Hs02846692_cn

• Gene Symbol: PGGHG
• Assay Reference Genome Location: Chr.11:290877 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 80162
• Gene Name: protein-glucosylgalactosylhydroxylysine glucosidase
• Gene Aliases: ATHL1
• Location: Chr.11:287760-295688 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PGGHG	NM_025092.4	4	785	NP_079368.3
	XM_011520383.2	7	1711	XP_011518685.1
	XM_011520384.2	6	1822	XP_011518686.1
	XM_011520385.2	6	1825	XP_011518687.1
	XM_011520386.2	6	1825	XP_011518688.1
	XM_011520387.2	6	1825	XP_011518689.1
	XM_017018355.1	5	1163	XP_016873844.1
	AK026288.1	1	196	BAB15431.1
	AK074155.1	4	788	BAB84981.1
	BC109257.2	1	184	AAI09258.1
	BC109258.2	1	184	AAI09259.1
	BP262327.1	1	196

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891905	Chr.11:269147 - 336332 on Build GRCh38	Gain	IFITM5 IFITM1 PGGHG NLRP6 IFITM3 IFITM2
nsv516809	Chr.11:290233 - 295876 on Build GRCh38	Loss	PGGHG
nsv552765	Chr.11:199256 - 320836 on Build GRCh38	Gain	BET1L SIRT3 RIC8A IFITM5 IFITM1 MIR6743 PGGHG NLRP6 IFITM3 PSMD13 ODF3 IFITM2
dgv1505n54	Chr.11:198510 - 470331 on Build GRCh38	Gain	BET1L SIRT3 RIC8A PGGHG NLRP6 IFITM3 PSMD13 PTDSS2 ODF3 PKP3 ANO9 IFITM5 IFITM1 MIR6743 SIGIRR B4GALNT4 IFITM2

More Information

Additional Information:

For this assay, SNP(s) [rs72636977] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

hydrolase activity
hydrolase activity, acting on glycosyl bonds