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

Chr.17:81845182 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07503868_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:

 Overlaps Intron 10 - Exon 10
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 TSPAN10 NOTUM LOC101929552 LOC100130370 ACTG1 WDR45B RAB40B CCDC57 ARL16 FN3K FASN CSNK1D PCYT2 MAFG-AS1 PDE6G B3GNTL1 OGFOD3 OXLD1 GPS1 RAC3 LOC105371925 NPLOC4 STRA13 SLC16A3 MAFG FOXK2 ZNF750 HGS MRPL12 LOC101929511 CD7 AATK-AS1 TEX19 SIRT7 PPP1R27 SLC38A10 TMEM105 HEXDC DCXR UTS2R MIR6786 LOC105376790 ANAPC11 CCDC137 BAHCC1 LOC105376791 MIR4740 MIR6787 NPB MIR4525 SECTM1 LRRC45 DUS1L TBCD P4HB FSCN2 C17orf62 LOC105371944 MYADML2 FN3KRP CEP131 ASPSCR1 RFNG AATK FAAP100 GCGR MIR3186 ALYREF LINC00482 SNORD134 C17orf89 SLC25A10 TEPSIN PYCR1 ARHGDIA MCRIP1 NARF
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss TSPAN10 NOTUM NPB LRRC45 DUS1L ARL16 P4HB FSCN2 MYADML2 PCYT2 MAFG-AS1 PDE6G ASPSCR1 RFNG FAAP100 OXLD1 GCGR GPS1 RAC3 NPLOC4 STRA13 ALYREF MAFG HGS MRPL12 SIRT7 PPP1R27 SLC25A10 PYCR1 DCXR ARHGDIA MIR6786 MCRIP1 ANAPC11 CCDC137
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion TSPAN10 ARL16 HGS MRPL12 P4HB PPP1R27 SLC25A10 PDE6G MIR6786 MCRIP1 OXLD1 CCDC137 GCGR
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss NOTUM ALYREF MAFG NPB P4HB SIRT7 MYADML2 PCYT2 MAFG-AS1 PYCR1 ASPSCR1 ARHGDIA ANAPC11
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss NOTUM LOC101929552 WDR45B RAB40B CCDC57 FN3K FASN CSNK1D PCYT2 MAFG-AS1 B3GNTL1 OGFOD3 GPS1 RAC3 STRA13 SLC16A3 MAFG FOXK2 ZNF750 LOC101929511 CD7 TEX19 SIRT7 PPP1R27 HEXDC DCXR UTS2R LOC105376790 ANAPC11 LOC105376791 MIR6787 NPB METRNL MIR4525 SECTM1 LRRC45 DUS1L TBCD P4HB C17orf62 LOC105371944 MYADML2 FN3KRP ASPSCR1 RFNG ALYREF SNORD134 PYCR1 ARHGDIA MCRIP1 NARF

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