Hs00610707_cn

• Gene Symbol: PDE6D
• Assay Reference Genome Location: Chr.2:231739144 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6D	NM_001291018.1	2	308	NP_001277947.1
	NM_002601.3	2	308	NP_002592.1
	XM_011511342.1	3	789	XP_011509644.1
	AF022912.1	2	245	AAB87872.1
	BC007831.2	2	244	AAH07831.1
	BI754373.1	2	272
	BT007278.1	2	95	AAP35942.1
	CR456980.1	2	95	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	MIR1244-1 MIR1471 PTMA NPPC DIS3L2 COPS7B PDE6D
nsv834568	Chr.2:231625367 - 231780141 on Build GRCh38	Loss	MIR1244-1 PTMA PDE6D

More Information

• Set Membership: Intragenic, 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