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

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