Name: [Hs02181339_cn] [PGGHG]
Creator: Thermo Fisher Scientific
Keywords: [PGGHG] Assay, [protein-glucosylgalactosylhydroxylysine glucosidase] Assay

Genomic Map

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Assay Details

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:	Overlaps Exon 11 - Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PGGHG	NM_025092.4			NP_079368.3
	XM_011520383.2			XP_011518685.1
	XM_011520384.2			XP_011518686.1
	XM_011520385.2			XP_011518687.1
	XM_011520386.2			XP_011518688.1
	XM_011520387.2			XP_011518689.1
	XM_017018355.1			XP_016873844.1
	AK026288.1			BAB15431.1
	AK074155.1	6	2494	BAB84981.1
	AK090428.1	4	859	BAC03409.1
	AK296137.1
	AL832932.1			CAH56316.1
	BC109257.2			AAI09258.1
	BC109258.2			AAI09259.1

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