Assay Details
Target Gene Details
Entrez Gene ID: | 5193 |
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 Transcript Location | Protein ID |
---|---|---|---|---|
PEX12 | NM_000286.2 | 1 | 548 | NP_000277.1 |
AB004546.1 | 1 | 117 | BAA31559.1 | |
AK312635.1 | 1 | 461 | ||
BC015751.1 | 1 | 463 | ||
BC031085.1 | 1 | 452 | AAH31085.1 | |
DA298874.1 | ||||
U91521.1 | 1 | 479 | AAC68812.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953880 | Chr.17:35574482 - 35580081 on Build GRCh38 | Duplication | PEX12 |
nsv2038 | Chr.17:35569617 - 35598796 on Build GRCh38 | Insertion | PEX12 AP2B1 LOC105371743 SNORD7 |
esv3892999 | Chr.17:35252863 - 35925533 on Build GRCh38 | Loss | MMP28 SLFN13 GAS2L2 AP2B1 SLFN12 RDM1 HEATR9 LOC105371743 TAF15 SLFN11 LRRC37A8P SLFN12L CCL5 SLFN14 RASL10B PEX12 LOC105371933 SLFN5 C17orf50 SNORD7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |