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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 HCN3 PKLR FDPS LOC105371451
nsv831636 Chr.1:155249432 - 155475073 on Build GRCh38 Loss SCAMP3 HCN3 FAM189B POU5F1P4 ASH1L PKLR FDPS CLK2 LOC105371451 RUSC1-AS1 RUSC1 MIR555
esv33869 Chr.1:155253492 - 155948170 on Build GRCh38 Loss YY1AP1 HCN3 KIAA0907 ASH1L PKLR SYT11 CLK2 ASH1L-AS1 SCARNA26B MIR555 LOC100505728 MSTO1 RUSC1 RIT1 GON4L SCARNA4 LOC105371451 MSTO2P SCARNA26A SCAMP3 ARHGEF2 FAM189B POU5F1P4 DAP3 FDPS SNORA80E RUSC1-AS1 RXFP4
nsv952214 Chr.1:155279610 - 155304509 on Build GRCh38 Deletion HCN3 PKLR
nsv436027 Chr.1:155260761 - 155291532 on Build GRCh38 Insertion SCAMP3 HCN3 PKLR CLK2
esv23319 Chr.1:155257268 - 155292883 on Build GRCh38 Gain SCAMP3 HCN3 PKLR CLK2
dgv3n68 Chr.1:155122502 - 155343618 on Build GRCh38 Loss GBAP1 GBA HCN3 SLC50A1 ASH1L PKLR CLK2 MUC1 LOC105371451 SCAMP3 MTX1 EFNA1 FAM189B KRTCAP2 TRIM46 THBS3 FDPS DPM3 RUSC1-AS1 MIR92B RUSC1

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