Hs02185327_cn

• Gene Symbol: DEF6
• Assay Reference Genome Location: Chr.6:35319647 on build GRCh38
• Cytoband: 6p21.31

Target Gene Details

• Entrez Gene ID: 50619
• Gene Name: DEF6, guanine nucleotide exchange factor
• Gene Aliases: IBP, SLAT, SWAP70L
• Location: Chr.6:35297818-35321771 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEF6	NM_022047.3	8	1378	NP_071330.3
	AJ276095.1	8	1339	CAC08450.1
	AK093613.1	7	1090
	AK314756.1	8	1353
	AY241694.1	8	1378	AAO91767.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759419	Chr.6:35200339 - 35323225 on Build GRCh38	Loss	ZNF76 DEF6 SCUBE3
nsv830641	Chr.6:35314757 - 35472826 on Build GRCh38	Loss	MIR7111 PPARD RPL10A FANCE DEF6
nsv602907	Chr.6:35317943 - 35344490 on Build GRCh38	Loss	PPARD DEF6

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s)

protein binding