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

Chr.21:44300377 on build GRCh38
Cytoband
21q22.3
Assay ID Hs07536710_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5211

Gene Name:

 phosphofructokinase, liver type

Gene Aliases:

 ATP-PFK, PFK-B, PFK-L

Location:

 Chr.21:44300034-44327381 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKL NM_001002021.2 NP_001002021.2
NM_002626.5 NP_002617.3
XM_005261135.3 XP_005261192.1
XM_006724011.1 XP_006724074.1
XM_017028369.1 XP_016883858.1
XM_017028370.1 XP_016883859.1
AB209127.1 BAD92364.1
AK091488.1
AK303605.1
AK308437.1
BC006422.1 AAH06422.1
BC007536.1 AAH07536.1
BC008964.2 AAH08964.1
BC009919.2 AAH09919.1
CB997055.1
HY111158.1
X15573.1 CAA33597.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv587778 Chr.21:44300145 - 44303501 on Build GRCh38 Gain PFKL
dgv7886n54 Chr.21:44297614 - 44300692 on Build GRCh38 Loss PFKL AIRE
nsv526673 Chr.21:44291319 - 44303501 on Build GRCh38 Loss PFKL AIRE
nsv587775 Chr.21:44295931 - 44300692 on Build GRCh38 Loss PFKL AIRE
nsv953646 Chr.21:44279118 - 44523117 on Build GRCh38 Deletion C21orf2 TSPEAR LRRC3-AS1 TSPEAR-AS2 LRRC3 TSPEAR-AS1 PFKL TRPM2-AS LOC100505727 TRPM2 AIRE
esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion KRTAP10-1 C21orf2 KRTAP10-4 LOC105372833 LRRC3-AS1 KRTAP10-2 KRTAP10-6 PFKL KRTAP10-5 TRPM2 AIRE TSPEAR TSPEAR-AS2 LRRC3 TSPEAR-AS1 DNMT3L TRPM2-AS LOC100505727 KRTAP10-3
nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion C21orf2 LRRC3-AS1 LRRC3 PFKL TRPM2-AS TRPM2 AIRE
nsv587774 Chr.21:44283777 - 44306907 on Build GRCh38 Loss PFKL AIRE
nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss C21orf2 LOC105372833 PFKL DNMT3L TRPM2-AS ICOSLG TRPM2 AIRE
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss KRTAP10-1 C21orf2 KRTAP10-4 LOC105372833 LRRC3-AS1 PFKL KRTAP10-9 KRTAP10-10 KRTAP10-11 PWP2 KRTAP10-5 CSTB KRTAP10-8 AATBC PDXK KRTAP10-7 TSPEAR TSPEAR-AS2 LRRC3 TSPEAR-AS1 TRPM2-AS LOC100505727 RRP1 KRTAP10-2 KRTAP10-6 AGPAT3 ICOSLG C21orf33 TRPM2 TRAPPC10 AIRE DNMT3L KRTAP10-3
esv24065 Chr.21:44300039 - 44300764 on Build GRCh38 Loss PFKL

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More Information


Additional Information:

For this assay, SNP(s) [rs186232709] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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