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See other PGGHG CNV Assays ›
Gene Symbol
PGGHG
Assay Reference Genome
Location

Chr.11:295135 on build GRCh38
Cytoband
11p15.5
Assay ID Hs02382466_cn
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Availability Made To Order
Catalog # 4400291
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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:

 Within Exon 17
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PGGHG NM_025092.4 14 2715 NP_079368.3
XM_011520383.2 17 3641 XP_011518685.1
XM_011520384.2 16 3698 XP_011518686.1
XM_017018355.1 15 3093 XP_016873844.1
AK026288.1 8 1357 BAB15431.1
AK074155.1 11 3877 BAB84981.1
AK090428.1 8 2332 BAC03409.1
AK296137.1 10 1594
AL832932.1 7 1373 CAH56316.1
BC109257.2 11 2114 AAI09258.1
BC109258.2 11 2114 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 IFITM3 IFITM1 PGGHG IFITM2 IFITM5
nsv516809 Chr.11:290233 - 295876 on Build GRCh38 Loss PGGHG
nsv552765 Chr.11:199256 - 320836 on Build GRCh38 Gain MIR6743 NLRP6 IFITM3 IFITM1 SIRT3 PGGHG PSMD13 BET1L IFITM2 IFITM5 ODF3 RIC8A
dgv1505n54 Chr.11:198510 - 470331 on Build GRCh38 Gain B4GALNT4 IFITM2 ANO9 IFITM5 PKP3 ODF3 RIC8A MIR6743 NLRP6 IFITM3 IFITM1 PTDSS2 SIRT3 PGGHG PSMD13 BET1L SIGIRR

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Function(s) Process(es)


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