ENSG00000163558

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf Ensembl gene ID
gptkbp:associatedWith Epilepsy
Childhood absence epilepsy
Juvenile myoclonic epilepsy
gptkbp:encodes GABRA1
gptkbp:Entrez_Gene_ID 2554
ENSP00000221311
gptkbp:gene GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
gptkbp:geneType protein-coding
gptkbp:hasRefSeqID NM_000806
gptkbp:hasTranscript ENST00000221311
gptkbp:HGNC_ID HGNC:4059
https://www.w3.org/2000/01/rdf-schema#label ENSG00000163558
gptkbp:locatedOnChromosome gptkb:chromosome_5
gptkbp:OMIM 137160
gptkbp:organism gptkb:Homo_sapiens
gptkbp:startPoint 161318352
161372220
gptkbp:strand plus
gptkbp:UniProtID P14867
gptkbp:bfsParent gptkb:PRKCI
gptkb:LAMA5
gptkbp:bfsLayer 7