Hs02960637_cn

• Gene Symbol: PRTFDC1
• Assay Reference Genome Location: Chr.10:24856981 on build GRCh38
• Cytoband: 10p12.1

Target Gene Details

• Entrez Gene ID: 56952
• Gene Name: phosphoribosyl transferase domain containing 1
• Gene Aliases: HHGP
• Location: Chr.10:24848607-24952644 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRTFDC1	NM_001282786.1			NP_001269715.1
	NM_020200.6			NP_064585.1
	AB209792.1			BAD93029.1
	AF226056.1			AAF86956.1
	AK021950.1			BAB13944.1
	AK222674.1			BAD96394.1
	AK294130.1
	AK309614.1	6	1366
	BC008662.2			AAH08662.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2657741	Chr.10:24856637 - 24857820 on Build GRCh38	Deletion	PRTFDC1
esv3622656	Chr.10:24856653 - 24857771 on Build GRCh38	Loss	PRTFDC1

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

adenine salvage
guanine salvage
GMP salvage
IMP salvage
GMP catabolic process
hypoxanthine metabolic process

Function(s)

nucleotide binding
magnesium ion binding
hypoxanthine phosphoribosyltransferase activity
protein binding
protein homodimerization activity