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

Chr.1:155290132 on build GRCh38
Cytoband
1q22
Assay ID Hs00138755_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 2204 NP_000289.1
NM_181871.3 11 2186 NP_870986.1
M15465.1 11 2140 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 HCN3 PKLR
nsv831636 Chr.1:155249432 - 155475073 on Build GRCh38 Loss CLK2 FDPS FAM189B RUSC1 LOC105371451 ASH1L SCAMP3 MIR555 HCN3 PKLR POU5F1P4 RUSC1-AS1
esv33869 Chr.1:155253492 - 155948170 on Build GRCh38 Loss MSTO1 SCAMP3 ASH1L-AS1 MSTO2P PKLR DAP3 ARHGEF2 LOC100505728 FAM189B RUSC1 ASH1L SNORA80E SYT11 KIAA0907 RXFP4 SCARNA4 CLK2 FDPS GON4L SCARNA26B MIR555 YY1AP1 SCARNA26A HCN3 POU5F1P4 RIT1 RUSC1-AS1 LOC105371451
nsv436027 Chr.1:155260761 - 155291532 on Build GRCh38 Insertion CLK2 SCAMP3 HCN3 PKLR
nsv952214 Chr.1:155279610 - 155304509 on Build GRCh38 Deletion HCN3 PKLR
esv2758971 Chr.1:155122502 - 155345016 on Build GRCh38 Gain CLK2 FDPS GBA TRIM46 SCAMP3 MIR92B HCN3 THBS3 PKLR RUSC1-AS1 DPM3 FAM189B RUSC1 LOC105371451 ASH1L SLC50A1 MTX1 KRTCAP2 EFNA1 GBAP1 MUC1
esv23319 Chr.1:155257268 - 155292883 on Build GRCh38 Gain CLK2 SCAMP3 HCN3 PKLR

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