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

Chr.17:81845724 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504177_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 8 - Exon 9
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 TSPAN10 CEP131 MIR4525 FN3K FSCN2 NOTUM SLC25A10 ZNF750 ANAPC11 ARL16 FOXK2 STRA13 MRPL12 GCGR CCDC57 PDE6G MAFG-AS1 TBCD C17orf89 DCXR SECTM1 RAC3 CSNK1D LOC105371944 SNORD134 LOC101929511 MAFG P4HB MIR6786 FN3KRP LOC105376790 B3GNTL1 BAHCC1 NARF C17orf62 WDR45B FASN PCYT2 ALYREF HGS GPS1 ARHGDIA ACTG1 ASPSCR1 DUS1L CCDC137 LRRC45 LOC105371925 MYADML2 TMEM105 MCRIP1 NPLOC4 MIR6787 MIR4740 RFNG LOC101929552 NPB LOC100130370 CD7 PYCR1 UTS2R OXLD1 PPP1R27 SLC16A3 TEX19 AATK FAAP100 LOC105376791 MIR3186 SLC38A10 TEPSIN OGFOD3 RAB40B SIRT7 HEXDC LINC00482 AATK-AS1
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss TSPAN10 ASPSCR1 DUS1L CCDC137 LRRC45 FSCN2 NOTUM MYADML2 MCRIP1 NPLOC4 SLC25A10 ANAPC11 ARL16 STRA13 MRPL12 RFNG GCGR PDE6G NPB MAFG-AS1 PYCR1 OXLD1 PPP1R27 FAAP100 DCXR RAC3 MAFG P4HB MIR6786 SIRT7 PCYT2 ALYREF HGS GPS1 ARHGDIA
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion TSPAN10 CCDC137 OXLD1 PPP1R27 MCRIP1 P4HB SLC25A10 MIR6786 ARL16 MRPL12 GCGR PDE6G HGS
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss ASPSCR1 NOTUM MYADML2 MAFG P4HB SIRT7 ANAPC11 NPB PCYT2 ALYREF MAFG-AS1 PYCR1 ARHGDIA
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss METRNL MIR4525 FN3K NOTUM ZNF750 ANAPC11 FOXK2 STRA13 CCDC57 MAFG-AS1 TBCD DCXR SECTM1 RAC3 CSNK1D LOC105371944 SNORD134 LOC101929511 MAFG P4HB FN3KRP LOC105376790 B3GNTL1 NARF C17orf62 WDR45B FASN PCYT2 ALYREF GPS1 ARHGDIA ASPSCR1 DUS1L LRRC45 MYADML2 MCRIP1 MIR6787 RFNG LOC101929552 NPB CD7 PYCR1 UTS2R PPP1R27 SLC16A3 TEX19 LOC105376791 OGFOD3 RAB40B SIRT7 HEXDC

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