Assay Details
Target Gene Details
Entrez Gene ID: | 9796 |
Gene Name: | phytanoyl-CoA 2-hydroxylase interacting protein |
Gene Aliases: |
DYRK1AP3, PAHX-AP, PAHXAP1 |
Location: |
Chr.8:22219703-22232338 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHYHIP | NM_001099335.1 | 6 | 2673 | NP_001092805.1 |
NM_014759.3 | 5 | 2551 | NP_055574.3 | |
XM_006716416.1 | XP_006716479.1 | |||
XM_017014102.1 | 3 | 2816 | XP_016869591.1 | |
AK098743.1 | ||||
BC034034.1 | 5 | 2304 | AAH34034.1 | |
BC035940.1 | 5 | 2304 | AAH35940.1 | |
D87463.1 | 6 | 2382 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470205 | Chr.8:22191277 - 22256052 on Build GRCh38 | Loss | PHYHIP LOC100507071 BMP1 MIR320A POLR3D |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | NUDT18 FAM160B2 PHYHIP SFTPC HR FGF17 REEP4 BMP1 MIR320A DMTN LGI3 POLR3D |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | PHYHIP LOC100507071 BMP1 MIR320A PIWIL2 POLR3D |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | NUDT18 FAM160B2 PHYHIP SFTPC LOC100507071 HR REEP4 BMP1 MIR320A LGI3 PIWIL2 POLR3D |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | NUDT18 SFTPC C8orf58 RHOBTB2 HR REEP4 LOC254896 LOC286059 LOC286114 TNFRSF10B LOC100507071 LOC107984124 LOC102467222 NPM2 LOC389641 SLC39A14 BIN3-IT1 PPP3CC TNFRSF10C TNFRSF10D EGR3 BIN3 SORBS3 CHMP7 DMTN LGI3 XPO7 PIWIL2 DOK2 POLR3D FAM160B2 PHYHIP PEBP4 PDLIM2 GFRA2 LOC101929172 FGF17 BMP1 CCAR2 LOC101929237 MIR320A LOC107986876 TNFRSF10A |
More Information
Additional Information:
For this assay, SNP(s) [rs73551785] 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 |