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

Chr.17:81846319 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504489_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 Intron 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
P4HB NM_000918.3 NP_000909.2
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 CEP131 LOC105371944 MRPL12 LOC101929552 TMEM105 MIR4525 OGFOD3 HGS ANAPC11 ALYREF C17orf62 MIR3186 AATK DCXR PDE6G HEXDC RAC3 FN3K PYCR1 BAHCC1 RAB40B SNORD134 TEPSIN ASPSCR1 CCDC57 LOC100130370 CSNK1D MIR6786 C17orf89 SIRT7 DUS1L MIR4740 NOTUM SLC16A3 MCRIP1 PCYT2 UTS2R LOC105371925 TBCD SLC25A10 TSPAN10 SECTM1 LOC101929511 FAAP100 STRA13 MAFG FOXK2 ARHGDIA NARF FASN ZNF750 SLC38A10 CD7 LINC00482 MIR6787 AATK-AS1 LRRC45 LOC105376791 PPP1R27 GCGR P4HB MAFG-AS1 WDR45B GPS1 CCDC137 FSCN2 LOC105376790 ARL16 MYADML2 RFNG NPB ACTG1 FN3KRP OXLD1 TEX19 B3GNTL1 NPLOC4
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss FAAP100 STRA13 MAFG MRPL12 ARHGDIA HGS ANAPC11 ALYREF DCXR PDE6G LRRC45 RAC3 PPP1R27 PYCR1 ASPSCR1 GCGR P4HB MIR6786 MAFG-AS1 SIRT7 DUS1L GPS1 NOTUM CCDC137 FSCN2 MCRIP1 ARL16 PCYT2 MYADML2 RFNG NPB OXLD1 SLC25A10 NPLOC4 TSPAN10
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion GCGR P4HB MIR6786 MRPL12 HGS CCDC137 MCRIP1 ARL16 PDE6G PPP1R27 OXLD1 SLC25A10 TSPAN10
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss ASPSCR1 P4HB MAFG MAFG-AS1 ARHGDIA SIRT7 ANAPC11 ALYREF NOTUM PCYT2 MYADML2 NPB PYCR1
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss LOC105371944 LOC101929552 MIR4525 OGFOD3 ANAPC11 ALYREF C17orf62 DCXR HEXDC RAC3 FN3K PYCR1 RAB40B SNORD134 ASPSCR1 CCDC57 CSNK1D SIRT7 DUS1L NOTUM SLC16A3 MCRIP1 PCYT2 UTS2R TBCD SECTM1 LOC101929511 STRA13 MAFG FOXK2 ARHGDIA NARF FASN ZNF750 METRNL CD7 MIR6787 LRRC45 LOC105376791 PPP1R27 P4HB MAFG-AS1 WDR45B GPS1 LOC105376790 MYADML2 RFNG NPB FN3KRP TEX19 B3GNTL1

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