Genetics Genetics Research
CHROMOSOME 12 GRIN2B 12p13.1 GENE VIEW GRIN2B · 12p13.1 12p14 12p12 rs796052570 — ~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 rs796052570 Isoleucine 150 → Valine T / C · GRIN2B · 12p13.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs796052570

Isoleucine 150 → Valine Gene: GRIN2B — Glutamate Ionotropic Receptor NMDA Type Subunit 2B Chr 12:13753879 12p13.1 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies0

No population data has been recorded for this SNP.

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.