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C217375Level 6

GRIN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GRIN1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 30 kb in length. This allele, which encodes glutamate receptor ionotropic, NMDA 1 protein, plays a role in amino acid-type neurotransmitter binding and ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 101 and both autosomal dominant and autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures.

**Synonyms:** - DEE101 - GluN1 - Glutamate Ionotropic Receptor NMDA Type Subunit 1 wt Allele - Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 Gene - Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate, Subunit 1 Gene - MRD8 - N-Methyl-D-Aspartate Receptor Channel, Subunit Zeta-1 Gene - NDHMSD - NDHMSR - NMD-R1 - NMDA1 - NMDAR1 - NR1 - hNR1

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