Hs00979342_cn

• Gene Symbol: CTNNA2
• Assay Reference Genome Location: Chr.2:80302996 on build GRCh38
• Cytoband: 2p12

Target Gene Details

• Entrez Gene ID: 1496
• Gene Name: catenin alpha 2
• Gene Aliases: CAP-R, CAPR, CT114, CTNR
• Location: Chr.2:79512934-80648868 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTNNA2	NM_001164883.1			NP_001158355.1
	NM_001282597.2			NP_001269526.1
	NM_001282598.1			NP_001269527.1
	NM_004389.3			NP_004380.2
	XM_011532555.2			XP_011530857.1
	XM_011532556.2			XP_011530858.1
	XM_017003403.1			XP_016858892.1
	XM_017003404.1			XP_016858893.1
	XM_017003405.1			XP_016858894.1
	AK127226.1
	AK295181.1
	AK303035.1
	BC040458.1			AAH40458.1
	BC052996.1			AAH52996.1
	M94151.2			AAA58407.2

Target Gene Details

• Entrez Gene ID: 347730
• Gene Name: leucine rich repeat transmembrane neuronal 1
• Gene Aliases: -
• Location: Chr.2:80301878-80304738 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRRTM1	NM_178839.4	2	1094	NP_849161.2
	XM_017003986.1	2	1626	XP_016859475.1
	XM_017003987.1	2	1474	XP_016859476.1
	AK056644.1	2	1125	BAB71240.1
	AK225779.1	2	1481
	AK290512.1	2	1344
	AY182024.1	1	824	AAO67545.1
	AY358310.1	2	1543	AAQ88677.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759069	Chr.2:80174192 - 80615336 on Build GRCh38	Loss	LRRTM1 CTNNA2

More Information

Additional Information:

For this assay, SNP(s) [rs76300062] 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, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-motor actin binding protein, transmembrane signal receptor

Gene Ontology Categories:

Process(es)

cytoskeleton organization
axonogenesis
single organismal cell-cell adhesion
radial glia guided migration of Purkinje cell
dendrite morphogenesis
brain morphogenesis
positive regulation of muscle cell differentiation
regulation of synapse structural plasticity
prepulse inhibition
negative regulation of receptor internalization
negative regulation of protein kinase activity
locomotory behavior
biological_process
cytokine-mediated signaling pathway
protein localization to synapse
exploration behavior
negative regulation of JAK-STAT cascade
synapse organization
positive regulation of synapse assembly
long-term synaptic potentiation

Function(s)

structural constituent of cytoskeleton
protein binding
actin filament binding
cadherin binding involved in cell-cell adhesion
molecular_function
protein kinase inhibitor activity