Hs07178493_cn

• Gene Symbol: GNAS
• Assay Reference Genome Location: Chr.20:58851513 on build GRCh38
• Cytoband: 20q13.32

Target Gene Details

• Entrez Gene ID: 2778
• Gene Name: GNAS complex locus
• Gene Aliases: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, POH, SCG6, SgVI
• Location: Chr.20:58839681-58911196 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNAS	NM_001309861.1			NP_001296790.1
	NM_016592.3			NP_057676.1
	XM_017027815.1			XP_016883304.1
	XM_017027821.1			XP_016883310.1
	XM_017027822.1			XP_016883311.1
	AF105253.1			AAF63226.1
	AK122771.1
	AK315874.1
	CN273438.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv459031	Chr.20:58846572 - 58904078 on Build GRCh38	Loss	GNAS LOC101927932 GNAS-AS1
nsv828763	Chr.20:58839788 - 58908828 on Build GRCh38	Loss	GNAS LOC101927932 GNAS-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs79020647] 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)

tissue homeostasis
endochondral ossification
energy reserve metabolic process
DNA methylation
adenylate cyclase-activating G-protein coupled receptor signaling pathway
adenylate cyclase-activating dopamine receptor signaling pathway
sensory perception of chemical stimulus
embryonic hindlimb morphogenesis
multicellular organism growth
post-embryonic body morphogenesis
response to drug
positive regulation of osteoblast differentiation
positive regulation of osteoclast differentiation
developmental growth
embryonic cranial skeleton morphogenesis
cognition
cartilage development
bone development
hair follicle placode formation
platelet aggregation
genetic imprinting
regulation of parathyroid hormone secretion

Function(s)

GTPase activity
signal transducer activity
insulin-like growth factor receptor binding
protein binding
GTP binding
G-protein beta/gamma-subunit complex binding
beta-2 adrenergic receptor binding
D1 dopamine receptor binding
mu-type opioid receptor binding
ionotropic glutamate receptor binding
metal ion binding
corticotropin-releasing hormone receptor 1 binding