Hs02185700_cn

• Gene Symbol: GRIK1
• Assay Reference Genome Location: Chr.21:29537398 on build GRCh38
• Cytoband: 21q21.3

Target Gene Details

• Entrez Gene ID: 2897
• Gene Name: glutamate ionotropic receptor kainate type subunit 1
• Gene Aliases: EAA3, EEA3, GLR5, GLUR5, GluK1, gluR-5
• Location: Chr.21:29536933-29940052 on Build GRCh38
• Assay Gene Location: Overlaps Intron 18 - Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GRIK1	NM_001320616.1			NP_001307545.1
	NM_001320618.1			NP_001307547.1
	NM_001320621.1			NP_001307550.1
	NM_175611.2			NP_783300.1
	XM_005260942.1			XP_005260999.1
	XM_006723991.1			XP_006724054.1
	AJ249208.1			CAC80546.1
	AK294353.1
	AK296404.1
	U16125.1			AAA95961.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834073	Chr.21:29386820 - 29553837 on Build GRCh38	Gain	GRIK1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

transport
glutamate receptor signaling pathway
chemical synaptic transmission
nervous system development
central nervous system development
ion transmembrane transport
ionotropic glutamate receptor signaling pathway
regulation of synaptic transmission, glutamatergic

Function(s)

extracellular-glutamate-gated ion channel activity
ligand-gated ion channel activity
kainate selective glutamate receptor activity