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

Chr.1:155289962 on build GRCh38
Cytoband
1q22
Assay ID Hs00123610_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5313

Gene Name:

 pyruvate kinase, liver and RBC

Gene Aliases:

 PK1, PKL, PKR, PKRL, RPK

Location:

 Chr.1:155289293-155301434 on Build GRCh38

Assay Gene Location:

 Within Exon 12
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PKLR NM_000298.5 11 2374 NP_000289.1
NM_181871.3 11 2356 NP_870986.1
M15465.1 11 2310 AAA60104.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv3032 Chr.1:155285619 - 155318185 on Build GRCh38 Insertion FDPS LOC105371451 PKLR HCN3
nsv831636 Chr.1:155249432 - 155475073 on Build GRCh38 Loss POU5F1P4 SCAMP3 FDPS MIR555 RUSC1-AS1 LOC105371451 ASH1L FAM189B RUSC1 PKLR HCN3 CLK2
esv33869 Chr.1:155253492 - 155948170 on Build GRCh38 Loss SNORA80E POU5F1P4 FDPS GON4L RXFP4 YY1AP1 MSTO1 DAP3 RIT1 SYT11 SCARNA4 SCARNA26A KIAA0907 ARHGEF2 SCAMP3 MIR555 RUSC1-AS1 HCN3 MSTO2P LOC105371451 ASH1L SCARNA26B FAM189B RUSC1 ASH1L-AS1 PKLR LOC100505728 CLK2
nsv436027 Chr.1:155260761 - 155291532 on Build GRCh38 Insertion SCAMP3 PKLR HCN3 CLK2
nsv952214 Chr.1:155279610 - 155304509 on Build GRCh38 Deletion PKLR HCN3
esv2758971 Chr.1:155122502 - 155345016 on Build GRCh38 Gain SCAMP3 FDPS MUC1 RUSC1-AS1 MTX1 TRIM46 GBAP1 HCN3 KRTCAP2 DPM3 LOC105371451 MIR92B ASH1L GBA FAM189B RUSC1 PKLR EFNA1 SLC50A1 CLK2 THBS3
esv23319 Chr.1:155257268 - 155292883 on Build GRCh38 Gain SCAMP3 PKLR HCN3 CLK2

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