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

Chr.17:81846405 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504743_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 7 - Exon 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
AK298005.1
AK300561.1
AK308600.1
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 LOC101929552 LOC105371925 B3GNTL1 TEPSIN LOC105376790 LOC105371944 WDR45B LINC00482 OGFOD3 LOC105376791 MYADML2 SIRT7 AATK-AS1 FOXK2 MIR6786 PPP1R27 TSPAN10 NPLOC4 P4HB TMEM105 MCRIP1 ANAPC11 CD7 CSNK1D MRPL12 AATK GPS1 ARHGDIA RFNG RAB40B LRRC45 SLC38A10 NPB SLC25A10 SNORD134 LOC100130370 TEX19 ACTG1 NOTUM SECTM1 UTS2R FASN PYCR1 MIR6787 HGS MAFG LOC101929511 FN3K ARL16 CEP131 STRA13 SLC16A3 DCXR NARF RAC3 OXLD1 GCGR BAHCC1 HEXDC TBCD PCYT2 MIR4525 DUS1L C17orf62 FSCN2 MIR4740 FAAP100 FN3KRP CCDC57 PDE6G ASPSCR1 ZNF750 ALYREF MAFG-AS1 C17orf89 CCDC137
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss NOTUM PYCR1 HGS MAFG MYADML2 SIRT7 ARL16 STRA13 MIR6786 PPP1R27 DCXR TSPAN10 NPLOC4 RAC3 OXLD1 GCGR PCYT2 P4HB DUS1L MCRIP1 ANAPC11 MRPL12 FSCN2 GPS1 ARHGDIA FAAP100 RFNG PDE6G ASPSCR1 LRRC45 NPB SLC25A10 ALYREF MAFG-AS1 CCDC137
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion MCRIP1 MRPL12 HGS ARL16 PDE6G MIR6786 PPP1R27 TSPAN10 SLC25A10 OXLD1 GCGR P4HB CCDC137
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss ANAPC11 NOTUM PYCR1 ARHGDIA MAFG MYADML2 SIRT7 ASPSCR1 NPB ALYREF MAFG-AS1 PCYT2 P4HB
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss LOC101929552 B3GNTL1 LOC105376790 LOC105371944 WDR45B OGFOD3 LOC105376791 MYADML2 SIRT7 FOXK2 PPP1R27 P4HB MCRIP1 ANAPC11 CD7 CSNK1D GPS1 ARHGDIA RFNG RAB40B LRRC45 NPB SNORD134 TEX19 NOTUM SECTM1 UTS2R FASN PYCR1 MIR6787 MAFG LOC101929511 FN3K STRA13 SLC16A3 DCXR NARF RAC3 HEXDC TBCD PCYT2 MIR4525 DUS1L C17orf62 METRNL FN3KRP CCDC57 ASPSCR1 ZNF750 ALYREF MAFG-AS1

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