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See other BPNT1 CNV Assays ›
Gene Symbol
BPNT1
Assay Reference Genome
Location

Chr.1:220067359 on build GRCh38
Cytoband
1q41
Assay ID Hs02521022_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 10380

Gene Name:

 3'(2'), 5'-bisphosphate nucleotidase 1

Gene Aliases:

 HEL20, PIP

Location:

 Chr.1:220057482-220089916 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 5 - Exon 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BPNT1 NM_001286149.1 NP_001273078.1
NM_001286150.1 NP_001273079.1
NM_001286151.1 NP_001273080.1
NM_006085.5 NP_006076.4
XM_005272998.2 XP_005273055.1
XM_005272999.4 XP_005273056.1
XM_005273000.4 XP_005273057.1
XM_005273004.2 XP_005273061.1
XM_005273005.4 XP_005273062.1
XM_006711114.3 XP_006711177.1
XM_011509063.2 XP_011507365.1
XM_011509064.2 XP_011507366.1
XM_011509065.2 XP_011507367.1
XM_017000043.1 XP_016855532.1
XM_017000044.1 XP_016855533.1
XM_017000045.1 XP_016855534.1
XM_017000046.1 XP_016855535.1
AF125042.1 AAD17329.1
AJ249339.1 CAB65115.1
AK021941.1
AK291943.1
AK298476.1
AK300777.1
AK315962.1
BC017801.1 AAH17801.1
BG428446.1
EU794594.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv832636 Chr.1:219966355 - 220121010 on Build GRCh38 Loss BPNT1 MIR215 EPRS IARS2 MIR194-1
nsv4632 Chr.1:220041527 - 220076852 on Build GRCh38 Insertion BPNT1 EPRS
nsv549222 Chr.1:220053390 - 220073050 on Build GRCh38 Loss BPNT1
esv3588892 Chr.1:220059332 - 220071714 on Build GRCh38 Loss BPNT1

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