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

Chr.10:3111469 on build GRCh38
Cytoband
Assay ID Hs03753447_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.10:3067548-3136805 on Build GRCh38

Assay Gene Location:

 Within Intron 14
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKP NM_001242339.2 NP_001229268.1
NM_001323067.2 NP_001309996.1
NM_001323068.2 NP_001309997.1
NM_001323069.2 NP_001309998.1
NM_001323070.1 NP_001309999.1
NM_001323071.2 NP_001310000.1
NM_001323072.2 NP_001310001.1
NM_001323073.1 NP_001310002.1
NM_001323074.1 NP_001310003.1
NM_001345944.1 NP_001332873.1
NM_001410880.1 NP_001397809.1
NM_002627.5 NP_002618.1
XM_005252466.5 XP_005252523.1
XM_006717449.2 XP_006717512.1
XM_047425350.1 XP_047281306.1
AK092597.1 BAG52577.1
AK291841.1 BAF84530.1
AK308003.1
AK308226.1
AK309692.1
BC002536.1 AAH02536.1
BC021698.1 AAH21698.1
BC029138.1 AAH29138.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv549814 Chr.10:3055020 - 3170233 on Build GRCh38 Loss SNORD142 PITRM1-AS1 PFKP-DT PITRM1 PFKP LOC124902536
esv3622165 Chr.10:3099237 - 3125437 on Build GRCh38 Gain PFKP
dgv932n54 Chr.10:2382612 - 3253481 on Build GRCh38 Gain SNORD142 PITRM1-AS1 PFKP-DT LOC107983989 LINC02645 LINC02668 PITRM1 PFKP LOC124902536 LOC105376350 LOC105376353
nsv428229 Chr.10:2618610 - 3156581 on Build GRCh38 Gain SNORD142 PITRM1-AS1 PFKP-DT PITRM1 PFKP LOC124902536 LOC105376350
esv2730995 Chr.10:2770220 - 3706473 on Build GRCh38 Deletion SNORD142 PITRM1-AS1 PFKP-DT LINC02668 PITRM1 PFKP LOC124902536 LOC124902565 LOC105376360 LINC02669 LOC105376353
nsv3247937 Chr.10:3092335 - 3114052 on Build GRCh38 Insertion PFKP
esv3447223 Chr.10:3110560 - 3111458 on Build GRCh38 Duplication PFKP
nsv6442021 Chr.10:3030896 - 3173781 on Build GRCh38 Duplication SNORD142 PITRM1-AS1 PFKP-DT PITRM1 PFKP LOC124902536
esv2750891 Chr.10:3098894 - 3164173 on Build GRCh38 Loss SNORD142 PITRM1-AS1 PITRM1 PFKP
nsv516811 Chr.10:3108122 - 3113598 on Build GRCh38 Loss PFKP
nsv470913 Chr.10:3052993 - 3125271 on Build GRCh38 Loss PFKP-DT PFKP LOC124902536
nsv6442520 Chr.10:2846098 - 3581354 on Build GRCh38 Duplication SNORD142 PITRM1-AS1 PFKP-DT LINC02668 PITRM1 PFKP LOC124902536 LOC124902565 LOC105376360 LINC02669 LOC105376353
nsv549810 Chr.10:3035272 - 3691194 on Build GRCh38 Gain SNORD142 PITRM1-AS1 PFKP-DT LINC02668 PITRM1 PFKP LOC124902536 LOC124902565 LOC105376360 LINC02669 LOC105376353
nsv6454219 Chr.10:2905224 - 3284256 on Build GRCh38 Duplication SNORD142 PITRM1-AS1 PFKP-DT LINC02668 PITRM1 PFKP LOC124902536 LOC105376353
nsv6437272 Chr.10:3058401 - 3259500 on Build GRCh38 Deletion SNORD142 PITRM1-AS1 PFKP-DT LINC02668 PITRM1 PFKP LOC124902536 LOC105376353
nsv549818 Chr.10:3081241 - 3227125 on Build GRCh38 Gain SNORD142 PITRM1-AS1 PITRM1 PFKP
nsv4179484 Chr.10:2460844 - 3257750 on Build GRCh38 Duplication SNORD142 PITRM1-AS1 PFKP-DT LOC107983989 LINC02645 LINC02668 PITRM1 PFKP LOC124902536 LOC105376350 LOC105376353
dgv935n54 Chr.10:3044294 - 3125271 on Build GRCh38 Loss PFKP-DT PFKP LOC124902536
dgv38n206 Chr.10:2613782 - 3185857 on Build GRCh38 Duplication SNORD142 PITRM1-AS1 PFKP-DT PITRM1 PFKP LOC124902536 LOC105376350
nsv6455282 Chr.10:3085901 - 3154200 on Build GRCh38 Deletion SNORD142 PITRM1-AS1 PITRM1 PFKP

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More Information


Additional Information:

For this assay, SNP(s) [rs79011666] 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

Gene Ontology Categories:

Function(s) Process(es)


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