Product Details

Assay Reference Genome
Location

Chr.17:35578403 on build GRCh38
Cytoband
17q12
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
5193
Gene Symbol
PEX12
Gene Name
peroxisomal biogenesis factor 12
Gene Aliases
PAF-3, PBD3A
Location
Chr.17:35574795-35578637 on build GRCh38
Assay Gene Location
Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PEX12 NM_000286.2 1 235 NP_000277.1
AK312635.1 1 148
BC015751.1 1 150
BC031085.1 1 139 AAH31085.1
DA298874.1 1 242
U91521.1 1 166 AAC68812.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953880 Chr17:35574482 - 35580081 on Build GRCh38 Duplication PEX12
nsv2038 Chr17:35569617 - 35598796 on Build GRCh38 Insertion AP2B1 LOC105371743 PEX12 SNORD7
esv3892999 Chr17:35252863 - 35925533 on Build GRCh38 Loss SLFN5 AP2B1 SLFN11 GAS2L2 PEX12 SNORD7 CCL5 RASL10B MMP28 TAF15 SLFN12 LRRC37A8P HEATR9 LOC105371933 SLFN14 LOC105371743 SLFN12L SLFN13 RDM1 C17orf50

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