Genetics Genetics Research
CHROMOSOME 16 GRIN2A 16p13.2 GENE VIEW GRIN2A · 16p13.2 16p14 16p12 rs796052549 — ~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 rs796052549 Aspartic Acid 731 → Tyrosine C / A · GRIN2A · 16p13.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs796052549

Aspartic Acid 731 → Tyrosine Gene: GRIN2A — Glutamate Ionotropic Receptor NMDA Type Subunit 2A Chr 16:9798442 16p13.2
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies0

No population data has been recorded for this SNP.

Studies1

Unread Studies1 ▼
1

A molecular approach to precision medicine in South African children with Epilepsy: towards a genetics-based diagnostic service for Epilepsy

Study ↗ PDF ↗
Epilepsy is a neurological disorder characterised by unprovoked, recurring seizures. SubSaharan Africa carries the highest burden of epilepsy in the world, owing mainly …

2024 · C McIntosh

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.