Hs02122630_cn

• Gene Symbol: SEZ6
• Assay Reference Genome Location: Chr.17:28957497 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: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEZ6	NM_001098635.1	12	2539	NP_001092105.1
	NM_001290202.1	12	2375	NP_001277131.1
	NM_178860.4	12	2539	NP_849191.3
	XM_011524315.1	12	2539	XP_011522617.1
	XM_011524317.2	12	2539	XP_011522619.1
	AF502129.1	12	2627	AAM22213.1
	AF502130.1			AAM22214.1
	AK054913.1	3	400	BAB70826.1
	AK055383.1	6	811	BAB70912.1
	AK091522.1	12	2375	BAC03684.1
	AK096473.1	11	1788
	AK125377.1	12	2501
	AK223620.1	12	2501	BAD97340.1
	AL834405.1	11	2284	CAD39067.1
	AY038048.1	12	2530	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	PHF12 LOC101927018 FLOT2 DHRS13 SEZ6
nsv833408	Chr.17:28913470 - 29105450 on Build GRCh38	Loss	MYO18A PIPOX TIAF1 PHF12 LOC101927018 SEZ6

More Information

• Set Membership: Intragenic, 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