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

Chr.11:295305 on build GRCh38
Cytoband
11p15.5
Assay ID Hs02048095_cn
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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 2885 NP_079368.3
XM_011520383.2 17 3811 XP_011518685.1
XM_011520384.2 16 3868 XP_011518686.1
XM_017018355.1 15 3263 XP_016873844.1
AI217945.1
AK026288.1 8 1527 BAB15431.1
AK074155.1 11 4047 BAB84981.1
AK090428.1 8 2502 BAC03409.1
AK296137.1
AL832932.1 CAH56316.1
BC109257.2 11 2284 AAI09258.1
BC109258.2 11 2284 AAI09259.1
BM842384.1 1 97

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv527327 Chr.11:295343 - 620599 on Build GRCh38 Loss LMNTD2 RNH1 CDHR5 ANO9 SIGIRR LOC101059906 MIR210HG IFITM5 IFITM1 IFITM3 MIR210 B4GALNT4 PKP3 HRAS IRF7 PTDSS2 RASSF7 PGGHG PHRF1 IFITM2 LOC143666 LRRC56
esv3891905 Chr.11:269147 - 336332 on Build GRCh38 Gain IFITM3 IFITM5 PGGHG IFITM2 IFITM1 NLRP6
nsv516809 Chr.11:290233 - 295876 on Build GRCh38 Loss PGGHG
nsv552765 Chr.11:199256 - 320836 on Build GRCh38 Gain IFITM3 BET1L SIRT3 MIR6743 ODF3 PSMD13 IFITM5 RIC8A PGGHG IFITM2 IFITM1 NLRP6
dgv1505n54 Chr.11:198510 - 470331 on Build GRCh38 Gain MIR6743 ODF3 ANO9 SIGIRR IFITM5 RIC8A IFITM1 NLRP6 IFITM3 BET1L SIRT3 B4GALNT4 PKP3 PSMD13 PTDSS2 PGGHG IFITM2

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More Information


Additional Information:

For this assay, SNP(s) [rs73396562] 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:

Function(s) Process(es)


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