Product Details

Assay Reference Genome
Location

Chr.17:35575742 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 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PEX12 NM_000286.2 3 1736 NP_000277.1
AB004546.1 3 1305 BAA31559.1
AK312635.1
BC031085.1 3 1640 AAH31085.1
U91521.1 3 1667 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 SLFN13 AP2B1 LOC105371743 RDM1 LOC105371933 RASL10B TAF15 SNORD7 LRRC37A8P HEATR9 SLFN12L SLFN14 GAS2L2 SLFN11 SLFN5 PEX12 SLFN12 C17orf50 MMP28 CCL5

View Full Product Details