Hs00785710_cn

• Gene Symbol: GPHN
• Assay Reference Genome Location: Chr.14:67726059 on build GRCh38
• Cytoband: 14q24.1

Target Gene Details

• Entrez Gene ID: 10243
• Gene Name: gephyrin
• Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Location: Chr.14:66507407-67735831 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Target Gene Details

• Entrez Gene ID: 145226
• Gene Name: retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
• Gene Aliases: LCA13, RP53, SDR7C2
• Location: Chr.14:67701886-67734451 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH12	NM_152443.2			NP_689656.2
	AK054835.1			BAB70811.1
	AK315462.1
	BC025724.1			AAH25724.1
	KU178865.1
	KU178866.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521832	Chr.14:67674292 - 67738159 on Build GRCh38	Loss	GPHN RDH12 RDH11 VTI1B ZFYVE26

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
glycine receptor clustering
gamma-aminobutyric acid receptor clustering
retinoid metabolic process
visual perception
retinol metabolic process
photoreceptor cell maintenance
response to stimulus
oxidation-reduction process

Function(s)

protein binding
ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity
retinol dehydrogenase activity
NADP-retinol dehydrogenase activity