Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
N-methyl-D-aspartate receptor
neurodevelopmental disorder with or without hyperkinetic movements and seizures |
gptkbp:encodes |
Glutamate receptor ionotropic, NMDA 1
|
gptkbp:Entrez_Gene_ID |
2902
|
gptkbp:expressedIn |
brain
|
gptkbp:hasTranscriptVariant |
multiple
|
https://www.w3.org/2000/01/rdf-schema#label |
GRIN1
|
gptkbp:involvedIn |
memory
learning synaptic transmission |
gptkbp:locatedOnChromosome |
9q34.3
|
gptkbp:mutationAssociatedWith |
epilepsy
intellectual disability |
gptkbp:OMIM |
138249
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Grin1
|
gptkbp:product |
NMDA receptor subunit NR1
|
gptkbp:UniProtID |
Q05586
|
gptkbp:bfsParent |
gptkb:NMDA_receptor
gptkb:NMDA_receptors |
gptkbp:bfsLayer |
7
|