Genomic Map

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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 Intron 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			XP_005252522.1
	XM_005252466.4			XP_005252523.1
	XM_005252467.2			XP_005252524.1
	XM_006717449.1			XP_006717512.1
	AK092597.1
	AK126153.1	1	234
	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	PITRM1 PITRM1-AS1 PFKP SNORD142 LOC101927824
dgv932n54	Chr.10:2382612 - 3253481 on Build GRCh38	Gain	PITRM1 LOC107983989 PITRM1-AS1 LOC105376351 PFKP LOC105376353 SNORD142 LOC101927824
esv2730995	Chr.10:2770220 - 3706473 on Build GRCh38	Deletion	PITRM1 PITRM1-AS1 PFKP LOC105376353 LOC105376360 SNORD142 LOC105376501 LOC101927824
nsv428229	Chr.10:2618610 - 3156581 on Build GRCh38	Gain	PITRM1 PITRM1-AS1 PFKP SNORD142 LOC101927824
nsv549818	Chr.10:3081241 - 3227125 on Build GRCh38	Gain	PITRM1 PITRM1-AS1 PFKP SNORD142
nsv525229	Chr.10:3123124 - 3127579 on Build GRCh38	Loss	PFKP
esv2750891	Chr.10:3098894 - 3164173 on Build GRCh38	Loss	PITRM1 PITRM1-AS1 PFKP SNORD142
nsv549810	Chr.10:3035272 - 3691194 on Build GRCh38	Gain	PITRM1 PITRM1-AS1 PFKP LOC105376353 LOC105376360 SNORD142 LOC105376501 LOC101927824

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More Information

Additional Information:

For this assay, SNP(s) [rs139109982,rs77820476] 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.