~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 rs762659685 Alanine 716 → Threonine C / T · GRIN2A · 16p13.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs762659685

Alanine 716 → Threonine Gene: GRIN2A — Glutamate Ionotropic Receptor NMDA Type Subunit 2A Chr 16:9822286 16p13.2
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Global C 0.999997T 0.000003pop=595,506 ↬
European C 0.999995T 0.000005pop=403,128

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