Product Details

Assay Reference Genome
Location

Chr.17:35577050 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
Overlaps Intron 2 - Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PEX12 NM_000286.2 NP_000277.1
AB004546.1 BAA31559.1
AK312635.1
BC015751.1
BC031085.1 AAH31085.1
U91521.1 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 SNORD7 AP2B1 PEX12 LOC105371743
esv3892999 Chr17:35252863 - 35925533 on Build GRCh38 Loss SLFN12L LOC105371933 SLFN14 HEATR9 TAF15 RDM1 SLFN5 MMP28 SLFN11 GAS2L2 LRRC37A8P SNORD7 SLFN13 AP2B1 RASL10B C17orf50 SLFN12 PEX12 LOC105371743 CCL5

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