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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEX12 | NM_000286.2 | 3 | 1940 | NP_000277.1 |
AB004546.1 | 3 | 1509 | BAA31559.1 | |
BC031085.1 | 3 | 1844 | AAH31085.1 | |
U91521.1 | 3 | 1871 | 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 | AP2B1 PEX12 LOC105371743 SNORD7 |
esv3892999 | Chr.17:35252863 - 35925533 on Build GRCh38 | Loss | CCL5 LOC105371933 SLFN12L HEATR9 LRRC37A8P C17orf50 PEX12 SLFN11 SLFN5 RASL10B AP2B1 SLFN14 SLFN13 RDM1 MMP28 LOC105371743 TAF15 SNORD7 GAS2L2 SLFN12 |
More Information
Additional Information:
For this assay, SNP(s) [rs113891712] 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 |