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

Chr.17:81845628 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504163_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 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
P4HB NM_000918.3 9 1489 NP_000909.2
AK095938.1 9 1367
AK128783.1 6 737
AK297081.1 9 1215
AK297967.1 8 1309
AK300561.1 8 1219
AK315631.1 9 1320
BC010859.1 9 1336 AAH10859.1
BC014504.1 5 588
BC029617.1 9 1336 AAH29617.1
BC071892.1 9 1295 AAH71892.1
CA412209.1
J02783.1 9 1355 AAA61169.1
X05130.1 9 1321 CAA28775.1
X07077.1 3 416 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 PDE6G TSPAN10 SLC16A3 AATK ANAPC11 OXLD1 SNORD134 TEX19 B3GNTL1 ASPSCR1 NOTUM CD7 LOC105371925 MIR6787 PCYT2 HEXDC PPP1R27 P4HB LOC101929552 RAC3 ARL16 RAB40B CSNK1D STRA13 MAFG-AS1 BAHCC1 PYCR1 AATK-AS1 CCDC137 TEPSIN C17orf89 FN3K NARF GCGR ALYREF SECTM1 MIR3186 MAFG ZNF750 SLC25A10 TMEM105 MIR4525 LRRC45 UTS2R FASN LINC00482 FAAP100 SLC38A10 LOC100130370 LOC105376790 DCXR MIR6786 SIRT7 C17orf62 OGFOD3 MRPL12 GPS1 MIR4740 LOC101929511 NPLOC4 FN3KRP ACTG1 LOC105371944 NPB HGS FSCN2 WDR45B MCRIP1 CCDC57 FOXK2 LOC105376791 RFNG DUS1L ARHGDIA MYADML2 TBCD
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss PDE6G TSPAN10 GCGR ALYREF MAFG SLC25A10 ANAPC11 OXLD1 LRRC45 ASPSCR1 FAAP100 DCXR NOTUM MIR6786 SIRT7 MRPL12 GPS1 PCYT2 NPLOC4 PPP1R27 P4HB NPB RAC3 HGS FSCN2 ARL16 MCRIP1 STRA13 MAFG-AS1 PYCR1 RFNG DUS1L CCDC137 ARHGDIA MYADML2
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion PDE6G TSPAN10 GCGR PPP1R27 P4HB SLC25A10 HGS ARL16 OXLD1 MCRIP1 MIR6786 CCDC137 MRPL12
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss ALYREF P4HB MAFG NPB ANAPC11 MAFG-AS1 ASPSCR1 PYCR1 NOTUM SIRT7 ARHGDIA MYADML2 PCYT2
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss SLC16A3 ANAPC11 SNORD134 TEX19 B3GNTL1 ASPSCR1 NOTUM CD7 MIR6787 PCYT2 HEXDC PPP1R27 P4HB LOC101929552 RAC3 RAB40B CSNK1D STRA13 MAFG-AS1 PYCR1 FN3K NARF ALYREF SECTM1 MAFG ZNF750 MIR4525 LRRC45 UTS2R FASN LOC105376790 DCXR SIRT7 C17orf62 OGFOD3 GPS1 LOC101929511 FN3KRP LOC105371944 NPB WDR45B MCRIP1 CCDC57 FOXK2 LOC105376791 RFNG DUS1L ARHGDIA MYADML2 TBCD METRNL

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