Hs06538119_cn

• Gene Symbol: SZT2
• Assay Reference Genome Location: Chr.1:43418521 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 23334
• Gene Name: seizure threshold 2 homolog (mouse)
• Gene Aliases: C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B
• Location: Chr.1:43389884-43454247 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SZT2	NM_015284.3			NP_056099.3
	XM_005270686.3			XP_005270743.1
	XM_006710501.3			XP_006710564.1
	XM_011541106.2			XP_011539408.1
	XM_011541107.2			XP_011539409.1
	XM_017000819.1			XP_016856308.1
	XM_017000820.1			XP_016856309.1
	XM_017000821.1			XP_016856310.1
	BF926328.1
	BF927604.1
	BU101724.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv546128	Chr.1:43301467 - 43451738 on Build GRCh38	Loss	SZT2 MPL CDC20 MIR6734 MIR6735 ELOVL1 MED8 TIE1 HYI
nsv950701	Chr.1:43418430 - 43453929 on Build GRCh38	Deletion	SZT2 MIR6735 HYI

More Information

Additional Information:

For this assay, SNP(s) [rs117068776] 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)

central nervous system development
post-embryonic development
corpus callosum morphogenesis
pigmentation
regulation of superoxide dismutase activity

Function(s)

molecular_function