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Gene Symbol
PFKL
Assay Reference Genome
Location

Chr.21:44300715 on build GRCh38
Cytoband
21q22.3
Assay ID Hs07536956_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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Online offer: 441.65
441.65
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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
nsv526673 Chr.21:44291319 - 44303501 on Build GRCh38 Loss PFKL AIRE
nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion PFKL LRRC3-AS1 LRRC3 TRPM2-AS C21orf2 AIRE TRPM2
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss LRRC3 KRTAP10-9 LOC105372833 AIRE RRP1 CSTB KRTAP10-1 AGPAT3 LRRC3-AS1 TRPM2-AS AATBC KRTAP10-4 ICOSLG TSPEAR-AS2 KRTAP10-6 C21orf2 KRTAP10-7 TRPM2 LOC100505727 PWP2 KRTAP10-5 TSPEAR-AS1 TRAPPC10 DNMT3L C21orf33 KRTAP10-11 PFKL KRTAP10-2 TSPEAR KRTAP10-3 PDXK KRTAP10-8 KRTAP10-10
nsv511633 Chr.21:44300490 - 44302559 on Build GRCh38 Gain PFKL
nsv587778 Chr.21:44300145 - 44303501 on Build GRCh38 Gain PFKL
dgv7886n54 Chr.21:44297614 - 44300692 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 LOC100505727 PFKL LRRC3-AS1 LRRC3 TRPM2-AS TSPEAR-AS1 TSPEAR TSPEAR-AS2 C21orf2 AIRE TRPM2
esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion LOC100505727 KRTAP10-5 LRRC3 TSPEAR-AS1 LOC105372833 DNMT3L AIRE KRTAP10-1 PFKL LRRC3-AS1 TRPM2-AS KRTAP10-4 KRTAP10-2 TSPEAR TSPEAR-AS2 KRTAP10-6 C21orf2 KRTAP10-3 TRPM2
nsv587779 Chr.21:44300477 - 44330463 on Build GRCh38 Loss PFKL C21orf2
nsv587774 Chr.21:44283777 - 44306907 on Build GRCh38 Loss PFKL AIRE
nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss PFKL TRPM2-AS ICOSLG C21orf2 LOC105372833 DNMT3L AIRE TRPM2
esv24065 Chr.21:44300039 - 44300764 on Build GRCh38 Loss PFKL

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