Genetics Genetics Research
CHROMOSOME 16 GRIN2A 16p13.2 GENE VIEW GRIN2A · 16p13.2 16p14 16p12 rs8058295 — ~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 rs8058295 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

rs8058295

Gene: GRIN2A — Glutamate Ionotropic Receptor NMDA Type Subunit 2A Chr 16:9817529 16p13.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.709659A 0.290341CC 0.509711CA/AC 0.399897AA 0.090392pop=362,798 ↬
African C 0.52693A 0.47307CC 0.277744CA/AC 0.498362AA 0.223894pop=46,388
African American C 0.52911A 0.47089CC 0.279723CA/AC 0.49877AA 0.221507pop=44,730
African Others C 0.468A 0.532CC 0.224367CA/AC 0.487334AA 0.288299pop=1,658
Asian C 0.931A 0.069CC 0.867826CA/AC 0.126304AA 0.00587pop=9,200
East Asian C 0.9373A 0.0627CC 0.878927CA/AC 0.116739AA 0.004334pop=7,384
European C 0.728863A 0.271137CC 0.531014CA/AC 0.395697AA 0.073289pop=281,680
Latin American 1 C 0.678A 0.322CC 0.454307CA/AC 0.447479AA 0.098214pop=3,808
Latin American 2 C 0.7709A 0.2291CC 0.594993CA/AC 0.351743AA 0.053265pop=8,148
Other C 0.7268A 0.2732CC 0.536267CA/AC 0.381067AA 0.082667pop=7,500
Other Asian C 0.9053A 0.0947CC 0.822687CA/AC 0.165198AA 0.012115pop=1,816
South Asian C 0.796A 0.204CC 0.638459CA/AC 0.315114AA 0.046427pop=6,074

Studies3

Unread Studies3 ▼
1

Pharmacogenetic, pharmacokinetic and epigenetic profiles in children who experience vomiting or recovery agitation during sedation with ketamine

Study ↗ PDF ↗
Ketamine is one of the sedatives most used in North America for procedural sedation outside the operating room in children. Vomiting and recovery agitation are the …

2022 · G Cozzi

2

Integrative functional genomic analysis in multiplex autism families from Kazakhstan

Study ↗ PDF ↗
The study of extended pedigrees containing autism spectrum disorder‐ (ASD‐) related broader autism phenotypes (BAP) offers a promising approach to the search for ASD candidate …

2022 · A Perfilyeva, K Bespalova, Y Perfilyeva…

3

Computational Investigation of DNA Methylation and C2H2 Zinc Finger Transcription Factor Binding

Study ↗ PDF ↗
DNA binding regulatory proteins known as transcription factors (TFs) and biochemical modifications to DNA such as DNA methylation play a key role in regulating gene activity. In my …

2017 · IM Kaplow

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.