Genetics Genetics Research
CHROMOSOME 12 GRIN2B 12p13.1 GENE VIEW GRIN2B · 12p13.1 12p14 12p12 rs797044930 — ~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 rs797044930 Alanine 639 → Valine G / A · GRIN2B · 12p13.1 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

rs797044930

Alanine 639 → Valine Gene: GRIN2B — Glutamate Ionotropic Receptor NMDA Type Subunit 2B Chr 12:13608697 12p13.1 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

Sort by
Total G 0.999995A 0.000005GG 0.999989GA/AG 0.000011AA 0pop=187,148 ↬
European G 0.999994A 0.000006GG 0.999987GA/AG 0.000013AA 0pop=158,812

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.