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

Chr.17:81843829 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504122_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 1907 NP_000909.2
AB062434.1 2 355 BAB93497.1
AK095938.1 11 1785
AK128783.1 8 1155
AK297081.1
AK297967.1 10 1727
BC010859.1 11 1754 AAH10859.1
BC014504.1 7 1006
BC029617.1 11 1754 AAH29617.1
BC071892.1 11 1713 AAH71892.1
CA412209.1
J02783.1 11 1773 AAA61169.1
X05130.1 11 1739 CAA28775.1
X07077.1 5 834 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 ASPSCR1 MAFG ACTG1 MIR4740 FASN FSCN2 NPB SLC38A10 CD7 FOXK2 AATK-AS1 GCGR UTS2R TBCD NARF P4HB CCDC57 PDE6G LOC100130370 GPS1 CSNK1D ALYREF SLC25A10 HEXDC B3GNTL1 TMEM105 MIR3186 DCXR C17orf89 CCDC137 PPP1R27 LOC105376790 PYCR1 TEPSIN C17orf62 LOC101929511 LOC101929552 MIR6786 STRA13 TEX19 MYADML2 ARHGDIA ANAPC11 WDR45B FN3K SIRT7 ZNF750 SNORD134 OGFOD3 CEP131 TSPAN10 LOC105371925 MIR4525 MCRIP1 PCYT2 OXLD1 RAB40B SLC16A3 NOTUM LOC105376791 LOC105371944 MIR6787 MRPL12 LRRC45 RFNG DUS1L FN3KRP AATK RAC3 SECTM1 HGS NPLOC4 FAAP100 ARL16 MAFG-AS1 LINC00482 BAHCC1
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss MYADML2 ARHGDIA ANAPC11 ASPSCR1 MAFG SIRT7 FSCN2 NPB GCGR P4HB TSPAN10 PDE6G GPS1 MCRIP1 ALYREF PCYT2 OXLD1 SLC25A10 NOTUM MRPL12 DCXR LRRC45 RFNG DUS1L CCDC137 PPP1R27 PYCR1 RAC3 HGS NPLOC4 FAAP100 ARL16 MAFG-AS1 MIR6786 STRA13
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion MRPL12 CCDC137 PPP1R27 HGS ARL16 GCGR MIR6786 P4HB TSPAN10 PDE6G MCRIP1 OXLD1 SLC25A10
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss MYADML2 ARHGDIA ANAPC11 ASPSCR1 MAFG SIRT7 NPB PYCR1 MAFG-AS1 P4HB ALYREF PCYT2 NOTUM
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss ASPSCR1 MAFG FASN NPB CD7 FOXK2 UTS2R TBCD NARF P4HB CCDC57 GPS1 CSNK1D ALYREF HEXDC METRNL B3GNTL1 DCXR PPP1R27 LOC105376790 PYCR1 C17orf62 LOC101929511 LOC101929552 STRA13 TEX19 MYADML2 ARHGDIA ANAPC11 WDR45B FN3K SIRT7 ZNF750 SNORD134 OGFOD3 MIR4525 MCRIP1 PCYT2 RAB40B SLC16A3 NOTUM LOC105376791 LOC105371944 MIR6787 LRRC45 RFNG DUS1L FN3KRP RAC3 SECTM1 MAFG-AS1

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