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GRIN1 - glutamate ionotropic receptor NMDA type subunit 1
- Synonym(s) : GluN1
- Previous symbols and names : N-methyl-D-aspartate receptor subunit NR1, NMDAR1, glutamate receptor, ionotropic, N-methyl D-aspartate 1
- Type : gene with protein product
- Chromosomal location : 9q34.3
- OMIM: 138249
- HGNC: 4584
- UniProtKB: Q05586
- Genatlas: GRIN1
- GenCC: GRIN1
- Ensembl: ENSG00000176884
- IUPHAR-DB: 455
- Reactome: Q05586
- LOVD: GRIN1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 - Disease-causing germline mutation(s) in Bilateral generalized polymicrogyria
ORPHA:208447 - Disease-causing germline mutation(s) (loss of function) in Early infantile epileptic encephalopathy
ORPHA:1934

Additional information
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