Hs01704408_cn

• Gene Symbol: SEZ6
• Assay Reference Genome Location: Chr.17:28955997 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 124925
• Gene Name: seizure related 6 homolog
• Gene Aliases: BSRPC
• Location: Chr.17:28954905-29006440 on Build GRCh38
• Assay Gene Location: Overlaps Intron 17 - Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEZ6	NM_001098635.1			NP_001092105.1
	NM_001290202.1			NP_001277131.1
	NM_178860.4			NP_849191.3
	XM_011524315.1			XP_011522617.1
	XM_011524317.2			XP_011522619.1
	AF502129.1			AAM22213.1
	AF502130.1			AAM22214.1
	AK054913.1			BAB70826.1
	AK055383.1			BAB70912.1
	AK091522.1			BAC03684.1
	AK096473.1
	AK125377.1
	AK223620.1			BAD97340.1
	AL834405.1			CAD39067.1
	AY038048.1			AAK71497.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574662	Chr.17:28867616 - 29014758 on Build GRCh38	Loss	LOC101927018 DHRS13 FLOT2 PHF12 SEZ6
nsv833408	Chr.17:28913470 - 29105450 on Build GRCh38	Loss	LOC101927018 PIPOX TIAF1 PHF12 SEZ6 MYO18A

More Information

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

Gene Ontology Categories:

Process(es)

adult locomotory behavior
cerebellar Purkinje cell layer development
synapse maturation
excitatory postsynaptic potential
regulation of protein kinase C signaling
positive regulation of dendrite development
negative regulation of dendrite development