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See other P4HB CNV Assays ›
Gene Symbol
P4HB
Assay Reference Genome
Location

Chr.17:81843933 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504148_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 Within Exon 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
P4HB NM_000918.3 11 1803 NP_000909.2
AB062434.1 2 251 BAB93497.1
AK095938.1 11 1681
AK128783.1 8 1051
AK297081.1
AK297967.1 10 1623
BC010859.1 11 1650 AAH10859.1
BC014504.1 7 902
BC029617.1 11 1650 AAH29617.1
BC071892.1 11 1609 AAH71892.1
CA412209.1
J02783.1 11 1669 AAA61169.1
X05130.1 11 1635 CAA28775.1
X07077.1 5 730 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 MIR6786 MYADML2 RAC3 LOC100130370 TMEM105 NARF SLC16A3 RFNG TBCD TEX19 MCRIP1 LOC105376790 SLC25A10 PDE6G MIR3186 PCYT2 MIR4740 NPB LOC105376791 MIR4525 SNORD134 CSNK1D FASN C17orf62 GCGR TSPAN10 ANAPC11 CEP131 MAFG-AS1 ACTG1 NPLOC4 AATK SLC38A10 C17orf89 DUS1L LOC105371944 RAB40B ZNF750 LINC00482 LOC105371925 CCDC137 UTS2R LRRC45 GPS1 ARHGDIA PYCR1 FAAP100 SECTM1 MIR6787 B3GNTL1 FN3K BAHCC1 SIRT7 TEPSIN HEXDC STRA13 OGFOD3 PPP1R27 HGS FOXK2 CD7 NOTUM LOC101929552 ARL16 MRPL12 FN3KRP DCXR P4HB CCDC57 MAFG FSCN2 LOC101929511 ASPSCR1 OXLD1 AATK-AS1 ALYREF WDR45B
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss MIR6786 PYCR1 FAAP100 MYADML2 RAC3 RFNG MCRIP1 SIRT7 SLC25A10 STRA13 PDE6G PCYT2 PPP1R27 NPB HGS NOTUM ARL16 GCGR TSPAN10 MRPL12 ANAPC11 DCXR P4HB MAFG-AS1 NPLOC4 MAFG FSCN2 DUS1L ASPSCR1 OXLD1 CCDC137 ALYREF LRRC45 GPS1 ARHGDIA
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion MIR6786 ARL16 GCGR TSPAN10 MRPL12 P4HB MCRIP1 SLC25A10 PDE6G PPP1R27 HGS OXLD1 CCDC137
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss PYCR1 MYADML2 ANAPC11 P4HB MAFG-AS1 SIRT7 MAFG PCYT2 NPB ASPSCR1 NOTUM ALYREF ARHGDIA
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss MYADML2 RAC3 NARF SLC16A3 RFNG TBCD TEX19 MCRIP1 LOC105376790 PCYT2 NPB LOC105376791 MIR4525 SNORD134 CSNK1D FASN C17orf62 ANAPC11 MAFG-AS1 DUS1L LOC105371944 RAB40B ZNF750 UTS2R LRRC45 GPS1 ARHGDIA PYCR1 SECTM1 MIR6787 B3GNTL1 FN3K SIRT7 HEXDC STRA13 OGFOD3 PPP1R27 FOXK2 CD7 NOTUM LOC101929552 FN3KRP DCXR P4HB CCDC57 MAFG LOC101929511 ASPSCR1 METRNL ALYREF WDR45B

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