Assay Details
Target Gene Details
Entrez Gene ID: | 5034 |
Gene Name: | prolyl 4-hydroxylase subunit beta |
Gene Aliases: |
CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB |
Location: |
Chr.17:81843158-81860668 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 10 - Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | NP_000909.2 | ||
AB062434.1 | BAB93497.1 | |||
AK095938.1 | ||||
AK128783.1 | ||||
AK297081.1 | ||||
AK297967.1 | ||||
AK300561.1 | ||||
AK315631.1 | ||||
BC010859.1 | AAH10859.1 | |||
BC014504.1 | ||||
BC029617.1 | AAH29617.1 | |||
BC071892.1 | AAH71892.1 | |||
CA412209.1 | ||||
J02783.1 | AAA61169.1 | |||
X05130.1 | CAA28775.1 | |||
X07077.1 | CAA30112.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | MIR3186 BAHCC1 CCDC57 FAAP100 C17orf62 ACTG1 MIR6787 FN3KRP LOC101929552 LOC105371944 DUS1L FOXK2 ARL16 MIR6786 TSPAN10 PDE6G AATK-AS1 CCDC137 FN3K SECTM1 MCRIP1 SLC25A10 LOC105376790 FSCN2 PCYT2 FASN TEX19 C17orf89 RAC3 HGS PYCR1 LOC101929511 P4HB NPB SLC16A3 MAFG-AS1 LINC00482 TEPSIN TMEM105 NPLOC4 NARF NOTUM CEP131 DCXR STRA13 OXLD1 ALYREF ARHGDIA ASPSCR1 LOC105371925 MIR4525 LOC105376791 SNORD134 B3GNTL1 OGFOD3 WDR45B GPS1 LRRC45 HEXDC ANAPC11 MRPL12 UTS2R ZNF750 SLC38A10 MAFG GCGR PPP1R27 CSNK1D RFNG MYADML2 MIR4740 AATK CD7 RAB40B SIRT7 TBCD LOC100130370 |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | FAAP100 NOTUM DCXR DUS1L STRA13 OXLD1 ALYREF ARHGDIA ARL16 MIR6786 ASPSCR1 TSPAN10 PDE6G CCDC137 GPS1 MCRIP1 LRRC45 ANAPC11 SLC25A10 MRPL12 FSCN2 PCYT2 RAC3 MAFG GCGR PPP1R27 HGS PYCR1 P4HB NPB RFNG MYADML2 MAFG-AS1 SIRT7 NPLOC4 |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | MRPL12 GCGR PPP1R27 HGS P4HB OXLD1 ARL16 MIR6786 TSPAN10 PDE6G CCDC137 MCRIP1 SLC25A10 |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | PCYT2 MAFG NOTUM PYCR1 P4HB NPB ALYREF ARHGDIA ASPSCR1 MYADML2 MAFG-AS1 SIRT7 ANAPC11 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | CCDC57 C17orf62 MIR6787 FN3KRP LOC101929552 LOC105371944 DUS1L FOXK2 FN3K SECTM1 MCRIP1 LOC105376790 PCYT2 METRNL FASN TEX19 RAC3 PYCR1 LOC101929511 P4HB NPB SLC16A3 MAFG-AS1 NARF NOTUM DCXR STRA13 ALYREF ARHGDIA ASPSCR1 MIR4525 LOC105376791 SNORD134 B3GNTL1 OGFOD3 WDR45B GPS1 LRRC45 HEXDC ANAPC11 UTS2R ZNF750 MAFG PPP1R27 CSNK1D RFNG MYADML2 CD7 RAB40B SIRT7 TBCD |
More Information
Additional Information:
For this assay, SNP(s) [rs112897683,rs138348620] 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 Non-exonic DGV Variation |