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Gene Symbol
P4HB
Assay Reference Genome
Location

Chr.17:81846502 on build GRCh38
Cytoband
17q25.3
Assay ID Hs07504757_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 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
P4HB NM_000918.3 7 1180 NP_000909.2
AK095938.1 7 1058
AK128783.1 4 428
AK297081.1 7 906
AK297967.1 6 1000
AK298005.1 6 936
AK300561.1 6 910
AK308600.1 5 835
AK315631.1 7 1011
BC010859.1 7 1027 AAH10859.1
BC014504.1 3 279
BC029617.1 7 1027 AAH29617.1
BC071892.1 7 986 AAH71892.1
CA412209.1
J02783.1 7 1046 AAA61169.1
X05130.1 7 1012 CAA28775.1
X07077.1 1 107 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 SLC16A3 SIRT7 MAFG RFNG FOXK2 ZNF750 MIR6787 FASN ARL16 MIR3186 B3GNTL1 NPLOC4 SECTM1 ALYREF FN3KRP C17orf62 CEP131 LOC105371925 UTS2R LOC105376791 TEX19 MYADML2 RAB40B NARF DCXR LOC105371944 LOC105376790 MCRIP1 LOC101929511 MRPL12 MAFG-AS1 NOTUM OXLD1 HEXDC PCYT2 TMEM105 PYCR1 SLC25A10 PPP1R27 AATK-AS1 TBCD HGS CCDC137 LOC100130370 DUS1L GPS1 ASPSCR1 LRRC45 MIR4740 CSNK1D GCGR BAHCC1 MIR4525 ARHGDIA FN3K AATK NPB WDR45B P4HB PDE6G CCDC57 OGFOD3 SLC38A10 FAAP100 SNORD134 FSCN2 C17orf89 ANAPC11 TEPSIN ACTG1 RAC3 LINC00482 STRA13 TSPAN10 MIR6786 CD7 LOC101929552
nsv470620 Chr.17:81516973 - 82064485 on Build GRCh38 Loss SIRT7 HGS CCDC137 MAFG RFNG ARL16 DUS1L GPS1 ASPSCR1 LRRC45 NPLOC4 GCGR ARHGDIA ALYREF NPB P4HB PDE6G MYADML2 DCXR MCRIP1 MRPL12 MAFG-AS1 NOTUM OXLD1 FAAP100 FSCN2 ANAPC11 PCYT2 RAC3 STRA13 TSPAN10 MIR6786 PYCR1 SLC25A10 PPP1R27
nsv952390 Chr.17:81637175 - 81860124 on Build GRCh38 Deletion P4HB HGS CCDC137 PDE6G MCRIP1 ARL16 MRPL12 OXLD1 GCGR TSPAN10 MIR6786 SLC25A10 PPP1R27
nsv833569 Chr.17:81838937 - 82011412 on Build GRCh38 Loss NPB P4HB SIRT7 MAFG MYADML2 ASPSCR1 MAFG-AS1 NOTUM ARHGDIA ANAPC11 PCYT2 ALYREF PYCR1
esv21913 Chr.17:81828123 - 83103548 on Build GRCh38 Gain+Loss SLC16A3 SIRT7 MAFG RFNG FOXK2 ZNF750 MIR6787 FASN B3GNTL1 SECTM1 ALYREF FN3KRP C17orf62 UTS2R LOC105376791 TEX19 MYADML2 RAB40B NARF DCXR LOC105371944 LOC105376790 MCRIP1 LOC101929511 MAFG-AS1 NOTUM HEXDC PCYT2 PYCR1 METRNL PPP1R27 TBCD DUS1L GPS1 ASPSCR1 LRRC45 CSNK1D MIR4525 ARHGDIA FN3K NPB WDR45B P4HB CCDC57 OGFOD3 SNORD134 ANAPC11 RAC3 STRA13 CD7 LOC101929552

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