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

Chr.21:44301101 on build GRCh38
Cytoband
21q22.3
Assay ID Hs04072425_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
nsv526673 Chr.21:44291319 - 44303501 on Build GRCh38 Loss AIRE PFKL
nsv953646 Chr.21:44279118 - 44523117 on Build GRCh38 Deletion TSPEAR-AS2 TSPEAR LOC100505727 LRRC3 TSPEAR-AS1 LRRC3-AS1 C21orf2 AIRE TRPM2-AS TRPM2 PFKL
esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion KRTAP10-6 TSPEAR-AS2 TSPEAR LOC100505727 LOC105372833 C21orf2 KRTAP10-5 TRPM2-AS KRTAP10-2 KRTAP10-3 KRTAP10-4 LRRC3 TSPEAR-AS1 LRRC3-AS1 AIRE DNMT3L KRTAP10-1 TRPM2 PFKL
nsv587779 Chr.21:44300477 - 44330463 on Build GRCh38 Loss C21orf2 PFKL
nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion LRRC3 LRRC3-AS1 C21orf2 AIRE TRPM2-AS TRPM2 PFKL
nsv587774 Chr.21:44283777 - 44306907 on Build GRCh38 Loss AIRE PFKL
nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss ICOSLG LOC105372833 C21orf2 AIRE DNMT3L TRPM2-AS TRPM2 PFKL
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss C21orf33 KRTAP10-6 TSPEAR-AS2 TRAPPC10 LOC105372833 C21orf2 KRTAP10-5 AGPAT3 KRTAP10-2 KRTAP10-3 LRRC3 AATBC KRTAP10-1 KRTAP10-7 RRP1 PWP2 TSPEAR ICOSLG LOC100505727 KRTAP10-11 PDXK TRPM2-AS KRTAP10-9 KRTAP10-10 KRTAP10-4 KRTAP10-8 TSPEAR-AS1 LRRC3-AS1 CSTB AIRE DNMT3L TRPM2 PFKL
nsv511633 Chr.21:44300490 - 44302559 on Build GRCh38 Gain PFKL

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