Hs00791347_cn

• Gene Symbol: PDE6D
• Assay Reference Genome Location: Chr.2:231732871 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6D	NM_001291018.1	4	641	NP_001277947.1
	NM_002601.3	5	747	NP_002592.1
	XM_011511342.1	6	1228	XP_011509644.1
	AF022912.1	5	684	AAB87872.1
	BC007831.2	5	683	AAH07831.1
	BI754373.1	4	606

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	MIR1471 COPS7B PTMA NPPC DIS3L2 MIR1244-1 PDE6D
nsv834568	Chr.2:231625367 - 231780141 on Build GRCh38	Loss	PTMA MIR1244-1 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