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

Chr.10:3125167 on build GRCh38
Cytoband
10p15.2
Assay ID Hs07441830_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5214

Gene Name:

 phosphofructokinase, platelet

Gene Aliases:

 ATP-PFK, PFK-C, PFK-P, PFKF

Location:

 Chr.10:3067475-3136805 on Build GRCh38

Assay Gene Location:

 Within Exon 21
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKP NM_001242339.1 NP_001229268.1
NM_001323067.1 NP_001309996.1
NM_001323068.1 NP_001309997.1
NM_001323069.1 NP_001309998.1
NM_001323070.1 NP_001309999.1
NM_001323071.1 NP_001310000.1
NM_001323072.1 NP_001310001.1
NM_001323073.1 NP_001310002.1
NM_001323074.1 NP_001310003.1
NM_002627.4 NP_002618.1
XM_005252465.4 17 1875 XP_005252522.1
XM_005252466.4 16 1722 XP_005252523.1
XM_005252467.2 XP_005252524.1
XM_006717449.1 17 1799 XP_006717512.1
AK092597.1
AK128373.1
AK291841.1
AK308003.1
AK308226.1
AK309692.1
BC002536.1 AAH02536.1
BC021698.1 AAH21698.1
BC029138.1 AAH29138.1
D21863.1 BAA21891.1
D25328.1 BAA04998.1
M64784.1 AAA36435.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv549814 Chr.10:3055020 - 3170233 on Build GRCh38 Loss PFKP SNORD142 PITRM1-AS1 PITRM1 LOC101927824
esv3622165 Chr.10:3099237 - 3125437 on Build GRCh38 Gain PFKP
dgv932n54 Chr.10:2382612 - 3253481 on Build GRCh38 Gain LOC105376353 PFKP SNORD142 PITRM1-AS1 PITRM1 LOC101927824 LOC105376351 LOC107983989
esv2759726 Chr.10:2618610 - 3156581 on Build GRCh38 Gain PFKP SNORD142 PITRM1-AS1 PITRM1 LOC101927824
esv2730995 Chr.10:2770220 - 3706473 on Build GRCh38 Deletion LOC105376353 PFKP LOC105376501 LOC105376360 SNORD142 PITRM1-AS1 PITRM1 LOC101927824
nsv549818 Chr.10:3081241 - 3227125 on Build GRCh38 Gain PFKP SNORD142 PITRM1-AS1 PITRM1
nsv525229 Chr.10:3123124 - 3127579 on Build GRCh38 Loss PFKP
dgv935n54 Chr.10:3044294 - 3125271 on Build GRCh38 Loss PFKP LOC101927824
esv2750891 Chr.10:3098894 - 3164173 on Build GRCh38 Loss PFKP SNORD142 PITRM1-AS1 PITRM1
nsv470913 Chr.10:3052993 - 3125271 on Build GRCh38 Loss PFKP LOC101927824
nsv549810 Chr.10:3035272 - 3691194 on Build GRCh38 Gain LOC105376353 PFKP LOC105376501 LOC105376360 SNORD142 PITRM1-AS1 PITRM1 LOC101927824

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