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

Chr.12:48128913 on build GRCh38
Cytoband
12q13.11
Assay ID Hs07014531_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5213

Gene Name:

 phosphofructokinase, muscle

Gene Aliases:

 ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122

Location:

 Chr.12:48105278-48146404 on Build GRCh38

Assay Gene Location:

 Within Intron 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKM NM_000289.5 NP_000280.1
NM_001166686.1 NP_001160158.1
NM_001166687.1 NP_001160159.1
NM_001166688.1 NP_001160160.1
XM_005268974.1 XP_005269031.1
XM_005268975.1 XP_005269032.1
XM_005268976.3 XP_005269033.1
XM_005268977.1 XP_005269034.1
XM_005268978.2 XP_005269035.1
XM_005268979.1 XP_005269036.1
XM_011538487.1 XP_011536789.1
XM_011538488.2 XP_011536790.1
XM_017019467.1 XP_016874956.1
XM_017019468.1 XP_016874957.1
XM_017019469.1 XP_016874958.1
AK126020.1
AK126229.1 BAC86498.1
AK312284.1
BC000534.2 AAH00534.1
BC007798.2 AAH07798.2
BC012799.2 AAH12799.1
BC013298.2 AAH13298.1
BC021203.2 AAH21203.1
DA525437.1
DA560355.1
DA761651.1
DA795106.1
KU178251.1
KU178252.1
KU178253.1
KU178254.1
M26066.1 AAA60068.1
U24183.1 AAA91985.1
Y00698.1 CAA68692.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2759898 Chr.12:48035919 - 48431716 on Build GRCh38 Gain+Loss MIR6505 PFKM CCDC184 SENP1 ZNF641 OR10AD1 C12orf54 ASB8 H1FNT
nsv508673 Chr.12:48096003 - 48173355 on Build GRCh38 Deletion MIR6505 PFKM SENP1 ASB8

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