Hs01955577_cn

• Gene Symbol: PSD3
• Assay Reference Genome Location: Chr.8:18532319 on build GRCh38
• Cytoband: 8p22

Target Gene Details

• Entrez Gene ID: 23362
• Gene Name: pleckstrin and Sec7 domain containing 3
• Gene Aliases: EFA6D, EFA6R, HCA67
• Location: Chr.8:18527303-19086909 on Build GRCh38
• Assay Gene Location: Within Exon 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSD3	NM_015310.3	16	6671	NP_056125.3
	NM_206909.2	13	5075	NP_996792.1
	XM_017013258.1	16	7980	XP_016868747.1
	XM_017013259.1	16	7958	XP_016868748.1
	XM_017013260.1	16	6731	XP_016868749.1
	XM_017013261.1	15	6945	XP_016868750.1
	XM_017013265.1	13	5481	XP_016868754.1
	AB023159.2	13	5056
	AF243495.2	14	5081	AAF61269.2
	AL832778.1	15	6538
	BX647320.1	6	4378	CAI46004.1
	BX647406.1	8	4722

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428196	Chr.8:18219826 - 18542377 on Build GRCh38	Gain	NAT1 PSD3 NAT2
nsv831252	Chr.8:18347493 - 18548287 on Build GRCh38	Gain	PSD3 NAT2
nsv1026091	Chr.8:18441326 - 18617605 on Build GRCh38	Gain	LOC105379305 PSD3
nsv1026366	Chr.8:18071966 - 18557180 on Build GRCh38	Gain	NAT1 PSD3 LOC101929066 ASAH1 NAT2

More Information

Additional Information:

For this assay, SNP(s) [rs78123040] 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, DGV Variation

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of ARF protein signal transduction
positive regulation of GTPase activity

Function(s)

ARF guanyl-nucleotide exchange factor activity