Hs03424979_cn

• Gene Symbol: PDE6D
• Assay Reference Genome Location: Chr.2:231754089 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 5147
• Gene Name: phosphodiesterase 6D
• Gene Aliases: JBTS22, PDED
• Location: Chr.2:231732425-231781327 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6D	NM_001291018.1			NP_001277947.1
	NM_002601.3			NP_002592.1
	XM_011511342.1			XP_011509644.1
	AF022912.1			AAB87872.1
	BC007831.2			AAH07831.1
	BI754373.1
	BT007278.1			AAP35942.1
	CR456980.1			CAG33261.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759117	Chr.2:231672114 - 232141148 on Build GRCh38	Gain+Loss	NPPC MIR1244-1 PTMA DIS3L2 PDE6D MIR1471 COPS7B
esv2657431	Chr.2:231752856 - 231757354 on Build GRCh38	Deletion	PDE6D
esv3594632	Chr.2:231752729 - 231757474 on Build GRCh38	Loss	PDE6D
nsv834568	Chr.2:231625367 - 231780141 on Build GRCh38	Loss	MIR1244-1 PTMA PDE6D

More Information

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

Panther Classification:

Molecular Function -

hydrolase, phosphodiesterase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

visual perception
negative regulation of GTPase activity
response to stimulus

Function(s)

3',5'-cyclic-nucleotide phosphodiesterase activity
GTPase inhibitor activity
protein binding
Rab GTPase binding