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

Chr.11:294633 on build GRCh38
Cytoband
11p15.5
Assay ID Hs00253524_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 2213 NP_079368.3
XM_011520383.2 17 3139 XP_011518685.1
XM_011520384.2 16 3196 XP_011518686.1
XM_017018355.1 15 2591 XP_016873844.1
AK026288.1 BAB15431.1
AK074155.1 11 3375 BAB84981.1
AK090428.1 8 1830 BAC03409.1
AK296137.1 10 1092
AL832932.1 7 871 CAH56316.1
BC109257.2 11 1612 AAI09258.1
BC109258.2 11 1612 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 IFITM5 IFITM1 NLRP6 PGGHG IFITM2 IFITM3
nsv516809 Chr.11:290233 - 295876 on Build GRCh38 Loss PGGHG
nsv552765 Chr.11:199256 - 320836 on Build GRCh38 Gain ODF3 BET1L IFITM5 IFITM1 NLRP6 MIR6743 PGGHG IFITM2 IFITM3 PSMD13 RIC8A SIRT3
dgv1505n54 Chr.11:198510 - 470331 on Build GRCh38 Gain ODF3 PKP3 NLRP6 SIGIRR IFITM2 SIRT3 BET1L IFITM5 B4GALNT4 ANO9 IFITM1 MIR6743 PTDSS2 PGGHG IFITM3 PSMD13 RIC8A

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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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