Hs06448559_cn

• Gene Symbol: GNAL
• Assay Reference Genome Location: Chr.18:11727120 on build GRCh38
• Cytoband: 18p11.21

Target Gene Details

• Entrez Gene ID: 2774
• Gene Name: G protein subunit alpha L
• Gene Aliases: DYT25
• Location: Chr.18:11688956-11885685 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNAL	NM_182978.3			NP_892023.1
	XM_006722324.2			XP_006722387.1
	AK090868.1			BAC03535.1
	AK295088.1
	AK307260.1
	BC050021.1			AAH50021.1
	BP230966.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1065382	Chr.18:11723231 - 11769733 on Build GRCh38	Gain	GNAL
nsv1057995	Chr.18:10626172 - 11923368 on Build GRCh38	Gain	CHMP1B LOC101927410 MIR6788 MPPE1 SLC35G4 GNAL MIR7153 PIEZO2 LINC01255

More Information

Additional Information:

For this assay, SNP(s) [rs75279306] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

heterotrimeric G-protein

Gene Ontology Categories:

Process(es)

signal transduction
adenylate cyclase-activating G-protein coupled receptor signaling pathway
activation of adenylate cyclase activity
adenylate cyclase-activating dopamine receptor signaling pathway
adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
sensory perception of smell

Function(s)

GTPase activity
signal transducer activity
GTP binding
G-protein beta/gamma-subunit complex binding
metal ion binding