Hs06201168_cn

• Gene Symbol: GEM
• Assay Reference Genome Location: Chr.8:94256581 on build GRCh38
• Cytoband: 8q22.1

Target Gene Details

• Entrez Gene ID: 2669
• Gene Name: GTP binding protein overexpressed in skeletal muscle
• Gene Aliases: KIR
• Location: Chr.8:94249249-94262345 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEM	NM_005261.3			NP_005252.1
	NM_181702.2			NP_859053.1
	XM_017013315.1			XP_016868804.1
	AK314017.1
	BC022010.2			AAH22010.1
	BI759640.1
	U10550.1			AAA64911.1
	U13052.1			AAC50067.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7270n100	Chr.8:94249727 - 94272186 on Build GRCh38	Gain	GEM
nsv831401	Chr.8:94206069 - 94381740 on Build GRCh38	Loss	CDH17 GEM RAD54B

More Information

Additional Information:

For this assay, SNP(s) [rs74753485] 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

Gene Ontology Categories:

Process(es)

immune response
mitotic nuclear division
signal transduction
cell surface receptor signaling pathway
small GTPase mediated signal transduction
chromosome organization
metaphase plate congression

Function(s)

magnesium ion binding
GTPase activity
protein binding
calmodulin binding
GTP binding
GDP binding